Autism physical examination
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1];Associate Editor(s)-in-Chief:
Physical Examination
Several diagnostic instruments are available. Two are commonly used in autism research: the Autism Diagnostic Interview-Revised (ADI-R) is a semistructured parent interview, and the Autism Diagnostic Observation Schedule (ADOS) uses observation and interaction with the child. The Childhood Autism Rating Scale (CARS) is used widely in clinical environments to assess severity of autism based on observation of children.
Autism Diagnostic Observation Schedule
The Autism Diagnostic Observation Schedule (ADOS) is a standardized protocol created in 1989 for assessing social and communicative behavior associated with autism. The protocol consists of a series of structured and semi-structured tasks that involve social interaction between the examiner and examinee. The examiner observes the subject's behavior and assigns identified segments to predetermined observational categories. Categorized observations are subsequently combined to produce numerical scores. Research-determined cut-offs identify the likely presence of autism or related autism spectrum disorders, allowing a standardized assessment of autistic symptoms. The ADI-R, a companion instrument, is a structured interview conducted with the parents of the referred interview and covers the full developmental history of the referred individual.
The ADOS cannot be used for formal diagnosis with individuals who are blind or deaf or who have other serious sensory or motor disorders such as cerebral palsy or muscular dystrophy.
Overview
Patients with [disease name] usually appear [general appearance]. Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3].
OR
Common physical examination findings of [disease name] include [finding 1], [finding 2], and [finding 3].
OR
The presence of [finding(s)] on physical examination is diagnostic of [disease name].
OR
The presence of [finding(s)] on physical examination is highly suggestive of [disease name].
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]
- Physical examination of patients with autism is usually remarkable for repetitive behavior, dyspraxia, abnormal gait, and abnormality of motor functions.
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]
- 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
- 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
- ↑ 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.
- ↑ 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.
- ↑ 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.