DEVELOPMENTAL DELAY

 How do we define normal development in childhood?

 What is the prevalence of developmental and behavioural problems in children?
 What are the most reliable sources of information regarding the development of children?
 What tools are available to help us firstly screen and secondly assess behaviour and development?
 How might you go about characterising the problem? (i.e. is it an isolated delay or a more global problem; are
there psychiatric, social and/or organic components?)
 How and when do we investigate developmental problems?
 When should such problems reach the attention of a specialist and who assesses and manages such problems?
 What implications may behavioural and developmental problems have for the future education of the child?
 How do these problems present most often?

The Preschool Years

 2-5 year olds
 Emergence of language and exposure of children to an expanding social sphere
o Exploration of emotional separation, alternating between stubborn opposition and cheerful compliance,
between bold exploration and clinging dependence
 Increasing time spent in classrooms and playgrounds challenges a child's ability to adapt to new rules and
relationships
 Preschool children know that they can do more than ever before, but they are also very aware of the constraints
imposed on them by the adult world and their own limited abilities.
 Physical development
o somatic and brain growth slows
 ↓ in nutritional requirements and appetite
 Picky eating habits
 2kg/year and 7-8cm/year growth
 Physical energy peaks, and the need for sleep declines
o Most children walk with a mature gait and run steadily before the end of their 3rd yr
o Handedness is usually established by the 3rd yr
o Bowel and bladder control emerge during this period
 Girls tend to train faster and earlier
 Bed-wetting is normal up to age 4 yr in girls and age 5 yr in boys
 Refusal to defecate in the toilet or potty is relatively common and can lead to constipation and
parental frustration
o Highly active children face increased risks of injury, and parents should be counseled about safety
precautions.
o Parental concerns about possible hyperactivity may reflect inappropriate expectations, heightened fears,
or true overactivity
 LANGUAGE
o Language development occurs most rapidly between 2 and 5 yr of age
o Vocabulary increases from 50–100 words to more than 2,000
o Sentence structure advances from telegraphic phrases (“Baby cry”) to sentences incorporating all of the
major grammatical components.
o Preschool language development lays the foundation for later success in school
o The period of rapid language acquisition is also when developmental dysfluency and stuttering are most
likely to emerge;
 Cognition
o magical thinking, egocentrism, and thinking that is dominated by perception
o Attitudes about violence are formed early, and early exposure has been associated with later behavior
problems.
 Emotional and moral development
o include accepting limits while maintaining a sense of self-direction, reining in aggressive and sexual
impulses, and interacting with a widening circle of adults and peers
 o At 2 yr of age, behavioral limits are predominantly external; by 5 yr of age, these controls need to be
internalized if a child is to function in a typical classroom
o Young children cannot control many aspects of their lives, including where they go, how long they stay,
and what they take home from the store. They are also prone to lose internal control, that is, to have
temper tantrums. Fear, overtiredness, inconsistent expectations, or physical discomfort can also evoke
tantrums
o Preschool children normally experience complicated feelings toward their parents that can include
strong attachment and possessiveness toward the parent of the opposite sex, jealousy and resentment
of the other parent, and fear that these negative feelings might lead to abandonment
o Curiosity about genitals and adult sexual organs is normal, as is masturbation

DEVELOPMENTAL DISORDERS
 abnormalities in one or more aspects of development, such as verbal, motor, visual-spatial, attentional, and
social abilities
o diagnosed by comparing the child's performance level with norms accumulated from observation and
testing of children of the same age
o Typically problems with motor development and speech present early, but problems affecting
receptivelanguage, socialisation and cognition present late
 3–5% of children have developmental delay of at least mild–moderate severity
 may remain undiagnosed unless specific assessment is undertaken
 often noted by parents when a child does not meet typical motor and language milestones
 Developmental disorders may also include difficulties with behaviour or attention
o ADHD is the most common neurodevelopmental disorder → 2–10% of school-aged children
o Mild developmental disorders are often not noted until the child is of school age.
 In the assessment of the child, it is important to document adverse psychosocial factors, such as neglect or
poverty, which can negatively influence developmental progress
o Also biologic factors
 Clinician role → determine child’s development is significantly aberrant for their age and to determine the
underlyingreasons for this, realising that developmental delay may not have a clearly identifiable medicalbasis

