SYNGAP1-related ID is a genetic condition characterised by global developmental delay and epilepsy. Individuals with SYNGAP1-related ID also commonly show differences in attention and social communication/interaction and frequently receive additional diagnoses of Autism Spectrum Disorder (ASD) or Attention Deficit Hyperactivity Disorder (ADHD). We…

We examine the cost-effectiveness of treating epilepsy with anti-epileptic medicines in autistic children, looking at impacts on healthcare providers (in England, Ireland, Italy and Spain) and children's families (in Ireland). We find carbamazepine to be the most cost-effective drug to try first in children with newly diagnosed focal seizures. For…

This study aimed to describe the behavioral profile of individuals with SYNGAP1-ID. Parents/carers of 30 individuals aged 3-18 years old with a diagnosis of SYNGAP1-ID and 21 typically developing individuals completed the Vineland-3 Adaptive Behavior Scale and the Child Behavior Checklist. We found that those with SYNGAP1-ID showed fewer adaptive…

Children with epilepsy are at increased risk for language and reading difficulties. Phonological processing and language underlie reading success, yet their association with reading achievement in children with epilepsy is unknown. We assessed phonological processing, oral language, and reading in children (ages 6 to 12) with epilepsy (EP; n = 6),…

Sex education rarely covers disability. This paper uses autoethnography to reflect on how being epileptic impacted the author's understanding of sex and sexuality. The paper grapples with disability narratives and internalised ableism surrounding sex. The paper seeks to engage with conceptions of "who" sex education is for, and how…

This systematic review aimed to identify factors significantly associated with the occurrence of epilepsy in autistic individuals and to consider the impact of study quality on findings. Electronic databases were systematically searched on October 2nd, 2020 and records retrieved were limited to those published from 2000 onwards. Study quality was…

Background: Previous research indicated a high prevalence of disordered sleep among adults with learning disabilities, however issues with design impacted findings. The current systematic review aims to: (1) present how disordered sleep and sleep disorders amongst adults with learning disabilities are described in the literature, and (2) report on…

This is a retrospective case series of pediatric patients referred to the psychogenic nonepileptic events clinic (PNEE) who had comorbid diagnoses of autism spectrum disorder (ASD) or intellectual disability (ID). We describe 15 patients, nine with ASD and six with ID who had a telephone visit follow-up at 12 months. There were higher rates of…

To assess the role of clinical features in diagnosing seizures in children with autism spectrum disorder who present with staring spells. A 10-year retrospective chart analysis of autism spectrum disorder patients aged 3-14 years was performed at a tertiary care children's hospital. Patient demographics, clinical presentation, and epileptic…

Tuberous sclerosis complex (TSC) is a genetic condition characterized by both medical and neuropsychiatric diagnoses that emerge across the lifespan. As part of a clinical trial, caregivers of children with TSC were interviewed about their experiences navigating medical, school, and social services. Semistructured interviews (N = 20) with…

Primary informal caregivers perform most of the caring work with no financial compensation and often no training, experiencing the burden of care. Unless their socioeconomic status allows them to hire a formal caregiver for their care recipients or use healthcare facilities, they need to spend their opportunity cost to take care of their care…

This study examined hospitalizations in a large, all-payer, nationally representative sample of inpatient hospitalizations in the US and identified differences in rates of hospitalization for conditions by race and ethnicity in autistic adults. Conditions examined included mood disorders, epilepsy, schizophrenia, and ambulatory care sensitive…

Duplication of chromosome 15q11.2-q13.1 (dup15q syndrome) results in hypotonia, intellectual disability (ID), and autism symptomatology. Clinical electroencephalography has shown abnormal sleep physiology, but no studies have characterized sleep behaviors. The present study used the Children's Sleep Habits Questionnaire (CSHQ) in 42 people with…

Background: While epilepsy can decrease quality of life and self-determination in individuals without intellectual disabilities, the impact of epilepsy on experienced self-determination in people with intellectual disabilities remains unclear. Method: We conducted semi-structured interviews with six adults (four men, two women) aged 30-61 with…

Echolalia is a typical feature of children with epilepsy and autism, but whether it is pathological is still controversial. This article aims to explore the contentious issue of echolalia based on data from three selected Chinese children with epilepsy and autism. Through discourse analysis, we explored two types of echolalia: immediate echolalia…