{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T10:45:14Z","timestamp":1761734714868,"version":"build-2065373602"},"reference-count":42,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100002833","name":"Cerebra","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002833","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2021,9]]},"DOI":"10.1016\/j.ejmg.2021.104279","type":"journal-article","created":{"date-parts":[[2021,6,24]],"date-time":"2021-06-24T07:55:29Z","timestamp":1624521329000},"page":"104279","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"title":["The adaptive functioning profile of Pitt-Hopkins syndrome"],"prefix":"10.1016","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4328-1653","authenticated-orcid":false,"given":"Effie","family":"Pearson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5987-1017","authenticated-orcid":false,"given":"Alice","family":"Watkins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chris","family":"Oliver","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amna","family":"Karim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jill","family":"Clayton-Smith","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alice","family":"Welham","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"5","key":"10.1016\/j.ejmg.2021.104279_bib1","doi-asserted-by":"crossref","first-page":"988","DOI":"10.1086\/515582","article-title":"Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction","volume":"80","author":"Amiel","year":"2007","journal-title":"Am. J. Hum. Genet."},{"year":"2006","series-title":"Bayley Scales of Infant and Toddler Development","author":"Bayley","key":"10.1016\/j.ejmg.2021.104279_bib2"},{"issue":"12","key":"10.1016\/j.ejmg.2021.104279_bib3","doi-asserted-by":"crossref","first-page":"1488","DOI":"10.1093\/hmg\/ddm099","article-title":"Severe mental retardation with breathing abnormalities (Pitt\u2013Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4","volume":"16","author":"Brockschmidt","year":"2007","journal-title":"Hum. Mol. Genet."},{"issue":"4","key":"10.1016\/j.ejmg.2021.104279_bib4","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1002\/(SICI)1096-8628(19981204)80:4<385::AID-AJMG15>3.0.CO;2-9","article-title":"Angelman syndrome: are the estimates too low?","volume":"80","author":"Buckley","year":"1998","journal-title":"Am. J. Med. Genet."},{"issue":"7","key":"10.1016\/j.ejmg.2021.104279_bib5","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1111\/j.1469-8749.2001.tb00746.x","article-title":"Angelman syndrome: evolution of the phenotype in adolescents and adults","volume":"43","author":"Clayton-Smith","year":"2001","journal-title":"Dev. Med. Child Neurol."},{"key":"10.1016\/j.ejmg.2021.104279_bib6","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1044\/1058-0360(2002\/039)","article-title":"Use of enhanced natural gestures to foster interactions between children with angelman syndrome and their parents","volume":"11","author":"Calculator","year":"2002","journal-title":"Am. J. Speech Lang. Pathol"},{"issue":"2","key":"10.1016\/j.ejmg.2021.104279_bib7","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1136\/jmg.40.2.87","article-title":"Angelman syndrome: a review of the clinical and genetic aspects","volume":"40","author":"Clayton-Smith","year":"2003","journal-title":"J. Med. Genet."},{"year":"1988","series-title":"Statistical Power Analysis for the Behavioral Sciences","author":"Cohen","key":"10.1016\/j.ejmg.2021.104279_bib8"},{"issue":"1","key":"10.1016\/j.ejmg.2021.104279_bib9","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1186\/s13023-016-0422-2","article-title":"Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system","volume":"11","author":"de Winter","year":"2016","journal-title":"Orphanet J. Rare Dis."},{"issue":"1","key":"10.1016\/j.ejmg.2021.104279_bib10","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1037\/a0024338","article-title":"Effect size estimates: current use, calculations, and interpretation","volume":"141","author":"Fritz","year":"2012","journal-title":"J. Exp. Psychol. Gen."},{"issue":"7","key":"10.1016\/j.ejmg.2021.104279_bib11","doi-asserted-by":"crossref","first-page":"592","DOI":"10.1097\/DBP.0b013e3181ee408e","article-title":"A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations","volume":"31","author":"Gentile","year":"2010","journal-title":"J. Dev. Behav. Pediatr."},{"issue":"3","key":"10.1016\/j.ejmg.2021.104279_bib12","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1177\/0883073817750490","article-title":"Pitt-Hopkins syndrome: a review of current literature, clinical approach, and 23-patient case series","volume":"33","author":"Goodspeed","year":"2018","journal-title":"J. Child Neurol."},{"issue":"5","key":"10.1016\/j.ejmg.2021.104279_bib13","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1111\/j.1365-2788.2008.01047.x","article-title":"Health and sleep problems in Cornelia de Lange syndrome: a case control study","volume":"52","author":"Hall","year":"2008","journal-title":"J. Intellect. Disabil. Res."