{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T23:06:44Z","timestamp":1791241604163,"version":"4.1.0"},"reference-count":40,"publisher":"MDPI AG","issue":"23","license":[{"start":{"date-parts":[[2022,12,6]],"date-time":"2022-12-06T00:00:00Z","timestamp":1670284800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJERPH"],"abstract":"<jats:p>Objective: Prader\u2013Willi (PWS; OMIM#176270) syndrome is a clinically distinct genetic disorder, caused by an abnormality in the 15q11-q13 region, referred to as the critical region. One of the most popular concepts existing in modern sciences, not only within psychology, but also in the aspect of all sciences that are related to human life and its course, is the quality of life (QoL). Though it is known that health-related quality of life in children with PWS can be reduced, less is understood about the impact on the family. We aimed to identify factors related to the quality of life of children with PWS and the impact of the disease on family functioning. Methods: A cross-sectional questionnaire survey. The subjects were 46 parents of children with PWS. The Computer Assisted Self-Interviewing (CASI) method was used; the Paediatric Quality of Life Inventory and the PedsQL Family Impact Module. Results: The PedsQL mean score was 49.0; (min\u2013max: 5.6\u201390.8; SD = 16.8), with the highest scores in the Emotional Functioning (EF) (EF; 55.9; min\u2013max: 5.0\u2013100.0; SD = 22.0), and the lowest in the Social Functioning (SF) (SF; 42.7; min\u2013max: 5.0\u201385.0; SD = 18.7) 56.4 (SD \u00b1 14.7). The child\u2019s age does not affect the quality of life, there were no statistically significant (p &gt; 0.05). families have difficulties in performing daily activities (total score 27.6; SD 16.7), support family functioning (total score 28.9; SD 18.8) and effects physical domain (total score 27.7; SD 15.7). Conclusion: Research on the QoL of patients with PWS and their families is very important in order to assess the QoL, but also to provide the perspective of an active change in the perspective of a better treatment process, rehabilitation and communication in society.<\/jats:p>","DOI":"10.3390\/ijerph192316330","type":"journal-article","created":{"date-parts":[[2022,12,7]],"date-time":"2022-12-07T02:18:48Z","timestamp":1670379528000},"page":"16330","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Quality of Life in Children with Prader\u2013Willi Syndrome and the Impact of the Disease on the Functioning of Families"],"prefix":"10.3390","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1727-3235","authenticated-orcid":false,"given":"Anna","family":"Rozensztrauch","sequence":"first","affiliation":[{"name":"Department of Nursing and Obstetrics, Division of Family and Pediatric Nursing, Wroclaw Medical University, 50-367 Wroclaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2930-9549","authenticated-orcid":false,"given":"Robert","family":"\u015amigiel","sequence":"additional","affiliation":[{"name":"Department of Nursing and Obstetrics, Division of Family and Pediatric Nursing, Wroclaw Medical University, 50-367 Wroclaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,12,6]]},"reference":[{"key":"ref_1","unstructured":"World Health Organization (1958). Publications of the World Health Organization."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1016\/S0140-6736(13)61489-0","article-title":"Subjective wellbeing, health, and ageing","volume":"385","author":"Steptoe","year":"2015","journal-title":"Lancet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"e05843","DOI":"10.1016\/j.heliyon.2020.e05843","article-title":"Introducing \u2018holistic psychology\u2019 for life qualities: A theoretical model for consideration","volume":"7","author":"Phan","year":"2021","journal-title":"Heliyon"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"185","DOI":"10.5964\/ejop.v9i1.484","article-title":"Defining Quality of Life: A Wild-Goose Chase?","volume":"9","author":"Barcaccia","year":"2013","journal-title":"Eur. J. Psychol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1186\/s12955-020-01423-y","article-title":"Well-being is more than happiness and life satisfaction: A multidimensional analysis of 21 countries","volume":"18","author":"Ruggeri","year":"2020","journal-title":"Health Qual. Life Outcomes"},{"key":"ref_6","unstructured":"Roberta, A.P., Margaret, P.A., and Holly, H.A. (2014). Prader-Willi syndrome. Gene Review, University of Washington."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1111\/jar.12047","article-title":"Exploring patterns of unwanted behaviours in adults with Prader\u2013Willi syndrome","volume":"26","author":"Pignatti","year":"2013","journal-title":"J. Appl. Res. Intellect. Disabil."