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A boy with autism spectrum disorder with antibodies to the NMDA-type glutamate receptor: nine-year follow-up, changes in cognitive function . 患有nmda型谷氨酸受体抗体的自闭症谱系障碍男孩:9年随访,认知功能变化。
IF 1.9 3区 心理学 Q3 CLINICAL NEUROLOGY Pub Date : 2026-01-01 Epub Date: 2025-04-22 DOI: 10.1080/09297049.2025.2495232
Tomoko Takeuchi, Takashi Enokizono, Mai Tanaka, Takayoshi Jin, Yukitoshi Takahashi, Hidetoshi Takada

Herein, we report a 12-year-old boy with autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) who showed a cognitive decline at age 7 and tested positive for cerebrospinal fluid (CSF) N-methyl-D-aspartate (NMDA)-type glutamate receptor (GluR) antibodies using an enzyme-linked immunosorbent assay (ELISA). His cognitive function developed between ages 3 and 5, reaching a total domain developmental quotient (DQ) of 61 on the revised Kyoto Scale of Psychological Development 2001. Despite multiple treatments, his total domain DQ declined to 21 at 10 years and 3 months of age and further to 16 at 12 years and 0 month. The child regressed in cognitive function, losing previously acquired knowledge and skills, resulting in an unbalanced profile. Previously recorded strengths, weaknesses, and preferences were no longer evident. The anti-NMDA-type GluR antibodies might hinder the regaining of cognitive functions once lost and the reconstruction of developmental characteristics in patients with ASD/ADHD. Patients with ASD and ADHD who test positive for NMDA-type GluR antibodies (ELISA) may not follow a typical clinical course.

在此,我们报告了一名患有自闭症谱系障碍(ASD)和注意缺陷多动障碍(ADHD)的12岁男孩,他在7岁时表现出认知能力下降,并使用酶联免疫吸附试验(ELISA)检测脑脊液(CSF) n -甲基- d -天冬氨酸(NMDA)型谷氨酸受体(GluR)抗体呈阳性。他的认知功能在3岁至5岁之间发展,在2001年修订的京都心理发展量表中达到61的总领域发展商(DQ)。尽管多次治疗,他的总域DQ在10岁零3个月时下降到21,在12岁零0个月时下降到16。儿童的认知功能退化,失去了先前获得的知识和技能,导致不平衡的形象。以前记录的优点、缺点和偏好不再明显。抗nmda型GluR抗体可能会阻碍ASD/ADHD患者失去的认知功能的恢复和发育特征的重建。nmda型GluR抗体(ELISA)检测呈阳性的ASD和ADHD患者可能不遵循典型的临床病程。
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引用次数: 0
Associations between mathematical skills and white matter microstructure in children born preterm. 早产儿数学技能与白质微结构的关系。
IF 1.9 3区 心理学 Q3 CLINICAL NEUROLOGY Pub Date : 2026-01-01 Epub Date: 2025-05-21 DOI: 10.1080/09297049.2025.2497331
Julia Adrian, Diliana Pecheva, Carolyn Sawyer, Natacha Akshoomoff

Preterm birth affects both white matter microstructure and mathematical skills, but little is known about the association between these outcomes. Using a hypothesis-driven ROI approach, we studied five white matter tracts previously associated with mathematical cognition: the corpus callosum, corticospinal tract (CST), inferior longitudinal fasciculus (ILF), inferior frontal occipital fasciculus (IFOF), and superior longitudinal fasciculus. Forty-eight children born before 33 weeks of gestation and twenty-seven children born full-term received a diffusion weighted MRI scan and completed a standardized mathematics test at age 5 and again at age 7. Term status significantly moderated the effect of fractional anisotropy (FA) of the right and left CST, left ILF, and left IFOF when predicting mathematical skills at 5 and 7 years of age. Post-hoc analyses of these effects revealed a positive association of FA in these tracts with mathematical skills in the full-term group, while this association was absent or negative in the preterm group. These differences may reflect adaptive processes following preterm birth and the recruitment of alternative pathways during mathematical problem-solving.

