The State of Autism in Agenda. What is new in epidemiology? What is new in science? What is the state of services in our state?
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1 The State of Autism in 2012 Infant and Early Childhood Conference Friday, May 4, 2012 Chuck Cowan, MD Medical Director Seattle Children s Autism Center Agenda What is new in epidemiology? What is new in science? What is the state of services in our state? What is new in treatment? DSM-V Preview Problems with the DSM-IV Cannot clearly separate Social and Communication Domains No severity measures for any of the domains in the triad Inconsistent definitions for ASD subtypes Autism Disorder, PDD-NOS and Asperger Syndrome Subtype categories often change as child ages DSM-V will do away with subtypes and attempt to add severity measures to the remaining domains
2 Prevalence Studies Prevalence = the total number of cases in a population at a specific time Prevalence can be expressed as a rate such as a percentage or as a ratio For example the ratio of 1:110 is the same as 0.9 % Using the latest CDC numbers 1:88 is the same as 1.13% (11.3/1,000 or 113/10,000) Autism Prevalence Prevalence /10, Au.sm Rate Other PDD Total ASD Fombonne E, 2003 J Autism and Dev Disabilities 37(4): Autism Prevalence 300" 250" 200" Prevalence /10, " Au-sm"Rate" Other"PDD" Total"ASD" 100" 50" 0" 1966" 1970" 1976" 1982" 1987" 1989" 1992" 2000" 2000" 2001" 2001" 2007" 2009" 2011" Fombonne E, 2003 J Autism and Dev Disabilities 37(4): and others
3 Autism Prevalence 300" 250" 200" Prevalence /10, " Au-sm"Rate" Other"PDD" Total"ASD" 100" 50" 0" 1966" 1970" 1976" 1982" 1987" 1989" 1992" 2000" 2000" 2001" 2001" 2007" 2009" 2011" 2012" Fombonne E, 2003 J Autism and Dev Disabilities 37(4): MMWR 3/30/2012 MMWR 3/30/2012
4 Prevalence - Korea Study Study conducted in Goyang City, South Korea between Population born between (7-12 years old) Two populations studied - special education and general population students More students in general education category had milder forms of ASDs Diagnosis used current standard diagnostic tools such as ADOS, but Boys had higher prevalence (3.74%) vs. girls (1.47%) Kim YS, et.al. Prevalence of autism spectrum disorders in a total population sample Am J Psychiatry 2011 Sep 168(9) Prevalence - Korea Study Kim YS, et.al. Prevalence of autism spectrum disorders in a total population sample Am J Psychiatry 2011 Sep 168(9) Brugha et. al. Autism Spectrum Disorders in adults living in households throughout England: Report from the adult psychiatric morbidity survey 2007 Phone interview with 13,171 households 7,461 cooperating adults Screening questionnaire to identify possible ASD -----> Phase 2 Eligible Phase 2 adults identified = 5,329 Agreed to clinical interview = 4,050 Phase 2 sample completed on 630 adults including ADOS evaluations
5 Brugha et. al. Autism Spectrum Disorders in adults living in households throughout England: Report from the adult psychiatric morbidity survey 2007 Adult Prevalence The rate of ASDs in adults has never been looked at beforehand in a large population study. If this study is correct then the rate of ASDs in adults is the same as the rate in children at least as measured by the Center for Disease Control It has been felt that the rising rate of autism is a new phenomenon affecting children more than adults. This study questions that assumption. If this study is correct, then ASDs have been with us humans for a long time and is not increasing, and we haven t recognized it, or called it by the right name. Twin Studies Earlier twin studies suggested that genetic influences strongly are causative of ASDs Monozygotic twins (identical) were felt to have as much as 90% likelihood of having ASDs compared to dizygotic twins (fraternal) 3-17% These studies were baed on relatively few twin pairs This study, the largest to date used 172 twin pairs both mono and dizygotic. 77% of monozygotic twins shared autism and 31% dizygotic twins The higher rate of dizygotic concordance suggests that the environment, that is what has happened in the womb may have a higher effect on the development of autism than has previously estimated
6 Sibling Risk Prior studies suggest the risk of recurrence in a second child of about 3-10% Those studies also suggest that if the first child in a family is a girl the risk is higher that second children of either gender will be on the spectrum and that if there are already 2 children with ASD the risk is higher for the next child born. This study is the largest prospective study of sibling risk involving 664 siblings of children with ASDs. They were followed from birth to 36 months and assessment occurred at 36 months old The recurrence risk in this study was higher with 18.7% diagnosed with ASDs There was not increased risk if the first born was a girl but as in other studies the risk was higher if there were more than one prior sibs with ASDs. Ozanoff S et.al. Recurrence risk for Autism Spectrum Disorders: A baby sibs research consortium study Pediatrics 2011; 128 Environmental Working Group. Overloaded? New science, new insights about mercury and autism in susceptible children. Washington, DC: EWG Action Fund, Association Studies Numerous association studies continue to be published describing the apparent association of autism with a number of conditions These studies are often misleading as they don t have adequate controls The following associations have been described. One should be very cautious about interpreting the validity of these studies Pregnancy order Maternal diabetes/obesity Pregnancy exposure to SSRI antidepressants Prematurity Cerebral palsy Age of parents Rainfall Use of Cell Phones Living near Freeways
