Study: Positive Genetic Testing Increases Maternal Quality of Life

Obtaining a Genetic Diagnosis in a Child with Disability: Impact on Parental Quality of Life

Keywords:

• Developmental delay;
• intellectual disability;
• array-based comparative genomic hybridization;
• chromosomal microaberration;
• quality of life

Abstract

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 CGH. 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) array CGH as opposed to mothers of children with inconclusive (n = 65) array CGH (Hedges' g 0,71). Comparison of these QoL scores with retrospectively recalled QoL before array CGH revealed an increase of maternal QoL after diagnostic clarification. Our results indicate a benefit for maternal QoL if a genetic test, here array CGH, succeeds to clarify the etiologic diagnosis in a disabled child.

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