Eur J Med Genet. 2024 Nov 25:104984. doi: 10.1016/j.ejmg.2024.104984. Online ahead of print.
ABSTRACT
INTRODUCTION: Achondroplasia is a common skeletal dysplasia caused by a mutation in the FGFR3 gene, leading to disproportionate short stature and various clinical features. Despite the absence of definitive pharmacological treatments, mindfulness-based interventions may offer psychosocial benefits for affected individuals and their families.
OBJECTIVES: This study aimed to assess the feasibility and psychosocial effects of an online mindfulness intervention for children and adolescents with achondroplasia and their parents.
METHODOLOGY: The intervention was an eight-week, synchronous online program with 15 participants: seven children and adolescents with achondroplasia and eight parents. Quantitative outcomes were assessed pre-and post-intervention using the State-Trait Anxiety Inventory for Children (STAIC) and the Multifactorial Self-Assessment Child Adaptation Test (TAMAI) for the younger participants, along with the Brief Symptom Inventory (BSI-18) for parents. Participant satisfaction was assessed using a customized survey, and qualitative data were collected through semi-structured interviews.
RESULTS: The study demonstrated high feasibility, with 84.61% adherence and 93.75% participant satisfaction. Average anxiety levels decreased in children and adolescents (30.60 ± 5.12 to 26.80 ± 6.94, p=.285) and parents (3.67 ± 3.98 to 1.00 ± 0.89, p=.066). Emotional regulation was the most reported improvement category by children and adolescents (31.4%), while general well-being was the most noted by parents (29.63%).
CONCLUSIONS: The results support the feasibility of this online mindfulness intervention for individuals with achondroplasia and their parents, indicating benefits for psychosocial well-being. Future studies should address these limitations by expanding sample sizes, exploring hybrid intervention models, and ensuring data anonymity. Integrating mindfulness into comprehensive psychosocial care strategies could enhance the quality of life for these populations.
PMID:39603591 | DOI:10.1016/j.ejmg.2024.104984
