Autism Spectrum Disorders (ASDs): Perspectives on Surveillance, Research,

and Early Identification.

Autism Spectrum Disorders (ASDs): Perspectives on Surveillance, Research,

and Early Identification.

Marshalyn Yeargin-Allsopp, M.D.

National Center on Birth Defects and Developmental Disabilities Centers for Disease Control and Prevention (CDC)

Atlanta, GA

The First International Autism SummitRenaissance Cleveland Hotel

Cleveland Ohio, October 10-12, 2008

OverviewOverview

Surveillance: How common is Autism?

Current Prevalence Trends over time CDC’s Role

Research: What are potential “Causes”

Biology Genetics Gene/Environment

Interaction Studies to Measure

Impact• SEED• NCS

Identification: Learn the Signs Implementing AAP Recommendations Role of Early Intervention

Treatments: Act Early Proposed “cures” Behavioral Intervention

What is Autism?What is Autism?

Autism is…Autism is…

Developmental disability not present at birth

Different brain structure complex genetic interaction + ???

Complex disorder many areas affected

Wide range of impairment mild to severe across areas

Autism Spectrum Disorders (ASD)Autism Spectrum Disorders (ASD)

Pervasive Developmental Disorders (PDD)PDD = an “umbrella category”

AutismAtypical Autism (PDD-NOS)Asperger’s DisorderChildhood Disintegrative DisorderRett Syndrome

Pervasive Developmental Disorders (APA, 1994)

Pervasive Developmental Disorders (APA, 1994)

Autism: Communication, Social, Behaviors/Interests PDD-NOS: Atypical autism Asperger’s: Social, Behaviors/Interests, no significant

language or cognitive delay Rett: females, deceleration, hand use CDD: normal development & significant loss of skills

Surveillance:How common is Autism?

Surveillance:How common is Autism?

Comparison of Autism Prevalence Rates

0.00

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1960 1970 1980 1990 2000 2010

Year

Au

tism

Pre

vale

nce

R

ate

(per

10,

000)

Kanner

Rutter

DSM-III

DSM-IIIR

ICD-10

DSM-IV

01 02

03

04

06

0507 0809

1110 13

1215 17

14

1618 19

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2225

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2830

33

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Autism prevalence trend studiesAutism prevalence trend studies

France – stable Sweden – increase in rates of autism and

severe MR or normal intelligence England, Wales – increase attributed to

improved recognition with largest increases in ASD (not autistic disorder)

Australia – increase in “referrals” USA – increase in “research-identified” ASD

Challenges of Interpreting ASD Prevalence Trends

Challenges of Interpreting ASD Prevalence Trends

Studies from different populations Different methods between studies Changing diagnostic criteria Expansion of autism to a “spectrum” of

disorders Increasing recognition that ASDs co-occur

with other disorders Changes in level of awareness and use of

diagnosis over time

What is CDC’s Role in Autism?What is CDC’s Role in Autism?

1968: Surveillance for Birth Defects

1979-80: Request for presentation of data on ID and CP

1981: EIS Officer assigned to Birth Defects Branch to study DDs

1981-83: Pilot study of MR in DeKalb County, GA

CDC’s Efforts in DD Surveillance: The Early Years

CDC’s Efforts in DD Surveillance: The Early Years

Objectives: Develop methods for population-based surveillance of DDs and estimate prevalence rates of intellectual disability, cerebral palsy, visual impairment, hearing loss, and epilepsy.

1984-1990: Metropolitan Atlanta Developmental Disabilities Study (MADDS)

1984-1990: Metropolitan Atlanta Developmental Disabilities Study (MADDS)

Who: Ten-year old children in 1985, 1986, 1987

Where: Clayton, Cobb, DeKalb, Fulton, and Gwinnett

Developmental Disabilities Monitored: Cerebral Palsy, Mental Retardation,

Hearing Impairment, Visual Impairment, and Epilepsy

Methods: Population-based, active record review at multiple sources

MADDS Study Population and MethodsMADDS Study Population and Methods

Mental Retardation

Total

1074

Cerebral Palsy

Visual Impairment

Hearing Impairment

204

61

100 1.1

0.7

2.3

12.0 3.1-43.6

N Rate Previous StudiesEstimates from

2.0-3.0

0.3-0.6

0.6-2.3

Epilepsy 538 6.0 4.0-9.0

MADDS: Prevalence of Five Developmental Disabilities Per 1000 Ten-Year-Old Children, 1985-1987

