{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T20:48:30Z","timestamp":1784753310897,"version":"3.55.0"},"reference-count":18,"publisher":"Informa UK Limited","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,3,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Autism is heterogeneous at many levels, including clinical symptoms and etiology. A key strategy in studying heterogeneous conditions is having large enough sample sizes to stratify into smaller groups that are more homogeneous. SPARK and Simons Searchlight are large and growing research cohorts of individuals with autism in the United States and individuals with genetically defined neurodevelopmental conditions around the world, respectively. They both provide freely available phenotypic and genotypic data with the ability to re-contact participants through the research match program. Deep dives into each gene in Searchlight provide comprehensive natural history data to understand the differing clinical courses to inform proper clinical care, and work toward treatment for each condition. Moreover, pilots of genetically based newborn screening programs for neurogenetic disorders can provide opportunities for equitable and early diagnosis to try to improve outcomes with earlier interventions.<\/jats:p>","DOI":"10.1352\/1944-7558-129.2.91","type":"journal-article","created":{"date-parts":[[2024,2,27]],"date-time":"2024-02-27T07:39:39Z","timestamp":1709019579000},"page":"91-95","source":"Crossref","is-referenced-by-count":6,"title":["SPARKing New Insight Into Autism Across the Lifespan"],"prefix":"10.1080","volume":"129","author":[{"given":"Khemika K.","family":"Sudnawa","sequence":"first","affiliation":[{"name":"Khemika K. Sudnawa, Boston Children\u2019s Hospital, Harvard Medical School and Department of Pediatrics and Pramongkutklao Hospital and Pramongkutklao College of Medicine, Bangkok, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy K.","family":"Chung","sequence":"additional","affiliation":[{"name":"Wendy K. Chung, Department of Pediatrics, Boston Children\u2019s Hospital, Harvard Medical School"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"301","published-online":{"date-parts":[[2024,2,27]]},"reference":[{"key":"2024022712393178500_i1944-7558-129-2-91-b01","doi-asserted-by":"crossref","DOI":"10.1176\/appi.books.9780890425596","volume-title":"Diagnostic and statistical manual of mental disorders","author":"Association, A. P","year":"(2013)"},{"issue":"(10)","key":"2024022712393178500_i1944-7558-129-2-91-b02","doi-asserted-by":"crossref","first-page":"1035","DOI":"10.1001\/jamapsychiatry.2019.1411","article-title":"Association of genetic and environmental factors with autism in a 5-country cohort","volume":"76","author":"Bai,","year":"(2019)","journal-title":"JAMA Psychiatry"},{"issue":"(2)","key":"2024022712393178500_i1944-7558-129-2-91-b03","first-page":"100026","article-title":"Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder","volume":"2","author":"Boyle,","year":"(2021)","journal-title":"HGG Advances"},{"key":"2024022712393178500_i1944-7558-129-2-91-b04","doi-asserted-by":"crossref","first-page":"107698","DOI":"10.1016\/j.nlm.2022.107698","article-title":"The combination of autism and exceptional cognitive ability is associated with suicidal ideation","volume":"197","author":"Casten,","year":"(2023)","journal-title":"Neurobiology of Learning and Memory"},{"key":"2024022712393178500_i1944-7558-129-2-91-b05","doi-asserted-by":"crossref","first-page":"1795","DOI":"10.1007\/s10803-022-05457-7","article-title":"Effect of children\u2019s autism spectrum disorder severity on family strain and sleep quality: A cross-sectional online survey in the U.S","volume":"53","author":"Dur\u00e1n-Pacheco,","year":"(2022)","journal-title":"Journal of Autism and Developmental Disorders"},{"issue":"(10)","key":"2024022712393178500_i1944-7558-129-2-91-b06","doi-asserted-by":"crossref","first-page":"3679","DOI":"10.1007\/s10803-020-04414-6","article-title":"Psychiatric and medical profiles of autistic adults in the SPARK cohort","volume":"50","author":"Fombonne,","year":"(2020)","journal-title":"Journal of Autism and Developmental Disorders"},{"issue":"(2)","key":"2024022712393178500_i1944-7558-129-2-91-b07","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1001\/jama.2022.23661","article-title":"Autism spectrum disorder: A review","volume":"329","author":"Hirota,","year":"(2023)","journal-title":"JAMA"},{"issue":"(11)","key":"2024022712393178500_i1944-7558-129-2-91-b08","doi-asserted-by":"crossref","first-page":"2112","DOI":"10.1002\/aur.2808","article-title":"Associations