DSM-IV Classification System

Transcription

1 DSM-IV Classification System Pervasive Developmental s Recognizing autism spectrum disorders: What leaders in neurodevelopmental disabilities should know Autism w/ ID Autistic HFA Rett's Childhood Disintegrative Asperger's PDD- NOS Susan Faja, PhD Senior Fellow & Acting Instructor DSM-IV Criteria for Autism (DSM-IV ) 3 domains of impairment: Reciprocal social interaction (2 or more symptoms) Language and communication (1 or more symptoms) Restricted, repetitive, and stereotyped behaviors, interests, and activities (1 or more symptoms) Delays/abnormal functioning before age 3 years. Not better accounted for by Rett s or CDD. CDC estimates that 1 in 88 children in the US have an Affects 3-4 males to 1 female 1/54 boys 1/252 girls is found in all racial, ethnic, and socioeconomic groups Intelligence and Data from the ADDM sample of 8 year olds Autism is very common Approximately 40% of children with autism also have intellectual disability (CDC/ADDM, 2009) Higher rates of ID associated with Autistic 1

2 Increasing rates of children with are enrolled in special education Is the rate of increasing? Changes difficult to interpret: Earlier diagnosis Changing diagnostic criteria Increased awareness (media coverage) Financial incentives (and greater access to services) Increase in developmental disabilities in general Changes in epidemiological methodology and reporting procedures These factors do not fully account for increase Social Skills Less social/emotional reciprocity Less sharing interests/ enjoyment Reduced friendships Poor non-verbal social behaviors Repetitive Behavior Repetitive movements Need for ritual/routine Interests of unusual intensity or focus Preoccupation w/ parts Communication Delayed language Trouble w/ reciprocal conversations Repetitive/unus. speech Reduced creativity in play What s the difference between autistic disorder and Asperger s? Asperger s (DSM-IV ) A form of high-functioning autism in which early language delay is not present Cognitive skills average to above average Key feature: impairment in social functioning Also: restricted range of interests & activities Often detected later in development Proposed DSM-V Criteria Autism Spectrum () Proposed DSM-V criteria 1. Clinically significant, persistent deficits in social communication & interactions ALL of the following: a. Deficits in nonverbal & verbal communication used for social interaction b. Lack of social reciprocity c. Failure to develop/maintain peer relationships appropriate to devt. level 2. Restricted, repetitive patterns of behavior, interests, and activities at least TWO of the following: a. Stereotyped or repetitive speech, motor movements, or use of objects b. Excessive adherence to routines and ritualized patterns of behavior c. Restricted, fixated interests that are abnormal in intensity/focus d. Hyper-/hypo-reactivity to sensory input or unusual interest in sensory aspects of environment 3. Symptoms must be present in early childhood (but may not become fully manifest until social demands exceed limited capacities) 2

3 Sometimes children can have more than an (common comorbidity) * Fragile X Syndrome * Specific Language Impairment (SLI) * Anxiety disorders * Depression * ADHD * Tic disorders * Epilepsy/Seizure disorders * Intellectual Disability Related Behaviors Sensory issues Self-injurious behaviors Eating and sleep issues Every person with is unique Early Risk Markers Presentation may differ with regard to: Decreased response to name Age of onset and/or detection Specific symptoms IQ and adaptive functioning Less eye contact Less pointing/gestures Outcome Delayed language Developmental changes in symptom expression Less social interaction (lack of patty-cake, peek-a-boo) In common: social impairment Loss of skills Failure to make developmental gains Red Flags for Autism in Infancy Before 6 months Looking at faces Smiling at others Cooing Babies should be 6-12 months Responding to name Babbling Playing social games Displaying bright affect Ozonoff 2012 (presentation) months Pointing and showing Using single words Using gestures Imitating Showing interest in other children Screening Tools for Infants Broad-band screeners Ages and Stages Questionnaire 4-60 mos Infant-Toddler Checklist (ITC) 6-24 mos Parent Evaluation of Developmental Status (PEDS) Birth-8 years Autism-specific screeners Infant-Toddler Checklist (ITC) 6-24 mos Modified-CHAT (M-CHAT) mos (CHAT-23 extends up to 86 mos) Early Screening for Autistic Traits (ESAT) mos First Year Inventory (FYI) 12 mos Ozonoff 2012 (presentation) 3

