Transcript Autism - Infant & Toddler Connection of Virginia

American Academy of Pediatrics Guidelines, 2007
Colleen A. Kraft, M.D., FAAP
The Basics of Autism
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Onset during first 3 years of life
Chronic lifelong course
Male: female ratio = 4:1
Underlying neurological dysfunction
Genetic factors in etiology
Spectrum of severity
Autism Basics
 Kanner’s Description
 Leo Kanner (1943) classic paper
 Description of 11 children with previously undescribed
syndrome
 Characteristics
 Inability to relate to others
 Failure to use language to convey meaning
 Obsessive desire for the maintenance of sameness
 Anxiety
 Congenital onset
 Co-morbidity
 Observations to empirical support
The Autism Spectrum
 Milder disorders
 Asperger syndrome
Fewer symptoms, no language delay
 Pervasive Developmental Disorder-NOS
 Sub-clinical manifestations
 The broader autism phenotype in family members
 Language delay
 Shyness, social reticence
 Rigidity, focused interests
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DSM-IV Core Characteristics:
Criteria for Autistic Disorder
 Deficits in reciprocal social interaction
 Impairments in verbal and nonverbal communication
 Restricted, repetitive or stereotyped behaviors and
interests
DSM-IV Diagnoses
 Five specific spectrum diagnoses used by DSM-IV:
 Autistic disorder
 Asperger disorder
 Rett disorder
 Childhood disintegrative disorder
 Pervasive developmental disorder-NOS
Meeting Criteria For Autism
 Individual must demonstrate at least 6 of the 12
symptoms
 At least 2 symptoms from the social domain
 At least 1 symptom from communication domain
 At least 1 symptom from the restricted
behaviors/interest domain
 At least 1 symptom must have been present before 36
months of age
Since Kanner: What Do We Know?
 Autism is a Spectrum Disorder
 Autism Spectrum Disorders are Not Rare
 Autism is a Developmental Disorder
 Autism is a Neurodevelopmental Disorder with a
Biological Basis
 Autism Can be Identified Early
Autism Spectrum Disorders Are
Common
 Increase in prevalence
 3-4 times higher than suggested in 1970s
 1.5 times higher than thought in 1980s and 1990s
 Proposed explanations:
 Better identification
 Sensitive diagnostic tools
 Broader classification systems
 Environmental factors
Autism is a Developmental Disorder
 Accurate diagnosis of autism required significant
knowledge of typical development in the following
areas: social, communication, cognitive skills, and
play skills.
 Understanding developmental profiles: must
know what is typical for development and atypical
for development at any age.
Autism is a Neurodevelopmental Disorder with
a Biological Basis
 Genetic factors
Recurrence risk for autism after the birth of one child
with disorder is 3-6%
 Concordance rate for autism in monozygotic twins is
60% (and up to 90% when social and communication
abnormalities included)
 Genome projects and molecular genetic studies
 Broader Phenotype factors
 Organic Brain Disorder
 fMRI, MRI studies demonstrate: increased head
circumference, brain volume, brain region deficits
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Autism Can Be Identified Early
 Most common initial symptom reported by parents is
delayed (or abnormal) speech development
 Social-communicative abnormalities in the first and
second year of life:
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Eye contact
Social referencing
Imitation
Orientation to name
Shared attention and affect
 Early recognition and identification of autism-->early
behavioral markers of autism
Autism…What We Know
 Between 60,000 and 115,000 children under 15 years of age
in the US meet diagnostic criteria for autism.
 The diagnosis of autism often is not made until 2-to-3 years
after symptoms are recognized, primarily due to concerns
about labeling or incorrectly diagnosing the child.
 Identifying children with autism and initiating intensive,
early intervention during the preschool years results in
improved outcomes for most young children. Early
diagnosis of autism and early intervention facilitates earlier
educational planning.
Family Experiences
 Out of 1,300 families surveyed:
 The average age of diagnosis of autism was 6 years of age,
despite the fact that most parents felt something was
wrong by 18 months of age
 Less than 10% of children were diagnosed at initial
presentation
 10% were either told to return if their worries persisted, or
that their child "would grow out of it"
 The rest were referred to another professional (at a mean
age of 40 months); of which:
 40% were given a formal diagnosis
 25% were told "not to worry"
 25% were referred to a third or fourth professional
AAP Guidelines
 Identification requires two levels of investigation.
