patricia towle, ph.d. westchester institute for human development

Early Identification of Infants and Toddlers With Autism and Other Developmental Disabilities

January 2012Albany, New York

Patricia Towle, Ph.D.Westchester Institute for Human

Development

Autism Spectrum Disorders in Young

Children: The Background, the

Basics, and the Behaviors

The Background

•Current prevalence estimates

•Current push for early identification

•The validity of early identification/diagnoses

•How early can we recognize or diagnose?

•Current prevalence estimates

The Background

• 1/150 children• 3-4 boys for every girl• this includes the broad spectrum from severe to mildSource: CDC--Morbidity and Mortality WeeklyDec 12, 2009

•Push for early intervention

The Background

• Early intervention works!• The earlier, the better• The closer to 2 years, the better

Early detection: Why is it so important?

Early intervention works!Supports development ->better foundation-

> supports higher levels of independence later

Starts caregivers with their advocacy training-the sooner, the betterUnderstanding needs, learning the system,

accessing resources, impacting on the system

• Pediatrician, family medicine and primary care provider in key role to refer parents for evaluations as early as possible

•Are early diagnoses reliable and valid?

The Background

Author, Date Goal Subjects Followed From – To

Results

 Cox, 1999

Predictive validity of

ADI-R

45Compared

different ASD risk levels

20 mos – 42 mos

Diagnosis of ASD at 20 months is predicted to be highly sensitive and

stable

 Stone, 1999

Diagnostic stability in children under 3 years

25 Aut, 12 PDD-NOS

31.4 mos – 45.0 mos

Stability seen in 92+%

 Szatmari,

2000

Comparison of outcomes between Aut

and Asp

46 Aut20 Asp

4-6 years – 6-8 years

Diagnosis of Aut and Asp remained stable

Michelotti, 2002

Follow-up of children with ASD-

like symptoms

18 with language

delay and Aut features

4 years 4 mos –

8 years 7 mos

All were diagnosed with an ASD

(Aut, Atyp Aut, Atyp Aut with lang. delay)

Author, Date Goal Subjects Followed From – To

Results

 Moore, 2003

Diagnostic stability

16 Aut3 Atyp Aut

1 Lang disorder

2 years 10 mos –

4 years 5 mos

All diagnosed with Aut or Atyp Aut retained ASD diagnosis

 Freeman, 2003

Diagnostic stability

59 ASD 2-5 years – 4-6 years

Early ASD diagnosis remained stable

 Eaves, 2004

Diagnostic stability

49 with characteristics

of Aut

2 years 9 mos – 4 years 11 mos

97% Aut retained ASD77% PDD-NOS retained ASD

 Charman, 2005

Diagnostic stability

29 with Aut 2 years – 7 years

Standard measures at age 2 years did not predict outcomes at 7 years, but measures at age

3 years were predictive

 McGovern,

2005

Diagnostic stability

48 with Aut 3 years 11 mo –

19 years

96% retained diagnosis through adolescence/early adulthood

•80-90% of children id’d as toddlers or preschoolers remain on “the spectrum” into school age years

•Many young children who have symptoms within the profile of ASD but don’t meet full criteria also end up with an ASD diagnosis

•Young children with milder presentations are slightly more likely to change diagnosis from early to later

Yes, early diagnoses are reliable and valid.

The Background

3 years – no problem (except for especially mild and complex cases)

24 months – most can be dxed by now

18 - 20 months – many can be

14-15 months – for some, strong risk can be established

12 months – for a few, strong risk can be established

How early is early identification?

The Background

There are different developmental trajectories of ASD symptoms in children

Three major patterns of symptom emergence:

Different from the start (never really develop social linguistic skills)

Plateau and fade (13 – 15 months)More clear regression (15-20 months, 20-35 %) in

second yearPatterns in between

The Basics

• Current Terminology

• A Spectrum Disorder: The Issues

• The Diagnostic Criteria

• What Autism Isn’t

The Confusing Array :

PDD-NOS

Atypical Autism

Asperger syndrome

PDD

Pervasive Developmental Disorder

Infantile

Autism

Autism Spectrum Disorder

CDD

The BasicsCurrent Terminology

Professional Vs. Diagnostic

Autism Spectrum Disorder

The Pervasive Developmental Disorders

The Basics

Current Terminology

Manual for diagnosing all mental health and developmental disorders in childhood and adulthood

