Transcript to "The Who, What, When, Where and

Thomas D Carver DO, FAAP
Medical Director NICU Trinity Health

I have no financial disclosures for this
presentation.

http://www.trinityhealth.org/pediatrics
Objectives
After this presentation you should have
an understanding of the Incidence of
Autism Spectrum Disorders.
 You will have an understanding of the
tests used to screen for ASD.
 You will know what steps to take if a
child fails an autism screen.

History of Autism
The Expression of Emotion in Man and
Animals
 1872 book by Charles Darwin
 2/3 of all communication is by facial
expression or gesturing

Autism
From the Greek word Autos (self)
 First used 1911
 Presents with a wide range of
symptoms, skills and levels of disability
 Wide variety in strengths as well

History of Autism
Eugen Bleuler around 1911
 One group of symptoms of
schizophrenia
 1940’s Leo Kanner* children with
emotional or social problems
 Hans Asperger* Autistic psychopathy
 1950’s refrigerator mother or refrigerator
parents*

Autism
1960-1970’s separated from
schizophrenia
 Treatment was focused on LSD, electric
shock and behavioral change technique
 1980’s and 90’s focus was on behavioral
therapy and highly structured learning
environments

Autism Spectrum Disorder
A neurobiological medical condition that
effects the structure and function of
brain development
 Begins in utero
 Impairs social interaction, verbal and
non-verbal communication and is very
often associated with repetitive
behaviors

ASD
Qualitative impairment in reciprocal
social interaction
 Qualitative impairment in communication
 Restrictive, repetitive and stereotyped
patterns of behavior

Etiology of ASD
Genetic mechanisms are complex
 Environmental factors may modulate
phenotypic expression.
 Chromosomes 2,3,6,7,13,15,16,17 and
22

Impairment in Social interaction
Impairment in non-verbal behavior such
as eye contact or use of gestures
 Lack of social emotional reciprocity
 Failure to develop age appropriate peer
relationships
 Lack of spontaneous sharing of interest,
achievements or enjoyment

Communication
Absent/delayed language
 Inability to sustain a conversation
 Stereotypic or repetitive use of language
 Lack of make-believe, social imitative
play

Restrictive/Repetitive Behaviors
Restricted interests, abnormal in focus
or intensity
 Inflexible routines
 Pre-occupation with parts of objects
 Stereotypic motor mannerisms
 Insistence on sameness

ASD subtypes
Idiopathic
 secondary

Secondary Autism
Fragile X
 Tuberous Sclerosis
 Phenylketonuria
 Fetal Alcohol Syndrome
 Angelman Syndrome
 Rett Syndrome
 Smith-Lemli-Opitz Syndrome
 Downs Syndrome

ASD
Found in all racial, ethnic and
socioeconomic groups.
 4.5 times more common in Boys
 Prevalence in North America, Europe
and Asia is 1-2%
 2014 National Health Interview Study
prevalence for ASD was 2.24%

Incidence of Autism
1:68
 Determined by CDC
 Data collected from 12 sites

Map of collection states
Northern Lights
WHO
Any child with abnormalities picked up
on routine surveillance
 Any child with parental or other
caregiver concerns
 All children at 18 and 24 months*

Surveillance
 Any child with parental concerns of
development or hearing
 Sibling with ASD*
 Other caregiver concern
 Physician or provider concern
When to Screen
6 months*
 12 Months*
 18 Months
 24 Months
 48- 60 Months*

UC San Diego Study
12 months
 CSBS DP Infant Toddler Checklist
 10,479 infants screened at 137 practices
 184 failed screening
 32 ASD
 56 Language delays
 9 DD
 36 other

What Screen to Use
STAT Screening tool for Autism in
Toddlers 24-36 Months
 MCHAT-R/F 18-36 months
 CSBS Communication and Symbolic
Behavior Scales
 PEDS Parents Evaluation of
Developmental Status
 ASQ Ages and Stages

MCHAT-R/F
Robins et al
 16,071at 18 and 24 months MCHAT-R/F
 Score >3 initially and > 2 on follow up
had a 47.5 % risk for ASD and 94.6%
risk for any developmental delay
 ASD diagnosis accomplished 2 years
earlier than national average

CAST
Childhood Autism Screening Test
 Used at 4 or 5 year and 9 year

AAP
Developmental screening at 9, 18, 24
and 30 months.
 Social-Emotional screening 9,18,24,30
months
 Autism screening at 18 and 24 months

My Practice
2,4,6 months Edinburgh
6 months ASQ Dev
9 months ASQ Dev, hearing screen*
12 months ASQ SE, hearing screen*
15 months ASQ Dev
18 months ASQ SE, MCHAT-r/F
24 months ASQ Dev, MCHAT-r/F
My Practice
30 months ASQ SE*
 36 months ASQ Dev, ASQ SE
 48 months ASQ SE, CAST
 5 year CAST*
 6-10 year PSC, CAST at age 9
 11 year and over PSC youth edition
 14 -18 year CRAFFT*

Other screening as needed
Depression
 ADHD

Developmental Disabilities
Intellectual Disability, Downs Syndrome,
Speech Language Disability, Cerebral
Palsy, Vision impairments, Hearing
impairments, Autism, ADHD, Learning
Disabilities. Genetic syndromes
 17% of children under 18.

