Autism Spectrum Disorder. MAPA Fall Meeting October 9, 2015 Rebecca Klisz-Hulbert, M.D. Assistant Professor

Transcription

1 Autism Spectrum Disorder MAPA Fall Meeting October 9, 2015 Rebecca Klisz-Hulbert, M.D. Assistant Professor

2 Learning Objectives Understand the core symptoms that comprise autism spectrum disorder Understand the course and outcomes for autism spectrum disorder Summarize treatment options for autism spectrum disorder 2

3 Introduction Autism spectrum disorder (ASD) is a neuropsychiatric disorder characterized by patterns of delay and alterations in the development of social, communicative and cognitive skills Onset is in the first years of life ASD has diverse presentations 3

4 ASD & DSM ASD replaces DSM-IV s autistic disorder, childhood disintegrative disorder, Asperger s disorder, and pervasive developmental disorder not otherwise specified. Rationale: Clinicians had been applying the DSM-IV criteria for these disorders inconsistently and incorrectly; subsequently, reliability data to support their continued separation was very poor. Specifiers can be used to describe variants of ASD (e.g., the former diagnosis of Asperger s can now be diagnosed as autism spectrum disorder, without intellectual impairment and without structural language impairment). Copyright American Psychiatric Association. 4

5 Autism & Development Autism manifests as changes in development Development is affected by having autism ASD is a disorder of learning: Social observation Social imitation Context dependent Generalization of skills Early intervention is key! 5

6 Autism - History Leo Kanner (1943) - infantile autism 1944: Hans Asperger described a syndrome named autistic psychopathy, in which patients with normal intelligence demonstrated a qualitative impairment in reciprocal social interaction & behavioral oddities without language delays Initially thought of as childhood schizophrenia Autistic disorder & schizophrenia are distinct disorders 6

7 Autistic Spectrum Disorder - Epidemiology CDC s Autism & Developmental Disabilities Monitoring Network (ADDM), 2010: ASD prevalence of 1 in every 68 children 1 in 42 boys 123 percent increase from 2002 to 2010! Broader definition of ASDs does not account for the increase Improved and earlier diagnosis accounts for some of the increase, but not fully Average age of diagnoses is not until age 4 7

8 ASD - Etiology Neurobiology EEG abnormalities & seizure disorders in 20-25% NO ROLE OF VACCINATIONS Genetic Multiple genes appear to be involved Heritability estimates range from 37% to 90% Up to 15% of cases appear to be associated with a known genetic mutation; penetrance varies Environmental Advanced parental age Low birth weight Fetal exposure to valproate 8

9 Case Example Adam, age 6 Severe temper tantrums when he doesn t get his way Hits, scratches or bites family, teachers or peers Runs away or takes off clothes when overwhelmed Struggles with transitions & becomes fixated on an activity, such as playing in the water Preoccupied with cords/strings Odd behaviors: running hands on carpet, flapping hands, spinning Repeats others, but otherwise talks little Avoids eye contact, does not engage with peers 9

10 Autism Spectrum Disorder: DSM-5 A. Persistent deficits in social communication & social interaction across multiple contexts: 1. Deficits in social-emotional reciprocity 2. Deficits in nonverbal communicative behaviors used for social interaction 3. Deficits in developing, maintaining & understanding relationships B. Restricted, repetitive patterns of behavior, interests or activities as manifest by at least 2: A. Stereotyped or repetitive movements, use of objects or speech B. Insistence on sameness, inflexible adherence to routines or ritualized patterns of verbal or nonverbal behavior C. Highly restricted, fixated interests that are abnormal in intensity or focus D. Hyper- or hyporeactivity to sensory input or unusual interest in sensory aspects of the environment 10

11 DSM-5: ASD cont d C. Symptoms must be present in the early developmental period (but may not fully manifest until social demands exceed limited capacities, or may be masked by learned strategies later in life) D. Symptoms cause clinically significant impairment in social, occupational or other areas of current function E. Symptoms not better explained by intellectual disability or global developmental delay NOTE: Individuals with well-established DSM-IV diagnosis of autistic disorder, Asperger s or PDD-NOS should be given the diagnosis of ASD. Individuals with marked deficits in social communication who do not otherwise meet criteria for ASD should be evaluated for social communication disorder. 11

12 12 ASD Specifiers With or without accompanying intellectual impairment With or without accompanying language impairment Associated with known medical or genetic condition or environmental factor Associated with another neurodevelopmental, mental or behavioral disorder With catatonia

