PDF(Pubmed)
Abstract：
UNASSIGNED: SLC6A1 pathogenic variants have been associated with epilepsy and neurodevelopmental disorders. The clinical phenotype includes different seizure types, intellectual disability, and psychiatric symptoms affecting mood and behavior. Few data regarding neuropsychological features have been described, and details on cognitive profiles are often missing due to the lack of standardized tests.
UNASSIGNED: We retrospectively reviewed the neuropsychological assessments of five subjects carrying heterozygous missense genetic variants in SLC6A1. We also collected data on epileptic features, EEGs, and brain MRIs. Additionally, we reviewed neuropsychological data from 204 previously reported patients with SLC6A1 pathogenic variants.
UNASSIGNED: In our series, at the last evaluation (median 12.6 years), three patients had borderline intellectual functioning, one patient had mild cognitive impairment, and one patient presented with a moderate cognitive disability. Three out of five patients underwent at least two neuropsychological evaluations, which revealed a worsening of cognitive functions over time. We detected attention deficits in all patients. In addition, we observed anxiety, disruptive behavior disorder, emotional instability, and hetero aggressiveness. We also performed a literature review that highlighted that most of the patients with SLC6A1 pathogenic variants have mild-to-moderate intellectual disability and that one-third of cases have autistic traits.
UNASSIGNED: Based on the literature review and the detailed description of our cases, we conclude that patients with SLC6A1-related epilepsy mostly present with mild-to-moderate intellectual disability, often associated with attention disorders. Such symptoms may worsen over time. Periodic standardized neuropsychological tests may be useful tools to follow development over time, and patient-specific rehabilitation programs could be tailored consistently.
UNASSIGNED: We retrospectively reviewed the neuropsychological assessments of five subjects carrying heterozygous missense genetic variants in SLC6A1. We also collected data on epileptic features, EEGs, and brain MRIs. Additionally, we reviewed neuropsychological data from 204 previously reported patients with SLC6A1 pathogenic variants.
UNASSIGNED: In our series, at the last evaluation (median 12.6 years), three patients had borderline intellectual functioning, one patient had mild cognitive impairment, and one patient presented with a moderate cognitive disability. Three out of five patients underwent at least two neuropsychological evaluations, which revealed a worsening of cognitive functions over time. We detected attention deficits in all patients. In addition, we observed anxiety, disruptive behavior disorder, emotional instability, and hetero aggressiveness. We also performed a literature review that highlighted that most of the patients with SLC6A1 pathogenic variants have mild-to-moderate intellectual disability and that one-third of cases have autistic traits.
UNASSIGNED: Based on the literature review and the detailed description of our cases, we conclude that patients with SLC6A1-related epilepsy mostly present with mild-to-moderate intellectual disability, often associated with attention disorders. Such symptoms may worsen over time. Periodic standardized neuropsychological tests may be useful tools to follow development over time, and patient-specific rehabilitation programs could be tailored consistently.
摘要：
■SLC6A1致病变异与癫痫和神经发育障碍有关。临床表型包括不同的癫痫发作类型,智力残疾,以及影响情绪和行为的精神症状.关于神经心理特征的数据很少被描述，由于缺乏标准化测试，认知资料的细节往往缺失。
■我们回顾了5名在SLC6A1中携带杂合错义遗传变异的受试者的神经心理学评估。我们还收集了癫痫特征的数据，脑电图,大脑MRI。此外,我们回顾了之前报道的204例SLC6A1致病变异患者的神经心理学数据.
■在我们的系列中，在上次评估中(中位数为12.6年)，三个病人有临界的智力功能，一名患者有轻度认知障碍,一名患者出现中度认知障碍。五分之三的患者接受了至少两次神经心理学评估，这表明认知功能随着时间的推移而恶化。我们检测到所有患者的注意力缺陷。此外,我们观察到焦虑，破坏性行为障碍,情绪不稳定,和异性恋侵略性。我们还进行了文献综述，强调大多数患有SLC6A1致病变异的患者具有轻度至中度智力残疾，并且三分之一的病例具有自闭症特征。
■根据文献综述和对我们案例的详细描述，我们得出结论，SLC6A1相关癫痫患者大多表现为轻度至中度智力障碍，通常与注意力障碍有关。这些症状可能会随着时间的推移而恶化。定期标准化神经心理学测试可能是随着时间的推移跟踪发展的有用工具，和患者特定的康复计划可以一致地定制。
■我们回顾了5名在SLC6A1中携带杂合错义遗传变异的受试者的神经心理学评估。我们还收集了癫痫特征的数据，脑电图,大脑MRI。此外,我们回顾了之前报道的204例SLC6A1致病变异患者的神经心理学数据.
■在我们的系列中，在上次评估中(中位数为12.6年)，三个病人有临界的智力功能，一名患者有轻度认知障碍,一名患者出现中度认知障碍。五分之三的患者接受了至少两次神经心理学评估，这表明认知功能随着时间的推移而恶化。我们检测到所有患者的注意力缺陷。此外,我们观察到焦虑，破坏性行为障碍,情绪不稳定,和异性恋侵略性。我们还进行了文献综述，强调大多数患有SLC6A1致病变异的患者具有轻度至中度智力残疾，并且三分之一的病例具有自闭症特征。
■根据文献综述和对我们案例的详细描述，我们得出结论，SLC6A1相关癫痫患者大多表现为轻度至中度智力障碍，通常与注意力障碍有关。这些症状可能会随着时间的推移而恶化。定期标准化神经心理学测试可能是随着时间的推移跟踪发展的有用工具，和患者特定的康复计划可以一致地定制。
