Presentation on theme: "Autism Spectrum Disorders"— Presentation transcript:
1 Autism Spectrum Disorders Judith A. Axelrod, M.D.Developmental-Behavioral PediatricianSquare One Specialists in Child and Adolescent DevelopmentProfessor of PediatricsUniversity of Louisville School of Medicine
2 DisclosuresA. “I have no relevant financial relationships with the manufacturers of any commercial products and/or provider of commercial services discussed in this CME activity.”B. “I do not intend to discuss an unapproved/investigative use of a commercial product/device in my presentation.”
4 Autism Spectrum Disorder Described in 1943 by Dr. Leo KannerStudy of 11 childrenEarly infantile autismCharacterized by social differencesDr. Hans AspergerDescribed milder form of disorderAsperger syndrome
5 Autism Spectrum Disorder/ Pervasive Developmental Disorders DSM-IV-TR (APA, 2000)5 disorders under the PDD umbrellaQualitative impairments of communicationQualitative impairments of social skillsRestricted, repetitive, and stereotyped patterns of behavior, interests, and activities
7 Autism Spectrum Disorders Social communication skills<cognitive skillsPDD-NOSSub-threshold AutismAsperger SyndromeSocial interaction deficits and restricted interestsChild Disintegrative DisorderNormal development for first 2 years of lifeRett Syndrome
8 Social Communication Disorders AutismAsperger’s DisorderPervasive Developmental Disorder, NOS
9 Development of social communication Within the first and second year of life children develop:Sense of selfCapacity to judge form evidenceAbility to integrate ideas from past experienceAbility to appreciate psychological state of another person
13 Social Communication requires: Joint attentionEffective reciprocity or emotional sharingThe ability to realize that another person has thoughts and ideas similar to you
14 Theory of Mind Understanding the desires of another Understanding the emotional state of another personHaving the ability to figure out what a person’s intentions areKnowledge that what you are thinking can be conveyed to others through nonverbal means
15 Case studyJoseph is a 2 ½ year old male who lives “in his own world”. During his first year of life he was playful and interactive. He spoke single words at 8 months. At 15 months he had a 9-15 word vocabulary. At 18 months an insidious regression of his language and communication skills began. By 2 years, Joseph spoke 4 words; he did not give eye contact. He did not share his joys.
17 Autism Spectrum Disorder Neurobiological disorderInconsistency of developmentExpression of symptoms varies with age and developmental level of person
18 Autism Universally considered a neurobiological disorder No specific etiologyLikely complex etiologyGeneticsEnvironmental factorsAssociated conditions
19 Genetic Aspects 5% recurrence risk Concordance in 90% monozygotic twinsConcordance in <10% dizygotic twinsMild associations with genetic syndromesFragile X syndrome (3%)Tuberous Sclerosis (2-5%)
20 Associated with Autism perhaps by chance NeurofibromatosisCornelia de Lange SyndromeAngelman SyndromeDown SyndromeIntrauterine exposure to:RubellaCMVVaricella
21 Autism Facts Common (1:160) More common in boys Occurs across all populationsCause is not knownConsidered a spectrum disorder
22 Associated medical conditions Mental retardationSeizuresTwo phases of presentationEarly childhoodLate adolescenceLinked to evidence of brain dysfunction/damage
23 Autism through the lifespan Infants and toddlersEasy going “too good” babyBaby with sensory processing abnormalitiesDifficulty regulating behaviorOverexcited, fussy, crying inconsolably
24 Infants and Toddlers Poor imitation Abnormality in eye contact Under responsive to peopleBland facial expressions with less smilingHigh tolerance to pain, cold, or heatHypersensitive to taste, touch
29 Early Childhood Typically most obvious signs and symptoms of Autism Ages 4-5 years standard age in determining severity of AutismRepetitive and stereotypic behaviors emerge and peek at 5-7 yearsSpecial interests and sameness emergeObsessions and compulsions
30 Common Features Repeated body movements/stereotypies Hand flapping, pacing, unusual inspection, opening and shutting doors, staring at lightsAttachments to objectsResistance to changeDifficulties with transitionsAggressionSelf injurious behaviors (rare)
31 Common Features, continued Sensory issuesDifficulty with generalizationOverselectivitySplinter skills
35 Adolescents Continued difficulty with social and pragmatic language Some seek to develop social skillsRefinement of special interestsIncreased anxiety, some have deterioration but regain later
36 Adults Vastly differing outcomes 1/3 able to care for self, achieve some independence, have some friends, live independently or with support, workNearly 70% have fair to good languageMarriage is rare
37 Adults continued About 45% have poor outcome Dependent on family or living in residential settingMajor seizures, behavioral problems, continued dependencyIncreased rates of depression and anxiety
39 Asperger syndrome continued No apparent cognitive impairmentNo apparent receptive or expressive language impairment
40 Asperger Syndrome Impairment in social interaction Restricted, repetitive, and stereotyped patterns of behavior
41 Ian is a 12 yr old who is described as a bright, witty, intelligent youngster who talks constantly. He is curious and persistent. He is anxious, argumentative and has trouble with transitions. Ian has a history of repetitive behaviors described as facial grimacing, finger rituals. He has unusual speech patterns. Adults are more tolerant of him than same aged peers. He has few friends. Parents reportthat Ian is an only child because life is very difficult with him and he requires much time and effort. Ian has Asperger Disorder.
