Department of Psychiatry, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Sawangi Meghe, Wardha, Maharashtra, India.
Corresponding Author: Parul Gupta, MD, Department of Psychiatry, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Sawangi Meghe, Wardha, Maharashtra, India 442107 (
Prim Care Companion CNS Disord. 2024 Jan 4;26(1):22nr03481. doi: 10.4088/PCC.22nr03481.
Tuberous sclerosis is an autosomal dominant genetic disorder that affects multiple organ systems and causes a wide range of physical manifestations. It commonly involves the brain, skin, heart, eyes, kidneys, and lungs. Individuals mostly present with neuropsychiatric symptoms, comprising a noteworthy source of morbidity and mortality. : Ninety percent of individuals with tuberous sclerosis have associated neuropsychiatric manifestations including attention-deficit/hyperactivity disorder, autism spectrum disorder, and intellectual disability, which are typically underidentified and undertreated. : Lack of specific guidelines for management add to the significant burden of care. An individualized, multifaceted perspective, with particular focus on cognitive and psychosocial comorbidities, is key for managing tuberous sclerosis. .
结节性硬化症是一种常染色体显性遗传疾病,影响多个器官系统,导致广泛的身体表现。它通常涉及大脑、皮肤、心脏、眼睛、肾脏和肺部。患者主要表现为神经精神症状,这是发病率和死亡率的一个重要来源。:90%的结节性硬化症患者存在相关的神经精神表现,包括注意力缺陷/多动障碍、自闭症谱系障碍和智力残疾,这些表现通常未被充分识别和治疗。:缺乏管理的具体指南增加了护理的巨大负担。个体化、多方面的视角,特别关注认知和社会心理共病,是管理结节性硬化症的关键。