CHILD PSYCHIATRY

CHILD PSYCHIATRY B. Concurrent deficits or impairments in present adaptive

functioning (i.e... the person's effectiveness in meeting the
 Child psychiatric evaluation standards expected for his or her age by his or her
 Identified patient and family members cultural group) in at least two of the following areas:
 Source of referral communication. Self-care, home living, social/interpersonal
 Informants skills, use of community resources, self-direction,
functional academic skills, work, leisure, health, and
History safety.
 Chief complaint
 History of present illness C. The onset is before age 18 years.
 Developmental history and milestones Code based on degree of severity reflecting level of intellectual
impairment:
 Psychiatric history
 Medical history, including immunizations
Mild Mental Retardation IQ level 50-55 to
 Family social history and parents’ marital status
approximately
 Educational history and current school functioning
 Peer relationship history
Moderate Mental IQ level 35-40 to 50-55
 Current family functioning
Retardation
 Family psychiatric and medical histories
 Current physical examination
Severe Mental Retardation IQ level 20-25 to 35-40

 Mental status examination

Profound Mental IQ level below 20- 25
 Neuropsychiatric examination (when applicable)
Retardation
 Developmental, psychological, and educational testing
 Formulation and summary
Mental Retardation, Severity When there is a strong
 DSM-IV-TR diagnosis
Unspecified presumption of Mental
 Recommendations and treatment plan
Retardation but the person's
intelligence is untestable by
MENTAL STATUS EXAMINATION FOR CHILDREN
standard tests
1. Physical appearance
2. Parent-child interaction
3. Separation and reunion MENTAL RETARDATION SYNDROMES AND
4. Orientation to time, place, and person BEHAVIORAL PHENOTYPES
5. Speech and language
6. Mood DOWN’S SYNDROME
7. Affect
8. Thought process and content Pathophysiology
9. Social relatedness  Trisomy 21, 95% nondisjunction, approx, 4%
10. Motor behavior translocation
11. Cognition  1/1,000 live births: 1:2,500 in women less than 30
12. Memory years old, 1:80 over 40 years old, 1:32 at 45 years old
13. Judgment and insight  Possible overproduction of β-amyloid due to defect at
21q21.1

Clinical Features and Behavioral Phenotype

 Hypotonia
 Upward-slanted palpebral fissures
 Midface depression
 Flat wide nasal bridge
 Simian crease
 Short stature
 Increased incidence of thyroid abnormalities and
congenital heart disease
 Passive, affable, hyperactivity in childhood, stubborn
 Verbal > auditory processing
 Increased risk of depression
 Dementia of the Alzheimer type in adulthood
MENTAL RETARDATION CRITERIA

A. Significantly subaverage intellectual functioning: an IQ of

approximately 70 or below on an individually administered
IQ test (for infants, a clinical judgment of significantly
subaverage intellectual functioning).

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FRAGILE X SYNDROME  Compulsive behavior

 Hyperphagia
Pathophysiology  Hoarding
 Inactivation of FMR-1 gene at X q27.3 due to CGG base  Impulsivity
repeats, methylation  Borderline to moderate mental retardation
 Recessive; 1:1,000 male births, 1:3,000 female; accounts  Emotional lability
for 10-12% of mental retardation in males  Tantrums
 Excess daytime sleepiness
Clinical Features and Behavioral Phenotype  Skin picking
 Long face  Anxiety
 Large ears  Aggression
 Midface hypoplasia
 High arched palate, short stature ANGELMAN SYNDROME
 Macroorchidism
 Mitral valveprolapse Pathophysiology
 Joint laxity  Deletion in 15q12 (15q11-15q13) of maternal origin
 Strabismus  Dominant
 Frequent deletion of γ-aminobutyric acid (GABA) B-3
 Hyperactivity receptor subunit
 Inattention  Prevalence unknown but rare, estimated 1/20,000-
 Anxiety 1/30,000
 Stereotypies
 Speech and language delays Clinical Features and Behavioral Phenotype
 IQ decline  Fair hair and blue eyes (66%)
 Gaze aversion  Dysmorphic faces including wide smiling mouth, thin
 Social avoidance upper lip, and pointed chin
 Shyness  Epilepsy (90%) with characteristic EEG
 Irritability  Ataxia
 Learning disorder in some females  Small head circumference, 25% microcephalic
 Mild mental retardation in affected females, moderate  Happy disposition
to severe in males  Paroxysmal laughter
 Verbal IQ > performance IQ  Hand flapping, clapping
 Profound mental retardation
 Sleep disturbance with nighttime waking
 Possible increased incidence of autistic features
 Anecdotal love of water and music

