Autism physical examination

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• Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

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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

• Physical examination of patients with autism is usually remarkable for repetitive behavior, dyspraxia, abnormal gait, and abnormality of motor functions.
• 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).
• 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.

Appearance of the Patient

• Patients with [disease name] usually appear [general appearance].

Vital Signs

• High-grade / low-grade fever
• Hypothermia / hyperthermia may be present
• Tachycardia with regular pulse or (ir)regularly irregular pulse
• Bradycardia with regular pulse or (ir)regularly irregular pulse
• Tachypnea / bradypnea
• Kussmal respirations may be present in _____ (advanced disease state)
• Weak/bounding pulse / pulsus alternans / paradoxical pulse / asymmetric pulse
• High/low blood pressure with normal pulse pressure / wide pulse pressure / narrow pulse pressure

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 ti normal in adolescence)
• Evidence of trauma
• Icteric sclera
• Nystagmus
• 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
• Hearing acuity may be reduced
• Weber test may be abnormal (Note: A positive Weber test is considered a normal finding / A negative Weber test is considered an abnormal finding. To avoid confusion, you may write "abnormal Weber test".)
• Rinne test may be positive (Note: A positive Rinne test is considered a normal finding / A negative Rinne test is considered an abnormal finding. To avoid confusion, you may write "abnormal Rinne test".)
• Exudate from the ear canal
• Tenderness upon palpation of the ear pinnae/tragus (anterior to ear canal)
• Inflamed nares / congested nares
• Purulent exudate from the nares
• Facial tenderness
• Erythematous throat with/without tonsillar swelling, exudates, and/or petechiae

Neck

• Neck examination of patients with [disease name] is usually normal.

OR

• Jugular venous distension
• Carotid bruits may be auscultated unilaterally/bilaterally using the bell/diaphragm of the otoscope
• Lymphadenopathy (describe location, size, tenderness, mobility, and symmetry)
• Thyromegaly / thyroid nodules
• Hepatojugular reflux

Lungs

• Pulmonary examination of patients with [disease name] is usually normal.

OR

• Asymmetric chest expansion / Decreased chest expansion
• Lungs are hypo/hyperresonant
• Fine/coarse crackles upon auscultation of the lung bases/apices unilaterally/bilaterally
• Rhonchi
• Vesicular breath sounds / Distant breath sounds
• Expiratory/inspiratory wheezing with normal / delayed expiratory phase
• Wheezing may be present
• Egophony present/absent
• Bronchophony present/absent
• Normal/reduced tactile fremitus

Heart

• Cardiovascular examination of patients with [disease name] is usually normal.

OR

• Chest tenderness upon palpation
• PMI within 2 cm of the sternum (PMI) / Displaced point of maximal impulse (PMI) suggestive of ____
• Heave / thrill
• Friction rub
• S1
• S2
• S3
• S4
• Gallops
• A high/low grade early/late systolic murmur / diastolic murmur best heard at the base/apex/(specific valve region) may be heard using the bell/diaphgram of the otoscope

Abdomen

Abdominal examination of patients with [disease name] is usually normal.

OR

• Abdominal distention
• Abdominal tenderness in the right/left upper/lower abdominal quadrant
• Rebound tenderness (positive Blumberg sign)
• A palpable abdominal mass in the right/left upper/lower abdominal quadrant
• Guarding may be present
• Hepatomegaly / splenomegaly / hepatosplenomegaly
• Additional findings, such as obturator test, psoas test, McBurney point test, Murphy test

Back

• Back examination of patients with [disease name] is usually normal.

OR

• Point tenderness over __ vertebrae (e.g. L3-L4)
• Sacral edema
• Costovertebral angle tenderness bilaterally/unilaterally
• Buffalo hump

Genitourinary

• Genitourinary examination of patients with [disease name] is usually normal.

OR

• A pelvic/adnexal mass may be palpated
• Inflamed mucosa
• Clear/(color), foul-smelling/odorless penile/vaginal discharge

Neuromuscular

• Neuromuscular examination of patients with [disease name] is usually normal.

• Motor tics
• Mental retardation
• Atypical language with pronoun reversal, use of non-sense words, echolalia or stereotyped phrases
• Aprosody

• Patient is usually oriented to persons, place, and time
• Altered mental status
• Glasgow coma scale is ___ / 15
• Clonus may be present
• Hyperreflexia / hyporeflexia / areflexia
• Positive (abnormal) Babinski / plantar reflex unilaterally/bilaterally
• Muscle rigidity
• Proximal/distal muscle weakness unilaterally/bilaterally
• ____ (finding) suggestive of cranial nerve ___ (roman numerical) deficit (e.g. Dilated pupils suggestive of CN III deficit)
• Unilateral/bilateral upper/lower extremity weakness
• Unilateral/bilateral sensory loss in the upper/lower extremity
• Positive straight leg raise test
• Abnormal gait (describe gait: e.g. ataxic (cerebellar) gait / steppage gait / waddling gait / choeiform gait / Parkinsonian gait / sensory gait)
• Positive/negative Trendelenburg sign
• Unilateral/bilateral tremor (describe tremor, e.g. at rest, pill-rolling)
• Normal finger-to-nose test / Dysmetria
• Absent/present dysdiadochokinesia (palm tapping test)

Extremities

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

• Hand flapping with a flaccid wrist; iIt 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.

OR

• Clubbing
• Cyanosis
• Pitting/non-pitting edema of the upper/lower extremities
• Muscle atrophy
• Fasciculations in the upper/lower extremity