7 What to make of current epi studies? Autism exists in Adults - how often is not clear but this condition is not as new as some would suggest Genetic factors continue to be important determinants of autism. There are higher risks for twins both having autism as well as sibs Genetic factors being strong determinants may allow understanding that will help treat and prevent autism Nevertheless genetic factors are not the only cause of ASDs. Environment may also play an important role though how much and what remains very unclear Depending on how broad the autism definition is the more one finds Don t forget, as Mark Twain said There are Lies, Damn Lies and Statistics Screening for ASDs M-CHAT is the standard screening instrument for children 30 months or less 23 item questionnaire to be asked a parent - not an observation of the child Should be administered by primary care providers at 18, 24 and 30 months Sensitivity 70-85%, specificity 38% STAT - Screening Tool for Autism in Toddlers Designed to be administered between months A level 2 screener, a short 20 minute observation of a child administered by a trained screener STAT Turn Taking - Play Rolls car back and forth Doll Play - Play Simple functional play with doll or animal Bubbles - Requesting Requests help opening bubbles or more bubbles Food - Requesting Requests help opening food with eye contact and vocalization Balloon - Directing Directs your attention to deflating balloon Puppet -Directing Directs your attention to puppet Bag of Toys - Directing Directs your attention to a toy in the bag Noisemaker -Directing Directs your attention to noisemaker Shake Rattle - Imitation Imitates your shake of rattle Roll Car - Imitation Imitates your roll of car Drum Hands - Imitation Imitates your drumming of hands Hop Dog - Imitation Imitates your hopping of toy dog
8 Other level 2 screeners Social Communication Questionnaire - SCQ Gilliam Autism Rating Scale - GARS Social Responsiveness Scale - SRS Autism Spectrum Screening Questionnaire - ASSQ Asperger Syndrome Diagnostic Scale Diagnosis Diagnosis remains a clinical decision DSM constitutes the guidelines on which diagnosis is made Consideration of developmental, medical and psychosocial history are considered Support for diagnosis using standard instruments mostly Autism Diagnostic Observation Schedule (ADOS), cognitive testing, speech language testing, formal motor testing There is no perfect method to diagnose ASDs and accuracy is subject to a lot of debate
9 120" 100" Percentage 80" 60" 40" Asperger's" PDD5NOS" Autism" 20" 0" 1" 2" 3" 4" 5" 6" 7" 8" 9" 10" 11" Site Science - Ricardo Dolmetsch Studies Ricardo Dolmetsch is a neuroscientist at Stanford. He has an autistic son. Dr. Dolmetsch studies calcium channels, the tiny holes in the membranes of all cells that regulate the internal chemistry of the cell. Timothy Syndrome is a rare genetic condition in which calcium channels do not work appropriately. Timothy syndrome children are subject to life threatening cardiac arrythmias as well as an autism-like picture. It is possible to take a cell from the skin and turn it into a stem cell in the laboratory It is possible to take a stem cell and change it into another tissue type for instance a neuron or a heart muscle cell
10 Imagine the power of such technology in the next 25 years Science - Klin Studies Ami Klin a psychologist now at Emory and previously at Yale has been working for years to understand how one s eyes understand the world and how especially one s eyes understand the meaning of social behavior Eye contact is the way humans understand other people s emotions, intentions, action We are built at a very early age to understand motion, in fact there are whole neural circuits that alert us to the motion of others. Motion then has to be interpreted by the brain as to its meaning, whether a threat, help or many othe meanings The following experiment is an example of how neuro-scientists are trying to figure out how the human brain works Science - Geschwind Daniel Geschwind and colleagues are some of the premier neurogeneticists. A recent paper in Nature demonstrated that when you look at what genes are active in brain tissue in people with ASDs (note these are postmortem specimens) they have remarkably similar networks of active genes. And this appears true both for people with ASDs who are mild and severe. This is indirect evidence for the validity of the autism spectrum Nevertheless the research is still new and on very limited number of samples