between co-occurring conditions and age of autism diagnosis: Implications for mental health training and adult autism research","volume":"15","author":"Jadav,","year":"(2022)","journal-title":"Autism Research"},{"issue":"(5)","key":"2024022712393178500_i1944-7558-129-2-91-b09","doi-asserted-by":"crossref","first-page":"1028","DOI":"10.1002\/ana.25863","article-title":"Early-Onset Parkinsonism is a manifestation of the PPP2R5D p.E200K mutation","volume":"88","author":"Kim,","year":"(2020)","journal-title":"Annals of Neurology"},{"issue":"(10)","key":"2024022712393178500_i1944-7558-129-2-91-b10","doi-asserted-by":"crossref","first-page":"1435","DOI":"10.1038\/s41380-018-0321-0","article-title":"Big data approaches to decomposing heterogeneity across the autism spectrum","volume":"24","author":"Lombardo,","year":"(2019)","journal-title":"Molecular Psychiatry"},{"issue":"(1)","key":"2024022712393178500_i1944-7558-129-2-91-b11","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1038\/s41572-019-0138-4","article-title":"Autism spectrum disorder","volume":"6","author":"Lord,","year":"(2020)","journal-title":"Nature Reviews Disease Primers"},{"issue":"(2)","key":"2024022712393178500_i1944-7558-129-2-91-b12","first-page":"1","article-title":"Prevalence and characteristics of autism spectrum disorder among children aged 8 years\u2014Autism and developmental disabilities monitoring network, 11 Sites, United States, 2020","volume":"72","author":"Maenner,","year":"(2023)","journal-title":"Morbidity and Mortality Weekly Report Surveillaince Summaries"},{"issue":"(5)","key":"2024022712393178500_i1944-7558-129-2-91-b13","article-title":"Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: An expanded series with functional characterisation and genotype-phenotype analysis","volume":"60","author":"Oyama,","year":"(2022)","journal-title":"Journal of Medical Genetics"},{"issue":"(1)","key":"2024022712393178500_i1944-7558-129-2-91-b14","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1007\/s10048-015-0466-9","article-title":"De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism","volume":"17","author":"Shang,","year":"(2016)","journal-title":"Neurogenetics"},{"issue":"(12)","key":"2024022712393178500_i1944-7558-129-2-91-b15","doi-asserted-by":"crossref","first-page":"4321","DOI":"10.1007\/s10803-020-04685-z","article-title":"Genetic advances in autism","volume":"51","author":"Thapar,","year":"(2021)","journal-title":"Journal of Autism and Developmental Disorders"},{"issue":"(11)","key":"2024022712393178500_i1944-7558-129-2-91-b16","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1111\/jcpp.13492","article-title":"Patterns of delay in early gross motor and expressive language milestone attainment in probands with genetic conditions versus idiopathic ASD from SFARI registries","volume":"62","author":"Wickstrom,","year":"(2021)","journal-title":"Journal of Child Psychology and Psychiatry"},{"issue":"(4)","key":"2024022712393178500_i1944-7558-129-2-91-b17","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1002\/aur.2671","article-title":"Current and lifetime somatic symptom burden among transition-aged autistic young adults","volume":"15","author":"Williams,","year":"(2022)","journal-title":"Autism Research"},{"issue":"(9)","key":"2024022712393178500_i1944-7558-129-2-91-b18","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1038\/s41588-022-01148-2","article-title":"Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes","volume":"54","author":"Zhou,","year":"(2022)","journal-title":"Nature Genetics"}],"container-title":["American Journal on Intellectual and Developmental Disabilities"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/meridian.allenpress.com\/ajidd\/article-pdf\/129\/2\/91\/3334628\/i1944-7558-129-2-91.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/meridian.allenpress.com\/ajidd\/article-pdf\/129\/2\/91\/3334628\/i1944-7558-129-2-91.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T16:35:10Z","timestamp":1768322110000},"score":1,"resource":{"primary":{"URL":"https:\/\/meridian.allenpress.com\/ajidd\/article\/129\/2\/91\/499209\/SPARKing-New-Insight-Into-Autism-Across-the"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2,27]]},"references-count":18,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2024,2,27]]},"published-print":{"date-parts":[[2024,3,1]]}},"URL":"https:\/\/doi.org\/10.1352\/1944-7558-129.2.91","relation":{},"ISSN":["1944-7558","1944-7515"],"issn-type":[{"value":"1944-7558","type":"electronic"},{"value":"1944-7515","type":"print"}],"subject":[],"published":{"date-parts":[[2024,2,27]]}}}