Lorenzo-Ruiz M, Novo-Ponte S, Iglesias-Escalera G, Cazorla-Calleja R, Lara-Herguedas J, López-Pájaro L F, Ruiz-Antorán B
Hospital Universitario Puerta de Hierro Majdahonda, Madrid, España.
Rev Neurol. 2023 Apr 1;76(7):217-226. doi: 10.33588/rn.7607.2022235.
Angelman syndrome (AS) is widely described in childhood, but few studies have been conducted in adulthood and most of them report a small number of patients or specific conditions, such as epilepsy or sleep.
The aim of this study is to describe AS in adulthood in our centre, the special needs it requires, and the medical and social support to improve care and to provide a better transition from the paediatric service to units for adults.
We collected patients with genetically confirmed AS, and described demographic, medical and social data by reviewing medical records, telephone interviews with the primary caregiver and three standardised sleep, dependency and quality of life scales.
Thirty patients with a median age of 22.7 years were included: 22 were deletions, 27 had a history of epilepsy and 13 were on treatment involving at least two antiepileptic drugs. The most frequent comorbidities after epilepsy were psychiatric symptoms, scoliosis, overweight, constipation and ophthalmological problems. Forty per cent required hospital admissions in adulthood, five were institutionalised and 24 received non-medical therapies. The doctor in charge was the neurologist in most cases, followed by the neuropaediatrician.
Studies that examine the natural history beyond childhood are warranted. This is the first Spanish review of adults with AS that covers a broad spectrum of social and medical conditions of these patients.
安吉尔曼综合征（AS）在儿童期已有广泛描述，但针对成人的研究较少，且大多数研究报告的患者数量较少或涉及特定情况，如癫痫或睡眠。
本研究旨在描述我们中心成年期的AS患者情况、其特殊需求以及所需的医疗和社会支持，以改善护理，并实现从儿科服务到成人科室的更好过渡。
我们收集了基因确诊为AS的患者，并通过查阅病历、与主要照顾者进行电话访谈以及使用三个标准化的睡眠、依赖程度和生活质量量表来描述人口统计学、医疗和社会数据。
纳入了30名患者，中位年龄为22.7岁：22例存在缺失，27例有癫痫病史，13例正在接受至少两种抗癫痫药物的治疗。癫痫之后最常见的合并症是精神症状、脊柱侧弯、超重、便秘和眼科问题。40%的患者成年后需要住院治疗，5例被收容机构照料，24例接受了非药物治疗。大多数情况下，主治医生是神经科医生,其次是神经儿科医生。
有必要开展超越儿童期的自然病史研究。这是首次对成年AS患者进行的西班牙综述，涵盖了这些患者广泛的社会和医疗状况。
