Diagnosing Common Movement Disorders in Children

REVIEW ARTICLE

Diagnosing Common
C O N T I N UU M A UD I O
I NT E R V I E W A V AI L A B L E
ONLINE
Movement Disorders in

VIDEO CONTENT
Children
A VA I L A B L E O N L I N E By Jennifer A. O’Malley, MD, PhD
ABSTRACT
PURPOSE OF REVIEW: This article is designed to help the clinician identify the
most common pediatric movement disorders and recognize benign versus
pathologic movements in infancy and childhood, with a particular focus on
treatable conditions and those that should not be missed.
As telehealth has become more prevalent as a means of

RECENT FINDINGS:
providing health care services, the challenges of obtaining relevant
examination findings during telehealth encounters for assessment of
CITE AS: children with movement disorders have become evident.
CONTINUUM (MINNEAP MINN)
2022;28(5, MOVEMENT DISORDERS):
SUMMARY: Although many children who present with a chief complaint of
1476–1519.
“abnormal movements” are found to have a benign, self-resolving
Address correspondence to etiology, it is critical that neurologists accurately recognize benign versus
Dr Jennifer A. O’Malley, pathologic movements in children to ensure appropriate diagnosis and
Stanford University School of
Medicine, Department of
intervention.
Neurology, Division of Child
Neurology, 750 Welch Rd,
3rd Floor, Palo Alto, CA 94304,
omalleyj@stanford.edu.
INTRODUCTION
RELATIONSHIP DISCLOSURE:
R
Dr O’Malley has received eferrals to neurologists because of abnormal movements are common
personal compensation in the in children. Although many children who present with a chief
range of $5000 to $9999 for
serving on a speakers bureau
complaint of “abnormal movements” are found to have a benign,
for PTC Therapeutics and has self-resolving etiology, it is critical that neurologists accurately
stock in Doximity. The institution recognize benign versus pathologic movements in children to ensure
of Dr O’Malley has received
research support from Grace
appropriate intervention.
Science, LLC. Children may present with an isolated hyperkinetic or hypokinetic movement
disorder; however, mixed movement disorders are more common in young
UNLABELED USE OF
PRODUCTS/INVESTIGATIONAL patients than in adults. Pediatric movement disorders may present at any point
USE DISCLOSURE: during infancy or childhood. They can affect tone, posture, strength, and all
Dr O’Malley discusses the
phases of movement (planning, initiation, and execution) and can consist of
unlabeled/investigational use of
deep brain stimulation for aberrant voluntary or involuntary movements. As in adults, abnormal
movement disorders in children movements in children may be categorized as ataxia, spasticity, dystonia, chorea,
and gene therapy for aromatic
L-amino acid decarboxylase
myoclonus, tremor, or parkinsonism. However, given the overlap of symptoms
deficiency. as well as variability of presentation in most pediatric movement disorders,
classification into four main categories serves as a helpful framework: (1)
© 2022 American Academy transient developmental disorders, (2) paroxysmal movement disorders, (3)
of Neurology. secondary noninherited disorders, and (4) hereditary or metabolic disorders.1
1476 OCTOBER 2022
Copyright © American Academy of Neurology. Unauthorized reproduction of this article is prohibited.

The emergence of a movement disorder in the setting of the developing KEY POINTS
nervous system presents a unique set of challenges to the managing physician. As
● Developmental control of
many childhood movement disorders are self-resolving, benign, or both, voluntary movement begins
recognition of benign versus pathologic movements in children is essential to at the head and neck and
accurate diagnosis and management. Understanding the fundamental principles progresses to the trunk and
of motor development is key to recognition of benign versus pathologic then the extremities
(rostrocaudal gradient).
movements in infants and children. Diagnostic competency relies heavily on a
thorough history, a detailed neurologic examination, and astute recognition of ● Coordinated movement
phenomenology (practiced pattern recognition) of both normal and abnormal involves the whole brain, not
movements. just the basal ganglia and
This article is designed to help the clinician identify and manage the most motor cortices but also the
brainstem, limbic system,
common pediatric movement disorders and to recognize benign versus cerebellum, frontal lobes,
pathologic movements in infancy and childhood. and nonmotor pathways.
NORMAL DEVELOPMENT OF MOTOR CONTROL ● Voluntary movement

involves an intricate balance
Effective diagnosis of movement disorders in children first requires recognition of “stop and go” signaling,
of normal versus abnormal movements across ages. Understanding several basic with dopamine playing the
principles of motor development is essential to making this distinction.2 role of fine motor
modulator.
Top-Down Approach
Control of voluntary movement begins at the head and neck and progresses to
the trunk and then the extremities. This “top-down” development of motor
control occurs in concert with progressively diminishing primitive reflexes
(eg, startle, palmar and plantar grasp) and emergence of postural reflexes
(eg, lateral propping and parachuting). This rostrocaudal developmental pattern
strategically protects the brain from injury: infants must attain head control and
the ability to catch themselves when falling (lateral propping, parachuting)
before they are able to achieve more gravity-defying skills such as sitting,
standing, and walking. Thus, retained primitive reflexes and/or failure to
develop postural reflexes are important hallmarks of motor delay.
Movement Employs the “Whole Brain”

The basal ganglia are essential for integration of inhibitory and excitatory
signaling from throughout the nervous system. The roles of the deep gray matter,
spinal cord, and motor cortex are certainly well established, but it is important to
remember that motor function also involves coordinated signaling from the
brainstem, limbic system, cerebellum, and frontal cortices as well as nonmotor
pathways. Appreciation of the complex integration of signaling from both motor
and nonmotor circuitry supports a much deeper understanding that voluntary
movement is truly a “whole brain” process.
Movement Requires a Fine Balance of Inhibitory and Excitatory Signaling

A balance of inhibitory γ-aminobutyric acid–mediated (GABA-ergic) or “brake”
signaling and excitatory glutamatergic or “gas” signaling is essential to
coordinated movement.3 Dopamine plays the important role of moderator
between these “stop and go” signals and is key to fine motor coordination, a
balance of selection of desired movements and inhibition of unwanted
movements. In children, this fine balance develops slowly over time. Control of
inhibitory signaling is a feature of advanced motor development and can be slow
to emerge even in typically developing children. As an example, consider the
CONTINUUMJOURNAL.COM 1477

DIAGNOSING COMMON MOVEMENT DISORDERS IN CHILDREN
typical, very active 7-year-old child whose behavior may be described as “all gas
and no brake,” which is evidence of normal, still-maturing motor inhibition.4
Voluntary Movement Is Multiphasic

Voluntary movement is the result of at least three key overlapping phases:
planning, initiation, and execution. The anatomic areas associated with each
phase certainly overlap, but motor planning (which includes learning, selection,
and timing of movements) is typically associated with the cortical association
areas, cerebellum, thalamus, and basal ganglia. The thalamus and motor cortex
are central to motor initiation, and complex signaling from the cortex,
cerebellum, brainstem, spinal cord, and musculoskeletal system is integrated
during motor execution. Impairment of any or several of these phases may result
in disordered movement. Recognizing which phase or phases of movement are
impaired may be helpful in guiding some treatment decisions.
OBTAINING AN EFFECTIVE PEDIATRIC MOVEMENT DISORDER

HISTORY
Effective diagnosis and treatment of pediatric movement disorders begins with a
comprehensive history. Ideally, this history can be obtained directly from the
child, with supporting information from the caregiver(s). It is important to
ask for details from even young children, as their level of insight may be
surprisingly informative. Although efficiency is important, often a little extra
time and patience during the history portion can go far toward gaining an
accurate understanding of the phenomenology of the child’s movement
of concern.
Phenomenology and History of Present Illness

A movement disorder history begins with a focus on primary phenomenology, or
pattern recognition, to aid in identifying and categorizing the movement of
concern. It is important to determine the onset, duration, location or distribution,
severity, and provoking and relieving factors. Are the movements episodic or
continuous? Do they wax and wane throughout the day? Are there times when
the movements worsen or resolve? Do they continue during sleep? Is the child
aware of the movements and, if so, is the child bothered by them? Do the
movements occur in multiple environments (home, school)? Can the child
control the movement? Can the child stop or start the movement on command?
Is the movement associated with any premonitory urge? Has the child developed
any techniques to stop, suppress, or interrupt the movements? Are the
movements painful, embarrassing, or annoying to the child?
Ask if the child has tried any medications or supplements to relieve the
movements. Has the child seen other providers to address the movements? What
have others (providers, family members, teachers, friends) said about the
movements? This question can be an opportunity to understand the child’s
thoughts and feelings about the movements and to provide needed education or
dispel any misleading information that may have been encountered. For
example, a child with unrecognized chorea who has been reprimanded for an
inability to sit still may feel very embarrassed by the chorea and work very hard
to minimize the movements. Or the child whose concerns have previously been
dismissed may be unintentionally embellishing the movements in effort to be
taken seriously.
1478 OCTOBER 2022

Birth History KEY POINTS
A birth history should be obtained for any pediatric complaint but can be
● Understanding phases of
especially important when evaluating for a movement disorder. This includes movement (motor planning,
maternal pregnancy history and history of any other pregnancy loss or infant initiation, and execution)
death. Maternal medication use during pregnancy is important when considering can help to better identify
abnormal movements in the neonate such as jitteriness or abnormal tone. History abnormal movements.
of prematurity, birth trauma, or hyperbilirubinemia (treated or untreated) may
● The clinician should ask
pose risk for abnormal movements related to underlying brain injury. The the child about their
clinician should ask specifically about any maternal risk factors or illnesses movements: what, where,
during pregnancy, birth weight, gestation age, head circumference at birth, when, with whom, wax/
method of delivery, use of forceps or vacuum extraction, and resuscitation wane, worsening, why (Why
do you think you have these
needed at the time of delivery. Perinatal infections, history of neonatal intensive movements?) (What do you
care unit hospitalization, or other infection or illness in the neonatal period may want help with?).
also be informative.
● The clinician should pay
careful attention to
Developmental History developmental milestones
A detailed developmental history is important even for those children who seem and watch for signs of subtle
to be developing typically. Outlining a specific timeline of achievement of delay when evaluating a
milestones (or failure to do so) in all domains including gross motor, fine motor, child for movement
disorders.
speech and language, and cognition can point to subtle signs of delay that could
be otherwise overlooked. For children with previously identified delay, ● The clinician should dig
understanding the presence or absence of, timing of, and response to deep on family history;
interventions such as physical, occupational, or speech therapy will help narrow encourage parents to ask
the differential diagnosis. their families about their
own childhood movements
when evaluating a child
Medical and Surgical History presenting with a movement
Caregivers may not think chronic illnesses such as asthma are relevant to a disorder.
movement complaint, so it is important to ask directly if the child has any other
diagnoses or uses medication for any condition. This is a good time to ask if the
child had any abnormal or extra movements in the past. Ask about early episodes
of atypical eye movements, torticollis, colic, or abnormal posturing in infancy
and early childhood. Was the child particularly clumsy or slow to toilet train, or
did they struggle to learn to use utensils to feed themselves?
Family History
A thorough family history is essential, and constructing a complete
multigeneration genogram can be revealing, especially if a genetic condition is
suspected. Often, especially with benign movement disorders such as tics and
stereotypies, there is a positive history of similar movements in one or both
parents in childhood. Encourage the parent to ask their own family members (the
grandparents, aunts, and uncles of the patient) if the parent had any similar
movements or “habits” as a child; the parent may not remember or may not be
aware of their own movements that resolved in early childhood. Examination of
family members can be very helpful when considering diagnoses with high
generational penetrance such as essential tremor and primary dystonias.
Psychosocial History
The psychosocial history is essential in the evaluation of a child with a movement
disorder. Ask about family living arrangements, who lives at home, and where
the child spends their time. Has anything recently changed about the child’s

living arrangements? If care is split between multiple households, are

expectations and routines similar or very different between locations? Have
caregivers recently changed jobs, moved, or undergone other major upheavals?
As previously mentioned, nonmotor and limbic circuitry also influences
voluntary movement. Emotions directly affect normal voluntary and involuntary
movements, and the same is true for disordered movements. Stress and anxiety
are increasingly common even in young children and may have a dramatic
impact on a child’s clinical presentation for both benign and pathologic
movement disorders. Thoughtful screening for anxiety, depression, obsessive-
compulsive disorder, eating disorders, self-harm, and suicidality is critical in
building a full understanding of the complexity of a child’s motor function.
Making an effort to normalize the concept of anxiety for children and their
families is important and can be powerful. Often children and their caregivers
deny a history of anxiety but can more easily identify with the concept of “worries.”
Reinforce that worry is normal and is part of how human beings have evolved—
without worry, we would not look both ways before crossing the street or behave
safely in the world. We all have worries; does this child worry more than others
or have specific worries that take up more time than they feel is appropriate?
Work to understand the impact of a child’s movement disorder on their
learning and education. Ask about inattention, hyperactivity, and attention
deficit hyperactivity disorder as well as school performance. Have the
movements directly or indirectly affected the child’s learning or academic
performance in any way? Are the movements contributing to any behavioral
challenges at school or in other environments? These details may aid in deciding
whether to offer symptomatic treatment.
PEDIATRIC MOVEMENT EXAMINATION

The essential components of the neurologic examination are similar in children
and adults. Children are more likely to present with mixed movement disorders,
which, when coupled with the moving target of ongoing development, can make
the pediatric neurologic examination challenging to interpret. The successful
completion of a neurologic examination focused on pediatric movement
disorders relies on several key skills.
Know the Developmental Milestones of Infancy and Childhood

The timing and pattern of emergence of developmental milestones are key to
understanding motor development. The clinician must also appreciate the
developmental relationship between resolution of primitive reflexes and
emergence of postural reflexes and how that relates to the acquisition of
motor milestones.
Utilize Observation
The majority of the neurologic examination can be completed by observation.
Recognizing and developing observational examination skills helps ensure that
nearly any patient encounter, in person or virtual, provides high-yield
examination data. Watching a child play provides detailed information about
mental status, intellectual function, cranial nerve function, fine and gross motor
function, tone, strength, endurance, coordination, and gait. Observational
examination skills are particularly relevant today as we incorporate more virtual
visits into regular clinical practice. Before the COVID-19 pandemic, it was
1480 OCTOBER 2022

difficult to imagine completing a relevant movement disorder examination KEY POINTS
remotely, yet now many of us find ourselves well practiced in eliciting valuable
● Understand both the
examination findings by video examination. Perhaps neurologists were manifestation and functional
particularly well prepared for this expansion of our skill set given our common impact of movements in
practice of using video examinations regularly for teaching and consulting on multiple environments when
challenging cases. It has long been common practice to ask a caregiver to capture evaluating a child presenting
with a movement disorder.
a movement of concern not observed in the office on home video for review by
the examiner. Real-time telehealth video examination can provide valuable ● Ask about and normalize
observation of the patient in their home, school, or other primary environment. worry to further explore the
It may be advantageous to ask the family to schedule the telehealth visit at the role of anxiety when
same time as ongoing in-home services such as physical or occupational therapy, evaluating a child presenting
with a movement disorder.
or to conduct the visit at the therapy office to coordinate with valuable input
from ancillary service providers who know the child well. Caregivers can be ● Understanding of
quickly taught to demonstrate many parts of the infant examination on video developmental milestones is
such as eliciting primitive and postural reflexes, demonstrating tone and key to recognizing normal
versus abnormal
reactivity through positioning the infant in vertical and horizontal suspension, movements.
and repeating any provoking stimuli for movements of concern on video
(feeding, diaper changing, etc). Even examination maneuvers such as ● Observation is an
handwriting samples or Archimedes spiral testing for tremor can be completed essential skill for the
pediatric movement
via telehealth by using technology such as screen sharing of virtual whiteboards
examination.
and electronic pencils used on tablet devices.
Build Engagement Deliberately

