目的:评估医护人员在神经代谢紊乱管理方面的知识和经验。
方法:在三级护理教学医院儿科开展的持续医学教育计划的132名参与者中进行了一项横断面研究。在参与者中分发了一份基于问卷的反馈表,并对他们的反应进行了分析。
结果:分析了93个反应。最常见的儿科疾病是感染(91%),营养(91%),出生相关伤害(44.4%)和代谢紊乱(44.4%)。血缘关系(81.5%)和遗传异质性(42.4%)被认为是神经代谢紊乱的最重要原因。确定预防的重要步骤是产前检查(65.6%)和出生时新生儿筛查(61%);而改善诊断的是常规代谢检查(65.3%)和出生时筛查(46.6%)。大多数受访者(58.7%)表示,由于缺乏知识(46.8%)和诊断设施(44.6%),在处理遗传性代谢缺陷病例时感到不适。尽管大多数人都能接受测试,生化和基因调查的检测费用很高。大多数参与者(73%)认为某些遗传性代谢紊乱是可以治疗的。膳食替代(89.3%),酶替代(69%),辅因子替代(53.6%),基因治疗(35.7%)和定期透析(16.7%)被认为是治疗选择.
结论:尽管人们对遗传代谢紊乱的认识不断提高,医护人员的知识仍然存在差距。诊断和管理这些疾病具有挑战性。诊断测试的成本降低,常规新生儿筛查和增加教育活动是需要解决的主要挑战.
To evaluate the knowledge and experiences of healthcare workers in the management of
neurometabolic disorders.
A cross-sectional
study was carried out among the 132 participants of a continued medical education program conducted in the Department of Pediatrics at a tertiary-care teaching hospital. A questionnaire-based feedback form was circulated among the participants, and their responses were analyzed.
Ninety-three responses were analyzed. The most common pediatric illnesses identified were infections (91%), nutritional (91%), birth-related injuries (44.4%) and metabolic disorders (44.4%). Consanguinity (81.5%) and genetic heterogeneity (42.4%) were recognized as most important causes of
neurometabolic disorders. Important steps identified for prevention were prenatal testing (65.6%) and newborn screening at birth (61%); while for improving the diagnosis were routine availability of metabolic investigations (65.3%) and screening at birth (46.6%). Most respondents (58.7%) expressed discomfort in managing a case with inherited metabolic defect due to a lack of knowledge (46.8%) and diagnostic facilities (44.6%). Despite access to testing in the majority, a high cost of testing was noticed for biochemical and genetic investigations. The majority of participants (73%) considered some of the inherited metabolic disorders as treatable. Dietary substitution (89.3%), enzyme replacement (69%), cofactor replacement (53.6%), gene therapy (35.7%) and regular dialysis (16.7%) were considered the treatment options.
In spite of growing awareness of inherited metabolic disorders, there are still gaps in knowledge among healthcare workers. It is challenging to diagnose and manage these disorders. Cost-reduction of diagnostic tests, routine newborn screening and increased educational activities are key challenges to be addressed.