{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T14:20:40Z","timestamp":1768486840126,"version":"3.49.0"},"reference-count":23,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2021,10,26]],"date-time":"2021-10-26T00:00:00Z","timestamp":1635206400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["1K23NS119666"],"award-info":[{"award-number":["1K23NS119666"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2022,5]]},"abstract":"<jats:sec><jats:title>Aim<\/jats:title><jats:p>To characterize the neurodevelopmental profile and systemic features of HIVEP2\u2010related disorder.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>This study used retrospective medical history and standardized assessment data from Simons Searchlight to describe the clinical characteristics of 12 individuals (eight males, four females; age range 3y 3mo\u201312y 8mo; mean age [SD] 7y 7mo [2y 11mo]) with pathogenic <jats:italic>HIVEP2<\/jats:italic> variants, focusing on their levels of adaptive functioning, autism symptomology, and emotional and behavioral characteristics.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Common features included neonatal complications, hypotonia, developmental delay, intellectual disability, language impairment, gastroesophageal reflux, and strabismus. A minority of individuals had epilepsy, microcephaly, or a movement disorder. Based on the Vineland Adaptive Behavior Scales, Second Edition, affected individuals showed impairments in adaptive behavior (mean composite standard score [SD] 56.4 [10.2]; <jats:italic>n<\/jats:italic>=8). The cohort also had significant impairments in social problems, as measured by the Social Responsiveness Scale, Second Edition (mean total score [SD] 76.4 [11.3]; <jats:italic>n<\/jats:italic>=10) and clinically significant emotional and behavioral difficulties, as measured by the Child Behavior Checklist for ages 6\u201318 (mean total T score [SD] 66.9 [8.2]; <jats:italic>n<\/jats:italic>=8).<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>These results show that individuals with HIVEP2\u2010related disorder have impairments in adaptive and social\u2010related behaviors as well as difficulties in emotional and behavioral symptoms.<\/jats:p><\/jats:sec>","DOI":"10.1111\/dmcn.15100","type":"journal-article","created":{"date-parts":[[2021,10,27]],"date-time":"2021-10-27T04:33:44Z","timestamp":1635309224000},"page":"654-661","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Neurodevelopmental profile of HIVEP2\u2010related disorder"],"prefix":"10.1111","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6435-1227","authenticated-orcid":false,"given":"Alisa","family":"Mo","sequence":"first","affiliation":[{"name":"Department of Neurology Boston Children\u2019s Hospital Boston MA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leeanne G","family":"Snyder","sequence":"additional","affiliation":[{"name":"Simons Foundation New York NY USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Owen","family":"Babington","sequence":"additional","affiliation":[{"name":"Michigan State University East Lansing MI USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wendy K","family":"Chung","sequence":"additional","affiliation":[{"name":"Simons Foundation New York NY USA"},{"name":"Columbia University New York NY USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mustafa","family":"Sahin","sequence":"additional","affiliation":[{"name":"Department of Neurology Boston Children\u2019s Hospital Boston MA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Siddharth","family":"Srivastava","sequence":"additional","affiliation":[{"name":"Department of Neurology Boston Children\u2019s Hospital Boston MA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,10,26]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.19.5.3736"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.jbchem.a003109"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/npp.2013.38"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.brainres.2006.06.018"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neulet.2015.10.037"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.151"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-016-0479-z"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61271"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1159\/000499060"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0039-1683973"},{"key":"e_1_2_9_12_1","volume-title":"Vineland adaptive behavior scales\u20102nd edition manual","author":"Sparrow SS","year":"2005"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/jir.12691"},{"key":"e_1_2_9_14_1","volume-title":"The social responsiveness scale manual, second edition (SRS\u20102)","author":"Constantino J","year":"2012"},{"key":"e_1_2_9_15_1","volume-title":"The social communication questionnaire: manual","author":"Rutter M","year":"2003"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1192\/bjp.175.5.444"},{"key":"e_1_2_9_17_1","volume-title":"Manual for the ASEBA school\u2010age forms & profiles: an integrated system of multi\u2010informant assessment","author":"Achenbach TM","year":"2001"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.rasd.2011.03.009"},{"key":"e_1_2_9_19_1","unstructured":"World Health Organization.The WHO child growth standards.www.who.int\/childgrowth\/standards\/en\/. 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