13 ASD Severity Level Social Communication & Interaction Restricted, Repetitive Behaviors Level 1 Mild Requires some support Social communication: noticeable deficits without supports. Difficulty initiating social interactions & clear examples of atypical or unsuccessful response to social overtures. May appear to have decreased interest in social interactions. Restricted, repetitive behaviors: significant interference w/ functioning in 1 or more contexts. Difficulty switching between activities. Problems of organization and planning hamper independence. Level 2 Moderate Requires substantial support Social communication: marked deficits; social impairments apparent even with supports in place; limited initiation of social interactions, & reduced or abnormal responses to social overtures from others Restricted, repetitive behaviors; appear frequently enough to be obvious to the casual observer. Distress/difficulty changing focus/action Level 3 Severe Requires very substantial support Social communication: severe deficits cause severe impairments in functioning, very limited initiation of social interactions and minimal response to social overtures from others Restricted, repetitive behaviors: markedly interferes with functioning in all spheres. Great distress/difficulty changing focus/action 13

14 Core Features of ASD Social Communication & Interaction Deficits Social-emotional reciprocity Nonverbal communication Peer relationships Restricted, Repetitive Behaviors Sensory disturbances Motor mannerisms Routines/rituals Strong interests 14

15 Social Communication & Interaction Deficits 1. Deficits in social-emotional reciprocity Abnormal social approach, failure of normal back & forth conversation Reduced sharing of interests, emotions, or affect Failure to initiate or respond to social interactions 2. Deficits in nonverbal communication Poorly integrated verbal & nonverbal communication Abnormal eye contact and body language, gestures Lack of facial expressions and nonverbal communication 3. Deficits in peer relationships Difficulties adjusting behavior to suit social contexts Difficulties in imaginative play or making friends Absent interest in peers 15

16 Infancy Social Communication & Interaction Deficits Lack social smile Lack anticipatory posture Poor eye contact Impaired attachment behavior Failure to differentiate primary caregiver 16

17 Social Communication & Childhood Interaction Deficits Extreme anxiety when routine is disrupted Difficult time playing w/ peers & making friends due to awkward & inappropriate social behavior Difficulty inferring the feelings of others Adolescence/Adulthood Lack of relationships 17

18 Social Communication & Interaction Deficits Communication styles: Stereotyped noises Say more than they understand Use a word once & then not say it again for months Pronoun reversal Difficulty putting meaningful sentences together Some autistic children may never develop useful speech 18

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20 Rigidity, Literal Communication zzrhzy&index=14&list=pl3ae3ad0c228 A8B08 20

21 Restricted, Repetitive Behavior 1. Stereotyped or repetitive motor movements, use of objects, or speech 2. Insistence on sameness, inflexible adherence to routines, or ritualized patterns of verbal or nonverbal communication 3. Highly restricted, fixated interests that are abnormal in intensity or focus 4. Hyper- or hyporeactivity to sensory input or unusual interest in sensory aspects of the environment 21

22 Restricted, Repetitive Behavior 1. Stereotyped/repetitive movements, use of objects or speech Stereotypies Lining up toys, flipping objects Echolalia Idiosyncratic phrases 22

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24 Restricted, Repetitive Behavior 2. Insistence on sameness, inflexible adherence to routines, ritualized behavior Extreme distress at small changes Difficulties with transitions Rigid thinking patterns Greeting rituals Need to take same route or eat same food every day 24

25 Insistence on Sameness xjnyaw&index=22&list=pl3ae3ad0c22 8A8B08 25

26 Restricted, Repetitive Behavior 3. Highly restricted, fixated interests that are abnormal in intensity or focus Strong attachment to or preoccupation with unusual objects Excessively circumscribed or perseverative interests 26

27 Restricted Interests 0zhnDZI&index=21&list=PL3AE3AD0C22 8A8B08 27

28 Restricted, Repetitive Behavior 4. Hyper- or hyporeactivity to sensory input or unusual interest in sensory aspects of the environment Apparent indifference to pain/temperature Adverse response to specific sounds or textures Excessive smelling or touching of objects Visual fascination with lights or movement 28

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30 ASD Associated Features Instability of mood & affect Hyperkinesis, aggression, temper tantrums Self-injurious behavior Inattention, insomnia, eating problems & enuresis Intellectual disability Language delay Splinter functions or islets of precocity Higher-than-expected levels of URI s & other minor infections; GI symptoms 30