},{"issue":"6","key":"10.1016\/j.ejmg.2021.104279_bib14","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1007\/s00439-011-1020-y","article-title":"The role of the TCF4 gene in the phenotype of individuals with 18q segmental deletions","volume":"130","author":"Hasi","year":"2011","journal-title":"Hum. Genet."},{"issue":"1","key":"10.1016\/j.ejmg.2021.104279_bib15","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1352\/0895-8017(2001)106<0004:SBROGM>2.0.CO;2","article-title":"Strengthening behavioral research on genetic mental retardation syndromes","volume":"106","author":"Hodapp","year":"2001","journal-title":"Am. J. Ment. Retard."},{"issue":"1","key":"10.1016\/j.ejmg.2021.104279_bib16","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1111\/j.1365-2788.2005.00730.x","article-title":"The behavioural phenotype of Angelman syndrome","volume":"50","author":"Horsler","year":"2006","journal-title":"J. Intellect. Disabil. Res."},{"issue":"1","key":"10.1016\/j.ejmg.2021.104279_bib17","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1136\/adc.69.1.148","article-title":"Communication development in Angelman's syndrome","volume":"69","author":"Jolleff","year":"1993","journal-title":"Arch. Dis. Child."},{"key":"10.1016\/j.ejmg.2021.104279_bib18","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1017\/S0033291700054271","article-title":"A method of rating behavior characteristics for use in large scale surveys of mental handicap","volume":"3","author":"Kushlick","year":"1973","journal-title":"Psychol. Med."},{"issue":"3","key":"10.1016\/j.ejmg.2021.104279_bib19","doi-asserted-by":"crossref","DOI":"10.1002\/ajmg.1320590331","article-title":"On the prevalence of Angelman syndrome","volume":"59","author":"Kyllerman","year":"1995","journal-title":"Am. J. Med. Genet."},{"issue":"12","key":"10.1016\/j.ejmg.2021.104279_bib20","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1136\/jmg.38.12.834","article-title":"Distinct phenotypes distinguish the molecular classes of Angelman syndrome","volume":"38","author":"Lossie","year":"2001","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2021.104279_bib21","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1055\/s-0035-1564570","article-title":"Pitt\u2013Hopkins syndrome and differential diagnosis: a molecular and clinical challenge","volume":"4","author":"Marangi","year":"2015","journal-title":"J. Pediatr. Genet."},{"issue":"7","key":"10.1016\/j.ejmg.2021.104279_bib22","doi-asserted-by":"crossref","first-page":"1742","DOI":"10.1016\/j.ridd.2014.02.018","article-title":"Neurodevelopmental outcome in Angelman syndrome: genotype\u2013phenotype correlations","volume":"35","author":"Mertz","year":"2014","journal-title":"Res. Dev. Disabil."},{"issue":"10","key":"10.1016\/j.ejmg.2021.104279_bib23","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1111\/j.1365-2788.2009.01197.x","article-title":"Autism spectrum disorders in genetic syndromes: implications for diagnosis, intervention and understanding the wider autism spectrum disorder population","volume":"53","author":"Moss","year":"2009","journal-title":"J. Intellect. Disabil. Res."},{"issue":"8","key":"10.1016\/j.ejmg.2021.104279_bib25","first-page":"670","article-title":"Communication in Angelman syndrome: an isolated problem of speech production?","volume":"62","author":"Pearson","year":"2018","journal-title":"J. Intellect. Disabil. Res."},{"issue":"3","key":"10.1016\/j.ejmg.2021.104279_bib26","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1002\/ajmg.1320600317","article-title":"Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: estimated prevalence rate in a Danish county","volume":"60","author":"Petersen","year":"1995","journal-title":"Am. J. Med. Genet."},{"issue":"2","key":"10.1016\/j.ejmg.2021.104279_bib27","doi-asserted-by":"crossref","first-page":"91","DOI":"10.3109\/17518423.2011.651537","article-title":"Functional analysis and functional communication training in individuals with Angelman syndrome","volume":"15","author":"Radstaake","year":"2012","journal-title":"Dev. Neurorehabil."},{"issue":"11","key":"10.1016\/j.ejmg.2021.104279_bib28","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1097\/GIM.0b013e3181bd38a9","article-title":"Genotype\u2013phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations","volume":"11","author":"Rosenfeld","year":"2009","journal-title":"Genet. Med."},{"year":"2003","series-title":"The Social Communication Questionnaire: Manual","author":"Rutter","key":"10.1016\/j.ejmg.2021.104279_bib29"},{"key":"10.1016\/j.ejmg.2021.104279_bib30","first-page":"1","article-title":"Developmental skills of individuals with angelman syndrome assessed using the bayley-III","author":"Sadhwani","year":"2021","journal-title":"J. Autism Dev. Disord."