Evaluation
 neurodevelopmental evaluation
1. defining the child's level of developmental abilities in a variety of domains, including language,
motor, visual-spatial, attentional, and social abilities
2. attempting to determine the etiology for the child's developmental delays
3. planning a treatment program
 Multidisciplinary team→physician, a psychologist, a speech or language therapist, an occupational therapist,
and an educational specialist
o The physician is usually the integrator of the information from the team and must also obtain a
detailed medical and developmental history and conduct the physical and neurologic examinations.
 Medical history
o pregnancy, labor, and delivery to identify conditions that might compromise the child's CNS function
 prenatal exposures to toxins, medications, alcohol, drugs, smoking, and infections; maternal
chronic illness; complications of pregnancy or delivery; and neonatal course
o Problems such as failure to thrive, chronic illnesses, hospitalizations, and abuse
o Any CNS problems, such as trauma, infection, or encephalitis should be documented.
o metabolic diseases, such as diabetes or phenylketonuria, and exposure to environmental toxins such
as lead
o Chronic diseases such as chronic otitis media, hyper- or hypothyroidism, and chronic renal failure
o presence of motor or vocal tics, seizures, or sleep disturbances should be documented
o parents should be questioned about any motor, cognitive, or behavioral regression.
o child's difficulties with tantrums, poor attention, impulsivity, hyperactivity, or aggression should be
documented.
 o detailed history of school-related events should be recorded, including previous special education
support, evaluations through the school, history of repeating grades, difficulties with specific
academic areas, problems with peers, and the teacher's impressions of the child's difficulties
o detailed family history of learning strengths and weaknesses, emotional or behavioral problems,
learning disabilities, mental retardation, or psychiatric disorders
 Parental learning strengths and weaknesses, temperament difficulties, or attentional
problems may be passed on to the child. Eg. Dyslexia
 Neurodevelopment
o child's growth parameters, including height, weight, and head circumference, need to be assessed,
along with hearing and visual acuity
o dysmorphic features such as epicanthal folds, palpebral fissure size, shape of the philtrum, low-set
or posteriorly rotated ears, prominent ear pinnae, unusual dermatoglyphics (eg, a single palmar
crease), hyperextensibility of the joints, syndactyly, clinodactyly, or other unusual features
o physical and neurologic examination needs to be carried out with an emphasis on both soft and hard
neurologic findings
 Visual-motor coordination abilities can be assessed by having the child write, copy designs,
or draw a person
o motor or vocal tics
o Dyspraxia (motor planning difficulties or imitating complex motor movements) and disorders of fine
motor coordination are fairly common
o Tandem walking, one-foot balancing, and coordinating a skip may often show surprising
abnormalities
o Tremors can be noted when watching a child stack blocks or draw.
o expressive language abilities, the examiner should look for difficulties with word retrieval,
formulation, and articulation, and adequacy of vocabulary.
o Throughout the assessment the clinician should pay special attention to the child's ability to focus
attention and concentrate, and to other aspects of behavior such as evidence of depression or
anxiety

Differential Diagnosis
 chromosomal: Down syndrome, trisomy 13, trisomy 18
 metabolic: Tay-Sachs, PKU, adrenoleukodystrophies
 cerebral degenerative: Huntington's chorea, SSPE
 prenatal infection: TORCHS, HIV
 postnatal infection: meningitis, encephalitis, HIV
 toxic agents/drugs: alcohol, street drugs
 trauma/hypoxia: birth trauma, intracerebralhemorrhage
 other syndromes: cerebral malformations, neurofibromatosis, autism
 sensory defects: vision, hearing

Developmental surveillance
 PEDS (Parents’ Evaluation of Developmental Status )
o 10 questions based on research of parents’ concerns
o systematicallyelicit parents’ concerns and guide referral decisions
o validated from birth to 8 years
 Informal clinical judgement is unreliable as a method for detecting developmental problems
o Milestone checklistsserve as an aid to memory by recording what isexpected of the average child at
each age in several domains of developmental function
 often difficult to distinguish thechild with true developmental delay from the normal child
with below-average milestoneattainment
 Formal screening tests
o Denver II and the Australian Developmental Screening Test
o objective discrimination of the child who probably has a developmentaldelay from the child who
probably does not
o not definitive
 o Bayley Scales of Infant Development and the Griffith’s Developmental Scales

Transient developmental delay may be associated with:

• Prematurity.
• Physical illness.
• Prolonged hospitalisation.
• Family stress.
• Lack of opportunities to learn.

Causes of persistent developmental delay (developmental disability) include

• Language disorders.
• Intellectual disability.
• Cerebral palsy.
• Autism.
• Hearing impairment.
• Visual impairment.
• Degenerative disorders.
• Neuromuscular disorders.

 Once suspicion regarding a child’s development has been raised → complete paediatric consultation
o full details of the family, obstetric, neonatal anddevelopmental histories
o Liaison with the GP and a maternal and child health
o history of loss of previously attained developmentalskills is suggestive of regression rather than
delay, and requires more comprehensiveinvestigation to exclude neurodegenerative conditions
o Observation of how the child looks,listens, moves, explores, plays, communicates and socialises is
essential before the formalexamination
 Assessment and management may include input from physiotherapists,speech pathologists, teachers,
occupational therapists, psychologists and social workers.