Some children are very quick to engage with the examiner, but others may be shy
or frightened by the appointment. For all children, starting the visit with a calm,
friendly introduction directly to the child will help the examiner gauge the child’s
willingness to engage. For those children who seem fearful or shy, give them time
and space. It can be helpful to turn attention to the caregiver, allowing the child to
explore the room on their own terms before redirecting your attention to the child.
Consider body language; sit down and allow space between yourself and the child,
with free access for the child to move easily to their caregiver. Allow the child to
become comfortable as you speak with the caregiver. It may help to allow the child
to think you are ignoring them. Try leaving some enticing toys close by to see if they
engage. Watch how the child sits, clings to their parents, or plays with an electronic
device of their own. Ask the child or caregiver about the child’s interests. During
telehealth visits, the examiner may encourage the child to engage by asking about
their toys, books, or pets visible on the screen. Siblings can be a distraction or a great
ally: younger children will often copy their older siblings quickly; older siblings will
often engage if they are asked to “help” demonstrate something for a younger
sibling or even to their pet. It is also fine to ask the family to take a moment to
remove a child from the room or to allow the patient to run off and play in the
background. Use of child-friendly virtual backgrounds by the examiner can be
particularly engaging; children can be asked to identify characters seen on screen or
count objects, identify colors, and so forth. Older children and adolescents may
engage with a background of their favorite or rival sports team, school, or activity.
If virtual backgrounds are not available to the examiner, consider keeping a supply
of engaging toys nearby to help maintain the child’s focus and attention.
Cooperative pets belonging to the examiner can be particularly engaging to young
children on screen, but be sure to ask the parent before engaging an animal to
ensure that the child is not fearful of that type of animal.

Be Flexible
Cognitive flexibility on the part of the examiner is essential. As neurologists,
we are often trained to perform the neurologic examination in a specific order
in an effort to stay organized and be thorough and efficient. This ritual can be
very reassuring to the examiner. However, when examining children, it pays
to “meet the child where they are” in terms of cooperativity and use whatever
activity they are actively engaged in at the moment as part of the examination.
It may be helpful to think of the pediatric neurologic examination in several
phases with key components intermixed between phases: (1) initial impression
(opportunity to assess mental status, intellectual function, social interaction,
ability to engage, basic cranial nerve function, basic assessment of motor
function and milestone attainment); (2) the child’s behavior and level of
function when the examiner’s attention is directed to the caregiver (opportunity
to assess the child’s ability to independently maintain attention to conversation
not directly involving them, and perform self-soothing, engagement, or self-
entertainment and to observe the child’s basic level of motor function); (3)
the child’s active behavior when examiner’s attention is directed to the child
(child’s ability to attend, cooperate, and perform specific tasks requested by
the examiner).
Use Creative Play

Children are not always cooperative or able to perform desired examination
maneuvers, so developing creative ways to observe specific movements is highly
valuable. For example, for a toddler with tremor, providing an engaging activity
such as coloring, using a puzzle, or reaching to help the examiner turn the
pages of a book can aid assessment of tremor qualities in different positions and
during different tasks. Anxious children may be calmed by “taking a walk”
and moving the encounter to the hallway, stairwell, or even outside, where it
may be easier to observe important gross motor activities such as walking,
running, and climbing.
Tone Is Dynamic
The intricacies of muscle tone are evidence of the elegance of finely tuned and
balanced central nervous system motor circuitry as the basis of human
movement. Too often, tone is thought of as a passive, single-state quality.
Effective assessment of tone requires demonstration not only at rest but also with
activation, with attention to reactivity, recruitment, and coordinated relaxation.
Normal infants can appear quite hypotonic when sleeping and may seem nearly
rigid when crying and distraught, a striking example of the high variability and
dynamic nature of appropriate muscle tone.
A Word About Motor Assessment Tools

Several rating scales are available to quantify normal and abnormal movement in
adults and children. These are described in more detail in subsequent sections
where relevant. Although some scales may be useful in monitoring improvement
or deterioration over time, many fall short of fully depicting the impact of
movement disorders on the lives of affected children. These assessment tools can
be used as helpful adjunct measures, but they should not replace or supersede
clinical assessment based on the provider’s obtained history and physical
examination.
1482 OCTOBER 2022

TRANSIENT DEVELOPMENTAL DISORDERS KEY POINTS
Transient developmental disorders include benign and common pediatric
● Making the examination
movement disorders. Infants and children commonly demonstrate movements fun and using play to elicit
that are confusing or alarming to their caregivers, resulting in a steady influx of movement patterns is key to
referrals of typically developing children to neurologists for “abnormal an efficient and thorough
movements.” Caregivers often seek medical care with an underlying fear that the movement examination in
children.
movements exhibited by their child could signal a serious neurologic problem
such as a seizure or brain tumor and may present with a high level of anxiety and ● Tone is dynamic.
sense of urgency regarding their child’s movements. Evaluating these children in Accurate and thorough
a timely manner can help ensure that the child is healthy and safe and provide understanding of tone
appropriate reassurance to caregivers. demands examination in
multiple states (at rest, with
Most benign movements in children are transient and typically hyperkinetic, activity, while asleep).
with phenomenology similar to myoclonus, dystonia, or dyskinesias.5,6 It is
helpful to group these conditions by typical age of presentation. Although some ● Many abnormal
of these conditions are common in children with concurrent developmental movements in children are
benign and will resolve with
disorders, all of these movements can and often do present in typically development.
developing children. Nevertheless, these movements can be very stressful for
families and, although not associated with neurodegeneration, can have a ● Tics and stereotypies are
significant impact on the quality of life of the affected child or their caregivers; the most common benign
movement disorders in
they may necessitate continued management and monitoring by the clinician.
childhood.
Benign movements presenting in infancy include diagnoses such as stereotypies,
benign neonatal sleep myoclonus, jitteriness, shuddering, paroxysmal tonic
upgaze, torticollis (including benign paroxysmal torticollis), head nodding,
spasmus nutans, benign dystonia of infancy, reflux (Sandifer syndrome), colic,
and self-stimulation. Older children and adolescents may present with
stereotypies, tics, and Tourette syndrome. Stereotypies and tics are the most
common of these benign disorders and are discussed below, with other disorders
briefly summarized in TABLE 11-1.5,6
Stereotypies
Stereotypies are benign, repetitive stereotyped movements typically involving
the hands, face, or both. Movements can range from appearing relatively simple
and subtle to quite complex. Frequency and duration are variable, and
stereotypies may be intermittent or persistent. Unlike tics, stereotypies are not
typically associated with a sense of urge. For a detailed review, see the article by
Katherine.7 Although the child may appear very engaged in the movements, as a
rule, stereotypies are interruptible and the child remains responsive (although
they may be inattentive to someone attempting to interrupt or distract them
from the movements). Families often worry that the presence of motor
stereotypies in their typically developing child is a harbinger of autism or another
pervasive developmental disorder. Reassurance is key, and repeated evaluation
at regular intervals can help ensure that the family is confident moving forward
with conservative management. Although many typically developing children
outgrow their stereotypies by early school age, others may continue to perform
stereotypies into adulthood. Many older children with retained motor
stereotypies report that they enjoy performing these movements, and some
describe accompanying intense visual imagery.8 The clinician should ask older
children what they are thinking or visualizing when they are performing their
stereotypies. Some may report very vivid descriptions of an imaginative world,
as if they were playing an exciting video game in their head. Realizing that their

TABLE 11-1 Common Benign Pediatric Movement Disordersa
Common
chief
complaints Age at onset
on → typical Typical Examination Follow-up or
presentation Diagnosis resolution presentation findings Workup treatment
Shaking Benign Neonatal Myoclonic jerks Normal None None

spell, rule neonatal period → of arms, legs, or
out seizures sleep midinfancy both during
myoclonus sleep; jerks
resolve upon
awakening
Jitteriness Neonatal Jittery, Mild Review maternal Monitor for

period → tremulous infant tremulous prenatal history improvement
midinfancy with otherwise movements (maternal through first year of
normal that resolve diabetes, use life
development with sleep in of SSRI/SNRI
an otherwise or other
normal infant medication,
maternal thyroid
abnormalities)
Check infant’s
TSH and glucose
Shuddering Infancy → Infant with Normal None None

midchildhood episodes of brisk
shivering/
shuddering; may
be provoked by
stimuli, infant is
typically not
bothered by
episodes
Benign Infancy → 2 y Myoclonic jerks Normal EEG is typically Follow to ensure

myoclonus not associated indicated to rule resolution with
of infancy with irritability or out seizure time
altered mental
status
Self- Infancy → Episodes are Normal; home Can be difficult None

stimulation early often described videos to distinguish
childhood and by family as capturing from seizure if no
beyond whole-body episodes are video available or
convulsions, but very helpful if event does not
when witnessed, for diagnosis occur in office, so
there is typically EEG is often
rocking, pelvic indicated to rule
thrusting, or out seizure
self-induced
stimulation of
groin region
CONTINUED ON PAGE 1485
1484 OCTOBER 2022

CONTINUED FROM PAGE 1484
Common
chief
Shaking Sandifer Infancy → first Episodes of back Normal Can be difficult Gastrointestinal
spell, rule syndrome year of life arching/ to distinguish referral for
out seizures, stiffening often from infantile treatment of
possible associated with spasms, so EEG is underlying cause
infantile irritability due to often indicated
spasms gastrointestinal
reflux or hiatal
hernia
Abnormal Paroxysmal Infancy → Episodes of Normal Consider EEG if Consider risk of

movements, tonic upgaze midchildhood upward eye episodes are migraine in future
rule out deviation lasting concerning for
seizures minutes seizure
Benign Infancy → first Segmental Normal None if history Follow to ensure

dystonia of year of life dystonia, and examination resolution with
If an episode
infancy typically of are reassuring for time
is witnessed
upper limb, benign dystonia
on
which resolves diagnosis
examination
with voluntary
(typically
movement
shoulder
abduction
with forearm
pronation and
wrist flexion),
dystonic
posture
should
resolve with
voluntary
movement
and typically
does not
interfere with
function

CONTINUED
CONTINUED FROM FROM PAGE 1485
PAGE 1485
Common
chief
Abnormal Tics Early Highly variable Normal; may None Continued

movements, childhood, but often observe tics follow-up with
rule out often peaking involves in office or on neurology as
seizures in school- repeated video needed
aged children episodes of
Education of
and/or suppressible/
patient and family
adolescence, distractable
is critical
may continue movements or
into sounds such as Evaluate for typical
adulthood throat clearing, comorbidities such
eye rolling, or as anxiety,
facial grimacing; obsessive-
tics can also be compulsive
quite complex disorder, attention
involving any deficit
body regions hyperactivity
disorder
Conservative
management is
often appropriate;
medications can be
considered for
persistent,
disruptive, painful,
or embarrassing
tics
Abnormal Stereotypies Infancy or early Typically Normal None None

movements, childhood → bilateral
May elicit by
rule out midchildhood stereotyped
exciting the
seizures, rule or adolescence hand
child in the
out autism movements
examination
often associated
room
with facial
grimacing or Video
dramatic facial examination
expression from home
can be very
helpful
Neck Benign Infancy → Episodes of Look for Consider genetic Consider risk of
twisting paroxysmal midchildhood neck/head hypertrophy testing for migraine in future
torticollis twisting/tilting of unilateral primary dystonia
lasting hours to neck muscles if progressive or
days; may be other body
isolated or occur regions are
with pallor, involved
vomiting,
irritability, or
ataxia
1486 OCTOBER 2022

Common
chief
Head Spasmus Infancy → Episodes of Nystagmus, Brain MRI Regular neurology

nodding nutans resolves in a head bobbing head indicated to rule follow-up; typically
few months with neck bobbing, out intracranial resolves by age
twisting and torticollis lesion 3-4 y
abnormal eye
Ophthalmologic
movements
examination is
indicated
Consider EEG if
concern for
seizures
Head Early Episodic head Episodes of None Rule out visual

nodding childhood → nodding without lateral, impairment,
resolves after nystagmus or vertical, or oculomotor
a few months torticollis oblique head dysfunction, or
but can nodding brain malformation
persist in when sitting
childhood or vertical,
absent when
lying down
EEG = electroencephalogram; SNRI = serotonin norepinephrine reuptake inhibitor; SSRI = selective serotonin reuptake inhibitor;
TSH = thyroid-stimulating hormone.
a
Data from Bonnet C, et al, Mov Disord,5 and Kurian MA and Dale R, Continuum (Minneap Minn).6

child is not distressed by their stereotypies but is actually enjoying performing

the movements can be reassuring for worried parents.
Stereotypies typically do not require intervention. Often, stereotypies wane
with development, especially as children gain more advanced language skills and
are better able to express themselves verbally. For those children who have
particularly intense stereotypies that are interfering with their ability to pay
attention and learn in school, or if the child is bothered by their own stereotypies,
some behavioral interventions (modification of environment, scheduled breaks,
quiet space for destimulation) or therapy methods (habit reversal, competing
response) may be helpful. Stereotypies typically do not respond to medications,
and daily treatment with medication for stereotypy suppression is not indicated.
Tics and Tourette Syndrome

