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Auswirkung einer genetischen Diagnose auf die Lebensqualität von Eltern behinderter Kinder

dc.contributor.advisorZirn, Birgit Prof. Dr. Dr.
dc.contributor.authorBorchers, Maike
dc.titleAuswirkung einer genetischen Diagnose auf die Lebensqualität von Eltern behinderter Kinderde
dc.title.translatedImpact of a genetic diagnosis on quality of life of parents of children with disabilitiesde
dc.contributor.refereeZoll, Barbara Prof. Dr.
dc.description.abstractengRecent progress in genetic testing has facilitated obtaining an etiologic diagnosis in children with developmental delay/intellectual disability or multiple congenital anomalies 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 (QoL) using a validated semiquantitative questionnaire in families with a disabled child investigated by array-based comparative genomic hybridization (aCGH). We received complete questionnaires from 56 parents of children with diagnostic aCGH (Group I) and 115 parents of children with inconclusive aCGH (Group II). We used multivariate analysis for adjustment of potential confounders. Taken all parents together, QoL score of group I was higher than QoL score of group II. Maternal QoL score was significantly higher in mothers of children with diagnostic aCGH as opposed to mothers of children with inconclusive aCGH. Comparison of these QoL scores with retrospectively recalled QoL before aCGH revealed an increase of QoL after diagnostic clarification. QoL score of group I mothers was significantly higher after diagnostic clarification compared to QoL score before aCGH. Our results indicate a benefit for QoL if a genetic test, here aCGH, succeeds to clarify the etiologic diagnosis in a disabled
dc.contributor.coRefereeSchön, Margarete Prof. Dr.
dc.subject.enggenetic diagnosisde
dc.subject.engparental quality of lifede
dc.affiliation.instituteMedizinische Fakultätde
dc.subject.gokfullMedizin (PPN619874732)de

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