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…

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…

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…

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…

Background: People with epilepsy and intellectual disability should be considered at high risk of developing metabolic bone disease. Risk is increased with number of comorbidities and polypharmacy, particularly anti-seizure medications. One way of improving bone health is to ensure that every one has adequate levels of vitamin D through…

The clinical similarity among different neuropsychiatric disorders (NPDs) suggested a shared genetic basis. We catalogued 23,109 coding de novo mutations (DNMs) from 6511 patients with autism spectrum disorder (ASD), 4,293 undiagnosed developmental disorder (UDD), 933 epileptic encephalopathy (EE), 1022 intellectual disability (ID), 1094…

Background: We now have sufficient evidence demonstrating inequalities in specific avoidable causes of death for adults with intellectual disability compared to their peers without intellectual disability. Apart from COVID-19, the largest differentials that disadvantage people with intellectual disability are in relation to pneumonia, aspiration…

CDKL5 deficiency disorder (CDD) results in early-onset epilepsy and lifelong cognitive and motor impairments. With no validated measure for communication in CDD, this study evaluated the psychometric properties of the Communication and Symbolic Behavior Scales-Developmental Profile Infant Toddler Checklist (CSBS-DP ITC). Caregivers (n = 150;…

Persons with rare, epilepsy-related disorders often have intellectual disability and need long-term care. Informal and formal caregivers need information in order to care for the persons in a safe way. Aims: The aims of this review were: (1) to obtain an overview of caregiver-reported information needs; and (2) to investigate if there are…

Background: Children and adolescents with cerebral palsy (CP) commonly have behaviour problems. The present study aimed to determine which of the most common clinical features experienced by children and adolescents with CP and intellectual disability are associated with behaviour problems. Method: We investigated 11 possible associated variables…

The prevalence of autism spectrum disorder in the world has increased over the last decade, but the prevalence, incidence, and characteristics of autism spectrum disorder in China were not well understood. Using administrative data, we aimed to estimate the prevalence and incidence of autism spectrum disorder and describe the co-occurring…

The literature from inception to 2020 on the prevalence of epilepsy in autistic individuals was systematically reviewed and further explored by subgroup analyses and meta-regression models. This systematic review is registered with PROSPERO (CRD42020179725). A total of 66 studies from 53 articles were included. The updated pooled prevalence of…

The Interagency Autism Coordinating Committee (IACC) is a federal advisory committee that advises the Secretary of Health and Human Services (HHS) on issues related to autism spectrum disorder (ASD). It was established by the "Children's Health Act of 2000" (Public Law 106-310), reconstituted under the Combating Autism Act of 2006 (CAA;…