AUTISM SCREENING AND DIAGNOSIS PEARLS FOR PEDIATRICS Catherine Riley, MD Developmental Behavioral Pediatrician
Disclosure I do not have any financial relationships to disclose I do not plan to discuss unapproved of off label use of products
Objectives 1. Identify appropriate screening tools used by pediatricians to identify risk factors related to possible ASD. 2. Describe the areas of atypical development associated with a diagnosis of ASD. 3. Explain the diagnostic criteria of autism spectrum disorders.
Why is Screening Important? Early Identification of children at risk for developmental disabilities Early Evaluation and Diagnosis for developmental conditions Early Intervention and services Improved child, family, and society outcomes Research has shown that the earlier you intervene the more effective and less costly your intervention will be and the bigger the effect on the child s developmental trajectory. Center on the Developing Child at Harvard University (2008, 2010)
Why Screen? 70% 7 out of 10 children with developmental disabilities were not identified until they started school 67% Clinical assessment without screening missed delays in 2 out of every 3 children under the age of 2 (Palfrey, J.S., et al., Early identification of children's special needs: a study in five metropolitan communities. J Pediatr, 1987. 111(5): p. 651-9) Hix-Small, H., et al., Impact of implementing developmental screening at 12 and 24 months in a pediatric practice. Pediatrics, 2007. 120(2): p. 381-9)
Benefits of Autism Screening 54% diagnosed with Autism Spectrum Disorders Of children who fail the M-CHAT Screen 89% diagnosed with developmental delay 98% show a developmental concern warranting evaluation Chlebowski C et al. Large-scale use of the modified checklist for autism in low-risk toddlers. Pediatrics. 2013 Apr;131(4):e1121-7
Developmental Screening in Arizona 21.7% of children age 10 months to 5 yrs received standard developmental screening during a well child visit Rank 47 in the country in 2016 (based on data from 2011-2012) There is a lot of room for improvement
AAP Screening Algorithm Identifying Infants and Young Children With Developmental Disorders in the Medical Home: An Algorithm for Developmental Surveillance and Screening Council on Children With Disabilities, Section on Developmental Behavioral Pediatrics, Bright Futures Steering Committee and Medical Home Initiatives for Children With Special Needs Project Advisory Committee Pediatrics 2006;118;405 DOI: 10.1542/peds.2006-1231
Jack, a 24-month-old boy, comes in for a well-child visit. His mother reports he says a couple words, drags her to the fridge when he wants something and tantrums a lot. Upon review of his records you note he had reached all of his developmental milestones on time. What is the next best step to take? A. Advise Jack s mother to wait and see if he outgrows it; he may be a late bloomer B. Encourage Jack s mother to arrange more play dates for him C. Recommend a behavioral reward system be implemented for Jack s behavior D. Ask Jack s mother to complete an autism specific screening questionnaire
AHCCS Approved Screening Tools Autism Screens Modified Checklist for Autism in Toddlers Revised with Follow-Up (M- CHAT-R/F)
MCHAT-R/F The M-CHAT-R is a parent-completed questionnaire Valid for toddlers between 16-30 months The M-CHAT-R includes a Follow-Up Interview, in which the parent is asked questions to help clarify answers and obtain additional information for at-risk items. Sensitivity of the M-CHAT-R with Follow-Up is 85% and Specificity is 99%. Evaluation is warranted for any child who screens positive.
M-CHAT-R/F Paths
Case--Matthew Matthew -18 months old and is coming in for a routine health care maintenance visit. As you enter the room, you smile at Matthew and ask his mother and father how he s doing. Great, they reply. He loves to explore our apartment and laughs like crazy when we play peek-a-boo. We have started taking him to the park, and he enjoys playing with blocks. You do a physical exam on Matthew and note that he has said very few words. His eye contact is variable. When you ask about his language, Matthew s parents indicate that he only has a couple of words. It is a bilingual household. Although Matthew is a quiet and sweet boy, you remain concerned about his language and variable eye contact. Given his age, Matthew should have an ASD-specific screening as well as a general developmental screening as part of his 18-month checkup.
-Parents complete the MCHAT R/F If the M-CHAT-R Total Score is in the High-Risk category for ASD (total score of 8-20 points), refer for a comprehensive diagnostic evaluation and eligibility evaluation for early intervention If the M-CHAT-R Total Score is in the Medium-Risk for ASD (total score of 3-7 points), conduct the Follow-Up interview. If the Follow-Up Interview raises concerns, or if the child fails any two items on the Follow-Up, referral for comprehensive evaluation is warranted. If the M-CHAT-R Total Score is in the Low-Risk for ASD (total score of 0-2 points) AND the provider and parents have no concerns, then continue developmental surveillance at all subsequent health supervision visits.
Follow Up Interview Administer only those items for which the parent indicated behavior that demonstrates risk for autism spectrum disorder (ASD), meaning the item was failed, and/or those which the health care provider has concerns may not have been answered accurately.
