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Issues in Autism Evaluation: Differential Diagnosis, Special Populations, Accurate and Efficient Measures. Laurie McGarry Klose , Ph.D., LSSP. Objectives. Examine DSM-V diagnostic criteria for Autism Spectrum Disorders

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Issues in Autism Evaluation: Differential Diagnosis, Special Populations, Accurate and Efficient Measures

Laurie McGarryKlose, Ph.D., LSSP

  • Examine DSM-V diagnostic criteria for Autism Spectrum Disorders
  • Analyze utility of frequently used autism assessment measures in diagnostic formulation
  • Consider related neurological, developmental and emotional conditions
  • Develop strategies for differential diagnosis
dsm iv tr vs dsm v
  • 3 symptom categories
  • 6 diagnostic items endorsed
  • Specifies onset prior to age 3
  • Includes Rhett’s, Childhood Disintegrative Disorder, Asperger’s Syndrome, PDD-NOS
  • 2 categories
  • Three diagnostic items endorsed
  • Specifies early development
  • Includes parameters for designating severity
diagnostic criteria a
Diagnostic Criteria A

“Persistent deficits in social communication and social interaction across multiple contexts, as manifested by the following, currently or by history (examples are illustrative, not exhaustive”


“Deficits in social-emotional reciprocity, ranging, for example, from abnormal approach and failure of normal back and forth conversation; to reduced sharing of interests, emotions, or affect; to failure to initiate or respond to social interactions.”

  • “Deficits in nonverbal communication behaviors used for social interaction, ranging, for example, from poorly integrated verbal and nonverbal communication; to abnormalities in eye contact and body language or deficits in understanding and use of gestures; to a total lack of facial expressions and nonverbal communication“

“Deficits in developing, maintaining, and understanding relationships, ranging, for example, from difficulties adjusting behavior to suit various social contexts; to difficulties in sharing imaginative play or in making friends; to absence of interest in peers.”

  • “Specify current severity: Severity is based on social communication impairments and restricted , repetitive patterns of behavior.”
diagnostic criteria b
Diagnostic Criteria B

“Restricted, repetitive patterns of behavior, interests, or activities, as manifested by at least two of the following, currently or by history (examples are illustrative, not exhaustive; see text)”


“Stereotyped or repetitive motor movements, use of objects, or speech (e.g. simple motor stereotypies, lining up toys or flipping objects, echolalia, idiosyncratic phrases).”

  • “Insistence on sameness, inflexible adherence to routines, or ritualized patterns of verbal or nonverbal behavior (e.g., extreme distress at small changes, difficulties with transitions, rigid thinking patterns, greeting rituals, need to take the same route or eat same food everyday).”

“Highly restricted, fixated interests that are abnormal in intensity or focus (e.g., strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests).”

  • “Hyper- or hyporeactivity to sensory input or unusual interest in senspry aspects of the environment (e.g., apparent indifference to pain/temperature, adverse response to specific sounds or textures, excessive smelling or touching of objects, visual fascination with lights or movement.”
diagnostic criteria c
Diagnostic Criteria C

“ Symptoms must be present in the early developmental period (but may not become fully manifest until social demands exceed limited capacities, or may be masked by learned strategies in later life).”

diagnostic criteria d
Diagnostic Criteria D

“Symptoms cause clinically significant impairment in social, occupational, or other important areas of current functioning.”

diagnostic criteria e
Diagnostic Criteria E

“These disturbances are not better explained by intellectual disability (intellectual developmental disorder) or global developmental delay. Intellectual disability and autism spectrum disorder frequently co-occur; to make comorbid diagnosis of autism spectrum disorder and intellectual disability, social communication should be below that expected for general developmental level.”

concerning individuals with a previous diagnosis of autism asperger s or pdd nos
Concerning Individuals with a Previous Diagnosis of Autism, Asperger’s or PDD-NOS

“Note: Individuals with a well-established DSM-IV diagnosis of autistic disorder, Asperger’s disorder, or pervasive developmental disorder not otherwise specified should be given the diagnosis of autism spectrum disorder. Individuals who have marked deficits in social communication, but whose symptoms do not otherwise meet criteria for autism spectrum disorder, should be evaluated for social (pragmatic) communication disorder.”

