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AUTISM SPECTRUM DISORDER
Georgina Peacock, MD, MPH, FAAP
GCAN
December 5, 2013
Autism
• Autism first described by psychiatrist Leo Kanner
in 1943 in the US
• Hans Asperger described “autistic
psychopathology” in 1944 in Austria
(work later translated in the 1980‟s to recognize
„Asperger syndrome‟)
• Autism was once seen as a rare condition

Learn the Signs. Act Early.

www.cdc.gov/actearly
• About 4 million babies born in
the US each year
• 1 in 6 children will have a
developmental disability
• 1 in 88 with autism*

(Boyle et al., 2011; CDC, 2012)

* Autism Spectrum Disorders (ASDs)
Public Health Concern
 Children with autism or developmental delays are at
increased risk for poor outcomes

 Early intervention can significantly impact acquisition of
important lifeskills
 Many children with developmental disabilities are not
identified until kindergarten or later
–
–

Only 30% of children with DD identified before Kindergarten (Palfrey, 1987)
Only 18% of children with ASD identified by age 3 years (CDC, ADDM 2012)

 Children from low income and/or minority families
experience longer delays in receiving services
19 month old twins
Autism
•

Developmental disability
•
•

•

Complex disorder
•

•

Not recognizable at birth
Typically lifelong

Many areas affected

Wide range of impairment
•

Mild to severe across areas

Learn the Signs. Act Early.

www.cdc.gov/actearly
ASD Characteristics Vary
Social Interaction
Aloof-----------------Passive-------------Active but odd

Communication
Nonverbal----------------------------------------------Verbal

Behaviors
Intense-----------------------------------------------------Mild

Measured Intelligence
Severe---------------------------------------------------Gifted

Adaptive Functioning
Low-------------------------Variable----------High in areas
Pervasive Developmental Disorders (PDDs) to
Autism Spectrum Disorder (ASD)

DSM-IV,TR
1994, 2000

DSM-5

May 2013

Pervasive Developmental Disorders:

Autistic disorder
Asperger’s
PDD-NOS

Autism Spectrum
Disorder

Retts
CDD

Diagnostic and Statistical Manual (DSM), American Psychiatric Association
Changes from DSM-IV to DSM-5
DSM-IV

DSM-5
Autism Spectrum Disorder 299.0 (ICD10 F84)
A. Persistent deficits in social communication and
interactions
1. Social-emotional reciprocity
2. Nonverbal communication behaviors used for
social interactions;
3. Developing, maintaining, and understanding
relationships
Autism Spectrum Disorder 299.0 continued
B. Restricted, repetitive patterns of behavior, interests, and
activities (at least TWO of the following):
1. Stereotyped or repetitive motor movements, use of objects,
or speech
2. Insistence on sameness, inflexible adherence to routines, or
ritualized patterns of verbal or nonverbal behavior
3. Highly restricted, fixated interests
4. Hyper- or hypo-reactivity to sensory input or unusual interest
in sensory aspects of environment
Autism Spectrum Disorder 299.0 continued
C. Symptoms must be present in the early
developmental period (but may not become fully
recognized until social demands exceed limited
capacities)
D. Symptoms cause clinically significant impairment in
social, occupational, or other important areas of
current functioning
Diagnostic challenges
ASD may be diagnosed with other overlapping disorders such as ADHD,
Language Impairments

Language
Disorders

Learning
Disabilities

ADHD

Intellectual
Disability

ASD

Anxiety

Etc…

ADOS-2 trainer’s slides
• What happens to my child’s
diagnosis? Was the dx wrong?
• Do we need to go through the
diagnostic process again?
• Will services change?

• What happens to me?
• I am an Aspie!
• Do I have to go through more
evaluation?
• Will services change?

People with
Autism

Families

• How does this change my
practice?
• How to I learn the new
concepts?
• New training, tools ($)?

• How will I define my
samples? Comparability?
• Is this valid and reliable?
• Impact on research
funding?

• What does this mean for
current policies and laws?
• What are the costs?
• Personnel needs?

