Management

We recommend early multidisciplinary input from the following health professionals:

•    Physiotherapy: management of hypotonia, observation for kyphosis, scoliosis, torticollis, spasticity and dystonia
•    Speech and language therapy: Encourage language development.
•    Paediatrics: developmental assessments, observation for insulin resistance/acanthosis, weight gain or weight loss, hirsutism (dermatology referral may be needed), seizures and other neurological complications, consider screening for immunodeficiency (including lymphocyte subsets and vaccine antibody titres).
•    Ophthalmology: observation for strabismus and cataracts.
•    Clinical genetics: genetic counselling.