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Prevalence of Autism Spectrum Disorders - AD, AS and PDD NOS ... Surveillance and Screening of Autism Spectrum Disorders - Early identification ...
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Autism Spectrum Disorders Richard G Jimenez MD Regional Vice President OptumHealth Behavioral Solutions United Health Group
Autism Spectrum DisordersClinical Overview • Prevalence • Etiology • Clinical Presentation • Screening and Surveillance • Management • Interventions • Passion AAP: PEDIATRICS Volume 120, Number 5, November 2007; AACAP: Practice Parameters for Autism and other PDDs, 1999
Prevalence of Autism Spectrum Disorders - AD, AS and PDD NOS • 6.6 per 1000 – CDC Autism & DD Monitoring Network – 2007 • Change in terminology • Broadened diagnostic criteria - AD • New diagnosis in DSM – PDD NOS, AS • Studies varied in case ascertainment strategies • More reliable screening tools • More proficient recognition and diagnosis • Diagnosis tied to funding – IDEA, ADA • Inclusion of other disorders AAP: PEDIATRICS Volume 120, Number 5, November 2007; AACAP: Practice Parameters for Autism and other PDDs, 1999
Etiology of Autism Spectrum Disorders • Biologically based • Neuro-developmental • Heritable • Cause: Unknown due to genetic complexity and phenotypic variation – environmental factors (“second-hit” during development – prenatal, perinatal, postnatal) • ASD genes – X, 2, 3, 7, 15 and 22 – The International Molecular Genetic Study of Autism Consortium • Idiopathic vs. Secondary to disorder known to associate • Cerebellum; Forebrain Limbic System; Frontal & Temporal Lobes; Inferior Olive and Brainstem • Increased brain volume, regional grey/white matter volumetric differences, neurotrophin differences • Neuropathologic findings suggest pathology arises in utero AAP: PEDIATRICS Volume 120, Number 5, November 2007; AACAP: Practice Parameters for Autism and other PDDs, 1999
Clinical Signs of Autism Spectrum Disorders • Social skill deficits • Restricted, repetitive, stereotypic – behavior, interests, activities • Significant language delays – AD and PDD-NOS • GDD/MR – splinter skills • Sensory Motor – hypo/hyper sensitivities • Heterogeneous phenotype with indistinct end points – especially at mild end of spectrum • Speech delays at 15-18 months prompt queries to PCP’s • Public awareness prompting earlier queries to PCP’s due to social skill deficits AAP: PEDIATRICS Volume 120, Number 5, November 2007; AACAP: Practice Parameters for Autism and other PDDs, 1999
Surveillance and Screening of Autism Spectrum Disorders - Early identification • ASD – specific surveillance and screening • Developmental surveillance at every preventive visit: • Parent concerns • Developmental history • Observations of Child • Risk and Protective Factors • Documenting findings • Use of standard screening tool at 9, 18, 24, 30 months • PCP/Parent - Not yet validated • Comprehensive Evaluation – Assessing Functioning; Categorical Diagnosis; Etiology (hx, exam, parent, lab) • Prognosis pressing parental concern – not curable/chronic illness (independent living, employment, relationships, mental health) AAP: PEDIATRICS Volume 120, Number 5, November 2007; AACAP: Practice Parameters for Autism and other PDDs, 1999
Management of Autism Spectrum Disorders • Maximizing functional independence and quality of life • Facilitating development and learning • Promoting socialization • Reducing maladaptive behaviors • Educating and supporting families • Guiding toward empirically supported interventions • Medical Therapies • Educational Strategies – behavior strategies and habilitative therapies – adaptive skills • Management of coexisting medical conditions AAP: PEDIATRICS Volume 120, Number 5, November 2007; AACAP: Practice Parameters for Autism and other PDDs, 1999
Interventions to Autism Spectrum Disorders • Early Childhood Programs – behavioral, analytic, developmental and structured teaching • 25+ hours/week, 12 months/year • low student teacher ratio • parent training • measurement and documentation of target behaviors • highly structured/predictable • generalization of skills – functional, communication, social • reduction of maladaptive behavior • readiness/academic skills • Medical Management – Sz, GI, Sleep, Comorbid conditions • Family Support AAP: PEDIATRICS Volume 120, Number 5, November 2007; AACAP: Practice Parameters for Autism and other PDDs, 1999
Unproven Therapies for Autism Spectrum Disorders • Applied Behavioral Analysis • Sensory Integration Therapy • Touch Therapy • Music Therapy • Auditory Integration Therapy • Hormone Therapies • Immunologic Therapies • Anti-Yeast Therapies • Vitamin Therapies • Diet Therapies • Hippotherapy • Chelation Therapy AAP: PEDIATRICS Volume 120, Number 5, November 2007; AACAP: Practice Parameters for Autism and other PDDs, 1999
Passion in Autism Spectrum Disorders • Life long disability in a child • More common than Pediatric: Cancer, Diabetes and AIDS – combined • Indiscriminate of Race, Ethnicity, Social Group • Fastest growing DD in the USA • Est. costs $35 billion per year - growing • Receives less funding than less prevalent childhood illnesses • No cure • Public awareness • Advocacy AAP: PEDIATRICS Volume 120, Number 5, November 2007; AACAP: Practice Parameters for Autism and other PDDs, 1999
Appendix Subspecialty Society Guideline Recommendations
Subspecialty Society Guideline Recommendations: Scope of Services 0 – 3 yo • Early and Periodic Screening, Diagnosis and Testing (EPSDT) exam • Comprehensive diagnostic evaluation • Audiological evaluation • Genetic assessment • Lead screening • Neurological assessment • Psychiatric assessment • Psychometric testing • Individualized Family Service Plan (IFSP) development • Home-based/child care-based services • Psychosocial skills training • Communication skills • Behavioral Modification • Audiological services • Routine, periodic physical examination • Specialist evaluation (as needed) • Care coordination and oversight by an experienced provider (physician) • Re-evaluation of progress in developmental capabilities and behavioral changes AAP: PEDIATRICS Volume 120, Number 5, November 2007; AACAP: Practice Parameters for Autism and other PDDs, 1999
Subspecialties Society Guideline Recommendations: Scope of Services 3+ yo • Individualized Education Program (IEP) Plan • School-based services • The Individuals with Disabilities Education Act (IDEA) guarantees the right of students with disabilities to a free and appropriate education in the “least restrictive” possible setting for persons from 3 to 21 years of age (Mandlawitz, 2005). Federal monies have been allocated to the states to build these services • Communication skills • Social Interactive skills • Activities of daily living skills • Medical-based services • Basic Behavioral Health Services • Pharmacotherapy • Audiological services • Occupational services • Behavioral modification • Social interactive skills • Routine, periodic physical examination • Specialist evaluation (as needed) • Care coordination and oversight by an experienced provider (physician) • Re-evaluation of progress in developmental capabilities and behavioral changes AAP: PEDIATRICS Volume 120, Number 5, November 2007; AACAP: Practice Parameters for Autism and other PDDs, 1999