{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T16:20:22Z","timestamp":1790958022292,"version":"4.1.0"},"reference-count":14,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,9,25]],"date-time":"2023-09-25T00:00:00Z","timestamp":1695600000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100011625","name":"Marshfield Clinic Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100011625","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>This study had two aims. Aim one investigated achievement of 10 developmental milestones in children with Bardet\u2010Biedl syndrome (BBS). Aim one data were derived from retrospective responses by caregivers of individuals with BBS who are enrolled in the Clinical Registry Investigating Bardet\u2010Biedl syndrome (CRIBBS). CRIBBS is a natural history registry acquiring serial observations. Aim two investigated early adaptive skills using the Adaptive Behavior Assessment System (ABAS\u2010II 0\u20135) completed by caregivers of children with BBS aged from 0 to 5. There were 652 individuals with milestone information (with some variability based on availability of information for specific milestones), and 101 individuals (including 95 among the 652) with ABAS\u2010II information. Results revealed wide\u2010ranging delays in adaptive skills, particularly in the domain of Self\u2010Care. Expressive language appears to be the most frequently delayed developmental milestone. We found a difference by BBS genotype wherein individuals with <jats:italic>BBS1<\/jats:italic> had higher adaptive\/developmental scores than individuals with <jats:italic>BBS10<\/jats:italic>. Age also carried a significant association with adaptive skills diverging farther from a normative trajectory as children with BBS progress through early childhood.<\/jats:p>","DOI":"10.1002\/ajmg.a.63391","type":"journal-article","created":{"date-parts":[[2023,9,26]],"date-time":"2023-09-26T04:48:56Z","timestamp":1695703736000},"page":"31-38","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Early development and adaptive functioning in children with Bardet\u2010Biedl syndrome"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-0526-1875","authenticated-orcid":false,"given":"Ekaterina","family":"Keifer","sequence":"first","affiliation":[{"name":"Marshfield Clinic Research Institute  Marshfield Wisconsin USA"},{"name":"Department of Neuropsychology Marshfield Clinic Health System  Marshfield Wisconsin USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard L.","family":"Berg","sequence":"additional","affiliation":[{"name":"Marshfield Clinic Research Institute  Marshfield Wisconsin USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jesse G.","family":"Richardson","sequence":"additional","affiliation":[{"name":"Marshfield Clinic Research Institute  Marshfield Wisconsin USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert M.","family":"Haws","sequence":"additional","affiliation":[{"name":"Marshfield Clinic Research Institute  Marshfield Wisconsin USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,9,25]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.36.6.437"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36245"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2018.00023"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.3000414"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-7610.2011.02398.x"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12614"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1080\/13803611.2015.1010545"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2011.03.002"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2288-12-179"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23862"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1177\/1362361317710798"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.316.7139.1236"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/s11689-019-9281-1"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2021-052138"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63391","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,29]],"date-time":"2024-01-29T07:32:59Z","timestamp":1706513579000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63391"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9,25]]},"references-count":14,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,1]]}},"alternative-id":["10.1002\/ajmg.a.63391"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63391","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,9,25]]},"assertion":[{"value":"2023-01-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-08-22","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-09-25","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}