Principles of assessment
These include:
• Utilisation of play as a fundamental assessment tool.
• Promotion of optimal performance of the child.
• Gearing the assessment towards remediation rather than merely producing a profi le.
• Involvement of the parents in the assessment process.
• Close linking of the assessment with services offering help and support.
Early intervention
 prevention and early detection of disabilities, as well as health,educational and community services that
assist the child, family and community in adaptingto the child’s developmental needs and disability
 aims → minimise the handicapping effects of the child’s disabilityon their development and education, and
to support the family in understanding andproviding for their child’s individual needs
 services:
o individual teaching and therapy(speech and occupational therapy)
o family support and counselling
o providing resources andsupport to childcare,preschools and respite care
 usually regionally based and are provided by government and non-government agencies
 5 Medicare funded allied health consultations perperson, per year by GP referral to obtain private
physiotherapy or speech therapy.

Education
 special educational strategies
 Paediatricians liaise closely with schools to assist with meeting the child’s educationalneeds.

Family supports
 social security benefits
 home help and respitecare through foster agencies and community residential units

Intellectual disability
 The definition of intellectual disability comprises three elements:
1. a significantly subaverage general intellectual functioning (i.e. 2 standard deviations belowthe mean of
the intelligence quotient) that exists concurrently with
2. deficits in adaptive behaviour, and
3. manifests itself during the developmental period.
 Up to 2.5% of children have an intellectual disability: approximately 2% mild and 0.5%moderate, severe or
profound.
Causes
Prenatal
• Chromosomal; e.g. trisomy 21, fragile X syndrome and velocardiofacial syndrome (22q11-deletion
syndrome).
• Genetic; e.g. tuberous sclerosis and metabolic disorders.
 • Major structural anomalies of the brain.
• Syndromes; e.g. Williams, Prader–Willi, Rett.
• Infections; e.g. cytomegalovirus.
• Drugs; e.g. alcohol.
o children of low birthweight are at risk for intellectual disability: the lower thebirthweight, the greater the risk.
Perinatal
• Infections.
• Trauma.
• Metabolic abnormalities.
Postnatal
• Head injury.
• Meningitis or encephalitis.
• Poisons.
Presentation
• At birth with a known syndrome or malformation.
• At follow-up in high-risk infants.
• Language delay.
• Global developmental delay.
• Learning difficulties.
• Behaviour problems.
• With associated medical complications (e.g. epilepsy).

 A biological cause for moderate, severe and profound intellectual disability can be identifiedmore readily
than in those with a mild intellectual disability.
 In disability requiring extensivesupport, a cause may be identified in up to 2/3 of cases.
 In people with mild intellectualdisability, the cause is identifiable in <20% of individuals.
 Where a cause is identified,the majority are caused by problems during the prenatal period with 10% due to
perinataland 5% due to postnatal insults.
 The three most common identifiable causes of intellectualdisability are trisomy 21, fragile X syndrome and
velocardiofacial syndrome.

Investigations
It is important to establish aetiology where possible in order to understand prognosis, providegenetic counselling
and to ensure that associated problems are detected.
The following investigations should be considered:
• Chromosomes, especially for fragile X, William and Prader–Willi syndromes using DNAprobes and FISH for
22q11-deletion.
• MRI of the brain.
• Creatinine phosphokinase in boys (for neuromuscular disorders).
• Plasma amino acids.
• Urinary organic and amino acids.
• Thyroid function tests.
• Mucopolysaccharide screen.
• Investigation for congenital infection: ophthalmological and audiological examination,maternal/infant
serology and viral culture (cytomegalovirus).
Despite thorough investigation, the cause is often not identified.
Management
• Support and information for parents.
• Referral to and liaison with other practitioners, early intervention, family support andeducational services.
• Child advocacy.
• Regular assessment of vision and hearing.
• Investigation for associated anomalies (e.g. cardiac and thyroid status with trisomy 21).
• Treatment of associated disorders (e.g. epilepsy).
• Monitoring of development.