4 Then what? Provide parent education Comprehensive evaluation (history, physical exam, developmental exam, review of DSM criteria, assessment of family knowledge, lab exam for known etiology) Early intervention/early childhood education services Audiology Exam Resources Does My Child have Autism? A Parent s Guide to Early Detection and Intervention Stone & DiGeronimo (2006) First 100 Days kit Learn the Signs ad campaign Video Glossary Free screening kit for pediatricians Ozonoff 2012 (presentation) Diagnostic assessment of Medical & Developmental history Parent interview detailed with focus on early development & social skills (ADI-R) Observation of social/communication skills, play & unusual behaviors Semi-structured play with examiner (ADOS) Parent-child interaction Peer interaction (School observation) Cognitive assessment Evaluate social/communication skills relative to test scores No profile is typical of Higher functioning children at risk for LDs Genetic & Neurological assessment Average age of first parental concern is months Percent distribution of age of first diagnosis among children with special health care needs and in US From CDC/NCHS Survey of Pathways to Diagnosis and Services Early Comprehensive Behavioral Interventions Treatment Intensity Data Methods Intervention options Many choices with real, ideological differences Varying scientific support Current research focused on determining which treatments work best for which children Consider resources / risks Denver Model* TEACCH 22 hr over 18 mos. Discrete hrs for at trials/lovaas least 2 yrs Pivotal Response Training NA Improved growth rate in language and cognition Increased psychoeducational skills. Well Established IQ gains, better visuo-spatial skills, & school placement Promising increased language responses, fewer disruptive behaviors, more initiation (from Faja & Dawson, 2006, see also Rogers & Vismara, 2011) Social/developmental emphasis, relationships, ABA Use of visual guides, focus on educational environment ABA isolation of component skills, behavioral, 1-on-1 ABA naturalistic, focus on key skills that lead to efficient acquisition of other skills 4

5 features of psychosocial treatments for young children with comprehensive curriculum addressing all symptom domains as well as challenging behaviors deliberately structured & supportive environment for initial learning, and scaffolding to generalize skills to other contexts predictability and routine inclusion of family % children with special health care needs & who use selected care services intensity of intervention - National Research Council: 25 hrs/week x 2 years preparation for school From CDC/NCHS Survey of Pathways to Diagnosis and Services, 2011 % children 6-17 yrs with special health care needs & who use selected medication types (US, 2011) Diagnosis and assessment Etiology Medical issues Intervention plan Referrals & resources Continuity of Care Infant- Preschool Early intervention Consultation to Birth-to-3 and preschool Consultation to Primary Care Physician Transition Planning School Age On-going behavior support Social skills training Consultation regarding educational plan Transition planning Adolescence Peer relationships, social skills, sexuality Psychiatric and other medical issues Educational consultation Vocational Transition planning From CDC/NCHS Survey of Pathways to Diagnosis and Services, 2011 What causes? Multiple genetic and environmental risks that likely follow this pattern: Risk factors Risk processes Outcome Evidence of genetic risk: Twin studies Identical Twins Fraternal Twins Susceptibility genes Altered Neural Circuitry Full autism syndrome Environmental risk factors Altered patterns of interaction between child & environment Broader autism phenotype Share ~ 100% of genes Share ~ 50% of genes (about the same as siblings) Faja & Dawson (in press) 5

6 Twin studies and the heritability of Infant siblings further inform our understanding of and genetic risk SIBLING STUDIES % of twins with trait 100 PREVIOUS TWIN STUDIES MZ twins DZ twins Broader Phenotype Autism % of twins with trait TWIN STUDY MZ twins DZ twins Folstein & Rutter, 1977; Bailey et al, 1995 Hallmeyer et al, 2011 Autism 18.7 % recurrence risk 32.2% recurrence risk Ozonoff et al, 2011 Genetic factors in Case studies show some families have unusually high rates of 1/20 families are multiplex (i.e., 2 children with ) 90% of autism cases have no specific identifiable genetic cause 5-10% of cases are a result of a known genetic disorder (e.g., Fragile X, Tuberous sclerosis, etc.) May be multiple genetic pathways that confer risk for the autism phenotype. CNV Rare Variants CNV The Autisms Rare, highly penetrant variations variations with modest impact Environmental factors Protective factors Geschwind 2009 Further Reading Johnson, C. P., Meyers, S. M., & the Council on Children with Disabilities. (2007). Identification and evaluation of children with autism spectrum disorders. Pediatrics, 120, Myers, S. M., Johnson, C. P. & the Council on Children with Disabilities. (2007). Management of children with autism spectrum disorders. Pediatrics, 120, Soares, N. S. & Patel, D. R. (2012). Office screening and early identification of children with autism. Pediatrics Clinics of North America, 59,