42 Asperger Syndrome Normal language development No delay in receptive and expressive language milestonesLanguage skills are defined as normal especially in early lifeNo delay in cognition or adaptive behaviors in early life
43 Asperger Syndrome Qualitative impairments in social interaction 1. Impaired nonverbal behaviorPoor eye gazePoor use of facial expressionPoor use of gestures to regulate interaction
44 Asperger Syndrome Qualitative impairments in social interaction Impaired social communicationRigidExcessive or tediousPedanticNarrow range of interests
45 Nonverbal Learning Disorders Some experts believe that NLD and Asperger Syndrome are one and the sameClinical presentation is similar with Asperger Syndrome
46 NLD CharacteristicsComposed of a constellation of skill deficits that impact all aspects of living.Poor nonverbal problem solvingSignificant discrepancy between verbal and nonverbal cognitive abilitiesMuch lower nonverbal than verbal
47 NLD continuedDifficulty correctly processing and attending to tactile and visual modalities.Psychomotor coordination difficulties or physical awkwardness.Specific weaknesses in social perception and social judgment.Significant problems in adapting to new or complex situations.
48 NLD RisksSocial withdrawal and social isolation which may worsen as they get older.Predisposed to have internalizing psychological disorders such as depression and anxiety.Often diagnosed (misdiagnosed?) with ADHD due to poor organizational skills, poor planning and impulse control difficulties.Perceptual difficulties of NLD can interfere with reading, math, spelling.
53 Childhood Disintegrative Disorder Normal development 1st 2 yearsSignificant loss of skills (before 10 years) in at least 2 areas:Expressive or receptive languageSocial skills or adaptive behaviorBowel or bladder controlPlayMotor skills
54 Childhood Disintegrative con’t Abnormalities of functioning in at least 2 of the following areas:Qualitative impairment in social interactionQualitative impairments in communicationRestricted, repetitive, and stereotyped patterns of behavior, interests, and activities
55 Level One Assessment A screening Developmental surveillance by providers performed at every well child visitA starting level evaluation for children referred for developmenal difficulties
56 Level One, continued Use broad-band screening questionnaires Listen to parental concerns about child’s developmentAsk specific developmental probes regarding speech-language, social, and behavioral development
57 Examples of Parent Concerns Acts as if cannot hear wellNot talking like shouldActs as if in his own worldA lonerDoes same play over and overOdd interests
58 Absolute Indicators for Level Two Evaluation No babbling by 12 monthsNo gesturing by 12 monthsNo single words by 16 monthsNo 2-word spontaneous phrases by 24 monthsAny loss of any language or social skills at any age
59 Diagnosis and Assessment of Autism Level Two EvaluationDiagnosis and Assessment of Autism
60 Diagnostic Toolbox Input from team Input from parents Input from schoolDirect observationCognitive measuresAdaptive measuresDiagnostic measuresClinical judgment
61 Cognitive MeasuresNo cognitive pattern confirms or excludes a diagnosis of Autism (but may help in differentiation of Asperger Syndrome or Nonverbal Learning Disorder).Essential for educational planningProvides a full range of standard scores (floor)
62 Adaptive Measures Essential in the diagnosis of mental retardation Provides information regarding social and communication functioningExample:Vineland Adaptive Behavior Scales
63 Input from Speech-Language Pathologist Measures of receptive languageMeasures of expressive language, including both communicative means (how) and communicative functions (why)Measures/observations of play and social skillsPragmatics
64 Medical Diagnostic Measures Comprehensive Physical and Neurological examinationLaboratory evaluationHigh resolution chromosome analysisDNA for Fragile X SyndromeThyroid function testingPlasma amino acid screenUrine Organic acidsComparative Genomic Hybridization Study