PHENYLKETUNURIA

Pathophysiology
 Defect in phenylalanine hydroxylase (PAH) or cofactor
(biopterin) with accumulation of phenylalanine
PRADER WILLI SYNDROME  Approximately 1/11,500 births; varies with
geographical location
Pathophysiology  Gene for PAH, 12q22-24.1
 Deletion in 15q12 (15q11-15q13) of paternal origin;  Autosomal recessive
some cases of maternal uniparental disomy
 Dominant 1/10,000 live births Clinical Features and Behavioral Phenotype
 90% sporadic  Symptoms absent neonatally, later development of
 Candidate gene: small nuclear ribonucleoprotein seizures (25% generalized), fair skin, blue eyes, blond
polypeptide (SNRPN) hair, rash
 Untreated: mild to profound mental retardation,
Clinical Features and Behavioral Phenotype language delay, destructiveness, self-injury,
 Hypotonia hyperactivity
 Failure to thrive in infancy
 Obesity FETAL ALCOHOL SYNDROME
 Small hands and feet microorchidism
 Cryptorchidism
Pathophysiology
 Short stature
 Maternal alcohol consumption (trimester lll>ll>l)
 Almond-shaped eyes
 1/3,000 live births in Western countries
 Fair hair and light skin
 1/300 with fetal alcohol effects
 Flat face
 Scoliosis
Clinical Features and Behavioral Phenotype
 Orthopedic problems
 Microcephaly
 Prominent forehead
 Short stature
 Bitemporal narrowing
 Midface hypoplasia
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 Short palpebral fissure AUTISTIC DISORDER

 Thin upper lip  Average age of diagnosis 3.1 years
 Retrognathia in infancy  4 to 5x> boys
 Micrognathia in adolescence  Genetic chromosomes 2,4,7, 15 19
 Hypoplastic long or smooth philtrum  Twin studies
 Mild to moderate mental retardation  Perinatal complications
 Irritability  Fragile X syndrome-1%
 Inattention
 Tuberous sclerosis- 2%
 Memory impairment
 Mental retardation-70%
 Grand mal-4 to 32%
TUBEROUS SCLEROSIS COMPLEX 1 AND 2
 Hypoplasia of cerebellum
Pathophysiology
 Polymicrogyria
 Benign tumors (hamartomas) and malformations
 ?Immunological incompatibility
(hamartias) of central nervous system (CNS), skin,
 Increased brain volume in O,P,T lobes
kidney, heart
 ? Inc. Neurogenesis
 dominant; 1/10,000 births
 ? Dec. Death
 50% TSC 1, 9q34
 50% TSC 2, 16p13  ?Inc. Nonneuronal tissue
 Decrease purkinje cells
Clinical Features and Behavioral Phenotype  High plasma serotonin inversely proportional to 5HIAA
 Epilepsy concentration in CSF
 Autism  Symptom decrease as ratio of HIAA to homovanillic acid
 Hyperactivity (Major dopamine metabolite) in CSF increase
 Impulsivity
 Aggression DSM-IV-TR Diagnostic Criteria for Autistic Disorder
 Spectrum of mental retardation from none (30%) to
profound A. A total of six (or more) items from (1), (2), and (3), with
 Self-injurious behaviors, sleep disturbances at least two from (1), and one each from (2) and (3):

NEUROFIBROMATOSIS TYPE 1 1. Qualitative impairment in social interaction, as

manifested by at least two of the following:
Pathophysiology a. Marked impairment in the use of
 1/2,500-1/4,000; male = female multiple nonverbal behaviors such as
 autosomal dominant eye-to-eye gaze, facial expression,
 50% new mutations; more than 90% paternal NF1 body postures, and gestures to
allele mutated regulate social interaction
 NFl gene 17q11.2
 gene product is neurofibromin thought to be tumor b. Failure to develop peer relationships
suppressor gene appropriate to developmental level

