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Early Identification of
Autism in Primary
Care
Anthony Malone M.D.
CapitalCare Developmental-Behavioral
Pediatrics
Goals for the Presentation
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Discuss efficient ways to identify children
with concerns in autism very early.
Review how the Early Intervention system
works, how to refer and the primary care
providers role in the intervention process.
Review the new DSM 5 and the ICD 10
diagnostic approaches approach to
terminology.
Bio-Psycho-Social
Care of Children
20% of all child visits are developmental or
behavioral in nature.
OR
We have stopped universal screening for
TB but have added universal
developmental/behavioral screening.
The Role of
Primary Care in
Autism
Case Finding
Differential Diagnosis
Family Support and Advocacy
Reasoned Treatment
Why Screen?
Does Early Detection Matter?
What We Don’t Want: A Real Case
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Parents concerned by 2 years of age: Primary
provider “don’t worry”.
Parent initiated EI evaluation at 28 months:
language delay and started ST.
At 44 months still in S.T. 2x week. In typical
preschool and doing poorly
 Developmental Consultation: Moderate Autism
Aggressive programming waits until 47 months
to start
How are We Doing?
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Experience of CapitalCare DevelopmentalBehavioral Pediatrics
Average age of AS diagnosis in 1999-2000 was
57 months with 22 diagnosis under 24 months
Average age of AS diagnosis in 2009-2010 is
now 41 months with 89 diagnosis under 24
months
Early Intervention in Autism
Evidence-Based Comprehensive
Treatments for Early Autism
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“Developmental delays associated with autism can be
reduced for some children in some areas by specific
intervention approaches. The studies with the best
outcomes demonstrate that as many as half of children
show marked accelerations in developmental rate and
perform within normal limits.”
“There appears to be the promise of “recovery” in
autism, but we do not know how often recovery occurs.
Until we have multisite studies with sufficient numbers to
examine mediators and moderators of intervention
effects, will we know the predictors of “recovery”. “
Sally J. Rogers J Clin Child Adolesc Psychol. 2008 January; 37(1): 8–38.
How to Screen
AAP Approaches: From Principle to
Practicality
PEDIATRICS
Volume 120,
Number 5,
November
2007
AAP Guidelines for Screening and
Surveillance: The Bottom Line
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Surveillance at every well child visit
 Screening tool if concerns
Screening tool at 9, 18, and 24-30 months
Autism specific screening at 18 and 24 months
N.B. This screening approach at 18-24 months
of age WILL NOT identify all children within the
spectrum at those ages.
Developmental
Surveillance
Clinical Skills, Partnerships with
Parents and Ongoing Monitoring
Developmental Surveillance
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Most parents will tell you early on there is a
concern. This is your BEST avenue of case
finding.
Sometimes your well child exam will uncover a
problem that the parents miss.
Sometimes surveillance misses a problem on
one visit but it becomes apparent on subsequent
visits.
Universal screening at selected ages hopefully
picks up missed surveillance cases.
Developmental Surveillance
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Eliciting and attending to the parents’ concerns
about their child’s development
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80% of parental concerns are correct and accurate.
Documenting and maintaining a developmental
history
Making accurate observations of the child
Identifying risk and protective factors
Developmental Surveillance
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Listen
Look
Think about risk: biologic and psychosocial
Record, monitor, refer, screen, diagnosis
Set deadlines for review, evaluations,
referrals
Parental recognition of developmental problems in
toddlers with autism spectrum disorders.
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The majority of parents of children under 20
months with delayed communication do not
report concern.
In contrast, a substantial percentage of parents
of children 21–24 months report concern whether
their child is typical or delayed.
This finding is important to consider because
parent concern can influence whether parents
seek out or agree to participate in screening and
evaluation and affect surveillance.
Chawarska et al., 2007.
Recognition of Autism Before Age
2 Years Pediatr. Rev. 2008;29;86-96 Chris Plauché Johnson
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Clinical Probe for the 12- and 15-month
Health Supervision Visits:
The clinician might demonstrate the child’s ability
to follow a point by saying, “Look! See the. . . .”
and point to an interesting object or picture on
the wall or ceiling.
If there is no response, call louder and initiate the
bid with the child’s name or a tap on his or her
shoulder. Often, no degree of intensity is
successful in getting the child who has autism to
look.
First year Surveillance Clues
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Strong an interest in objects
Diminished babbling
Lack of well developed imitation skills
Lack of social smile
Lack of appropriate facial expression
Passive temperament or being undemanding of
parental attention.
