Autism Spectrum Disorders:

Identification & Management

Georgina Peacock, MD, MPH, FAAP
Susan L. Hyman, MD, FAAP
Susan E. Levy, MD, FAAP

Objectives
By the end of the Webinar, participants will be able to:

Recognize the early warning signs of autism spectrum

disorders (ASD)

Describe the recommendations put forth in the 2 AAP

Autism Clinical Reports regarding identification and
management of ASDs

Utilize the AAP Autism Screening Algorithm in office

practice

Identify components of the AAP Autism Toolkit which will

assist you in providing a medical home to children with
ASD

Pediatrics 2006; 118: 405-420

Developmental Surveillance
& Screening Policy
Statement Goals
Increase identification of children with
developmental disorders by child health
professionals
Improved surveillance and screening
Concrete guidelines (algorithm)
Eliminate barriers (e.g. reimbursement, time)

Improve medical assessment

Definitions (AAP, 2006)

Developmental surveillance
A flexible, longitudinal, continuous, and cumulative
process whereby knowledgeable health care
professionals identify children who may have
developmental problems

Developmental screening
The administration of a brief standardized tool
aiding the identification of children at risk of a
developmental disorder
Not diagnostic!

Developmental evaluation
Aimed at identifying the specific developmental
disorder or disorders affecting the child

Child Development
Its more than height and
weight
Observing how children
play, learn, speak and act
Different areas of
development
Social, communication,
cognitive, gross motor, fine
motor, adaptive

Monitoring milestones can

offer early signs of delay
including signs of autism
spectrum disorders

Autism Spectrum
Disorders
Problems with
socialization
Problems with
communication
Unusual behaviors

Parental Concerns
(Wiggins, Baio, Rice, 2006)

Recent study by CDC indicated

most children with an ASD
diagnosis had signs of a
developmental problem before
the age of 3, but average age of
diagnosis was 5 years.

Early Development
Babies start communicating
and relating to other people
at birth
Continued social-emotional
development is key to
forming strong relationships
and continued learning

By the end of 3 months

Begin to develop a social
smile
Enjoy playing with other
people and may cry when
playing stops
Become more expressive
and communicate more
with face and body
Imitate some movements
and facial expressions

By the end of 7 months

Smile back at another person
Respond to sound with sounds
Enjoy social play
Red Flags
No big smiles or other warm, joyful
expressions by six months or thereafter
No back-and-forth sharing of sounds,
smiles, or other facial expressions by nine
months or thereafter

By the end of 12 months

Use simple gestures
Imitate actions in their play
Respond when told no
Red Flags
No back-and-forth gestures, such as
pointing, showing, reaching, or waving bye
Not answering to ones name when called
No babbling mama, dada, baba

Joint Attention and Social

Engagement

By the end of 18 months

Do simple pretend play
Point to interesting objects
Use several single words unprompted
Red Flags
No single words by 18 months
No simple pretend play

By the end of 2 years

(24 months)

Use 2- to 4-word phrases

Follow simple instructions
Become more interested in other children
Point to object or picture when named
Red Flags
No two-word meaningful phrases (without
imitating or repeating)
Lack of interest in other children

Red Flag: Any loss of speech or

babbling or social skills
Regression at any age is cause for
immediate referral

Health Care Professional

Resource Kit

Stand with 200

Informational
Cards

Set of 15 Fact
Sheets

Small Posters (3)

Learn the Signs.

www.cdc.gov/ncbddd/actearly/
Act Early.
The findings and conclusions in this presentation have not been formally
disseminated by the CDC and should not be construed to
represent any agency determination or policy.