Clinical Features and Behavioral Phenotype c. A lack of spontaneous seeking to

 Variable manifestations share enjoyment, interests, or
 Cafe au lait spots, cutaneous neurofibromas, Lisch achievements with other people (e.g.,
nodules by a lack of showing, bringing, or
 Short stature and macrocephaly in 30- 45% pointing out objects of interest)
 Half with speech and language difficulties
 10% with moderate to profound mental retardation d. Lack of social or emotional
 Verbal IQ > performance IQ reciprocity
 Distractible, impulsive, hyperactive, anxious
 Possibly associated with increased incidence of mood 2. Qualitative impairments in communication as
and anxiety disorders manifested by at least one of the following:
a. Delay in, or total lack of, the
development of spoken language
(not accompanied by an attempt to
PERVASIVE DISORDERS compensate through alternative
 Impaired reciprocal social interactions modes of communication such as
 Aberrant language development gesture or mime)
 Restricted behavioral repertoire
 Emerge in young children before the age of 3 years b. In individuals with adequate speech,
marked impairment in the ability to
DSM-IV-TR includes five pervasive developmental disorders initiate or sustain a conversation
 Autistic disorder with others
 Rett's disorder
 Childhood disintegrative disorder c. Stereotyped and repetitive use of
 Asperger's disorder language or idiosyncratic language
 Pervasive developmental disorder not otherwise specified

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 CHILD PSYCHIATRY

d. Lack of varied, spontaneous make- • Play rigid and monotonous

believe play or social imitative play • Resistant to change
appropriate to developmental level • Rituals and compulsive phenomena often

3. Restricted repetitive and stereotyped patterns TREATMENT

of behavior, interests, and activities, as
manifested by at least one of the following:
a. Encompassing preoccupation with
one or more stereotyped and
restricted patterns of interest that is
abnormal either in intensity or focus
 Educational and behavioral interventions
 Drugs- atypical antipsychotics for aggressive and self
injurious behavior
 (Risperidone, Olanzapine, Quetiapine, Clozapine)
 Irritability- Escitalopram
 Methylphenidate- hyperactivity

b. Apparently inflexible adherence to

RETT’S DISORDER
specific, nonfunctional routines or
• Females > Males
rituals
• Progressive encephalopathy- microcephaly
Loss of purposeful hand movement
c. Stereotyped and repetitive motor
Loss of speech
mannerisms (e.g., hand or finger
Psychomotor retardation
flapping or twisting, or complex
Ataxia
whole-body movements)
Disorganized breathing
Epileptiform discharges
d. Persistent preoccupation with parts
of objects
DSM-IV-TR Diagnostic Criteria for Rett's Disorder

B. Delays or abnormal functioning in at least one of the

A. All of the following:
following areas, with onset prior to age 3 years: (1)
1. apparently normal prenatal and perinatal
social interaction, (2) language as used in social
development
communication, or (3) symbolic or imaginative play.
2. apparently normal psychomotor development
through the first 5 months after birth
C. The disturbance is not better accounted for by Rett's
3. normal head circumference at birth
disorder or childhood disintegrative disorder.
B. Onset of all of the following after the period of normal
QUALITATIVE IMPAIRMENT IN SOCIAL
development:
INTERACTION
1. deceleration of head growth between ages 5
and 48 months
 Absent social smile, anticipatory posture, poor eye
2. loss of previously acquired purposeful hand
contact
skills between ages 5 and 30 months with the
 Can’t differentiate important persons
subsequent development of stereotyped hand
 Poor ability to play, make friends
movements (e.g., hand wringing or hand
 More skilled in visuo-spatial tasks than in verbal
washing)
reasoning
3. loss of social engagement early in the course
 Can’t infer feelings, lack empathy
(although often social interaction develops
later)
DISTURBANCE IN COMMUNICATION AND LANGUAGE
4. appearance of poorly coordinated gait or
 Minimal babbling
trunk movements
 Emit noises
5. severely impaired expressive and receptive
 Speak by providing information
language development with severe
 Pronoun reversals
psychomotor retardation
 Say more than they understand, echolalia
AUTISTIC CHILDREN
DIFFERENTIAL DIAGNOSIS

