Epilepsy, school readiness in Canadian children: Data from the National Longitudinal Study of Children and Youth (NLSCY)

Purpose Utilizing data from the National Longitudinal Survey of Children and Youth (NLSCY) we evaluated the association between childhood epilepsy and health impairments on measures of school readiness employed in the survey. Methods Standard scores on the Peabody Picture Vocabulary Test-Revised (PPVT-R) were employed in a regression analysis to compare scores in children with and without epilepsy. We also examined the effect of impairments in any of the 8 domains of the Health Utilities index (HUI) on test scores. Results A total sample size of 39,130 children (20,044 males, and 19,086 female were included in the analysis, 33,560 children were administered the PPVT-R at a mean age of 4.5 years. There were 70 children with epilepsy, 21 had a score of 1 on the HUI, 21 were assessed to have a HUI \u3c 1 (signifying health impairments in one or more of the 8 domains). In the remainder, the PPVT scores were missing. Using the Ordinary Least Squares (OLS) regression for continuous outcomes model for PPVT-R scores as the outcome variable, females scored 1.1 points higher (β = 1.1, 95%CI 0.755, 1.444, p = 0.000), children without epilepsy and HUI score of \u3c1 scored 3.84 points lower (β = -3.843 95%CI -4.232, -3.452, p = 0.000). Children with epilepsy and a HUI score of 1 scored 9.90 points lower (β = -9.902, 95%CI -16.343, -3.461, p = 0.003) while those with epilepsy and HUI \u3c 1 scored 17.30 lower (β = -17.308, 95%CI -23.776, -10.839, p = 0.000). Conclusion The data provide objective evidence that children with epilepsy are at risk of scholastic underachievement at school entry, while those with additional health impairments as measured by the HUI are at greater risk of underachievement. © 2014 British Epilepsy Association

Early onset epilepsy and inherited metabolic disorders: Diagnosis and management

Epileptic encephalopathies presenting in early life present a diagnostic and therapeutic challenge. These disorders present with multiple seizure types that are treatment resistant and associated with significant abnormalities on electroencephalographic studies. The underlying etiology in many cases may be related to an inborn error of metabolism. Efforts to establish the specific diagnosis of a genetic defect or an inborn error of metabolism often results in requests for a vast array of biochemical and molecular tests leading to an expensive workup. In this review, we present the clinician with information that provides a rationale for a selective and nuanced approach to biochemical assays, and initial treatment strategies while waiting for a specific diagnosis to be established. A careful consideration of the presentation, identification of potentially treatable conditions, and consultation with the biochemical genetics laboratory can lead to a greater measure of success while limiting cost overruns. Such a targeted approach is hoped will lead to an early diagnosis and appropriate interventions

Epilepsy, school readiness in Canadian children: Data from the National Longitudinal Study of Children and Youth (NLSCY)

Purpose Utilizing data from the National Longitudinal Survey of Children and Youth (NLSCY) we evaluated the association between childhood epilepsy and health impairments on measures of school readiness employed in the survey. Methods Standard scores on the Peabody Picture Vocabulary Test-Revised (PPVT-R) were employed in a regression analysis to compare scores in children with and without epilepsy. We also examined the effect of impairments in any of the 8 domains of the Health Utilities index (HUI) on test scores. Results A total sample size of 39,130 children (20,044 males, and 19,086 female were included in the analysis, 33,560 children were administered the PPVT-R at a mean age of 4.5 years. There were 70 children with epilepsy, 21 had a score of 1 on the HUI, 21 were assessed to have a HUI \u3c 1 (signifying health impairments in one or more of the 8 domains). In the remainder, the PPVT scores were missing. Using the Ordinary Least Squares (OLS) regression for continuous outcomes model for PPVT-R scores as the outcome variable, females scored 1.1 points higher (β = 1.1, 95%CI 0.755, 1.444, p = 0.000), children without epilepsy and HUI score of \u3c1 scored 3.84 points lower (β = -3.843 95%CI -4.232, -3.452, p = 0.000). Children with epilepsy and a HUI score of 1 scored 9.90 points lower (β = -9.902, 95%CI -16.343, -3.461, p = 0.003) while those with epilepsy and HUI \u3c 1 scored 17.30 lower (β = -17.308, 95%CI -23.776, -10.839, p = 0.000). Conclusion The data provide objective evidence that children with epilepsy are at risk of scholastic underachievement at school entry, while those with additional health impairments as measured by the HUI are at greater risk of underachievement. © 2014 British Epilepsy Association

Epilepsy, comorbid conditions in Canadian children: Analysis of cross-sectional data from cycle 3 of the national longitudinal study of children and youth