additional specifications to be included
Additional Specifications to be Included
  • With or without accompanying intellectual impairment
  • With or without accompanying language impairment
  • Associated with a known medical or genetic condition or environmental factor
  • Associated with another neurodevelopmental, mental, or behavioral disorder
  • With catatonia
neurodevelopmental disorders
Neurodevelopmental Disorders
  • Intellectual Disability (Intellectual Developmental Disorder)
  • Global Developmental Delay
  • Unspecified Intellectual Disability (Intellectual Developmental Disorder)
  • Language Disorder
  • Speech Sound Disorder
  • Childhood-Onset Fluency Disorder (Stuttering)
neurodevelopmental disorders cont
Neurodevelopmental Disorders, Cont.
  • Social (Pragmatic) Communication Disorder
  • Unspecified Communication Disorder
  • Autism Spectrum Disorder
  • Attention-Deficit/Hyperactivity Disorder- Combined presentation, Predominantly inattentive presentation, Predominantly hyperactive/impulsive presentation
  • Unspecified Attention-Deficit/Hyperactivity Disorder
neurodevelopmental disorders cont1
Neurodevelopmental Disorders, Cont.
  • Specific Learning Disorder- With impairment in reading, With impairment in written expression, With impairment in mathematics
  • Developmental Coordination Disorder
  • Stereotypic Movement Disorder- With/out self-injurious behavior
  • Tourette’s Disorder
  • Persistent (Chronic) Motor or Vocal Tic Disorder
neurodevelopmental disorders cont2
Neurodevelopmental Disorders, Cont.
  • Other Specified Tic Disorder
  • Unspecified Tic Disorder
  • Other Specified Neurodevelopmental Disorder
  • Unspecified Neurodevelopmental Disorder
asd and id
ASD and ID

Differential diagnosis considerations:

  • Delays in social communication must be more severe than would be expected for the developmental level.


Verbal/nonverbal ability tests, Social Responsiveness Scale-2, Social Communication Questionnaire, ADI-R

asd and social pragmatic communication disorder
ASD and Social (Pragmatic) Communication Disorder
  • Impairments in social communication without the presence of repetitive, restricted or stereotyped behaviors may meet the criteria for Social Communication Disorder
  • When those stereotyped behaviors are present, the diagnosis of ASD supersedes Social Communication Disorder


ADI-R, ADOS-2, SRS2, SCQ, interview, observation

asd and adhd
  • Abnormalities of attention- either overly focused or apparent lack of focus- and hyperactivity are common features in persons with ASD.
  • ADHD diagnosis should be made when the level of attention difficulties or hyperactivity exceed those that would be seen in individuals with similar developmental levels and similar severity levels of ASD
asd and affective disorders
ASD and Affective Disorders
  • Comorbidity rates for ASD and affective or anxiety disorders is as high as 70%
  • For individuals who meet diagnostic criteria for ASD, specific symptomology should be investigated for comorbid diagnoses including changes in sleep or eating patterns, irritability, mania, including duration guidelines in diagnostic criteria
asd and anxiety disorders
ASD and Anxiety Disorders
  • Comorbidity up to 70%
  • When diagnostic criteria for ASD are met, attention is given to specific criteria for anxiety disorders that are distinct from ASD criteria including significant distress when separating from caregivers, excessive worry about safety of caregivers, school refusal, selective mutism, fear of peer rejection
  • Indications of anxiety not consistent with ASD- social impairments do not persist with familiar persons, age appropriate social capacity, but not utilized effectively
asd and ocd
  • Repetitive behavior is performed in order to reduce anxiety; intrusive recurrent thoughts inhibit functioning
  • If social communication deficits are present, then ASD may more appropriately account for the repetitive behavior; if not, OCD is more appropriate
reactive attachment disorder and asd
Reactive Attachment Disorder and ASD
  • Diagnostic criteria include specific event prior to onset of symptoms including inadequate or inconsistent opportunities to form attachments with caregivers
  • Reactive Attachment Disorder does not include the restrictive interests, unusual sensory reactions, repetitive (but not stereotyped) behavior.
  • Both disorders may include stereotyped behaviors such as rocking or flapping and impaired social reciprocity.
asd and odd
  • ODD includes an element of vindictiveness
  • ODD includes an awareness that behavior is annoying or disruptive to others
  • ODD includes a pervasive sense of anger or resentfulness and emotional dysregulation
  • With ASD, the noncompliant behavior results in lack of understanding the behavioral expectations for social situations
asd and intermittent explosive disorder
ASD and Intermittent Explosive Disorder
  • Aggression with physical damage or injury: 3 incidents in last 12 months; Aggressive episodes without physical damage or injury: 2X per week for 3 months.
  • No precursors identifiable and not used for manipulation
  • Magnitude exceeds that expected with ASD
asd and conduct disorder
ASD and Conduct Disorder
  • Conduct disorder involves the purposeful violation of social rules or violation of the rights of others
  • Antisocial behavior is proactive, predatory and purposeful
  • ASD related rule breaking behavior results from not understanding social rules or not possessing the skills to negotiate social rules
asd and schizoid personality disorder
ASD and Schizoid Personality Disorder
  • Flat affect and restricted range of emotions contribute to lack of social interactions
  • No interest in social relationships- a rejection rather than a lack of understanding or need for social interactions
  • Includes a distinct lack of pleasure in few, if any, activities
  • Very similar outward presentation between mild ASD and Schizoid- repetitive behavior and restricted interests are key differentila diagnosis features