MADDS: Prevalence of Five Developmental Disabilities Per 1000 Ten-Year-Old Children, 1985-1987

Brick Township Prevalence InvestigationBrick Township Prevalence Investigation Study Characteristics:

Children 3-10 years of age (N=8,896) Residence in 1998 was Brick Township

Case Identification: Schools, special programs Physician/other diagnosticians Parent groups/self referrals

Case Verification Special examination- diagnosis of autism: ADOS Review of available records

Brick Township, New Jersey:

Prevalence of ASD, 3-10 Year Old Children

Brick Township, New Jersey:

Prevalence of ASD, 3-10 Year Old Children

Prevalence 95% CI Rate per 1,000

__________________________________________ Autism SpectrumDisorders 60/8,896 5.1 – 8.7 6.7

Autistic Disorder 36/8,896 2.8 – 5.6 4.0

Bertrand J et al. (2001) Prevalence of Autism in a United States Population: The Brick Township, New Jersey, Investigation. Pediatrics, 108(5): 1155-1161.

1991-Present: Metropolitan Atlanta Developmental Disabilities Surveillance Program (MADDSP)1991-Present: Metropolitan Atlanta Developmental Disabilities Surveillance Program (MADDSP)

Expanded upon MADDS methods• Five counties• Active record review at multiple sources

1991-1994: • 3-10 year olds for ID, CP, HL, and VI

1996: • 8-year-olds for ID, CP, HL, VI• Autism added, 3-10 year olds

2000, 2002, 2004, 2006, 2008-ongoing:• 8-year-olds for ASD, ID, CP, HL, and VI

MADDSP Data SourcesMADDSP Data Sources GA Department of Education (ED)

Metro Atlanta school systems – special education

State schools Regional psychoeducational programs

GA Department of Human Resources (DHR) Division of Public Health/CMS Division of MH/DD/AD

Pediatric hospitals and associated clinics Diagnostic centers Other clinical providers

Washington

Montana

Oregon

Nevada

California

Utah

ArizonaNew Mexico

Colorado

Idaho

Wyoming

North Dakota

South Dakota

Minnesota

IowaNebraska

Kansas

TexasFlorida

Mississippi

Louisiana

Alabama

Georgia

South Carolina

North Carolina

Virginia

Maine

New York

Michigan

Wisconsin

Oklahoma

Missouri

Arkansas

Tennessee

Kentucky

IllinoisIndiana

Michigan

Ohio

West Virginia

DC

MarylandDelaware

New Jersey

Vermont

Rhode IslandConnecticut

New Hampshire

Massachusetts

Alaska

Hawaii

Pennsylvania

U.S. Virgin Islands

Puerto Rico

Guam

CDC

11 ADDM Sites 2006-2010 (10+CDC)

16 ADDM Sites 2001-2006 (15 +CDC)

Autism and Developmental Disabilities Monitoring (ADDM) Network

Autism and Developmental Disabilities Monitoring (ADDM) Network

+

Goals: Accurate and comparable population-based

estimates of the prevalence of Autism Spectrum Disorder (ASD) in selected regions of U.S.

Describe the characteristics of children with Autism

Examine trends in prevalence

ADDM 2002 Study Year: 4 out of 14 sites with Health Source Access Only

ADDM 2002 Study Year: 4 out of 14 sites with Health Source Access Only

Site Area 8-year-olds in Population in 2002

1. Alabama 32 counties 35,472

2. Missouri 5 counties 28,049

3. Pennsylvania 1 county 21,061

4. Wisconsin 10 counties 35,126

2002 sites continued…

ADDM 2002 Study Year: 10 out of 14 sites with Health and Education Source Access

ADDM 2002 Study Year: 10 out of 14 sites with Health and Education Source Access

Site Area 8-year-olds in Population in 2002

5. Arkansas Statewide 36,472

6. Arizona 1 county 45,113

7. Colorado 2 counties 11,020

8. Georgia 5 counties 44,299

9. Maryland 5 counties 29,722

10. New Jersey 4 counties 29,748

11. North Carolina 10 counties 20,725

12. South Carolina 23 counties 23,191

13. Utah 3 counties 26,108

14. West Virginia Statewide 21,472

14 site total 407,578

Approximately 10% of US

population of 8-year-olds

ADDM 2002 ASD Prevalence ResultsADDM 2002 ASD Prevalence Results

The overall ASD prevalence per 1,000 8-year-olds ranged from 3.3 (AL) to 10.6 (NJ).

