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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


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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


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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


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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


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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


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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


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Management of Autism Spectrum Disorders Early identification

  • 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


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Interventions to Autism Spectrum Disorders Early identification

  • 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


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Unproven Therapies for Autism Spectrum Disorders Early identification

  • 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


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Passion in Autism Spectrum Disorders Early identification

  • 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


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Appendix Early identification

Subspecialty Society Guideline Recommendations


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Subspecialty Society Guideline Recommendations: Early identificationScope 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


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Subspecialties Society Guideline Recommendations: Early identificationScope 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


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