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Early Identification of Autism in Primary
Care
Anthony Malone M.D.CapitalCare Developmental-Behavioral Pediatrics
Goals for the Presentation 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.
ORWe have stopped universal screening for
TB but have added universal developmental/behavioral screening.
The Role of Primary Care in
AutismCase Finding
Differential DiagnosisFamily Support and Advocacy
Reasoned Treatment
Why Screen?Does Early Detection Matter?
What We Don’t Want: A Real What We Don’t Want: A Real CaseCase 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? Experience of CapitalCare Developmental-
Behavioral 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 “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 ScreenAAP Approaches: From Principle to
Practicality
PEDIATRICS Volume 120, Number 5, November 2007
AAP Guidelines for Screening and AAP Guidelines for Screening and Surveillance: The Bottom LineSurveillance: The Bottom Line
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 Developmental SurveillanceSurveillance
Clinical Skills, Partnerships with Parents and Ongoing Monitoring
Developmental Surveillance 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 SurveillanceDevelopmental Surveillance Eliciting and attending to the parents’ concerns
about their child’s development 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 SurveillanceDevelopmental Surveillance 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. 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
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.
ƒ Strong an interest in objects ƒ Diminished babblingƒ Lack of well developed imitation skillsƒ Lack of social smileƒ Lack of appropriate facial expression ƒ Passive temperament or being undemanding of
parental attention.ƒ Limited (or no) giving or showing of objects ƒ Hyper-or hypo responsiveness to sensory stimuliƒ Failure to look up or orient toward a voice for name
First year Surveillance CluesFirst year Surveillance Clues
ƒ “Deterioration” commonly perceived by parents.
ƒ Problems in responsive smiling ƒ Poor or inconsistent response to nameƒ Not following or initiating pointingƒ Not looking to "read" facesƒ Poor Initiation of requesting behaviorsƒ Dysfunctional play, repetitive play with objects.ƒ Difficult to examine, highly anxious
Second Year Surveillance CluesSecond Year Surveillance Clues
Video Glossary and Video TrainingVideo Glossary and Video Training
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. 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-care-centers/center-autism-and-related-disorders/outreach-training/early-signs-of-autism-video-tutorial
What Screening Tools are Available?
Screening Instruments: BroadbandScreening Instruments: Broadband
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 Developmental Screening Instruments: Autism specificInstruments: Autism specific Modified Checklist for Autism in Toddlers (M-
CHAT) The Modified Checklist for Autism in Toddlers (M-
CHAT), 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
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?
Modified CHATModified CHAT
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 ScoringMCHAT Scoring 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), 131-144.
MCHAT Follow Up Interview 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?
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.
Majority of children but not all who fail the M-CHAT also receive moderate or at-risk scores on PEDS.
Infant-Toddler ChecklistCommunication and Symbolic Behavior Scales Developmental Profile (CSBS DP™)
Amy M. Wetherby, Ph.D., CCC-SLP, & Barry M. Prizant, Ph.D., CCC-SLP
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
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 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? 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-BabyCheck-Up Approach 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 follow-up. 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
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 How to Implement a Screening a Screening
ProgramProgram
You Have a Successful Model of
Screening AlreadyGrowth Charts
Blood PressuresVision/Hearing
Anemia
AAP Autism Toolkit
How to Implement: Our Troy Experience
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 Heavy emphasis on surveillance
Clinicians who are alert to developmental differences
Most of our identified cases are discovered prior to any formal screening
How to Implement: Troy Experience Leadership: those interested in successful
program need a voice and power for implementation and improvements
How to Implement: Troy Experience Gradual switch to ASQ and MCHAT
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 96110 “developmental screening” charge
experience $20 charge for screening Some insurers don’t reimburse Average reimbursement is $10.40
Screening Implementation Worksheet: Step by Step 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 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 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.
The Primary Care Role
Case FindingDifferential Diagnosis
Family Support and AdvocacyReasoned Treatment
What We Do Want?What We Do Want? 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 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, outcome-based 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 ParentsThe 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 Course on Developmental Screening:
http://www.pedialink.org/cmefinder/search-detail.cfm/key/311F54AC-2CD0-4AF2-939E-5AE7800367CD/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 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 "self-sufficient"; "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 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 mem ory 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
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 Social-Communication Deficits Fixated interests and repetitive behavior or
activity
The Major Changes
Eliminates the previously separate subcategories on the autism spectrum, including Asperger syndrome, PDD-NOS, 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 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 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 Past history will be taken into account
Previous hx of repetitive behaviors not currently present counts toward dx
Softening the criteria of the age of onset of symptoms. 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 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 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 Restricted, repetitive patterns of behavior,
interests, or activities as manifested by at least two of the following: 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 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 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 ParentsThe 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.