How Did they Miss That? Previously Undiagnosed Asperger’s Syndrome in Adolescents and Adults

1. How Did they Miss That? Previously Undiagnosed Asperger’s Syndrome in Adolescents and Adults Katherine A. Loveland, Ph.D. Professor, Psychiatry & Behavioral Sciences Director, Center for Human Development Research and the C.L.A.S.S. Clinic

2. Heterogeneity in Autism Spectrum Disorders • Autism spectrum disorders including Asperger’s are characterized by social-cognitive differences affecting many areas of functioning. • They are highly heterogeneous with a complex genetic and neural basis. • Not surprisingly, they have a wide range of presentations

3. There Is Phenotypic Variation in the Autism Spectrum in….. • Intellectual level • Verbal ability • Social skills • Repetitive/stereotyped behaviors and interests • Presence, type and degree of sensory differences • Presence and degree of motor differences • Developmental course • Presence of other medical issues including seizures, gastrointestinal problems, etc. • Severity and type of co-morbid psychiatric conditions including attention deficit/hyperactivity symptoms, anxiety disorders, aggressive behaviors, etc.

4. Asperger Syndrome (AS) • Often described as the “highest end of the autism spectrum” • Popularly applied to anyone who has symptoms similar to autism spectrum but is bright and verbal • Has become the topic of many popular articles, TV programs, movies, etc

5. AS: A Historical Perspective • Hans Asperger (1944): • Described 4 bright boys with high language skills but social skills deficits and odd behavior • Report received little attention at the time • Lorna Wing’s (1981) review of Asperger’s work brought it to the attention of the field • Later attempts to distinguish AS from Autism were held back by confusion about criteria, terms • Not until DSM-IV did it appear in the DSM

6. Asperger Syndrome Qualitative impairment in social interaction No clinically significant general delay in language Restricted, repetitive and stereotyped patterns of behavior, interests and activities Autistic Disorder Qualitative impairment in social interaction Qualitative impairments in communication Restricted, repetitive and stereotyped patterns of behavior, interests, activities DSM-IV Criteria: Comparison of ASandAD

7. Asperger Syndrome Early onset not required, but impairment in social, occupational or other areas No clinically significant delay in cognitive or adaptive behavior Criteria not met for another specific PDD or Schizophrenia Disturbance causes clinically significant impairment in social, occupational, or other important areas of functioning Autistic Disorder Delays in social interaction, communication, or play before age 3 Developmental delays and/or intellectual disability may be present Not better accounted for by Rett’s or Childhood Disintegrative Disorder (Not specified) DSM-IV Criteria: Comparison of ASandAD

8. Frequent characteristics of the child with AS Communication • Speaks and understands language well, but uses gesture, eye contact and other nonverbal communication less well • Higher verbal IQ than nonverbal • May be a precocious reader • May sound “pedantic” because of using technical words in everyday conversation, or because of stilted, somewhat formulaic speech • May say things that seem odd or do not make sense to others, or that are rude, without meaning to

9. Frequent characteristics of the child with AS Social behavior • Sociable, but behaves inappropriately for age and situation • Seems socially immature for his or her age; may have little grasp of peer norms for interests and behavior • Plays alone by preference and plays differently than peers • May experience frequent peer rejection, bullying • May describe children as “friends” who are not really friends • May want to play, be friends with peers but not know how

10. Frequent characteristics of the child with AS Cognition • Tends to be rigid and concrete in thinking: has difficulty finding new strategies to solve problems and sees issues in dichotomous (yes/no, good/bad) terms • Has difficulty with changes, transitions or choosing among alternatives • Typically has difficulty with attention, concentration and organization, EXCEPT when dealing with topics of special interest

11. Frequent characteristics of the child with AS Emotion • Difficulty in self–regulating emotion: prone to meltdowns/shutdowns/tantrums/panic • Typically anxious, may have fears and phobias • Has emotions but does not always express them in typical ways • May have emotional reactions that seem unusual or out of place Other characteristics • May have difficulty and delays in gross motor skills • May have sensory differences • Has special interest areas that are unusually intense • May have repetitive behaviors or rituals

12. Diagnosis of AS: Usually in Childhood • Often the initial complaint involves behavior problems such as tantrums, hyperactivity or problems with peers • Children with AS often come for diagnosis at later ages than those with Autistic Disorder, sometimes much later • Sometimes evaluation is suggested by the child’s school • Why should these children be missed?

