Patient-Centred Outcomes Research, Acaster Lloyd Consulting Ltd, London, UK.
Global Medical Affairs, PTC Therapeutics Germany GmbH, Frankfurt am Main, Germany.
Curr Med Res Opin. 2021 Aug;37(8):1353-1361. doi: 10.1080/03007995.2021.1932449. Epub 2021 Jun 7.
Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare neurological condition, with an estimated global prevalence of 1:32,000 to 1:90,000 live births. AADC deficiency is associated with a range of symptoms and functional impairments, but these have not previously been explored qualitatively. This study aimed to understand the symptoms of AADC deficiency and its impact on individuals' health-related quality of life.
Qualitative interviews were conducted with caregivers of individuals with AADC deficiency in Italy, Spain, Portugal and the United States. An interview guide was developed with input from clinical experts and caregivers, and explored the symptoms and impacts of AADC deficiency. Interviews were conducted by telephone and were recorded and transcribed. Data were analysed using thematic analysis and saturation was recorded.
Fourteen caregivers took part, who provided care to 13 individuals with AADC deficiency aged 1-15 years. All individuals had impaired motor function, which was attributed to low muscle tone and muscle weakness. The level of motor function varied considerably, ranging from no motor function (no head control) to being able to take a few steps without support. Other impairments included cognitive impairment, communication difficulties, movement disorders (e.g. oculogyric crises), gastrointestinal symptoms, eating difficulties, fatigue and sleep disruption. Most individuals were completely dependent on their caregivers for all aspects of their lives. This limited function had a negative impact on their ability to socialise with their peers and on their emotional wellbeing. These concepts and relationships are illustrated in a conceptual model, and moderating factors (e.g. physiotherapy and medication) are discussed.
This is the first qualitative study to report on the experience of living with AADC deficiency. Caregivers report individuals with AADC deficiency experience a wide range of symptoms and functional impairments, which have a substantial impact on their health-related quality of life.
芳香族 l-氨基酸脱羧酶（AADC）缺乏症是一种罕见的神经疾病，估计全球每 32000 至 90000 例活产中就有 1 例。AADC 缺乏症与一系列症状和功能障碍有关，但这些症状和障碍以前没有经过定性研究。本研究旨在了解 AADC 缺乏症的症状及其对个体健康相关生活质量的影响。
对意大利、西班牙、葡萄牙和美国的 AADC 缺乏症患者的照顾者进行了定性访谈。访谈指南由临床专家和照顾者共同制定，探讨了 AADC 缺乏症的症状和影响。访谈通过电话进行，并进行了记录和转录。采用主题分析对数据进行分析，并记录了饱和度。
共有 14 名照顾者参与，他们照顾了 13 名年龄为 1-15 岁的 AADC 缺乏症患者。所有患者的运动功能均受损，这归因于低肌肉张力和肌肉无力。运动功能的水平差异很大，从没有运动功能（没有头部控制）到能够在没有支撑的情况下走几步。其他障碍包括认知障碍、沟通困难、运动障碍（如眼球震颤）、胃肠道症状、进食困难、疲劳和睡眠中断。大多数患者在生活的各个方面都完全依赖于照顾者。这种有限的功能对他们与同龄人社交的能力和他们的情感健康产生了负面影响。这些概念和关系在一个概念模型中得到了说明，并讨论了调节因素（如物理治疗和药物治疗）。
这是第一项报告 AADC 缺乏症患者生活体验的定性研究。照顾者报告说，AADC 缺乏症患者经历了广泛的症状和功能障碍，这些症状和障碍对他们的健康相关生活质量产生了重大影响。