Developmental Disabilities
1 in 6 in US
 Autism prevalence increased 289.5 %
 ADHD prevalence increased 33%

Early Diagnosis
Gross motor delay at 6 months
 Fine motor delay
 12 month Infant Toddler Checklist
 Facial tracking at 6 months

Screening tool
M-CHAT-r/F
 Sensitivity 0.854
 Specificity 0.993
 Time to complete 10 min
 Time to score 1 min

Where
Physicians
 County Health Visits
 Daycare and preschool

NDGPIC
USPSTF
Grade I
 Not enough information to make
recommendation for universal screening
 AAFP

Why screen
Early intervention:
 May lead to finding other conditions
 Parents want answers and help

How often
18-24
 May use at 16-48 months
 Anytime parents have concerns

Medical Screening
Pregnancy history
 Thorough 3 generation family history
 Physical exam to include head
circumference and woods lamp
 Hearing screen
 Chromosomes, Human chromosomal
microarray*
 MTHFR

Diagnostic Clinic
Psychologist
 Physician
 OT
 Speech Path
 Clinic director
 Secretary

Referrals
Hearing screen
 Infant development
 Autism Diagnostic clinic
 Parent support group
 School system*
 Private therapy*

DSM-V
DSM-5 Autism Spectrum Disorders
A. Persistent deficits in social communication and social interaction across multiple texts,
as manifested by the following, currently or by history
a. Deficits in social-emotional reciprocity, ranging for example, from abnormal
social approach and failure of normal back-and –forth conversation; to reduced
sharing of interests, emotions, or affect; to failure to initiate or respond to
social
b. Deficits in nonverbal communicative behaviors used for social interaction,
ranging from poorly integrated verbal and nonverbal communication; to
abnormalities in eye contact and body language or deficits in understanding
and use of gestures; to a total lack of facial expressions and nonverbal
communication.
c. Deficits in developing, maintaining, and understanding relationships, ranging
from difficulties and adjusting behavior to suit various social contexts; to
difficulties in sharing imaginative play or in making friends; to absence of
interest in peers.
B. Restricted, repetitive patterns of behavior, interests, or activities, as manifisted by at
least two of the following, currently oro by history:
a. Stereotyped or repetitive motor movements, use of objects, or speech (simple
motor stereotypes, lining up toys or flipping objects, echolalia, idiosyncratic
phrases)
b. Insistence on sameness, inflexible adherence to routines, or ritualized patterns
of verbal or nonverbal behavior.
c. Highly restricted, fixated interests that are abnormal in intensity or focus.
d. Hyper- or hypo-reactivity to sensory input or unusual interest in sensory aspects
of the environment (e.g apparent indifference to pain/temperature, adverse
response to specific sounds or texture, excessive smelling or touching of objects,
visual fascination with lights or movement).
C. Symptoms must be present in the early developmental period (but may not become
fully manifest until social demands exceed limited capacities, or may be masked by
learned strategies in later life).
D. Symptoms cause significant impairment in social, occupational, or other important
areas of current functioning. (Circle those that apply)
a. Social Interaction
b. Language used in social communications
c. Symbolic or imaginative play
E. The disturbance is not better accounted for by Rett’s disorder or childhood
disintegrative disorder.
F. Diagnostic Criteria for Autism Met if a. through f. below checked Yes (circle if YES)
a. All items from A
b. At least two items from B
c. Yes to C
d. Yes to D
e. Yes to E
Yes
No
Yes
No
Yes
No
Yes
No
Yes
No
Yes
No
Yes
No
Yes
No
Yes
No
Yes
No
Yes
No
Severity Level
Social Communication
Restricted, Repetitive
Behaviors
Level 3
“Requiring very
substantial
supports”
Severe deficits in verbal and non- verbal social
communication skills social communication sills
cause severe impairments in functioning, very
limited initiation of social interactions, and
minimal response to social overtures from others.
For example, a person with few words of
intelligible speech who rarely initiates interaction,
and, when he or she does, makes unusual
approaches to meet needs only and responds to
only very direct social approaches.
Inflexibility of behavior,
extreme difficulty coping
with change, or other
restricted/repetitive
behaviors markedly
interfere with functioning in
all spheres. Great
distress/difficulty changing
focus or attention.
Level 2
“Requiring
substantial
supports”
Marked deficits in verbal and nonverbal social
communication skills; social impairments
apparent even with supports in place; limited
initiation of social interactions; and reduced or
abnormal responses to social overtures form
others. For example, a person who speaks simple
sentences, whose interaction is limited to narrow
special interests, and who has markedly odd
nonverbal communication.
Inflexibility of behavior,
difficulty coping with
change, or other
restricted/repetitive
behaviors appear frequently
enough to be obvious to the
casual observer and
interfere with functioning in
a variety of contexts.
Distress and/or difficulty
changing focus or action.
Level1
“Requiring
support”
Without supports in place, deficits in social
communication cause noticeable impairments.
Difficulty initiating social interactions, and clear
examples of atypical or unsuccessful responses to
social overtures of others. May appear to have
decreased interest in social interactions. For
example, a person who is able to speak in full
sentences and engages in communication but
whose to and fro conversation with others fails,
and whose attempts to make new friends are odd
and typically unsuccessful.
Inflexibility of behavior
causes significant
interference with
functioning in one or
more contexts. Difficulty
switching between
activities. Problems of
organization and
planning hamper
independence.
ND Autism Data Base
Improve services and support for
individuals with ASD
 Inform public policy decisions
 Improve community awareness
 Assist in identifying risk factors

Developmental Screening

PDSQ
Social emotional Screening