早产会影响白质微观结构和数学能力,但对这些结果之间的关联知之甚少。使用假设驱动的ROI方法,我们研究了先前与数学认知相关的五个白质束:胼胝体、皮质脊髓束(CST)、下纵向束(ILF)、额枕下束(IFOF)和上纵向束。48名怀孕前33周出生的儿童和27名足月出生的儿童接受了扩散加权核磁共振扫描,并在5岁和7岁时完成了标准化数学测试。在预测5岁和7岁儿童数学技能时,学期状态显著调节了左、右CST、左ILF和左IFOF分数各向异性(FA)的作用。对这些影响的事后分析显示,足月组中这些区域的FA与数学技能呈正相关,而在早产儿组中则不存在或呈负相关。这些差异可能反映了早产后的适应过程和数学问题解决过程中替代途径的招募。
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引用次数: 0
[Formula: see text] Neuropsychological outcomes in pediatric MOGAD: clinical practice and future research. 小儿MOGAD的神经心理学结果:临床实践和未来研究。
IF 1.9 3区 心理学 Q3 CLINICAL NEUROLOGY Pub Date : 2026-01-01 Epub Date: 2025-04-16 DOI: 10.1080/09297049.2025.2489697
Sarah Rudebeck, Michael Eyre, Ming Lim

Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disorder (MOGAD) is a recently identified demyelinating condition affecting children and adults. Its impact on children's cognitive outcomes remains poorly understood but is a growing area of interest due to potential long-term implications. A systematic PubMed search was conducted to identify English-language studies that assessed cognition in individuals under 18 with MOGAD using neuropsychological tests, screening tools, or questionnaires. Children with MOGAD, particularly those with phenotypes such as AcuteDisseminated Encephalomyelitis (ADEM) and Neuromyelitis Optica SpectrumDisorder (NMOSD), often exhibit impairments in intellectual functioning, memory, processing speed, and working memory. However, some children maintain cognitive performance within the normal range. Cognitive difficulties are linked to disease relapses and may develop over time, although brain lesions do not consistently correlate with cognitive outcomes. Current studies, limited by small sample sizes, indicate that children with MOGAD are at risk for cognitive impairments. Regular neuropsychological monitoring is essential for pediatric MOGADpatients to identify and address cognitive challenges early, mitigating risks of academic and occupational underachievement. Multicentre multinational studies are needed to understand the cognitive profile of MOGAD better and assess the influence of disease-related variables on cognitive outcomes.

髓鞘少突胶质细胞糖蛋白抗体相关疾病(MOGAD)是最近发现的一种影响儿童和成人的脱髓鞘疾病。它对儿童认知结果的影响仍然知之甚少,但由于潜在的长期影响,这是一个越来越受关注的领域。在PubMed上进行了系统的搜索,以确定使用神经心理学测试、筛选工具或问卷调查评估18岁以下MOGAD患者认知能力的英语研究。患有MOGAD的儿童,特别是那些具有急性播散性脑脊髓炎(ADEM)和视神经脊髓炎光谱障碍(NMOSD)等表型的儿童,通常表现出智力功能、记忆、处理速度和工作记忆的损伤。然而,有些孩子的认知能力保持在正常范围内。认知困难与疾病复发有关,并可能随着时间的推移而发展,尽管脑损伤并不总是与认知结果相关。目前的研究受限于小样本量,表明患有MOGAD的儿童有认知障碍的风险。定期的神经心理监测对于儿科患者早期识别和解决认知挑战,减轻学业和职业成绩不佳的风险至关重要。需要进行多中心多国研究,以更好地了解MOGAD的认知概况,并评估疾病相关变量对认知结果的影响。
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引用次数: 0
Direct effects of dyscalculia on executive functions: revisiting mediation models. 计算障碍对执行功能的直接影响:重新审视中介模型。
IF 1.9 3区 心理学 Q3 CLINICAL NEUROLOGY Pub Date : 2025-12-30 DOI: 10.1080/09297049.2025.2610225
Salahddine Zerouali, Hamid Kaddouri, Abdelouahed El-Kamia, Smail Alaoui

