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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 [[Guideline (medical)|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 [[Autism Diagnostic Interview-Revised|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 [[Blindness|blind]] or [[Deafness|deaf]] or who have other serious sensory or motor disorders such as [[cerebral palsy]] or [[muscular dystrophy]].


{{CMG}};{{AE}}{{Akshun}}{{HK}}


==Overview==
==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].
Physical examination of patients with autism is usually remarkable for repetitive [[behavior]], [[dyspraxia]], [[Gait abnormality|abnormal gait]], and abnormality of [[Motor control|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.


OR
==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 [[Social communication disorder|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).<ref name="pmid17967920">{{cite journal |vauthors=Johnson CP, Myers SM |title=Identification and evaluation of children with autism spectrum disorders |journal=Pediatrics |volume=120 |issue=5 |pages=1183–215 |date=November 2007 |pmid=17967920 |doi=10.1542/peds.2007-2361 |url=}}</ref><ref name="pmid17048092">{{cite journal |vauthors=Lam KS, Aman MG |title=The Repetitive Behavior Scale-Revised: independent validation in individuals with autism spectrum disorders |journal=J Autism Dev Disord |volume=37 |issue=5 |pages=855–66 |date=May 2007 |pmid=17048092 |doi=10.1007/s10803-006-0213-z |url=}}</ref>
* Physical examination of patients with autism is usually remarkable for repetitive [[behavior]], [[dyspraxia]], [[Gait abnormality|abnormal gait]], and abnormality of [[Motor control|motor functions]].


Common physical examination findings of [disease name] include [finding 1], [finding 2], and [finding 3].
===Appearance of the Patient===
*Patients with autism usually appear [[anxious]]/irritated with repetitive [[behavior]].  


OR
===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:
The presence of [finding(s)] on physical examination is diagnostic of [disease name].
* [[Bruises]]  
 
* [[Contusion]]
OR
* Cuts


The presence of [finding(s)] on physical examination is highly suggestive of [disease name].
=== Cognitive ===
 
Cognition should be assessed via the following scales:
==Physical Examination==
* Bayley Scales of Infant Development
Clinical signs of autism are generally visible by three years of age with the earliest signs being lack of social communication and language deficits.
* Mullen Scales of Early Learning
* Physical examination of patients with autism is usually remarkable for repetitive behavior, dyspraxia, abnormal gait, and abnormality of motor functions.
* Wechsler Preschool and Primary Test of Intelligence
* 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).
* Wechsler Intelligence Scale for Children
* 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.
* Stanford-Binet Intelligence Scales
*
*  
*  


===Appearance of the Patient===
=== Speech and Communication ===
*Patients with [disease name] usually appear [general appearance].
* Preschool Language Scale
* MacArthur Communicative Development Inventory


===Vital Signs===
=== Motor ===
* Peabody Developmental Motor Scales
* Gross Motor Scale


*High-grade / low-grade fever
=== Adaptive ===
*[[Hypothermia]] / hyperthermia may be present
* Vineland Adaptive Behavior Scales
*[[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===
* Sensory profile
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===
===HEENT===
* Increased head circumference (may return ti normal in adolescence)
* Increased head circumference (may return to normal in [[adolescence]])<ref name="pmid12865374">{{cite journal |vauthors=Courchesne E, Carper R, Akshoomoff N |title=Evidence of brain overgrowth in the first year of life in autism |journal=JAMA |volume=290 |issue=3 |pages=337–44 |date=July 2003 |pmid=12865374 |doi=10.1001/jama.290.3.337 |url=}}</ref><ref name="pmid12136053">{{cite journal |vauthors=Aylward EH, Minshew NJ, Field K, Sparks BF, Singh N |title=Effects of age on brain volume and head circumference in autism |journal=Neurology |volume=59 |issue=2 |pages=175–83 |date=July 2002 |pmid=12136053 |doi= |url=}}</ref>
* Evidence of trauma
* Evidence of [[trauma]]
* Icteric sclera
* Lack of eye contact
* [[Nystagmus]]
* [[Extraocular muscles|Extra-ocular]] movements may be abnormal with unable to fix  gaze  
* Extra-ocular movements may be abnormal with unable to fix  gaze
*Ophthalmic exam may be abnormal with findings of [[retinal detachment]]
*Pupils non-reactive to light / non-reactive to accommodation / non-reactive to neither light nor accommodation
*Delayed [[Verbal behavior|verbal]] and non-verbal communication
*'''Ophthalmic exam may be abnormal with findings of retinal detachment'''
*Lack of joint attention
* 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===
* Neck examination of patients with [disease name] is usually normal.
* Neck examination of patients with autism 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===
===Heart===
* Cardiovascular examination of patients with [disease name] is usually normal.
* Cardiovascular examination of patients with autism 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]]
*[[Heart sounds#First heart tone S1, the "lub"(components M1 and T1)|S1]]
*[[Heart sounds#Second heart tone S2 the "dub"(components A2 and P2)|S2]]
*[[Heart sounds#Third heart sound S3|S3]]
*[[Heart sounds#Fourth heart sound S4|S4]]
*[[Heart sounds#Summation Gallop|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===
===Abdomen===
Abdominal examination of patients with [disease name] is usually normal.
Abdominal examination of patients with autism 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===
* Neuromuscular examination of patients with [disease name] is usually normal.
* [[Tic|Motor tics]]
 
* Motor delay
* '''Motor tics'''
* [[Mental retardation]] (uncommon)
* '''Mental retardation'''
* Atypical language with [[pronoun reversal]], use of non-sense words, [[echolalia]] or stereotyped phrases<ref name="pmid20889652">{{cite journal |vauthors=Constantino JN, Zhang Y, Frazier T, Abbacchi AM, Law P |title=Sibling recurrence and the genetic epidemiology of autism |journal=Am J Psychiatry |volume=167 |issue=11 |pages=1349–56 |date=November 2010 |pmid=20889652 |pmc=2970737 |doi=10.1176/appi.ajp.2010.09101470 |url=}}</ref>
* Atypical language with pronoun reversal, use of non-sense words, echolalia or stereotyped phrases
* [[Aprosody]]
* 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===
Extremities examination of patients with autism may show hyperkinesia such as:
Extremities examination of patients with autism may show stereotypies and [[hyperkinesia]] such as:
* Hand flapping with a flaccid wrist; iIt is generally seen when the child is excited.
* 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.
* Other movements include bouncing up and down or rotating around an imaginary vertical axis.
* Abnormal palmar crease.
* Abnormal palmar crease
 
* Unusual [[posture]]
OR
*[[Clubbing]]
*[[Cyanosis]]
*Pitting/non-pitting [[edema]] of the upper/lower extremities
*Muscle atrophy
*Fasciculations in the upper/lower extremity


==References==
==References==

Latest revision as of 14:38, 2 April 2018

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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]Syed Hassan A. Kazmi BSc, MD [3]

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:

Cognitive

Cognition should be assessed via the following scales:

  • Bayley Scales of Infant Development
  • Mullen Scales of Early Learning
  • Wechsler Preschool and Primary Test of Intelligence
  • Wechsler Intelligence Scale for Children
  • Stanford-Binet Intelligence Scales

Speech and Communication

  • Preschool Language Scale
  • MacArthur Communicative Development Inventory

Motor

  • Peabody Developmental Motor Scales
  • Gross Motor Scale

Adaptive

  • Vineland Adaptive Behavior Scales
  • Sensory profile

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
  • 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

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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