Mental health challenges and psychosocial impact of rare diseases in children and adolescents -a systematic review

Abstract Aim This systematic review aims to explore the psychosocial impact and mental health challenges of childeren and adoloscents with rare diseases (RDs) and their families. It examines their daily challenges, emotional distress, coping mechanisms, and resilience strategies while identifying systemic gaps in care and support. Methods The review adhered to PRISMA guidelines, employing a comprehensive search of databases; Google Scholar, PubMed and PsycINFO. Studies were selected based on predefined criteria and appraised for quality using the Mixed Methods Appraisal Tool (MMAT). Both qualitative and mixed method studies were included, focusing on mental health challenges, caregiver stress, coping mechanisms, and resilience strategies. Results Children and adolescents with RDs face significant emotional distress, including anxiety, depression, and a diminished quality of life, which are exacerbated by physical limitations, frequent hospitalizations, and social exclusion. Meanwhile, their primary caregivers endure profound emotional and financial burdens, compounded by the demands of advocacy roles and navigating fragmented care systems. Although families adopt various coping mechanisms, such as peer support and creative outlets like art therapy, systemic gaps in psychosocial support and access to interdisciplinary care remain prevalent. Conclusion The findings underscore the need for integrated, family-centred care models that address the multifaceted challenges of living with RDs. By fostering holistic medical, psychological, and social support systems, these models can enhance resilience, reduce the psychosocial burden, and improve the overall quality of life for children with RDs and their care.