MCHAT Follow Up Interview 6. Does your child point with one finger to ask for something or to get help?
9. Does show you things by bringing them to you or holding them up for you to see? Not just to get help, but to share?
FAILED M-CHAT-R/F 3 7 Fails on Screen 2 or more Fails on Interview HIGH RISK 8 or more Fails on Screen
What would contribute to a false negative or false positive screen? A parent or caregiver who does not fully comprehend the items Completing the M-CHAT-R at an early age (younger than the recommended age) -Approximately 30% of children with ASD show a period of typical development followed by plateau or regression, and screening too early might miss some of these later-onset children. A child with other forms of developmental delay -toddlers with severe developmental delays or impairments in vision and/or hearing mild symptoms and even an absence of symptoms at 18 months does not rule out a later diagnosis of ASD Clinical judgment should be considered. Even if a screen is negative, if there are professional or parental concerns, the child should be referred for a comprehensive evaluation and to early intervention.
What is Autism? Autism Spectrum Disorder (ASD) : Neuro-developmental disorder with core deficits: soautism Spectrum Disorder (ASD) : Neuro-developmental disorder with core deficits: social interaction and social communication repetitive/ stereotyped behaviors Differences in brain growth and organization A spectrum DSM-5 combined former diagnoses: Autistic Disorder, Asperger s, PDD-NOS Can see both developmental delay and deviancete
Symptoms of ASD DSM-IV : 1. Social 2. Communication 3. Repetitive/ stereotyped behaviors DSM-5 : 1. Social 2. Repetitive/ stereotyped behaviors
Deficits in Social Emotional Reciprocity Poor response to name Reduced showing objects of interest Difficulty initiating & responding to joint attention Lack of initiation of social interaction Doesn t engage in simple social games Use of others as tool Does not offer comfort/ notice others distress
Deficits in Non-Verbal Communication Decreased and/or poorly coordinated eye contact Impaired use and understanding of: Gestures (pointing, waving, nodding/shaking head) Prosody (volume/ pitch/ intonation of speech) Facial expressions Body language
Deficits in Relationships/Play In own world, limited interest in others Doesn t try to attract attention of others Lack of interest in peers Lack of cooperative play (>24 months) Doesn t notice another s distress/ disinterest Delayed imaginative play Older ages: Lack of theory of mind Difficulty understanding social cues/ conventions Lack of imaginative play with peers Difficulty making friends
Stereotyped Repetitive Behaviors/Interests Speech: Echolalia Pronoun reversal Idiosyncratic language Repetitive vocalizations Motor mannerisms: Hand (clapping, flapping) Body (rocking, spinning) Toe-walking Repetitive use of objects: Non-functional play (dropping) Lining up toys/ objects Repetitive actions (open/ close doors, turning lights on/off)
Routines/Rituals Rigid or unusual routines Ritualized behavior Repetitive questioning about a topic Verbal rituals Excessive resistance to change Difficulty with transitions Over-reaction to trivial changes
Preoccupations Abnormal interests Abnormally intense interests Pre-occupations (e.g. letters/ numbers) Focus on non-relevant parts of objects Unusual attachments to objects Having to carry around/ hold specific or unusual objects
Sensory High pain tolerance Unusual visual exploration: Visual inspection Peering Hyper-sensitive to sensory input Certain sounds, bright lights Tactile defensiveness Hypo-sensitive/ sensory- seeking Licking/ sniffing objects
DSM 5 A. Persistent deficits in social communication and social interactions (all 3): (1)social-emotional reciprocity Does not show, share, initiate social interactions Not able to have a back and forth conversation Uses parent hand as a tool (2)Deficits in nonverbal communicative behaviors Decreased eye contact Limited facial expressions Does not point/limited use of gestures (3)Deficits in developing and maintaining relationships Not interested in play with peers Limited pretend and imaginative play Hard time making and keeping friends
B. Restricted, repetitive patterns of behavior, interests, or activities (at least 2) (1) (2) (3) (4) motor stereotypies, echolalia, repetitive use of objects Excessive adherence to routines Highly restricted, fixated interests Hyper-or hypo-reactivity to sensory input
Present in early childhood Limit and impair everyday functioning Not due to ADHD, LD, adjustment disorder Take into account: educational and environmental factors Language differences Co-existing mental illness Physical (sensory, motor, illness, pain)
Resources M-CHAT-R/F http://mchatscreen.com/mchat-rf/ CDC Learn the Signs. Act Early. https://www.cdc.gov/ncbddd/actearly/index.html American Academy of Pediatrics Developmental Screening Recommendations https://www.aap.org/en-us/about-the-aap/committees-councils- Sections/Council-on-Children-with-Disabilities/Pages/Description-and- Policy.aspx http://www.autismnavigator.com/ (Watch unique side-by-side videos that show the early signs of autism in toddlers, and other resources)