autism & adhd

AUTISM & ADHD

DR. PIYUSH OJHADM RESIDENT

DEPARTMENT OF NEUROLOGYGOVT MEDICAL COLLEGE, KOTA

• Current estimated frequency – 1 per 100 children

• Males >>> females ( 4 times)• Both advanced maternal and paternal age may

play a role (Durkin et al 2008)• High concordance in monozygotic twins (5-

10%)

AUTISTIC SPECTRUM DISORDERS (ASD)

• Symptoms of ASD often change with age.• Early markers of the disease include

• Atypical eye contact• Decreased response to name• Poor imitation• Absent social smile• Passive temperament• Delayed language


• Sibling studies suggest there are both early-onset(clear by 12 months) and late-onset(clear by 18 months) forms of autism. (Zwaigenbaum et al 2009)

• Approx 1/3 of autistic children regress between ages of 1-3, with a peak at 2 years. (Lord et al 2004)

• Conversely some toddlers and preschoolers with typical symptoms of autism may no longer appear autistic by school age.

• Most children however retain the typical features of autism, particularly those who are intellectually impaired.


• Outcome studies of children diagnosed with ASD have shown that although 40% may show overall improvement during adolescence, as many as 1/3 may deteriorate (Howlin et al 2005).

• Autistic adults who are not intellectually impaired tend to improve more than those who are intellectually impaired.


• INTELLIGENCE & COGNITION :-– IQ is not a defining criteria for ASD diagnosis.– 70-85% children with ASD are intellectually

disabled.– IQ is a key predictor of long-term outcome in

autism, especially those with <50 – fare poorly.– So normal IQ is a positive prognostic sign.

• COMMUNICATION :- – Verbal & nonverbal communication disturbance

are cardinal features.– Lower functioning ASD children have echolalia

with common stereotyped phrases.– Some children may have verbal auditory agnosia.– Higher functioning children talk too much with

with semantic and pragmatic defects.– Long term prognosis correlate with language skill

at 5-6 yr age.– Pretend play is often impaired.

• SOCIAL SKILLS :- – Social dysfunction is a cardinal feature of ASD.– “The Aloof Child” most resembles the popular

notion of autism.– Donot follow their parents around, run to greet

them or seek comfort.– Donot make social approaches, but accept when

made by others.– Engage in pretend play but take a passive role.

• RESTRICTED RANGE OF BEHAVIORS, INTERESTS AND ACTIVITIES :- – Another cardinal feature of autism.– Consist of repetitive stereotyped behaviors like

rocking, flapping, licking and opening and closing doors.

– Tic disorders and obsessive-compulsive disorders may be another manifestation.

EVALUATION OF ASD• Clinical history and observation of child are the basis for

diagnosis of an ASD.• Several questionnaires for parents are available for

quantifying the diagnostic criteria.• For young children – the Modified Checklist for Autism in

Toddlers (M-CHAT)• The Autism Diagnostic Observation Scale(ADOS) and Autism

Diagnostic Interview-Revised (ADI-R) are the gold standard diagnostic measures but are time consuming and require special training to administer.

• Neurological examination is generally normal.• Often clumsy.• Macrocephaly occurs in approx 1/3 of cases.• Tuberous sclerosis is probably the most common

definable cause of Autism.• Audiometry testing to rule out hearing disorders.• EEG to exclude subclinical seizures when there is

impaired language comprehension or developmental regression.

• Mild to severe epilepsy – 1/3 cases and onset may play a role in deterioration.

