:{ic0fp'16. Introduction to Autism Spectrum Disorders. Lydia Vender, DO, FACN. ACOFP 53 rd Annual Convention & Scientific Seminars

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1 :{ic0fp'16 ACOFP 53 rd Annual Convention & Scientific Seminars Introduction to Autism Spectrum Disorders Lydia Vender, DO, FACN

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3 Introduction to Autism Spectrum Disorders Lydia Vender, D.O. FACN Assistant Professor, Psychiatry The CARES Institute- Rowan University School of Osteopathic Medicine Stratford, NJ Learning Objectives Define Autism Spectrum Disorders by DSM-5 Enumerate former disorders now under ASD Identify the variability of functional level within the disorders Discuss chronology of the history of Autism Discuss a case study 1

4 Autism Etymology "Autism Etymology." Google. N.p., n.d. Web. 28 Aug Former Disorders under ASDs QuickTime and a decompressor are needed to see this picture. Autism Spectrum Disorder Timeline 1908: Eugen Bleuler Swiss psychiatrist 1st used term to describe sx of schizophrenia 1943: Leo Kanner used term in a publication Later uses Early Infantile Autism 1944: Hans Asperger describes a milder form of autism in Germany 1967: Bruno Bettelheim - Refrigerator Mother causes autism 2

5 Autism Spectrum Disorder Timeline 1977: twin research sheds light on genetics and biology 1980: Infantile Autism (DSM) separated from childhood schizophrenia 1987: Infantile Autism changed to Autism Disorder 1987: UCLA psychologist Ivar Lovaas PhD. published study showing intensive behavioral therapy helps Autism Spectrum Disorder Timeline 1988: Rain Man starring Dustin Hoffman is released 1991: Feds make Autism a Special Ed. category- Public schools identify kids on the spectrum and provide special services 1994: Aspergers Disorder added to DSM 1998: Lancet article suggests MMR vaccine causes Autism (quickly debunked) 2000: routine vaccines remove Thimerosal Autism Spectrum Disorder Timeline 2009: CDC 1:110 kids have autism- up from 1:150 in 2007 (improved screening and Dx) 2013: DSM-5 Autism Spectrum Disorder Aspergers Disorder no longer distinct, Rhett s Disorder is now listed under neurologic disorders 2014: Genetic study UC San Francisco with 50 labs worldwide identified > 100 genes, 60 with high confidence published in Nature Data from Simons Simplex Collection (SSC) repository 3,000 families -Simons Foundation Autism research Institute 3

6 Autism Spectrum Disorder Timeline 2014: Autism Sequencing Consortium (ASC) supported by NIMH allows for large genomic studies prior to this there were only 11 genes implicated with a high confidence, now 60 genes implicated with high confidence 2015: synthetic oxytocin for 5 weeks found improved social, emotional and behavioral issues published by U of Sydney in Molecular Psychiatry Definition under DSM-5 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; see text): Deficits in social-emotional reciprocity, ranging, for example, from abnormal social 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 communicative 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 understand 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. DSM V-5 "Diagnostic Criteria." Centers for Disease Control and Prevention. Definition under DSM-5 Severity is based on social communication impairments and restricted, repetitive patterns of behavior. A.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 stereotypes, 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 same route or eat same food every day). 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 hypo-reactivity to sensory input or unusual interest in sensory 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). 4

7 Definition under DSM-5 Severity is based on social communication impairments and restricted, repetitive patterns of behavior. A.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). B.Symptoms cause clinically significant impairment in social, occupational, or other important areas of current functioning. C.These disturbances are not better explained by an intellectual disability (intellectual developmental disorder) or global developmental delay. Intellectual disability and autism spectrum disorder frequently co-occur; to make co-morbid diagnoses of autism spectrum disorder and intellectual disability, social communication should be below that expected for general developmental level. Note: Individuals with a well-established DSM-IV-TR 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. Definition under DSM-5 Specify if: With or without accompanying intellectual impairment With or without accompanying language impairment Associated with a known medical or genetic condition or environmental factor (Coding note: Use additional code to identify the associated medical or genetic condition.) Associated with another neurodevelopmental, mental, or behavioral disorder (Coding note: Use additional code[s] to identify the associated neurodevelopmental, mental, or behavioral disorder[s]. With catatonia (refer to the criteria for catatonia associated with another mental disorder) (Coding note: Use additional code catatonia associated with autism spectrum disorder to indicate the presence of the co-morbid catatonia.) Definition under DSM-5 Social (Pragmatic) Communication Disorder: Diagnostic Criteria: A. Persistent difficulties in the social use of verbal and nonverbal communication as manifested by all of the following: 1. Deficits in using communication for social purposes, such as greeting and sharing information, in a manner that is appropriate for the social context. 2. Impairment of the ability to change communication to match context or the needs of the listener, such as speaking differently in a classroom than on the playground, talking differently to a child than to an adult, and avoiding use of overly formal language. 3. Difficulties following rules for conversation and storytelling, such as taking turns in conversation, rephrasing when misunderstood, and knowing how to use verbal and nonverbal signals to regulate interaction. 4. Difficulties understanding what is not explicitly stated (e.g., making inferences) and nonliteral or ambiguous meanings of language (e.g., idioms, humor, metaphors, multiple meanings that depend on the context for interpretation). 5

