{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T14:02:07Z","timestamp":1792245727615,"version":"4.4.0"},"reference-count":67,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,9,6]],"date-time":"2019-09-06T00:00:00Z","timestamp":1567728000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100001951","name":"Angelman Syndrome Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001951","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000066","name":"National Institute of Environmental Health Sciences","doi-asserted-by":"publisher","award":["R35ES028366\u201001A1"],"award-info":[{"award-number":["R35ES028366\u201001A1"]}],"id":[{"id":"10.13039\/100000066","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000893","name":"Simons Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000893","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Autism Research"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:sec><jats:label\/><jats:p>Angelman syndrome (AS) is a rare neurodevelopmental disorder caused by mutation or deletion of the maternally inherited<jats:italic>UBE3A<\/jats:italic>allele. These pathogenic mutations lead to loss of maternal<jats:italic>UBE3A<\/jats:italic>expression in neurons. Antisense oligonucleotides and gene therapies are in development, which activate the intact but epigenetically silenced paternal<jats:italic>UBE3A<\/jats:italic>allele. Preclinical studies indicate that treating during the prenatal period could greatly reduce the severity of symptoms or prevent AS from developing. Genetic tests can detect the chromosome 15q11\u2010q13 deletion that is the most common cause of AS. New, highly sensitive noninvasive prenatal tests that take advantage of single\u2010cell genome sequencing technologies are expected to enter the clinic in the coming years and make early genetic diagnosis of AS more common. Efforts are needed to identify fetuses and newborns with maternal 15q11\u2010q13 deletions and to phenotype these babies relative to neurotypical controls. Clinical and parent observations suggest AS symptoms are detectable in infants, including reports of problems with feeding and motor function. Quantitative phenotypes in the 0\u2010 to 1\u2010year age range will permit a more rapid assessment of efficacy when future treatments are administered prenatally or shortly after birth. Although prenatal therapies are currently not available for AS, prenatal testing combined with prenatal treatment has the potential to revolutionize how clinicians detect and treat babies before they are symptomatic. This pioneering prenatal treatment path for AS will lay the foundation for treating other syndromic neurodevelopmental disorders.<jats:italic><jats:bold>Autism Res<\/jats:bold>2020, 13: 11\u201317<\/jats:italic>. \u00a9 2019 International Society for Autism Research, Wiley Periodicals, Inc.<\/jats:p><\/jats:sec><jats:sec><jats:title>Lay summary<\/jats:title><jats:p>Prenatal treatment could benefit expectant parents whose babies test positive for the chromosome microdeletion that causes Angelman syndrome (AS). Prenatal treatment is predicted to have better outcomes than treating after symptoms develop and may even prevent AS altogether. This approach could generally be applied to the treatment of other syndromic neurodevelopmental disorders.<\/jats:p><\/jats:sec>","DOI":"10.1002\/aur.2203","type":"journal-article","created":{"date-parts":[[2019,9,6]],"date-time":"2019-09-06T14:04:03Z","timestamp":1567778643000},"page":"11-17","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Prenatal treatment path for angelman syndrome and other neurodevelopmental disorders"],"prefix":"10.1002","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0911-7902","authenticated-orcid":false,"given":"Mark J.","family":"Zylka","sequence":"first","affiliation":[{"name":"UNC Neuroscience Center The University of North Carolina at Chapel Hill Chapel Hill North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,9,6]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1014379"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41593-019-0425-0"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/mt.2015.236"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2014.06.017"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.9.e51"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamapediatrics.2014.210"},{"key":"e_1_2_9_8_1","doi-asserted-by":"crossref","first-page":"e837","DOI":"10.1002\/mgg3.837","article-title":"Preserved expressive language as a phenotypic determinant of mosaic Angelman syndrome","author":"Carson R. P.","year":"2019","journal-title":"Molecular Genetics & Genomic Medicine"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0067680"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.2001.6543"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.siny.2007.06.001"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1159\/000082432"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000002831"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1089\/humc.2016.119"},{"key":"e_1_2_9_15_1","volume-title":"GeneReviews((R))","author":"Dagli A. I.","year":"1993"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.2194-15.2015"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ddrr.101"},{"key":"e_1_2_9_18_1","volume-title":"General clinical pharmacology considerations for neonatal studies for drugs and