13. How DID They Miss That?? • Diagnostic overshadowing? Child has clear characteristics of another disorder and problems are attributed to that. [“He has ADHD.”] • Developmental milestones were met. Child walked and talked on time, seems bright. [“He’s developing on schedule; he will just grow out of it.”] • High intellectual ability allows the child to work around challenges up to a certain point, particularly in verbal domains, after which demands become too great. Symptoms are less troublesome until the child’s ability to adapt is exceeded. [“But she reads so well..”]

14. How DID They Miss That?? • Child has a clear desire to interact socially, even though social skills are poor. (Wing’s “Active But Odd” category)[“But he’s such an affectionate boy…”] • In some cases, there is a lack of certain behavioral signs such as repetitive movements. [“But he looks so normal.”] • Child is self-contained and not particularly disruptive. This often happens with girls. [“She’s just shy….”] • There is a lack of clinical expertise available in the area where the child lives. • The individual has learned to mask certain symptoms or to avoid problematic situations.

15. Typical Effects of Asperger Syndrome on Adjustment : Social • Difficulty with daily social interactions and conversations, social events, behavior at school or at work, etc.: social behavior is misunderstood by others or the person misunderstands others’ social cues • Difficulty identifying safe and unsafe situations and persons, leading to safety risks • May be perceived as rude, hostile, uncaring, unfriendly or merely eccentric, when actually has no such intent • Chronic isolation and loneliness

16. Typical Effects of Asperger Syndrome on Adjustment : Communication • Characteristic features of communication style tend to create social distance, promote misunderstanding and social rejection, and do not support achieving the individual’s goals: • Literal, concrete interpretation of what is said • Inadvertently rude or inappropriate • Unaware of or not motivated by social conventions for how to speak in varying situations • Pedantic speech style and word choice • May talk a great deal about special interests without attention to listener interest • Nonverbal communication may be attenuated or unusual

17. Typical Effects of Asperger Syndrome on Adjustment : Vocational • Often under-employed relative to ability and education or chronically unemployed because may have difficulty with specific job-related skills such as: • Dealing politely and attentively with customers/co-workers • Handling conflicts, complaints, or unexpected problems • Adjusting to changes in schedules, procedures or assignments • Supervising others • Accepting supervisor feedback without arguing or becoming upset • Planning ahead or devising new methods, solving problems • Handling tasks where explicit structure is not provided • Asking for help and knowing when they need help • Being mindful of expectations for behavior at work, such as staying on task, not wasting people’s time, professional relationships, etc.

18. Typical Effects of Asperger Syndrome on Adjustment : Emotional/Behavioral • Occasional or frequent outbursts or “meltdowns” when frustrated, angry, or highly anxious • May be impulsive; likely to have past signs of motor hyperactivity • Mood may have wide variations, easily upset; may have difficulty regaining equilibrium • Easily overwhelmed by situations and events that provoke stress, e.g., excessive cognitive load, unfamiliar people or settings, unexpected changes, etc.

19. Typical Effects of Asperger Syndrome on Adjustment : Cognitive and Motivational • Excessive focus on areas of special interest • Cognitive rigidity; may insist on being right, correct, precise and engage in lengthy arguments about it • Conceptual concreteness; e.g., difficulty with metaphorical expressions and abstractions • Frequently has signs of difficulties in concentration and attention • Difficulty thinking of new solutions to problems • Difficulty changing tasks as needed or multitasking • Easily overwhelmed by too many choices • May focus on details where big picture is needed or become fixated on small discrepancies or unimportant details

20. The Development of Psychopathology in a Person with AS: The “Snowball Effect” • ASD/Asperger’s: Not a disease but a different developmental pathway • The individual is a moving target: manifestations of AS change as the person grows, develops, experiences, learns, and behaves • Left without treatment/intervention, the developmental pathway of the person with AS may increasingly diverge from the typical over time • One consequence is the high risk for additional psychiatric disorders

21. The developmental “snowball” rolls downhill over time……

24. …….gathering speed and mass (loadings for psychopathology and atypicality). “Outcome”?

25. Genetic Predispositions Environmental Influences Child’s Own Behavior Birth Maturation Time The developmental pathway of an individual child reflects not only genetic endowment and environmental effects, but also the interactions among these and the child’s own activity over time. “Outcome”

26. Genetic Predispositions Environmental Influences Protective and Supportive Conditions and Adverse Events Risks and Protective Factors Behavior Birth Adaptive and Maladaptive Behaviors Maturation and Maturational Vulnerabilities Time Influences on development are both positive and adverse. Likewise, the individual’s behaviors over time are both adaptive and maladaptive. “Outcome”

27. Genetic Risks and Protective Factors Adverse Events and Negative Feedback Birth Maladaptive Behaviors STRESS Protective and Supportive Conditions Inappropriate social behavior, emotional outbursts, etc. Anxiety, Mood Disorders Maturation and Maturational Vulnerabilities Time “Outcome” The development of anxiety and mood disorders is facilitated by a cycle in which the person’s own behaviors in a stressful, confusing environment evoke frequent negative feedback, leading to more stress, more maladaptive behaviors, etc.