65 Medical Diagnostic Measures MRI of brainSleep deprived EEG
66 Screening and Diagnostic Measures Various standardized questionnaires and structured interviews are part of a thorough assessment for ASD.Standardized measures can help by providing information regarding:SymptomsPrimary domains of deficitsSeverity of symptoms / deficits
67 Screening and Diagnostic Measures Autism Diagnostic Interview – RevisedAutism Diagnostic Observation ScheduleChildhood Asperger Syndrome TestChecklist for Autism in ToddlersSocial Communication QuestionnaireGilliam Autism Rating ScaleChildhood Autism Rating Scale
69 Intervention Early identification Speech-Language Therapy Occupational TherapyPhysical TherapyInteraction with same aged normal peers
70 Intervention Development of a communication system Picture Exchange Communication System (PECS)Visual schedulesVisual cuesSocial skills trainingSocial storiesPlay groups
71 InterventionAnalysis of behavior for appropriate behavioral intervention (e.g., ABA)Intensive behavioral approachGoal is to teach children how to learn by focusing on building blocks of developmentDevelopmental, individual-difference, relationship-based (DIR) / FloortimeUse of play to build relatedness (e.g., warmth, pleasure, meaningful communication, creativity)
73 Educational Intervention Teachers need specific training in the education of children with AutismIntensive Speech-Language therapyCollaboration between therapist, parents, and teacher is criticalPromote behaviors with positive behavioral strategiesUse of visual and manipulative educational materials
74 Educational Intervention Visual communication aidsVisual schedule, chart of daily activitiesSocial skills trainingBuddy systemSocial storiesPositive reinforcement for positive behaviors
75 Key Issues for Intervention Early intervention is criticalCommunicationSocial Skills DevelopmentGradual increase in prosocial behaviorsDevelopment of self & awareness of others
76 Medication There are no medications that “cure” Autism. Medication should be used forspecific symptoms.
77 Specific symptoms for medication AnxietyObsessive-Compulsive behaviorsDepressionSelf abusive behaviorsAggressionSleep deprivation
79 Medications Used Continued Alpha adrenergic agonistsClonidineGuanfacineMood stabilizersDepakote (Valproic acid)Tegretol (Carbamazepine)AntiopiodNaltrexone
80 Alternative Therapies unproved Gluten-Casein Free DietBased on toxicologic opioid hypothesisNutritional SupplementsBased on hypothesis that minerals and/or vitamins improve “autistic behaviors”Immune globulin therapyBased on assumption Autism is an autoimmune abnormalitySecretinIntravenous hormone that stimulates pancreas and liver to manage “autistic behaviors”ChelationBased on hypothesis that mercury exposure is cause of Autism
81 Autism and learning The child with autism can learn skills for communication, can develop the skills foremotional and social relationships, andcan learn to diminish stereotypicalbehavior. No one particular program works for all children.
82 AutismAutism is a lifelong developmental disorder.
83 Autism There is no “cure” for Autism. Prognosis is dependent on cognition and the ability to develop social skills.Early intervention is critical and optimizes treatment.
84 The following organizations can offer information and support: Autism Society of America (ASA) Woodmont Avenue, Suite 300, Bethesda, Maryland , AUTISM,National Autism Hotline, P.O. Box 507, Huntington, West Virginia , (304) , fax (304)Autism Research Institute, Adams Avenue, San Diego, California 92116, (619) , faxMAAP, More Advanced individuals with Autism, Asperger’s syndrome and Pervasive Developmental Disorder,
85 Information and Support Autism Society of Kentuckiana P.O. Box 90, Pewee Valley, KY 40056,Autism Society of the Bluegrass 243 Shady Lane, Lexington, KY , (859)Indiana Resource Center for Autism Susan Pieples, President P.O. Box 1064, Carmel, Indiana (317) ,
86 Information and Support University of Louisville Autism Center at Kosair Charities, 1405 E. Burnett Avenue, Louisville KY 40217, (502)FEAT of Louisville 1100 East Market Street Louisville KY (502)