Clinical and
Educational
Professionals

Researchers

Policy Makers
Autism Spectrum Disorder

ROLE FOR EARLY IDENTIFICATION
(CDC, 2012)

• Most children identified with ASD had a
developmental concern documented in their
evaluation records before the age of 2 years, but
• Diagnosis often not until after age 4 years

• 82% of children with ASD did not have a
diagnosis by age 3 years
• 21% of children with ASD did not have a
diagnosis by age 8 years
Significant lag exists between
concern and diagnosis
Learn the Signs. Act Early.
Goal: To improve early
identification of autism and
other developmental disabilities
so children and their families
can get the services and support
they need
Learn the Signs. Act Early.
 Learn the Signs:
 Resources for monitoring key
developmental milestones among ALL
children
 “Red flags” that can indicate concern

 Act Early:





Discuss Concerns
Proactive Screening
Refer for evaluation and services
Find resources for early
intervention and family support
•

Well-child visits for ALL children should include:
Developmental Screening
•

Use of a validated screening tool at
9, 18, 24 or 30 months

•

ASD-specific screening
18 and 24 or 30 months

• If concern identified:
1. Refer for intervention
2. Refer for evaluation
AAP Policy Statement (2006)
% Reported Developmental Monitoring and/or
Screening

Monitoring ONLY
36.9
42.0

Monitoring AND
Screening
Screening ONLY
Neither

5.7

15.4

National Survey of Children’s Health (NSCH) 2007; ages 10-47 months

Preliminary
results, not for
Acknowledgements
• Catherine Rice
• Learn the Signs. Act Early Team
Thank you!
Georgina Peacock
gpeacock@cdc.gov
New Diagnosis =
Social (Pragmatic) Communication
Disorder
• A Communication Disorder
• Impairments in use of social
communication
• No Restricted and Repetitive
Behaviors like ASD
– How is SCD similar and
different from Pragmatic
Language
Disorder, Nonverbal Learning
Disability, and PDD-NOS?

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VarSeq 2.6.0: Advancing Pharmacogenomics and Genomic Analysis
 

Autism Spectrum Disorder

  • 1. AUTISM SPECTRUM DISORDER Georgina Peacock, MD, MPH, FAAP GCAN December 5, 2013
  • 2. Autism • Autism first described by psychiatrist Leo Kanner in 1943 in the US • Hans Asperger described “autistic psychopathology” in 1944 in Austria (work later translated in the 1980‟s to recognize „Asperger syndrome‟) • Autism was once seen as a rare condition Learn the Signs. Act Early. www.cdc.gov/actearly
  • 3. • About 4 million babies born in the US each year • 1 in 6 children will have a developmental disability • 1 in 88 with autism* (Boyle et al., 2011; CDC, 2012) * Autism Spectrum Disorders (ASDs)
  • 4. Public Health Concern  Children with autism or developmental delays are at increased risk for poor outcomes  Early intervention can significantly impact acquisition of important lifeskills  Many children with developmental disabilities are not identified until kindergarten or later – – Only 30% of children with DD identified before Kindergarten (Palfrey, 1987) Only 18% of children with ASD identified by age 3 years (CDC, ADDM 2012)  Children from low income and/or minority families experience longer delays in receiving services
  • 5. 19 month old twins
  • 6. Autism • Developmental disability • • • Complex disorder • • Not recognizable at birth Typically lifelong Many areas affected Wide range of impairment • Mild to severe across areas Learn the Signs. Act Early. www.cdc.gov/actearly
  • 7. ASD Characteristics Vary Social Interaction Aloof-----------------Passive-------------Active but odd Communication Nonverbal----------------------------------------------Verbal Behaviors Intense-----------------------------------------------------Mild Measured Intelligence Severe---------------------------------------------------Gifted Adaptive Functioning Low-------------------------Variable----------High in areas
  • 8. Pervasive Developmental Disorders (PDDs) to Autism Spectrum Disorder (ASD) DSM-IV,TR 1994, 2000 DSM-5 May 2013 Pervasive Developmental Disorders: Autistic disorder Asperger’s PDD-NOS Autism Spectrum Disorder Retts CDD Diagnostic and Statistical Manual (DSM), American Psychiatric Association
  • 9. Changes from DSM-IV to DSM-5 DSM-IV DSM-5
  • 10. Autism Spectrum Disorder 299.0 (ICD10 F84) A. Persistent deficits in social communication and interactions 1. Social-emotional reciprocity 2. Nonverbal communication behaviors used for social interactions; 3. Developing, maintaining, and understanding relationships
  • 11. Autism Spectrum Disorder 299.0 continued B. Restricted, repetitive patterns of behavior, interests, and activities (at least TWO of the following): 1. Stereotyped or repetitive motor movements, use of objects, or speech 2. Insistence on sameness, inflexible adherence to routines, or ritualized patterns of verbal or nonverbal behavior 3. Highly restricted, fixated interests 4. Hyper- or hypo-reactivity to sensory input or unusual interest in sensory aspects of environment
  • 12. Autism Spectrum Disorder 299.0 continued C. Symptoms must be present in the early developmental period (but may not become fully recognized until social demands exceed limited capacities) D. Symptoms cause clinically significant impairment in social, occupational, or other important areas of current functioning
  • 13. Diagnostic challenges ASD may be diagnosed with other overlapping disorders such as ADHD, Language Impairments Language Disorders Learning Disabilities ADHD Intellectual Disability ASD Anxiety Etc… ADOS-2 trainer’s slides
  • 14. • What happens to my child’s diagnosis? Was the dx wrong? • Do we need to go through the diagnostic process again? • Will services change? • What happens to me? • I am an Aspie! • Do I have to go through more evaluation? • Will services change? People with Autism Families • How does this change my practice? • How to I learn the new concepts? • New training, tools ($)? • How will I define my samples? Comparability? • Is this valid and reliable? • Impact on research funding? • What does this mean for current policies and laws? • What are the costs? • Personnel needs? Clinical and Educational Professionals Researchers Policy Makers
  • 15. Autism Spectrum Disorder ROLE FOR EARLY IDENTIFICATION
  • 16. (CDC, 2012) • Most children identified with ASD had a developmental concern documented in their evaluation records before the age of 2 years, but • Diagnosis often not until after age 4 years • 82% of children with ASD did not have a diagnosis by age 3 years • 21% of children with ASD did not have a diagnosis by age 8 years Significant lag exists between concern and diagnosis
  • 17. Learn the Signs. Act Early. Goal: To improve early identification of autism and other developmental disabilities so children and their families can get the services and support they need
  • 18. Learn the Signs. Act Early.  Learn the Signs:  Resources for monitoring key developmental milestones among ALL children  “Red flags” that can indicate concern  Act Early:     Discuss Concerns Proactive Screening Refer for evaluation and services Find resources for early intervention and family support
  • 19. • Well-child visits for ALL children should include: Developmental Screening • Use of a validated screening tool at 9, 18, 24 or 30 months • ASD-specific screening 18 and 24 or 30 months • If concern identified: 1. Refer for intervention 2. Refer for evaluation AAP Policy Statement (2006)
  • 20. % Reported Developmental Monitoring and/or Screening Monitoring ONLY 36.9 42.0 Monitoring AND Screening Screening ONLY Neither 5.7 15.4 National Survey of Children’s Health (NSCH) 2007; ages 10-47 months Preliminary results, not for
  • 21. Acknowledgements • Catherine Rice • Learn the Signs. Act Early Team
  • 23. New Diagnosis = Social (Pragmatic) Communication Disorder • A Communication Disorder • Impairments in use of social communication • No Restricted and Repetitive Behaviors like ASD – How is SCD similar and different from Pragmatic Language Disorder, Nonverbal Learning Disability, and PDD-NOS?