Chronic motor and vocal tics or Tourette syndrome is a common diagnosis in
school-aged children and adolescents. Correct diagnosis of tics and Tourette
syndrome is essential to appropriate management.9 Tics are stereotyped movements
or sounds, typically associated with an urge to perform, and have some element
of suppressibility. A diagnosis of Tourette syndrome requires tic onset before the age
of 18, with a combination of at least one vocal and one motor tic occurring over a
duration of 1 year or more (motor and vocal tics do not need to co-occur), with tics
occurring nearly daily, with tic-free periods of less than 3 months in duration.
Children with tics who do not meet diagnostic criteria for Tourette syndrome may
be classified as having transient tic disorder. It is important to ask about prior tics or
“habits” that may have gone unrecognized at a younger age. Additionally, the sense
of urge and suppressibility are often difficult for the young patient to recognize or
report. It can be helpful to ask the child if they “feel like the tics have to come out,”
or “What happens if you try to stop the tics?” Children may give very creative
descriptions or drawings of their tic-associated urge if asked to do so.
Tics may be simple (blinking, grimacing, throat clearing) or complex and can
involve any part of the body. Unlike pathologic movement disorders, tics commonly
pause during voluntary movement and speech and may quickly resume when the
child is no longer engaged in speaking or another activity. Tics fluctuate in severity
and frequency over time and may wax and wane within the hour, day, or week. This
timing may correlate with more exciting or stressful times of day (in the morning on
the way to school, at the end of the school day), week (improved on weekends,
worse during the weekdays), or year (classically increased at the start of the school
year, improved over the summer). Tics typically do not occur during sleep but may
worsen at times of transition to sleep such as bedtime or when waking in the middle
of the night. Consider provoking factors, including other medications (especially
stimulants), caffeine intake, and emotional or physical stressors. Typical tic
comorbidities include anxiety, depression, obsessive-compulsive disorder, and
attention deficit hyperactivity disorder.
Although many children with tics or Tourette syndrome will never require
medication, appropriate use of tic-suppressing medications in those who develop
tics that are painful, embarrassing, or interfering with learning, in addition to
appropriate management of tic comorbidities, is essential to management.10-14
Nonpharmacologic intervention such as Comprehensive Behavioral Intervention
for Tics (CBIT) should be considered for patients who acknowledge their tics and
are motivated to learn to suppress them.15-18 CBIT can be completed in person or
using online resources.17 Understanding the association with urge can be helpful
1488 OCTOBER 2022

in guiding tic suppression therapies such as CBIT. Several algorithms for tic KEY POINTS
treatment have been published.9,19-22
● Benign motor
Recognition of tic comorbidities is essential to optimizing medication choices stereotypies typically do not
for patients. In general, first-line tic treatment includes CBIT with or without α2- require intervention.
adrenergic agonists (ie, guanfacine, clonidine); second-line agents are typically
non–dopamine blockers (eg, topiramate, selective serotonin reuptake inhibitors ● Urge and suppressibility
are key features of tics.
[SSRIs] and serotonin norepinephrine reuptake inhibitors [SNRIs], and muscle
relaxants such as baclofen); and third-line agents include dopamine blockers (such ● Nonpharmacologic
as typical and atypical antipsychotics). The most common side effects of first- and interventions for tics include
second-line agents include fatigue (guanfacine, clonidine, baclofen), mood comprehensive behavioral
changes (SSRI/SNRI), and appetite suppression (topiramate) but are typically well intervention for tics.
tolerated and dose dependent. Dopamine-blocking agents have a more complex ● Movement disorders in
side effect profile and require closer monitoring and are thus typically reserved for children can present with
more severe and/or medication-refractory tics. Surgical intervention using deep phenomenology similar to
brain stimulation (DBS) is typically reserved for adult patients with severe, that in adults and may be
categorized as chorea,
medication-refractory, and highly disabling Tourette syndrome.23,24 Medication
dystonia, myoclonus,
selection can be optimized by paying particular attention to identifying key drivers tremor, ataxia, spasticity,
for an individual with tics. For example, in a child who is particularly anxious, and parkinsonism.
treating the anxiety can contribute to dramatic tic reduction.
● Unlike adults, children
often present with a mixed
PATHOLOGIC MOVEMENT IN CHILDREN movement disorder; thus,
Movement disorders in children can present with phenomenology similar to that discerning the primary
in adults and may be categorized as chorea, dystonia, myoclonus, tremor, ataxia, phenomenology can be
spasticity, and parkinsonism. Unlike adults, children often present with a mixed challenging but remains the
foundation of accurate and
movement disorder; thus, discerning the primary phenomenology can be timely diagnosis and
challenging but remains the foundation of accurate and timely diagnosis and treatment.
treatment. Using the categories of paroxysmal movement disorders, disorders
with secondary noninherited causes, and hereditary or metabolic disorders can ● Sydenham chorea is a
common cause of treatable
help to build an informed differential diagnosis (TABLE 11-2). As the field of
acute-onset chorea in
neurogenomics moves forward, the list of identifiable etiologies of pediatric children. Early recognition
movement disorders is rapidly growing. A detailed review of each of these and diagnosis allow for
disorders is outside the scope of this article. The focus here is on accurate appropriate intervention
with steroids for symptom
identification of clinical movement disorder phenomenology in children and the
management.
most common diagnoses for each phenomenology.
Chorea
Chorea consists of brief, variable, unpredictable, nonstereotyped, nonsuppressible
irregular movements (CASE 11-1). Movements can be fast and chaotic or may have
an athetotic quality with slow, writhing action. Chorea can affect the entire body
and is most commonly seen in the head and neck and upper extremities. Chorea is
not sustained like dystonia and is slower and more fluid than myoclonus.
Amplitude is variable. Chorea often worsens with voluntary movement, and
specific examination maneuvers can be used to elicit chorea. Children with mild
low-amplitude chorea may seem fidgety, restless, or hyperactive. Higher-
amplitude chorea may present as ballismus, with the arms or legs appearing to
fling away from the body in an uncontrolled manner. Children often attempt to
minimize the chorea, sometimes sitting on their hands or adopting other positions
to reduce intrusions and excessive movement. Young children, especially those
who are prone to inattention and hyperactivity, may have very mild choreiform
movements that can be considered normal, classified as physiologic chorea.

TABLE 11-2 Categorical Framework for Disorders Associated With Pathologic

Movements in Childrena
Paroxysmal movement disorders

◆ Ataxia
◇ Episodic ataxias
→ Without myokymia
→ With myokymia
→ With paroxysmal choreoathetosis
◇ Paroxysmal tonic upgaze with ataxia
◇ Familial metabolic periodic ataxias
◇ Others
◆ Chorea/dystonia
◇ Paroxysmal dystonic choreoathetosis
◇ Paroxysmal kinesigenic choreoathetosis
→ Intermediate or exertion induced
→ Paroxysmal hypnogenic dyskinesia
→ Secondary paroxysmal dyskinesias
◇ Postpump chorea
◆ Startle
◇ Hyperekplexia
◇ Startle epilepsy
◇ Brainstem reticular reflex myoclonus
◇ Others
◆ Stereotypies
◇ Simple
◇ Complex motor
◇ With intense imagery
◆ Dyskinetic
◇ Restless legs syndrome
◇ Paroxysmal kinesigenic dyskinesia
◇ Paroxysmal nonkinesigenic dyskinesia
◆ Tics
◇ Transient
◇ Chronic motor
◇ Chronic vocal
◇ Tourette syndrome
1490 OCTOBER 2022

Secondary noninherited causes of movement disorders

◆ Structural
◇ Perinatal cerebral injury
→ Hypoxic-ischemic encephalopathy
→ Kernicterus
◇ Tumors
◇ Trauma
◇ Burns
◇ Hydrocephalus
→ Shunt malfunction
◆ Vascular
◇Stroke
◇Vascular malformation
◇Intracranial hemorrhage
◇Vasculitis
◆ Infection/postinfectious/autoimmune encephalitis
◇ Influenza
◇ Polio
◇ Mumps
◇ Measles
◇ Varicella
◇ St Louis
◇ Coxsackie
◇ Zika
◇ TORCH (toxoplasmosis, other infections, rubella, cytomegalovirus infection, and herpes
simplex)
◇ Human immunodeficiency virus (HIV)
◇ Subacute sclerosing panencephalitis
◇ N-methyl-D-aspartate receptor (NMDA-R)
◇ Postinfectious
→ Sydenham chorea
→ Acute disseminated encephalomyelitis (ADEM)
◇ Paraneoplastic
◆ Drug/toxin
◇ Dopamine related (eg, neuroleptics, metoclopramide, reserpine, α-methyldopa, L-dopa),
antiepileptic drugs (eg, lacosamide, valproate, phenytoin, vigabatrin)
◇ Chemotherapy (eg, vincristine, cytarabine, doxorubicin)

CONTINUED FROM PAGE 1491 CONTINUED FROM PAGE 1491

◇ Other (eg, calcium channel blockers, captopril, lithium, selective serotonin reuptake
inhibitors [SSRIs], buspirone)
◇ Toxins (eg, 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine [MPTP], manganese, carbon
monoxide, cyanide, methanol, disulfiram)
◇ Ingestion
◇ Postanesthesia
◆ Hormonal disorders
◇ Thyroid
◇ Addison disease
◇ Hypoparathyroidism
◇ Diabetes
◆ Associated with general medical conditions
◇ Systemic lupus erythematosus
◇ Polycythemia
◇ Antiphospholipid syndrome
◆ Psychogenic
Hereditary/metabolic disorders associated with extrapyramidal symptoms
◆ Pediatric neurotransmitter diseases
◇ Tetrahydrobiopterin (BH4) metabolism
→ BH4 defects with hyperphenylalaninemia:
– Autosomal recessive form of guanosine triphosphate-1 cyclohydrolase deficiency
– 6-Pyruvotetrahydropterin synthase deficiency
– Dihydropteridine reductase deficiency
→ BH4 defects without hyperphenylalaninemia:
– Dopa-responsive dystonia
– Dihydropteridine reductase deficiency without hyperphenylalaninemia
– Sepiapterin reductase deficiency
◇ Primary defects of monoamine biosynthesis
→ Tyrosine hydroxylase deficiency
→ Aromatic L-amino acid cocarboxylase deficiency
◇ Transporter defect
→ Glucose transport defect (GLUT1) deficiency
◇ Juvenile Parkinson disease
◆ Trinucleotide repeat diseases
◇ Juvenile Huntington disease
◇ Dentatorubro-pallidoluysian atrophy (DRPLA)
◇ Spinocerebellar atrophy type 3 (Machado-Joseph disease) and type 7
1492 OCTOBER 2022

◇ Olivopontocerebellar atrophy type 1
◆ Metabolic disorders
◇ Mineral accumulation
→ Wilson disease
→ Neurodegeneration with brain iron accumulation
– Pantothenate kinase–associated neurodegeneration
– Neuroferritinopathy
– Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal
degeneration (HARP) syndrome
→ Fahr syndrome
◇ Lysosomal disorders
→ Neuronal storage diseases
– GM1 gangliosidosis
– GM2 gangliosidosis
– Gaucher disease
– Niemann-Pick disease type C
– Fabry disease
– Mucolipidosis
– Sialidosis
→ Neuronal ceroid lipofuscinosis
→ White-matter (dysmyelinating) disorders
– Krabbe disease
– Metachromatic leukodystrophy
– Pelizaeus-Merzbacher disease
◇ Amino acid and organic acid disorders
→ Glutaric aciduria type 1
→ Methylmalonic acidurias
→ Homocystinuria
→ Hartnup disease
→ 2-Hydroxyglutaric acidurias
→ 3-Methylglutaconic acidurias
→ Nonketotic hyperglycinemia
→ Propionic acidurias
◇ Mitochondrial disorders
→ Leigh disease
→ Leber hereditary optic neuropathy
→ Fumerase deficiency

CONTINUED FROM PAGE 1493 CONTINUED FROM PAGE 1493

◇ Other metabolic disorders
→ Succinic semialdehyde dehydrogenase deficiency
→ Guanidinoacetate methyltransferase deficiency
→ Molybdenum cofactor deficiency
→ α-Ketoglutaric acidurias
→ Biotinidase and biotin deficiency
→ Carbohydrate-deficient glycoprotein deficiency
→ Congenital folate/B12 problems
→ Familial glucocorticoid deficiency
→ Glucose transport defects
→ Triose phosphate isomerase deficiency
→ Vitamin E deficiency
Other genetic causes
◆ Lesch-Nyhan syndrome
◆ Ataxia-telangiectasia
◆ Neuroacanthocytosis
◆ Genetic (DYT) primary dystonia
◆ Pallidal degenerations (ie, familial striatal necrosis, infantile bilateral striatal necrosis,
progressive pallidal degeneration)
◆ Pelizaeus-Merzbacher disease
◆ Canavan disease
◆ NGLY1 deficiency
◆ GNAO1 encephalopathy
◆ ADCY5-related dyskinesia
◆ NKX2-1-related disorders
◆ FOXG1 syndrome
a
Data from Singer HS, Semin Pediatr Neurol.1
Thus, careful history taking to explore timing, symptom onset, comorbidities,

and other factors is essential to determine the appropriate workup.
ACUTE CHOREA. The timing of chorea onset can be very informative with regard to
etiology. Acute chorea in children is most commonly due to toxic ingestion or
infectious or postinfectious causes.
SYDENHAM CHOREA. The most common type of acute-onset chorea in school-aged,

previously healthy children is Sydenham chorea, a postinfectious autoimmune
chorea. Sydenham chorea classically occurs as a sequela of group A β-hemolytic
streptococci infection but has been noted to occur in association with other
1494 OCTOBER 2022

infectious causes. Sydenham chorea develops quickly, over hours to days.
History should reveal prior infection (fever, cough, sore throat) in the past
6 months. Prior infection may have been mild or subtle. If there is no history of a
clear infection but suspicion for Sydenham chorea is high, then antistreptolysin
O (ASO) and anti-deoxyribonuclease B (anti-DNase B) titers should be obtained.
If history and examination suggest Sydenham chorea, then elevated ASO or
anti-DNase B titers can serve as relatively sensitive predictors of the disorder. If
suspicion for Sydenham chorea is low, then ASO and anti-DNase B titers are less
useful, and interpretation of these results can be complicated. In a child with
A 5-year-old boy with hypoplastic left heart with remote surgical repair CASE 11-1
presented to the emergency department with new uncontrolled
movements 10 days after discharge from a recent hospitalization for
multiple infections. His mother reported that he could no longer sit, walk,
or feed himself independently. Typically a very talkative child, he was
now refusing to speak.
On examination, he was afebrile with normal vital signs. He was in no
distress, with normal breathing, good perfusion, soft abdomen, and no
rashes. He had a well-healed sternotomy scar, consistent with his history
of cardiac surgery. He appeared very wiggly and restless and seemed
irritable but was oriented, alert, and able to at least attempt to follow
commands, although he was limited by his inability to control his arms,
legs, and head. He was lying in bed, refusing to sit up or speak. His gaze
was conjugate and his extraocular movements were intact, but his
excessive head wiggling caused him to blink frequently and struggle to
follow the examiner around the room. When supported in a seated
position, he was unable to hold his head still, and he had nearly
continuous writhing movements of his trunk. When reaching for objects
he demonstrated a variety of extra movements, which worsened with
intentional voluntary movement. In particular, his fingers appeared to
hyperextend when he was asked to open his hands, and, upon squeezing
the examiner’s fingers on command, he exhibited repetitive squeezing
movements of both hands. When asked to stick out his tongue, although
he seemed compliant, he could not keep his tongue still enough for the
examiner to adequately examine his mouth.
It was discovered that during his recent hospitalization he was
diagnosed with COVID-19 complicated by a group B streptococci
superinfection. He had been treated for both infections appropriately
and was discharged home, where he was well until onset of these new
movements.
Brain MRI and EEG were normal. Tests for erythrocyte sedimentation rate
and anti-deoxyribonuclease B (anti-DNase B) were equivocal (VIDEO 11-1).
The patient was diagnosed with Sydenham chorea and treated with a COMMENT
course of steroids. He experienced dramatic improvement within days of
treatment.

