AUCD Research Topics of AUCD Research Topics of Interest (RTOI) Webinar Interest (RTOI) Webinar September 26, 2007 September 26, 2007 Presented by AUCD and supported by Cooperative Presented by AUCD and supported by Cooperative Agreement U59/CCU321285- -01 from the National Center on 01 from the National Center on Agreement U59/CCU321285 Birth Defects and Developmental Disabilities (NCBDDD) at Birth Defects and Developmental Disabilities (NCBDDD) at Center for Disease Control and Prevention (CDC) Center for Disease Control and Prevention (CDC) 1 1
Webinar Agenda Webinar Agenda I. Welcome & Introduction – – Sue Lin, MS Project Sue Lin, MS Project I. Welcome & Introduction Director, AUCD- -NCBDDD Cooperative Agreement NCBDDD Cooperative Agreement Director, AUCD II. Presentation II. Presentation Prevalence of Autism Spectrum Disorder in Children with Down Syndrome- Is There an Association? – Susan Hyman, MD & Steve Sulkes, MD (Strong Center for Developmental Disabilities, NY UCEDD); Cordelia Robinson, PhD, Susan Hepburn, PhD, & Deborah Fidler, PhD (JFK Partners, CO UCEDD) III. Discussant III. Discussant Diana Schendel, PhD, NCBDDD, CDC Diana Schendel, PhD, NCBDDD, CDC IV. Question and Answer IV. Question and Answer 2 2
NCBDDD- -AUCD Cooperative Agreement AUCD Cooperative Agreement NCBDDD Strengthen the nation's capacity Strengthen the nation's capacity to carry out public health and to carry out public health and disability activities disability activities Foster collaborations among Foster collaborations among AUCD, its members, and AUCD, its members, and NCBDDD NCBDDD Facilitate a wide range of Facilitate a wide range of research, education, and research, education, and dissemination activities. dissemination activities. 3 3
Research Topics of Interests (RTOI) Research Topics of Interests (RTOI) RTOI are specific research area of significance identified by scientists ientists RTOI are specific research area of significance identified by sc at NCBDDD, CDC. Past RTOI projects have focused on the at NCBDDD, CDC. Past RTOI projects have focused on the following areas: following areas: Health Communication and Education Health Communication and Education Prevention of Secondary Conditions Prevention of Secondary Conditions Healthcare Cost Analysis Healthcare Cost Analysis Quality of Life Studies Quality of Life Studies Developmental Factors and Outcomes Developmental Factors and Outcomes Health Promotion Interventions Health Promotion Interventions Co- -Morbidity Prevalence Studies Morbidity Prevalence Studies Co Specific disabilities areas include: autism, Down syndrome, Duchenne enne Specific disabilities areas include: autism, Down syndrome, Duch muscular dystrophy, hearing loss, fetal alcohol syndrome, spina muscular dystrophy, hearing loss, fetal alcohol syndrome, spina bifida, and Tourette syndrome. bifida, and Tourette syndrome. 4 4
Presenters and Discussant Presenters and Discussant Susan Hyman, MD Cordelia Robinson, PhD Diana Schendel, PhD Steve Sulkes, MD NCBDDD, CDC Susan Hepburn, PhD Strong Center for JFK Partners University Developmental of Colorado at Denver Disabilities Health Sciences Center University of Rochester Medical Center 5 5
Webinar Guidelines Webinar Guidelines All participants lines will All participants lines will be MUTED during the be MUTED during the presentation presentation Operator will facilitate Operator will facilitate the Q&A session the Q&A session Participants may submit Participants may submit questions online during questions online during presentation through presentation through Go To Webinar text box Go To Webinar text box at any time at any time Sample webinar screen 6 6
Down syndrome and Autism: Down syndrome and Autism: Is there an association? Is there an association? AUCD/CDC AUCD/CDC RTOI Projects RTOI Projects University of Colorado University of Colorado and and University of Rochester University of Rochester 7 7
Medical and Behavioral Characteristics of Medical and Behavioral Characteristics of Children with Down Syndrome in New York State Children with Down Syndrome in New York State Susan L. Hyman Susan L. Hyman Stephen B. Sulkes Stephen B. Sulkes Strong Center for Developmental Disabilities Strong Center for Developmental Disabilities University of Rochester Medical Center University of Rochester Medical Center Prevalence of Autism Spectrum Disorders Prevalence of Autism Spectrum Disorders in Down Syndrome in Down Syndrome Cordelia Robinson Susan Hepburn JFK Partners University of Colorado at Denver and Health Sciences Center University of Colorado at Denver and Health Sciences Center 8 8