AAP Reports Related to Autism

2001: Complementary and Alternative Medicine in
Children with Chronic Illness
Pediatrics. 2001 Mar;107(3):598-601

2006: Developmental Screening

Pediatrics. 2006 Jul;118(1):405-20

2007: Evaluation of Autism

Pediatrics. 2007 Nov;120(5):1183-215

2007: Management of Autism

Pediatrics. 2007 Nov;120(5):1162-82

2009: The Young Child with Autism

Pediatrics. 2009 May;123(5):1383-91

Identification and Management

of Children with Autism

Clinical Reports on Autism:

2007
Clinical Reports: Guidance for the
clinician in rendering pediatric care
Clinical Practice Guidelines:
Evidence-based decision-making
tools for managing common
pediatric conditions
Technical Reports: Background
information to support AAP policy

Important Roles of Primary

Care Physicians/Medical Home
Early recognition
Knowledge of signs and symptoms
Developmental surveillance and
screening

Guiding families to diagnostic

resources and intervention services
Conducting a medical evaluation
Providing ongoing health care
Supporting and educating families

Screening in Primary Care

Surveillance for Social and
Communication skills
Screen at 18 and 24 months
with specific screening test
Reassess at well child visits
and if concerns arise
Later age at diagnosis for
children with high functioning
ASD

ASD Screening in Primary

Care:
Children at Higher Risk:
Siblings of children with ASD: 10 x
increased risk
Premature Infants
Comorbid Genetic Syndromes: e.g. Fragile
X syndrome, Tuberous Sclerosis
Prenatal Exposures e.g. Valproic acid

Regression in Milestones: 25-30%

15-24 months of age
Change in language, social awareness or
behavior

http://www2.gsu.edu/~psydlr/Diana_L._Robins,_Ph.D._files/M-CHATIn
terview.pdf

M-CHAT: Does your child...

Like to be swung?
Take interest in other
children?
Like climbing?
Enjoy peek-a-boo?
Ever pretend to talk on the
phone?
Ever use index finger to
point to ask? To indicate
interest?
Play properly with small
toys?
Bring objects to show?
Look you in the eye?
Seem oversensitive to
noise?

Smile in response to you?

Imitate you?
Respond to name?
If you point, does he
look?
Walk?
Look at things you are?
Make unusual finger
movements near face?
Act as if deaf?
Understand what people
say?
Stare at nothing?
Look at your face to check
reaction?

Robins et al, 1999

Modified Checklist for Autism in

Toddlers (MCHAT)
Positive Predictive Value (.57) Robins, Autism.
2008 Sep;12(5):537-56.
Proportion of children with a (+) test who have
an autism spectrum disorder, Moderate
9.7% of 4797 children screened +
61/362 + after interview
4/21 cases confirmed at 4 yrs were identified by
the pediatrician
17/21 cases not confirmed at 4 yrs had another
developmental diagnosis
Age range: 16-36 months

23 Questions:
-2 of critical items or any 3 items

Barriers to Screening in
Office Practice
Screening tests too long and difficult
Children uncooperative
Reimbursement limited

96110 for Screening tests like MCHAT

25 modifier if MD interprets and E/M code billed
Have families return for counseling visit
Code for time and counseling

Do not want to alarm parents

Belief that delays will improve on their own
Referral resources unfamiliar or unavailable

Evaluation and Intervention

Services:

Birth to 3 years: Early Intervention

3-5 Years: School district
5-21 Years: School district
Transition age planning and young
adult service referrals
Assessment includes: IQ, Speech
and Language, Adaptive, Motor,
Social and Emotional, and Hearing

EI Referral Form

Diagnostic Evaluation:
Application of DSM IV Criteria:
History
Observational Measure

Medical History and Physical

Behavioral History
Family History: Genetic risk factors

Assessment of Parental
Understanding, coping skills and
resources

Community Resources

Specific aspects of history to

target in children with ASDs:
Seizures
GI concerns:
Diarrhea/constipation/bloating/pain

Sleep problems:
Night waking, delayed sleep onset

Feeding behaviors:
Aversions based on taste/texture/appearance
Monitor growth and nutrition

Tics
In as many as 9% of children

Medical Work Up
Genetic Testing

Karyotype- 5% yield
Microarray- 6-27%
Fragile X-1-2%
MeCP2
FISH Chr 15 -1%

$400
$600-3500
$500
$1400
$680

Metabolic
Testing

Amino Acids-<1%
Organic Acids<1%

$299
$280

Neuroimaging

MRI, any lesion-up to

48%

$400-$3500

EEG

Any abnormality-16-68%
Seizures- 25% lifetime

$650

Other

Lead- no data, low

$11

A Good
History and
Physical is
the basic
medical
work up for
ASD.