CASE 11-2 An 11-year-old boy presented with a 6- to 8-year history of progressive

generalized dystonia that reportedly began in one ankle (it was thought to
be related to a minor sprain) and progressed over the next several years
to involve his entire body. He initially had some symptomatic relief with
benzodiazepines, but over time his dystonia spread and worsened in
severity, and it had become refractory to multiple medications including
clonazepam, baclofen, trihexyphenidyl, levodopa, and botulinum toxin
injections.
He was referred to the movement disorders clinic for further
evaluation. On initial examination, he had severe generalized dystonia
with notable cervical dystonia featuring retrocollis and laterocollis, jaw
opening dystonia for which his mother had tied a scarf under his chin to
aid with jaw closure, risus sardonicus, dystonic tremor, and dystonic
posturing of his arms and legs. His dystonia worsened with muscle
activation for voluntary movement. His truncal dystonia had contributed
to notable scoliosis. He was exceptionally thin with well-defined
musculature and minimal body fat. He was cognitively intact, and
receptive language was intact. Expressive language was severely limited
by orolingual dystonia and dystonic dysarthria; however, he could
attempt to follow verbal commands to participate in examination
maneuvers such as the finger-nose-finger test and manual muscle testing
(VIDEO 11-2). He was dependent on nasogastric feeding, as he was unable to
swallow safely, and he used a wheelchair. His current medications were
levodopa/carbidopa, trihexyphenidyl, baclofen, clonazepam,
gabapentin, dantrolene, and regular-interval botulinum toxin injections;
all interventions were optimized to maximum tolerated doses.
Prior brain MRI demonstrated nonprogressive mild cerebellar atrophy
with no other abnormality. He underwent extensive genetic testing
including whole exome and whole genome sequencing, which were
unrevealing.
After multidisciplinary evaluation by specialists in orthopedic surgery,
child neurology, pediatric neurosurgery, physical and occupational
therapy, speech therapy, neuropsychology, and social work and review
by the institutional deep brain stimulation (DBS) review board, the patient
underwent successful implantation of bilateral globus pallidus internus
DBS stimulators. He had marked improvement in his dystonia and was
able to wean off nearly all of his medications with the exception of
low-dose clonazepam.
COMMENT Although the history supported a high suspicion for DYT1 as a cause of this
child’s progressive generalized dystonia, genetic testing did not identify a
cause. It is important to consider pallidal DBS even in cases where genetic
testing is unrevealing.
1496 OCTOBER 2022

subacute chorea and absence of elevated ASO or anti-DNase B titers, an KEY POINTS
alternative diagnosis of systemic lupus erythematosus (SLE) or antiphospholipid
● Symptom severity in
antibody syndrome should be considered. Of course, other etiologies such as toxic Sydenham chorea is highly
(ingestion) or structural (stroke) must be considered at the time of diagnosis, variable, but children
depending on history and other examination findings. Although brain MRI is not commonly present with
necessary for children with clear cases of Sydenham chorea, it is often obtained in complaints of new
clumsiness (dropping items,
an effort to rule out other causes of acute-onset chorea. falling), gait instability,
Symptom severity in Sydenham chorea is highly variable, but children irritability, poor
commonly present with complaints of new clumsiness (dropping items, falling), coordination, and possible
gait instability, irritability, poor coordination, and possible changes in speech and changes in speech and
behavior.
behavior. On examination, classic findings of spooning sign (child is asked to
hold hands outstretched in front of them at shoulder height resulting in ● Sydenham chorea is a
hyperextension of fingers interrupted by choreic intrusions), touchdown sign form of rheumatic disease;
(child is asked to sit still with arms at shoulder height with elbows flexed at 90 thus, screening and
degrees and hands facing forward resulting in choreic intrusions disrupting arm monitoring for associated
cardiac involvement are
position), milkmaid’s grip (child is asked to use all fingers of one hand to squeeze imperative.
the examiner’s hand, but the child’s grip is interrupted with choreic intrusions
denoting motor impersistence), and tongue darting can help solidify the diagnosis. ● Genetic causes for chorea
These findings are not specific to Sydenham chorea but can be observed in other should be considered in any
child with new-onset
forms of chorea and are not necessary to provide the diagnosis of Sydenham chorea. subacute progressive
Sydenham chorea is a form of rheumatic disease; thus, screening and chorea, especially if
monitoring for associated cardiac involvement are imperative. Chronic penicillin accompanied by other
prophylaxis is indicated to reduce the risk of recurrent chorea but also for neurologic or psychiatric
features.
protection against carditis and development of secondary cardiac valve disease.
ECG, echocardiography, and evaluation by a cardiologist are appropriate. Steroid
treatment can shorten the duration of chorea and reduce symptom severity.
OTHER ACUTE CHOREA. In children with congenital heart disease who have
undergone surgical repair or bypass, postpump chorea should be considered in
the case of acute onset of choreiform movements in the postoperative period.
CHRONIC CHOREA. Chronic chorea may be acquired, as in children with structural

brain injury such as hypoxic-ischemic encephalopathy, cerebral palsy, and
stroke; toxin induced; autoimmune; or iatrogenic. Genetic causes of chorea
should be considered in any child with new-onset subacute progressive chorea,
especially if accompanied by other neurologic or psychiatric features. Genetic
causes of chorea in children include benign hereditary chorea, several
neurodegenerative diseases (Huntington disease, glutaric aciduria, Wilson
disease, GNAO1 encephalopathy, mitochondrial disease, Lesch-Nyhan
syndrome, phenylketonuria, neuroacanthocytoses), ataxia syndromes
(Friedreich ataxia, ataxia-telangiectasia, ataxia with oculomotor apraxia types 1
and 2, dentatorubral-pallidoluysian atrophy, spinocerebellar ataxia), and many
other disorders (ie, ADCY5, PDE10A, NKX2-1, GLUT-1, FOXG-1).
For an in-depth review of other causes of chorea, refer to the article “Chorea” by
Erin Furr Stimming, MD, FAAN, and Danny Bega, MD,25 in this issue of Continuum.
Dystonia
Dystonia is characterized by involuntary simultaneous contraction of opposing
muscles, leading to abnormal posture and impaired function of the affected area
(CASE 11-2). Dystonia can involve a particular part or region (focal, segmental)

or all (generalized) of the body. Dystonia is commonly mistaken for spasticity

in children who present with abnormal increased tone. Dystonia will often
“melt” away during sleep or with relaxation, whereas spastic muscles will remain
tight regardless of state. Dystonia often worsens with activity and may be
task-dependent, occurring only with specific motor sequences (as can be seen
in disorders such as writer’s cramp or musician’s dystonia). Also, unlike with
spasticity, patients with dystonia may be able to perform a “dystonic trick” or
geste antagoniste, a maneuver specific to the affected individual that allows them
to relieve the dystonia. Dystonic tremor may have a “null point,” a position in
which the tremor is minimized. In children, the clinical distinction between
dystonia and spasticity (and other movement disorders) is essential in
determining accurate disease etiology and appropriate treatments. Children with
increased tone are too often given the diagnosis of cerebral palsy, potentially
leading to a missed opportunity for appropriate diagnosis and intervention.
Children with basal ganglia injury related to cerebral palsy, stroke, or another
insult may present with a combination of movement disorders and can have
concurrent spasticity, dystonia, and chorea. Understanding which movement
disorder is most prominent can guide treatment decisions and avoid unintended
worsening of a concurrent movement problem. For example, in a child with
spasticity and dystonia, surgical intervention must be considered carefully, as
certain interventions for spasticity (selective dorsal rhizotomy) may improve the
spasticity but “unmask” concurrent dystonia, resulting in worsened motor
function.
Dystonia should be considered in any child with sustained abnormal postures.
Unlike tics, dystonia is not associated with urge, suppressibility, or a sense of
relief. Although some tics may appear to have dystonic features, careful history
and observation will help the examiner distinguish between the two.
TABLE 11-3 Common or Treatable Primary Dystonias of Childhood
Inheritance/gene
Diagnosis (protein) Name Presentation Intervention
DYT1 Autosomal dominant/ Early-onset Initial onset in arm or leg with Deep brain stimulation (DBS)
TOR1A (Torsin A) generalized torsion generalization
dystonia
DYT5 Autosomal dominant/ Dopa-responsive Childhood-onset progressive Levodopa

GCH1 (GTP dystonia (Segawa dystonia with dramatic
cyclohydrolase 1) disease) response to levodopa
DYT6 Autosomal Adolescent-onset Focal/segmental dystonia that Symptomatic, consider DBS

dominant/THAP1 dystonia of mixed progresses to generalized
type dystonia
DYT11 Autosomal Myoclonus dystonia Prominent myoclonus with Symptomatic, consider DBS
dominant/SGCE dystonia
(ε-sarcoglycan protein)
DYT12 Autosomal dominant/ Rapid-onset dystonia Abrupt onset of dystonia with Typically resistant to
ATP1a3 (Na/K ATPase parkinsonism rapid progression over hours to dystonia medications; may
α3 subunit) weeks consider DBS
1498 OCTOBER 2022

Dystonia can be primary (related to a genetic cause) or secondary (acquired, KEY POINTS
often with a structural etiology such as cerebral palsy, infection, kernicterus,
● For the child with
stroke, toxins, trauma, or autoimmune etiologies) (TABLE 11-3). Dystonia is a spasticity and dystonia,
prominent feature in several syndromes (TABLE 11-426). surgical intervention must
Treatment options are similar to those in adults and include both medications be considered carefully, as
and surgical interventions such as DBS. It is always prudent to trial levodopa for certain interventions for
spasticity (in particular,
any child with dystonia to rule out a treatable dopa-responsive dystonia. For a
selective dorsal rhizotomy)
detailed discussion of medical and surgical treatment of dystonia, including may improve the spasticity
dystonic storm, refer to the article “The Dystonias” by Christopher Stephen, but “unmask” concurrent
MB ChB, FRCP, SM,27 in this issue of Continuum. dystonia, resulting in
worsened motor function.
Myoclonus ● Surgical candidates

Myoclonus is characterized by rapid and short muscle jerks that are simple should be evaluated by a
movements. Myoclonus is unpredictable and appears much faster than voluntary multidisciplinary review
twitching or jerking. It is helpful to identify and describe the distribution (focal, board including specialists
in neurology, neurosurgery,
segmental, multifocal, generalized), origin (cortex, brainstem, spinal cord), state and physical, occupational,
(spontaneous at rest or with activity versus stimulus induced), and timing and speech therapy, as well
(irregular versus rhythmic). Both positive (occurring as sudden muscle as undergo a thorough
contraction) and negative (occurring as sudden muscle relaxation) myoclonus psychosocial evaluation.
may be observed.
● Surgical intervention with
It is important to recognize benign forms of myoclonus in children. Examples pallidal deep brain
of benign physiologic myoclonus include hiccups, exercise- or anxiety-induced stimulation should not be
myoclonus, benign neonatal sleep myoclonus, or hypnic jerks in older children. delayed for children with
medication-refractory
One of the most common myoclonus-related neurology consultations is for
progressive dystonia.
the infant with benign neonatal sleep myoclonus. Parents may present with
their otherwise healthy infant with reports of “jerking” while falling asleep or ● It is always prudent to
during sleep (typically during states of arousal). Key findings include an trial levodopa for any child
otherwise normal healthy infant with reported absence of jerks while awake with dystonia to rule out a
treatable dopa-responsive
and a history consistent with cessation of jerks when the infant is awakened. dystonia.
These babies are often admitted to the hospital by a concerned provider for
continuous EEG to rule out infantile spasms, but careful history taking and ● Examples of benign
examination can avoid unnecessary testing and medical escalation. Education physiologic myoclonus
include hiccups, exercise-
and reassurance of caregivers are appropriate, and no medication or other
or anxiety-induced
treatment is indicated. myoclonus, benign neonatal
In contrast to benign physiologic myoclonus, children may present with sleep myoclonus, or hypnic
hyperekplexia (a stimulus-induced exaggerated startle response), which jerks in older children.
warrants additional evaluation with genetic testing. Symptomatic treatment with
● The most common causes
clonazepam or other benzodiazepines may be effective. Some hereditary of tremor in children are the
hyperekplexias spontaneously improve or resolve, whereas others may be primary tremors:
associated with other neurologic impairments such as cognitive delay or epilepsy. developmental tremor,
Additional conditions associated with prominent myoclonus in childhood are enhanced physiologic
tremor, and essential
listed in TABLE 11-5. tremor.
Tremor
Tremor is a rhythmic, relatively symmetric oscillatory involuntary movement of
a body part.28 Tremor can occur as an isolated phenomenon or in conjunction
with other movement disorders in children. The most common causes of tremor
in children are the primary tremors: developmental tremor, enhanced
physiologic tremor, and essential tremor. Secondary tremor results from injury
affecting circuitry in the basal ganglia, brainstem, or cerebellum and may be

