What are the recommended referral pathways for children diagnosed with Fragile X Syndrome for further support and management?

Children diagnosed with Fragile X Syndrome should be referred to multidisciplinary specialist services for comprehensive assessment and management due to the complex neurodevelopmental and behavioural features associated with the condition. Referral pathways typically involve paediatricians or paediatric neurologists initially, who can then coordinate access to multidisciplinary teams including speech and language therapists, psychologists, occupational therapists, and child and adolescent psychiatrists. This approach aligns with pathways recommended for genetic and neurodevelopmental disorders such as autism spectrum disorder, which shares overlapping features with Fragile X Syndrome.

Specifically, children with Fragile X Syndrome should be referred to a specialist neurodevelopmental or genetic clinic for detailed assessment and ongoing management. Referral to an autism team or neurodevelopmental multidisciplinary team is appropriate if features of autism or other neurodevelopmental disorders are present, as these teams have the expertise to conduct diagnostic assessments and coordinate interventions. The referral should include detailed clinical observations and reports from parents or carers to facilitate comprehensive evaluation.

Additionally, early involvement of educational and social care services is important to support developmental, behavioural, and educational needs. Local multi-agency strategy groups and lead professionals for neurodevelopmental pathways can facilitate coordinated care and smooth transitions to adult services.

In summary, the recommended referral pathway for children with Fragile X Syndrome involves initial referral to paediatric or neurodevelopmental specialists, followed by multidisciplinary assessment and management through specialist teams experienced in genetic and neurodevelopmental disorders, with integration of educational and social care support.

References: This approach is consistent with NICE guidance on autism spectrum disorder and neurodevelopmental conditions, which includes Fragile X Syndrome as a genetic disorder associated with increased prevalence of autism and intellectual disability, recommending multidisciplinary assessment and referral to specialist teams ².