“How can we help our children if no one’s helping us?”: Parent and clinician priorities for mental health support in children with rare genetic conditions who have intellectual and developmental disabilities – a framework analysis

Background Next-generation sequencing technologies are now routinely used in the NHS to identify rare genetic conditions (RGCs) in children with intellectual and developmental disabilities (IDDs). As such, the proportion of children diagnosed in early childhood (<6 years) is rising rapidly. The risk of mental health conditions in this group is high, however anecdotal accounts suggest little mental health support is provided. The present study aimed to (1) define the challenges and facilitators in accessing mental health support for families caring for children with RGC and IDD, and (2) explore family and healthcare professional priorities for mental health support. Focus groups were conducted with parents of children with RGC and IDD and neurodisability medical professionals. De-identified transcripts of interviews were analysed using Framework Analysis. Eleven parents of children with RGC and IDD (anxiety problems n = 7; behavioural difficulties n = 4), and four professionals participated in the focus groups. Results The framework analysis identified general healthcare challenges related to having an RGC, including an absence of information in ‘the big black hole’ of the post-diagnostic void, ‘falling between the cracks’ and being stuck in a loop of referrals. It also identified barriers that were specific to accessing mental health support, including difficulties in understanding how to navigate services, diagnostic overshadowing (where the RGC diagnosis acted as an exclusion criterion for accessing services) and the emotional burden of seeking mental health support. Facilitators in accessing mental health support included parental resilience, happenstance, finding key advocates and getting other diagnoses that were more widely recognised. Parent and practitioner priorities for support were aligned. They included support for families post-genetic diagnosis, training and education for healthcare professionals, early mental health support and care-co-ordination. Conclusion Children with IDD and RGC diagnosed in early childhood and their caregivers face unique challenges in accessing mental health support for their child. Innovative approaches are needed to support parents caring for an IDD child diagnosed with RGC in early infancy and to provide better training for professionals on RGC management.