TABLE 11-4 Childhood Disorders With Prominent Dystoniaa
Autosomal recessive
◆ Aromatic L-amino acid decarboxylase deficiency
◆ Ataxia-telangiectasia
◆ Dopamine transporter deficiency
◆ Gangliosidoses
◆ Glutaric aciduria
◆ Hartnup disease
◆ Homocystinuria
◆ Juvenile Parkinson disease
◆ Metachromatic leukodystrophy
◆ Methylmalonic aciduria
◆ Niemann-Pick disease type C
◆ Neuroferritinopathy
◆ Pantothenate kinase–associated neurodegeneration
◆ Sepiapterin reductase deficiency
◆ Tyrosine hydroxylase deficiency
◆ Thiamine transporter 2 deficiency
◆ Triose phosphate
Autosomal dominant
◆ Dentatorubro-pallidoluysian atrophy (DRPLA)
◆ Hereditary spastic paraparesis with dystonia
◆ Huntington disease
◆ Spinocerebellar ataxias
Mitochondrial
◆ Leber disease
◆ Leigh syndrome
◆ Myoclonic epilepsy with ragged red fibers (MERRF)
◆ Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS)
X-linked
◆ Dystonia-deafness
◆ Lesch-Nyhan syndrome
◆ Pelizaeus-Merzbacher disease
◆ Rett syndrome
Reprinted with permission from Singer H, et al, Saunders.26 © 2015 Academic Press.
1500 OCTOBER 2022

caused by a variety of mechanisms including toxins, medications, structural
lesions, and genetic or metabolic disorders.
On examination, fine and gross motor movements should be observed.
Tremor can be enhanced by asking the child to perform specific tasks such as
pouring water between cups, bringing a cup or bottle to their mouth, reaching
for small objects, coloring, or drawing. Even very young children can often
cooperate with handwriting or drawing samples and freehand spiral testing.
The child can be observed buttoning their coat, collecting toys into a bag, or
Disorders With Prominent Myoclonus Presenting in Infancy and Childhood TABLE 11-5
Startle syndromes
◆ Hereditary hyperekplexias
◆ Symptomatic startle disorders
◆ Startle epilepsy
◆ Neuropsychiatric startle syndromes
Primary myoclonic disorders
◆ Essential myoclonus
◆ Myoclonus-dystonia (DYT11)
◆ Benign myoclonus of early infancy
Epileptic myoclonus without encephalopathy
◆ Juvenile myoclonic epilepsy
◆ Benign familial myoclonic epilepsy
◆ Myoclonia with childhood absence epilepsies
Secondary myoclonus
◆ Opsoclonus-myoclonus ataxia syndrome
◆ Subacute sclerosing panencephalitis
◆ Postanoxic myoclonus
◆ Epilepsia partialis continua, Rasmussen encephalitis, myoclonia continua
Progressive myoclonic epilepsies
◆ Mitochondrial myopathies
◇ Myoclonic epilepsy with ragged red fibers (MERRF)
◆ Unverricht-Lundborg disease
◆ Lafora disease
◆ Neuronal ceroid lipofuscinosis
◆ North Sea progressive myoclonus epilepsy with ataxia
◆ Sialidosis
◆ Angelman syndrome
Others
◆ Autosomal dominant cortical myoclonus without epilepsy
◆ Hemifacial spasm

manipulating their parent’s smartphone. In infants and toddlers, feeding can be

observed. Children will naturally find ways to minimize their tremor. Encourage
the child to sit without leaning against a wall or the back of a chair to brace
themselves. The examiner should pay careful attention to when the tremor is
present and when it is absent. Is the tremor present at rest or only with action? Is
it unilateral or bilateral? Are there other accompanying neurologic signs such as
abnormal eye movements, ataxia, complaints of headache or dizziness, or
changes in speech or behavior?
Developmental tremor and enhanced physiologic tremors tend to fluctuate
and may be intermittent or observed only during specific tasks. The frequency is
often faster and the amplitude lower than with essential tremor. Developmental
tremor typically improves with age, whereas essential tremor persists or worsens.
Careful family history and examination of accompanying family members at the
time of neurologic examination is especially important in ruling in or out
essential tremor, although a family history of tremor does not ensure that a
child’s diagnosis is essential tremor, and other etiologies should be considered.
Education about the importance of lifestyle management is central to
empowering young patients to attain good tremor control. Typical tremor-provoking
stimuli include fatigue, poor sleep, anxiety, caffeine intake (coffee, tea, energy
drinks), skipping meals, many medications commonly used in children and
adolescents (SSRIs or SNRIs, stimulants, albuterol, antiseizure medications such
as valproate and phenytoin), and physiologic as well as emotional stressors.
Benign tremor can often be managed with only lifestyle modifications, avoiding
use of daily medications. Occupational therapy can be particularly helpful in
TABLE 11-6 Suggested Approach to the Child With Ataxiaa
1 Identify time-course group: acute, subacute, chronic nonprogressive, chronic progressive, or

episodic
2 Identify extracerebellar signs/symptoms and other accompanying neurologic or medical
conditions to help refine the differential diagnosis
3 Obtain an accurate three-generation family history
4 Initial laboratory tests:
A Acute onset: drug screen, specific testing for known ingestion, infectious workup if
indicated
B Chronic onset: α-fetoprotein, vitamin E, coenzyme Q10, IgG subclasses, albumin, creatine
kinase, and cholesterol panel
5 Neuroimaging: brain MRI with particular attention to presence or absence of cerebellar
atrophy, cerebral volume loss, white matter lesions, or basal ganglia lesions
6 Genetic testing: single gene, panel, whole exome sequencing; special consideration of
triplet repeat expansions (some spinocerebellar ataxias, dentatorubro-pallidoluysian
atrophy [DRPLA], and Friedreich ataxia)
7 Referrals: physical, occupational, and speech therapy; other subspecialists as indicated
(such as cardiology and endocrinology for Friedreich ataxia)
IgG = immunoglobulin G.
a
Data from Singer HS, et al29 and Pearson TS and Pons R, Continuum (Minneap Minn).30
1502 OCTOBER 2022

teaching children strategies to manage tremor as well as provision of individualized KEY POINTS
tremor tools such as specialized pen or pencil grips or weighted utensils.
● The clinician should
For patients with essential tremor, propranolol and primidone are first-line obtain a thorough family
medications. DBS should also be considered for adolescents with intractable history and examination of
essential tremor that interferes with learning or self-esteem. accompanying family
In the event of acute onset of new tremor, ingestion and withdrawal must members at the time of
neurologic examination for
be considered.
tremor.
Metabolic causes of tremor such as thyroid or other endocrine dysfunction
should be ruled out. Vitamin and mineral deficiencies should also be considered ● Toxic ingestion is at the
as potential etiologies for tremor. top of the differential
Tremor due to an underlying structural abnormality or associated neurologic diagnosis for acute ataxia.
syndrome is rarer, but it is important to recognize key findings on history

and examination that will help the clinician discriminate between enhanced
benign and pathologic tremor. Any child who presents with a new-onset tremor
in the setting of other neurologic signs or symptoms warrants immediate
neuroimaging.
For all young patients with tremor, repeat examination in 6 to 12 months, even
for those patients with benign etiologies, can ensure appropriate monitoring and
treatment and provide any additional support to optimize function.
Ataxia
Ataxia is defined as “inability to generate a normal or expected voluntary
movement trajectory that cannot be attributed to weakness or involuntary
muscle activity about the affected joints.”29 Children with ataxia may present as
clumsy or with extra movements and may have abnormal eye movements
(nystagmus, oculomotor apraxia), slow or slurred speech, tremor, head or trunk
bobbing or instability (titubation), and a wide-based lurching or staggering gait.
Subtle ataxia can be easily missed or mistaken for dyskinesia or even
hyperactivity. Understanding onset (acute, subacute, or chronic) and presence
or absence of progression is key, as it is helpful to think of childhood ataxias
grouped by onset and then by mode of genetic inheritance or other
accompanying features. TABLE 11-629,30 provides guidelines for the initial
diagnostic approach to the child with ataxia.
ACUTE ONSET. A common cause of acute ataxia in children is toxic ingestion. Toxic
ingestion is always at the top of the differential diagnosis for acute ataxia and may
be accidental in toddlers or related to substance abuse in adolescents. Common
substances ingested include alcohol, antiseizure medications, antihistamines, and
benzodiazepines. In the absence of clear toxin exposure, traumatic or vascular
causes such as stroke or vertebrobasilar dissection should also be considered.
Infectious and postinfectious causes must also be considered.
Recurrent acute ataxia may be metabolic in origin (look for a history
suggestive of neurometabolic disease); due to migraine (basilar migraine, which
may present without head pain), benign paroxysmal vertigo, or episodic ataxia
type 1 or 2; or functional in nature.
SUBACUTE ONSET. The differential diagnosis for subacute presentation of ataxia

includes acute cerebellar ataxia (usually postinfectious), opsoclonus-myoclonus
syndrome, acute disseminated encephalomyelitis (ADEM), Guillain-Barré
syndrome including Miller Fisher variant, and posterior fossa tumor.

CHRONIC ONSET. Chronic-onset ataxias may be progressive or nonprogressive, as

outlined in the following sections.
PROGRESSIVE. Chronic progressive ataxia can be associated with several genetic

mutations and is typically subdivided into three groups: autosomal dominant,
autosomal recessive, and spastic-ataxia, with the autosomal recessive ataxias
being the most common subgroup to present in children. Examples of
autosomal recessive chronic progressive ataxias in children include Friedreich
ataxia, ataxia-telangiectasia, ataxia with oculomotor apraxia types 1 and 2, and
ataxia with vitamin E deficiency. Friedreich ataxia and ataxia-telangiectasia are
the most common autosomal recessive ataxias presenting in children.
Examples of less common autosomal dominant ataxias include many of the
spinocerebellar ataxias and dentatorubral-pallidoluysian atrophy (DRPLA).
Ataxia-telangiectasia. Ataxia-telangiectasia is an autosomal recessive progressive

movement disorder with typical onset of neurologic symptoms between 1 and
4 years of age, characterized by ataxia, chorea, dystonia, athetosis, oculomotor
signs, and later development of telangiectasias. It may or may not be
accompanied by recurrent sinopulmonary infections. Ataxia may initially be
static or slow to progress, potentially delaying accurate diagnosis.
Ataxia-telangiectasia is accompanied by immunodeficiency, which, if present,
may warrant treatment with intravenous immunoglobulin (IVIg).
Ataxia-telangiectasia is detected by elevated serum α-fetoprotein, which is
typically sufficient to confirm the diagnosis. Additional testing may include ATM
gene sequencing and DNA radiosensitivity testing. Treatment of the movement
disorder is symptomatic, with no specific treatment for ataxia.
Friedreich ataxia. Friedreich ataxia is the most common autosomal recessive

ataxia in White populations and is due to GAA triplet repeat expansion in the
TABLE 11-7 Red Flag Findings That May Indicate a Genetic Etiology or Cerebral Palsy
Mimic in the Child With a Diagnosis of “Cerebral Palsy”a
◆ Normal brain MRI

◆ Severe symptoms without history of acquired injury
◆ Family history of the disorder or consanguinity
◆ Neurodevelopmental regression or progressively worsening phenotype
◆ Rigidity
◆ Isolated dystonia, chorea, ataxia, or hypotonia
◆ Spasticity involving lower extremities only
◆ Oculogyric crisis
◆ Paroxysmal motor symptoms
◆ Hyporeflexia/areflexia
MRI = magnetic resonance imaging.

a
Data from Lee RW, et al, Neuromolecular Med,31 and Pearson TS, et al, Mov Disord.32
1504 OCTOBER 2022

FRDA gene. Average age at onset is 15 years, with patients typically presenting KEY POINTS
with neurologic symptoms after the age of 2 years. Friedreich ataxia is
● Clinical distinction
characterized by progressive gait ataxia, dysarthria, limb weakness, axonal between spasticity,
neuropathy with impairment of proprioception and vibration, areflexia, and dystonia, and rigidity is
extensor plantar response. Patients with Friedreich ataxia are at high risk for essential for accurate
diabetes and dilated cardiomyopathy, the latter of which is a common diagnosis and appropriate
treatment of the hypertonic
contributor to early mortality.
child.
Ataxia with oculomotor apraxia types 1 and 2. Ataxia with oculomotor apraxia type ● Although spastic cerebral
1 (AOA1) and type 2 (AOA2) are progressive autosomal recessive ataxias palsy is the most common
presenting in childhood. Onset of symptoms in children with AOA1 is anywhere type, many children with
cerebral palsy present with
between age 2 and 18 years and includes ataxia, choreoathetosis, oculomotor a mixed movement disorder.
apraxia, sensory neuropathy, hyporeflexia, and cognitive impairment. AOA1 is
associated with a mutation in the PTX gene, with low serum albumin and high
cholesterol on laboratory evaluation and cerebellar atrophy on MRI. AOA2
typically presents in the teen years with onset between age 13 and 18 years and
features progressive ataxia and areflexia, but oculomotor apraxia is less
prevalent. AOA2 is associated with mutation in SETX, with elevated serum
α-fetoprotein and diffuse cerebellar atrophy on MRI. No disease-modifying
medical treatment is available for either AOA1 or AOA2.
Ataxia with vitamin E deficiency. Ataxia with vitamin E deficiency has onset in
early childhood and is characterized by progressive ataxia, retinitis pigmentosa,
and dystonia. Diagnostic testing reveals low vitamin E levels. Treatment includes
lifelong high daily doses of vitamin E.
NONPROGRESSIVE. In patients with chronic nonprogressive ataxia, neuroimaging

can aid in ruling out an associated congenital cerebellar malformation.
Spasticity
Spasticity is a common finding in children with disordered movement and can be
secondary to a structural cause or related to a primary genetic cause. The most
common cause of spasticity in children is cerebral palsy. It is critical to consider
other causes of spasticity in children who present with any of the “red flags”
discussed below (TABLE 11-731,32).
Spasticity is defined as increased tone with increased resistance to passive
stretch at a joint and is typically velocity dependent. Children with long-standing
spasticity may also have contractures limiting range of motion at a joint, which
can make testing for velocity dependence challenging. Dystonia and rigidity are
easily mistaken for spasticity. Clinical distinction between spasticity, dystonia,
and rigidity is essential for accurate diagnosis and appropriate treatment of the
hypertonic child (TABLE 11-8).
CEREBRAL PALSY. The most common cause of spasticity in children is cerebral

palsy, resulting from a wide variety of prenatal, perinatal, and postnatal insults
(eg, prematurity, hypoxic-ischemic encephalopathy, stroke, infections,
developmental brain malformation, vascular malformation, congenital heart
disease, trauma, kernicterus, or intracranial hemorrhage).33 Cerebral palsy is
typically classified into four types by primary motor disability: spastic,
dyskinetic, ataxic, or mixed type. Although spastic cerebral palsy is the most

common type,34 many children with cerebral palsy present with a mixed
movement disorder, with dystonia present in up to 75% of children classified as
having the predominant spastic type.35 Children with spasticity may also have
signs of chorea, ataxia, and other abnormal movements. Key principles regarding
the diagnosis of cerebral palsy are as follows: (1) Cerebral palsy is a clinical
description and not an etiology. (2) Cerebral palsy is a permanent disability. (3)
Cerebral palsy is a nonprogressive brain process, but the physical manifestations
of the disorder are not necessarily static.
PRIMARY/GENETIC SPASTICITY. A multitude of neurogenetic disorders masquerade