Dyscalculia, a specific learning disability in mathematics, is linked to deficits in executive functions, yet integrative studies in Arabic-speaking contexts remain scarce. This study examined working memory, inhibition, and cognitive flexibility collectively in children with dyscalculia. Using 64 children (32 per group), advanced techniques including Ridge regression, PCA, and ROC analysis assessed these functions. Both groups demonstrated average intelligence (Raven's Progressive Matrices), with the dyscalculia group showing profound mathematical deficits across nine arithmetic domains. Significant group differences emerged in all three executive functions (p < .001), with large effect sizes (d = -2.15 to -1.80; r = 0.80), extremely high predictive accuracy (ROC-AUC = 0.999, requiring replication), and significant correlations with mathematical performance (r = .32 to .62, all p < .01). Unexpectedly, no significant mediation was observed (ACME: p > .05), with dyscalculia exerting direct effects, and a significant interaction limited to cognitive flexibility (β = 0.62, p = .043). These findings contribute to understanding executive function architecture in dyscalculia and mark the first integrative analysis in an Arabic-speaking context. Results may support early diagnostic tools and targeted interventions addressing specific executive function deficits, offering potential advancements for educational practices in Arabic-speaking regions, though cross-cultural validation remains essential.

计算障碍是一种特殊的数学学习障碍,与执行功能缺陷有关,但在阿拉伯语背景下的综合研究仍然很少。本研究考察了计算障碍儿童的工作记忆、抑制和认知灵活性。使用64名儿童(每组32名),采用Ridge回归、PCA和ROC分析等先进技术评估这些功能。两组都表现出平均的智力水平(Raven’s Progressive Matrices),计算障碍组在9个算术领域表现出严重的数学缺陷。三种执行功能的组间差异均显著(p r = 0.80),预测准确度极高(ROC-AUC = 0.999,需要重复),且与数学表现显著相关(r = 0.80)。32到。62、所有的p p >。05),计算障碍产生直接影响,而显著的相互作用限制了认知灵活性(β = 0.62, p = 0.043)。这些发现有助于理解计算障碍的执行功能结构,并标志着在阿拉伯语背景下的第一次综合分析。结果可能支持早期诊断工具和针对特定执行功能缺陷的有针对性的干预措施,为阿拉伯语地区的教育实践提供潜在的进步,尽管跨文化验证仍然必不可少。
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引用次数: 0
The impact of autism and ADHD symptomology and cognitive functioning on executive functioning in autistic children. 自闭症和ADHD症状和认知功能对自闭症儿童执行功能的影响。
IF 1.9 3区 心理学 Q3 CLINICAL NEUROLOGY Pub Date : 2025-12-28 DOI: 10.1080/09297049.2025.2599903
Kandice J Benallie, Maryellen Brunson McClain, Sarah E Schwartz, Gwendolyn Davis, Andrea Lopez

Children with ADHD, autism, and/or IDD often demonstrate EF challenges. Many children with these conditions likely demonstrate overlapping and differing EF presentations and profiles of strengths and difficulties. The extant literature investigating the impact of co-occurring ADHD and IDD on the EF of autistic children is limited and contradictory, potentially due to varying levels of symptom severity, undiagnosed co-occurring ADHD and ID, and overlapping areas of EF. Consequently, we examine how autism symptomology, ADHD symptomology, and cognitive functioning predict the EF of autistic children. Participants were 65 autistic children between the ages of 6 and 17 years and their caregivers. Multilevel modeling was used to determine the impact of ADHD symptom severity, autism symptom severity, and cognitive functioning on the EF of children with autism. Aspects of ADHD symptomology - specifically hyperactivity - and autism symptomology - namely social communication difficulties - had a significant and positive relation with EF functioning. After controlling for hyperactivity and social communication skills, there were significant differences in EF domains with emotion regulation being the most negatively impacted. The severity of ADHD and autism symptoms is positively related to EF difficulties in autistic children. Specifically, greater levels of hyperactivity and social communication difficulties predict more EF challenges. Emotion regulation appears to be the EF skill most impacted. A significant association between cognitive functioning and EF was not found in this sample.