8 Definition under DSM-5 Social (Pragmatic) Communication Disorder: B. The deficits result in functional limitations in effective communication, social participation, social relationships, academic achievement, or occupational performance, individually or in combination. C. The onset of the symptoms is in the early developmental period (but deficits may not become fully manifest until social communication demands exceed limited capacities). D. The symptoms are not attributable to another medical or neurological condition or to low abilities in the domains or word structure and grammar, and are not better explained by autism spectrum disorder, intellectual disability (intellectual developmental disorder), global developmental delay, or another mental disorder. Autistic Psychopathy Lack of empathy Little ability to form friendships One-sided conversations Intense absorption in a special interest Clumsy movements Cardinal Symptoms Difficulty with Reciprocal Social Interaction Impairments in Language Skills Narrow Range of Interest Motor Clumsiness Cognitive Issues Sensory Sensitivities 6

9 Epidemiology 1% of population has an ASD (CDC 2014) US 1/68 births (CDC 2014) > 3.5 m americans with ASD (CDC 2014) Prevalence increased 119.4% in 2000 (1/150 to 1/68) Autism services cost billion annually Adult services billion, child billion annually "Director's Blog: Autism Prevalence: More Affected or More Detected?" NIMH RSS. N.p., n.d. Web. 22 Nov Epidemiology Costs can be decreased by 2/3 with early intervention Additional costs across lifespan 2.4 million with an ID or 1.4 million without an ID ASD costs 8,600 extra per child per year for education ( 2014) "Director's Blog: Autism Prevalence: More Affected or More Detected?" NIMH RSS. N.p., n.d. Web. 22 Nov Causality There is no one single cause of an ASD research suggests heredity, genetics, medical Abnormalities of structure/ function noted Differences in shape/structure vs. neurotypical brains No one gene is responsible, looking for irregular segments of genetic code, some kids born with susceptibility- not sure of trigger "Causes Autism Society." Autism Society Causes Comments. N.p., n.d. Web. 22 Nov

10 Causality Cluster of unstable genes interfere with brain development Researching problems: in pregnancy(exposure ingestion) environmental, (Viral, metabolic and toxins) ASD associated with Fragile X, Tuberous Sclerosis, Congenital Rubella, untreated PKU "Causes Autism Society." Autism Society Causes Comments. N.p., n.d. Web. 22 Nov Causality Patterns observed in families with ASD Decreased IQ vs. incorrect test (TONI) Test of non-verbal intelligence Seizure in 30 % Constipation/diarrhea Pica 30% Decreased muscle tone 30% Allergies/immune system dysfunction "Causes Autism Society." Autism Society Causes Comments. N.p., n.d. Web. 22 Nov Diagnosis Developmental, medical, & family history Past psychiatric history Social reasoning, cognitive abilities Coordination & sensory perception Emotions, language, & interests Social skills Diagnostic testing 8

11 CASE OF M.T. HISTORY DOV: 10/26/01 We brought Mary here because, things just don t seem right, she has a difficult time keeping a job, staying on task, following directions, and with time management. HISTORY OF PRESENT ILLNESS -The patient is a 21 Y.O. female -Has been having problems at her current job. -Recently fired from another job secondary to insubordination -She has some difficulty with math/reading skills -She gets aggressive when frustrated or angry -She focuses on details and lose sight of the picture Why is Collateral Information Important? Collateral history is very important when a patient with an Intellectual Disability or ASD presents to your office. The history from the patient is not always reliable. When evaluating a patient with an Intellectual Disability or ASD, family and various ancillary staff can be helpful by providing information regarding the patient. CASE OF M.T. DOV: 10/26/01 ANCILLARY HISTORY Patient s family reports that Mary focuses on details that often turn in to obsessive behaviors She will pick at her face until it bleeds She has problems with social cues and social interaction with people She prefers solitary activities She frequently has difficulties with transitions. (i.e. change of season, change of plans, etc.) PAST MEDICAL HISTORY Term repeat C-section- Had Leukemia (ALL) at 18 months with chemotherapy and radiation All developmental milestones were reported to be WNL H/O irregular menses 9