LANGUAGE DELAY
Differential Diagnosis
 hearing impairment
o not responsive to sounds out of sight
o prelinguistic skills (e.g. cooing, babbling) may initiallydevelop normally but may decrease due to lack
of feedback
o no impairment in social interaction
o causes
o genetic (30-50%)
o congenital infection (e.g. rubella, CMV)
o meningitis
o ototoxic medications (e.g. aminoglycosides)
 cognitive disability
o global developmental delay, mental retardation
o both receptive and expressive language components affected
o child often has interest in communication
 pervasive developmental disorder (including autism)
o poor social interaction and language impairment, especially expressive
 selective mutism
o only speaks in certain situations, usually at home
o usually starts at age 5-6 years when child goes to school
o healthy children with no hearing impairment
o often above average intelligence
 Landau-Kleffner syndrome (acquired epileptic aphasia)
o presents in late preschool to early school age years
o child begins to develop language normally, then suddenregression of language
o child has severe aphasia with EEG changes
o often has overt seizure activity
o initial presentation may be similar to autism
 mechanical problems
o cleft palate
o cranial nerve palsy
 social deprivation

Irritability in children with profound disability

Irritability in children can present the clinician with diagnostic uncertainty, amplified in those patients with
difficulties in communication or complex medical illness. In children withsevere cerebral palsy the following
differentials should be considered:
 Muscle spasm.
 Seizure.
 Pain:
o Consider all the usual sites of o Corneal abrasion/foreign body in the
infection eye.
o Gastro-oesophageal refl ux. o Pancreatitis.
o Dental abscess/caries. o Renal colic.
 o Surgical – appendicitis, o Side effects of medication e.g.
intussusception, torted testes. anticonvulsants.
o Severe constipation. o Gynaecological.
o Subluxing or dislocated hips. o Sleep deprivation (associated with
o Fractures – accidental or inflicted. pain and spasm).
o Increased intracranial pressure (many
children have VP shunts).

Spina bifida (myelomeningocele)

 most common severe congenital malformation of the nervous system
 degree of impairment from the spinal cord pathology varies
 most have lower limb dysfunction, sensory loss and a neurogenic bladder and bowel
 80% have progressivehydrocephalus requiring surgery
 Many children have specific learning problems
 Prevention
o Periconceptional folic acid supplementation (in the month before and in the first 3 monthsof
pregnancy)
 Women with epilepsy on anticonvulsants should also be advised to take the larger dose
 Management
o collaboration between health, education and welfare professionals
o Most children attend regular schools
o interdisciplinary team of paediatricians, surgeons, neuropsychologists, physiotherapists,orthotists,
occupational therapists, social workers and stomal therapists

Autism spectrum disorder (PERVASIVE DEVELOPMENTAL DISORDER (PDD))

 autism
o prevalence M:F = 4:1
o risk in sibling 8-9%
o onset prior to 3 years of age
 Asperger’s syndrome
o prevalence M>F
o impaired social interaction
o language and cognition better than in autism
o restricted, repetitive, stereotyped patterns of behaviour,interests and activities
o better prognosis than in autism

PDD
 spectrum of disorders
o Include: autistic disorder, Asperger’s syndrome and atypical autism
o behavioral phenotype
 Diagnosis:
o Presence of 3 core features by 3 years of age:
  Qualitative impairment of social interaction.
 Qualitative impairment in communication.
 Restricted, repetitive and stereotyped patterns of activities, behaviour and interests.
o No singletest for autism spectrum disorders
 Made by a multidisciplinaryteam of a paediatrician/child psychiatrist, speech pathologist and
psychologist

