Background: Persons with profound intellectual and multiple disabilities (PIMD) suffer from a wide range of health problems and use a wide range of different drugs. This study investigated for frequently used medication whether there was a health problem documented in the medical notes for the drug prescribed. Method: Persons with PIMD with an…

In clinical practice, it is important to predict as soon as possible after diagnosis and starting treatment, which children are destined to develop medically intractable seizures and be at risk of increased mortality. In this study, we determined factors predictive of long-term seizure and mortality outcome in a population-based cohort of 102…

Aim: Worster-Drought syndrome (WDS), or congenital suprabulbar paresis, is a permanent movement disorder of the bulbar muscles causing persistent difficulties with swallowing, feeding, speech, and saliva control owing to a non-progressive disturbance in early brain development. As such, it falls within the cerebral palsies. The aim of this study…

Aim: To establish any differences between patients with and without a diagnosis of personality disorders, being treated in a secure inpatient service for offenders with intellectual disability (ID) in the UK. Method: A cohort study involving a selected population of people with ID and offending behaviours. Results: The study included a total of…

The combined burden of psychosocial (Achenbach scales), cognitive (Raven matrices), and executive function (EF) problems was studied in a population-based sample of 6- to 12-year-old children with epilepsy (n = 162; 99 males, 63 females) and in an age- and sex-matched control group (n = 107; 62 males, 45 females). Approximately 35% of the children…

The aim of this study was to evaluate the resting energy expenditure (REE) of children with intractable epilepsy (IE) compared with healthy children, and to determine factors that contribute to the pattern of REE. REE, growth status, and body composition were assessed in 25 prepubertal children with IE (15 males, 10 females; mean age 5y 5mo [SD 2y…

People with epilepsy have various education needs and must adopt many self-management behaviors in order to control their condition. This study evaluates WebEase, an Internet-based, theory-driven, self-management program for adults with epilepsy. Thirty-five participants took part in a 6-week pilot implementation of WebEase. The main components of…

Background: Tuberous sclerosis (TSC) is a multi-system disorder caused by heterozygous mutations in the "TSC1" or "TSC2" gene and is often associated with neuropsychiatric symptoms, including intellectual disability, specific neuropsychological deficits, autism, other behavioural disorders and epilepsy. Method: Here, we review evidence from animal…

Recent theories have posited that the hippocampus and thalamus serve distinct, yet related, roles in episodic memory. Whereas the hippocampus has been implicated in long-term memory encoding and storage, the thalamus, as a whole, has been implicated in the selection of items for subsequent encoding and the use of retrieval strategies. However,…

Background: Lack of regular physical activity is globally one of the most significant risks to health. The main aims of this study were to describe the types and levels of regular physical activity undertaken by adults with intellectual disabilities, and to investigate the factors predicting low activity. Materials and Methods: Interviews were…

Speech-related fMRI activation was examined in six hemispherectomy patients (three left LX, three right RX, four with congenital and two with late-acquired hemiplegia) operated in childhood for the relief of drug-resistant epilepsy. Although the temporal and sensorimotor pattern of activation was similar to that found in neurologically intact…

Word finding difficulties are often reported by epileptic patients with seizures originating from the language dominant cerebral hemisphere, for example, in temporal lobe epilepsy. Evidence regarding the brain regions underlying this deficit comes from studies of peri-operative electro-cortical stimulation, as well as post-surgical performance.…

Guanidinoacetate methyltransferase (GAMT) deficiency is a disorder of creatine biosynthesis, characterized by early-onset learning disability and epilepsy in most affected children. Severe expressive language delay is a constant feature even in the mildest clinical phenotypes. We report the clinical, biochemical, imaging, and treatment data of two…

The aim of the present study was to describe the prevalence and associated factors of pervasive developmental disorders (PDD), including autistic disorder and PDD not otherwise specified (NOS), in a clinical sample of 126 children and adolescents (75 males, 51 females; age range 4-18y, mean 8y 8mo, SD 3y 8mo) with tetraplegic, hemiplegic,…

Mutations in the human X-linked cyclin-dependent kinase-like 5 ("CDKL5") gene have been shown to cause infantile spasms as well as Rett syndrome (RTT)-like phenotype. To date, less than 25 different mutations have been reported. So far, there are still little data on the key clinical diagnosis criteria and on the natural history of…