Management of a person with fragile X syndrome

Although most males and some females with fragile X syndrome (FXS) require lifelong care and support, many achieve functional life skills.

Children with fragile X syndrome should be referred for early childhood intervention.

For the management of specific health concerns in people with fragile X syndrome, see Common health problems associated with fragile X syndrome. Care plan summary for a person with fragile X syndrome describes a care plan summary for a person with fragile X syndrome.

Figure 1. Care plan summary for a person with fragile X syndrome

genetic counselling of the person with fragile X syndrome, genetic testing of relevant family members; grief and supportive counselling for family (eg from a psychologist)

hearing assessment with an audiologist

vision assessment with an optometrist or ophthalmologist

assessment for orthotics with a podiatrist

consider diagnosis of coexisting psychiatric disorder (eg anxiety disorder) and a trial of appropriate medications

behavioural assessment with a psychologist (including anxiety, IQ, ADHD and autism spectrum disorder); consider behaviour management strategies

educational assessment with a psychologist; advice for school staff

speech and language assessment with a speech pathologist to optimise communication support and dysphagia management (if needed)

assessment of workplace, day program, sensory issues with an occupational therapist

consider referral to a developmental paediatrician, neurologist or psychiatrist with intellectual disability expertise

connect with Centrelink for help with funding, home support, NDIS application or review

provide information on support organisations (eg Fragile X Association of Australia)

multidisciplinary assessment at a Fragile X Association Clinic

Note: ADHD = attention deficit hyperactivity disorder; IQ = intelligence quotient; NDIS = National Disability Insurance Scheme

Adapted with permission from the Fragile X Alliance Inc. Melbourne.

For advice on the care of a person with developmental disability at various life stages, see children, adolescents, adults or people who are ageing.