Successive clinical application of vitamin D and bumetanide in children with autism spectrum disorder

Rationale: Autism spectrum disorder (ASD) is a common neurodevelopmental disorder caused by complex interactions between genetic and environmental factors. Recent studies suggest that Vitamin D 3 or bumetanide therapy may improve the core symptoms of ASD in some individuals. However, there are no guidelines that provide clinicians with evidence-based treatment regimens for the use of these therapies in ASD. Patient concerns: A 30-month-old female was referred to our department because she did not respond when her name was called. Diagnosis: The patient was diagnosed with ASD by a team of autism experts according to American Psychiatric Association Diagnostic and Statistical Manual of Mental Disorders (DSM-5) criteria. Interventions: The patient was administered Vitamin D 3 150,000 IU intramuscularly once a month and Vitamin D 3 800 IU orally each day. After 6 months, Vitamin D 3 supplementation was discontinued because of lack of effectiveness. Subsequently, oral bumetanide 0.5 mg twice daily was initiated. Outcomes: The patient's symptoms remained unchanged after 6 months of Vitamin D 3 supplementation, and her serum 25 (OH) D levels had reached 52.4 ng/mL. At the parent's request, Vitamin D 3 supplementation was discontinued because of lack of effectiveness. Thereafter, bumetanide was initiated. After 1 month of bumetanide, the patient's Childhood Autism Rating Scale score was 26, which is below the cutoff score for ASD. This case report suggests that Vitamin D 3 and bumetanide target different mechanisms in the pathogenesis of ASD. Lessons: Based on these observations, we discuss three possible scenarios for Vitamin D 3 supplementation and propose that bumetanide should be initiated if Vitamin D 3 supplementation is ineffective (identifier ChiCTR-CCC-13004498).