Editor's Notes

  1. By way of history, I think most of you know that autism (as we know the core features of classic autism today) was first described in 11 children, mostly boys (8) by Dr. Leo Kanner a psychiatrist at the JHU in 1943. About the same time, Hans Asperger, a pediatrician in Australia also described a very similar phenotype, “autistic psychopathology” in 4 boys. Unfortunately his work was not translated into English until the 1980s, hence the delay in our recognition of his work. The term Asperger syndrome or disorder was coined by Lorna Wing.Autism was once thought to be rare, affecting about 1 in 2000 individuals. It was thought of as mental illness, specifically schizophrenia of childhood and was believed to be due to poor parenting, the “refrigerator mother,” prominent until the 1970s but even into the 1980s.Today, we consider ourselves more enlightened, as we recognize that autism has a biologic basis, it has a range or spectrum of presentations, and has been shown to occur in about 1% of
  2. Developmental disability No biologic test to confirm at present Presentation changes with developmentAutism spectrum disorders (ASDs) are a group of developmental disabilities that can cause significant social, communication and behavioral challenges. Diagnosing ASDs can be difficult since there is no medical test to diagnose the disorders.  We look at the child’s behavior and development to make a diagnosis, though the presentation can change with development.We do not know all of the causes of ASDs.  However, we have learned that there are likely many causes for multiple types of ASDs.  There may be many different factors that make a child more likely to have an ASD, including environmental, biologic and genetic factors.ASDs are “spectrum disorders.”  That means ASDs affect each person in different ways, and can range from very mild to severe.  People with ASDs share some similar symptoms, such as problems with social interaction.  But there are differences in when the symptoms start, how severe they are, and the exact nature of the symptoms. Present before age 3, but diagnosis is often laterFound in all cultures and economic groupsMore common in boys (3-4 times more often in boys)
  3. There is diagnostic overlap.Symptoms of ASD are not always unique to ASD.