Aim: To study the aetiology of intellectual disability in patients presenting to hospital and the diagnostic yield of a standardized examination. Method: Over a 1-year period, the first three children presenting to the paediatric outpatients department (OPD) on 2 selected weekdays with developmental delay, suspected intellectual disability, or…

Autism spectrum disorders (ASD) are serious neurodevelopmental disorders which often co-occur with intellectual disabilities. A disorder which is strongly correlated with both of these disabilities are seizures and epilepsy. The purpose of this review was to provide an overview of available research on seizures and epilepsy in the ASD population…

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…

This pamphlet reviews the historical process involved in initially recognizing Rett Syndrome as a specific disorder in girls. Its etiology is unknown, but studies have considered factors as hyperammonemia, a two-step mutation, a fragile X chromosome, metabolic disorder, environmental causation, dopamine deficiency, and an inactive X chromosome.…

This booklet provides an overview of autism and discusses strategies for living and working with children with autism. The first section of the guide, "Understanding the Problem," addresses the characteristics of autism, including social symptoms, language difficulties, repetitive behaviors and obsessions, sensory symptoms, and unusual…

This guide provides information on Batten Disease to assist in planning a quality educational program for the student with the disease. Because Batten Disease, or neuronal ceroid lipofuscinosis, causes the death of brain cells, students with the disease are described as suffering from mental impairment, worsening seizures, and progressive loss of…