as various types of cerebral palsy, including leukodystrophies, neurotransmitter
disorders, neurometabolic disorders, and mitochondrial and genetic disorders.
As a rule, cerebral palsy is nonprogressive, and any child with progressive or
degenerative central nervous system symptoms requires further diagnostic
evaluation. Children with cerebral palsy should also have expected motor
symptoms and clear risk factors for the disorder, with neuroimaging supporting
the diagnosis. In any child with clinical signs and symptoms suggestive of
cerebral palsy but with absence of prenatal or perinatal risk factors or a normal
MRI, other possible diagnoses must be considered (TABLE 11-936). Metabolic or
genetic testing or both should be considered if neuroimaging reveals a
TABLE 11-8 Clinical Features of Spasticity, Dystonia, and Rigidity
Other
accompanying
Movement Muscle State examination
disorder Characteristics involvement Posture/positioning dependence findings
Spasticity Amplitude and Asymmetric Minimal fluctuation with Tone is similar Hyperreflexia
(pyramidal tract velocity involvement of change in position regardless of
Clonus
involvement) dependent; antagonist awake versus
examiner can muscles and asleep state
elicit “catch” on mainly affects
stretch antigravity
muscles
Dystonia Not dependent Opposing muscles Sustained and repetitive Improves or Normal reflexes
(extrapyramidal, on velocity (flexors and muscle contractions resolves in
Often
basal ganglia extensors) resulting in abnormal sleep
accompanied by
involvement) simultaneously posturing; may be
underlying
involved triggered by specific
hypotonia
positions, emotions,
pain, or stress
Rigidity Not dependent Opposing muscles Sustained increase of Can improve Common in
(extrapyramidal, on velocity (flexors and tone affecting both with sleep Parkinson
basal ganglia extensors) extensors and flexors disease and
involvement) simultaneously equally brain injury
involved
Typically very difficult to May have
stretch or test range of accompanying
motion of muscles; may tremor
feel like “lead pipe” or
“cogwheel”
1506 OCTOBER 2022

developmental malformation or imaging abnormality is isolated to the globus
pallidus or in the presence of any of the following: regression or new or
worsening symptoms, episodes of metabolic decompensation, no clear etiology, a
positive family history of “cerebral palsy,” a family history of consanguinity,
isolated hypotonia, evidence of rigidity, or paraplegia.31,37
SPASTICITY TREATMENT. Treatment of spasticity is multimodal, relying on

interdisciplinary care coordination between primary care, orthopedic surgery,
physical and occupational therapy, neurology, physical medicine and
rehabilitation, neurosurgery, and often other subspecialties such as
gastroenterology and pulmonology.
Oral medications such as baclofen, benzodiazepines, and trihexyphenidyl
can be used to treat spasticity that causes discomfort. Additional medications to
consider include tizanidine, dantrolene, and gabapentin. Although no
data support the efficacy of medical cannabis in cerebral palsy,38 many families
are using cannabidiol or cannabidiol with tetrahydrocannabinol supplements in
the hope of relieving spasticity; therefore, it is important to ask families about
use of any such supplements. Children with mild spasticity may not need any
medications for tone management during early childhood but may need
intervention as they grow and pursue more complex motor tasks.
Botulinum toxin injections for focal spasticity are approved by the US Food
and Drug Administration (FDA) for children 2 years old and older and may be
used in isolation or in conjunction with oral medications.39 Surgical interventions
for spasticity include intrathecal baclofen pump and selective dorsal
rhizotomy.40-42 Recognition of spasticity and distinction from dystonia and
rigidity is particularly important when considering possible etiologies as well as
appropriate therapeutic interventions for cerebral palsy. Some surgical
procedures targeting spasticity, such as selective dorsal rhizotomy, may actually
worsen a patient’s function if their dystonia is mistaken for spasticity. For
children with concurrent medication-refractory dystonia, DBS targeting the
globus pallidus internus can be considered.43 A care pathway for children with
cerebral palsy with dystonia has been published by the American Academy for
Cerebral Palsy and Developmental Medicine.44
Differential Diagnoses for Spastic Paraplegia in Childrena TABLE 11-9
◆ Diplegic cerebral palsy

◆ Structural (Chiari malformation, atlantoaxial subluxation)
◆ Hereditary spastic paraplegias
◆ Leukodystrophy
◆ Metabolic (eg, arginase deficiency, abetalipoproteinemia)
◆ Levodopa-responsive dystonia
◆ Infection (myelitis)
◆ Multiple sclerosis
a
Data from Salinas S, et al, Lancet Neurol.36

Parkinsonism
Parkinsonism in children is rare compared with other phenomenology but can be
a manifestation of many different disorders, including toxic exposure or genetic
or structural causes.45 As in adults, parkinsonism in children is characterized by
tremor, bradykinesia, akinesia, rigidity, and postural instability. Parkinsonism
typically reflects an underlying deficit in dopamine; thus, concurrent dystonia
may be present.46
Most commonly, acquired parkinsonism in children is secondary to use of
dopamine-blocking medications or other medications. The most common
autosomal recessive juvenile Parkinson disease is PARK2 disease, due to a
mutation in the parkin gene.47 Other childhood-onset degenerative disorders
associated with parkinsonism include Huntington disease, Rett syndrome,
neuronal intranuclear inclusion disease, pallido-pyramidal syndrome,
Kufor-Rakeb syndrome, PLA2G6-associated neurodegeneration with brain
iron accumulation, Fahr syndrome, pantothenate kinase–associated
neurodegeneration, Niemann-Pick disease type C, and juvenile neuronal ceroid
lipofuscinosis.48 Injury to the basal ganglia from stroke, tumor, hydrocephalus,
encephalitis, or postinfectious autoimmune or inflammatory processes may
manifest as parkinsonism or other movement disorders.
Parkinsonism in infants may be difficult to identify as such and should be
considered for any infant with hypotonia and reduced movement of
undetermined etiology. Parkinsonism can contribute to poor feeding and failure
to thrive. Monoamine neurotransmitter disorders are a heterogeneous group of
mostly autosomal recessively inherited neurologic disorders that typically
present as infantile-onset dystonia-parkinsonism.
Neurotransmitter disorders may result from (1) inability to synthesize
adequate or functional neurotransmitter molecules, (2) impaired
neurotransmitter transport, (3) mutations leading to difficulties with synthesis
of cofactors necessary for appropriate production of neurotransmitters, or (4)
inability to appropriately break down neurotransmitters. Examples of
primary neurotransmitter synthesis defects include deficiency in the enzyme
tyrosine hydroxylase or aromatic L-amino acid decarboxylase ultimately
resulting in insufficient production of dopamine, with profound consequences
for motor function and development. An example of defective monoamine
transport is dopamine transporter deficiency syndrome, in which dopamine
cannot be properly cleared from the synapse; this condition typically presents in
infancy as a hyperkinetic movement disorder with progression to severe
parkinsonism during early childhood. Tetrahydrobiopterin is a cofactor
necessary for monoamine synthesis; disorders such as sepiapterin reductase
deficiency or GTP cyclohydrolase 1 deficiency, an example of a dopamine-
responsive dystonia, impair production of this critical cofactor, resulting in
clinical movement disorders characterized by hypotonia, parkinsonism, and
dystonia. Neurotransmitter catabolism defects such as monoamine oxidase
deficiencies or dopamine β-hydroxylase deficiency may result in insufficient
breakdown of dopamine and impaired synthesis of norepinephrine and
epinephrine; as an example, monoamine oxidase deficiency typically
presents in boys with impaired attention, poor learning, and behavioral
problems and can be accompanied by autonomic symptoms such as flushing,
sweating, headaches, and diarrhea (reflective of deficiency of epinephrine
and norepinephrine).
1508 OCTOBER 2022

FUNCTIONAL MOVEMENT DISORDERS KEY POINTS
Functional movement disorders (previously referred to as conversion disorders,
● Key principles regarding
psychogenic movement disorders, or hysteria)49,50 are complex neurobehavioral the diagnosis of cerebral
disorders with poorly understood pathophysiology.51 These disorders may palsy are as follows: (1)
present in children of any age, although incidence is higher in the teen years.52,53 Cerebral palsy is a clinical
Children may present with features similar in appearance to any of the description and not an
etiology. (2) Cerebral palsy
phenomenologies previously discussed, but the disorders most commonly
is a permanent disability. (3)
involve tremor, dystonia, tics, or gait abnormalities.53,54 Although incidence is Cerebral palsy is a
similar between boys and girls at younger ages, there is a female preponderance nonprogressive brain
in adolescents.53,55 Historically, functional disorders were considered a “diagnosis process, but the physical
manifestations of the
of exclusion,” but a modern approach incorporates a balance between exercising
disorder are not necessarily
due diligence to rule out nonfunctional causes and recognizing key features that static.
support early diagnosis of a functional etiology. Early and accurate diagnosis
avoids excessive medical testing and treatment and delayed diagnosis and ● Botulinum toxin injections
enables implementation of appropriate interventions. The importance of for focal spasticity are
approved by the US Food
appropriate management of these diagnoses is further supported by data and Drug Administration for
demonstrating that positive prognostic indicators for a patient with a functional children 2 years old and
disorder include acceptance of the diagnosis by the patient and their caregivers older and may be used in
and identification and management of concurrent psychological stressors or isolation or in conjunction
with oral medications.
psychiatric disorders.51
Clues to a functional etiology include sudden onset with rapid progression of ● Recognition of spasticity
often severely abnormal movements that dramatically affect quality of life in a and distinction from
previously healthy child.55 Risk factors include unrecognized anxiety, unresolved dystonia and rigidity is
particularly important when
physical or psychological trauma, and other concurrent neurologic or psychiatric
considering possible
disorders. The neurologist plays an important role as the diagnostician and etiologies as well as
coordinator of a multidisciplinary intervention integrating psychology, appropriate therapeutic
psychiatry, and physical and occupational therapies as well as any additional interventions for cerebral
support services tailored to an individual’s recovery. palsy.
Periodically there have been events of mass sociogenic illness presenting as ● Some surgical procedures
functional movement disorders in children, such as psychogenic gait disorders targeting spasticity, such as
after H1N1 flu vaccination56 or sudden onset of ticlike movements in a group of selective dorsal rhizotomy,
students attending the same high school.57 Similarly, the incidence of functional may actually worsen a
patient’s function if their
tic disorders has noticeably increased in the setting of the current COVID-19 dystonia is mistaken for
pandemic, with many cases associated with social media use.58-60 The patients spasticity.
tend to be girls and young women in their teens and twenties with no prior history
of tic disorder who present with sudden, explosive onset of severely disabling ● Parkinsonism in infants
may be difficult to identify
ticlike behaviors, often including coprolalia and self-injurious behaviors (features
as such and should be
that are rare in children with tic disorders or Tourette syndrome).59 Patients may considered for any infant
share videos of their symptoms on social media sites, leading to increased with hypotonia and reduced
attention and feedback contributing to the persistence of their symptoms. movement of undetermined
etiology.
RARE BUT TREATABLE NEUROMETABOLIC MOVEMENT DISORDERS ● Early and accurate

NOT TO MISS diagnosis of functional
Although many pathologic pediatric movement disorders are not curable, movement disorders avoids
several treatable childhood neurometabolic disorders exist, which should not excessive medical testing
and treatment and delayed
be missed. Efficient and accurate diagnosis of these disorders is essential to diagnosis and enables
timely initiation of appropriate treatment. A detailed review of all neurometabolic implementation of
diseases manifesting as movement disorders is outside the scope of this article, appropriate interventions.
but key examples that are treatable and appear during childhood are summarized
in TABLE 11-10.

TABLE 11-10 Treatable Neurometabolic Disorders With Prominent Movement Disorder

Presenting in Infancy or Childhood
Movement examination
Diagnosis Presentation findings Diagnosis Treatment
Dopamine- Often presents with Typically starts with Rapid and remarkable Low-dose levodopa/
responsive dystonia gait abnormality due bilateral lower extremity response to low doses carbidopa
(also DYT5 or Segawa to lower extremity dystonia with of levodopa
disease) dystonia; may be progression to
Brain MRI: typically
mistaken for cerebral generalized dystonia
unrevealing
palsy or spastic
Diurnal fluctuation:
diplegia CSF: low neopterin,
symptoms worsen in
tetrabiopterin, and
afternoon and improve
homovanillic acid (HVA)
in morning and after
sleep Autosomal dominant
mutation in GTP
cyclohydrolase (GCH1)
6-Pyruvoyl- Progressive Hypotonia with Hyperphenylalanine on Replace

tetrahydropterin neurologic appendicular blood spot tetrahydrobiopterin
synthase deficiency deterioration hypertonia, hypokinesia,
Reduced biopterin and Provide
rigidity, chorea,
May deteriorate after elevated neopterin in neurotransmitter
dystonia, oculogyric
administration of urine precursors (levodopa
crises; diurnal
folate antagonists and serotonin)
fluctuation
Monoamine oxidase
inhibitors (MAOIs)
Sepiapterin Cerebral palsy–like Hypotonia, dystonia, CSF: low HVA and Provide
reductase deficiency picture with diurnal oculogyric crisis, 5-hydroxyindoleacetic neurotransmitter
fluctuation: parkinsonism acid (5-HIAA) with precursors (levodopa
oculogyric crisis elevated total biopterin, and serotonin)
(episodic dystonic dihydrobiopterin, and
Often dramatic
upgaze), paroxysmal sepiapterin
response to levodopa
stiffening and
hypotonia in infancy
Dihydropteridine Defect of Bulbar dysfunction, CSF: low HVA, 5-HIAA, Provide

reductase deficiency tetrahydrobiopterin dyskinesia, tremor, folate, elevated neurotransmitter
regeneration dystonia, chorea dihydrobioptin, raised or precursors (levodopa
normal biopterin levels and serotonin)
Feeding difficulty in
infancy with Folinic acid
hypersalivation,
microcephaly, delay,
but may be
asymptomatic
Tyrosine hydroxylase Type A: progressive Hypotonia, CSF: low HVA, normal Levodopa
deficiency extrapyramidal parkinsonism, dystonia, 5-HIAA, reduced ratio
movement disorder rigidity, diurnal HVA: 5-HIAA
with hypokinetic rigid variability
syndrome and
dystonia
Type B: complex
neonatal/infantile
encephalopathy
1510 OCTOBER 2022

Aromatic L-amino Hypotonia with Hypotonia, oculogyric CSF: low HVA, 5-HIAA, Gene therapy trials
acid decarboxylase oculogyric crises and crises, hypokinesia, 3-methoxy-4- ongoing
deficiency developmental failure chorea, dystonia hydroxyphenlyglycol
with raised
5-hydroxytryptophan,
L-dopa, and 3-O-
methyldopa
Low to absent plasma
aromatic L-amino acid
decarboxylase activity
Elevated urine
catecholamines
Brain dopamine- Developmental delay, Hypotonia, oculogyric Brain MRI: normal Pramipexole (chorea
serotonin vesicular hypotonia, sleep crises, parkinsonism, and dystonia worsen
CSF neurotransmitters
transport disease disturbance, tremor, focal on levodopa)
normal
autonomic dyskinesias
dysfunction Low urine dopamine and
norepinephrine
Elevated HVA and 5-HIAA
Dopamine Infant with hypotonia, Hypotonia, dyskinesia, Elevated CSF HVA Limited response to
transporter irritability, feeding progressive dystonia dopamine agonists
deficiency syndrome difficulty and dyskinesia with eye
involvement
GLUT1 deficiency Classically infantile Hypotonia, spasticity, Low CSF glucose Ketogenic diet
seizures, ataxia, dystonia
Low CSF-to–blood
encephalopathy,
glucose ratio
acquired
microcephaly
Cerebral folate Variable Identify cerebral folate High-dose folinic acid

deficiency presentation: receptor alpha (FRα)
antibodies
(1) Infantile onset: (1) Hypotonia, ataxia,
4-6 mo irritability/ pyramidal signs, Brain MRI: may be
insomnia, deceleration dyskinesias normal or may show
of head growth, frontotemporal atrophy,
developmental delay/ delayed myelination,
regression, epilepsy periventricular and
subcortical
(2) Spastic-ataxic (2) Spasticity, ataxia
demyelination
syndrome beginning
after age 1 y
(3) Autism (3) With or without
deficits seen in
infantile-onset group
(4) Dystonia/ (4) Dystonia
pyramidal syndrome

