Measurement of Motor Function in Children With Canavan Disease: Concordance Between Remote and In-Person Assessments [0.03%]
Canavan病儿童的运动功能测定：远程评估与现场评估的一致性分析
Elise L Townsend,Michael Kiefer,Beth Leiro et al.
Elise L Townsend et al.
Background: The increasing use of decentralized and hybrid clinical trials generates a critical need for validation of remote virtual assessments in pediatric rare diseases. This study evaluates the concordance between st...
Pediatric Spinal Muscular Atrophy Patients Treated With Nusinersen: Experience From a Tertiary Referral Center in Turkey [0.03%]
土耳其三级转诊中心接受伊内辛ersen治疗的儿童脊髓性肌萎缩症患者经验报告
Sibel Öz Yıldız,Numan Bulut,İpek Alemdaroğlu-Gürbüz et al.
Sibel Öz Yıldız et al.
Background: To evaluate long-term outcomes (motor function, ventilation, nutrition, scoliosis, neurophysiological assessments) of pediatric spinal muscular atrophy (SMA) patients treated with nusinersen. ...
Deciphering the Breathless Future: A Novel Approach to Predicting Respiratory Failure in Children With Guillain-Barré Syndrome [0.03%]
破解喘息的未来：预测吉兰-巴雷综合征儿童呼吸衰竭的新方法
Zhiwei Yu,Hanyu Luo,Yuhang Li et al.
Zhiwei Yu et al.
Background: The applicability and utility of clinical predictive models for respiratory failure in the pediatric Guillain-Barré syndrome (GBS) and Asian population are significantly constrained. Therefore, we aim to deve...
Spinal Muscular Atrophy-Survivorship and Care in a New Therapeutic Landscape [0.03%]
脊髓性肌萎缩症：新治疗格局下的生存和护理
Ruchee Patel,Andrea Carruth,Katherine Kundrat et al.
Ruchee Patel et al.
Spinal muscular atrophy (SMA) is an inherited lower motor neuron disorder resulting from autosomal recessive variants in the survival motor neuron protein (SMN1) located on chromosome 5q. Previously the most common inherited cause of infant...
Early Vocal Development in Tuberous Sclerosis Complex Predicts Language but Not Autism Outcomes [0.03%]
结节性硬化症儿童的早期语音发育预测语言能力而非自闭症风险
Tanjala T Gipson,Edina R Bene,Ching-Chi Yang et al.
Tanjala T Gipson et al.
Background: Language impairments impact 72% of individuals with tuberous sclerosis complex (TSC). Nevertheless, evaluations are often delayed until children are 7 years old or older. Earlier prediction of language impairm...
Quantifying Disability in Children Challenged by Communicative and Cognitive Disorders Using the ICF-CY-Checklist: Results of a Cross-Sectional Study of a Retrospectively Assembled Cohort [0.03%]
使用ICF-CY清单量化沟通和认知障碍儿童的残疾：横断面研究回顾性组建队列的结果
Mary Iype,T S Anish,Sanjeev V Thomas et al.
Mary Iype et al.
Background: The International Classification of Functioning, Disability, and Health-Children and Youth Version (ICF-CY)-check list, is a free tool, used to quantify disability. World Health Organization Disability Assessm...
Acute Necrotizing Encephalopathy in Children: Meta-Analysis of Observational Studies on the Efficacy of Steroid Treatment [0.03%]
儿童急性坏死性脑病的糖皮质激素治疗有效性的观察性研究Meta分析
Ari R Joffe,Gurpreet Khaira
Ari R Joffe
Background: To determine efficacy of early steroid therapy on outcomes in children with acute necrotizing encephalopathy. Methods: We l...
Victoria D&#x;Amours,Nafisa Husein,Michael Shevell
Victoria D&#x;Amours
Background: There is limited understanding of cerebral palsy (CP) in low-middle-income countries (LMICs). This retrospective cross-sectional study aims to describe and compare the phenotype, severity and etiologic profile...
Şeyma Sönmez Şahin,Süleyman Çakıroğlu,Mehmetcan Sezer et al.
Şeyma Sönmez Şahin et al.
Background: Migraine in childhood and adolescence is a common neurological disorder extending beyond headache attacks, often affecting cognitive, emotional, and behavioral functioning during the interictal phase. Although...
Seeing the Unseen: The Neurodevelopmental Factors Related to Visual Impairments in Children With Unilateral Cerebral Palsy [0.03%]
洞见无形：儿童单侧脑瘫视觉损伤的相关神经发育因素分析
Monica Crotti,Nofar Ben Itzhak,Lisa Mailleux et al.
Monica Crotti et al.
Background: In children with unilateral cerebral palsy (uCP), the relation between different factors (brain damage, prematurity, and cerebral palsy side) and visual impairments, which are common but often 'unseen,' is not...