Our objective was to compare the quality of life (QoL) of children with epilepsy to that of typical children and children with cerebral palsy (CP). We measured self- and proxy-reported QoL of children with epilepsy and contrasted that with data for typical children (European KIDSCREEN project) and children with CP (SPARCLE study). Children ages 8-12 years with epilepsy were recruited from six Canadian sites. Same-aged children with CP and children in the general population aged 8-11 years came from several European countries. All participants completed the KIDSCREEN-52 questionnaire. Our results showed no clinically important differences (>0.5 SD) between self-reported QoL in 345 children with epilepsy compared with 489 children with CP or 5950 children in the general population. However, parents reported clinically important differences between the epilepsy and the other groups in five KIDSCREEN-52 domains. Compared with the CP group, parents of children with epilepsy reported better QoL in physical well-being (Cohen d=0.81), social support (d=0.80), and autonomy (d=0.72). Parents reported poorer QoL in the domains of mood and emotions compared with both contrast groups (d=-0.72 and d=-0.53), and in the domain of bullying compared with the CP group (d=-0.51). Families should find comfort in the results, which indicate that children with epilepsy do not perceive any important differences in QoL compared with their typical peers. The comparisons of parental reports detect their group-specific observations and worries that need to be addressed by the health-care providers and may require specifically designed assessment batteries followed by appropriate interventions.
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http://dx.doi.org/10.1016/j.yebeh.2015.09.009 | DOI Listing |
J Med Life
November 2024
Department of Radiology and Imagistic Medicine 1, Faculty of Medicine, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.
The gene (OMIM: 608271) encodes the Microtubule-Actin Cross-Linking Factor 1 protein. Existing medical research shows that genetic mutations in the gene have been associated with neurodevelopmental and neurodegenerative disorders, with variants of unknown significance also linked to autism spectrum disorder (ASD). However, the number of reported autism disorder or epilepsy cases associated with mutations remains limited.
View Article and Find Full Text PDFParkinsonism Relat Disord
January 2025
Unit of Neurorehabilitation, Bambino Gesù Children's Hospital, IRCCS, Rome, 00165, Italy.
Segmental Brainstem Myoclonus (SBM) is a rare movement disorder characterized by rhythmic contractions of muscles innervated by brainstem segments. We report a 20-year-old patient with ADCK3-related spinocerebellar ataxia type 9 (SCAR9) presenting with sudden-onset myoclonic movements of the throat, tongue, and soft palate. Brain MRI showed stable findings, including dentate nucleus hyperintensities.
View Article and Find Full Text PDFZhonghua Yi Xue Yi Chuan Xue Za Zhi
October 2025
Department of Pediatric Neurology, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.
Objective: To explore the clinical and genetic characteristics of two children diagnosed with two rare genetic diseases simultaneously.
Methods: Two children with comorbidity of two genetic diseases due to dual genetic mutations diagnosed at the Third Affiliated Hospital of Zhengzhou University respectively in May 2022 and March 2023 were selected as the study subjects. Clinical and genetic data of the two children were retrospectively analyzed.
Epilepsy Res
January 2025
Jane and John Justin Institute for Mind Health, Cook Children's Medical Center, Ft Worth, TX, USA.
Lennox-Gastaut syndrome (LGS) is a severe developmental and epileptic encephalopathy characterized by multiple drug-resistant seizure types, cognitive impairment, and distinctive electroencephalographic patterns. Neuromodulation techniques, including vagus nerve stimulation (VNS), deep brain stimulation (DBS), and responsive neurostimulation (RNS), have emerged as important treatment options for patients with LGS who do not respond adequately to antiseizure medications. This review, developed with input from the Pediatric Epilepsy Research Consortium (PERC) LGS Special Interest Group, provides practical guidance for clinicians on the use of these neuromodulation approaches in patients with LGS.
View Article and Find Full Text PDFProc Int Brain Comput Interface Conf
September 2024
Department of Neurologic Surgery, Mayo Clinic, Rochester, MN, USA.
In this study, we developed and validated an online analysis framework in MATLAB Simulink for recording and analysis of intracranial electroencephalography (iEEG). This framework aims to detect interictal spikes in patients with epilepsy as the data is being recorded. An online spike detection was performed over 10-minute interictal iEEG data recorded with Brain Interchange CorTec in three human subjects.
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