Management options include:
- The majority of affected individuals receive mainstream education with additional learning support. A multidisciplinary approach led by a community paediatrician is paramount with careful assessment of speech and language, motor skills and cognition, with particular focus on speech impairments. Input from psychology services may be helpful for strategies to manage challenging behaviours.
- Assessment of growth is also vital with close monitoring of growth parameters. In addition, measurement of thyroid hormones, pubertal monitoring and referral to an endocrinologist for consideration of growth hormone therapy is useful.
- Individuals are often poor feeders in infancy and may suffer from gastro-oesophageal reflux and/or constipation that may require medical treatment. Investigation for coeliac disease should be done if an individual is symptomatic as this condition may occur more frequently.
- Regular assessment of blood pressure and renal ultrasounds to check for the presence of renal cysts, hydronephrosis or agenesis that are sometimes associated with the condition are advised. We are considering if further surveillance to include cerebral vascular screening is indicated.
- Full clinical examination including examination of the genitalia (genitourinary condition such as undescended testes can be a feature), heart (rarely cardiac defects have been associated) and musculo-skeletal system (hip dysplasia and clavicular abnormalities can occur).
- Ophthalmology assessment for presence of strabismus and other minor vision abnormalities which may require monitoring and treatment
- Hearing assessment – it is important to ensure hearing is optimised to aid with speech. Conditions such as glue ear can further affect speech development.
- Regular dental assessment – problems such as overcrowding can be present.
- EEG if seizures are suspected – these can occur more frequently in the condition than in the general population.
- Genetics clinic review to consider diagnosis and differential, recurrence risks and for other family members as required.
Suggested regular surveillance:
- Long term follow up from a community paediatrician, speech and language therapy, and physiotherapy/occupational therapy if required.
- Annual blood pressure checks and treatment of hypertension.
- Renal ultrasound at diagnosis and an additional ultrasound in early adulthood to check for renal cysts.
- Regular eyesight, hearing and dental checks.
- Regular monitoring of growth parameters and endocrine follow up as required.