Biotin and Acetazolamide for Treatment of an Unusual Child With Autism Plus Lack of Nail and Hair Growth

In a 2018 study, a 10-year-old girl with autism spectrum disorder (ASD) and developmental delay, who had very little hair and nail growth, was treated with biotin and acetazolamide. The treatment with biotin resulted in significant improvement in nail and hair growth, intellectual ability, and school performance. Additionally, acetazolamide treatment alleviated her headaches and limb shaking, which contributed to enhanced school performance and social skills. Despite the discovery of a de novo pathogenic variant in the ATP1A2 gene through whole exome sequencing, no genetic cause was identified in biotin-responsive metabolic pathways. The study concluded that the combined treatment was effective in improving mental function and school performance, indicating that poor nail and hair growth in children with developmental delay-ASD might be a sign of a biotin-responsive genetic disorder, even in the absence of positive genetic testing results.