Key Points
Medical home = center for ongoing
management
Cornerstone of treatment
Educational interventions, developmental and
behavioral strategies

Early, intensive intervention is vital

Pediatricians can support families by
providing information and access to
resources
Myers SM, Johnson CP, and the Council on Children with Disabilities,
Pediatrics 2007;120:1162-1182

The Autism Toolkit

AUTISM: Caring for Children
With Autism Spectrum
Disorders: A Resource Toolkit
for Clinicians was developed by
the AAP Autism Subcommittee to
support health care professionals
in the identification and ongoing
management of children with ASDs
in the medical home

Medical Management of
Children with ASD Includes:
Effective treatment of coexisting medical
problems such as seizures, challenging
behaviors, and sleep disorders may allow
the child to benefit more fully from
educational interventions
Medication management of symptoms of
inattention, impulsivity, irritability,
aggression
Pediatricians can help families to
understand how to evaluate the evidence
regarding Complementary and
Alternative therapies

ASD Management
Outcomes are variable
Behavioral characteristics change over time
Most remain on spectrum as adults
Ongoing problems with independent living,
employment, social relationships and mental health

Predictors of better outcome

Earlier age of diagnosis and treatment

No cognitive impairment
Early language and nonverbal skills
Social skills
Not presence, degree of autistic symptoms

Treatment
Goals
Minimize core features and associated deficits
Maximize functional independence and QOL
Alleviate family stress

Educational intervention
Developmental Therapies
Communication
Sensory, fine motor, gross motor

Behaviorally Based treatments

Core and associated symptoms
Social skills

Medical or biologic treatments

Support family in home and community

Education
Cornerstone of
management
Curricula should
include

Academic learning
Socialization
Adaptive skills
Communication
Ameliorization of
interfering behaviors
Generalization of
abilities across
environments

Effective programs
Use assessment based
curricula to address these
goals
Include combinations of
strategies and treatment
modalities
Incorporate strong
components of family
training and support

Programs differ in
philosophy & emphasis
Myers & Johnson, PED 2007

Behavioral Intervention
ABA (Applied Behavioral Analysis)
General behavioral teaching approach involves
reinforcement and consequences to shape
behavior
All of our parents used it!

Involves the A, B, Cs
Not airway, breathing circulation
Antecedent
Behavior
Consequence

Also known as ABA, EIBI, DTT, DTI, etc.

Evolution of ABA
Methodology includes a data based approach to
skill acquisition in a developmental format, using
principles of Applied Behavioral Analysis
Types

Discrete Trial Teaching or Instruction (Lovaas)

Pivotal Response Training (PRT)
Natural language approach
Applied Verbal Behavior (AVB)
DIR (Developmental, Individual Difference,
Relationship-Based), AKA floortime
RDI (Relationship Development Intervention)
Others.

Principles can/ should be integrated into

classroom curricula

Speech/Language Therapy
Behaviorally based/ intensive structured teaching
E.g., Verbal Behavior

Augmentative strategies
Sign language
PECS
Aided augmentative/ alternative system(s)

Decrease non-communicative language

Developmental-pragmatic approaches
appropriate use of language in social situations
e.g., SCERTS
Social skills training

Developmental: Motor
OT
Fine motor
coordination
Adaptive skills
Sensory Integration
Addresses sensory
abnormalities
Systematic
desensitization
No evidence of
corresponding
neurological changes

PT
Coordination
difficulties
Natural
environment
Adaptive physical
education or in the
community
Hippotherapy

Medical Management
Comorbid Symptoms or Conditions
High rates of co-morbidity
Tic disorders (9%)
Seizures (to 25%)
ADHD (30-75%)
Affective Disorders (25-40%)
e.g., depression or anxiety
Higher in HFA/ Aspergers
GI Problems (10-60%)
Sleep Disturbance (50-75%)
Challenging Behaviors (10-35%)