ƒ Limited (or no) giving or showing of objects
ƒ Hyper-or hypo responsiveness to sensory stimuli
ƒ Failure to look up or orient toward a voice for name
Second Year Surveillance Clues
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“Deterioration” commonly perceived by parents.
Problems in responsive smiling
Poor or inconsistent response to name
Not following or initiating pointing
Not looking to "read" faces
Poor Initiation of requesting behaviors
Dysfunctional play, repetitive play with objects.
Difficult to examine, highly anxious
Video Glossary and Video Training
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Video glossary contains more than 150
video clips and is available to the public
free of charge at www.autismspeaks.org,
www.firstsigns.org, and
firstwords.fsu.edu
Autism Spectrum Disorder in Young
Children: A Visual Guide: Dr Towle
Video tutorial on ASD behavioral
signs in one-year-olds.
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Free 9-minute video
The tutorial consists of six video clips comparing
toddlers who show no signs of ASD to toddlers who
show early signs of ASD. Each video is presented with
voice-over explaining how the specific behaviors
exhibited by the child, as they occur on screen, are
either indicative of ASD or typical child development.
http://www.kennedykrieger.org/patient-care/patient-carecenters/center-autism-and-related-disorders/outreachtraining/early-signs-of-autism-video-tutorial
What Screening
Tools are
Available?
Screening Instruments: Broadband
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Ages and Stages Questionnaire
Battelle Developmental Inventory (BDI)
Bayley Infant Neurodevelopmental Screener (BINS)
Brigance Screens-II
Infant Development Inventory
Child Development Review
Child Development Inventory (CDI)
Denver-II Developmental Screening Test
Developmental Screening Inventory (DSI)
Parents' Evaluation of Developmental Status (PEDS)
Developmental Screening
Instruments: Autism specific
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Modified Checklist for Autism in Toddlers (MCHAT)
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The Modified Checklist for Autism in Toddlers (MCHAT), consisting of 23 yes/no items, was used to
screen 1,293 children.
Sensitivity falls within the 75–91% range
The sensitivity is strongest if used in a clinical setting or
with children referred owing to developmental concerns
M-CHAT should only be used in combination with an
interview with a general pediatric sample in order to
reduce false positives and avoid unnecessary referrals
and parent concern
Modified CHAT
1. Does your child enjoy being swung, bounced on your knee, etc.?
2. Does your child take an interest in other children?
3. Does your child like climbing on things, such as up stairs?
4. Does your child enjoy playing peek-a-boo/hide-and-seek?
5. Does your child ever pretend, for example, to talk on the phone or take
care of dolls or pretend other things?
6. Does your child ever use his/her index finger to point, to ask for
something?
7. Does your child ever use his/her index finger to point, to indicate
interest in something?
8. Can your child play properly with small toys (e.g. cars or bricks)
without just mouthing, fiddling, or dropping them?
9. Does your child ever bring objects over to you (parent) to show
you something?
10. Does your child look you in the eye for more than a second or
two?
11. Does your child ever seem oversensitive to noise? (e.g., plugging
ears)
12. Does your child smile in response to your face or your smile?
13. Does your child imitate you? (e.g., you make a face-will your
child imitate it?)
14. Does your child respond to his/her name when you call?
15. If you point at a toy across the room, does your child look at
it?
16. Does your child walk?
17. Does your child look at things you are looking at?
18. Does your child make unusual finger movements near his/her
face?
19. Does your child try to attract your attention to his/her own activity?
20. Have you ever wondered if your child is deaf?
21. Does your child understand what people say?
22. Does your child sometimes stare at nothing or wander with no
purpose?
23. Does your child look at your face to check your reaction when
faced with something unfamiliar?
MCHAT Scoring
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A child fails the checklist when 2 or more critical
items are failed OR when any three items are
failed. Critical items are #2,7,9,13,14,15
Yes/no answers convert to pass/fail responses.
Not all children who fail the checklist will meet
criteria for a diagnosis on the autism spectrum.
However, children who fail the checklist should
be evaluated in more depth by the physician or
referred for a developmental evaluation with a
specialist.
Robins, (2001). The Modified Checklist for Autism in Toddlers. J.of Autism and Developmental2),
144.
131-
MCHAT Follow Up Interview
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Select items based on M-CHAT scores.
Administer only those items for which the parent
indicated behavior that demonstrates risk for
autism spectrum disorders (ASDs), and/or those
which the healthcare provider has concerns may
not have been answered accurately.
The M-CHAT Follow-Up Interview can be
downloaded free of charge from
http://www2.gsu.edu/~psydlr
Could One Test Do
It All?
The Holy Grail of Developmental
Screening
Can ASQ or PEDS be used as
an autism screener?
