Consensus recommendations on chewing,swallowing and gastrointestinal problems in Phelan-McDermid syndrome

Gastrointestinal (GI) problems are common in Phelan-McDermid syndrome (PMS). Chewing and swallowing difficulties, dental problems, reflux disease, cyclic vomiting, constipation, incontinence, diarrhoea, and nutritional deficiencies have been most frequently reported. Therefore, this review summarises current findings on GI problems and addresses the fundamental questions, which were based on parental surveys, of how frequent GI problems occur in PMS, what GI problems occur, what consequences (e.g., nutritional deficiencies) GI problems cause for individuals with PMS, and how GI problems can be treated in individuals with PMS. Our findings show that gastrointestinal problems have a detrimental effect on the health of people with PMS and are a significant burden for their families. Therefore, we advise evaluation for these problems and formulate care recommendations.     

加巴喷丁治疗小脑梗死后慢性呕吐 1例及文献回顾

目的 探讨加巴喷丁在治疗慢性恶心呕吐中的作用.方法 对1例自2019年5—12月以头晕、恶心、呕吐为首发症状的小脑梗死病人的病程、临床表现、辅助检查及治疗经过进行分析.本研究经病人及其近亲属知情同意,符合《世界医学协会赫尔辛基宣言》相关要求.结果 以头晕、恶心、呕吐为首发症状的小脑梗死,可无神经系统定位体征,易误诊、漏诊.且小脑梗死后头晕、恶心、呕吐症状,甲氧氯普胺、莫沙必利、维生素B6等传统止吐治疗,疗效欠佳,神经调节剂加巴喷丁虽有嗜睡的副作用,但止吐效果明显.结论 在传统的止吐剂和胃肠动力药疗效欠佳时,可以尝试使用神经调节剂加巴喷丁治疗慢性恶心呕吐.