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 • It’s 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 one’s 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 Small Posters (3) Set of 15 Fact Sheets Learn the Signs. Act Early. www.cdc.gov/ncbddd/actearly/ 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 M-CHAT: Does your child... http://www2.gsu.edu/~psydlr/Diana_L._Robins,_Ph.D._files/M- • Like to be swung? • Smile in response to you? • Take interest in other • Imitate you? children? • Respond to name? • Like climbing? • If you point, does he look? • Enjoy peek-a-boo? • Walk? • Ever pretend to talk on the • Look at things you are? phone? • Make unusual finger • Ever use index finger to movements near face? point to ask? To indicate • Act as if deaf? interest? • Understand what people • Play properly with small say? toys? • Stare at nothing? CHATInterview.pdf • Bring objects to show? • Look at your face to check • Look you in the eye? reaction? • Seem oversensitive to noise? 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 Karyotype- 5% yield $400 Genetic Testing Microarray- 6-27% $600-3500 Fragile X-1-2% $500 MeCP2 $1400 FISH Chr 15 -1% $680 Amino Acids-<1% $299 Metabolic Organic Acids<1% $280 Testing MRI, any lesion-up to $400-$3500 Neuroimaging 48% Any abnormality-16-68% $650 EEG Seizures- 25% lifetime Lead- no data, low $11 Other 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 • Effective programs management – Use assessment based • Curricula should curricula to address these goals include – Include combinations of – Academic learning strategies and treatment – Socialization modalities – Adaptive skills – Incorporate strong – Communication components of family – Ameliorization of training and support interfering behaviors • Programs differ in – Generalization of philosophy & emphasis abilities across environments 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, C’s – 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 PT • Fine motor • Coordination coordination difficulties • Adaptive skills • Natural • Sensory Integration environment – Addresses sensory – Adaptive physical abnormalities education or in the – “Systematic community desensitization” – Hippotherapy – No evidence of corresponding neurological changes 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/ Asperger’s • 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 – self-injurious behavior – Aggression • Toolkit – handouts for MD – sleep & families Psychopharmacology Symptoms/ Disorders Freq Treatments Attentional, impulsivity, 59% Behavioral intervention hyperactivity 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 37% Behavioral treatment, supportive counseling; symptoms Medication – SSRI, others Disruptive, irritable or 8-32% Behavioral intervention aggressive behavior 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 Most commonly used – Massage/Therapeutic ~ 50% - biologically based Touch 30% - mind body – Auditory Integration 25% - manipulation/ body • Energy Medicine based – Transcranial & magnetic stimulation ** Most use > 1 modality • Biologically Based Biologically Based CAM • Supplements • Immune – B6/Magnesium, B12 – Antifungal therapy – DMG/ TMG – Immunotherapy, steroids – Vitamin A, Vitamin C – Antibiotics/Antivirals – Folate – Stem cell transplantation – • Immunization- Omega 3 Fatty Acids • Elimination Diets related – Casein/ gluten free – With-hold immunization – Chelation • Off-label medications • Hyperbaric oxygen – Secretin therapy (HBOT) 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 ASD-specific information and practice tools: • Screening and surveillance algorithms • Record-keeping tools • Examples of screening tools • Emergency information forms • Guideline summary charts • ASD coding tools • Management checklists • Reimbursement tips • Developmental checklists • Sample letters to insurance companies • Developmental growth charts • ASD management fact sheets • Web links • Family education handouts • Early intervention referral forms and tools Toolkit Content Fact sheets for primary care professionals (PDF files) Topics • Asperger syndrome • Treatment decision • Behavioral principles • Psychopharmacology • CAM Treatments • Seizures & Epilepsy • Dietary tx • Sleep disorders • Eating & nutrition • Toilet training • GI problems Toolkit Content Fact sheets for primary care professionals to give families (PDF files) Topics • Behavioral challenges • Seizures & epilepsy • Diet • Sibling issues • Early intervention • Sleep problems • GI problems • Support programs for • Childhood to adolescence families • Guardianship • Toilet training • Lab tests • Transition to adulthood • Medication • Vaccines • Nutrition & eating problems • Visiting the doctor • School based services Questions?
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