 Instability of mood and affect

Autistic disorder Rett’s syndrome
 Abnormal response to sensory stimuli
 Enjoy vestibular stimulation
Hand mannerisms Hand motions always
 Enjoy music
inconstant present
 Hyperkinesis
 Self injurious behavior
Normal gross motor Poor coordination , ataxia
 Short attention span
function and apraxia
 Poor ability to focus on a task
 Enuresis
Use aberrant language Verbal ability lost
 Splinter function
completely
 Islets of precocity
Respiratory irregularity
Seizures appear early
STEREOTYPED BEHAVIOR
• Absent exploratory play
• No imitative play

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CHILDHOOD DISINTEGRATIVE DISORDER (HELLER’S
SYNDROME)
• 4-8 males: 1 female
• Onset between 3 to 4years
• Associated with seizures and tuberous sclerosis
• Onset insidious, or abrupt
• Anxiety common
DSM-IV-TR Diagnostic Criteria for Childhood Disintegrative
Disorder
A. Apparently normal development for at least the first 2
years after birth as manifested by the presence of age-
appropriate verbal and nonverbal communication,
social relationships, play, and adaptive behavior.
B. Clinically significant loss of previously acquired skills
(before age 10 years) in at least two of the following
areas:
1. expressive or receptive language
2. social skills or adaptive behavior
3. bowel or bladder control
4. play
5. motor skills
C. Abnormalities of functioning in at least two of the
following areas:
1. qualitative impairment in social interaction
(e.g., impairment in nonverbal behaviors,
failure to develop peer relationships, lack of
social or emotional reciprocity)
2. qualitative impairments in communication
(e.g., delay or lack of spoken language, inability
to initiate or sustain a conversation,
stereotyped and repetitive use of language,
lack of varied make-believe play)
3. restricted, repetitive, and stereotyped patterns
of behavior, interests, and activities, including
motor stereotypies and mannerisms
D. The disturbance is not better accounted for by another
specific pervasive developmental disorder or by
schizophrenia.
DSM-IV-TR Diagnostic Criteria for Asperger's Disorder
A. Qualitative impairment in social interaction, as
manifested by at least two of the following:
1. marked impairment in the use of multiple
nonverbal behaviors such as eye-to-eye gaze,
facial expression, body postures, and gestures
to regulate social interaction
2. failure to develop peer relationships
appropriate to developmental level
3. a lack of spontaneous seeking to share
enjoyment, interests, or achievements with
other people (e.g., by a lack of showing,
bringing, or pointing out objects of interest to
other people)
4. lack of social or emotional reciprocity
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B. Restricted repetitive and stereotyped patterns of
behavior, interests, and activities, as manifested by at
least one of the following:
1. encompassing preoccupation with one or
more stereotyped and restricted patterns of
interest that is abnormal either in intensity or
focus
2. apparently inflexible adherence to specific,
nonfunctional routines or rituals
3. stereotyped and repetitive motor mannerisms
(e.g., hand or finger flapping or twisting, or
complex whole-body movements)
4. persistent preoccupation with parts of objects
C. The disturbance causes clinically significant impairment
in social, occupational, or other important areas of
functioning.
D. There is no clinically significant general delay in
language (e.g., single words used by age 2 years,
communicative phrases used by age 3 years).
E. There is no clinically significant delay in cognitive
development or in the development of age-appropriate
self-help skills, adaptive behavior (other than in social
interaction), and curiosity about the environment in
childhood.
F. Criteria are not met for another specific pervasive
developmental disorder or schizophrenia.
ATTENTION DEFICIT HYPERACTIVITY DISORDER
• Males > Females
• Relatives with increased incidence of disruptive
behavior disorder, anxiety disorders, depressive
disorders, learning disorders
• Parents- hyperkinetic, sociopathy, alcohol use disorder,
conversion
Etiology
• CNS normal structure
• Genetic factors
• ? Prenatal infection during first trimester
• Soft neurological signs
• Abnormal ne & dopamine
• Abnormal feedback to the locus ceruleus
• Non specific EEG abnormality
• Lower CBF and metabolism in the frontal lobe