11 Voineagu I, et.al. Transcriptomic analysis of autistic brains reveals convergent molecular pathology Nature 201: Local Issues - Insurance battles Services particularly mental health services are not provided equitably to all citizens Insurance companies have typically provided mental health services at a lower level of reimbursement than medical services both for public programs such as Medicaid as well as private insurance plans Recent Washington State Law insists that Mental Health Services be at parity with Medical Services Medicaid EPSDT regulations require that children covered by Medicaid be provided with ALL medically necessary services ABA is a mental health treatment that has proven to be one of the most effective treatments for children with ASDs ABA has not generally been paid for in our state either by public or private insurances Local Issue - Insurance Battles Efforts to address these inequities have taken two forms - class action suits and legislative reforms One suit was won based on the Mental Health Parity Law against Uniform Medical Plan (state employees administered by Regence) stipulating that excluding ABA services violates the law Based on other suits, DSHS has agreed that in theory Medicaid enrollees should be eligible for ABA based on the Medical Necessity principle but have agreed to provide such services only via a complex research protocol. The issue remains very undecided. Efforts continue to have Washington State legislature enact an Autism Insurance law similar to that enacted by now 28 states
12 Autism Insurance in the US Local Issues - Seattle Children s Autism Center Seattle Children s Autism Center was first opened in August, 2009 Services include diagnostic assessment, short term treatment, family support services, medical evaluations and treatment, adult transition program, advocacy, training of medical and psychological personnel, support to communities distant from SC In March SCAC saw 1,710 patient visits Wait lists are typically 1,500 patients long with some services having 6 mont wait lists SCAC is now one of the biggest Autism Centers in the US Seattle Children s Autism Center Developmental Pediatrics Charles Cowan Annie Leavitt Gwen Glew Neurology Gary Stobbe Peter Kollros Kyle Steinman Psychiatry Bryan King Hower Kwon David Camenisch Soo Kim Psychology Felice Orlich Karen Toth Mendy Minjarez Mariam Araujo Stephanie Pickering Eric Boelter Danielle Dolezal Ron Thompson Emily Rastall Amy Bohlander Nursing Jan Bersin Jason Russo Andrea Valdez Speech Therapy Anita Wright Jim Mancini Noa Hannah Nurse Practitioners Dora Hall Jennifer Mannheim Linsey Miller David Eaton Karen Spoor Therese Vafaeezadeh Family Support Lynn Vigo Amber Persons Amber Sands Katrina Davis Kelly Hertzberg Steph Thoms-Meyer
13 Combating Autism Act Council Combating Autism Act funded 3 year grants that just ended Two cooperative grants obtained by UW LEND program and Washington State Department of Health Grants have funded quarterly meetings of Autism stakeholders and 3 annual Autism Summits held in Yakima The work of the council and summits created a framework for expanding autism services throughout the state. Autism Prevalence per 10,000 Age 3-5 by County From School District Data Ada ms Aso tin Ben ton Che lan Cla llam Cla rk Colu mb ia Cow litz Dou glas Ferr y Fra nkli n Garf ield Gra nt Gra ys H arb o Isla r nd Jeff ers on Kin g Kits ap Kitti tas Klic kita t Lew is Lin coln Mas on Oka nog an Pac ific Pen do reil le Pie rce San Jua n Ska git Ska man ia Sno hom ish Spo kan e Ste ven s Thu rsto n Wa hkia kum Wa lla W alla Wh atco m Wh itm an Yak ima 0
14 0 Autism Prevalence per 10,000 Age 6-21 by County From School District Data Adams Asotin Benton Chelan Clallam Clark Columbia Cowlitz Douglas Ferry Franklin Garfield Grant Grays Harbor Island Jefferson King Kitsap Kittitas Klickitat Lewis Lincoln Mason Okanogan Pacific Pend Oreille Pierce San Juan Skagit Skamania Snohomish Spokane Stevens Thurston Wahkiakum Walla Walla Whatcom Whitman Yakima Local Issues - ESIT Guidelines Early intervention program also known as Birth to 3 should be the source for the earliest identification and treatment of children with ASDs B-3 programs are constrained by federal regulations that among other issues stipulate that most services need to be provided in Natural Environments Natural Environments do not include B-3 center classrooms Classrooms allow peer interaction and are key venues for learning social skills Recently new guidelines are being released which encourage classroom based services for ASD children in B-3 programs Washington State ESIT Autism Guidelines Essential Components of Key Practices Integrated Toddler Group Experiences Meet at least twice per week and have activities designed for typically developing children Extended, Intensive Intervention Specialized Support for Families Parents of ASD children report higher levels of stress than those of other disabilities Coordination and Collaboration Across Services Quality of Life Inspired Outcomes minutes/session 2-3 sessions per week
15 Dawson G, Rogers S et. al. Randomized Controlled Trial of an Intervention for Toddlers with Autism: The Early Start Denver Model Pediatrics 2010:125, e17-23 Denver Early Start Results Does Treatment Work? Turner, L. Stone W. Variability of outcome for children with an ASD diagnosis at age 2 J Child Psych :
16 Prevalence of Parent-Reported Diagnosis of Autism Spectrum Disorder Among Children in the US, 2007 Kogan, M et. al. Pediatrics 2009; 124: Prevalence of Parent-Reported Diagnosis of Autism Spectrum Disorder Among Children in the US, 2007 Current point prevalence 110:10,000 Boy:Girl Ratio 4:1 ~ 35 % lost the ASD diagnosis Non-hispanic black and multiracial children had lower odds of having the diagnosis and lost the diagnosis to a higher extent Children with ASD were more likely to have their care outside of a medical home than children without an ASD diagnosis Kogan, M et. al. Pediatrics 2009; 124:
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