Differences in the information needs of parents with a child with a genetic syndrome:A cross-syndrome study

Abstract

Background: Due to the rarity of some genetic syndromes, information about these syndromes may be difficult for parents of children who are affected to access. Moreover, due to specific behavioral phenotypes and these syndromes often being aggregated in large cohort studies, individual differences in informational needs and support across syndromes are not always reported. Specific aims: This study aimed to identify and contrast the most sought after information by parents on the behavioral characteristics of three genetic syndromes: Cri du Chat (CdCS), Cornelia de Lange (CdLS), and Angelman syndromes (AS). Method: Ninety‐eight parents (51 AS, 23 CdCS, and 24 CdLS) completed an online survey that explored informational needs. Parents selected their three main informational needs from the past 2 years from a list of 32 topics. Findings: Communication, health, and sleep were most frequently selected by parents of children with AS. In CdLS, behavioral changes with age, health, and self‐injury were selected by parents, and in CdCS, health, behavioral changes with age and daily living skills. Significant differences in informational needs of parents between the syndrome groups were found on the topics of behavioral changes with age, communication, autism spectrum disorder symptomatology, self‐injury, and daily living skills. Discussion: The findings show that parents require a wide variety of information regarding their child's genetic syndrome but importantly the most sought after topics of information differ between syndromes. Therefore, it is important to avoid aggregating rare syndromes under broader categories, as individual needs may be missed. Additionally policy and practice should take into consideration the differences in informational needs when tailoring support for families.