Phenotypic variability and gastrointestinal manifestations/interventions for growth in NAA10-related neurodevelopmental syndrome.
Phenotypic variability and gastrointestinal manifestations/interventions for growth in NAA10-related neurodevelopmental syndrome.
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NAA10 相关神经发育综合征的表型变异和胃肠道表现/生长干预措施。
DOI：
10.1002/ajmg.a.63152
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发表时间：
2023
期刊：
影响因子：
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通讯作者：
Lyon,GholsonJ
中科院分区：
文献类型：
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作者：
Sandomirsky,Katherine;Marchi,Elaine;Gavin,Maureen;Amble,Karen;Lyon,GholsonJ
我们对61名患有naa10相关神经发育综合征（一种由tonaa10基因变异引起的X相关疾病）的儿童进行的研究表明，生长衰竭的患病率很高，体重和身高的百分位数通常在发育不全的诊断范围内；然而，在这个群体的生长参数中证明了剧烈的体重波动和表型变异。虽然以前从未深入研究过，但与naa10相关的神经发育综合征相关的胃肠道病理包括婴儿期喂养困难、吞咽困难、GERD/无症状反流、呕吐、便秘、腹泻、肠失禁以及食管内镜检查中嗜酸性粒细胞的存在，其发生率从高到低依次排列。此外，患有该综合征的儿童的胃肠道症状已经扩大到包括嗜酸性粒细胞性食管炎、周期性呕吐综合征、Mallory Weiss撕裂、腹部偏头痛、食管扩张和声门下狭窄。虽然naa10相关神经发育综合征先证者生长不良的确切原因尚不清楚，胃肠道症状学对该问题的贡献程度仍不确定，但一项包括9个G管或GJ管喂养先证者的分析表明，G/GJ管在改善体重增加和护理方面总体有效。选择插入胃造口术或胃空肠管来帮助体重增加对父母来说通常是一个具有挑战性的决定，他们可能会选择依赖口服喂养，补充热量，卡路里跟踪和喂养治疗。在这种情况下，尽管做出了这样的努力，但在1岁以上的ifNAA10相关神经发育综合征儿童没有超过发育失败（FTT）范围，应咨询治疗医生是否可能进行G -管放置，以避免长时间的生长失败。如果G -管在插入后没有立即引起体重增加，建议包括改变配方，增加热量输入，或通过微创手术将G -管换成GJ -管。
Our study of 61 children withNAA10‐related neurodevelopmental syndrome, an X‐linked disorder due toNAA10gene variants, demonstrated a high prevalence of growth failure, with weight and height percentiles often in the failure‐to‐thrive diagnostic range; however, dramatic weight fluctuations and phenotypic variability is evidenced in the growth parameters of this population. Although never previously explored in depth, the gastrointestinal pathology associated withNAA10‐related neurodevelopmental syndrome includes feeding difficulties in infancy, dysphagia, GERD/silent reflux, vomiting, constipation, diarrhea, bowel incontinence, and presence of eosinophils on esophageal endoscopy, in order from most to least prevalent. Additionally, the gastrointestinal symptom profile for children with this syndrome has been expanded to include eosinophilic esophagitis, cyclic vomiting syndrome, Mallory Weiss tears, abdominal migraine, esophageal dilation, and subglottic stenosis. Although the exact cause of poor growth inNAA10‐related neurodevelopmental syndrome probands is unclear and the degree of contribution to this problem by GI symptomatology remains uncertain, an analysis including nine G‐tube or GJ‐tube fed probands demonstrates that G/GJ‐tubes are overall efficacious with respect to improvements in weight gain and caregiving. The choice to insert a gastrostomy or gastrojejunal tube to aid with weight gain is often a challenging decision to make for parents, who may alternatively choose to rely on oral feeding, caloric supplementation, calorie tracking, and feeding therapy. In this case, ifNAA10‐related neurodevelopmental syndrome children are not tracking above the failure to thrive (FTT) range past 1 year of age despite such efforts, the treating physicians should be consulted regarding possibly undergoing G‐tube placement to avoid prolonged growth failure. If G‐tubes are not immediately inducing weight gain after insertion, recommendations could include altering formula, increasing caloric input, or exchanging a G‐tube for a GJ‐tube by means of a minimally invasive procedure.