Cherchi Claudio, Chiappini Elena, Chiarini Testa Maria Beatrice, Banfi Paolo, Veneselli Edvige, Cutrera Renato
Pediatric Pulmonology and Cystic Fibrosis Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Department of Health Science, University of Florence, 50121 Florence, Italy.
Children (Basel). 2023 Oct 21;10(10):1713. doi: 10.3390/children10101713.
The purpose of this study is to better understand the way caregivers of patients with Rett syndrome perceive the quality of the health care services they receive and identify its main shortcomings.
A survey was distributed to all caregivers who are part of AIRETT (the Italian Association of Relatives of Patients with RS). The survey gathered information on the management of relatives of patients with Rett syndrome.
The data refers to 52 patients, all females, with a median age of 15 years at the time of the survey. Concerning RS specificity, our data confirm the high complexity of this chronic, multifaceted condition, mainly characterized by the presence of epilepsy, apnea, severe scoliosis, and gastrointestinal symptoms. The specialists more frequently involved in the care of patients were general practitioners or family pediatricians (98%) and neurologists (92%), and more rarely physiatrists (71%). Only 15% of patients were followed by a pulmonologist, despite the fact that respiratory problems were frequent (apneas were present in 81% of patients, and 2% had a tracheostomy). Although 63.5% of patients presented with gastrointestinal symptoms and 2% had a gastrostomy, only 33% were followed by a gastroenterologist. Moreover, although orthopedic issues were present in 78.8% of patients, including severe scoliosis in 22% of them, only 25% were followed by an orthopedist. Furthermore, despite the fact that RS patients are fragile, about one quarter of them were not vaccinated. As far as organizational issues are concerned, several specialized centers are located in various regions throughout the country. As a consequence, the high mobility rate from one center to another resulted in non-homogeneous assistance.
The study shows that caregivers of RS patients take over most obligations and burdens by increasing their perceived level of stress. For the majority of patients, the most frequent complications were not followed by the reference subspecialist, with the only exception of epilepsy. Moreover, improving vaccination strategies for these patients is necessary.
本研究的目的是更好地了解雷特综合征患者的照料者对他们所接受的医疗服务质量的认知方式，并确定其主要不足之处。
向意大利雷特综合征患者亲属协会（AIRETT）的所有照料者发放了一份调查问卷。该调查收集了有关雷特综合征患者亲属管理的信息。
数据涉及52名患者，均为女性，调查时的中位年龄为15岁。关于雷特综合征的特异性，我们的数据证实了这种慢性、多方面疾病的高度复杂性，其主要特征是存在癫痫、呼吸暂停、严重脊柱侧弯和胃肠道症状。参与患者护理的专科医生中，全科医生或家庭儿科医生最为常见（98%），其次是神经科医生（92%），而物理治疗师较少（71%）。尽管呼吸问题很常见（81%的患者有呼吸暂停，2%的患者进行了气管造口术），但只有15%的患者由肺科医生随访。虽然63.5%的患者有胃肠道症状，2%的患者进行了胃造口术，但只有33%的患者由胃肠病学家随访。此外，尽管78.8%的患者存在骨科问题，其中22%的患者有严重脊柱侧弯，但只有25%的患者由骨科医生随访。此外，尽管雷特综合征患者体质虚弱，但约四分之一的患者未接种疫苗。就组织问题而言，几个专业中心分布在全国不同地区。因此，患者从一个中心到另一个中心的高流动率导致了援助的不均衡。
该研究表明，雷特综合征患者的照料者承担了大部分义务和负担，从而增加了他们的压力感知水平。对于大多数患者来说，除了癫痫外，最常见的并发症并没有得到相关专科医生的随访。此外，有必要改进这些患者的疫苗接种策略。