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ASQ is not an autism screener; however,
the ASQ-3 reliably picks up delays
associated with autism and identifies
children who should receive further
evaluation.
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Majority of children but not all who fail the MCHAT also receive moderate or at-risk scores
on PEDS.
Infant-Toddler Checklist
Communication and Symbolic Behavior Scales Developmental Profile (CSBS DP™)
Amy M. Wetherby, Ph.D., CCC-SLP, & Barry M. Prizant, Ph.D., CCC-SLP
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Designed as a broadband screener for communication
delays
The ITC was used to screen 5,385 children from 6–24
months of age. Positive and negative predictive values
support the validity of the ITC for children 9–24 months
of age
ITC has high sensitivity and specificity (both 88.9%) for
catching toddlers at risk for ASD and other
developmental delays from a general pediatric sample
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Autism. 2008 September; 12(5): 487–511.Validation of the Infant-Toddler Checklist as a
Broadband Screener for Autism Spectrum Disorders from 9 to 24 Months of Age Amy
M. Wetherby,
Scoring
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0 points for items checked "Not Yet," 1 point for items
checked "Sometimes," or 2 points for items checked
"Often."
For items that require selecting a number range as the
answer, give credit of 0 points for items checked "None"
and 1 to 4 points for items containing numbered choices.
The 24 questions are grouped into categories, called
Clusters. Total the items in each Cluster to yield seven
individual Cluster scores The Screening Record groups
the Clusters into larger categories, called Composites.
Yes there is software!
Could You Approach Screening
Differently in Your Setting?
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For example, could you use a broad based
screening tool at 18, 24 months and then
use an autism specific evaluation of the
first screen is positive?
Look at this study
Detecting, Studying, and Treating Autism
Early: The One-Year Well-Baby
Check-Up Approach
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The Communication and Symbolic Behavior Scales
Developmental Profile Infant-Toddler Checklist was distributed
at every 1-year pediatric check-up; 137 pediatricians and 225
infants participated.
Pediatricians screened 10 479 infants at the 1-year check-up;
184 infants who failed the screen were evaluated and tracked.
To date, 32 infants received a provisional or final diagnosis of
ASD, 56 of LD, nine of DD, and 36 of ‘‘other.’’ Five infants who
initially tested positive for ASD no longer met criteria at followup. The remainder of the sample was false positive results.
Positive predictive value was estimated to be .75
J Peds 2011 Karen Pierce
Pediatrician Satisfaction Questionnaire for
Infant-Toddler Checklist
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Ninety-two pediatricians completed and returned
the survey.
Most pediatricians were not systematically
screening infants at any age before participation
in the 1-Year Well-Baby Check-Up Approach
After participation, 96% of pediatricians
evaluated the program positively and believed
that it was a clinically valuable improvement to
their practice.
Importantly, all pediatric practices are still using
the screening tool.
How to Implement
a Screening
Program
You Have a
Successful Model of
Screening Already
Growth Charts
Blood Pressures
Vision/Hearing
Anemia
AAP Autism Toolkit
How to Implement: Our Troy
Experience
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Front office staff remembers to hand out
questionnaire at right age
Provider monitors whether it is present, signs off
on screening and results
Appropriate documentation and follow up
How to Implement: Troy Experience
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Heavy emphasis on surveillance
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Clinicians who are alert to developmental
differences
Most of our identified cases are discovered prior
to any formal screening
How to Implement: Troy Experience
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Leadership: those interested in successful
program need a voice and power for
implementation and improvements
How to Implement: Troy Experience
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Gradual switch to ASQ and MCHAT
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Employ MCHAT first at 18 months then 24-30
months
Then added ASQ at 18 and 24 months
Added 30 month visit
Designated nurse coordinating results and
referrals
We are considering switch to ITC
How to Implement: Troy Experience
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96110 “developmental screening” charge
experience
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$20 charge for screening
Some insurers don’t reimburse
Average reimbursement is $10.40
Screening Implementation
Worksheet: Step by Step
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1. Who will ensure that copies of screens are available each
day for parents to complete?
2. Who will ask whether parents can complete the forms on
their own or need assistance?
3. Who will help parents who need assistance?
4. Who will collect screens from families?
5. Who will score screens?
6. Who will attach screens to the chart or otherwise make
sure they are available to clinicians?
7. Who will locate patient education materials and referral
resources? Who will follow up if needed? How will this person
know when to follow up?
Screening Implementation
Worksheet: Step by Step
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8. Who will explain results to families?
9. Who will contact referral resources when a referral is
needed?
10. What will you do with the screening materials once
they’ve been discussed with families?
