Because of the small number of reported individuals, there are currently no specific consensus management and surveillance guidelines for individuals with Intellectual Developmental Disorders caused by mutations in SMARCB1.
Symptomatic treatment should be based on the occurrence of clinical manifestations, and anticipatory guidance on the most common features reported to date.s
- Assessment by Clinical Genetics.
- Neurodevelopmental assessment.
- Referral for physical, occupational and speech therapies as indicated.
- Hearing assessment.
- Ophthalmologic evaluation.
- Referral to Neurology for symptomatic management of neurologic involvement/seizures. Given that seizures are a common occurrence, any suspicious signs or symptoms should prompt a referral for appropriate management.
- Because feeding difficulties can be severe and life threatening. A referral to paediatric gastroenterology and/or surgery may be indicated. Symptomatic management to enhance nutritional intake and hydration and to address gastroesophageal reflux when present should be put in place. Severe feeding problems may require gastroenteric tube feeding such as nasogastric tube, gastrostomy or gastrojejunostomy.
- Clinical screening for genitourinary and cardiac abnormalities.
- Genetic counselling should be made available to relevant family members.