CONTINUED
CONTINUED FROM FROM PAGE 1511
PAGE 1511
Pyruvate Neurodevelopmental Brain MRI: bilaterally Treat acidosis

dehydrogenase delay, hypotonia, symmetric lesions in
Ketogenic diet
complex deficiency dystonia, episodic basal ganglia, thalamus,
peripheral weakness, brainstem Thiamine
ataxia, spasticity,
Elevated plasma and Dichloroacetate
cerebellar
urine lactate and (inhibitor of pyruvate
degeneration, seizures,
pyruvate dehydrogenase
intellectual disability
kinases and activator
of pyruvate
dehydrogenase)
Biotin-responsive Variable onset, Ataxia, dystonia, Brain MRI: abnormal Thiamine and biotin
basal ganglia disease typically between 3 dysarthria, pyramidal signal intensity in treatment
and 4 y signs caudate and putamen
Fever-triggered Diffuse involvement of
subacute cortical and subcortical
encephalopathy with white matter
seizures and ataxia
Ataxia with vitamin E Progressive sensory Generalized ataxia, Low plasma vitamin E Lifelong oral vitamin E
deficiency (AVED) ataxia hyporeflexia, weakness, supplementation
strabismus, dementia,
cardiac arrhythmias
May have dystonia,
myoclonus
Hypermanganesemia Generalized dystonia Dystonia Increased serum Early treatment with

in childhood/ manganese, repeat IV chelator
adolescence, polycythemia, low (edetate calcium
parkinsonism in ferritin disodium) infusion to
adulthood increase urinary
Hepatic cirrhosis
excretion of
Brain MRI: manganese
hyperintensities in basal
ganglia
Wilson disease Aged 8-12 y with Generalized rigidity, Low serum Copper chelation
isolated hepatic faciolinguopharyngeal ceruloplasmin and with D-penicillamine,
disorder rigidity, gross postural serum copper trientine, zinc
or intention tremor,
Neurologic symptoms Excess urinary copper
behavioral/cognitive
typically absent
changes ATP7B mutation
before age 7-10 y
Kayser-Fleischer rings
CSF = cerebrospinal fluid; IV = intravenous; MRI = magnetic resonance imaging.
1512 OCTOBER 2022

Clues to a possible underlying undiagnosed neurometabolic disorder KEY POINTS
contributing to the clinical presentation of a pediatric movement disorder
● Diurnal fluctuation of
include (1) diurnal fluctuation of disordered movement such as dystonia (such as symptoms may point to an
dopamine-responsive dystonia [also known as DYT5 and Segawa syndrome], or underlying neurometabolic
unrecognized sepiapterin reductase deficiency in a child presumed to have disorder.
cerebral palsy); (2) progression of symptom severity or accumulation of new
● Potentially
symptoms over time (such as is seen with cerebral folate deficiency); (3) clinical
life-threatening drug-
signs or symptoms suggestive of a specific neurotransmitter deficiency (such as induced movement
oculogyric crises with hypotonia and dystonia as seen in aromatic L-amino acid disorders include acute
decarboxylase deficiency); and (4) absence of history or other risk factors to dystonic reaction,
support a diagnosis such as cerebral palsy or autism. The neurologist should neuroleptic malignant
syndrome, and serotonin
pursue additional diagnostic evaluation for any child in whom a neurometabolic syndrome.
disorder is suspected.
● It is prudent to consider
PEDIATRIC MOVEMENT DISORDER EMERGENCIES referral for pediatric deep
brain stimulation for any
There are several pediatric movement disorder emergencies that a neurologist child with medication-
should be able to recognize and treat. A full review of movement disorder refractory dystonia, chorea,
emergencies was published by Kipps and colleagues.61 or tremor.
Drug-Induced Movement Disorders

The increased use of psychotropic and stimulant medications in children has
contributed to an increased incidence of drug-induced movement disorders in
this population.62 Additionally, young children are at high risk of accidental
ingestion of medications and other substances that may trigger abnormal
movements manifesting as chorea, dystonia (status dystonicus), parkinsonism
(hypokinetic/rigid syndrome), tremor, ataxia, myoclonus, akathisia,
stereotypies, tics, or dyskinesias. Such drug-induced movement disorders may
be acute or more insidious and can be caused by a wide array of substances. Key
clues to a drug-induced movement disorder are rapid onset of new severe
symptoms, temporal association with medication administration or recent
introduction of new medication, and known use or presence in the household of
a dopamine-blocking agent or stimulant medication (including many asthma
medications). Potentially life-threatening drug-induced movement disorders
include acute dystonic reaction, neuroleptic malignant syndrome, and serotonin
syndrome. A common presentation of drug-induced movement disorders is
ataxia in a young child due to accidental ingestion. Rapid recognition of the
adverse reaction with identification and immediate cessation of the offending
agent is essential. In the case of any acute drug-induced movement disorder,
careful monitoring of vital signs and respiratory drive is indicated. Acute
dystonic reactions are treated with anticholinergic medications
(diphenhydramine or benztropine) with or without benzodiazepines.63
Baclofen Withdrawal
Baclofen withdrawal is a potentially life-threatening movement disorder
emergency. Patients can present with a broad continuum of symptoms with
worsened spasticity, irritability or agitation, rigidity, dystonia (status
dystonicus), seizures, hypertension or hypotension with shock, tachycardia,
hyperthermia, altered mental status, hallucinations, and psychosis. In severe
cases, symptoms can proceed to rhabdomyolysis with subsequent cardiac and
renal injury, disseminated intravascular coagulation, multisystem organ

injury and failure, and death. Withdrawal can occur with sudden cessation of
oral or intrathecal baclofen or after recent decrease in dosing, unrecognized
empty baclofen pump, baclofen pump failure, or unintentionally turning a
baclofen pump off. Treatment includes immediate administration of baclofen
and/or oral or IV benzodiazepines in addition to supportive care (TABLE 11-11).
FUNCTIONAL NEUROSURGERY FOR PEDIATRIC MOVEMENT

DISORDERS
DBS is an increasingly available treatment for pediatric movement disorders
including chorea, dystonia, and tremor, and is an emerging treatment for
TABLE 11-11 Key Features of Pediatric Movement Disorder Emergenciesa
Presentation Examination findings Treatment
Acute Hyperacute onset of new Often involves dystonic contractions Mechanism: thought due to
dystonic dystonia typically shortly after of the face/neck but can be imbalance of dopamine and
reaction administration of offending segmental or generalized acetylcholine (ie, acetylcholine
agent overload)
Patient is often very anxious and
Typically in response to distressed Treatment: cessation of
offending dopamine receptor triggering agent
blocking agent (most commonly
First line: anticholinergics (ie,
antipsychotics and antiemetics,
diphenhydramine, benztropine)
but can be provoked by a long
Second line: benzodiazepine
list of various medications, eg,
antimalarial, antidepressants, Treat acute anxiety
antihistamines, anticonvulsants)
Status Persistent generalized dystonia Hypertension, tachycardia, Eliminate triggers including

dystonicus that is not responding to tachypnea, hyperthermia possible infection, pain (eg, from
medications, requiring constipation, irritation from
Generalized dystonia; often very rigid,
emergency treatment or feeding tube, skin breakdown,
irritable
hospitalization eye irritation, positioning, poorly
fitting orthotics or wheelchair)
Sometimes triggered by
concurrent illness, medication May require high-dose
changes benzodiazepines
May present with concurrent Provide pain control
respiratory distress
Aggressive hydration
Monitor closely for
rhabdomyolysis
Consider emergent pallidal
deep brain stimulation (DBS),
baclofen pump, pallidotomy for
medication-refractory cases
1514 OCTOBER 2022

medication-refractory severe tics. Just as referral for epilepsy surgery is
considered best practice for a child with medication-refractory epilepsy after a
trial of two antiseizure medications, it is prudent to consider referral for pediatric
DBS for a child with medication-refractory dystonia, chorea, or tremor.
Historically, DBS was reserved for children with primary dystonia; however,
therapeutic applications have broadened, and DBS can be effective for
secondary dystonia. Several anatomic targets for DBS for dystonia have been
described in the literature, the most common being the globus pallidus internus.
Targeted pallidotomy may also be considered in a child with severe dystonia who
cannot tolerate DBS.
Presentation Examination findings Treatment
Neuroleptic Acute to subacute onset of Hypertension, tachycardia, Eliminate cause

malignant diffuse rigidity with vital sign tachypnea, hyperthermia,
Dopaminergic agents
syndrome changes and examination hypersalivation, diaphoresis, pallor
findings as noted Dantrolene
Altered mental status (range from
Precipitated by dopamine alert with agitation to coma)
antagonists
Classic diffuse generalized
“lead-pipe” rigidity
Hyporeflexia
Serotonin Acute onset of agitation with Hypertension, tachycardia, Eliminate trigger

syndrome clonus and hyperreflexia as well tachypnea, hyperthermia, diaphoresis
Administration of serotonin
as examination findings as noted
Altered mental status (range from antagonists
Precipitated by serotonergic alert with or without agitation to coma)
agents
Dilated pupils
Hyperactive bowel sounds
Generalized hypertonia
Hyperreflexia, clonus
Baclofen Worsening hypertonia over hours Worsened spasticity with or without Emergent administration of
withdrawal to days in setting of sudden rigidity with or without dystonia baclofen
decrease in baclofen dosing or (status dystonicus)
Benzodiazepines, propofol,
abrupt cessation of baclofen use
Hypertension or hypotension with tizanidine, and other muscle
shock relaxants can also be
Tachycardia considered
Hyperthermia
Altered mental status: irritability/
agitation, seizures, hallucinations,
psychosis
Severe cases:
Rhabdomyolysis, disseminated
intravascular coagulation, multisystem
organ failure, death
a
For any of the emergency situations in this table, the first priority in treatment is ensuring a secure airway and managing vital signs.

CONCLUSION
This article focused on identifying key phenomenology of benign and pathologic
movement disorders in children. Following are key principles to remember in
assessing children for abnormal movement:
1 Children can present with a broad spectrum of abnormal movements, most of which are
benign. Recognizing benign movements in children is just as important as recognizing
pathologic movement.
2 Although children are not just “little adults,” they share many features in common with
adults when it comes to movement disorder phenomenology.
3 Children are more likely than adults to present with a mixed movement disorder.
Recognizing similarities and key differences in movement disorder phenomenology
between children and adults and understanding how those phenomenologies present at
various stages of development can help the clinician better categorize and treat abnormal
movements in children.
4 If a child has a neurologic condition, they are highly likely to also have some abnormal
movement on examination. Knowing when to treat versus when to reassure is an important
balance to strike.
5 Appropriate diagnosis and treatment of movement disorders in children can have a major
impact on development, learning, and quality of life, even for children with incurable
neurologic disorders.
VIDEO LEGENDS
VIDEO 11-1 VIDEO 11-2
Sydenham chorea. Video shows the 5-year-old boy Dystonia. Video demonstrates the clinical course of
from CASE 11-1 with a complicated medical history the 11-year-old boy from CASE 11-2 with progressive
who presented with acute generalized chorea generalized dystonia before and after pallidal deep
consistent with Sydenham chorea. Examination brain stimulation.
findings are shown on the video at the time of initial
presentation and after steroid treatment.
REFERENCES
1 Singer HS. Educating child neurologists about 5 Bonnet C, Roubertie A, Doummar D, et al.
movement disorders. Semin Pediatr Neurol 2011; Developmental and benign movement disorders
18(2):98-103. doi:10.1016/j.spen.2011.05.003 in childhood. Mov Disord 2010;25(10):1317-1334.
doi:10.1002/mds.22944
2 O’Malley JA, Gilbert DL. Clinical approach to a
child with movement disorders. Semin in Pediatr 6 Kurian MA, Dale R. Movement disorders
Neurol 2018;25:10-18. doi:10.1016/j. presenting in childhood. Continuum
spen.2017.12.001 (Minneap Minn) 2016;22(4, Movement
Disorders):1159-1185. doi:10.1212/
3 Mink JW. The basal ganglia and involuntary
CON.0000000000000367
movements: impaired inhibition of competing
motor patterns. Arch Neurol 2003;60(10): 7 Katherine M. Stereotypic movement disorders.
1365-1368. doi:10.1001/archneur.60.10.1365 Semin Pediatr Neurol 2018;25:19-24. doi:10.1016/j.
spen.2017.12.004
4 Mink JW. Faulty brakes? Inhibitory processes in
attention-deficit/hyperactivity disorder. 8 Robinson S, Woods M, Cardona F, Baglioni V,
Neurology 2011;76(7):592-593. doi:10.1212/WNL. Hedderly T. Intense imagery movements:
0b013e31820c30f3 a common and distinct paediatric subgroup
of motor stereotypies. Dev Med Child
Neurol 2014;56(12):1212-1218. doi:10.1111/
dmcn.12518
1516 OCTOBER 2022

