{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,8]],"date-time":"2026-04-08T01:14:08Z","timestamp":1775610848253,"version":"3.50.1"},"reference-count":41,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>This study examines the quality of life, functional independence, and family impact of children diagnosed with Joubert Syndrome (JS) to address gaps in the literature on its developmental and psychosocial challenges. A descriptive, cross\u2010sectional study was conducted with 49 parents of children with JS in Turkey. Data were collected using the Pediatric Quality of Life Inventory, Pediatric Functional Independence Measure, and Impact on Family Scale. Statistical analyses included descriptive and reliability assessments. Children with JS exhibited significant motor and cognitive delays, reduced functional independence, and lower quality of life. Feeding difficulties affected 38.8% of participants, highlighting the need for early nutritional interventions. Consanguineous marriage was reported by 61.2% of families, yet only 8.2% underwent genetic screening, emphasizing the importance of genetic counseling. Parents faced high psychosocial and economic burdens, underscoring the need for structured family support programs. The findings highlight the need for early, multidisciplinary interventions, including physical and speech therapy, nutritional support, and psychosocial care, to enhance functional independence and overall well\u2010being. A comprehensive care model integrating neurology, pulmonology, rehabilitation, and genetic counseling is essential for improving outcomes in JS. A family\u2010centered, multidisciplinary approach should be prioritized to improve patient care and caregiver support. Expanding rehabilitation services, genetic counseling, and structured family education can enhance long\u2010term quality of life and independence in children with JS.<\/jats:p>","DOI":"10.1002\/ajmg.a.64213","type":"journal-article","created":{"date-parts":[[2025,8,2]],"date-time":"2025-08-02T03:09:22Z","timestamp":1754104162000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Joubert Syndrome in Children\u2014A Comprehensive Analysis of Quality of Life, Functional Independence and Family Impact"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4830-1625","authenticated-orcid":false,"given":"Erhan","family":"Elmao\u011flu","sequence":"first","affiliation":[{"name":"Department of Nursing Kilis 7 Aralik University, Faculty of Health Sciences  Kilis Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5998-7474","authenticated-orcid":false,"given":"Adnan Batuhan","family":"Co\u015fkun","sequence":"additional","affiliation":[{"name":"Department of Nursing Hasan Kalyoncu University, Faculty of Health Sciences  Gaziantep Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4820-9490","authenticated-orcid":false,"given":"Serkan","family":"Usgu","sequence":"additional","affiliation":[{"name":"Department of Physical Therapy and Rehabilitation Hasan Kalyoncu University, Faculty of Health Sciences  Gaziantep Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2527-5700","authenticated-orcid":false,"given":"Zerrin","family":"\u00c7i\u011fdem","sequence":"additional","affiliation":[{"name":"Department of Nursing Istanbul Topkapi University, Faculty of Health Sciences  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1324-0148","authenticated-orcid":false,"given":"Selda Y\u00fczer","family":"Alsa\u00e7","sequence":"additional","affiliation":[{"name":"Department of Nursing Bozok University, Faculty of Health Sciences  Yozgat Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,8]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.31125\/hunhemsire.1102081"},{"issue":"1","key":"e_1_2_9_3_1","first-page":"39","article-title":"Joubert Syndrome in Three Children in A Family: A Case Series","volume":"7","author":"Akhondian J.","year":"2013","journal-title":"Iranian Journal of Child Neurology"},{"issue":"2","key":"e_1_2_9_4_1","first-page":"1","article-title":"The Burden of Care in the Parents of the Children With Chronic Disease","volume":"4","author":"Alahan N. 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