Purpose: The purpose of this study was to analyze national survey data to provide estimates of prevalence of epilepsy and associated developmental disabilities and comorbid conditions. Methods: We analyzed data from Cycle 3 of Canada\u27s National Longitudinal Survey of Children and Youth. The NLSCY captured, socio-demographic information, as well as age, sex, education, ethnicity, household income, chronic health related conditions from birth to 15 years old. The main survey question intended to identify epilepsy , cerebral palsy , intellectual disability , learning disability , and emotional and nervous difficulties in the population of children surveyed. Prevalence was based on the national cross-sectional sample and used 1000 bootstrap weights to account for survey design factors. Results: Cycle 3 of the NLSCY had the largest number of patients with diagnosed epilepsy. Prevalence figures (n/1000) for epilepsy and cerebral palsy (EPI-CP), epilepsy and intellectual disability (EPI-ID), epilepsy and learning disability (EPI-LD), and epilepsy and emotional nervous difficulties (EPI-EMO- NERV) were 1.1, 1.17, 2.58 and 1.34 respectively. Amongst children with epilepsy, 43.17% reported the presence of one or more of the above comorbid conditions. Conclusion: These results provide an initial prevalence estimate of comorbid conditions with epilepsy in Canadian children. In a high proportion of children with epilepsy, the PMK had reported at least one comorbid disorder. These findings carry implications for health care utilization and long-term outcomes. We discuss methodological aspects related to the ascertainment of epilepsy in both surveys, and to the validity and implications of our findings

Epilepsy, comorbid conditions in Canadian children: Analysis of cross-sectional data from cycle 3 of the national longitudinal study of children and youth

Purpose: The purpose of this study was to analyze national survey data to provide estimates of prevalence of epilepsy and associated developmental disabilities and comorbid conditions. Methods: We analyzed data from Cycle 3 of Canada\u27s National Longitudinal Survey of Children and Youth. The NLSCY captured, socio-demographic information, as well as age, sex, education, ethnicity, household income, chronic health related conditions from birth to 15 years old. The main survey question intended to identify epilepsy , cerebral palsy , intellectual disability , learning disability , and emotional and nervous difficulties in the population of children surveyed. Prevalence was based on the national cross-sectional sample and used 1000 bootstrap weights to account for survey design factors. Results: Cycle 3 of the NLSCY had the largest number of patients with diagnosed epilepsy. Prevalence figures (n/1000) for epilepsy and cerebral palsy (EPI-CP), epilepsy and intellectual disability (EPI-ID), epilepsy and learning disability (EPI-LD), and epilepsy and emotional nervous difficulties (EPI-EMO- NERV) were 1.1, 1.17, 2.58 and 1.34 respectively. Amongst children with epilepsy, 43.17% reported the presence of one or more of the above comorbid conditions. Conclusion: These results provide an initial prevalence estimate of comorbid conditions with epilepsy in Canadian children. In a high proportion of children with epilepsy, the PMK had reported at least one comorbid disorder. These findings carry implications for health care utilization and long-term outcomes. We discuss methodological aspects related to the ascertainment of epilepsy in both surveys, and to the validity and implications of our findings

Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease: Case and Review

We report three brothers born to consanguineous parents of Syrian descent, with a homozygous novel c.324G\u3eA (p.W108) mutation in PTRH2 that encodes peptidyl-tRNA hydrolase 2, causing infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD). We describe the core clinical features of postnatal microcephaly, motor and language delay with regression, ataxia, and hearing loss. Additional features include epileptic seizures, pancreatic insufficiency, and peripheral neuropathy. Clinical phenotyping enabled a targeted approach to the investigation and identification of a novel homozygous nonsense mutation in PTRH2, c.324G\u3eA (p.W108). We compare our patients with those recently described and review the current literature for IMNEPD

The expanding phenotype of MELAS caused by the m.3291T \u3e C mutation in the MT-TL1 gene

Crown Copyright © 2016 Published by Elsevier Inc. m.3291T \u3e C mutation in the MT-TL1 gene has been infrequently encountered in association with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), however remains poorly characterized from a clinical perspective. In the following report we describe in detail the phenotypic features, long term follow up (\u3e 7 years) and management in a Caucasian family with MELAS due to the m.3291T \u3e C mutation and review the literature on m.3291T \u3e C mutation. The clinical phenotype in the proposita included overlapping features of MELAS, MERRF (Myoclonic epilepsy and ragged-red fiber syndrome), MNGIE (Mitochondrial neurogastrointestinal encephalopathy), KSS (Kearns-Sayre Syndrome) and CPEO (Chronic progressive external ophthalmoplegia)

Genetic Testing in Children with Epilepsy: Report of a Single-Center Experience

Background: Retrospective observational study to determine diagnostic yield and utility of genetic testing in children with epilepsy attending the Epilepsy Clinic at Children\u27s Hospital, London, Ontario, Canada. Methods: Children (birth-18 years) with epilepsy, who were seen in a 10-year period (January 1, 2008-March 31, 2018), were selected using defined inclusion criteria and by combining clinic datasets and laboratory records. Results: In total, 105 children (52.38% male and 47.61% female) with a variety of seizures were included in the analysis. Developmental delay was documented in the majority (83; 79.04%). Overall, a genetic diagnosis was established in 24 (22.85%) children. The diagnostic yield was highest for whole-exome sequencing (WES), at 35.71%. The yield from microarray was 8.33%. Yields of single-gene testing (18.60%) and targeted multigene panel testing (19.23%) were very similar. Several likely pathogenic and pathogenic variants not previously reported were identified and categorized using ACMG criteria. All diagnosed patients underwent a review of anti-seizure medication management and received counseling on natural history of their disease, possible complications, recurrence risks, and possibilities of preimplantation or prenatal genetic diagnosis. Conclusions: Our study confirms the multiple benefits of detecting a genetic etiology in children with epilepsy. Similar yields in single versus multigene testing underscore the importance of accurate clinical phenotyping. Patients with epilepsy and their caregivers in Ontario would undoubtedly benefit from repatriation of multigene panels and WES to the province