9 Gilbert D. Treatment of children and adolescents 22 Roessner V, Plessen KJ, Rothenberger A, et al.
with tics and Tourette syndrome. J Child Neurol European clinical guidelines for Tourette
2006;21(8):690-700. doi:10.1177/ syndrome and other tic disorders. Part II:
08830738060210080401 pharmacological treatment. Eur Child Adolesc
Psychiatry 2011;20(4):173-196. doi:10.1007/s00787-
10 Gilbert DL, Jankovic J. Pharmacological treatment
011-0163-7
of Tourette syndrome. J Obsessive Compuls
Relat Disord 2014;3(4):407-414. doi:10.1016/j. 23 Fraint A, Pal G. Deep brain stimulation in
jocrd.2014.04.006 Tourette’s syndrome. Front Neurol 2015;6.
doi:10.3389/fneur.2015.00170
11 Wu SW, Harris E, Gilbert DL. Tic suppression: the
medical model. J Child Adolesc 24 Martino D, Deeb W, Jimenez-Shahed J, et al. The
Psychopharmacol 2010;20(4):263-276. 5 pillars in Tourette syndrome deep brain
doi:10.1089/cap.2010.0015 stimulation patient selection: present and future.
Neurology 2021;96(14):664-676. doi:10.1212/
12 Rizzo R, Gulisano M, Pellico A, Calì PV, Curatolo P.
WNL.0000000000011704
Tourette syndrome and comorbid conditions: a
spectrum of different severities and 25 Furr Stimming E, Bega D. Chorea.
complexities. J Child Neurol 2014;29(10): Continuum (Minneap Minn) 2022;
1383-1389. doi:10.1177/0883073814534317 28(5, Movement Disorders):1379-1408.
13 Burd L, Li Q, Kerbeshian J, Klug MG, Freeman RD. 26 Singer H, Mink J, Gilbert D, Jankovic J. Dystonia.
Tourette syndrome and comorbid pervasive In: Movement Disorders in Childhood. 2nd ed.
developmental disorders. J Child Neurol 2009; Saunders; 2016:177-203.
24(2):170-175. doi:10.1177/0883073808322666
27 Stephen C. The dystonias. Continuum (Minneap
14 Eapen V, Snedden C, Črnčec R, Pick A, Sachdev Minn) 2022;28(5, Movement Disorders):
P. Tourette syndrome, co-morbidities and quality 1435-1475.
of life. Aust N Z J Psychiatry 2016;50(1):82-93.
28 Deuschl G, Bain P, Brin M. Consensus
doi:10.1177/0004867415594429
statement of the Movement Disorder Society
15 Fernandova K, Stern JS, Moore MD, Simmons H. on Tremor. Ad Hoc Scientific Committee. Mov
13 Underprovision of behavioural therapies for Disord 1998;13(Suppl 3):2-23. doi:10.1002/
tourette syndrome. J Neurol Neurosurg mds.870131303
Psychiatry 2016;88:A32. doi:10.1136/jnnp-2017-
29 Singer HS, Mink J, Gilbert DL, Jankovic J. Ataxia.
BNPA.73
In: Movement Disorders in Childhood. 2nd ed.
16 Rozenman M, Johnson OE, Chang SW, et al. Saunders; 2016:263-300.
Relationships between premonitory urge and
30 Pearson TS, Pons R. Movement disorders in
anxiety in youth with chronic tic disorders.
children. Continuum (Minneap Minn) 2019;
Child Heal Care 2014;44(3):235-248. doi:10.1080/
25(4, Movement Disorders):1099-1120.
02739615.2014.986328
doi:10.1212/CON.0000000000000756
17 Conelea CA, Wellen BCM. Tic Treatment goes
31 Lee RW, Poretti A, Cohen JS, et al. A
tech: a review of TicHelper.com. Cogn Behav
diagnostic approach for cerebral palsy in
Pract 2017;24(3):374-381. doi:10.1016/j.
the genomic era. Neuromolecular Med
cbpra.2017.01.003
2014;16(4):821-844. doi:10.1007/s12017-
18 Singer HS. Treatment of tics and tourette 014-8331-9
syndrome. Curr Treat Options Neurol 2010;12(6):
32 Pearson TS, Pons R, Ghaoui R, Sue CM. Genetic
539-561. doi:10.1007/s11940-010-0095-4
mimics of cerebral palsy. Mov Disord 2019;34(5):
19 Pringsheim T, Doja A, Gorman D, et al. Canadian 625-636. doi:10.1002/mds.27655
guidelines for the evidence-based treatment of
33 Korzeniewski Slaughter J, Lenski M, Haak P,
tic disorders: pharmacotherapy. Can J Psychiatry
Paneth N. The complex aetiology of cerebral
2012;57(3):133-143. doi:10.1177/
palsy. Nat Rev Neurol 2018;14(9):528-543.
070674371205700302
doi:10.1038/s41582-018-0043-6
20 Hollis C, Pennant M, Cuenca J, et al. Clinical
34 Prevalence and characteristics of children with
effectiveness and patient perspectives of
cerebral palsy in Europe. Dev Med Child Neurol
different treatment strategies for tics in children
2002;44(9):633-640.
and adolescents with Tourette syndrome: a
systematic review and qualitative analysis. 35 Rice J, Skuza P, Baker F, Russo R, Fehlings D.
Health Technol Assess 2016;20(4):1-450. Identification and measurement of dystonia in
doi:10.3310/hta20040 cerebral palsy. Dev Med Child Neurol 2017;59(12):
1249-1255. doi:10.1111/dmcn.13502
21 Quezada J, Coffman KA. Current Approaches and
new developments in the pharmacological 36 Salinas S, Proukakis C, Crosby A, Warner TT.
management of Tourette syndrome. CNS Drugs Hereditary spastic paraplegia: clinical features
2018;32(1):33-45. doi:10.1007/s40263-017-0486-0 and pathogenetic mechanisms. Lancet Neurol
2008;7(12):1127-1138. doi:10.1016/S1474-4422(08)
70258-8

37 Novak I, Morgan C, Adde L, et al. Early, accurate 47 Klein C, Schlossmacher MG. The genetics of
diagnosis and early intervention in cerebral palsy: Parkinson disease: implications for neurological
advances in diagnosis and treatment. JAMA care. Nat Rev Neurol 2006;2(3):136-146.
Pediatr 2017;171(9):897-907. doi:10.1001/ doi:10.1038/ncpneuro0126
jamapediatrics.2017.1689
48 Singer HS, Mink JW, Gilbert DL, Jankovic J.
38 Bohn E, Goren K, Switzer L, Falck-Ytter Y, Parkinsonism. In: Movement Disorders in
Fehlings D. Pharmacological and neurosurgical Childhood. 2nd ed. Saunders; 2016:301-316.
interventions for individuals with cerebral
49 Marjama J, Tröster AI, Koller WC. Psychogenic
palsy and dystonia: a systematic review
movement disorders. Neurol Clin 1995;13(2):
update and meta-analysis. Dev Med Child
283-297. doi:10.1016/S0733-8619(18)30046-X
Neurol 2021;63(9):1038-1050. doi:10.1111/
dmcn.14874 50 Jankovic J. “Psychogenic” versus “functional”
movement disorders? That is the question.
39 Quality Standards Subcommittee of the
Mov Disord 2014;29(13):1697-1698. doi:10.1002/
American Academy of Neurology and the
mds.26040
Practice Committee of the Child Neurology
Society; Delgado MR, Hirtz D, et al. Practice 51 Espay AJ, Goldenhar LM, Voon V, et al.
parameter: pharmacologic treatment of Opinions and clinical practices related to
spasticity in children and adolescents with diagnosing and managing patients with
cerebral palsy (an evidence-based review): psychogenic movement disorders: an
report of the Quality Standards Subcommittee of international survey of movement disorder
the American Academy of Neurology and the society members. Mov Disord 2009;24(9):
Practice Committee of the Child Neurology 1366-1374. doi:10.1002/mds.22618
Society. Neurology 2010;74(4):336-343.
52 Carson A, Lehn A. Epidemiology. Handb Clin
doi:10.1212/WNL.0b013e3181cbcd2f
Neurol 2016;139:47-60. doi:10.1016/B978-0-12-
40 Tu A, Steinbok P. Long term outcome of selective 801772-2.00005-9
dorsal rhizotomy for the management of
53 Schwingenschuh P, Pont-Sunyer C, Surtees R,
childhood spasticity—functional improvement
Edwards MJ, Bhatia KP. Psychogenic
and complications. Childs Nerv Syst 2020;36(9):
movement disorders in children: a report
1985-1994. doi:10.1007/s00381-020-04747-8
of 15 cases and a review of the literature.
41 Ingale H, Ughratdar I, Muquit S, Moussa AA, Mov Disord 2008;23(13):1882-1888. doi:10.1002/
Vloeberghs MH. Selective dorsal rhizotomy as an mds.22280
alternative to intrathecal baclofen pump
54 Chouksey A, Pandey S. Functional movement
replacement in GMFCS grades 4 and 5 children.
disorders in children. Front Neurol 2020;11.
Childs Nerv Syst 2016;32(2):321-325. doi:10.1007/
doi:10.3389/fneur.2020.570151
s00381-015-2950-9
55 Ferrara J, Jankovic J. Psychogenic movement
42 D’Aquino D, Moussa AA, Ammar A, Ingale H,
disorders in children. Mov Disord 2008;23(13):
Vloeberghs M. Selective dorsal rhizotomy
1875-1881. doi:10.1002/mds.22220
for the treatment of severe spastic cerebral
palsy: efficacy and therapeutic durability in 56 Ryu JH, Baik JS. Psychogenic gait disorders
GMFCS grade IV and V children. Acta after mass school vaccination of influenza A.
Neurochir 2018;160(4):811-821. doi:10.1007/ J Mov Disord 2010;3(1):15-17. doi:10.14802/
s00701-017-3349-z jmd.10004
43 Elia AE, Bagella CF, Ferré F, et al. Deep brain 57 Mink JW. Conversion disorder and mass
stimulation for dystonia due to cerebral palsy: a psychogenic illness in child neurology. Ann N Y
review. Eur J Paediatr Neurol 2018;22(2):308-315. Acad Sci 2013;1304:40-44. doi:10.1111/nyas.12298
doi:10.1016/j.ejpn.2017.12.002
58 Hull M, Parnes M, Jankovic J. Increased incidence
44 American Academy of Cerebral Palsy and of functional (psychogenic) movement disorders
Developmental Medicine. Dystonia in cerebral in children and adults amid the COVID-19
palsy care pathway. Accessed October 7, 2021. pandemic: a cross-sectional study. Neurol Clin
aacpdm.org/publications/care-pathways/ Pract 2021;11(5):e686-e690. doi:10.1212/CPJ.
dystonia 0000000000001082
45 Riederer P, Foley P. Mini-review: multiple 59 Olvera C, Stebbins GT, Goetz CG, Kompoliti K.
developmental forms of parkinsonism. TikTok tics: a pandemic within a pandemic.
The basis for further research as to the Mov Disord Clin Pract 2021;8(8):1200-1205.
pathogenesis of parkinsonism. J Neural doi:10.1002/mdc3.13316
Transm 2002;109(12):1469-1475. doi:10.1007/
s007020200095 60 Heyman I, Liang H, Hedderly T. COVID-19 related
increase in childhood tics and tic-like attacks
46 Yokochi M. Development of the nosological [published online March 6, 2021]. Arch Dis Child.
analysis of juvenile parkinsonism. Brain Dev 2000; doi:10.1136/archdischild-2021-321748
22:81-86. doi:10.1016/S0387-7604(00)00131-5
1518 OCTOBER 2022

61 Kipps CM, Fung VSC, Grattan-Smith P, de Moore 62 Gilbert DL. Drug-induced movement disorders in
GM, Morris JGL. Movement disorder children. Ann N Y Acad Sci 2008;1142(1):72-84.
emergencies. Mov Disord 2005;20(3):322-334. doi:10.1196/annals.1444.005
doi:10.1002/mds.20325
63 Rodnitzky RL. Drug-induced movement disorders
in children. Semin Pediatr Neurol 2003;10(1):
80-87. doi:10.1016/S1071-9091(02)00013-X

Diagnosing Common Movement Disorders in Children

Uploaded by

Document Information

Original Title

Copyright

Available Formats

Share this document

Share or Embed Document

Sharing Options

Did you find this document useful?

Is this content inappropriate?

Copyright:

Available Formats

Diagnosing Common Movement Disorders in Children

Uploaded by

Copyright:

Available Formats

REVIEW ARTICLE

As telehealth has become more prevalent as a means of

1476 OCTOBER 2022

Copyright © American Academy of Neurology. Unauthorized reproduction of this article is prohibited.

NORMAL DEVELOPMENT OF MOTOR CONTROL ● Voluntary movement

Movement Employs the “Whole Brain”

Movement Requires a Fine Balance of Inhibitory and Excitatory Signaling

Copyright © American Academy of Neurology. Unauthorized reproduction of this article is prohibited.

Voluntary Movement Is Multiphasic

OBTAINING AN EFFECTIVE PEDIATRIC MOVEMENT DISORDER

Phenomenology and History of Present Illness

1478 OCTOBER 2022

Copyright © American Academy of Neurology. Unauthorized reproduction of this article is prohibited.

Copyright © American Academy of Neurology. Unauthorized reproduction of this article is prohibited.

living arrangements? If care is split between multiple households, are

PEDIATRIC MOVEMENT EXAMINATION

Know the Developmental Milestones of Infancy and Childhood

1480 OCTOBER 2022

Copyright © American Academy of Neurology. Unauthorized reproduction of this article is prohibited.

Build Engagement Deliberately

Copyright © American Academy of Neurology. Unauthorized reproduction of this article is prohibited.

Use Creative Play

A Word About Motor Assessment Tools

1482 OCTOBER 2022

Copyright © American Academy of Neurology. Unauthorized reproduction of this article is prohibited.

Copyright © American Academy of Neurology. Unauthorized reproduction of this article is prohibited.

TABLE 11-1 Common Benign Pediatric Movement Disordersa

Shaking Benign Neonatal Myoclonic jerks Normal None None

Jitteriness Neonatal Jittery, Mild Review maternal Monitor for

Shuddering Infancy → Infant with Normal None None

Benign Infancy → 2 y Myoclonic jerks Normal EEG is typically Follow to ensure

Self- Infancy → Episodes are Normal; home Can be difficult None

CONTINUED ON PAGE 1485

1484 OCTOBER 2022

Copyright © American Academy of Neurology. Unauthorized reproduction of this article is prohibited.

Abnormal Paroxysmal Infancy → Episodes of Normal Consider EEG if Consider risk of

Benign Infancy → first Segmental Normal None if history Follow to ensure

CONTINUED ON PAGE 1486

Copyright © American Academy of Neurology. Unauthorized reproduction of this article is prohibited.

Abnormal Tics Early Highly variable Normal; may None Continued

Abnormal Stereotypies Infancy or early Typically Normal None None

CONTINUED ON PAGE 1487

1486 OCTOBER 2022

Copyright © American Academy of Neurology. Unauthorized reproduction of this article is prohibited.

Head Spasmus Infancy → Episodes of Nystagmus, Brain MRI Regular neurology

Head Early Episodic head Episodes of None Rule out visual

Copyright © American Academy of Neurology. Unauthorized reproduction of this article is prohibited.

child is not distressed by their stereotypies but is actually enjoying performing

Tics and Tourette Syndrome

1488 OCTOBER 2022

Copyright © American Academy of Neurology. Unauthorized reproduction of this article is prohibited.

Copyright © American Academy of Neurology. Unauthorized reproduction of this article is prohibited.

TABLE 11-2 Categorical Framework for Disorders Associated With Pathologic

Paroxysmal movement disorders

CONTINUED ON PAGE 1491

1490 OCTOBER 2022

Copyright © American Academy of Neurology. Unauthorized reproduction of this article is prohibited.

Secondary noninherited causes of movement disorders

CONTINUED ON PAGE 1492

Copyright © American Academy of Neurology. Unauthorized reproduction of this article is prohibited.

CONTINUED FROM PAGE 1491 CONTINUED FROM PAGE 1491

CONTINUED ON PAGE 1493

1492 OCTOBER 2022