 Screening and Surveillance
 Diagnosis/Referral and Coordination of Care
 For these two areas of investigation, specific
clinical questions were defined, clinical evidence
was summarized, and diagnostic
recommendations were developed.
Developmental Surveillance and
Screening
• Should be performed on all children.
• Involves first identifying those at risk for any type of
atypical development, followed by identifying those
specifically at risk for autism.
• Mental retardation or other medical or
neurodevelopmental conditions require separate
evaluations and are not within the scope of this
document.
Developmental Screening
 Approximately 25% of children in any primary care
practice show developmental issues.
 Fewer than 30% of primary care providers conduct
standardized screening tests at well-child
appointments.
 The American Academy of Pediatrics (AAP) stresses
the importance of a flexible, continual developmental
surveillance process at each well-child visit, and
recommends eliciting and valuing parental concerns,
probing regarding age-appropriate skills in each
developmental domain, and observing each child.
Developmental Screening Tools
 Developmental screening tools are formulated based on
screening of large populations of children with
standardized test items.
 Sensitive and specific screening instruments include: the
Ages and Stages Questionnaire, the BRIGANCE® Screens,
the Child Development Inventories, and the Parents’
Evaluations of Developmental Status.
 The Denver-II has been the traditional tool used for
developmental screening, research has found that it is
insensitive and lacks specificity.
How Are Norms Defined?
 Conventional language milestones are based on normative data from
standardized language instruments for infants. Failure to meet these
milestones is associated with a high probability of a developmental
disability.
 Lack of acquisition of the following milestones within known accepted
and established ranges is considered abnormal:
 no babbling by 12 months
 no gesturing (e.g., pointing, waving bye-bye) by 12 months
 no single words by 16 months
 no 2-word spontaneous (not just echolalic) phrases by 24 months
 any loss of any language or social skills at any age
Parental Concern
 In several studies (n=737 children), parental concerns
about speech and language development, behavior, or
other developmental issues were highly sensitive (i.e.,
75% to 83%) and specific (79% to 81%) in detecting
global developmental deficits.
 The absence of such concerns had modest specificity in
detecting normal development (47%).
 In a study that combined parental concern with a
standardized parental report found this to be effective
for early behavioral and developmental screening in
the primary care setting.
How Early?
 There are no biological markers for autism, so
screening must focus on behavior.
 Studies comparing autistic and typically
developing children show problems with eye
contact, orienting to one’s name, joint attention,
pretend play, imitation, nonverbal
communication, and language development are
measurable by 18 months of age.
 Current screening methods may not identify
children with milder variants of autism, those
without mental retardation or language delay
Autism in Siblings?
 The incidence of autism in the general
population is 0.2%, but the risk of having a
second (or additional) autistic child
increases almost 50-fold to approximately 10
to 20%.
Best Practice for Screening for ASD
 Autism can be identified in very young children.
 Screening for ASD should be conducted in
conjunction with routine developmental surveillance.
 Because parents are the experts regarding their
children, eliciting and valuing parental concerns is
imperative.
Screening Instruments for ASD
 Screening tools specific to ASD:
 The Checklist for Autism in Toddlers (CHAT)
 The Modified Checklist for Autism in Toddlers
(M-CHAT)
 The Screening Tool for Autism in Two-Year-Olds
(STAT)
 The Stage 2-Pervasive Developmental Disorders
Screening Test (PDDST-II)
Screening Tool: M-CHAT
 M-CHAT (Robins et al., 2001) is 23-item checklist designed
as a screen fro ASD at 24 months of age.
 Form consists of yes/no format that parents fill out.
 Spanish translation available.
 Demonstrated validity in identifying the majority of
children with ASD and developmental delay at 24 months
Screening Tool: M-CHAT
 Sample items from M-CHAT
 Does your child look at your face to check your reaction when faced with
something unfamiliar?
 Does your child ever use his/her index finger to point, to indicate interest
in something?
 Does your child ever bring objects over to you (parent) to show you
something?
 Does your child respond to his/her name when you call?
ASD Screening in Conjunction with Routine
Developmental Surveillance
 Best practices recommend that all children be screened specifically for ASD
at ages 18 and 24 months.
 Clinical signs or “red flags” exist that can help identify children at risk for
delay and/or ASD. Indicators include:
 No babbling by 12 months of age
 No back and forth gestures such as pointing, showing, reaching, waving by 12
months
 No words by 16 months
 No two-word meaningful phrases (does not include imitation or repetition) by 24
months
 ANY loss of speech, babbling or social social skills at ANY age.