28. Genetic Risks and Protective Factors Adverse Events and Negative Feedback Birth Maladaptive Behaviors STRESS Protective and Supportive Conditions Inappropriate social behavior, emotional outbursts, etc. Anxiety, Mood Disorders Maturation and Maturational Vulnerabilities Time “Outcome” Characteristics such as impulsivity, difficulty self-regulating emotion, and cognitive rigidity make it harder for the individual with AS to adapt to the environment and to recover from adverse events and negative feedback, thus increasing risk for psychopathology.

29. Repeated Episodes of Psychopathology Adverse Events and Negative Feedback Genetic Risks and Protective Factors Birth Maladaptive Behaviors STRESS Protective and Supportive Conditions MORE Anxiety, Mood Disorders Maturation and Maturational Vulnerabilities Time “Outcome” Over time, repeated stresses and episodes of psychopathology adversely affect the developing brain, leading to still more risk .

30. The Consequences….. • Individuals with AS or HFA are at high risk for additional psychopathologies • The most common are anxiety disorders and mood disorders • Those who are not identified and treated early are at particularly high risk because their underlying developmental disorder has not been addressed • By adolescence, it is common for individuals with AS to have significant psychopathologies that are in need of treatment

31. Identifying the Previously Undiagnosed Adolescent or Adult with Asperger’s Adolescents Adults • Few friends, subject to rejection, bullying and isolation from peers • May wish for romantic relationships but have had little success • Often academically able, but may be underachieving or an inconsistent performer • May have little idea of future goals and plans, or have unrealistic plans; college or a vocation often a major concern • Few successful relationships; friends often connected with shared activities • Romantic relationships absent or characterized by conflict, poor outcome; partner may initiate the assessment for AS • May or may not be successful educationally; may have foci of success where ability is strong • Vocational adjustment poor, history of repeated job loss, bullying, underemployment relative to ability

32. Identifying the Previously Undiagnosed Adolescent or Adult with Asperger’s, continued Adolescents Adults • Insensitive to social norms, contributing to peer rejection • Socially immature, may have childish interests and world view or friends who are much younger; may be more dependent on family than expected for age • May have no friends, or be overly dependent on one friend, or only be friendly with adults and family • May have physical appearance that is unconventional due to grooming, style of dress etc. • Often not independent of family well into adulthood; may remain somewhat dependent on others for help with adult daily living tasks. • May have a partner or family member who “fronts” for them socially

33. Frequent Presenting Characteristics of the Previously Undiagnosed Adolescent or Adult with Asperger’s, continued Adolescents Adults • Most likely has been identified as having some psychiatric or developmental problems but may be in mainstream school program • Experiencing usual adolescent issues related to growth and development but becoming increasingly overwhelmed by them • At high risk for conflicts with or abuse by peers, school failure or dropout, substance abuse, severe mental illness • Psychiatric history of multiple diagnoses and treatments; most commonly ADHD, anxiety, mood disorders; sometimes BPD or personality disorders • Experiencing frustration, disappointment, anger, confusion about goals and identity, low self-esteem, loneliness, feeling “stuck”. • May have had legal problems related to outbursts, addictions, or other behavior such as apparent stalking

34. Methods for Assessment and Diagnosis:A general schema • Information MUST cover both present and historical symptoms • Information on co-morbid psychopathologies must be sought and interpreted in light of what is known about the history related to ASD • Multiple methods of information gathering and multiple informants should be used if possible • Recognize that older persons with ASDs present differently from young children (because of differences in developmental level, experience)

35. Methods for Assessment and Diagnosis:Information to be collected • Developmental history - Is there evidence of abnormal social communication early in life? Abnormalities in relationships with peers and others? Play? Problems in learning, language, motor or other skills? • Behavioral and emotional symptoms across the lifespan – Is there evidence of abnormalities in emotional responses? in ability to understand emotional and social cues? difficulties in regulating emotion? problems with anxiety, fearfulness, anger, panic? Difficulty with empathy? Poor insight? • Social problems – Is there evidence of unusual or inappropriate behaviors? Difficulties understanding social norms and contexts? Hx social rejection? • Other associated symptoms – e.g., Is there evidence of stereotyped movements? Sensory differences?