12 of 14 sites with total ASD prevalence between 5.2 and 7.6 per 1,000 children.

The weighted average prevalence was 6.6 per 1,000 across all sites. The weighted average was 5.1 for sites with access to

health data only and 7.2 for health + education

Prevalence ConclusionsPrevalence Conclusions Results from the largest US multi-site collaboration to

monitor ASDs underscore that ASDs are conditions of urgent public health concern.

For the majority of communities represented, ASD prevalence ranged from 5.2-7.6 per 1000 children

Some variation ASD prevalence significantly lower in 1 site (AL) and higher

in 1 site (NJ). Average of 1 in 150 children

(range from about 1 in 100 to 1 in 300)

How many children in the U.S. have an ASD? Estimated: 560,000 children between 0-21 years

Research:Exploring suspected “causes” of

autism…

Research:Exploring suspected “causes” of

autism…

Dramatic secular trend in ASD prevalence

shown in administrative and

research data

Source: DDS. Autism Spectrum Disorders – Changes in the California Caseload. An update: 1999 through 2002; April 2003

Real RiskChange

ChangingDiagnosticTendency

vs.

EVIDENCE?

Persons with Autism in California Department of Developmental Services Client Database by Year

Lingering uncertainty around causes of increasing secular trend in autism prevalence

Lingering uncertainty around causes of increasing secular trend in autism prevalence

Slide courtesy of is Craig Newschaffer

EtiologySupport for biological mechanism:

EtiologySupport for biological mechanism:

MR in 70-90% (older studies)

EEG abnormalities Abnormalities of

brain amygdala hippocampus septum mammillary bodies cerebellum

Increased head circumference

Large, heavy brain at autopsy

Abnormalities from chromosomal studiese.g., duplication/deletion

Evidence that abnormality occurs 20-24 days postconception

Etiology Evidence that Autism is a genetic

disorder:

Etiology Evidence that Autism is a genetic

disorder:

Recurrence rate in families• 75-fold increased risk in siblings• 10-40% increased prevalence of

ASD and related disorders in families

Twin Studies• 75-90% concordance in

monozygotic twins• 5-10% concordance in same-sex

dizygotic twinsSteffenburg S, Gillberg C, Hellgren L, Andersson L, Gillberg IC, Jakobsson G, Bohman M. A twin study of autism

in Denmark, Finland, Iceland, Norway and Sweden. J Child Psychol Psychiatry. 1989 May; 30(3): 405-16.

Can lead to overestimation of heritability

Hampers the ability of genetic linkage and association studies to find genes

Gene-environment interaction is one potential source of complexity

Slide courtesy of is Craig Newschaffer

Measuring the Impact Measuring the Impact

CDC’s Study to Explore Early Development

National Children’s Study

Washington

Montana

Oregon

Nevada

California

Utah

ArizonaNew Mexico

Colorado

Idaho

Wyoming

North Dakota

South Dakota

Minnesota

IowaNebraska

Kansas

TexasFlorida

Mississippi

Louisiana

Alabama

Georgia

South Carolina

North Carolina

Virginia

Maine

New York

Michigan

Wisconsin

Oklahoma

Missouri

Arkansas

Tennessee

Kentucky

IllinoisIndiana

Michigan

Ohio

West Virginia

DC

MarylandDelaware

New Jersey

Vermont

Rhode IslandConnecticut

New Hampshire

Massachusetts

Alaska

Hawaii

Pennsylvania

U.S. Virgin Islands

Puerto Rico

Guam

CADDRE grantees, including Data Coordinating Center

CDC, 6th CADDRE site

Main research areas ASD phenotypic variation

Subgrouping for etiologic analysis Infection and immune function, including

autoimmunity Reproductive and hormonal features Gastrointestinal features Genetic features Sociodemographic features

Study to Explore Early Development (SEED)

Study to Explore Early Development (SEED)

The National Children’s StudyThe National Children’s Study

100,000 children across the United States Followed from before birth until age 21 Looking at environmental influences

With the goal of improving the health

and

well-being of children.

Families who participate in the National Children’s Study will come from 105 Study locations (counties or groups of counties) across the United States.

