Obtaining a genetic diagnosis in a child with disability: impact on parental quality of life

• Published in: Clinical genetics 2016-02, Vol.89 (2), p.258-266
• Main Authors: Lingen, M., Albers, L., Borchers, M., Haass, S., Gärtner, J., Schröder, S., Goldbeck, L., von Kries, R., Brockmann, K., Zirn, B.
• Format: Article
• Language: English
• Subjects: Adult; array-based comparative genomic hybridization; Child; Children with disabilities; chromosomal microaberration; Comparative Genomic Hybridization; Confounding Factors (Epidemiology); Demography; developmental delay; Developmental Disabilities - diagnosis; Developmental Disabilities - genetics; Families & family life; Female; Genetic testing; Humans; intellectual disability; Male; Mothers; Parents; Quality of Life
• ISSN: 0009-9163; 1399-0004
• DOI: 10.1111/cge.12629

Recent progress in genetic testing has facilitated obtaining an etiologic diagnosis in children with developmental delay/intellectual disability (DD/ID) or multiple congenital anomalies (MCA) 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 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 QoL score (percentile rank scale 51.05) was significantly lower than fathers' QoL (61.83, p = 0.01). Maternal QoL score was 20.17 [95% CI (5.49; 34.82)] percentile rank scales higher in mothers of children with diagnostic (n = 34) aCGH as opposed to mothers of children with inconclusive (n = 65) aCGH (Hedges' g = 0.71). Comparison of these QoL scores with retrospectively recalled QoL before aCGH revealed an increase of maternal QoL after diagnostic clarification. Our results indicate a benefit for maternal QoL if a genetic test, here aCGH, succeeds to clarify the etiologic diagnosis in a disabled child. Section Editor: Aad Tibben, email: [e-mail]