Autism Spectrum Disorders: Identification & Management. Georgina Peacock, MD, MPH, FAAP Susan L. Hyman, MD, FAAP Susan E.

Transcription

1 Autism Spectrum Disorders: Identification & Management Georgina Peacock, MD, MPH, FAAP Susan L. Hyman, MD, FAAP Susan E. Levy, MD, FAAP

2 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

3 Pediatrics 2006; 118:

4 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

5 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

6 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

7 Autism Spectrum Disorders Problems with socialization Problems with communication Unusual behaviors

8 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.

9 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

10 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

11 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

12 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

13 Joint Attention and Social Engagement

14 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

15 By the end of 2 years Use 2- to 4-word phrases Follow simple instructions (24 months) 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

16 Red Flag: Any loss of speech or babbling or social skills Regression at any age is cause for immediate referral

17 Health Care Professional Resource Kit Stand with 200 Informational Cards Set of 15 Fact Sheets Small Posters (3)

18 Learn the Signs. Act Early. 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.

19 AAP Reports Related to Autism 2001: Complementary and Alternative Medicine in Children with Chronic Illness Pediatrics Mar;107(3): : Developmental Screening Pediatrics Jul;118(1): : Evaluation of Autism Pediatrics Nov;120(5): : Management of Autism Pediatrics Nov;120(5): : The Young Child with Autism Pediatrics May;123(5):

20 Identification and Management of Children with Autism

21 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

22 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

23 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

24 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% months of age Change in language, social awareness or behavior

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26 CHATInterview.pdf M-CHAT: Does your child... 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? Robins et al, 1999

27 Modified Checklist for Autism in Toddlers (MCHAT) Positive Predictive Value (.57) Robins, Autism Sep;12(5): 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: months 23 Questions: -2 of critical items or any 3 items

28 Barriers to Screening in Office Practice Screening tests too long and difficult Children uncooperative Reimbursement limited 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

29 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

30 EI Referral Form

31 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

32 Community Resources

33 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

34 Medical Work Up Genetic Testing Metabolic Testing Neuroimaging EEG Karyotype- 5% yield Microarray- 6-27% Fragile X-1-2% MeCP2 FISH Chr 15-1% Amino Acids-<1% Organic Acids<1% MRI, any lesion-up to 48% Any abnormality-16-68% Seizures- 25% lifetime $400 $ $500 $1400 $680 $299 $280 $400-$3500 $650 Other Lead- no data, low $11

35 A Good History and Physical is the basic medical work up for ASD.

36 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:

37 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

38 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

39 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

40 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

41 Education Cornerstone of management Curricula should include Academic learning Socialization Adaptive skills Communication Ameliorization of interfering behaviors Generalization of abilities across environments Effective programs Use assessment based curricula to address these goals Include combinations of strategies and treatment modalities Incorporate strong components of family training and support Programs differ in philosophy & emphasis Myers & Johnson, PED 2007

42 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.

43 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

44 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

45 Developmental: Motor OT Fine motor coordination Adaptive skills Sensory Integration Addresses sensory abnormalities Systematic desensitization No evidence of corresponding neurological changes PT Coordination difficulties Natural environment Adaptive physical education or in the community Hippotherapy

46 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%)

47 Psychopharmacology Adjunct to educational, developmental & behavioral treatments So far no evidence of impact on core symptoms Evidence supporting is variable Toolkit handouts for MD & families Treat target symptoms Stereotypies Withdrawal Obsessions Irritability Hyperactivity attention span self-injurious behavior Aggression sleep

48 Psychopharmacology Symptoms/ Disorders Freq Treatments Attentional, impulsivity, hyperactivity 59% Behavioral intervention 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 symptoms Disruptive, irritable or aggressive behavior 37% Behavioral treatment, supportive counseling; Medication SSRI, others 8-32% Behavioral intervention 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)

49 CAM Treatments Used in Children with ASD Mind-body Medicine Yoga Music Therapy Manipulative and Body-based Chiropractic Massage/Therapeutic Touch Auditory Integration Energy Medicine Transcranial & magnetic stimulation Biologically Based Most commonly used ~ 50% - biologically based 30% - mind body 25% - manipulation/ body based ** Most use > 1 modality

50 Biologically Based CAM Supplements B6/Magnesium, B12 DMG/ TMG Vitamin A, Vitamin C Folate Omega 3 Fatty Acids Elimination Diets Casein/ gluten free Off-label medications Immune Antifungal therapy Immunotherapy, steroids Antibiotics/Antivirals Stem cell transplantation Immunizationrelated With-hold immunization Chelation Hyperbaric oxygen therapy (HBOT) Secretin Always others coming along

51 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)

52 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

53 Toolkit Content The fully searchable CD-ROM has an extensive library of ASD-specific information and practice tools: Screening and surveillance algorithms Examples of screening tools Guideline summary charts Management checklists Developmental checklists Developmental growth charts Web links Early intervention referral forms and tools Record-keeping tools Emergency information forms ASD coding tools Reimbursement tips Sample letters to insurance companies ASD management fact sheets Family education handouts

54 Toolkit Content Fact sheets for primary care professionals (PDF files) Topics Asperger syndrome Behavioral principles CAM Treatments Dietary tx Eating & nutrition GI problems Treatment decision Psychopharmacology Seizures & Epilepsy Sleep disorders Toilet training

55 Toolkit Content Fact sheets for primary care professionals to give families (PDF files) Topics Behavioral challenges Diet Early intervention GI problems Childhood to adolescence Guardianship Lab tests Medication Nutrition & eating problems School based services Seizures & epilepsy Sibling issues Sleep problems Support programs for families Toilet training Transition to adulthood Vaccines Visiting the doctor

56 Questions?