Differences in the Information Needs of Parents With a Child With a Genetic Syndrome: A Cross‐Syndrome Comparison

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.

New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach

“…Mothers were the most common ImmunoCDGQ respondents (in 82.8%, PMM2-CDG-n = 101/122-and in 87.4% non-PMM2-CDG-n = 76/87). This is similar to what is described in other rare disease studies [21], [39]. In the ImmunoHealthyQ, most participants reported themselves (55.9%, n = 195/349) ( Figure S1B).…”

Using Bayesian methodology to explore the profile of mental health and well-being in 646 mothers of children with 13 rare genetic syndromes in relation to mothers of children with autism

“…In their review of the literature, [ 60 ] highlight the importance of considering the “non-behavioural” aspects that may impact upon parental well-being including the child’s health status, the level of caregiving required, both parent and child personality, child facial characteristics and physical phenotype, and the timing and predictability-expectedness of problems. Parents of children with different syndromes have different concerns about their children [ 61 ] and there may be different levels of parental acceptance and understanding of the genetic cause (including aspects relating to hereditability) and societal acceptance of the genetic syndrome [ 11 ]. In qualitative interviews, mothers of young people with genetic syndromes reported that negative public reactions, difficulties with social inclusion, problems accessing social and medical services and a lack of accessible knowledge about the syndrome, were factors that increased maternal stress [ 62 ].…”

Sleep disorders in rare genetic syndromes: a meta-analysis of prevalence and profile

“…Given that caregivers may not always be aware of individuals' breathing at night-time, and the consequences of sleep disordered breathing include poor quality sleep, fatigue, inattention and excessive daytime sleepiness [62] it is important that these risks are identified rather than using behavioural techniques to treat an underlying biological problem. This is particularly important given that access to information about sleep is a priority for caregivers of children with rare genetic syndromes [28,29]. In Mucopolysaccharidosis II in particular the relative risk of SRBD was 2.41 times greater than Down syndrome, which is considered to be at very high risk for SRBD, such that a proactive screening process has been called for in children with Down syndrome [63].…”

“…If the wrong treatment for a non-specific sleep difficulty is unsuccessful, poor sleep may be presumed to be refractory and perhaps an inevitable aspect of the syndrome (diagnostic overshadowing). Given that parents of individuals with rare syndromes often cite sleep as an area for which they would like more information and support [28,29] it is important to delineate the prevalence and profile of specific sleep disorders in these groups. Therefore, the primary aims of this systematic review and meta-analysis are to document: (1) betweensyndrome and (2) within-syndrome differences in the profile and prevalence of diagnosable sleep disorders using systematic review and meta-analysis.…”