[ Psychiatric ] Child Psychiatry 3

Autism Spectrum Disorder genetics: Mutation prevalence

15% with known genetic mutation.

Autism Spectrum Disorder genetics: Most common single-gene cause

Fragile X syndrome (MC single-gene cause).

Autism Spectrum Disorder genetics: Other strong syndromic associations

Down syndrome, Rett syndrome, Tuberous sclerosis.

Autism Spectrum Disorder clinical associations: Neurological and cognitive

Epilepsy, Increased head/brain size (macrocephaly), High comorbidity with intellectual disability.

Autism Spectrum Disorder management (Core approach): Primary modalities

Multidisciplinary team, Behavioral therapy (ABA), Social skills training, Special education programs, Parent + family training/support.

Autism Spectrum Disorder management (Comorbidities): Pharmacological targeting

ADHD → stimulants, Anxiety/depression → SSRIs, OCD symptoms → SSRIs/CBT.

Autism Spectrum Disorder management (Pharmacotherapy): Role limitation

Does NOT treat core ASD symptoms.

Autism Spectrum Disorder management (Pharmacotherapy): Indication for atypical antipsychotics

Atypical antipsychotics: irritability, aggression, self-injury, severe agitation.

Autism Spectrum Disorder prognosis: Key predictors of adult outcome

Level of intellectual functioning, Language impairment.

Intellectual Disability definition: Prevalence and core concept

A global impairment of intellectual functioning (1%).

Intellectual Disability definition: Affected cognitive domains

Reasoning, memory, abstract thinking, Judgment, language, learning.

Intellectual Disability diagnostic criteria: Onset timeline

Begins during developmental period (childhood/adolescence).

Intellectual Disability diagnostic criteria (Intellectual deficits): Confirmation methods

Confirmed by: Clinical assessment + standardized IQ testing.

Intellectual Disability diagnostic criteria (Intellectual deficits): IQ threshold

IQ typically ≥2 SD below mean (≈ <70).

Intellectual Disability diagnostic criteria (Adaptive deficits): Core requirement

Impairment in ability to meet developmental and sociocultural standards for independence.

Intellectual Disability diagnostic criteria (Adaptive deficits): Conceptual skills examples

Conceptual skills: language, reading, writing, money management.

Intellectual Disability diagnostic criteria (Adaptive deficits): Social skills examples

Social skills: communication, relationships, social judgment.

Intellectual Disability diagnostic criteria (Adaptive deficits): Practical skills examples

Practical skills: personal care, occupational skills, independent living.

Intellectual Disability etiology: Idiopathic prevalence

Idiopathic in 50%.

Intellectual Disability etiology: Most common chromosomal cause

Down syndrome → MC chromosomal cause.

Intellectual Disability etiology: Most common known genetic cause

Fragile X syndrome → MC known genetic cause.

Intellectual Disability etiology: Most common preventable cause

Fetal alcohol syndrome → MC preventable cause