Elicit and Value Parental Concerns
 All professional encounters with young children should be
viewed as an opportunity to elicit developmental
information.
 Advantages (Glascoe, 1999):
 Concerns are easy to elicit
 Inquiry is brief
 Does not involve challenge of eliciting skills from young
children
 Provides family-centered approach to addressing
problems
 Can facilitate a wide range of options including
parenting education, reassurance, referral, or further
screening or developmental testing
Recommendations
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Developmental surveillance should be performed at all
well-child visits from infancy through school-age, and at
any age thereafter if concerns are raised about social
acceptance, learning, or behavior (Guideline).
Recommended developmental screening tools include
the Ages and Stages Questionnaire, the BRIGANCE®
Screens, the Child Development Inventories, and the
Parents’ Evaluations of Developmental Status
(Guideline).
Recommendations
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Because of the lack of sensitivity and specificity, the
Denver-II (DDST-II) and the Revised Denver PreScreening Developmental Questionnaire (R-DPDQ) are
not recommended for appropriate primary-care
developmental surveillance (Guideline).
Further developmental evaluation is required whenever a
child fails to meet any of the following milestones
(Guideline): babbling by 12 months; gesturing (e.g.,
pointing, waving bye-bye) by 12 months; single words by
16 months; two-word spontaneous (not just echolalic)
phrases by 24 months; loss of any language or social skills
at any age.
Recommendations
Siblings of children with autism should be carefully
monitored for acquisition of social, communication, and
play skills, and the occurrence of maladaptive behaviors.
Screening should be performed not only for autismrelated symptoms but also for language delays, learning
difficulties, social problems, and anxiety or depressive
symptoms (Guideline).
6. Screening specifically for autism should be performed on
all children failing routine developmental surveillance
procedures using one of the validated instruments—the
CHAT or the Autism Screening Questionnaire
(Guideline).
5.
Screening Results
 Screening results are
consistent with typical
development. No signs of
developmental delays or risk
factors identified.
 Screening results are
consistent with typical
development; however,
presence of risk factors.
 Screening results indicate a
possible delay or disorder.
Risk factors may be
identified.
 Routine monitoring
 Referral for services and
supports & heightened
monitoring
 Assessment, referral for
services and supports as
needed, & heightened
monitoring
Referral of Child with Possible ASD
 Confusion surrounding referral process--major barrier to
screening:
 Need resource directory, contacts for individuals and
teams, referral process explanation, etc.
 Next Steps:
 Conveying information to families
 Supporting Documentation for referral
 Where to Refer:
 Developmental Pediatrician
 Part C
 School System
Diagnosis
Who should diagnose autism?
2. What are the medical and neurologic concerns
in evaluating children with autism?
3. What are the specific deficits of the autistic
child’s developmental profile?
4. When and what laboratory investigations are
indicated for the diagnosis of autism?
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Diagnosis
 Although educators, parents, and other health care
professionals identify signs and symptoms
characteristic of autism, a clinician experienced in the
diagnosis and treatment of autism is usually necessary
for accurate and appropriate diagnosis.
 Clinicians must rely on their clinical judgment, aided
by guides to diagnosis, such as DSM-IV as well as by
the results of various assessment instruments, rating
scales, and checklists.
 These instruments and criteria should be used by
practitioners not as experienced in the diagnosis of
autism.
Core Concepts that Guide Screening,
Diagnosis and Assessment in Autism
 DSM-IV is current classification standard for establishing
diagnosis of ASD.
 Early identification is essential for early therapeutic
intervention and leads to a higher quality of life for family
and child.
 Informed clinical judgment is a required element of a
screening, diagnostic and assessment process.
 Accurate screening and assessment requires collaboration
and problem solving among professionals, service agencies
and families
Core Concepts that Guide Screening,
Diagnosis and Assessment in Autism
 An interdisciplinary process is the recommended means
for developing a coherent and inclusive profile for an
individual at risk for or diagnosed with ASD.
 From screening through intervention planning, the
evaluation process must be family-centered and culturally
sensitive.
 From time of screening--timely
referral and
coordination of evaluation and ongoing assessment
enhances outcome.