biological products guidance for industry","author":"Food and Drug Administration","year":"2019"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1097\/OGX.0000000000000342"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/mt.2015.99"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1089\/hum.2016.087"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1089\/hum.2019.012"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature10726"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbr.2012.12.052"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2019.03.020"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.stemcr.2018.07.003"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)80596-6"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature12504"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4948"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkh670"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2014.06.038"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.2217\/epi.15.70"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38072"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0467-4"},{"issue":"4","key":"e_1_2_9_35_1","first-page":"689","article-title":"Toward the ethical evaluation and use of maternal\u2010fetal surgery","volume":"98","author":"Lyerly A. D.","year":"2001","journal-title":"Obstetrics and Gynecology"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tins.2011.04.001"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1413204111"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41591-018-0106-7"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.aau0629"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0197-74"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.aal1641"},{"key":"e_1_2_9_42_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1706198"},{"key":"e_1_2_9_43_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds130"},{"key":"e_1_2_9_44_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature13975"},{"key":"e_1_2_9_45_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.20-05-01858.2000"},{"key":"e_1_2_9_46_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh296"},{"key":"e_1_2_9_47_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.aad5143"},{"key":"e_1_2_9_48_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41591-019-0344-3"},{"key":"e_1_2_9_49_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22800"},{"issue":"3","key":"e_1_2_9_50_1","first-page":"577","article-title":"Behavior and neuropsychiatric manifestations in Angelman syndrome","volume":"4","author":"Pelc K.","year":"2008","journal-title":"Neuropsychiatric Disease and Treatment"},{"key":"e_1_2_9_51_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2004.00362.x"},{"key":"e_1_2_9_52_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2017.10.005"},{"issue":"2","key":"e_1_2_9_53_1","first-page":"57","article-title":"Newborn screening","volume":"31","author":"Pitt J. J.","year":"2010","journal-title":"Clinical Biochemist Reviews"},{"key":"e_1_2_9_54_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ghir.2017.03.001"},{"key":"e_1_2_9_55_1","doi-asserted-by":"publisher","DOI":"10.1089\/humc.2017.010"},{"key":"e_1_2_9_56_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI80554"},{"key":"e_1_2_9_57_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13229-019-0277-1"},{"key":"e_1_2_9_58_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13229-018-0231-7"},{"key":"e_1_2_9_59_1","doi-asserted-by":"publisher","DOI":"10.1038\/gt.2015.65"},{"key":"e_1_2_9_60_1","doi-asserted-by":"publisher","DOI":"10.1159\/000028645"},{"key":"e_1_2_9_61_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2015.1807"},{"key":"e_1_2_9_62_1","doi-asserted-by":"publisher","DOI":"10.1038\/mp.2015.5"},{"key":"e_1_2_9_63_1","doi-asserted-by":"publisher","DOI":"10.1089\/hum.2017.150"},{"key":"e_1_2_9_64_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.semperi.2018.07.004"},{"key":"e_1_2_9_65_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5377"},{"key":"e_1_2_9_66_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2014.11.041"},{"key":"e_1_2_9_67_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31074"},{"key":"e_1_2_9_68_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.5746-12.2013"}],"container-title":["Autism Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Faur.2203","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/aur.2203","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/aur.2203","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/aur.2203","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,19]],"date-time":"2023-09-19T23:02:06Z","timestamp":1695164526000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/aur.2203"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,9,6]]},"references-count":67,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,1]]}},"alternative-id":["10.1002\/aur.2203"],"URL":"https:\/\/doi.org\/10.1002\/aur.2203","archive":["Portico"],"relation":{},"ISSN":["1939-3792","1939-3806"],"issn-type":[{"value":"1939-3792","type":"print"},{"value":"1939-3806","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,9,6]]},"assertion":[{"value":"2019-07-25","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-08-20","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-09-06","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}