M-CHAT: Does your child...

2. 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? M-CHAT: Does your child... http://www2.gsu.edu/~psydlr/Diana_L._Robins,_Ph.D._files/M-CHATInterview.pdf Robins et al, 1999

3. 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

4. Diagnostic Assessment Battery for Toddlers Developmental tests: e.g., Mullen Scales of Early Development Autism-specific delays and abnormalities: Autism Diagnostic Observation Schedule –Toddler Version Communication: Communication and Symbolic Behaviors Scale Adaptive skills: Vineland Adaptive Behaviors Schedules-II Medical and developmental history interview Genetic and neurological testing

5. How are conventional developmental milestones 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

6. Do parents provide reliable information regarding their child’s development? • 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.

7. Unusual Stereotypic Behaviors • Lines up toys or objects in obsessive manner • Lacks ability to play with toys • Prefers to be alone • Likes to spin self or objects • Uses repetitive words or phrases (echolalia) • Displays self-injurious behaviors • Acts as if deaf • Lacks normal fear • Displays and flapping and/or toy walking • Rocks or bangs head • Arches back • Little or no eye contact • Does not respond to name • Has a language delay • Does not share interest in object or activity with a preferred adult • Displays rigidity and gets stuck on certain activities • Expresses insistence on sameness and resistance to change • Inappropriate play or behavior demonstrated • Tantrums easily • Unusual motor behaviors or motor planning • Odd hand and finger mannerisms

8. Sensory Aversions • Over-or-under reactive sensory input • touch, sound, taste, sight, hearing • Over-arousal and regulatory issues • Difficulty processing sensory information

9. Physiological Concerns • Frequent gastrointestinal issues (reflux, stomach pains, diarrhea, constipation) • Very picky or unusual eating habits • Rigid preference for certain foods (dairy, gluten) • Other co-morbid disorders (mental retardation, seizures, hyperactivity, immune dysfunction, anxiety, depression, OCD, etc.) • Large head circumference • Regression or loss of skills • Low muscle tone • Frequent ear infections • Difficulty sleeping or unusual sleep patterns • Dysmorphic features

10. Other Concerns • Sibling of a child with autism spectrum disorder • Familial presence of other warning signs

11. The Basics of Autism • 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

12. Spectrum of Autism Severity • 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

13. 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

14. 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: • Eye contact • Social referencing • Imitation • Orientation to name • Shared attention and affect • Early recognition and identification of autism-->early behavioral markers of autism

15. 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

16. Screening Results • Routine monitoring • Referral for services and supports & heightened monitoring • Assessment, referral for services and supports as needed, & heightened monitoring • 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.

17. Genetics • Sibs affected in 3%: core syndrome • Sibs affected in 10-20%: spectrum disorder • Identical twins affected in 60-90% • Non-identical twins affected in 0-3% • All of these findings refer to probands with autism proper, not spectrum disorders

18. Genetics • Genes on certain chromosomes (e.g. 2, 6, 7, 16, 18, 22, and X) may be important (genome scan studies of sib-pairs) • Clinical findings in particular syndromes such as partial tetrasomy 15 (15q), Angelman (15q), tuberous sclerosis (9q, 16p), fragile X (X), Rett syndrome (X), Turner syndrome (X)