Autism Spectrum Disorder

Autism Spectrum
Disorder, A Clinical
Approach
Bushra Admani, MD
Dow University of Health Sciences
Newark Beth Israel Medical Centre
Definition & Background
• ASD is a spectrum of neurodevelopmental disorders characterized by early-onset
imapirments in social communication, as well as restricted, repititive
interests and behaviours.
• Prevalence among ages 3-17 yrs in US1:
• Boys: 3.6%
• Girls: 1.25%
• 4x higher in boys than girls among 8 yr old in US2
• Lord et al in 2018 reported 74%-93% risk of ASD is heritable. 3

• ASD ocurrs in 7-20% of subsequent children after one child is diagnosed with
ASD. 3
Early Indicators in Development:
• Lack of attention to social scenes/human faces by 6

months
• Limited infant-parent interaction (joint attention,
parallel play, attentiveness) by 12 months
• Lack of eye contact
• Delayed Verbal + Nonverbal Communication
• Motor Delays
• Stereotypical/restrictive behaviours
• Problems with emotional regulation
When in the exam room, Observe:
• Deficits in joint attention (shared focus on an object)
• Deficits in reciprocal affective behaviour
• Decreased response to own name
• Lack of imitation
• Atypical Visuomotor exploration
• Inflexibility in disengaging visual attention
• Extreme variation in temparament
Family hx:
• Hx of ASD or other developmental disorders
• Speech or language difficulties
• Behavioral or psychiatric disorders
• Intellectual or learning disabilities
• Seizures or developmental neurologic problems
• Early childhood death or metabolic disorders
• Genetic conditions associated with ASD
• problems that may impact child's behavior (such as divorce, family stress,
or parental separation)
Obstetric Risk Factors1
• Meconium Aspiration
• Birth Injury
• Anemia in Infant/Rh incompatibility
• Interpregnancy intervals < 12 months or > 60 momths
• Maternal epidural analgesia
• GDM dx <26 weeks, HTN, obesity
• Low birth weight and preterm infants
• SSRI & Na Valproate use during pregnancy
Risk Factors
• Advanced Parental Age: 1
• Maternal age >40 yrs
• Paternal Age > 50 yrs
• NO INCREASED RISK WITH VACCINATIONS! (Vaccine

2014; Meta-analysis) 2
Physical Exam:
• Assess for dysmorphic features
• Growth curves including head size
• Palpate for organomegaly
• Skin exam for neurofibromatosis/café au lait spots/ ash
leaf spots
• Assess gait and motor cordination
• Genetic Disorders including but not limited to:
• Fragile X (males)
• Rett Syndrome (females)
• Down Syndrome
• Angelman Syndrome/Prader-Willi Syndrome
• Tuberous Sclerosis
• Neurofibromatosis
• Phenylketonuria
• Duchenne Muscular Dystrophy
Severity Level for ASD Social Communication Restricted Interests & Repetitive Behaviors
Severe deficits in verbal and nonverbal social Preoccupations, fixated rituals and/or
communication skills cause severe repetitive behaviors markedly interfere with
Level 3 impairments in functioning; very limited functioning in all spheres. Marked distress
‘Requiring very substantial support’ initiation of social interactions and minimal when rituals or routines are interrupted; very
response to social overtures from others. difficult to redirect from fixated interest or
returns to it quickly.
Marked deficits in verbal and nonverbal RRBs and/or preoccupations or fixated

social communication skills; social interests appear frequently enough to be
Level 2 impairments apparent even with supports in obvious to the casual observer and interfere
‘Requiring substantial support’ place; limited initiation of social interactions with functioning in a variety of contexts.
and reduced or abnormal response to social Distress or frustration is apparent when RRB’s
overtures from others. are interrupted; difficult to redirect from
fixated interest.
Without supports in place, deficits in social

communication cause noticeable Rituals and repetitive behaviors (RRB’s) cause
Level 1 impairments. Has difficulty initiating social significant interference with functioning in
‘Requiring support’ interactions and demonstrates clear examples one or more contexts. Resists attempts by
of atypical or unsuccessful responses to social others to interrupt RRB’s or to be redirected
overtures of others. May appear to have from fixated interest.
decreased interest in social interactions.
DDx
• Childhood Disintegrative Disorders (Heller
syndrome) : regression of social, language, motor skills
• Asperger’s Syndrome: Autism with no deficits in
verbal/non-verbal communication
• Language Disorders
• Impaired Hearing
• Intellectual Disability
Workup
• AAP recommends M-CHAT scoring in all children aged 18-
24 months
• Venous capillary lead screening.
• Metabolic panel
• Genetic testing
Qs. 2 (deaf), Qs. 5 (unusual finger
movements), Qs. 12 (upset by
loud noises) : REVERSE.
• MRI if:
• Developmental regression
• Epilepsy
• Global developmental delay
• Abn neurologic exam
• EEG if:
• Suspected epileptic seizures
• Paroxysmal events of uncertain nature
• Developmental regression
• Acquired aphasia
Associated Conditions
• Developmental Conditions:
• Intellectual disability -45%
• Language disoreders
• ADHD - 30-40%
• Tic disorders, including Tourette syndrome -14-38%
• Motor: motor delays, hypotonia, gait apraxia, problems with balance and coordination
• Medical Conditions:
• Epilepsy 8-30%
• Sleep disorders - 50-80%
• Immune dysregulation - <40%
• GI : chronic constipation/diarrhea, GERD etc
• Psychiatric Conditions:
• Anxiety Disorders (Social Anxiety, GAD, OCD) -42-56%
• Depression
• Substance Use Disorders - <16%
• Oppositional Defiant Disorders -16-28%
• Eating Disorders 4-5%
• Personality Disorders (esp in high-functioning adults)
• Behavioural Disorders
• Self injurious Behaviours – 85%
• PICA - 36%
• Sucidial ideation/attempts – 11-14%
Tx
• Applied Behaviour Analysis (ABA) therapy
• Early intensive behavioural intervention (EIBI)
• 20-40 hrs/week

Autism Spectrum Disorder

Uploaded by

Copyright:

Available Formats

Autism Spectrum Disorder

Uploaded by

Document Information

Copyright

Available Formats

Share this document

Share or Embed Document

Sharing Options

Did you find this document useful?

Is this content inappropriate?

Copyright:

Available Formats

Autism Spectrum Disorder

Uploaded by

Copyright:

Available Formats

Autism Spectrum

• Lord et al in 2018 reported 74%-93% risk of ASD is heritable. 3

• Lack of attention to social scenes/human faces by 6

• NO INCREASED RISK WITH VACCINATIONS! (Vaccine

Marked deficits in verbal and nonverbal RRBs and/or preoccupations or fixated

Without supports in place, deficits in social

You might also like