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1136","DOI":"10.1002\/ajmg.a.33380","article-title":"Quality of life in rare genetic conditions: A systematic review of the literature","volume":"152","author":"Cohen","year":"2010","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1038\/nrd3654","article-title":"Rare diseases and orphan drugs","volume":"11","author":"Melnikova","year":"2012","journal-title":"Nat. Rev. Drug Discov."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1007\/978-90-481-9485-8_15","article-title":"Quality of life and rare diseases","volume":"686","author":"Rajmil","year":"2010","journal-title":"Adv. Exp. Med. Biol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1186\/s13023-017-0673-6","article-title":"Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome","volume":"12","author":"Bar","year":"2017","journal-title":"Orphanet. J. Rare Dis."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1002\/ca.22686","article-title":"Prader\u2013Willi Syndrome: A spectrum of anatomical and clinical features","volume":"29","author":"Hurren","year":"2016","journal-title":"Clin. Anat."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"e92","DOI":"10.1542\/peds.108.5.e92","article-title":"The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria","volume":"108","author":"Schwartz","year":"2001","journal-title":"Pediatrics"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1038\/ejhg.2008.165","article-title":"Prader-Willi syndrome","volume":"17","author":"Cassidy","year":"2009","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1016\/S2213-8587(21)00002-4","article-title":"Endocrine disorders in Prader-Willi syndrome: A model to understand and treat hypothalamic dysfunction","volume":"9","author":"Tauber","year":"2021","journal-title":"Lancet Diabetes Endocrinol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1590\/1984-0462\/;2018;36;3;00003","article-title":"Prader-Willi Syndrome: What Is the General Pediatrician Supposed to Do?\u2014A Review","volume":"36","author":"Passone","year":"2018","journal-title":"Rev. Paul Pediatr."},{"key":"ref_17","first-page":"52","article-title":"Respiratory Complications in Children with Prader Willi Syndrome","volume":"22","author":"Tan","year":"2017","journal-title":"Paediatr. Respir. Rev."},{"key":"ref_18","doi-asserted-by":"crossref","unstructured":"Kayadjanian, N., Schwartz, L., Farrar, E., Comtois, K.A.V., and Stron, T. (2018). High levels of caregiver burden in Prader-Willi syndrome. PLoS ONE, 13.","DOI":"10.1371\/journal.pone.0194655"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1023\/A:1025865004299","article-title":"Families of children with Prader-Willi syndrome: Stress-support and relations to child characteristics","volume":"27","author":"Hodapp","year":"1997","journal-title":"J. Autism Dev. Disord."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1111\/j.1365-2788.2012.01634.x","article-title":"The impact of Prader\u2013Willi syndrome on the family\u2019s quality of life and caregiving, and the unaffected siblings\u2019 psychosocial adjustment","volume":"57","author":"Mazaheri","year":"2013","journal-title":"J. Intellect. Disabil. Res."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"974","DOI":"10.1002\/ajmg.a.36971","article-title":"Stress and coping in parents of children with Prader-Willi syndrome: Assessment of the impact of a structured plan of care","volume":"167","author":"Tvrdik","year":"2015","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1016\/j.ridd.2016.06.016","article-title":"Quality of life in children with Prader Willi Syndrome: Parent and child reports","volume":"57","author":"Wilson","year":"2016","journal-title":"Res. Dev. Disabil."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"800","DOI":"10.1097\/00005650-200108000-00006","article-title":"PedsQL 4.0: Reliability and validity of the Pediatric Quality of Life Inventory version 4.0 generic core scales in healthy and patient populations","volume":"39","author":"Varni","year":"2001","journal-title":"Med. Care"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1367\/1539-4409(2003)003<0329:TPAAPP>2.0.CO;2","article-title":"The PedsQL 4.0 as a pediatric population health measure: Feasibility, reliability, and validity","volume":"3","author":"Varni","year":"2003","journal-title":"Ambul. Pediatr."