5q相关性脊髓性肌萎缩症1型患儿的认知障碍：两份病例报告和文献综述。

IF 2.1 3区医学 Q2 PEDIATRICS

Frontiers in Pediatrics Pub Date : 2024-09-27 eCollection Date: 2024-01-01 DOI:10.3389/fped.2024.1407341

Hua Yang, Jie Yang, Yawen Xue, Lihui Liao, Qianyun Cai, Rong Luo

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引用次数: 0

摘要

脊髓性肌萎缩症（SMA）是一种常染色体隐性遗传病，由 5 号染色体上的存活运动神经元 1（SMN1）基因突变引起，导致下运动神经元变性。有关 SMA 合并认知障碍的研究很少。在此，我们报告了两例中国 1 型 SMA 患儿的严重认知障碍，这在该人群中尚属首次。我们认为，严重的认知功能障碍可能是 SMA 的合并症之一。临床医生应在患者出现重症肌无力和肌萎缩并伴有认知障碍时考虑 SMA，以避免误诊和漏诊。

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Cognitive impairment in children with 5q-associated spinal muscular atrophy type 1: two case reports and the review of the literature.

Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by mutations in the survival motor neuron 1 (SMN1) gene on chromosome 5, leading to the degeneration of lower motor neurons. There are few studies on cognitive impairment comorbid with SMA. Here, we report two cases of severe cognitive impairment in Chinese children with SMA type 1, marking the first such reports in this demographic. We propose that severe cognitive dysfunction may be a comorbidity of SMA. Clinicians should consider SMA in patients presenting with severe muscle weakness and atrophy accompanied by cognitive impairments, to avoid misdiagnosis and oversight.

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来源期刊

Frontiers in Pediatrics Medicine-Pediatrics, Perinatology and Child Health

CiteScore

3.60

自引率

7.70%

发文量

2132

审稿时长

14 weeks

期刊介绍： Frontiers in Pediatrics (Impact Factor 2.33) publishes rigorously peer-reviewed research broadly across the field, from basic to clinical research that meets ongoing challenges in pediatric patient care and child health. Field Chief Editors Arjan Te Pas at Leiden University and Michael L. Moritz at the Children''s Hospital of Pittsburgh are supported by an outstanding Editorial Board of international experts. This multidisciplinary open-access journal is at the forefront of disseminating and communicating scientific knowledge and impactful discoveries to researchers, academics, clinicians and the public worldwide. Frontiers in Pediatrics also features Research Topics, Frontiers special theme-focused issues managed by Guest Associate Editors, addressing important areas in pediatrics. In this fashion, Frontiers serves as an outlet to publish the broadest aspects of pediatrics in both basic and clinical research, including high-quality reviews, case reports, editorials and commentaries related to all aspects of pediatrics.