 Rapid developments in the field require regular review of
current best practice procedures and up-to-date training
Autism Guidelines
 Screening with Surveillance
 Parent Concerns
 How to handle “at risk”
 Medical testing
 Referral for further diagnosis
 Coordinated care and Medical Home
Autism Treatment Guidelines
 Educational Interventions
 Medical Managmenent
 Guidelines
 www.medicalhomeinfo.org
Educational Interventions
 Early Intervention
 Active engagement 25hr/wk, 12 months/yr
 Low student/teacher ratios, encourage 1 on 1
 Inclusion of a family component
 Opportunity for interaction with developmentally
appropriate peers
 Ongoing measurement, adjustment of programming
as needed
 Structure and Transitions
Educational Interventions
 Applied Behavior Analysis
 Functional Behavior Analysis
 Structured Teaching
 Developmental Models
 Speech and Language Therapy
 Social Skills Instruction
 Occupational/Sensory Integration Therapy
Medical Management
 Seizures
 Epilepsy in 11-39%
 MR prevalence is 42%
 Higher abnormalities in EEG with history of regression
 Genetics
 More chromosomal abnormalities detected
 Classic-Chromosome 15
 Emerging-Chromosomes 7 and 16
Laboratory Testing
 Genetic testing A chromosomal abnormality reported
in possibly more than 1% of autistic individuals
involves the proximal long arm of chromosome 15
(15q11-q13), which is a greater frequency than other
currently identifiable chromosomal disorders.
 Metabolic testing Inborn errors in amino acid,
carbohydrate, purine, peptide, and mitochondrial
metabolism, as well as toxicologic studies have been
studied, but the percentage of children with autism
who have a metabolic disorder is probably less than
5%.
Imaging and EEG
 Electrophysiologic testing The prevalence of epilepsy in
autistic children has been estimated at 7% to 14%, A higher
incidence of EEG abnormalities in autistic children with a
history of regression has been reported when compared to
autistic children with clinical epilepsy.
 Neuroimaging CT and MRI studies of autistic children
screened to exclude those with disorders other than autism
confirmed the absence of significant structural brain
abnormalities
Other Tests?
 Formal audiologic evaluation All children with
developmental delays, particularly those with delays in
social and language development, should have a formal
audiologic hearing evaluation (American Speech–
Language–Hearing Association).
 Lead screening The National Center for Environmental
Health of the Centers for Disease Control and Prevention
recommends that children with developmental delays,
even without frank pica, should be screened for lead
poisoning.
Insufficient Evidence
 hair analysis for trace
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elements
celiac antibodies
allergy testing (particularly
food allergies for gluten,
casein, candida, and other
molds)
immunologic or
neurochemical
abnormalities
micronutrients such as
vitamin levels
 intestinal permeability
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studies
stool analysis
urinary peptides
mitochondrial disorders
(including lactate and
pyruvate)
thyroid function tests
erythrocyte glutathione
peroxidase studies
Medical Management
 Gastrointestinal Complaints
 40 to 85% of Children with ASD
 Most commonly constipation or diarrhea
 Some preliminary evidence of immunohistochemical
features unique to inflammation seen in ASD
 Evaluate/Treat kids with GI problems in ASD
Medical Management
 Sleep Disturbances
 Noted in 35-85% in literature
 May be some evidence for melatonin regulation
abnormality
 Melatonin has been found useful in some studies
 Clonidine and other sleep agents found to be helpful
anecdotally
Medical Management
 Evaluation of Challenging Behaviors
 Acutely there may be a problem, ie, Otitis Media or
Pharyngitis
 Menstrual Pain
 Keep in mind physical pain, if ruled out look at
functional behaviors
Medical Management
 Psychopharmacology
 Aggression
 Anxiety/OCD
 Sleep Disturbance
 Mood Lability
 Hyperactivity
 Self-injurious behavior
 Can be co-morbid anxiety disorder, ADHD, bipolar
disorder
 45% Children and 75% Adults on medication
Complementary/Alternative
 Diets
 Megavitamins
 Craniosacral manipulation
 Behavioral Optometry
 Chelation
Complementary/Alternative
 Seek Additional Information
 Overly simplified scientific theory
 Therapy “effective” for multiple conditions
 Claim of “cure”
 Anecdotal data instead of carefully designed studies
 Lack of peer-reviewed references
 Treatments with “no side effects”
Family Support
 Parents
 Siblings
 Need for support is lifelong
 Strong Roots for a Healthy Future
 Medical Home Plus….www.medicalhomeplus.org
Thank You!