Autism physical examination

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1];Associate Editor(s)-in-Chief: Akshun Kalia M.B.B.S.[2]

Overview

Physical examination of patients with autism is usually remarkable for repetitive behavior, dyspraxia, abnormal gait, and abnormality of motor functions. The signs of autism are present since birth but initial signs are visible by the age of 6-12 months. Most of the clinical signs of autism are identified by three years of age.

Physical Examination

Clinical signs of autism are present since birth but are generally visible by three years of age. The earliest noticeable signs of autism are lack of social communication, language deficits and repetitive stereotyped behavior. However routine early screening helps in early identification of autism in infants and toddlers. Patients with autism should also undergo observational assessment studies such as Autism Diagnostic Observational Schedule (ADOS). This observational schedule involves specific social situations and the child's response in these situations is noted. ADOS help determine patient's social communication skills and behavioral skills.In addition, patients with autism should be evaluated with full physical examination, especially general appearance and neurological exam with focus on child's affect in multiple settings (home, play group or school).[1][2]

Appearance of the Patient

  • Patients with autism usually appear anxious/irritated with repetitive behavior.

Skin

Skin examination of patients with autism may show signs of injury, if the patients depicts self mutilating behavior such as self biting, lip chewing, removal of hair or body punching. The signs include:

  • Bruises
  • Contusion
  • Cuts

HEENT

  • Increased head circumference (may return to normal in adolescence)[3][4]
  • Evidence of trauma
  • Lack of eye contact
  • Extra-ocular movements may be abnormal with unable to fix gaze
  • Pupils non-reactive to light / non-reactive to accommodation / non-reactive to neither light nor accommodation
  • Ophthalmic exam may be abnormal with findings of retinal detachment
  • Delayed verbal and non-verbal communication
  • Lack of joint attention

Neck

  • Neck examination of patients with autism is usually normal.

Heart

  • Cardiovascular examination of patients with autism is usually normal.

Abdomen

Abdominal examination of patients with autism is usually normal.

Neuromuscular

  • Motor tics
  • Motor delay
  • Mental retardation (uncommon)
  • Atypical language with pronoun reversal, use of non-sense words, echolalia or stereotyped phrases[5]
  • Aprosody
  • Patient is usually oriented to persons, place, and time

Extremities

Extremities examination of patients with autism may show stereotypies and hyperkinesia such as:

  • Hand flapping with a flaccid wrist; it is generally seen when the child is excited.
  • Other movements include bouncing up and down or rotating around an imaginary vertical axis.
  • Abnormal palmar crease.
  • Unusual posture

References

  1. Johnson CP, Myers SM (November 2007). "Identification and evaluation of children with autism spectrum disorders". Pediatrics. 120 (5): 1183–215. doi:10.1542/peds.2007-2361. PMID 17967920.
  2. Lam KS, Aman MG (May 2007). "The Repetitive Behavior Scale-Revised: independent validation in individuals with autism spectrum disorders". J Autism Dev Disord. 37 (5): 855–66. doi:10.1007/s10803-006-0213-z. PMID 17048092.
  3. Courchesne E, Carper R, Akshoomoff N (July 2003). "Evidence of brain overgrowth in the first year of life in autism". JAMA. 290 (3): 337–44. doi:10.1001/jama.290.3.337. PMID 12865374.
  4. Aylward EH, Minshew NJ, Field K, Sparks BF, Singh N (July 2002). "Effects of age on brain volume and head circumference in autism". Neurology. 59 (2): 175–83. PMID 12136053.
  5. Constantino JN, Zhang Y, Frazier T, Abbacchi AM, Law P (November 2010). "Sibling recurrence and the genetic epidemiology of autism". Am J Psychiatry. 167 (11): 1349–56. doi:10.1176/appi.ajp.2010.09101470. PMC 2970737. PMID 20889652.

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