36. “Pro’s” • The “Gold Standard” for autism spectrum assessment • Can be used with adults • Collects essential information about historical and current behaviors relevant to diagnosis • “Con’s” • It may be difficult to get an accurate informant for the ADI-R, if the client is an adult • ADOS alone is not sufficient information • Requires the clinician to be specially trained • Lengthy and potentially expensive Autism Diagnostic Interview-Revised(Lord, Rutter & LeCouteur, 1994) Autism Diagnostic Observation Scale (Lord, Rutter, DiLavore, Risi, 1999)

37. The Adult Asperger Assessment (AAA): A Diagnostic Method Simon Baron-Cohen,1,2 Sally Wheelwright,1 Janine Robinson,1 and Marc Woodbury-Smith1 At the present time there are a large number of adults who have suspected Asperger syndrome (AS). In this paper we describe a new instrument, the Adult Asperger Assessment (AAA), developed in our clinic for adults with AS. The need for a new instrument relevant to the diagnosis of AS in adulthood arises because existing instruments are designed for use with children. Properties of the AAA include (1) being electronic, data-based, and computer scorable; (2) linking with two screening instruments [the Autism Spectrum Quotient (AQ) and the Empathy Quotient (EQ)]; and (3) employing a more stringent set of diagnostic criteria than DSM-IV, in order to avoid false positives. The AAA is described, and its use with a series of n = 42 clinic-patients is reported. Thirty-seven of these (88%) met DSM-IV criteria, but only 34 of these (80%) met AAA criteria. The AAA is therefore more conservative than DSM-IV. KEY WORDS: Asperger Syndrome (AS); Adult Journal of Autism and Developmental Disorders, Vol. 35, No. 6, December 2005.

38. Included in the AAA • The Empathy Quotient. (Baron-Cohen, S., & Wheelwright, S. (2004). The empathy quotient (EQ). An investigation of adults with Asperger Syndrome or high functioning autism, and normal sex differences. Journal of Autism and Developmental Disorders,34, 163–175.) • The Autism Spectrum Quotient (Baron-Cohen, S., Wheelwright, S., Skinner, R., Martin, J., & Clubley, E. (2001). The autism spectrum quotient (AQ): Evidence from Asperger syndrome/high functioning autism, males and females, scientists and mathematicians. Journal of Autism and Developmental Disorders, 31, 5–17.)

39. Ritvo Autism and Asperger’sDiagnostic Scale (RAADS). A Scale to Assist the Diagnosis of Autism and Asperger’s Disorder in Adults (RAADS): A Pilot Study Riva Ariella Ritvo , Edward R. Ritvo, Donald Guthrie, Arthur Yuwiler, Max Joseph Ritvo, Leo Weisbender. (2008) J Autism Dev Disord 38:213–223 Abstract . An empirically based 78 question self-rating scale based on DSM-IV-TR and ICD-10 criteria was developed to assist clinicians’ diagnosis of adults with autism and Asperger’s Disorder-the Ritvo Autism and Asperger’s Diagnostic Scale (RAADS). It was standardized on 17 autistic and 20 Asperger’s Disorder and 57 comparison subjects. Both autistic and Asperger’s groups scored significantly higher than comparison groups with no overlap; sensitivity, specificity, and content validity equaled one. Cronbach’s alpha coefficients of internal consistency of three subscales were satisfactory. Gender, age, and diagnostic categories were not significantly associated factors. The RAADS can be administered and scored in less than an hour and may be useful as a clinical scale to assist identification of autism and Asperger’s Disorder in adults. The RAADS does not distinguish between autism and Asperger’s Disorder.

40. AAA and RAADS: Pro’s and Con’s AAA RAADS • Useful for collecting specific information about DSM-related symptoms of AS • Easy to use, but must be hand scored • Written in British English • Not yet well standardized • Some clients can “fake” answers • Collects specific information about symptoms of AS/ASD but does not distinguish them • Easy to use, but hand scored • Based on a small sample study, not standardized • Some clients can “fake” answers

41. Additional Suggested Assessments • A developmental hx including early signs and symptoms, educational hx, family psychiatric hx, medical hx, social hx, past psychiatric dx if any, etc. • A clinical interview to address current concerns and observe current mental status and behavior • A standardized psychological assessment to identify psychopathologies that may be present • Also helpful: a neuropsychological assessment to identify cognitive strengths and weaknesses, sensory-motor issues, etc.