OHIO:A -Cuyahoga County, OHB -Lorain County, OH ( To become active 2008-2010)

The National Children’s Study: Locations

The National Children’s Study: Locations

Identification: Learn the SignsIdentification:

Learn the Signs

Time Magazine; May 6, 2002

www.cdc.gov/actearly

Learn the Signs. Act Early.Learn the Signs. Act Early.

AAP Algorithm for Developmental Surveillance and Screening – July 2006

AAP Algorithm for Developmental Surveillance and Screening – July 2006

The AAP Clinical Reports recommend:The AAP Clinical Reports recommend:

Conduct ASD surveillance at all preventative well child visits

Screen all children at 18 and 24 months and when surveillance reveals a concern for ASD

Increased vigilance in younger siblings with a 10x increased risk

Strategies to care for children with ASD within a Medical Home

Introduction

Identification Algorithm Surveillance tools Screening tools

Referral Forms, sample letters and

coding information Physician Fact Sheets

Strategies for management of common co-morbidities

Family Handouts Tips for parents

Treatment of Autism:Act Early

Treatment of Autism:Act Early

Early…Early…

ASDs can often be detected as early as 18 months

Children with an autism spectrum disorder might:

Not play "pretend" games (pretend to

"feed" a doll) Not point at objects to show interest

(point at an airplane flying over) Not look at objects when another

person points at them Have trouble relating to others or not

have an interest in other people at all

Intervention…Intervention…

Research shows that early intervention can greatly improve a child’s development. Behavioral and Educational Interventions Complementary and Alternative Medicine Dietary Changes Medications

1] Handleman, J.S., Harris, S., eds. Preschool Education Programs for Children with Autism (2nd ed). Austin, TX: Pro-Ed. 2000.  [2] National Research Council. Educating Children with Autism.  Washington, DC: National Academy Press, 2001.

Sorting Through the “Breakthroughs” in Autism (adapted from D. Twachtman, Ph.D., CCC-SLP)

Sorting Through the “Breakthroughs” in Autism (adapted from D. Twachtman, Ph.D., CCC-SLP)

Promise of a “cure”? Effective for everyone and any

problem? Quality of the evidence for validity and

effectiveness? Emotional and financial cost;

benefit:cost ratio Harmful to the child? Emotional campaign and advertising? Are treatment gains truly meaningful?

Proposed “Cures”Proposed “Cures” Separation from parents Holding therapy Yeast Free Diet Dietary restriction: Gluten/Casein Free Auditory Training Vision therapy (prism glasses) Chelation Vitamin Therapy (B6, C, B12) Secretin Magnetic Therapy Intravenous immunoglobulins Facilitated Communication Sensory Integration Probiotics Behavioral Intervention

Meantime, keep working towards the goals…

Meantime, keep working towards the goals…

Understand the genetics of autism…

Understand the environmental influences for autism…

Keep working towards the goals…Keep working towards the goals…

Keep Counting…

Keep Searching…

Keep Treating

And…And…

Thank You!Thank You!For more information on CDC’s activities and other information related to autism:

www.cdc.gov/autism

The findings and conclusions in this presentation are those of the authors and do not necessarily represent the views of the

Centers for Disease Control and Prevention.

AcknowledgementsAcknowledgements Craig Newschaffer, Professor and

Chairman of the Department of Epidemiology and Biostatistics at the Drexel University School of Public Health

Aimee Anido, Project Coordinator Alana Aisthorpe, Abstractor Andrew Autry, Health Scientist Rachel N. Avchen, Epidemiologist Jon Baio, Behavioral Scientist Claudia M. Bryant, Abstractor Nancy Doernberg, Public Health

Analyst Shryl Epps, Abstractor Susie Graham, Project Coordinator Nancy Hobson, Clinician Reviewer Marques Harvey, Project Coordinator Lekeisha Jones, Clinician Review

Coordinator Rita Lance, Application Developer Charmaine MeKenzie, Research

Assistant

Catherine Rice, Behavioral Scientist Matthew Rudy, Abstractor Diana Schendel, Epidemiologist Darlene Sowemimo, Abstractor Melody Stevens, Community

Liaison Ignae Thomas, Abstractor Kim Van Naarden -Braun,

Epidemiologist Victoria Washington, Program

Assistant Melissa Talley, Abstractor Lisa Wiggins, Health Scientist Susan Williams, Programmer Joanne Wojcik, Public Health

Analyst Anita Washington, Project

Coordinator Travis Williams, Abstractor