Irish Centre for Autism and Neurodevelopmental Research, School of Psychology, National University of Ireland, Galway, Ireland.
eResearch Office, Queensland University of Technology, Brisbane, Queensland, Australia.
J Intellect Disabil Res. 2022 Nov;66(11):865-879. doi: 10.1111/jir.12975. Epub 2022 Sep 2.
Angelman syndrome (AS) is a neurogenetic disorder that causes severe intellectual disability, expressive language deficits, motor impairment, ataxia, sleep problems, epileptic seizures and a happy disposition. People with AS frequently experience gastrointestinal (GI) symptoms.
This study used data from the Global Angelman Syndrome Registry to explore the relationship between early and current GI symptoms and co-morbidity in children and adolescents with AS (n = 173). Two groups that experienced a high (n = 91) and a low (n = 82) frequency of GI symptoms were examined in relation to feeding and GI history in infancy, sleep and toileting problems, levels of language and communication and challenging behaviours. Predictors of GI symptoms were then investigated using a series of logistic regressions.
This analysis found that constipation and gastroesophageal reflux affected 84% and 64%, of the sample, respectively. The high frequency of GI symptoms were significantly associated with: 'refusal to nurse', 'vomiting', 'arching', 'difficulty gaining weight', gastroesophageal reflux, 'solid food transition', frequency of night-time urinary continence and sleep hyperhidrosis during infancy. GI symptoms were not significantly associated with sleep, toileting, language or challenging behaviours. Significant predictors of high frequency GI symptoms were gastroesophageal reflux and sleep hyperhidrosis.
Future research needs to investigate the association between AS and GI co-morbidity in adults with AS.
天使综合征（AS）是一种神经遗传疾病，可导致严重的智力残疾、表达性语言障碍、运动障碍、共济失调、睡眠问题、癫痫发作和快乐性格。AS 患者经常出现胃肠道（GI）症状。
本研究使用全球天使综合征登记处的数据，探讨了 173 名儿童和青少年 AS 患者（n=173）中早期和当前 GI 症状与合并症之间的关系。检查了经历高（n=91）和低（n=82）GI 症状频率的两组与婴儿期的喂养和 GI 史、睡眠和如厕问题、语言和沟通水平以及挑战性行为有关。然后使用一系列逻辑回归来研究 GI 症状的预测因素。
该分析发现，便秘和胃食管反流分别影响了 84%和 64%的样本。高频率的 GI 症状与“拒绝哺乳”、“呕吐”、“拱背”、“体重增加困难”、胃食管反流、“固体食物过渡”、夜间尿失禁频率和婴儿期睡眠多汗显著相关。GI 症状与睡眠、如厕、语言或挑战性行为无显著相关性。高频率 GI 症状的显著预测因素是胃食管反流和睡眠多汗。
未来的研究需要调查 AS 和成人 AS 中 GI 合并症之间的关联。
