SLC13A5柠檬酸转运体障碍的发育表型和生活质量。

IF 3.8 2区医学 Q1 CLINICAL NEUROLOGY

Developmental Medicine and Child Neurology Pub Date : 2024-12-22 DOI:10.1111/dmcn.16218

Can Ozlu, Raegan M Adams, Rayann M Solidum, Sydney Cooper, Carrie R Best, Jennifer Elacio, Brian C Kavanaugh, Emily M Spelbrink, Tanya L Brown, Kimberly Nye, Judy S Liu, Rachel M Bailey, Kimberly Goodspeed, Brenda E Porter

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引用次数: 0

摘要

目的：探讨SLC13A5（可溶性载体家族13成员5）柠檬酸转运体障碍（developmental and epileptic encephalopathy 25, DEE25）患者的神经发育和生活质量。DEE25是一种罕见的遗传性早期婴儿癫痫性脑病，由一种柠檬酸钠转运体缺乏引起，以新生儿期癫痫发作负担重为特征。方法：我们使用Mullen早期学习量表、Peabody发育运动量表和Vineland适应行为量表的标准化评估，分析了DEE25前瞻性自然史研究的纵向神经发育结果。结果：在整个队列中存在显著的整体损害，生活质量可变，基因型-表型相关性有限。在每次访问中，患者的具体得分是稳定的，有证据表明，儿童早期的技能有适度的提高，青少年和成年期的技能则保持不变。解释：就与年龄相适应的发展的多种措施而言，预后较差。

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Developmental phenotype and quality of life in SLC13A5 citrate transporter disorder.

Aim: To describe the neurodevelopment and quality of life in SLC13A5 (solute carrier family 13 member 5) citrate transporter disorder (developmental and epileptic encephalopathy 25, DEE25), a rare genetic early infantile epileptic encephalopathy caused by deficiency of a sodium-citrate transporter, characterized by heavy seizure burden in the neonatal period.

Method: We analyzed longitudinal neurodevelopmental outcomes from a prospective natural history study of DEE25, using standardized assessments of Mullen Scales of Early Learning, Peabody Developmental Motor Scales, and Vineland Adaptive Behavior Scales.

Results: There was significant global impairment across the cohort, with variable quality of life and limited genotype-phenotype correlation. Patient-specific scores were stable across visits with evidence of modest gains in early childhood and static skills in adolescence and adulthood.

Interpretation: There is a poor prognosis in terms of multiple measures of age-appropriate development.

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来源期刊

Developmental Medicine and Child Neurology 医学-临床神经学

CiteScore

7.80

自引率

13.20%

发文量

338

审稿时长

3-6 weeks

期刊介绍： Wiley-Blackwell is pleased to publish Developmental Medicine & Child Neurology (DMCN), a Mac Keith Press publication and official journal of the American Academy for Cerebral Palsy and Developmental Medicine (AACPDM) and the British Paediatric Neurology Association (BPNA). For over 50 years, DMCN has defined the field of paediatric neurology and neurodisability and is one of the world’s leading journals in the whole field of paediatrics. DMCN disseminates a range of information worldwide to improve the lives of disabled children and their families. The high quality of published articles is maintained by expert review, including independent statistical assessment, before acceptance.