Introduction: Many studies have shown altered neuropsychological functioning of children with epilepsy even in the absence of intellectual disability, with notable concerns for both patients and their families. Although studies have described the cognitive profiles associated with specific epilepsy syndromes, there is incomplete agreement on the relation between spared and impaired abilities in different cognitive domains and on how deficits in one neuropsychological ability can secondarily affect performance in other cognitive domains. The aim of this study was to investigate the neuropsychological profile and vulnerabilities of children with epilepsy without intellectual disability or borderline intellectual functioning.
Method: 23 children aged 7-15 years, with a diagnosis of epilepsy of genetic or unknown cause and average intellectual functioning (IQ >85), were administered all age-appropriate tests of the Italian-language version (Urgesi, Campanella, & Fabbro, 2011) of a comprehensive neuropsychological battery (NEPSY-II: A Developmental Neuropsychological Assessment, Second Edition; Korkman, Kirk, & Kemp, 2007). Their performance was compared with that of a control group matched for gender, age, handedness and education.
Results: Children with epilepsy showed significant impairments as compared to the control group in tests of attention and executive functions and sensorimotor skills. Notably, particular difficulties were observed also in social perception tasks that require affect recognition, an ability that has been so far poorly considered in children with epilepsy.
Conclusions: The results highlight the importance of performing extensive evaluation of cognitive functions, including social cognition processes, in children with epilepsy with average intelligence in order to design appropriate interventions aimed at minimizing long-term consequences on educational and behavioral outcome.
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http://dx.doi.org/10.1080/13803395.2015.1076380 | DOI Listing |
Nord J Psychiatry
January 2025
Department of Biostatistics and Translational Medicine, Medical University of Lodz, Lodz, Poland.
Purpose: Attention-deficit hyperactivity disorder (ADHD) is a common neurodevelopmental condition that affects approximately 5% of the pediatric population, with increased prevalence among those with type 1 diabetes (T1D). Reports suggest that unrecognized and untreated ADHD impairs T1D control and that ADHD may be underdiagnosed in the Polish population. The International Society for Pediatric and Adolescent Diabetes recommends neurodevelopmental assessments in children with T1D, but specific guidelines on procedures and implementation are lacking.
View Article and Find Full Text PDFNutrients
January 2025
Department of Pediatrics, Buzzi Children's Hospital, 20154 Milan, Italy.
Background: The metabolism of plasma amino acid (AA) in children with autism spectrum disorder (ASD) has been extensively investigated, yielding inconclusive results. This study aims to characterize the metabolic alterations in AA profiles among early-diagnosed children with ASD and compare the findings with those from non-ASD children.
Methods: We analyzed plasma AA profiles, measured by ion exchange chromatography, from 1242 ASD children (median age = 4 years; 81% male).
J Clin Med
January 2025
Owerko Centre at the Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T2N 1N4, Canada.
: Our understanding of the transdiagnostic factors that influence health-related quality of life (HRQOL) in individuals with neurodivergent conditions is very sparse and highly siloed by diagnosis labels. Research on transdiagnostic predictors of HRQOL across neurodevelopmental conditions is needed to enable care models that address shared needs of neurodivergent individuals beyond diagnostic boundaries. Our objective was to identify transdiagnostic factors associated with HRQOL in children with autism, epilepsy, or comorbid autism/epilepsy.
View Article and Find Full Text PDFInt J Mol Sci
January 2025
Institute for Maternal and Child Health IRCCS Burlo Garofolo, Via dell'Istria, 65, 34137 Trieste, Italy.
Pathogenic variants in , encoding dynamin-like protein-1 (DRP1), cause a lethal encephalopathy. DRP1 defective function results in altered mitochondrial networks, characterized by elongated/spaghetti-like, highly interconnected mitochondria. We validated in yeast the pathogenicity of a de novo variant identified by whole exome sequencing performed more than 10 years after the patient's death.
View Article and Find Full Text PDFInt J Mol Sci
January 2025
Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität Berlin, and Berlin Institute of Health, 13353 Berlin, Germany.
Epilepsy affects 50 million people worldwide and is drug-resistant in approximately one-third of cases. Even when a structural lesion is identified as the epileptogenic focus, understanding the underlying genetic causes is crucial to guide both counseling and treatment decisions. Both somatic and germline DNA variants may contribute to the lesion itself and/or influence the severity of symptoms.
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