12 CASE OF M.T. PSYCHIATRIC HISTORY DOV: 10/26/01 The patient was diagnosed with ADHD, Adjustment Disorder with Mixed Disturbance of emotions and conduct, Bipolar D/O, and Samantic - Pragmatic Disorder in the past. SOCIAL AND FAMILY HISTORY The patient lives at home with her parents and brother Her father is 53 Y/O with heart disease and is an insurance broker Her mother is 52 Y/O with a history of breast cancer and is a realtor Her brother has a diagnosis of Bipolar Disorder and Autism There is no history of drug or ETOH abuse CASE OF M.T. MENTAL STATUS EXAM A&O x3 Speech - Monotone Mood - Medium Affect - Flat No SI/HI DOV: 10/26/01 Calculations Poor Memory 3/3 p 5 min. Proverbs Concrete Insight & Judgment - Limited CURRENT MEDS Concerta SR 54 mg/ d Effexor 150 mg/ d Provigil 200 mg ii / d Seroquel 200 mg / d PAST MEDS Paxil 40 mg / d Neurontin 700 mg / d Ritalin 40 mg/ d Klonapin 6 mg/ d 1. LABORATORY DATA: No labs for greater than 1.5 years What are the Symptoms? Mary is easy to anger and has no friends She essentially works and then goes home She doesn t learn from experience, consequences, or any interventions. She interprets questions literally She exhibits a lack of empathy, and social responsiveness. She has a history of circumscribed interests. She uses sentences correctly, but has little variation in pitch and tone of her sentences. 10

13 CASE OF M.T. Assessment AI History of Bipolar D/O, H/O ADHD, and R/O Autism Spectrum Disorder AII Deferred AIII See Medical History DOV: 10/26/01 PLAN Get labs and EKG Neuro-Psych Testing (ADOS/ADI) Family therapy referral Mom to attend conference on ASD CASE OF M.T. DOV: 10/26/01 INTERIM HISTORY ADOS/ADI yielded results consistent with PDD NOS, & Autism. This is not unusual result on the ADOS/ADI. (The primary function of which is to distinguish among strictly- defined criteria for Autism Spectrum Disorders for research purposes.)both note she meets DSM IV criteria for Aspergers Disorder. Evaluation completed 7/8/02. Note: Verbal IQ > Performance IQ. Patient re-presents 3/5/03. She has gained 80 lbs. since last visit. She remains intolerant of any criticism, correction, or anything perceived as such: She remains intolerant of what she perceives as stupidity in others, e.g. apparent errors or discrepancies in her schedules at work. CASE OF M.T. CURRENT MEDS DOV: 10/26/01 Lexapro 30 mg alt w Lexapro 40mg Q 2wksEffexor ER 450 mg Seroquel mg 8 AM 8AMDepakote ER 500 HS &PMRitalin LA 20 mg QAMRitalin 20 mg QAM, Ritalin 10 mg 5PM SHORT TERM PLANS Get labs & EKG (last > 8 months)look for LED of all Patients medications LONG TERM PLANS Over the last several years Mary has been weaned off of all of her medications except Concerta 27mg & Lexapro 25mg/d The diagnosis of Bipolar D/O has been dropped. She now lives in a group home & continues in family therapy. 11

14 ASD Child/Adolescent/Adult The presentation can vary across the lifespan A child may have many signs of an ASD, yet seem to outgrow them Research shows early intervention is key Patients with ASD have neurotypical interests Adults interests can change, medical problems can become more prominent Professional Books on ASD Various. "Google." Google. N.p., n.d. Web. 26 September Books on ASDs Various. "Google." Google. N.p., n.d. Web. 26 September

15 Children s Books on ASDs Various. "Google." Google. N.p., n.d. Web. 26 September Teens Books-ASD Various. "Google." Google. N.p., n.d. Web. 26 September TV Shows Show: Parenthood Character: Max Braverman Actor: Max Burkholder Seasons: 1-6 Show: Degrassi Character: Campbell Saunders Actor: Dylan Everett Seasons: 12 Various. "Google." Google. N.p., n.d. Web. 26 September

16 ASD in Movies Various. "Google." Google. N.p., n.d. Web. 26 September National Organizations Autism Network International (ANI) Autism Research Institute (ARI) Autism Resource Network Autism Society of America (ASA) Autism Speaks Council For Exceptional Children Cure Autism Now Future Horizons National Organizations Kennedy Krieger Institute MAAP Services for Autism & Asperger Syndrome M.I.N.D. Institute National Autism Center National Information Center for Children with Disabilities (NICHCY) Unlocking Autism Yale University Child Study Center 14

17 Final thoughts If you ve seen one person with Autism. you ve seen one person with Autism My ultimate editor 15