• Non inhibition by the frontal lobe
• Emotional deprivation
• Increased dopamine transporter binding densities in
the striatum
DSM-IV-TR Diagnostic Criteria for Attention-
Deficit/Hyperactivity Disorder
A. Either (1) or (2):
1. six (or more) of the following symptoms of
inattention have persisted for at least 6
months to a degree that is maladaptive and
inconsistent with developmental level:
Inattention
a. often fails to give close attention to
details or makes careless mistakes in
schoolwork, work, or other activities
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 CHILD PSYCHIATRY
b. often has difficulty sustaining
attention in tasks or play activities
c. often does not seem to listen when
spoken to directly
d. often does not follow through on
instructions and fails to finish
schoolwork, chores, or duties in the
workplace (not due to oppositional
behavior or failure to understand
instructions)
e. often has difficulty organizing tasks
and activities
f. often avoids, dislikes, or is reluctant
to engage in tasks that require
sustained mental effort (such as
schoolwork or homework)
g. often loses things necessary for tasks
or activities (e.g., toys, school
assignments, pencils, books, or tools)
h. is often easily distracted by
extraneous stimuli
i. is often forgetful in daily activities
2. Six (or more) of the following symptoms of
hyperactivity-impulsivity have persisted for
at least 6 months to a degree that is
maladaptive and inconsistent with
developmental level:
Hyperactivity
a. often fidgets with hands or feet or
squirms in seat
b. often leaves seat in classroom or in
other situations in which remaining
seated is expected
c. often runs about or climbs
excessively in situations in which it is
inappropriate (in adolescents or
adults, may be limited to subjective
feelings of restlessness)
d. often has difficulty playing or
engaging in leisure activities quietly
e. is often “on the go― or often
acts as if “driven by a motor―
f. often talks excessively
Impulsivity
g. often blurts out answers before
questions have been completed
h. often has difficulty awaiting turn
i. often interrupts or intrudes on
others (e.g., butts into conversations
or games)
B. Some hyperactive-impulsive or inattentive symptoms
that caused impairment were present before age 7
years.
C. Some impairment from the symptoms is present in two
or more settings (e.g., at school [or work] and at home).
D. There must be clear evidence of clinically significant
impairment in social, academic, or occupational
functioning.
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E. The symptoms do not occur exclusively during the
course of a pervasive developmental disorder,
schizophrenia, or other psychotic disorder and are not
better accounted for by another mental disorder (e.g.,
mood disorder, anxiety disorder, dissociative disorder,
or a personality disorder).
Code based on type:
Attention-deficit/hyperactivity disorder, combined type: if
both Criteria A1 and A2 are met for the past 6 months
Attention-deficit/hyperactivity disorder, predominantly
inattentive type: if Criterion A1 is met but Criterion A2 is not
met for the past 6 months
Attention-deficit/hyperactivity disorder, predominantly
hyperactive-impulsive type: if Criterion A2 is met but Criterion
A1 is not met for the past 6 months
Coding note: For individuals (especially adolescents and adults)
who currently have symptoms that no longer meet full criteria,
(in partial remission)• should be specified.
ADHD
• Short attention span
• Easy distractibility
• Explosive
• Irritable
• Emotionally labile
• Mood and performance unreliable
• Impairment in two settings
• Hyperactivity
• Perceptual motor impairment
• General coordination deficit
• Attention deficit
• Impulsivity
• Memory and thinking deficits
• Specific learning disabilities
ADHD COURSE AND PROGNOSIS
• 50 -50
• Overactivity first to remit
• Distractibility last
• Remission unlikely before 12 years
• Age of remission 12-20 years
• Persistence- family disorder, negative life
events,comorbid conduct disorder, depression, anxiety
disorder
• Partial remission-antisocial behavior,subsatnce use
disorder mood disorder
TREATMENT
• Methylphenidate-dopamine agonist
• Given in the morning
• Older than 6
• Suppress growth
• Headaches,stomachache, nausea and insomnia
• Dextroamphetamine
• Atomoxetine-NE uptake inhibitor
tabs
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