ダウン症候群における社会性に関連する能力の退行様症状に対し塩酸ドネペジルが著効したダウン症候群の14歳女児例

抄録

Down syndrome is characterized by the regression of social and communication skills that leads to poor quality of life at about 20 years of age. Specifically, the regression includes slowness, poor expression, reduced conversation, loss of interest, stubbornness, excitement, sleep disorder, loss of appetite, and weight loss. Eventually, there is a decrease in the daily living capacity, enough to necessitate full assistance. However, the recognition of these regression symptoms remains poor. It seems that the regression symptoms are sometimes misdiagnosed as "depression", "mood disorder", "initial symptoms of Alzheimer's disease", and so on. Clinical trials to test the efficacy of treatment with donepezil hydrochloride are underway since August 2013.

In this study, donepezil hydrochloride was administered to a 14-year-old girl diagnosed with having regression symptoms based on diagnostic guidance. Previous treatment with antidepressants did not cause any improvement, and her symptoms worsened until the diagnosis was made. However, donepezil hydrochloride therapy led to a remarkable improvement, enabling the child to become independent and capable of performing daily activities. We hope that diagnostic guidance for the regression of social and communication skills in Down syndrome will become widespread in the future and that more cases will be treated properly.