Autisitic Spectrum Disorder Child Psychiatry 8 th Dec 2015 Tuesday Dr. Sami Adil 1

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 Autistic spectrum disorder (ASD) characterised by:  Impairments in social communication  ritualistic, restricted, repetitive behaviors (RRBs)  Typically evident during 2 nd year of life. May be noted earlier, or later, according to severity.  When at 12 months or 18 months no language !!!  1/3 have intellectual diability (ID) 4

epidemiology  Spectrum = variability within and across these areas  The prevalence of autism spectrum disorders in US approx. 1 %  4 times more common in boys

Etiology of autism: No single cause of autism is found till now, there are many factors that have been found:

Genetic factors (concordance rate higher in MZ than DZ, but studies differ in numbers). It seems that it is polygenetic (i.e. not related to only one single gene). Some known genetically caused syndromes include ASD as part of their phenotype: e.g. Fragile X is present in 2-3 % of individuals with ASD, and 2% of children with ASD also have tuberous sclerosis.

Biomarkers: several markers of abonormal signaling in the serotonin system, the mTOR- linked synaptic plasticity mechanism, and alterations of the GABA system. Both structural and functional neuroimaging studies have suggested specific biomarkers: e.g. (structural: total brain volume, head circumferences, size of amygdala, size of striatum) (functional: tasks of face perception, different areas activated during tasks involving “theory of mind” which is hypothesized to represent dysfunction of mirror neuron system).

Immunological factors (blood group incompatibility, maternal antibodies)

Prenatal and perinatal factors (Prenatal: advances maternal and paternal age, maternal gestational bleeding, gestational diabetes, and first born baby) (perinatal: umbilical cord cx, birth trauma, fetal distress, small for gestational age, low birth wt, low 5-minute Apgar score, congenital malformation, blood group incompatibility, and hyperbilirubinemia) no sufficient evidence to implicate any of those factors.

5.Comorbid neurological disorders (patients with ASD have more than usual EEG abnormalities, and seizure disorders) 6.Psychosocial theories (clearly refuted مدحضة ) the recent evidence shows no difference in child-rearing skills.

DSM 5 dx and clinical features: The DSM 5 states that both these two must be present since childhood and that they cause dysfunction: 1.Persistent deficits in social communication and interaction. 2.Restricted, repetitive patterns of behavior (RRB)

Clinical features Deficits in social communication: they may not develop social smile, lack anticipatory posture for being picked up, poor eye contact, atypical attachment behavior, no strong stranger’s anxiety, lack of theory of mind, poor friendships at school. Language is monotonous with poor prosody, and pronoun reversal.

RRB poor exploratory and symbolic play. They enjoy spinning. They develop strong attachment to a particular inanimate object. Compulsions: lining up objects. They may have self-injurious behavior and stereotypies. They don’t like changes in routines. 14

Other clinical features: Thirty percent of patients with ASD have Intellectual Disability Irritability is a major sign and is the target of pharmacotherapy as we will see in tr. Abnormal response to sensory stimuli (overrespond to sound, and underresond to pain). Hyperactivity and inattention are common. Insomnia is a frequent problem. Some of ASD patients develop precocious skills (great memory, musical abilities, hyperlexia, or calculating abilities). 15

DDx. 1.Hearing disorder 2.Schizophrenia with childhood onset 3.Psychosocial deprivation 4.Intellectual disability syndromes

Course and prognosis It is lifelong disorder. Variable severity. Best prognosis is for those who have IQ above 70, and develop language by ages 5 to 7 years.

Treatment: A.Psychosocial interventions: 1.Early intensive beh. & developmental Interventions: and this may involve also training the parents for special skills. 2.Social Skills Approaches 3.Behavioral Interventions and CBT for RRBs and Associated Symptoms: 4.Special schooling.

A.Psychopharmacological interventions Mainly directed to treat associated behavioral symptoms (irritability, aggression, hyperactivity etc.), but not the core features of autism. Irritability: two 2 nd generation antipsychotics are FDA approved (risperidone and aripiprazole). Resperidone is also effective for repetitive stereotypic behavior. Aripiprazole is also effective for self-injury, tantrums, and aggression. For hyperactivity, impulsivity, and inattention, the used of methylphenidate is moderately helpful. For insomnia, the use of melatonin has shown efficacy.

References: Synopsis of Psychiatry (2015) Kaplan and Sadock’s