患有多动症、自闭症和/或缺碘症的儿童经常表现出EF方面的挑战。许多患有这些疾病的儿童可能表现出重叠和不同的EF表现以及优势和困难的概况。现有研究ADHD和IDD共存对自闭症儿童EF的影响的文献有限且相互矛盾,可能是由于症状严重程度不同、未确诊的ADHD和ID共存以及EF的重叠区域。因此,我们研究自闭症症状学、ADHD症状学和认知功能如何预测自闭症儿童的EF。参与者是65名年龄在6到17岁之间的自闭症儿童和他们的照顾者。采用多水平模型确定ADHD症状严重程度、自闭症症状严重程度和认知功能对自闭症儿童EF的影响。ADHD的症状——特别是多动症——和自闭症的症状——即社会沟通困难——与EF功能有显著的正相关。在控制了多动和社交技能后,情绪调节受到的负面影响最大。自闭症儿童ADHD和自闭症症状的严重程度与EF困难呈正相关。具体来说,更严重的多动症和社交困难预示着更多的EF挑战。情绪调节似乎是受影响最大的EF技能。在这个样本中没有发现认知功能和EF之间的显著关联。
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引用次数: 0
In-depth profile analysis and developmental trends in Wechsler performance among individuals with Williams syndrome. 威廉姆斯综合征患者韦氏表现的深入分析和发展趋势。
IF 1.9 3区 心理学 Q3 CLINICAL NEUROLOGY Pub Date : 2025-12-23 DOI: 10.1080/09297049.2025.2603410
Cristan Farmer, Bonita P Klein-Tasman, Ashley Chun, Ivy Giserman-Kiss, Lisa Joseph, Colby Chlebowski, Beth A Kozel, Audrey E Thurm

Williams syndrome is caused by a microdeletion of genes on chromosome 7q11.23. It is estimated that 75% of individuals with Williams syndrome meet criteria for intellectual disability. The existing literature, primarily using the Differential Ability Scales, supports a pattern of relative weakness in visuospatial construction and language abilities commensurate with or slightly stronger than overall cognitive functioning. However, it is unclear how cognitive profile patterns are captured by current versions of the Wechsler system of assessment, which is more commonly used in community settings. Further, few longitudinal data on cognitive profiles exist, limiting conclusions about developmental trends. The current study included 59 individuals with Williams syndrome aged 4-24 years assessed with the age-appropriate Wechsler test a median of twice over 3 ± 1.5 years. The results of this study confirmed the profile found in the extant literature, but there was evidence of heterogeneity in relative strengths and weaknesses that necessitates individual evaluation. Careful longitudinal modeling of between- and within-person effects suggested stability of standard scores in all domains. The results of this study inform a developmental understanding of the Williams syndrome cognitive profile and improve the interpretability of research findings for clinical and school settings where the Wechsler system is commonly used.

