Symptomatic treatment is the mainstay of therapy. For gastroesophageal reflux, surgery may be considered; however, since the underlying pathology may differ from that observed in general cases of severe physical and mental disabilities, a thorough evaluation at a specialised hospital with experience in such cases is necessary to determine the appropriateness of surgery. In cases of dysphagia or poor nutritional status, nutritional support via enteral feeding or a gastrostomy may be considered. For epilepsy, antiepileptic drugs are administered.
Although still at the research stage, 5-aminolevulinic acid (5-ALA) is showing promise as a symptom-improving agent.
Prognosis: If there are no major complications, the prognosis is considered favourable. Management of gastrointestinal complications (gastroesophageal reflux, ileus, vomiting or constipation, aerophagia, etc.) and nutritional status is important.
Considerations for adulthood: There are no detailed data available for adulthood. Management of gastrointestinal issues and nutrition is important. Cases of sudden deterioration due to ileus triggered by infection or renal failure have been reported. Additionally, congenital heart defects present from childhood require regular follow-up examinations even if asymptomatic, continuing into adulthood.
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