42. Some Points to Remember for the Adolescent Client • Parents may no longer remember some details of early childhood • Get them to bring in baby books, early pictures, school report cards etc • Ask other family members such as siblings or grandparents • Normal adolescent developmental tasks such as separation may play a role in how parents and the young person with AS see the situation • Typical life issues involve finishing high school, going to college, relationships with peers, and having the ability to work and live independently

43. Some Points to Remember for the Adult Client • Because of the difficulty of gathering early developmental history on older clients, and the preliminary nature of some assessment instruments, accurate diagnosis can be difficult. • Get spouses, siblings others as informants • Seek access to written reports of earlier functioning, school records, if they exist • Take the time necessary to get to know the person • Do not rely on scores alone! Astute clinical judgment is always necessary • Recognize that diagnosis of AS is not the end of the road, it’s the beginning • Typical life issues include getting or keeping a job, finding or improving a romantic relationship, achieving adult goals

44. Treatments? • Adolescents and adults with AS need treatment for co-morbid psychopathologies as well as help in overcoming barriers to personal goals • Both should be addressed • Medication treatment is helpful for some, but it should be accompanied by social support, education about AS, and therapeutic interventions to address cognitive and emotional difficulties that increase risk for psychopathology • Social and adaptive skills can and should be addressed but in the context of the larger picture

45. Revising the Diagnostic and Statistical Manual Changes to the Current DSM-IV Category of Pervasive Developmental Disorders: Childhood Disintegrative Disorder Rett’s Disorder Pervasive Developmental Disorder – NOS Asperger’s Disorder Autistic Disorder

46. What’s the “Problem” with Asperger’s Syndrome? • Almost no one really fits the criteria as currently written • There is equivocal evidence about whether persons with AS are sufficiently different from others on the autism spectrum to constitute a separate group • “Asperger’s” is being applied widely and perhaps too broadly in the community and in the media • The “Broader Autism Phenotype”

47. Autism Spectrum Disorder: DSM 5(Subsumes PDD-NOS, Autistic Disorder and Asperger’s Disorder) Must meet criteria 1, 2, and 3: • 1.  Clinically significant, persistent deficits in social communication and interactions, as manifest by all of the following: a.  Marked deficits in nonverbal and verbal communication used for social interaction: b.  Lack of social reciprocity; c.  Failure to develop and maintain peer relationships appropriate to developmental level • 2.  Restricted, repetitive patterns of behavior, interests, and activities, as manifested by at least TWO of the following: a.  Stereotyped motor or verbal behaviors, or unusual sensory behaviors b.  Excessive adherence to routines and ritualized patterns of behavior c.  Restricted, fixated interests • 3.  Symptoms must be present in early childhood (but may not become fully manifest until social demands exceed limited capacities)

48. Reasons for These Changes • Research does not support clear differences among these disorders: • “Differentiation of autism spectrum disorder from typical development and other "non-spectrum" disorders is done reliably and with validity; while distinctions among disorders have been found to be inconsistent over time, variable across sites and often associated with severity, language level or intelligence rather than features of the disorder.” • **E.g., the “no language delay” criterion for Asperger’s; most people with Asperger’s dx also meet criteria for Autistic Disorder : “Delays in language are not unique nor universal in ASD and are more accurately considered as a factor that influences the clinical symptoms of ASD, rather than defining the ASD diagnosis .”

49. Reasons for Changes, continued • Research does not support the usefulness of the other diagnoses in guiding treatment or predicting outcome: • “Because autism is defined by a common set of behaviors, it is best represented as a single diagnostic category that is adapted to the individual’s clinical presentation by inclusion of clinical specifiers (e.g., severity, verbal abilities and others) and associated features (e.g., known genetic disorders, epilepsy, intellectual disability and others.) A single spectrum disorder is a better reflection of the state of knowledge about pathology and clinical presentation; previously, the criteria were equivalent to trying to “cleave meatloaf at the joints”. • DSM 5 increases emphasis on developmental factors: “Autism spectrum disorder is a neurodevelopmental disorder and must be present from infancy or early childhood, but may not be detected until later because of minimal social demands and support from parents or caregivers in early years. • DSM 5 acknowledges that it is social communication, not all communication, that is specifically impaired in ASD: “Deficits in communication and social behaviors are inseparable and more accurately considered as a single set of symptoms with contextual and environmental specificities.”

50. Implications for Practice? • Persons with clinically significant impairments in social communication and also repetitive patterns can receive dx of an ASD whatever the IQ or verbal level. • Indicators of severity along dimensional scales will be used to help distinguish the needs and abilities of different individuals : “The draft criteria for ASD proposed by the Neurodevelopmental Disorders workgroup would include dimensions of severity that include current language functioning and intellectual level/disability.” • **Individuals with subclinical “Asperger-type” symptoms will not be classified as ASD**