ETIOLOGY OF ASD

• Neuropsychological theories :-– Underdeveloped theory of mind(TOM)– Weak central coherence– Executive dysfunction


• Diagnosis currently requires early onset of triad of :– Impaired sociability– Impaired verbal and non-verbal communication

and– Restricted activity and interests. (Rapin and

Tuchman 2006)

TENTATIVE DSM-5 CRITERIA FOR AN AUTISTIC SPECTRUM DISORDER DIAGNOSIS

1. Clinically significant, persistent deficits in social communication and interaction , as manifested by all of following :

a. Marked deficits in nonverbal and verbal communication used for social interaction

b. Lack of social reciprocityc. Failure to develop and maintain peer relationships

appropriate to developmental level

TENTATIVE DSM-5 CRITERIA FOR AN AUTISTIC SPECTRUM DISORDER DIAGNOSIS

2. Restricted, repetitive patterns of behavior, interests and activities, as manifested by at least TWO of the following :a. Stereotyped motor and verbal behaviors or

unusual sensory behaviorsb. Excessive adherence to routines and ritualized patterns

of behaviorc. Restricted, fixated interests

3. Symptoms must be present in early childhood (but may not manifest until social demands exceed limited capacities)

DSM = Diagnostic and Stastical Manual of Mental Disorders

MEDICATIONS FOR AUTISM

• HYPERACTIVITY AND INATTENTION :-– Psychostimulants (Methylphenidate, Dextroamphetamine),

clonidine

• OBSESSIVE COMPULSIVE DISORDERS :-– TCA’s, SSRI ( Fluoxetine, Setraline, Paroxetine,

Fluvoxamine) ; Atypical Neuroleptics (Olanzapine etc)

• AGGRESSIVE & IMPULSIVE BEHAVIORS :-– Mood stabilizers (Carbamazepine, Divalproex sodium,

Gabapentin, Lithium) ; clonidine ; Beta-blockers (Propranolol)

MEDICATIONS FOR AUTISM

• TICS AND STEREOTYPES :-– Clonidine, Clonazepam, Haloperidol, Baclofen, Deep brain

stimulation

• SELF MUTILATION :-– Naloxone, propranolol, fluoxetine, clomipramine, lithium

• PSYCHOSIS:-– Neuroleptics, Haloperidol, Risperidone, Olanzapine

ATTENTION DEFICIT HYPERACTIVITY DISORDER (ADHD)

• First described in 1902 by George Still• Most common childhood behavioral disorder

diagnosed in outpatient settings in the US.• Worldwide prevalence = 5.2%


• According to the DSM-IV criteria, ADHD is a behavioral and neurocognitive condition characterized by developmentally inappropriate and impairing levels of gross motor overactivity, inattention, and impulsivity.


ETIOLOGY OF ADHD• The exact etiology is yet to be determined.• Growing consensus-functional and anatomical dysfunction

in the brain's frontal cortex and basal ganglia segments of the cortico-basal ganglia-thalamo-cortical circuitry.

• Family studies have suggested that genetic factors play an important role in ADHD.

• First-degree relatives of children with ADHD have a 20 to 25 percent risk for ADHD.

• If a parent has ADHD, 50 percent of his or her offspring are likely to have that condition.

• Dopamine appears to be the primary neurotransmitter involve in ADHD.(Cools 2008)

• The dopamine D4 receptor (DRD4) has been the most well studied and is prevalent in basal ganglia-frontal networks implicated in the pathophysiology of ADHD.

• Most structural and functional imaging studies have shown abnormalities in frontal and striatal regions

POSSIBLE ENVIRONMENTAL CAUSES/ CONTRIBUTORS TO ADHD

• Chronic illness : asthma, celiac disease, sleep disorder• Endocrine : thyrotoxicosis, hypothyroidism• Epilepsy• Genetic disorder : Turner syndrome, Fragile X syndrome• Infections : otitis media, HIV• Metabolic disorders : phenylketonuria• Prematurity• Psychosocial adversity• Toxins (pre & postnatal) : maternal smoking, alcohol, lead,

mercury• Trauma : head injury

CLINICAL FEATURES OF ADHD

• Most children with ADHD are referred for care because of impairment in academic, family, and/or peer relationship functioning.

• Symptoms of impulsivity, overactivity, and inattention drive this impairment across the lifespan.

• Symptoms of gross motor overactivity decreases with age

• Impairment from inattention and impulsivity may continue with age

• There are 5 main diagnostic criteria: (1) an onset before age 7 years

(2) duration greater than 6 months (3) an 18-item symptom list of which 6 of 9 inattention

or 6 of 9 hyperactive/impulsive symptoms have persisted for at least 6 months to a degree that is maladaptive and inconsistent with developmental level.

