{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T02:19:07Z","timestamp":1791598747029,"version":"4.3.4"},"reference-count":47,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,7,14]],"date-time":"2015-07-14T00:00:00Z","timestamp":1436832000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2016,2]]},"abstract":"<jats:p>Recent progress in genetic testing has facilitated obtaining an etiologic diagnosis in children with developmental delay\/intellectual disability (<jats:styled-content style=\"fixed-case\">DD<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">ID<\/jats:styled-content>) or multiple congenital anomalies (<jats:styled-content style=\"fixed-case\">MCA<\/jats:styled-content>) or both. Little is known about the benefits of diagnostic elucidation for affected families. We studied the impact of a genetic diagnosis on parental quality of life (<jats:styled-content style=\"fixed-case\">QoL<\/jats:styled-content>) using a validated semiquantitative questionnaire in families with a disabled child investigated by array\u2010based comparative genomic hybridization (<jats:styled-content style=\"fixed-case\">aCGH<\/jats:styled-content>). We received completed questionnaires from 95 mothers and 76 fathers of 99 families. We used multivariate analysis for adjustment of potential confounders. Taken all 99 families together, maternal <jats:styled-content style=\"fixed-case\">QoL<\/jats:styled-content> score (percentile rank scale 51.05) was significantly lower than fathers' <jats:styled-content style=\"fixed-case\">QoL<\/jats:styled-content> (61.83, p = 0.01). Maternal <jats:styled-content style=\"fixed-case\">QoL<\/jats:styled-content> score was 20.17 [95% <jats:styled-content style=\"fixed-case\">CI<\/jats:styled-content> (5.49; 34.82)] percentile rank scales higher in mothers of children with diagnostic (<jats:italic>n<\/jats:italic> = 34)  <jats:styled-content style=\"fixed-case\">aCGH<\/jats:styled-content> as opposed to mothers of children with inconclusive (<jats:italic>n<\/jats:italic> = 65) <jats:styled-content style=\"fixed-case\">aCGH<\/jats:styled-content> (Hedges' g = 0.71). Comparison of these <jats:styled-content style=\"fixed-case\">QoL<\/jats:styled-content> scores with retrospectively recalled <jats:styled-content style=\"fixed-case\">QoL<\/jats:styled-content> before <jats:styled-content style=\"fixed-case\">aCGH<\/jats:styled-content> revealed an increase of maternal <jats:styled-content style=\"fixed-case\">QoL<\/jats:styled-content> after diagnostic clarification. Our results indicate a benefit for maternal <jats:styled-content style=\"fixed-case\">QoL<\/jats:styled-content> if a genetic test, here <jats:styled-content style=\"fixed-case\">aCGH<\/jats:styled-content>, succeeds to clarify the etiologic diagnosis in a disabled child.<\/jats:p>","DOI":"10.1111\/cge.12629","type":"journal-article","created":{"date-parts":[[2015,6,18]],"date-time":"2015-06-18T08:42:49Z","timestamp":1434616969000},"page":"258-266","source":"Crossref","is-referenced-by-count":50,"title":["Obtaining a genetic diagnosis in a child with disability: impact on parental quality of life"],"prefix":"10.1111","volume":"89","author":[{"given":"M.","family":"Lingen","sequence":"first","affiliation":[{"name":"Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, Department of Paediatrics and Adolescent Medicine University of G\u00f6ttingen  G\u00f6ttingen 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