31 ASD Course Symptoms typically noticed during 2 nd year of life Earlier recognition associated w/ developmental delays, later recognition in subtle cases Onset may include loss of social skills, developmental plateaus or regression Symptoms often the most significant in early childhood and school-age years 31

32 Lifelong course Good prognosis Normal IQ ASD - Prognosis Development of communicative language by age 5 Symptoms decrease with time in some cases Self-mutilation, aggression, regression may develop Ritualistic & repetitive behaviors more fixed Grand mal seizures negatively affect prognosis 32

33 ASD Differential Diagnosis Rett Syndrome Selective Mutism Language Disorders, Social Communication Disorder Intellectual Disability without ASD Congenital Deafness or Severe Hearing Impairment Psychosocial Deprivation Childhood Onset Schizophrenia 33

34 ASD - Comorbidity Intellectual disability Structural language disorder ADHD Anxiety disorders Depressive disorders Specific learning disorders Developmental coordination disorder Avoidant-restrictive food intake disorder Medical conditions (epilepsy, sleep problems, constipation) 34

35 ASD - Diagnosis Routine developmental screening (i.e. M- CHAT, SCQ) ASD diagnostic evaluation (i.e. ADOS) Multidisciplinary assessment 35

36 ASD - Treatment Treatment goals: Increase socially acceptable & pro-social behavior Decrease odd behavioral symptoms Improve verbal & nonverbal communication Parental support & counseling Language remediation Educational interventions Structured classroom setting Behavioral interventions Applied Behavior Analysis techniques Occupational/Physical therapy, sensory integration therapy 36

37 ASD - Treatment Pharmacologic treatment target specific symptoms Antipsychotic agents (e.g. risperidone) SSRI s (e.g. fluoxetine, fluvoxamine) Stimulants (e.g. methylphenidate, amphetamine salts) or atomoxetine Alpha agonists (clonidine, guanfacine) 37

38 Asperger s Disorder In DSM-5, Asperger s is subsumed under the ASD category; however, individuals who identify themselves as Asperger s may continue to do so 38

39 Case Example Tommy, age 9 No friends, doesn t get along with other kids Feels that other kids & adults are inferior intellectually Unable to carry on a reciprocal conversation Often lectures on his favorite topic of dinosaurs Knows the names & statistics for every dinosaur Rigid about daily routine Often teased or bullied because of poor social interactions 39

40 Social (Pragmatic) Communication Disorder New to DSM-5 Meant to name individuals who have a deficit of social communication/pragmatics without other features of ASD 40

41 Social (Pragmatic) Communication Disorder A. Persistent difficulties in the social use of verbal and nonverbal communication as manifest by deficits in all of the following: 1. Deficits in using communication for social purposes, in a manner that is appropriate for the social context 2. Impairment in the ability to change communication to match context or the needs of the listener 3. Difficulties following rules for conversation and storytelling 4. Difficulties understanding what is not explicitly stated B. Functional limitations in effective communication, social participation, social relationships, academic achievement, or occupational performance. C. Deficits are present in the early developmental period, but may not become fully manifest until social communication demands exceed capacities. D. Not better explained by ASD, ID or another disorder 41

42 Social (Pragmatic) Communication Disorder LgUkSQ&index=26&list=PL3AE3AD0C22 8A8B08 42

43 Intellectual Disability - Epidemiology Previously termed mental retardation Prevalence: ~ 1% of population Sex Distribution: boys>girls Distribution (DSM-IV) Mild (IQ to 70) 85% Moderate (IQ to 50-55) 10% Severe (IQ to 35-40) 3-4% Profound (IQ < 20-25) 1-2%

44 Intellectual Disability - Etiology Only 25% of cases are known to be the result of biological abnormalities. The remaining 75% have been considered "psychosocial or idiopathic in origin Prenatal Factors Perinatal Factors Postnatal Factors

45 Intellectual Disability Diagnosis Below normal intelligence accompanied by deficits in adaptive functioning IQ <70 (>2 standard deviations below mean) Onset before age 18 Borderline Intellectual Functioning (IQ 70-84) Mild ( IQ 55-70) Moderate (IQ 40-55) Severe (IQ 25-40) Profound (IQ <25)

46 Intellectual Disability - Management Special education Behavior modification Psychiatric intervention Respite care for families Group homes

47 QUESTIONS???