(4) some impairment in two or more settings (eg at school and at home) ; and

(5) symptoms that 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, such as depression.

• There must be clear evidence of clinically significant impairment in social, academic, or occupational functioning.

CRITERIA FOR DIAGNOSIS OF ADHDADHD HYPERACTIVE,

IMPULSIVE SYMPTOMSADHD INATTENTION

SYMPTOMS

• Fidgets with hands or feet• Leaves seat in classroom or situations where sitting is expected• Runs about or climbs excessively inappropriately• Has difficulty playing quietly• Often on the go “as if driven by a motor”• Talks excessively

• Blurts out answers even before question is completed• Difficulty awaiting turn• often interrupts others

• Has difficulty sustaining attention &makes careless mistakes• Doesnot give close attention to details• Doesnot seem to listen• Doesnot follow through• Has difficulty organizing tasks• Avoids engaging in tasks requiring sustained mental effort (eg homework)• Often loses necessary things (toys, pencil, books etc)• Easily distracted• Forgetful in daily activities

OTHER FEATURES OF ADHD• Due to lack of Persistence - become bored with

interactive games with peers - leave such games early even before they are finished.

• Often show difficulty with time management with inability to maintain an internal sense of pace in planning tasks.

• Impaired executive functioning with disturbed goal-directed behavior.

• Recent data show - academic functioning is more strongly affected by impulsivity (to get through tests quickly) rather than poor executive functioning.

• Often associated with dysregulation of affect – leading to temper outbursts, mood lability, and reactivity.

• Problems accurately interpreting nonverbal social cues and do react inappropriately – reported by peers as insensitive to the needs of others.

• Donot cooperate with other children or follow rules in games.

• ADHD children often have strong reactions - overreacting to situations - can be predictably triggered by others, leading to teasing and ridicule - a strong stimulus for peer rejection - shown to be a reliable long-term negative predictor of development, particularly in adolescence.

EVALUATION OF A CASE OF ADHD

• Detailed history (prenatal, perinatal, toddler, and preschool phases of development) – Primary basis of diagnosis.

• History should be taken from multiple informants (parents, teachers etc).

• Neurological examination is generally normal.• Executive frontal lobe functions – ability to

initiate, inhibit, sustain and shift attention, organizational skills – are often impaired.

COURSE & PROGNOSIS

• Approximately 60 % of those who develop childhood ADHD continue to be impaired well into adult life.

• Adult ADHD prevalence - 4 %• Present with instability in job status and

relationships• Serious psychiatric or antisocial disorders in 40-50%.• Substance abuse esp alcohol is very common.

TREATMENT OF ADHD

• STIMULANTS – Methylphenidate, dextroamphetamine• ALPHA-AGONISTS – Clonidine• ANTIDEPRESSANTS – SSRI’s, TCA, SNRI’s (venlafaxine,

duloxetine)• ANTIMANIAC – Lithium• MOOD STABILISERS – Carbamazepine, Divalproex

sodium,Gabapentin, Topiramate• BETA BLOCKERS – Propranolol• NON STIMULANTS – Atomoxetine, Modafinil

• Medication particularly Psychostimulants are the mainstay of therapy.

• The National Institute of Health (NIH) sponsored Multimodal Treatment study of ADHD (MTA) has shown both behaviorally and by neuropsychological testing that Stimulants work and they even work better than behavioral modification.(Biederman et al 2006)

• Approximately 75% of children respond to stimulants initially.

• Longitudinal data from MTA study has shown that effectiveness of medication may decrease over time.

• Early initiation of medical therapy into the course has a better prognosis compared to late initiation.

THANK YOU

REFERENCES

• Bradley’s Neurology in clinical practice 6th edition

• Adams & Victor’s Principles of Neurology 10th edition

• Kaplan & Sadock's Comprehensive Textbook of Psychiatry, 9th Edition

• IAP Textbook of Pediatric Neurology

autism & adhd

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