4 main areas of functioning affected

1. lack of reciprocal social interaction
 lack of interest in peers and poor group participation
 higher functioning individuals with PDD lack depth in theirinteractions with people: inflexibility, lack
of reciprocity andempathy
2. problems with verbal and non-verbal communication
 delay in onset of expressive and receptive language
 characteristics of autism: echolalia, perseveration,abnormalities in volume, pitch and rate of speech
3. restricted and repetitive behaviours
 stereotypic: hand-flapping, head-banging, rocking, repetitivefinger movements, spinning, etc.
 ritualistic: checking, touching
4. abnormal cognitive function
 majority exhibit mental retardation
 may have good memory and visuospatial function
 poor symbolization and understanding of abstract ideas andtheoretical concepts
 higher functioning PDD children may have consuming interest inone topic to the exclusion of other
topics
 Prevalence:nearly 1% of the population with a sex ratio of 3 males : 1 female
o Depends on definitions
o All PDD → 58.7 per 10,000 children
 autism (22/10,000)
 Asperger syndrome (11/10,000)
 Pervasive Developmental Disorder not otherwise specified (24.8/10,000)
 child disintegrative disorder (0.9/10,000)
o incidence of the diagnosis of autism may have increased →related to improved diagnosis and defintions
 Aetiology
o neurodevelopmental disorder of unknown etiology
o Factors:
 Genetic: recurrence rate in families of 2–6%.
 60–90% concordance rate for monozygotic twins and a 0% concordance rate for
dizygotic twins
 heterogeneous, attributed to as many as 100 genes → interact with varied
environmental causes
 Autism and Asperger disorder are 4 and 8 times more prevalent in males than in
females, respectively, suggesting a strong X-linked component
 Syndromal:
 there is an association with tuberous sclerosis, epilepsy, fragile X syndrome and
congenital rubella. (NO ASSOCIATION WITH MMR VACCINE)
 Structural: subtle brain abnormalities are described in some children.
 In first 2 years of life → tremendous neuronal and axonal growth, synapse formation,
and myelination
 Possible abnormally rapid increase in head circumference from 6–14 mo of age
 MRI studies shown increased brain volume characterized by increased volume of the
cerebellum, cerebrum, and amygdala compared with normal volumes.
 abnormal growth in the first 2 yr is most marked in the frontal, temporal, cerebellar, and
limbic regions of the brain, the areas of the brain responsible for higher-order cognitive,
language, emotional, and social functions, which are most impaired in autism
  This period of early, accelerated brain growth appears to stop early in childhood and is
followed by abnormally slow or arrested growth, resulting in areas of underdeveloped
and abnormal circuitry in parts of the brain
 Other studies shown changes in anterior cingulate gyrus (decision making centre)
o NOT associated with certain emotionally distant parenting styles (“refrigerator mothers”)
 Associated disorders:
o Intellectual disability (75%).
o Epilepsy (20%).
o Other: ADHD, anxiety disorders and depression, Tourette syndrome.
 Clinical features
o Parents will often identify that something is different about their child before the secondbirthday.
o Early features include lack of:
 Pretend play.
 Pointing out objects to another person.
 Social interest.
 Joint attention.
 ability to use eye contact and pointing for the purposes of sharing experiences with
others
 typically develops by 18 mo
 protoimperative pointing (the use of pointing to obtain an object of desire) and
protodeclarative pointing (the use of pointing to an object of interest simply to have
another share in the interest with him or her) also absent
 Social play.
 typically aberrant, characterized by little symbolic play, ritualistic rigidity, and
preoccupation with parts of objects
 often withdrawn and spends hours in solitary play
o Language development is delayed, with an unusual use of language
 Regression of languagemay be seen
 range from being nonverbal to having advanced speech, capable of imitating songs, rhymes, or
television commercials
 quality of their speech and language→odd prosody or intonation and may be characterized by
echolalia, pronoun reversal, nonsense rhyming, and other idiosyncratic language forms
o vary with the severity of the impairment
 some may make no eye contact and seem totally aloof, whereas others may show intermittent
engagement with their environment and may make inconsistent eye contact, smile, and hug
o all children with autism manifest some degree of impairment in the areas of reciprocal social interaction,
communication, and restrictive and repetitive stereotypical patterns of behavior, interests, or activities
o Intellectual functioning can vary from mental retardation to superior intellectual functioning in select
areas
 Some have certain skills in specific areas, such as puzzles, art, or music
o Stereotypical body movements, a marked need for sameness, and a very narrow range of interests are
also common
 Ritualistic behavior prevails, reflecting the child's need to maintain a consistent, predictable
environment → Tantrum-like rages may accompany disruptions of routine
o Eye contact is typically minimal or absent.
 Visual scanning of hand and finger movements, mouthing of objects, and rubbing of surfaces
may indicate a heightened awareness of and sensitivity to some stimuli, whereas diminished
responses to pain and lack of startle responses to sudden loud noises reflect lowered sensitivity
to other stimuli.
o psychologic testing
 usually falls in the functionally retarded range
 lack of a theory of mind
 deficits in their understanding of what the other person might be feeling or thinking
 some pay more attention to specific details while overlooking the entire gestalt of the object,
demonstrating a lack of central coherence
 PHYSICAL EXAM
 o 25% can have macrocephaly (by 2 years age)
 Look for other dysmorphic features or focal neurologic, otherwise neuroimaging not indicated
o Exam skin for hypopigmented lesions of tuberous sclerosis with a Wood lamp
o identify the dysmorphic features of fragile X syndrome (long face, large ears, large testes) and Angelman
syndrome (ataxic gait, broad mouth)
o audiologic evaluation and a comprehensive speech and language evaluation should be undertaken in any
child with language delays
o lead level should be checked if the child shows signs of pica or lives in a high-risk environment
o Chromosomal analysis should be performed if the child has evidence of mental retardation and
dysmorphic features
o EEG if developmental regression or suspicion of seizures
 Management
o Multidisciplinary. It includes:
 Parent support and education.
 Appropriate screening of vision/hearing, investigation for associated disorders/syndromes if
suspected.
 Early intervention programmes, including a well-structured and predictable environment with:
 Behavioural modification.
o Before 3 years age can improve both language capacity and later social
functioning
 Speech therapy.
 Special education.
o should begin as early as possible, preferably by age 2–4 yr
 Sensorimotor programmes.
 A combination of educational, developmental and behavioural treatments has been shown to
improve a child’s rate of progress.
 Drug therapy is sometimes used to treat co-morbid psychopathology (e.g. attentional and
behavioural problems, anxiety, self injury). It does not affect the core autistic symptoms.
 behaviors include hyperactivity, tantrums, physical aggression, self-injurious behavior,
stereotypies, and anxiety symptoms, especially obsessive-compulsive behaviors
 atypical neuroleptics (risperidone, olanzapine) are efftive
 Stimulants, SSRIs, and clonidine also used
o The SSRIs, in particular, appear to be somewhat effective in diminishing
hyperactive, agitated, and obsessive-compulsive behaviors
 Psychotherapy for:
 Older children and adolescents with relatively higher intelligence, but with poor social
skills and psychiatric symptoms (depression, anxiety, obsessive-compulsive disorder)
 Procedures such as →enhancement (rewards emphasizing appropriate choice) and
reduction (extinction, time-out, punishment).
 Social skill training
 For family:
 Advice regarding educational options.
 Support groups.
 Access to respite care.
 Families of children with autism spectrum disorder will often seek alternative health
care, sometimes at considerable cost. It is important for parents to be aware and
informed of what is available and the evidence supporting/refuting such strategies, such
that an educated choice can be made.
 Prognosis
o Some children, especially those with speech, may grow up to live self-sufficient, employed, albeit
isolated, lives in the community
 better prognosis is associated with higher intelligence, functional speech, and less bizarre
symptoms and behavior
o Many others remain dependent on their family for their everyday lives or require placement in facilities
outside the home
 o Because early, intensive therapy may improve language and social function, delayed diagnosis may lead
to a poor outcome
 cost of delayed diagnosis across the life span is high
o no increased risk of schizophrenia in adulthood
o The symptom profile for some children may change as they grow older and seizures or self-injurious
behavior becomes more common.

