Psychosocial Well‐Being and Caregiving Challenges Among Parents of Children With 1p36 Deletion Syndrome

BACKGROUND: The 1p36 deletion syndrome is a subtelomeric deletion syndrome characterized by developmental delay, epilepsy, and distinctive facial features. The diagnostic rate has improved with advances in genetic testing, including chromosomal microarray analysis. However, little is known about the psychosocial impact of a child's diagnosis on parents. This study aimed to explore the psychosocial experiences related to parenting among parents of children with 1p36 deletion syndrome. METHODS: The questionnaire survey was conducted among parents of children with 1p36 deletion syndrome, through the Japanese family association related to the syndrome. The questionnaire included items on the characteristics of parents and their children, information sources for 1p36 deletion syndrome, and complications and issues related to this syndrome. Parental mental health was assessed using measures of psychological distress and subjective well-being, with affiliate stigma examined as a key factor associated with mental health outcomes, along with other psychological variables including parental strain and self-esteem. RESULTS: Thirty-nine parents (mean age: 43.1 years) responded to the questionnaire. The mean age of the child at diagnosis was 1.9 years. Most parents obtained information from the internet, and information from medical and genetic specialists was limited. Parental challenges in medical and welfare aspects were diverse and varied by the child's developmental stage. Exploratory path analysis suggested that the association between affiliate stigma and mental health may be mediated by parental strain and self-esteem. Furthermore, affiliate stigma was significantly higher in parents of children with 1p36 deletion syndrome than in those with Down syndrome. CONCLUSIONS: Parents of children with 1p36 deletion syndrome experience limited access to information from medical and genetic specialists, diverse medical and welfare challenges across developmental stages, and potentially high levels of affiliate stigma. These findings suggest the need for psychosocial support that considers the potential impact of affiliate stigma and is tailored to the evolving challenges experienced across the child's developmental stages.