Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
J Pediatr Gastroenterol Nutr. 2012 Sep;55(3):292-8. doi: 10.1097/MPG.0b013e31824b6159.
We conducted a nationwide survey to determine the prevalence of common gastrointestinal and nutritional disorders in Rett syndrome (RTT) based on parental reporting and related the occurrence of these problems to age and methyl-CpG-binding protein 2 (MECP2) gene status.
We designed a questionnaire that probed symptoms, diagnoses, diagnostic tests, and treatment interventions related to gastrointestinal and nutritional problems in RTT. The International Rett Syndrome Foundation distributed the questionnaire to 1666 family-based members and forwarded their responses for our review. We interrogated the Rare Disease Clinical Research Network database to supplement findings related to medications used to treat gastrointestinal problems in RTT.
Parents of 983 female patients with RTT (59%) responded and identified symptoms and diagnoses associated with gastrointestinal dysmotility (92%), chewing and swallowing difficulties (81%), weight deficits or excess (47%), growth deficits (45%), low bone mineral content or fractures (37%), and biliary tract disorders (3%). Height-for-age, weight-for-age, and body mass index z scores decreased significantly with age; height- and weight-, but not body mass index-for-age z scores were significantly lower in female subjects with MECP2 mutations than in those without. Vomiting, nighttime awakening, gastroesophageal reflux, chewing difficulty, and choking with feeding were significantly less likely to occur with increasing age. Short stature, low bone mineral content, fractures, and gastrostomy placement were significantly more likely to occur with increasing age. Chewing difficulty, choking with feeding, and nighttime awakening were significantly less likely to occur, whereas short stature was significantly more likely to occur, in female subjects with MECP2 mutations than in those without. Diagnostic evaluations and therapeutic interventions were used less frequently than the occurrence of symptoms or diagnoses in the RTT cohort.
Gastrointestinal and nutritional problems perceived by parents are prevalent throughout life in girls and women with RTT and may pose a substantial medical burden for their caregivers. Physician awareness of these features of RTT may improve the health and quality of life of individuals affected with this disorder.
我们进行了一项全国性调查，根据家长报告，确定雷特综合征（RTT）中常见胃肠道和营养障碍的患病率，并将这些问题的发生与年龄和甲基化 CpG 结合蛋白 2（MECP2）基因状态相关联。
我们设计了一份调查问卷，探究与 RTT 胃肠道和营养问题相关的症状、诊断、诊断测试和治疗干预。国际雷特综合征基金会（International Rett Syndrome Foundation）向 1666 名基于家庭的成员分发了问卷，并将他们的回复转发给我们审查。我们查询了罕见疾病临床研究网络（Rare Disease Clinical Research Network）数据库，以补充与用于治疗 RTT 胃肠道问题的药物相关的发现。
983 名女性 RTT 患者的家长（59%）做出了回应，并确定了与胃肠道动力障碍（92%）、咀嚼和吞咽困难（81%）、体重不足或超重（47%）、生长不足（45%）、低骨矿物质含量或骨折（37%）和胆道疾病（3%）相关的症状和诊断。身高年龄、体重年龄和体重指数 z 评分随年龄显著下降；与无 MECP2 突变的女性相比，MECP2 突变的女性身高和体重年龄 z 评分显著降低，但体重指数年龄 z 评分无显著差异。随着年龄的增长，呕吐、夜间觉醒、胃食管反流、咀嚼困难和喂养时窒息的发生几率显著降低。随着年龄的增长，身材矮小、低骨矿物质含量、骨折和胃造口术的发生率显著增加。与无 MECP2 突变的女性相比，咀嚼困难、喂养时窒息和夜间觉醒的发生几率显著降低，而身材矮小的发生几率显著增加。在 RTT 队列中，诊断评估和治疗干预的使用频率低于症状或诊断的发生频率。
家长感知到的胃肠道和营养问题在 RTT 女孩和女性中终生普遍存在，可能对其照顾者造成重大医疗负担。医生对这些 RTT 特征的认识可能会提高受这种疾病影响的个体的健康和生活质量。