Asperger’s syndrome
 Normal intelligence (although it may range from borderline to superior).
 No obvious delay in language development .
 Impaired social and communication skills with an egocentric approach to others.
 Social immaturity.
 A narrow range of obsessional interests (such as knowledge of sporting statistics, astronomy, public
transport systems).
 Lack of common sense.
Common co-morbidities
Anxiety disorders
• Obsessive compulsive disorder occurs in about 25% of people with Asperger’s syndrome.
• Post-traumatic stress disorder.
• School refusal.
• Selective mutism.
• Social anxiety disorder.
Depression
Up to 1/3 of children and adults with Asperger’s syndrome are clinically depressed.
Management
 Specific educational, behavioural and supportive psychological and psychotherapeutic treatments are used.
 Teaching social skills and friendship skills, emotion education and management. Monitor co-morbidities
Rett Syndrome
 autism spectrum disorder
o considering removal in DSM-5
 neurodevelopmental disorder of the grey matter of the brain
o almost exclusively affects females
 Clinical features
o small hands and feet
o deceleration of the rate of head growth
o Repetitive hand movements, such as wringing and/or repeatedly putting hands into the mouth
o prone to gastrointestinal disorders
o up to 80% have seizures
o no verbal skills typically
o 50% of individuals affected are not ambulatory
o Scoliosis, growth failure, and constipation also very common
 DDx include → Angelman syndrome, cerebral palsy and autism.
 Cause
o caused by mutations in the gene MECP2 located on the X chromosome, and can arise sporadically or
from germline mutations
o Diagnosed by a clinical observation, and in some very rare cases, no known mutated genes can be
found.
 Development
o Development appears to be normal until 6–18 months, followed by period of developmental
stagnation followed by a developmental regression where language and motor milestones regress,
purposeful hand use is lost, and acquired deceleration in the rate of head growth (resulting in
microcephaly in some) is seen
 Hand stereotypes are typical, and breathing irregularities such as hyperventilation,
breathholding, or sighing are seen in many
o Early on, autistic-like behavior may be seen
 During regression, some features are similar to those of autism.
  Similar to autism signs:
 screaming fits
 inconsolable crying
 avoidance of eye contact
 lack of social/emotional reciprocity
 markedly impaired use of nonverbal behaviors to regulate social interaction
 loss of speech
 sensory problems.
 Similar to cerebral palsy:
 possible short stature
 hypotonia
 delayed or absent ability to walk
 gait/movement difficulties
 ataxia
 microcephaly in some - abnormally small head, poor head growth
 gastrointestinal problems
 some forms of spasticity
 chorea - spasmodic movements of hand or facial muscles
 dystonia
 bruxism – grinding of teeth.
o Signs may stabilize for many decades, particularly for interaction and cognitive function such as
making choices
o Asocial behavior may change to highly social behaviour
 Management
o management of gastrointestinal (reflux, constipation) and nutritional (poor weight gain) issues
o Surveillance of scoliosis and long QT syndrome
o increasing the patient's communication skills, especially with augmentative communication
strategies
o parental counseling
o modifying social medications
o sleep aids
o selective serotonin reuptake inhibitors (SSRIs)
o anti-psychotics (for self-harming behaviors)
o beta-blockers rarely for long QT syndrome
o occupational therapy, speech therapy and physical therapy (for children with Rett syndrome).
 Mortality
o Males with pathogenic MECP2 mutations usually die within the first 2 years from severe
encephalopathy
o Females can live up to 40 years or more

