Kennedy Krieger Institute, Baltimore, Maryland; Johns Hopkins University School of Medicine, Baltimore, Maryland.
Kennedy Krieger Institute, Baltimore, Maryland; Johns Hopkins University School of Medicine, Baltimore, Maryland.
J Am Acad Child Adolesc Psychiatry. 2024 Dec;63(12):1193-1195. doi: 10.1016/j.jaac.2024.02.001. Epub 2024 Feb 8.
Pediatric neurodegenerative disorders (PNDs), such as juvenile neuronal ceroid lipofuscinosis (CLN3 disease, also called Batten disease) and juvenile Huntington disease, are devastating conditions that result in progressive neurological dysfunction and profound medical comorbidities leading to early mortality in children and young adults. There are more than 70 PNDs, with a combined estimated prevalence of ∼0.1 in 1,000 live births. Individuals with PNDs commonly experience complex neuropsychiatric manifestations such as neurocognitive symptoms (dementia), irritability, aggression and self-injury, mood disorders, sensory alterations, and psychosis. Symptoms are dynamic, changing with illness progression, and evolve over time. Effects on patients and families can be devastating, and caregiver burden is enormous. We are a group of colleagues with backgrounds in pediatric neuropsychiatry, pediatric neuropalliative care, and pediatric neurology who care for patients together in specialized clinics.
儿科神经退行性疾病（PNDs），如少年神经元蜡样脂褐质沉积症（CLN3 病，也称为巴滕病）和少年亨廷顿病，是一种破坏性疾病，导致进行性神经功能障碍和严重的合并症，导致儿童和青年早期死亡。有超过 70 种 PND，估计每 1000 例活产儿中就有 0.1 例。PND 患者通常会出现复杂的神经精神表现，如神经认知症状（痴呆）、易怒、攻击性和自残、情绪障碍、感觉改变和精神病。症状是动态的，随着疾病的进展而变化，并随着时间的推移而演变。对患者和家庭的影响可能是毁灭性的，照顾者的负担也非常大。我们是一群同事，背景包括儿科神经精神病学、儿科神经姑息治疗和儿科神经病学，我们在专门的诊所一起照顾患者。
