关键词: Chewing Constipation Gastroesophageal reflux Phelan-McDermid SHANK3 Vomiting Zinc

Mesh : Humans Deglutition Mastication Consensus Chromosome Disorders / genetics Chromosome Deletion Gastrointestinal Diseases / epidemiology Malnutrition Chromosomes, Human, Pair 22

来  源:   DOI:10.1016/j.ejmg.2023.104763

Abstract:
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.
摘要:
胃肠道(GI)问题在Phelan-McDermid综合征(PMS)中很常见。咀嚼和吞咽困难,牙齿问题,反流病,周期性呕吐,便秘,失禁,腹泻,营养缺乏是最常见的报道。因此,这篇综述总结了当前关于地理标志问题的发现,并解决了基本问题,基于父母的调查,关于经前综合症中胃肠道问题的发生频率,发生了什么胃肠道问题,什么后果(例如,营养缺乏)患有经前综合症的人的胃肠道问题,以及如何治疗PMS患者的胃肠道问题。我们的发现表明,胃肠道问题对PMS患者的健康有不利影响,并且对他们的家庭造成重大负担。因此,我们建议对这些问题进行评估,并制定护理建议。
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