威廉姆斯综合征是由染色体7q11.23上的基因微缺失引起的。据估计,75%的威廉姆斯综合症患者符合智力残疾的标准。现有的文献,主要使用差异能力量表,支持视觉空间结构和语言能力相对较弱的模式,与整体认知功能相当或略强。然而,目前还不清楚韦氏评估系统的当前版本是如何捕获认知轮廓模式的,韦氏评估系统更常用于社区环境。此外,关于认知概况的纵向数据很少,限制了关于发展趋势的结论。目前的研究纳入了59名年龄在4-24岁的威廉姆斯综合征患者,采用与年龄相适应的韦氏试验进行评估,中位数为3±1.5年两次。本研究的结果证实了现有文献中发现的概况,但有证据表明,相对优势和劣势存在异质性,需要进行个体评估。仔细的纵向建模人与人之间和内部的影响表明,在所有领域的标准分数的稳定性。本研究的结果为威廉姆斯综合征认知概况的发展理解提供了信息,并提高了临床和学校环境中韦氏系统常用的研究结果的可解释性。
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引用次数: 0
Cognitive disengagement syndrome and peer relationships of youth with critical congenital heart defects. 重度先天性心脏缺陷青少年认知脱离综合征与同伴关系。
IF 1.9 3区 心理学 Q3 CLINICAL NEUROLOGY Pub Date : 2025-12-12 DOI: 10.1080/09297049.2025.2599857
Olivia G Ritchey, Eva L Darow, Amber T Riggs, Andrea Goard, Jamie L Jackson, May Ling Mah, H Gerry Taylor, Kathryn Kirkpatrick, Kathryn Vannatta

Worldwide, approximately 1 in 100 children are born with a congenital heart defect, with 25% of those being classified as critical and posing risks for neurocognitive deficits due to cyanosis. Cognitive Disengagement Syndrome (CDS) has yet to be examined in children with critical congenital heart defects (cCHD) despite calls for research in pediatric populations with acquired brain injury and associated deficits. Children with cCHD, ages 9-13, were identified through patient registries and comparison classmates CC were matched after completing sociometric surveys of peer relationships in schools. Caregiver ratings of CDS symptoms and children's self-report of peer interaction and social adjustment were obtained at home visits with both groups (NcCHD = 108, NCC = 72). Children with cCHD exhibited greater CDS symptoms than CC (d = 0.31, p = .011). CDS symptoms were associated with peer and self-reports of social difficulty, in particular the experience of peer victimization and fewer reciprocated friendships at school relative to healthy peers. CDS symptoms partially accounted for higher self-reported victimization and social problems in cCHD survivors but did not account for group differences in peer-reported social difficulties. These indirect effects were no longer significant after controlling for parent reports of broader symptoms of attention deficit hyperactivity disorder (ADHD). Future research is needed to better disentangle the comparative influence of CDS and ADHD symptoms on the psychosocial outcomes of children with cCHD and other chronic conditions involving brain injury and heightened neurodevelopmental risk.

在世界范围内,大约每100名儿童中就有1名患有先天性心脏缺陷,其中25%被列为重症,并有因紫绀而导致神经认知缺陷的风险。认知脱离综合征(CDS)尚未在患有严重先天性心脏缺陷(cCHD)的儿童中进行研究,尽管人们呼吁对患有获得性脑损伤和相关缺陷的儿童人群进行研究。患有cCHD的儿童年龄为9-13岁,通过患者登记进行鉴定,并在完成学校同伴关系的社会计量调查后匹配比较同学CC。两组在家访时均获得照顾者对CDS症状的评分以及儿童同伴互动和社会适应的自我报告(NcCHD = 108, NCC = 72)。cCHD患儿比CC患儿表现出更多的CDS症状(d = 0.31, p = 0.011)。CDS症状与同伴和自我报告的社交困难有关,特别是与健康同伴相比,同伴受害的经历和在学校较少的相互友谊。在cCHD幸存者中,CDS症状部分解释了较高的自我报告的受害和社会问题,但不能解释同伴报告的社会困难的群体差异。在控制了父母报告的更广泛的注意缺陷多动障碍(ADHD)症状后,这些间接影响不再显著。未来的研究需要更好地解开CDS和ADHD症状对cCHD儿童和其他慢性疾病(包括脑损伤和神经发育风险增加)的心理社会结局的比较影响。
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引用次数: 0
Assessing executive attention in autistic children: strengths, weaknesses and individual differences. 评估自闭症儿童的执行注意力:优势、劣势和个体差异。
IF 1.9 3区 心理学 Q3 CLINICAL NEUROLOGY Pub Date : 2025-12-09 DOI: 10.1080/09297049.2025.2600608
Francesca Anderle, Angela Pasqualotto, Arianna Bentenuto, Paola Venuti, Francesco Benso

