Parental stress and adjustment in the context of rare genetic syndromes: A scoping review

Abstract

Chromosomal abnormalities are now considered a common cause of intellectual disability. With increased genetic testing, phenotyping and technological advancements, many new syndromes have been identified. This review sought to explore parental stress and adjustment in the context of rare genetic syndromes to evaluate their clinical impact. A systematic review of English peer-reviewed literature across three databases (PsycINFO, Medline, CINAHL) was completed and 69 articles were included. Parents of children with rare genetic syndromes experienced greater distress relative to other disabilities. Differences in parental wellbeing were syndrome-specific relative to ASD thus demonstrating the need to consider the contribution of syndrome-specific phenotypes. Child emotional and behavioural difficulties were the most consistent predictor of parental distress. Research reflecting other factors such as physical health, syndrome-specific behaviours, benefit finding and, parental appraisal in the context of a rare genetic aetiology is required in order to support parental adjustment in these conditions.

The psychosocial situation of families caring for children with rare diseases during the COVID-19 pandemic: Results of a cross-sectional online survey

“…The current ndings are consistent with pre-pandemic studies demonstrating the immense burden and compromised psychosocial health of caregivers of children with chronic illnesses [54], and particularly in caregivers of children with RDs [21,22,55]. Given the negative impact of the COVID-19 pandemic on the mental health and well-being of children and their families in the general population [12,13], it was reasonable to assume that the pandemic would particularly affect caregivers of children with RDs who were already highly strained before the pandemic.…”

“…In terms of anxiety and activity levels, parents of children with RDs were found to be more affected by the condition of their child than parents of children with more common chronic diseases [21]. Accordingly, a recent scoping review revealed that parents of children with rare genetic syndromes experience higher levels of stress, strain, and mental health di culties compared to parents of children with other disabilities [22]. As the COVID-19 pandemic has severely strained existing healthcare, policy, and research capacity, there are concerns about a setback in the psychosocial care situation of families of children with RD [14].…”

Quality of life of Brazilian families who have children with Rubinstein–Taybi syndrome: An exploratory cross‐sectional study

“…Frequently, parents of children with rare syndromes are challenged throughout their lives by high parental responsibilities due to disease‐specific requirements and limited access to appropriate healthcare to provide a suitable treatment for their children [EURORDIS (European Organization for Rare Disease), 2005]. In this context, child emotional and behavioral difficulties have been the most consistent predictor of parental distress (Fitzgerald & Gallagher, 2021), as well as psychosocial features, such as heightened stress, depressive and anxious symptoms, and lowered social support, which appear to be also relevant for impairing parental quality of life (Boettcher et al, 2021).…”

“…Research has suggested that parents of children with rare genetic syndromes experience more distress than parents of children with Down syndrome or with intellectual disabilities of unknown etiology (Fitzgerald & Gallagher, 2021) and reduced quality of life relative to parents of healthy children, as well as parents of chronically ill children (Boettcher et al, 2021). Frequently, parents of children with rare syndromes are challenged throughout their lives by high parental responsibilities due to disease‐specific requirements and limited access to appropriate healthcare to provide a suitable treatment for their children [EURORDIS (European Organization for Rare Disease), 2005].…”

Experiences of parents of children with rare neurogenetic conditions during the COVID-19 pandemic: an interpretative phenomenological analysis.

“…The COVID-19 pandemic drastically impacted all aspects of daily life in the UK and two years on life has still not returned to normal (1). This is particularly true for children with rare neurological and neurodevelopmental conditions with a known or suspected genetic cause (neurogenetic) and their parents, who represent a unique vulnerable group presenting with complex multi-morbidity of both physical and mental health difficulties (2)(3)(4)(5). Stressors bought on by the pandemic, including changes to routine, social isolation and restrictions, may have exacerbated pre-existing difficulties and vulnerability for poor mental health in both children and their parents.…”