Intelligence quotient-genotype association in dystrophinopathies: A systematic review and meta-analysis.

IF 4 2区医学 Q1 CLINICAL NEUROLOGY

Neuropathology and Applied Neurobiology Pub Date : 2023-06-01 DOI:10.1111/nan.12914

Carlos Pascual-Morena, Iván Cavero-Redondo, Irene Sequí-Domínguez, Eva Rodríguez-Gutiérrez, María Eugenia Visier-Alfonso, Vicente Martínez-Vizcaíno

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引用次数: 1

Abstract

Aims: Becker muscular dystrophy (BMD) and Duchenne muscular dystrophy (DMD) are associated with intelligence quotients (IQs) lower than the normative values, and it is suggested that IQ is negatively correlated with the number of affected isoforms (i.e., Dp427, Dp140 and Dp71). Therefore, the objective of this meta-analysis was to estimate the IQ, and the IQ-genotype association according to the altered dystrophin isoforms, in the population with BMD or DMD.

Methods: A systematic search in Medline, Web of Science, Scopus and the Cochrane Library was conducted from inception to March 2023. Observational studies that determined the IQ and/or the IQ by genotype in the population with BMD or DMD were included. Meta-analyses of IQ, IQ by genotype and IQ-genotype association by comparing IQ according to the genotype were conducted. The results are shown as the mean/mean differences and 95% confidence intervals.

Results: Fifty-one studies were included. The IQ in BMD was 89.92 (85.84, 94.01) and in DMD was 84.61 (82.97, 86.26). Moreover, the IQ for Dp427-/Dp140+/Dp71+ and Dp427-/Dp140-/Dp71+ was 90.62 (86.72, 94.53) and 80.73 (67.49, 93.98) in BMD, while the IQ for Dp427-/Dp140+/Dp71+, Dp427-/Dp140-/Dp71+ and Dp427-/Dp140-/Dp71- was 93.05 (89.42, 96.67), 81.78 (77.23, 86.32) and 49.19 (40.47, 57.90) in DMD. Finally, in DMD, Dp427-/Dp140-/Dp71+ vs Dp427-/Dp140+/Dp71+ and Dp427-/Dp140-/Dp71- vs Dp427-/Dp140-/Dp71+ were associated with -10.73 (-14.66, -6.81) and -36.14 (-48.87, -23.41) points, respectively.

Conclusions: The IQ in BMD and DMD was lower than the normative values. Moreover, in DMD, there is a synergistic association between the number of affected isoforms and IQ.

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营养不良症的智商-基因型关联:系统回顾和荟萃分析。

目的:Becker muscular dystrophy (BMD)和Duchenne muscular dystrophy (DMD)与智商(IQ)低于正常值相关，提示智商与患病亚型(即Dp427、Dp140和Dp71)的数量呈负相关。因此，本荟萃分析的目的是根据BMD或DMD人群中肌营养不良蛋白亚型的改变来估计智商以及智商与基因型的关联。方法:系统检索Medline、Web of Science、Scopus和Cochrane Library数据库，检索时间自成立至2023年3月。在BMD或DMD人群中通过基因型确定智商和/或智商的观察性研究被纳入。对智商、基因型智商和按基因型比较智商与基因型关联进行meta分析。结果显示为均值/均值差和95%置信区间。结果:纳入51项研究。BMD组IQ为89.92 (85.84,94.01)，DMD组IQ为84.61(82.97,86.26)。Dp427-/Dp140+/Dp71+和Dp427-/Dp140-/Dp71+ BMD的IQ分别为90.62(86.72、94.53)和80.73(67.49、93.98)，Dp427-/Dp140+/Dp71+、Dp427-/Dp140-/Dp71+和Dp427-/Dp140-/Dp71- DMD的IQ分别为93.05(89.42、96.67)、81.78(77.23、86.32)和49.19(40.47、57.90)。最后，在DMD中，Dp427-/Dp140-/Dp71+与Dp427-/Dp140+/Dp71+和Dp427-/Dp140-/Dp71-与Dp427-/Dp140-/Dp71+分别与-10.73(-14.66，-6.81)和-36.14(-48.87，-23.41)点相关。结论:BMD和DMD患者的IQ低于正常值。此外，在DMD中，受影响亚型的数量与智商之间存在协同关联。

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来源期刊

Neuropathology and Applied Neurobiology 医学-病理学

CiteScore

8.20

自引率

2.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Neuropathology and Applied Neurobiology is an international journal for the publication of original papers, both clinical and experimental, on problems and pathological processes in neuropathology and muscle disease. Established in 1974, this reputable and well respected journal is an international journal sponsored by the British Neuropathological Society, one of the world leading societies for Neuropathology, pioneering research and scientific endeavour with a global membership base. Additionally members of the British Neuropathological Society get 50% off the cost of print colour on acceptance of their article.