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/1477-7525-5-1","article-title":"How young can children reliably and validly self-report their health-related quality of life? An analysis of 8591 children across age subgroups with the PedsQL 4.0 Generic Core Scales","volume":"5","author":"Varni","year":"2007","journal-title":"Health Qual. Life Outcomes"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1186\/1477-7525-5-2","article-title":"Parent proxy-report of their children\u2019s health-related quality of life: An analysis of 13,878 parents\u2019 reliability and validity across age subgroups using the PedsQL 4.0 Generic Core Scales","volume":"5","author":"Varni","year":"2007","journal-title":"Health Qual. Life Outcomes"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1186\/1477-7525-5-43","article-title":"Impaired health-related quality of life in children and adolescents with chronic conditions: A comparative analysis of 10 disease clusters and 33 disease categories\/severities utilizing the PedsQLTM 4.0 Generic Core Scales","volume":"5","author":"Varni","year":"2012","journal-title":"Health Qual. Life Outcomes"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1186\/1477-7525-2-55","article-title":"The PedsQL\u2122 Family Impact Module: Preliminary reliability and validity","volume":"2","author":"Varni","year":"2004","journal-title":"Health Qual. Life Outcomes"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"2126","DOI":"10.1007\/s10803-016-2741-5","article-title":"Life satisfaction among mothers of individuals with Prader-Willi syndrome","volume":"46","author":"Shivers","year":"2016","journal-title":"J. Autism Dev. Disord."},{"key":"ref_30","doi-asserted-by":"crossref","unstructured":"Rozensztrauch, A., Sebzda, A., and \u015amigiel, R. (2021). Clinical presentation of Rett syndrome in relation to quality of life and family functioning. J. Int. Med. Res., 49.","DOI":"10.1177\/03000605211007714"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1111\/j.1545-5300.2008.00238.x","article-title":"Family psychological factors in relation to children\u2019s asthma status and behavioral adjustment at age 4","volume":"47","author":"Klinnert","year":"2008","journal-title":"Fam. Process"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1016\/j.pedn.2015.11.001","article-title":"Parent Recommendations for Family Functioning With Prader-Willi Syndrome: A Rare Genetic Cause of Childhood Obesity","volume":"31","author":"Vitale","year":"2016","journal-title":"J. Pediatr. Nurs."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"1665","DOI":"10.1111\/apa.15738","article-title":"and Roche, E. Prader-Willi Syndrome in children: Quality of life and caregiver burden","volume":"110","author":"Meade","year":"2021","journal-title":"Acta Paediatr."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1111\/j.1365-2788.2010.01348.x","article-title":"Recognition of emotion in facial expression by people with Prader-Willi syndrome","volume":"55","author":"Whittington","year":"2011","journal-title":"J. Intellect. Disabil. Res."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"763","DOI":"10.3109\/09638288.2016.1161838","article-title":"\u201cOver time it just becomes easier\u2026\u201d: Parents of people with Angelman syndrome and Prader-Willi syndrome speak about their carer role","volume":"39","author":"Thomson","year":"2017","journal-title":"Disabil. Rehabil."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1002\/ajmg.a.61915","article-title":"Parenting stress in families of children with Prader-Willi syndrome","volume":"185","author":"Wong","year":"2021","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_37","doi-asserted-by":"crossref","unstructured":"Kowal, K., Skrzypek, M., and Kocki, J. (2022). Experiencing illness as a crisis by the caregivers of individuals with Prader-Willi Syndrome. PLoS ONE, 17.","DOI":"10.1371\/journal.pone.0273295"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1186\/s11689-021-09373-2","article-title":"Behavioral features in Prader-Willi syndrome (PWS): Consensus paper from the International PWS Clinical Trial Consortium","volume":"13","author":"Schwartz","year":"2021","journal-title":"J. Neurodev. Disord."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1016\/S0738-3991(99)00004-X","article-title":"Psychosocial problems, coping strategies, and the need for information of parents of children with Prader-Willi Syndrome and Angelman Syndrome","volume":"38","author":"Rienmeijer","year":"1999","journal-title":"Patient Educ. Couns."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1352\/1944-7558-117.3.207","article-title":"Stress, locus of control, and family cohesion and adaptability in parents of children with Down, Williams, Fragile X, and Prader-Willi Syndromes","volume":"117","author":"Lanfranchi","year":"2012","journal-title":"Am. J. Intellect. Dev. Disabil."}],"container-title":["International Journal of Environmental Research and Public Health"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1660-4601\/19\/23\/16330\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:34:57Z","timestamp":1760146497000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1660-4601\/19\/23\/16330"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,6]]},"references-count":40,"journal-issue":{"issue":"23","published-online":{"date-parts":[[2022,12]]}},"alternative-id":["ijerph192316330"],"URL":"https:\/\/doi.org\/10.3390\/ijerph192316330","relation":{},"ISSN":["1660-4601"],"issn-type":[{"value":"1660-4601","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,12,6]]}}}