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…

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…

People with learning disabilities are sometimes prescribed psychotropic medication to help manage their challenging behaviour. This case study describes how a multicomponent behavioural intervention in conjunction with the systematic withdrawal of sodium valproate was strongly correlated with reduced aggression. No symptoms of bipolar disorder or…

Research that focuses on detecting and assessing the presence of communication impairments in children with developmental disabilities exists. However, more research is needed which compares these deficits across individuals with various developmental disabilities. This information could inform the assessment process and treatment programs.…

The attainment of developmental milestones was examined and compared in 162 infants and toddlers with developmental disabilities, including Down Syndrome (n = 26), Cerebral Palsy (n = 19), Global Developmental Delay (n = 22), Premature birth (n = 66), and Seizure Disorder (n = 29). Toddlers in the Seizures Disorder group began crawling at a…

Aim: To estimate the prevalence of cerebral palsy (CP) and the frequency of co-occurring developmental disabilities (DDs), gross motor function (GMF), and walking ability using the largest surveillance DD database in the US. Methods: We conducted population-based surveillance of 8-year-old children in 2006 (N = 142,338), in areas of Alabama,…

This study investigated sleep of children with autism and developmental regression and the possible relationship with epilepsy and epileptiform abnormalities. Participants were 104 children with autism (70 non-regressed, 34 regressed) and 162 typically developing children (TD). Results suggested that the regressed group had higher incidence of…

The aim was to characterize the panorama of developmental disorders in 208 preschool children with a clinical diagnosis of autism spectrum disorder (ASD), referred to a specialized centre, the Autism Centre for Young Children (ACYC), for intervention. At the centre, a research team examined all children according to structured protocols and…

Differential diagnosis of epilepsy versus pseudoepileptic seizures in the developmentally disabled by use of an eight-channel radiotelemetered electroencephalograph-video recording system suggested that traditional diagnosis on the basis of clinical description, interictal electroencephalogram, and medical history may be inaccurate. (Author/DB)

This study found a high incidence of nontraumatic fractures in adults with developmental disabilities living in a state-run facility, a 7.3% incidence among 391 adults. Factors associated with fractures included use of antiepileptic medication. Although bone mineral density (BMD) by heel ultrasound did not predict fracture, values were much lower…

There is considerable interest in the assessment of executive function (EF) in pediatric clinical populations but only a few well-standardized measures exist. We examined EF in 53 children aged 8 to 18 years with recent onset epilepsy (31 males, 22 females) and 50 control children (23 males, 27 females) using the Behavior Rating Inventory of…

This three-year pilot program provided an opportunity to work intensively with a small group of severe epileptic clients in a comprehensive rehabilitation center setting. The goals of the program were not only to evaluate intensively and attempt to maximize the individual client's potential for working and living in society through the provision…

Epilepsy is one of the most misunderstood and stigmatized disorders in society. A four-hour workshop was conducted over two days with the first two hours discussing types of epilepsy, causes, treatment, and medication. The second part of the study focused on social and psychological implications of epilepsy. (JN)

Followup 8 years after reduction of antiepileptic drugs in 50 institutionalized developmentally disabled epileptic patients found recurrence of seizures in 26 patients. Predictors for a seizure-free state off medication included few documented seizures in lifetime, no gross neurological abnormalities, and persistently normal electroencephalograms.…

Background: Tuberous sclerosis (TS) is a multi- system disorder with complex genetics. The neurodevelopmental manifestations of TS are responsible for considerable morbidity. The prevalence of epilepsy and intellectual disabilities among individuals with TS have been well described. Ours is the first study that explores the prevalence and pattern…