11. If using electronic records or age-specific encounter
forms, who will indicate and where, the fact that
screening has been completed?
12. Who will bill/code for completion of screens and for
positive/negative results?
13. What procedure and diagnosis codes will you use?
Screening Implementation
Worksheet: Step by Step
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14. Who will explain to utilization review personnel your
decision about CPT and DX codes?
15. Where will you keep supplies of screens and patient
education materials?
16. Who will lead staff through your rationale for
deploying validated screening in your practice and
otherwise inspire them about the value of screening?
17. How will you handle things if staff is unwilling?
18. What is your time frame for accomplishing a smooth
screening process?
19. What kind of evaluation of the process will you use?
Pitfalls of Screening
Waiting until a problem is observable.
 Ignoring screening results.
 Relying on informal methods. .
 Using a measure not suitable for
primary care.
 Assuming services are limited or
nonexistent.
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The Primary Care
Role
Case Finding
Differential Diagnosis
Family Support and Advocacy
Reasoned Treatment
What We Do Want?
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Parents concerned at 2 years of age
Primary care screening positive for
concerns in ASD
Child seen by specialist and DX with ASD
at 24 months.
Aggressive programming starts by 24
months
Early Intervention Program
Mission and Goals
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The mission of the Early Intervention Program is to identify and evaluate as early
as possible those infants and toddlers whose healthy development is
compromised and provide for appropriate intervention to improve child and
family development.
Family-Centered and Support parents in meeting their responsibilities to nurture and
enhance their children's development.
Community-Based: Create opportunities for full participation of children with
disabilities and their families in their communities by ensuring services are delivered in
natural environments to the maximum extent appropriate.
Coordinated Services: Ensure early intervention services are coordinated with the
full array of early childhood, health and mental health, educational, social, and other
community-based services needed by and provided to children and their families.
Measurable Outcomes for Children & Families: Enhance child development and
functional outcomes and improve family life through delivery of effective, outcomebased high quality early intervention services.
Early Intervention & The Medical Home: Ensure early intervention services
complement the child's medical home by involving primary and specialty health care
providers in supporting family participation in early intervention services.
Bottom Line
Thoughts
Surveillance
skills: build them and incorporate them.
Listen to Parents
The point of the AAP guidelines is do great case finding.
Work with a model that fits your setting the best.
Intervention makes a difference: The earlier the better.
Screening is one pathway to early intervention.
Web resources
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Course on Developmental Screening:
http://www.pedialink.org/cmefinder/searchdetail.cfm/key/311F54AC-2CD0-4AF2-939E5AE7800367CD/type/course/grp/2/task/details
Medical Home Implementation
http://www.pediatricmedhome.org/
Screening resources: http://dbpeds.org/screening/
http://www.cdc.gov/ncbddd/autism/hcp-screening.html
Kanner 1943 Autistic Disturbances
of Affective Contact
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The outstanding, "pathognomonic," fundamental
disorder is the children's inability to relate
themselves in the ordinary way to people and
situations from the beginning of life. Their parents
referred to them as having always been "selfsufficient"; "like in a shell"; "happiest when left
alone"; "acting as if people weren't there";
"perfectly oblivious to everything about him";
"giving the impression of silent wisdom"; "failing
to develop the usual amount of social
awareness"; "acting almost as if hypnotized."
Kanner 1943 Autistic Disturbances
of Affective Contact
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Language—which the children did not use for the
purpose of communication—was deflected in a
considerable measure to a self-sufficient, semantically
and conversationally valueless or grossly distorted memory exercise.
A marked limitation in the variety of his spontaneous
activities; anxiously obsessive desire for the
maintenance of sameness led to the refusal of food,
reaction to loud noises, monotonous activity
We must, then, assume that these children have come
into the world with innate inability to form the usual,
biologically provided affective contact with people
Individual differences in severity, specific features, and
developmental course
The “fundamental disorder is the
children's inability to relate
themselves in the ordinary way to
people and situations from the
beginning of life.
The core issue is one of social
reciprocity, social recognition and
social intelligence
Autism Diagnosis ICD-10
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F84 Pervasive developmental disorders
A group of disorders characterized by qualitative abnormalities in reciprocal
social interactions and in patterns of communication, and by a restricted,
stereotyped, repetitive repertoire of interests and activities. These qualitative
abnormalities are a pervasive feature of the individual’s functioning in all
situations.