Psychopharmacology
Adjunct to educational,
Treat target symptoms
developmental &
Stereotypies
behavioral treatments
Withdrawal
So far no evidence of
Obsessions
impact on core symptoms Irritability
Evidence supporting is
Hyperactivity
variable
attention span
Toolkit handouts for MD
& families

self-injurious behavior
Aggression
sleep

Psychopharmacology
Symptoms/ Disorders
Attentional, impulsivity,
hyperactivity

Freq
59%

Treatments
Behavioral intervention
Psychopharmacotherapy stimulants, atomoxetine,
alpha agonists, anti-anxiety

Anxiety

43-84%

Behavioral treatment relaxation, cognitive

Psychopharmacotherapy SSRI, alpha agonist

Depression

2-30%

Psychotherapy
Medication anti-depressants

Obsessive compulsive
symptoms

37%

Behavioral treatment, supportive counseling;

Medication SSRI, others

Disruptive, irritable or
aggressive behavior

8-32%

Behavioral intervention
Medication atypical neuroleptics (risperidone,
arapiprazole, others)

Self-injurious behavior

34%

Behavioral intervention
Medication (e.g., naltrexone, risperidone, others)

Tics

8-10%

Medications; Alpha agonist (clonidine, guanfacine),

others

Sleep disruption

52-73%

Sleep diary; sleep hygiene; behavioral supports;

investigate possible medical comorbidity/ies as
cause(s)

CAM Treatments Used in

Children with ASD
Mind-body Medicine
Yoga
Music Therapy

Manipulative and
Body-based
Chiropractic
Massage/Therapeutic
Touch
Auditory Integration

Energy Medicine
Transcranial &
magnetic stimulation

Biologically Based

Most commonly used

~ 50% - biologically based
30% - mind body
25% - manipulation/ body
based
** Most use > 1 modality

Biologically Based CAM

Supplements

B6/Magnesium, B12
DMG/ TMG
Vitamin A, Vitamin C
Folate
Omega 3 Fatty Acids

Elimination Diets
Casein/ gluten free

Off-label
medications

Immune

Antifungal therapy
Immunotherapy, steroids
Antibiotics/Antivirals
Stem cell transplantation

Immunization-related
With-hold immunization
Chelation

Hyperbaric oxygen
therapy (HBOT)

Secretin
Always others coming along

CAM
Commonly used, especially in CSHCN
ASD ranges 30-90%

Many factors associated

fear of drug effects, desire to cure condition,
family use of CAM for other purposes

Evidence for efficacy for most treatments

not strong
Some biologically based treatments have
been studied, with evidence based support
(melatonin) or refuted (secretin)
Many with potential serious side-effects (e.g.,
chelation, HBOT)

Gluten Free/ Casein Free

Diet

One of most commonly used CAM treatments

Hypothesis :

Exogenous opiate-like peptides = false neurotransmitters

Evidence most non-blinded; few RCT emerging, no
differences

Requires
elimination of ALL dairy products (not GFCF except for ice
cream) & elimination of barley, rye, oats & wheat products

Potential deficiencies
Inherently deficient in calcium, vitamin D
B vits, Iodine, others may be lower in substitute products
Weight typically adequate, monitor Fe status

Toolkit Content

The fully searchable CD-ROM has an extensive library of ASDspecific information and practice tools:
Screening and surveillance algorithms
Examples of screening tools
Guideline summary charts
Management checklists
Developmental checklists
Developmental growth charts
Web links
Early intervention referral forms and tools

Record-keeping tools
Emergency information forms
ASD coding tools
Reimbursement tips
Sample letters to insurance companies
ASD management fact sheets
Family education handouts

Toolkit Content
Fact sheets for primary care professionals
(PDF files)

Topics

Asperger syndrome
Behavioral principles
CAM Treatments
Dietary tx
Eating & nutrition

GI problems

Treatment decision
Psychopharmacology
Seizures & Epilepsy
Sleep disorders
Toilet training

Toolkit Content
Fact sheets for primary care professionals to
give families (PDF files)
Topics

Behavioral challenges
Diet
Early intervention
GI problems
Childhood to adolescence
Guardianship
Lab tests
Medication
Nutrition & eating problems
School based services

Seizures & epilepsy

Sibling issues
Sleep problems
Support programs for
families
Toilet training
Transition to adulthood
Vaccines
Visiting the doctor

Questions?