Research consistently shows that autistic children often exhibit cognitive challenges, particularly in executive functions (EFs), since the preschool years. EFs are cognitive abilities that help regulate impulses, manage information, filter distractions, and shift focus between tasks. Various performance-based measures have been developed to assess EFs in autistic children. However, inconsistencies in findings have raised concerns about the ability of traditional EF measures to capture the real-life challenges these children face, largely due to reductionist approaches and the overlooked issue of task impurity. Here, we employed a broader comprehensive battery - the Measures of Executive Attention - to assess EFs in 43 autistic children aged 8-14 years, compared to 43 neurotypicals matched for age, sex, and fluid reasoning index. The results revealed that neurotypicals outperformed autistic children in most tasks. Specifically, autistic children showed lower performance in cognitive flexibility and generative thinking in a graphical task, as well as in working memory capacity under novel and emotionally stressful conditions. However, when fine motor and verbal skills were excluded from the composite score calculation, no group differences emerged in certain tasks, such as visual search and working memory capacity in a familiar exercise. Our findings highlight the importance of assessing executive attention through multidimensional and context-sensitive tools and offer new insights into cognitive variability in autism.

研究一致表明,自学龄前以来,自闭症儿童经常表现出认知挑战,特别是在执行功能(EFs)方面。ef是一种认知能力,有助于调节冲动、管理信息、过滤干扰、在任务之间转移注意力。已经开发了各种基于表现的方法来评估自闭症儿童的ef。然而,研究结果的不一致性引起了人们对传统EF测量方法能否捕捉这些儿童面临的现实挑战的担忧,这主要是由于简化的方法和被忽视的任务不纯问题。在这里,我们采用了一种更广泛的综合方法——执行注意力测量——来评估43名8-14岁自闭症儿童的ef,并与43名年龄、性别和流体推理指数相匹配的神经正常儿童进行比较。结果显示,在大多数任务中,神经正常的人比自闭症儿童表现得更好。具体来说,自闭症儿童在图形任务中的认知灵活性和生成思维以及在新奇和情绪压力条件下的工作记忆能力方面表现较差。然而,当精细运动和语言技能被排除在综合得分计算之外时,在某些任务中没有出现组间差异,比如视觉搜索和熟悉练习中的工作记忆容量。我们的研究结果强调了通过多维和上下文敏感工具评估执行注意力的重要性,并为自闭症的认知变异性提供了新的见解。
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引用次数: 0
Unpacking the role of working memory in reading comprehension: linear and non-linear perspectives in a transparent orthography. 工作记忆在阅读理解中的作用:透明正字法的线性和非线性视角。
IF 1.9 3区 心理学 Q3 CLINICAL NEUROLOGY Pub Date : 2025-12-03 DOI: 10.1080/09297049.2025.2596778
José-Pablo Escobar, Victoria Espinoza, Marcelo Valle

This study examines the direct and indirect effects of working memory on reading comprehension in a sample of 395 Chilean fourth-grade students (Mean age 9.97, SD = 0.51; 46% are females) within the context of Spanish, a transparent orthographic system. Using both linear and non-linear approaches, the research investigates the relation between working memory and reading comprehension, as well as whether this relation is mediated by a set of linguistic variables. The linear component was analyzed using path analysis, and the results showed that working memory has a significant direct effect on reading comprehension, as well as indirect effects through vocabulary, word reading, and reading speed. The indirect effect via vocabulary was the most substantial. The non-linear component was assessed using latent profile analysis, and the results revealed three distinct working memory cognitive profiles defined by child performance, which were associated with significantly different outcomes in reading comprehension and its predictors. These findings suggest that working memory is not only foundational for the development of fluent and meaningful reading but also interacts with language-related skills to support comprehension. The study highlights the importance of considering both inter and intra-individual differences in cognitive functioning to understand better the mechanisms underlying reading development in transparent orthographies.

