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Abstract
BackgroundAutism spectrum disorders (ASD) and epilepsy frequently occur together. Prevalence rates are variable, and have been attributed to age, gender, comorbidity, subtype of pervasive developmental disorder (PDD) and risk factors. Recent studies have suggested disparate clinical and genetic settings depending on simplex or multiplex autism. The aim of this study was to assess: 1) the prevalence of epilepsy in multiplex autism and its association with genetic and non-genetic risk factors of major effect, intellectual disability and gender; and 2) whether autism and epilepsy cosegregate within multiplex autism families.MethodsWe extracted from the Autism Genetic Resource Exchange (AGRE) database (n = 3,818 children from 1,264 families) all families with relevant medical data (n = 664 children from 290 families). The sample included 478 children with ASD and 186 siblings without ASD. We analyzed the following variables: seizures, genetic and non-genetic risk factors, gender, and cognitive functioning as assessed by Raven’s Colored Progressive Matrices (RCPM) and Vineland Adaptive Behavior Scales (VABS).ResultsThe prevalence of epilepsy was 12.8% in cases with ASD and 2.2% in siblings without ASD (P <10-5). With each RCPM or VABS measure, the risk of epilepsy in multiplex autism was significantly associated with intellectual disability, but not with gender. Identified risk factors (genetic or non-genetic) of autism tended to be significantly associated with epilepsy (P = 0.052). When children with prematurity, pre- or perinatal insult, or cerebral palsy were excluded, a genetic risk factor was reported for 6/59 (10.2%) of children with epilepsy and 12/395 (3.0%) of children without epilepsy (P = 0.002). Finally, using a permutation test, there was significant evidence that the epilepsy phenotype co-segregated within families (P <10-4).ConclusionsEpilepsy in multiplex autism may define a different subgroup in terms of clinical characteristics and genetic risk.
Highlights
Autism spectrum disorders (ASD) and epilepsy frequently occur together
Families with two or more members diagnosed with autism, pervasive developmental disorder-not otherwise specified (PDD-NOS) or Asperger syndrome may enroll in the Autism Genetic Resource Exchange (AGRE) program
Families were excluded from the AGRE program if they had participated in another genetic study, a confirmed neurogenetic disorder, a pre- or perinatal injury, prematurity defined as delivery before 35 weeks of gestational age for single births or before 33 weeks of gestational age for twin births, a known chromosomal abnormality, or an abnormal neurological examination
Summary
Prevalence rates are variable, and have been attributed to age, gender, comorbidity, subtype of pervasive developmental disorder (PDD) and risk factors. 5% to 30% of individuals with epilepsy have ASD [2,3,4,5], whereas the prevalence of ASD in the general population is about 1/150; recent studies reached even higher rates: 1/80 [6]. The variability of prevalence rates have been attributed to the heterogeneity of samples with respect to age, gender, comorbidity, subtype of ASD, intellectual disability and risk factors [7,8]. It may result from the criteria used to diagnose epilepsy. The genetic background of autism may have a considerable impact on epilepsy rates in autism
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