Course # Understanding Autism

Transcription

1 Course # 503 Understanding Autism

2 Disclaimer Slide Understanding Autism Andrea Gregory, MD, FAAP Objectives The learner will understand what Autism Spectrum Disorder encompasses and how it manifests clinically The learner will become familiar with current diagnostics and therapeutics used in ASD The learner will recognize controversies associated with the cause and treatment of autism. Defining Autism Pervasive Development Disorder Autism Autism Spectrum Disorder Asperger s Disorder Rett s Disorder Childhood Disintegrative Disorder Defining Autism DSM V A. Persistent deficits in social communication and social interaction across multiple contexts, as manifested by the following, currently or by history: 1. 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. 2. 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. 3. 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. Severity is based on social communication impairments and restricted repetitive patterns of behavior (see Table 2). 1

3 Defining Autism DSM V B. Restricted, repetitive patterns of behavior, interests, or activities, as manifested by at least two of the following, currently or by history: 1. Stereotyped or repetitive motor movements, use of objects, or speech (e.g., simple motor stereotypies, lining up toys or flipping objects, echolalia, idiosyncratic phrases). 2. Insistence on sameness, inflexible adherence to routines, or ritualized patterns or verbal nonverbal behavior (e.g., extreme distress at small changes, difficulties with transitions, rigid thinking patterns, greeting rituals, need to take same route or eat food every day). 3. 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 interest). 4. Hyper or hyporeactivity to sensory input or unusual interests 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). Defining Autism: DSM V 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). D. Symptoms cause clinically significant impairment in social, occupational, or other important areas of current functioning. 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 diagnoses of autism spectrum disorder and intellectual disability, social communication should be below that expected for general developmental level. Epidemiology Causes of Autism 1 in 68 children 5x more common in boys All ethnicities affected Year in in in in in 68 The Early Signs Diagnosis: Learn the signs. Act early. Decreased or avoidance of eye contact Lack of pointing at objects Concern for poor hearing responds less to people talking than to other sounds Lose skills they once had Lack of pretend play Repeat actions over and over 2

4 Other typical behaviors Have trouble relating to others (clip) trouble understanding others feelings, Repeat or echo words or phrases said to them scripting (clip) Unusual reactions to the way things sound, smell, taste, or feel hypersensitivity Excessive trouble adapting to changes in routine Developmental Screening General screening for all types of delay Specialized screening for ASD Modified Checklist for Autism in Toddlers 23 item checklist Sensitive and highly specific Specialized screening for Asperger s or highfunctioning autism Parental concerns Comprehensive Evaluations Performed by specialists Should include hearing and vision testing, genetic testing, complete evaluation of gross motor, fine motor, social/emotional development, and intelligence Maybe it s not only ASD Rett Disorder Fragile X Mutation in MECP2 gene X linked dominant affects mainly girls Development normal for 6 months then rapidly regresses Loss of purposeful hand movements and development of characteristic hand wringing Severely impaired language development, profound intellectual disability, Autistic behaviors may improve over time X linked triplet repeat disorder Moderate to severe intellectual disability Typical physical features Behaviors consistent with ASD, may have increased aggression image 3

5 Tuberous sclerosis Co morbidities: Seizures Autosomal dominant inheritance, 2 possible genes affected Retinal lesions Brain lesions cortical tubers Seizures, cognitive impairment, ASD behaviors image Co morbidities: GI symptoms Treatment Early Childhood Intervention EARLY! Prior to age 3 INTENSIVE INDIVIDUALIZED After age 3 school system responsible Applied Behavior Analysis Encourage positive behaviors, discharge negative behaviors Discrete Trial Training PivotalResponse Training Verbal Behavioral Intervention Floortime Developmental, Individual Differences, Relationship based approach 4

6 TEACCH Treatment and Education of Autistic and related Communication handicapped CHildren Occupational ltherapy Speech Therapy Sensory Integration Therapy Picture Exchange Communication System Medications Stimulants methylphenidates and amphetamines (i.e. Ritalin, Adderall, Concerta) Antidepressants selective i serotonin reuptake inhibitors (i.e. fluoxetine, sertraline) Antipsychotics Complementary and Alternative Therapies a.k.a. Integrative Medicine Level of research and evidence base varies widely Anecdotal evidence as research Should be used with traditional methods, not instead of Dietary Changes Gluten free diets Avoidance of wheat, rye, barley, +/ oats Used in absence of proven celiac disease Casein free diets Avoidance of dairy Dietary Changes Restrictive diets CAN be nutritionally sound and safe or nutritionally deficient Can be expensive and disruptive to families Should be instituted under the care of a registered dietitian Measuring/monitoring response Supplements Omega 3 fatty acids Multivitamins Vitamin B12 injections Probiotics 5

7 Is the prevalence REALLY 1 in 68? Data from 2010 from the CDC s Autism and Developmental Disabilities Monitoring Network CONTROVERSIES 11 sites (Alabama, Arizona, Arkansas, Colorado, Florida, Maryland, Missouri, New Jersey, North Carolina, Pennsylvania, South Carolina, Utah, West Virginia, and Wisconsin) Surveillance of 8yo children Use health care sources and/or education sources 65% 90% had a previously documented diagnosis of ASD Do vaccines cause autism? Do vaccines cause autism? Maybe it s the thimerosol. Ethyl mercury based compound used as preservative Environmental mercury is METHYL mercury No evidence of causal relationship between exposure and development of symptoms Removed from most vaccines prevalence has only increased Media Coverage: A few words about Jenny McCarthy and False Balance (image) Questionable Therapies Complementary and Alternative Medicine treatments CAN have a role in treatment Risk vs. Benefit (image) 6

8 Chelation Therapy Used in patients with known heavy metal poisoning, iron overload, etc Involves administering a substance that binds heavy metals and allows excretion Use in Autism was due to the hypothesis that the disorder was caused by excessive mercury deposition Considered unsafe and unnecessary have been reported deaths Secretin A naturally produced gastrointestinal hormone Underlying hypothesis that autism is related to GI abnormalities Good research showing NO EVIDENCE of effect Hyperbaric oxygen Used to treat decompression sickness, carbon monoxide poisoning Hypothesis that enhancing delivery of oxygen to brain will promote brain recovery Side effects ear and pulmonary barotrauma, reversible myopia, seizures Multicenter randomized controlled trial Antibiotics/Antifungals Hypothesis that symptoms caused/worsened by bacterial or fungal overgrowth No controlled trials Gut microbiome research Side effects: hepatotoxicity, anemia, nausea/vomiting, diarrhea, dermatitis, development of bacterial/fungal resistance Caring for Your Patients with Autism Seek help from the MOST knowledgeable person Individualize id your approach May require multiple visits Environmental Modifications Consider sensitivities Waiting room Exam room Frame room Frame room Communicate with the patient in the manner that works best Careful frame fitting 7

9 Other Modifications Consider contacting patient s therapists if parents are out of ideas Use of other aids music, i weighted ih dblankets, vibration I am different. Not less. 8