Fetal Alcohol Syndrome (Fas) and Fetal Alcohol Effects (Fae)

 prevalence
o FAS: 1 in 500-600
o FAE: 1 in 300-350
 not known how much alcohol is harmful during pregnancy
 no "safe" level of alcohol consumption during pregnancy
 broad spectrum of developmental problems, ranging from
learning disabilities to severe intellectual disability.
o learning disabilities; poor impulse control; and problems
in memory, attention, and judgment
Fetal Alcohol Syndrome
 prenatal alcohol exposure
 Diagnostic criteria
o A: Growth deficiency
 low weight and/or short length at birth that continues through childhood
 o B: Abnormal craniofacial features
 small head, small eyes, long smooth philtrum, thin upper lip, maxillary hypoplasia
o C: Central nervous system dysfunction
 microcephaly and/or neurobehavioral dysfunction (e.g. hyperactivity, motor problems,
attention deficits, learning disabilities, cognitive disabilities)
o D: Strong evidence of maternal drinking during pregnancy
 But diagnosis can be made without
Fetal Alcohol Effects
 child born to a mother who was known to be drinking heavily during pregnancy
 child has some but not all of physical characteristics of FAS

Evaluation & Management

 assessment by a multidisciplinary team
o examination of growth, facial and other dysmorphic features, developmental or cognitive abilities,
behavioral function, and the documentation of prenatal alcohol exposure
 difficulty with complex cognitive tasks and executive function (planning, conceptual set shifting, affective set
shifting, response inhibition, and fluency).
o process information slowly
o difficulty with attention and short-term memory
o at risk for social difficulties and mood disorders
 Types of structure that may be helpful are visual structure (color code each content area), environmental
structure (keep work area uncluttered, avoid decorations), and task structure (clear beginning, middle, and
end)
 Psychopharmacologic intervention may be needed to address issues such as attention and mood

FRAGILE X SYNDROME
 most common inherited cause of ID/MR
o caused by a trinucleotide expansion (CGG repeated sequence) within the fragile X mental
retardation I (FMR1) gene
 The normal population includes 5–50 repeats, permutation carriers have 54-2000 (but
unaffected)
 Women with the premutation have a higher incidence of premature ovarian failure,
anxiety, and mild facial dysmorphisms
o seemingly unaffected females can pass an expansion of the CGG repeat to
the next generation
 Males with the premutation are at risk for developing fragile X tremor ataxia
syndrome (FXTAS).
 Approximately 1 in 250 women and 1 in 700 men in the general population are premutation
carriers
 When a premutation of more than 90 repeats is passed on by a female to her
offspring, it will expand to a full mutation (more than 200 repeats) 100% of the time,
which usually causes ID/MR or learning disabilities
o Individuals with ID/MR of unknown origin should receive FMR1 DNA testing
 Significant learning and emotional problems.
 Symptoms
o ID/MR
o Shyness, social anxiety, and learning problems
o Gender variation
 Girls are usually less affected by the syndrome because they have a second X chromosome
that is producing FMR1 protein
 70% of girls with the full mutation have cognitive deficits in addition to emotional
problems, such as mood lability, ADHD, anxiety, and shyness
  Approximately 85% of males with the syndrome have ID/MR and autistic-like
features, such as poor eye contact, hand flapping, hand biting, and tactile
defensiveness
o About 20% of fragile X males meet the criteria for autism.
o As the boys move into puberty, macro-orchidism develops
o Childs face may also grow longer in puberty
o Cognitive and language delays, hyperactivity, and difficult behavior in early childhood
o 70% have prominent ears and hyperextensible finger joint
 diagnosis must be suspected because of behavioral problems and developmental delays alone
 Management
o Speech and language therapy
o Occupational therapy
o behavioral psychologist
o Psychopharmacology can also be useful to treat ADHD, aggression, anxiety, or severe mood
instability
 Clonidine or guanfacine may be helpful in low doses, beginning in the preschool period to
treat hyperarousal, tantrums, or severe hyperactivity
 Stimulant medications such as methylphenidate (Ritalin) and dextroamphetamine (Adderall)
are usually beneficial by age 5 years and occasionally earlier
 Anxiety → SSRI
o genetic counselling
 Female carriers have a 50% risk of having the fragile X mutation
 Male carriers are at risk for developing FXTAS, a neurodegenerative disorder, as they age