F84.0 Childhood autism
A type of pervasive developmental disorder that is defined by: (a) the
presence of abnormal or impaired development that is manifest before the
age of three years, and (b) the characteristic type of abnormal functioning in
all the three areas of psychopathology: reciprocal social interaction,
communication, and restricted, stereotyped, repetitive behaviour. In addition
to these specific diagnostic features, a range of other nonspecific problems
are common, such as phobias, sleeping and eating disturbances, temper
tantrums, and (self-directed) aggression.
DSM 5
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Social-Communication Deficits
Fixated interests and repetitive behavior or
activity
The Major Changes
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Eliminates the previously separate subcategories on the
autism spectrum, including Asperger syndrome, PDDNOS, childhood disintegrative disorder and autistic
disorder. All of these subcategories will be folded into
the broad term autism spectrum disorder (ASD).
Instead of three domains of autism symptoms (social
impairment, language/communication impairment and
repetitive/restricted behaviors), two categories will be
used: social communication impairment and restricted
interests/repetitive behaviors.
The Major Changes
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Under the DSM-IV, a person can qualify for an
ASD diagnosis by exhibiting at least six of twelve
deficits in social interaction, communication or
repetitive behaviors.
Under the DSM-5, diagnosis will require a person
to exhibit three deficits in social communication
and at least two symptoms in the category of
restricted range of activities/repetitive behaviors.
Within the second category, a new symptom will
be included: hyper- or hypo-reactivity to sensory
input or unusual interests in sensory aspects of
the environment.
The Major Changes
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Addition of known genetic cause (e.g. fragile X
syndrome, Rett syndrome), level of language and
intellectual disability and presence of medical
conditions, such as seizures, anxiety,
depression, and/or gastrointestinal (GI)
problems.
New category established called Social
Communication Disorder. This will allow for a
diagnosis of disability in social communication
without the presence of repetitive behavior.
Major Changes
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Past history will be taken into account
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Previous hx of repetitive behaviors not currently
present counts toward dx
Softening the criteria of the age of onset
of symptoms.
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In some children, the impairment from autism
may not be seen until a later age, particularly in
people on the higher functioning end of the
autism spectrum.
Important Ideas included in DSM-5
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Autism is a behavioral disorder not a disease
There are multiple etiologies
It is a lifelong disorder that may change in
appearance over time
Social Interaction and social communication are
the core issues.
Autism is a single spectrum but with a great deal
of individual variability.
The diagnosis should take into account the
history of symptoms and not just current
behaviors.
Domain Criteria: Social
Communication
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Persistent deficits in social communication
and social interaction across contexts, not
accounted for by general developmental
delays, and manifest by all 3 of the following:
1. Deficits in social-emotional reciprocity
2. Deficits in nonverbal communicative
behaviors used for social interaction
3. Deficits in developing and maintaining
relationships
Domain Criteria: Repetitive Patterns
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Restricted, repetitive patterns of behavior,
interests, or activities as manifested by at
least two of the following:
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Stereotyped or repetitive speech, motor
movements, or use of objects
Excessive adherence to routines, ritualized patterns
of verbal or nonverbal behavior, or excessive
resistance to change
Highly restricted, fixated interests that are abnormal
in intensity or focus
Hyper-or hypo-reactivity to sensory input or
unusual interest in sensory aspects of environment
Social Communication Disorder
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A. Persistent difficulties in the social use of verbal and nonverbal
communication as manifest by deficits in the following:
1) Using communication for social purposes, such as greeting
and sharing information, in a manner that is appropriate for the
social context;
2) Changing communication to match context or the needs of the
listener, such as speaking differently in a classroom than on a
playground, communicating differently to a child than to an adult,
and avoiding use of overly formal language. ;
3) Following rules for conversation and storytelling, such as
taking turns in conversation, rephrasing when misunderstood,
and knowing how to use verbal and nonverbal signals to regulate
interaction;
Social Communication Disorder
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4) Understanding what is not explicitly stated (e.g. inferencing)
and nonliteral or ambiguous meanings of language, for example,
idioms, jokes, metaphors and multiple meanings that depend on
the context for interpretation.
B. Deficits result in functional limitations in effective
communication, social participation, social relationships,
academic achievement, or occupational performance.
C. Onset in the early developmental period (but deficits may not
become fully manifest until social communication demands
exceed limited capacities).
D. Deficits are not better explained by low abilities in the domains
of word structure and grammar, or by intellectual disability,
global developmental delay, Autism Spectrum Disorder, or
another mental or neurologic disorder.
Bottom Line
Thoughts
Surveillance
skills: build them and incorporate them.
Listen to Parents
The point of the AAP guidelines is do great case finding.
Work with a model that fits your setting the best.
Intervention makes a difference: The earlier the better.
Screening is one pathway to early intervention.