Diagnostic and Statistical Manual of Mental Disorders

The Basics

Current Terminology

The Pervasive Developmental

Disorders

AutisticDisorder Asperger

Syndrome

PDD-NOS

RettSyndrome

ChildhoodDisintegrativeDisorder

The Basics

The Pervasive Developmental Disorders

AutisticDisorder

AspergerSyndrome

PDD-NOS

“Core Disorder”Approx 50% of PDDs- wide

range of IQ15% have some

identifiable genetic disorder, for example FraX

30% have seizure disorder

The Basics

Milder version“Subthreshold”

Aspergers - social problems without the same degree of language problems

Most have average to above average IQ

The Pervasive Developmental Disorders

AutisticDisorder

AspergerSyndrome

PDD-NOS

The Basics

The issues with a “Spectrum Disorder”1. A continuum of

Severity

More severe

MoreMild

The Pervasive Developmental Disorders

AutisticDisorder

AspergerSyndrome

PDD-NOS

The Basics

The issues with a “Spectrum Disorder”

2. The interface with cognitive delay

More severe

MoreMild

Cog

nit

ive

Fu

ncti

on

ing

HighLow

High

Low

Symptom Severity

The Basics2. The interface of symptom severity with

cognitive delay

CognitiveFunctioning

HighLow

High

Low

Symptom Severity

Low Functioning Autism

High Functioning Autism

ID (MR) with Autistic-like

features

Very Mild Autism/PDD-NOS/Aspergers

The Pervasive Developmental Disorders

AutisticDisorder

AspergerSyndrome

PDD-NOS

The Basics

The issues with a “Spectrum Disorder”

3. Variable symptom presentation

More severe

MoreMild

Autism Spectrum Disorder:The Three Symptom Domains

Social Interaction

Communication

Repetitive Behaviors

The Basics

ASD Profile of Behaviors

Social Interaction Communication Repetitive Behaviors

1. Impairment in nonverbal behaviors to regulate social interactions

2. Failure to develop peer relations

3. Lack of spontaneous sharing of emotions

4. Lack of reciprocity

1. Delay in development of spoken language

2. Lack of ability to sustain conversation

3. Atypical language features

4. Lack or reduced social or pretend play

1. Preoccupation with unusual pattern of behavior

2. Inflexible adherence to routine

3. Stereotyped, repetitive mannerisms

4. Preoccupation with parts of objects

The Three DSM-IV Symptom Domains

The Basics

Three Symptom Domains: Children can have different degrees of symptoms across

them

Social InteractionCommunication

Repetitive Bhvrs

severe

severe

severe

mild

mild

mild

The issues with a “Spectrum Disorder”

Communication Social Interaction

Repetitive Behaviors

AUTISM SPECTRUM DISORDER

social languagedifficulties

Difficulties initiating and maintaining social interaction

Restricted, repetitive play underdeveloped for age

The issues with a “Spectrum Disorder”

AUTISM SPECTRUM DISORDER

3. Variable symptom presentation

CommunicationSocial

Interaction

They may be better with highly familiar people in very familiar routines or favorite activities

Great unevenness across people and settings is a feature of ASD

The Behaviors

•Social Interaction

•Communication

•Repetitive Behaviors

Social Interaction Behaviors

What are the COMPONENTS?

1. Social Interest: How does a child show that they are interested in and “tuned in” to other people?

2. Emotional Expression or Signaling: How does a child share emotions and how “readable” are they?

3. Capacity for Interaction: How much “back and forth” can they do?

Seeks Proximity: vs. Indifference or Avoidance

The Social Interest Component: How do they show they are interested in and tuned in to others?

Stays physically close if comfortable

Indifference or Avoidance

The Social Interest Component

Off by himself; may take off when others come near

Stays with others but does not interact

Typical eye contact use vs. Avoidance of, reduced, or impersonal eye contact

The Social Interest Component

Monitors eyes and face vs. Does not monitorof others

The Social Interest Component

The Social Interest Component

The Social Interest Component

The Social Interest Component

The Social Interest Component

The Social Interest Component

Social Interaction Behaviors

What are the COMPONENTS?

1. Social Interest: How does a child show that they are interested in and “tuned in” to other people?

2. Emotional Expression or Signaling: How does a child share emotions and how “readable” are they?

3. Capacity for Interaction: How much “back and forth” can they do?