ATTENTION-DEFICIT/HYPERACTIVITY DISORDER (ADHD)

 common neurodevelopmental disorder
 substantial genetic component
 Core features:
o poor impulse control
o limited sustainedattention to tasks
o often with motor hyperactivity
 Common associated features
o oppositional defiant behaviour, anxiety, learning difficulties and tics.
o Up to 25% of children with ADHD seen in a referral clinic have tics or Tourette syndrome. Conversely,
well over 50% of individuals with Tourette syndrome also have ADHD.
 DSM-IV criteria, most have combined type (appears at 7years age)
o three ADHD subtypes: hyperactive-impulsive, inattentive, and combined
o Girls have a higher prevalence of the inattentive subtype; boys have a higher prevalence of the
hyperactive subtype
 Biological associations
o ADHD is also associated with a variety of genetic disorders related to developmental disorders,
including fragile X syndrome, Williams syndrome, Angelman syndrome, XXY syndrome (Klinefelter
syndrome), and Turner syndrome.
o Fetal alcohol syndrome (FAS) is also strongly associated with ADHD.
o CNS trauma, CNS infections, prematurity, and a difficult neonatal course with brain injury can also be
associated with later ADHD.
o Metabolic problems such as hyperthyroidism can sometimes cause ADHD
 Assessment
o History
 focusing on attachment, early development, socialskills and academic progress
o Physical
 neurodevelopment assessment
 Fine and gross motor coordination, visual-motor integration, auditory and visual
sequencing
o School reports
o Psychoeducational assessment
o Audiology
 Management
o A multimodal strategy
o Behaviour modification
 Parents and teachers need to apply structured behavioural modification strategies
 Predictable routines are required both at home and at school
o Educational strategies
 individualised plan
 seating the child at the front of the classroom
 Frequent breaks
 Clear rules and predictable routines are important with
positive reinforcement
 Medication
o Stimulants
 Psychostimulant medication is the single most effective
intervention for children with ADHD
 effective in about 75% of cases
 helping children to control antisocialverbal and physical
impulses and sustain attention to tasks to enable work
completion andacademic success nearer their potential
 secondary benefits → improved peer status,family functioning and self-esteem
 Main side effects → appetite suppression
 Weight, height and blood pressureneed to be monitored regularly

 Ritalin (Methylphenidate)
 Also used in postural orthostatic tachycardia syndrome and narcolepsy
 increases the levels of dopamine and norepinephrine in the brain throughreuptake
inhibition of the respective monoamine transporters
o structural and pharmacological similarities to cocaine
o ↑ or maintains alertness, combating fatigue, and improving attention
 Not approved <6 years age
 Long-term effects largely unknown
 Side effects
o most common side effects of methylphenidate are nervousness, drowsiness
and insomnia
 Others: abdominal pain, appeittite loss, anxiety, cardiac arrhythmia,
dizziness, angina, hypersentivity reaction, headaches, lethargy,
nausea, palpitations, stunted growth, tachycardia etc
o Possible long term psychosis (hallucinations)
 Tolerance and behavioural sensitisation may occur with long-term
 Special precaution is recommended in individuals with epilepsy
o Other medications
 Atomoxetine, a selective noradrenaline reuptake inhibitor, which is given once daily
 Clonidine, which can help smooth out explosive behaviour and assist with sleep onset
 Antidepressants (tricyclics, SSRI, SNRI) are particularly beneficial if there is associatedanxiety
 Other strategies
o unproven complementary therapies
 behavioural optometry, cerebellar training exercises, chiropractic, etc
o elimination of synthetic food colourings and preservatives is beneficialin a small number of children

Prognosis
 Most children with ADHD will continue to have some difficulties through adolescence andinto adulthood
 many develop good compensating strategies and function very well
 significant minority suffer long-term complications including academic underachievement, school drop-out,
delinquency, vocational disadvantage and relationship difficulties
 with stimulant medication appear to be less likely to develop substance abuse in adolescence and adult life
than those left untreated.