},{"year":"1984","series-title":"Vineland Adaptive Behaviour Scales. Interview Edition, Survey Form Manual","author":"Sparrow","key":"10.1016\/j.ejmg.2021.104279_bib31"},{"year":"2005","series-title":"Vineland II: Vineland Adaptive Behavior Scales","author":"Sparrow","key":"10.1016\/j.ejmg.2021.104279_bib32"},{"issue":"5","key":"10.1016\/j.ejmg.2021.104279_bib33","doi-asserted-by":"crossref","first-page":"e21","DOI":"10.1038\/emm.2013.32","article-title":"Pitt\u2013Hopkins syndrome: intellectual disability due to loss of TCF4-regulated gene transcription","volume":"45","author":"Sweatt","year":"2013","journal-title":"Exp. Mol. Med."},{"issue":"3","key":"10.1016\/j.ejmg.2021.104279_bib34","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1111\/j.1399-0004.2010.01380.x","article-title":"Two percent of patients suspected of having Angelman syndrome have TCF4 mutations","volume":"78","author":"Takano","year":"2010","journal-title":"Clin. Genet."},{"issue":"4","key":"10.1016\/j.ejmg.2021.104279_bib35","doi-asserted-by":"crossref","first-page":"975","DOI":"10.1002\/ajmg.a.36416","article-title":"If not Angelman, what is it? A review of Angelman\u2010like syndromes","volume":"164","author":"Tan","year":"2014","journal-title":"Am. J. Med. Genet."},{"issue":"2","key":"10.1016\/j.ejmg.2021.104279_bib36","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1016\/j.ridd.2010.12.008","article-title":"Phenotype\u2013environment interactions in genetic syndromes associated with severe or profound intellectual disability","volume":"32","author":"Tunnicliffe","year":"2011","journal-title":"Res. Dev. Disabil."},{"issue":"10","key":"10.1016\/j.ejmg.2021.104279_bib37","doi-asserted-by":"crossref","first-page":"925","DOI":"10.1111\/j.1469-8749.2012.04339.x","article-title":"Development, cognition, and behaviour in Pitt\u2013Hopkins syndrome","volume":"54","author":"Van Balkom","year":"2012","journal-title":"Dev. Med. Child Neurol."},{"issue":"10","key":"10.1016\/j.ejmg.2021.104279_bib38","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1016\/j.paed.2014.05.002","article-title":"The importance of understanding the behavioural phenotypes of genetic syndromes associated with intellectual disability","volume":"24","author":"Waite","year":"2014","journal-title":"Paediatr. Child Health"},{"issue":"1","key":"10.1016\/j.ejmg.2021.104279_bib39","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1186\/s11689-019-9282-0","article-title":"Behavioural and psychological characteristics in Pitt-Hopkins syndrome: a comparison with Angelman and Cornelia de Lange syndromes","volume":"11","author":"Watkins","year":"2019","journal-title":"J. Neurodev. Disord."},{"issue":"1","key":"10.1016\/j.ejmg.2021.104279_bib40","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1002\/humu.21639","article-title":"Novel comprehensive diagnostic strategy in Pitt\u2013Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum","volume":"33","author":"Whalen","year":"2012","journal-title":"Hum. Mutat."},{"issue":"7","key":"10.1016\/j.ejmg.2021.104279_bib41","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1097\/GIM.0b013e3181def138","article-title":"Clinical and genetic aspects of Angelman syndrome","volume":"12","author":"Williams","year":"2010","journal-title":"Genet. Med."},{"issue":"5","key":"10.1016\/j.ejmg.2021.104279_bib42","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1002\/ajmg.a.31074","article-title":"Angelman syndrome 2005: updated consensus for diagnostic criteria","volume":"140","author":"Williams","year":"2006","journal-title":"Am. J. Med. Genet."},{"issue":"11","key":"10.1016\/j.ejmg.2021.104279_bib43","doi-asserted-by":"crossref","first-page":"738","DOI":"10.1136\/jmg.2008.060129","article-title":"Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of sixteen novel patients","volume":"45","author":"Zweier","year":"2008","journal-title":"J. Med. Genet."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721221001452?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721221001452?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:52:00Z","timestamp":1761709920000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721221001452"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9]]},"references-count":42,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2021,9]]}},"alternative-id":["S1769721221001452"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2021.104279","relation":{},"ISSN":["1769-7212"],"issn-type":[{"type":"print","value":"1769-7212"}],"subject":[],"published":{"date-parts":[[2021,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"The adaptive functioning profile of Pitt-Hopkins syndrome","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2021.104279","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Crown Copyright \u00a9 2021 Published by Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"104279"}}