Prasad Ankita, Grocott Olivia, Parkin Kimberly, Larson Anna, Thibert Ronald L
Angelman Syndrome Clinic, Massachusetts General Hospital, Boston, Massachusetts.
Am J Med Genet A. 2018 Jun;176(6):1327-1334. doi: 10.1002/ajmg.a.38694. Epub 2018 Apr 25.
Angelman syndrome is a neurogenetic disorder with varying clinical presentations and symptoms as the individual ages. The goal of this study was to characterize changes over time in the natural history of this syndrome in a large population. We reviewed the medical records of the 53 patients who were born prior to 2000 and seen at the Angelman Syndrome Clinic at Massachusetts General Hospital to assess neurological, sleep, behavioral, gastrointestinal, orthopedic, and ophthalmologic functioning. The average age of this cohort was 24 years. Active seizures were present in 35%, nonepileptic myoclonus in 42%, and clinically significant tremors in 55%. Anxiety was present in 57%, increasing to 71% in those ages 26-43 years. In terms of sleep, 56% reported 8 hr of sleep or more, although 43% reported frequent nocturnal awakenings. Gastrointestinal issues remain problematic with 81% having constipation and 53% gastroesophageal reflux. The majority lived in a parent's home and remained independently mobile, though scoliosis was reportedly present in 30%, and 20% had reported low bone density/osteoporosis. The results of this study suggest that the prevalence of active seizures may decrease in adulthood but that the prevalence of movement disorders such as tremor and nonepileptic myoclonus may increase. Anxiety increases significantly as individuals age while defiant behaviors appear to decrease. Sleep dysfunction typically improves as compared to childhood but remains a significant issue for many adults. Other areas that require monitoring into adulthood include gastrointestinal dysfunction, and orthopedic/mobility issues, such as reported scoliosis and bone density, and ophthalmologic disorders.
天使综合征是一种神经遗传性疾病，其临床表现和症状会随着个体年龄的增长而有所不同。本研究的目的是在一大群患者中描述该综合征自然病史随时间的变化情况。我们回顾了2000年之前出生且在麻省总医院天使综合征诊所就诊的53例患者的病历，以评估其神经、睡眠、行为、胃肠、骨科和眼科功能。该队列的平均年龄为24岁。35%的患者有活动性癫痫发作，42%有非癫痫性肌阵挛，55%有具有临床意义的震颤。57%的患者有焦虑症，在26 - 43岁的患者中这一比例增至71%。在睡眠方面，56%的患者报告睡眠时间为8小时或更长，尽管43%的患者报告夜间频繁醒来。胃肠问题仍然很突出，81%的患者有便秘，53%的患者有胃食管反流。大多数患者住在父母家中，能够独立活动，不过据报告30%的患者有脊柱侧弯，20%的患者报告有低骨密度/骨质疏松症。本研究结果表明，成年期活动性癫痫发作的患病率可能会降低，但震颤和非癫痫性肌阵挛等运动障碍的患病率可能会增加。随着个体年龄增长，焦虑症显著增加，而挑衅行为似乎会减少。与儿童期相比，睡眠功能障碍通常有所改善，但对许多成年人来说仍然是一个重要问题。成年期需要监测的其他方面包括胃肠功能障碍、骨科/活动问题，如报告的脊柱侧弯和骨密度，以及眼科疾病。