本研究以395名智利四年级学生(平均年龄9.97,SD = 0.51, 46%为女性)为样本,在西班牙语这一透明的正字法系统背景下,考察了工作记忆对阅读理解的直接和间接影响。本研究采用线性和非线性两种方法,探讨了工作记忆与阅读理解之间的关系,以及这种关系是否受一系列语言变量的调节。结果表明,工作记忆对阅读理解具有显著的直接影响,并通过词汇量、单词阅读量和阅读速度产生间接影响。通过词汇产生的间接影响最为显著。非线性成分采用潜在剖面分析进行评估,结果揭示了三种不同的工作记忆认知剖面,它们与阅读理解结果及其预测因子有显著差异。这些发现表明,工作记忆不仅是发展流利和有意义的阅读的基础,而且还与语言相关技能相互作用,以支持理解。该研究强调了考虑个体间和个体内认知功能差异的重要性,以更好地理解透明正字法阅读发展的机制。
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引用次数: 0
Single-gene childhood developmental epileptic encephalopathies: a primer for pediatric neuropsychologists. 单基因儿童发育性癫痫性脑病:儿科神经心理学家的入门读物。
IF 1.9 3区 心理学 Q3 CLINICAL NEUROLOGY Pub Date : 2025-11-26 DOI: 10.1080/09297049.2025.2591632
Ashley L Nguyen-Martinez, Morgan Jolliffe, Lauren M Scimeca, Kristen L Park, Scott Demarest, Kelly G Knupp, Kaitlin Angione, Andrea S Miele

The growing fields of genetics and neurogenetics have brought increased attention to developmental and epileptic encephalopathies (DEEs), a group of rare epilepsy disorders that span genetic and neurological pathology. Among the genetic causes of DEEs, single-gene variants represent a significant and increasingly recognized category. These variants often lead to complex and distinct clinical presentations, including variable seizure types, neurocognitive profiles, and developmental trajectories. Foundational knowledge about these disorders, including their molecular and cellular etiologies, accompanying clinical symptoms, and developmental trajectories, can better inform neuropsychological practice, especially in guiding test selection and recommendations as well as highlighting limitations for evaluation. The primary objective of this paper is to provide an evidence-based primer on single-gene developmental epileptic encephalopathies for pediatric neuropsychologists working with these growing clinical and research populations. The manuscript begins with a broad overview of definitions relevant to the care of those with single-gene epilepsies. The paper then describes the clinical features and neurocognitive outcomes associated with the eight most common single-gene pediatric-onset epilepsies, which is subsequently followed by a brief overview of 13 additional single-gene pediatric-onset epilepsies. The paper concludes with a summary of the treatment landscape and discusses current considerations for neuropsychological assessment with this population.

遗传学和神经遗传学领域的不断发展引起了对发育性和癫痫性脑病(dee)的越来越多的关注,这是一组跨越遗传和神经病理学的罕见癫痫疾病。在dei的遗传原因中,单基因变异是一个重要且日益被认可的类别。这些变异常常导致复杂而独特的临床表现,包括不同的发作类型、神经认知特征和发育轨迹。关于这些疾病的基础知识,包括它们的分子和细胞病因、伴随的临床症状和发育轨迹,可以更好地为神经心理学实践提供信息,特别是在指导测试选择和推荐以及突出评估局限性方面。本文的主要目的是为儿科神经心理学家提供单基因发育性癫痫性脑病的循证引物,以应对这些不断增长的临床和研究人群。手稿开始与那些与单基因癫痫的护理相关的定义的广泛概述。然后,本文描述了与八种最常见的单基因儿科癫痫相关的临床特征和神经认知结果,随后简要概述了另外13种单基因儿科癫痫。本文总结了治疗前景,并讨论了目前对这一人群进行神经心理学评估的考虑。
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引用次数: 0
期刊
Child Neuropsychology
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