9 9 Down syndrome (DS)
Epidemiology of Down syndrome Epidemiology of Down syndrome 1- -3/1,000 (10 3/1,000 (10- -30/10,000) births in 30/10,000) births in 1 European countries 1995- -9 ( 9 (Dolk Dolk et al, et al, European countries 1995 2005) 2005) 1/800 (12.5/10,000) live births in US 1996- - 1/800 (12.5/10,000) live births in US 1996 2000 National Birth Defects Prevention 2000 National Birth Defects Prevention Network Network Survival rate to 1 year is 93% and to 10 Survival rate to 1 year is 93% and to 10 years is 88.6% (Rasmussen et al, 2006) years is 88.6% (Rasmussen et al, 2006) 10 10
11 11 Autism Spectrum Disorders (ASD)
Modern Epidemiologic Studies of Modern Epidemiologic Studies of ASD ASD Author Author Location Prevalence Comment Location Prevalence Comment Ca Dept Dev California, 300 x increase Not an epi epi study study Ca Dept Dev California, 300 x increase Not an Svc, 1999 1987- -97 97 Svc, 1999 1987 Bertrand, 2001 Brick Twp, AD 40/10,000 No different Bertrand, 2001 Brick Twp, AD 40/10,000 No different New Jersey from rest of NJ New Jersey from rest of NJ PDD 60 PDD 60 Chakrabarti & Staffordshire AD 17/10,000 26% MR, Chakrabarti & Staffordshire AD 17/10,000 26% MR, Fombonne, Fombonne, PDD 45.8 <6 yrs. PDD 45.8 <6 yrs. 2001 2001 Yeargin- - Metro Atlanta 34/10,000 3- -10 yrs. 10 yrs. Yeargin Metro Atlanta 34/10,000 3 Allsopp, 2003 Allsopp, 2003 68% MR 68% MR Barbaresi Barbaresi, , Olmstead Olmstead Cty Cty 4.5/10,000 4.5/10,000 Increase Increase definitional definitional 2005 2005 MMWR, 2006 US - - survey survey 55- -57/10,000 57/10,000 No difference MMWR, 2006 US 55 No difference with age with age MMWR, 2007 US- -multiple multiple 66/10,000 ave ave AL 3.3/1000 MMWR, 2007 US 66/10,000 AL 3.3/1000 source, ADDM source, ADDM NJ10.6/1000 NJ10.6/1000 12 12
Genetic Disorders at Increased Risk Genetic Disorders at Increased Risk for Autism for Autism Fragile X Syndrome Down syndrome? Fragile X Syndrome Down syndrome? Smith Lemli Lemli Opitz Opitz Smith Tuberous Sclerosis Tuberous Sclerosis 15 q 11 duplication 15 q 11 duplication MECP2 related MECP2 related disorders disorders PKU PKU Smith- -Magenis Magenis Smith Angelman Syndrome Syndrome Angelman 13 13
Why is it important to determine risk Why is it important to determine risk for comorbidity comorbidity? ? for Potential for understanding the neurobiology of Potential for understanding the neurobiology of autism, phenotypic symptoms of autism, autism, phenotypic symptoms of autism, phenotypic symptoms of the comorbid comorbid disorder disorder phenotypic symptoms of the Provision of appropriate services to children with Provision of appropriate services to children with both diagnoses both diagnoses Determine need for screening Determine need for screening Better understanding of child and access to Better understanding of child and access to appropriate support mechanisms for families appropriate support mechanisms for families 14 14
66/10,000 12.5/10,000 Down syndrome + Autism Spectrum Disorder ???/10,000 15 15
Comorbid Down syndrome and ASD Comorbid Down syndrome and ASD Author Location Prevalence Comment Author Location Prevalence Comment Kent et al, UK, 2- -16 yrs 16 yrs 33/58 screened 11/29 rituals, Kent et al, UK, 2 33/58 screened 11/29 rituals, 1999 multiple source obsessions 1999 multiple source obsessions 4 ASD, 7% 4 ASD, 7% ASSQ, CARS ASSQ, CARS Rasmussen et Rasmussen et Sweden Sweden 25 cases over 15 25 cases over 15 5 had + FHx 5 had + FHx al, 2001 al, 2001 years years Clinic sample 5 IS Clinic sample 5 IS Starr et al Starr et al UK,test UK,test 3/13 ADI- 3/13 ADI -R+ R+ Not the same Not the same 2005 2005 validation validation subjects! subjects! 2 ADOS+ 2 ADOS+ Capone et al US, clinic sample 64 ASD, 19 + ABC + Aut Aut Capone et al US, clinic sample 64 ASD, 19 + ABC + 2006 n=127 SMD, 18+DB, 26 Behav C, 13.6% C, 13.6% 2006 n=127 SMD, 18+DB, 26 Behav DS alone min., type of DS alone min., type of stereotypy stereotypy Kraijer Kraijer Holland, multiple Holland, multiple Different pattern Different pattern source n=254 source n=254 of scores, high of scores, high stereotypy stereotypy 16 16
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