{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,1]],"date-time":"2026-11-01T04:33:59Z","timestamp":1793507639460,"version":"4.5.0"},"reference-count":35,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2021,4,1]],"date-time":"2021-04-01T00:00:00Z","timestamp":1617235200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Int Med Res"],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Rett syndrome (RTT) is a chronic condition that manifest in young children, with concomitant comorbidities such as respiratory problems, scoliosis, epilepsy, and malnutrition, which may affect children\u2019s quality of life (QoL) and family functioning. The objective of this cross-sectional descriptive correlation study was to understand the clinical presentation of RTT in relation to QoL and family functioning.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We included 23 parents of children with RTT. In this study, we used the PedsQL\u2122 Family Impact Module, the Pediatric Quality of Life Inventory 4.0 generic core scales (PedsQL\u2122 4.0), and an author-designed questionnaire to assess QoL and family functioning.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>A significant relationship was observed between PedsQL\u2122 4.0 score and child\u2019s age in the physical functioning dimension. Children aged 8 to 12 years demonstrated significantly higher scores than those in the other age groups. Malnutrition in the child significantly affected functioning of the family in the family relationships dimension. Children receiving 5 hours of rehabilitation treatment a week had significantly higher QoL in the school functioning dimension.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>QOL in children with RTT, as perceived by their parents, is reduced. RTT has a significant negative correlation with family functioning.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/03000605211007714","type":"journal-article","created":{"date-parts":[[2021,4,28]],"date-time":"2021-04-28T02:42:39Z","timestamp":1619577759000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":22,"title":["Clinical presentation of Rett syndrome in relation to quality of life and family functioning"],"prefix":"10.1177","volume":"49","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1727-3235","authenticated-orcid":false,"given":"Anna","family":"Rozensztrauch","sequence":"first","affiliation":[{"name":"Department of Paediatrics, Division of Neonatology, Faculty of Health Science, Wroclaw Medical University, Wroclaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agnieszka","family":"Sebzda","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Department of Propaedeutic of Paediatrics and Rare Disorders, Faculty of Health Science, Wroclaw Medical University, Wroclaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"\u015amigiel","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Department of Propaedeutic of Paediatrics and Rare Disorders, Faculty of Health Science, Wroclaw Medical University, Wroclaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2021,4,27]]},"reference":[{"key":"bibr1-03000605211007714","first-page":"723","volume":"116","author":"Rett A.","year":"1966","journal-title":"Wien Med 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