Diagnosis

Formal diagnosis of autism is performed by medical specialists.

The diagnostic criteria for Autism Spectrum Disorders are set out in the Diagnostic and Statistic Manual Forth Edition (DSMIV).

• Diagnostic Criteria for 299.00 Autistic Disorder

  • A. Six or more items from (1), (2), and (3), with at least two from (1), and one each from (2) and (3):

    1. qualitative impairment in social interaction, as manifested by at least two of the following:
       1. marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures to regulate social interaction
       2. failure to develop peer relationships appropriate to developmental level
       3. a lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (e.g., by a lack of showing, bringing, or pointing out objects of interest)
       4. lack of social or emotional reciprocity
    2. qualitative impairments in communication as manifested by at least one of the following:
       1. delay in, or total lack of, the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime)
       2. in individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others
       3. stereotyped and repetitive use of language or idiosyncratic language
       4. lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level
    3. restricted repetitive and stereotyped patterns of behavior, interests, and activities, as manifested by at least one of the following:
       1. encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus
       2. apparently inflexible adherence to specific, nonfunctional routines or rituals
       3. stereotyped and repetitive motor manners (e.g., hand or finger flapping or twisting, or complex whole-body movements)
       4. persistent preoccupation with parts of objects

    B. Delays or abnormal functioning in at least one of the following areas, with onset prior to age 3 years: (1) social interaction, (2) language as used in social communication, or (3) symbolic or imaginative play.

    C. The disturbance is not better accounted for by Rett's Disorder or Childhood Disintegrative Disorder.

• Diagnostic Criteria for 299.80 Asperger's Disorder
  • 1. Qualitative impairment in social interaction, as manifested by at least two of the following:
       1. marked impairment in the use of multiple nonverbal behaviors such as eye-to eye gaze, facial expression, body postures, and gestures to regulate social interaction
       2. failure to develop peer relationships appropriate to developmental level
       3. a lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (e.g., by a lack of showing, bringing, or pointing out objects of interest to other people)
       4. lack of social or emotional reciprocity
    2. Restricted repetitive and stereotyped patterns of behavior, interests and activities, as manifested by at least one of the following:
       1. encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity of focus
       2. apparently inflexible adherence to specific, nonfunctional routines or rituals
       3. stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements)
       4. persistent preoccupation with parts of objects
    3. The disturbance causes clinically significant impairment in social, occupational, or other important areas of functioning.
    4. There is no clinically significant general delay in language (e.g., single words used by age 2 years, communicative phrases used by age 3 years).
    5. There is no clinically significant delay in cognitive development or in the development of age-appropriate self-help skills, adaptive behavior (other than in social interaction), and curiosity about the environment in childhood.
    6. Criteria are not met for another specific Pervasive Developmental Disorder or Schizophrenia.
• 299.80 Pervasive Developmental Disorder Not Otherwise Specified (Including Atypical Autism)

  • This category should be used when there is a severe and pervasive impairment in the development of reciprocal social interaction associated with impairment in either verbal or nonverbal communication skills or with the presence of stereotyped behavior, interests, and activities, but the criteria are not met for a specific Pervasive Developmental Disorder, Schizophrenia, Schizotypal Personality Disorder, or Avoidant Personality Disorder. For example, this category includes "atypical autism" - presentations that do not meet the criteria for Autistic Disorder because of late age at onset, atypical symptomatology, or subthreshold symptomatology, or all of these.

• Diagnostic Criteria for 299.80 Rett's Disorder
  • 1. All of the following:
       1. apparently normal prenatal and perinatal development
       2. apparently normal psychomotor development through the first 5 months after birth
       3. normal head circumference at birth
    2. Onset of all of the following after the period of normal development:
       1. deceleration of head growth between ages 5 and 48 months
       2. loss of previously acquired purposeful hand skills between 5 and 30 months with the subsequent development of stereotyped hand movements (e.g., hand-wringing or hand washing)
       3. loss of social engagement early in the course ( although often social interaction develops later)
       4. appearance of poorly coordinated gait or trunk movements
       5. severely impaired expressive and receptive language development with severe psychomotor retardation
• Diagnostic Criteria for 299.10 Childhood Disintegrative Disorder
  • 1. Apparently normal development for at least the first 2 years after birth as manifested by the presence of age-appropriate verbal and nonverbal communication, social relationships, play, and adaptive behavior.
    2. Clinically significant loss of previously acquired skills (before age 10 years) in at least two of the following areas:
       1. expressive or receptive language
       2. social skills or adaptive behavior
       3. bowel or bladder control
       4. play
       5. motor skills
    3. Abnormalities of functioning in at least two of the following areas:
       1. qualitative impairment in social interaction (e.g., impairment in nonverbal behaviors, failure to develop peer relationships, lack of social or emotional reciprocity)
       2. qualitative impairments in communication (e.g., delay or lack of spoken language, inability to initiate or sustain a conversation, stereotyped and repetitive use of language, lack of varied make-believe play)
       3. restricted, repetitive, and stereotyped patterns of behavior, interest, and activities, including motor stereotypes and mannerisms
    4. The disturbance is not better accounted for by another specific Pervasive Developmental Disorder or by Schizophrenia

    There are five possible sub categories of Autism Spectrum Disorder:

    1. Autistic Disorder
    2. Asperger's Disorder
    3. Pervasive Developmental Disorder Not Otherwise Specified (or Atypical Autism)
    4. Childhood Disintegrative Disorder
    5. Rhett's Disorder

    Autism is a 'behavioural' diagnosis, that means that there is no simple blood test to determine if a child has autism. Clinicians are looking for a collection of 'skill deficits' which are things that a typically developing individual would do but this child isn't doing for example language delay, immature play relative to peers. Clinicans are also looking for behavioural excesses, which are things a child might do that typically developing peers wouldn't do, for example protracted tantrums, flapping, lining up objects. For a full list of warning signs click here (Link to blue and orange, EARLY SIGNS TABLE on page 5)

    Children may rarely be referred for an EEG or MRI in order to rule out other medical conditions, however to date there is no medical test to diagnose autism. Breakthroughs in medical science are looking closely at DNA sequencing to determine if genetics play a part in autism. To read more about this click here (Link to PDF document 'Consensus Statement: Chromosomal Microarray')

• Misdiagnosis

  • Sometimes parents wonder if a child may have been misdiagnosed with autism, especially as so much of the diagnostic process involves answering questions about a child's behaviour and development. There are some disorders which resemble ASDs but are not ASDs taken from the The Autism Sourcebook (2005) by Karen Siff Exkorn:

    • Aphasia
    • Fragile X Syndrome
    • Landau-Kleffner Sydnrome
    • Mental Retardation
    • Non Verbal Learning Disorder
    • Obsessive Compulsive Disorder
    • Schizophrenia
    • Reactive Attachment Disorder
    • Speech and language disorders
    • Sensory impairments
    • Social phobia
• Reactions to diagnosis

  • Pursuing an explanation for a child's developmental delay can be a time consuming, frustrating and expensive exercise. A parent's reaction to finally receiving a diagnosis of autism can range from shock and outrage to relief that they finally have an answer. It most certainly includes a feeling of grief.

    The Raising Children Network has video footage of parents speaking about their experience in receiving a diagnosis of autism for their child. Go to: http://raisingchildren.net.au/special_needs/special_needs_videos.html

    Parents can receive subsidised support and counselling through various state funded carer bodies. For example Carers NSW http://www.carersnsw.asn.au/

    It is important that parents and extended family seek support at this time so that they are best able to embark on a path of early intervention which has been shown to create the best possible outcome for a child with autism.