Genetic testing is recommended for patients with ASD; however specific recommendations vary by specialty. American Academy of Pediatrics and American Academy of Neurology guidelines recommend G-banded karyotype and Fragile X DNA. The American College of Medical Genetics recommends Chromosomal Microarray Analysis (CMA). We determined the yield of…

The co-occurrence of epilepsy in people with intellectual disabilities (ID) and other developmental disabilities (DD) has received attention because it has a significant negative impact on health, well-being, and quality of life. The current research investigating the frequency and form of epilepsy in children with ID and DD is reviewed, with…

This study describes medical conditions experienced by a population-based cohort of adults with autism spectrum disorder whose significant developmental concerns were apparent during childhood. As part of a 25-year outcome study of autism spectrum disorder in adulthood, medical histories were collected on 92 participants (N = 69 males) who were…

We present two phenotypically similar females with Xp duplication who have autism and epilepsy. Case 1 is a 14-year-old Honduran female with autism and medically refractory complex partial, secondarily generalized epilepsy. Case 2 is a 3-year-old Austrian female with autism and medically refractory complex partial epilepsy. Both patients also…

We describe six cases from three unrelated consanguineous Egyptian families with a novel characteristic brain malformation at the level of the diencephalic-mesencephalic junction. Brain magnetic resonance imaging demonstrated a dysplasia of the diencephalic-mesencephalic junction with a characteristic "butterfly"-like contour of the…

Objective: There is clinical heterogeneity among the autism spectrum disorders (ASD). The presence of dysmorphology (minor physical anomalies; MPAs) is one possible tool for defining a clinically relevant subset in ASD. This study employs an adaptation of Miles and Hillman's (2000) classifications by using photographs to identify a subgroup with…

This study investigated differences in co-occurring diagnoses made in females compared to males with autism spectrum disorders in 913 children (746 males and 167 females) living in the United States with a current autism spectrum disorder diagnosis identified via caregiver-reported data from the National Survey of Children's Health 2007. The…

Self-injurious behavior (SIB) is a devastating condition associated with intellectual and developmental disabilities (IDD). Efforts to understand its development are focused on early childhood when the behavior first emerges. Limited prevalence data on SIB during early childhood are currently available. The purpose of this study was to determine…

A national survey of caregivers of individuals with fragile X syndrome addressed characteristics of epilepsy and co-occurring conditions. Of the 1,394 individuals (1,090 males and 304 females) with the full mutation, 14% of males and 6% of females reported seizures. Seizures were more often partial, began between ages 4 and 10 years, and were…

Since the early 1970s, neuroscientists recognized that it was possible for patients to re-regulate brain wave activity. Much of this early work focused on helping persons with epilepsy control their seizures and was later extended toward helping children with attention deficit hyperactivity disorder (ADHD) with concentration. This brainwave…

Fixed momentary schedules of differential reinforcement of other behavior (FM DRO) generally have been ineffective as treatment for problem behavior. Because most early research on FM DRO included presentation of a signal at the end of the DRO interval, it is unclear whether the limited effects of FM DRO were due to (a) the momentary response…

Gamma-aminobutyric acid A (GABA[subscript A]) receptors are ligand-gated ion channels responsible for mediation of fast inhibitory action of GABA in the brain. Preliminary reports have demonstrated altered expression of GABA receptors in the brains of subjects with autism suggesting GABA/glutamate system dysregulation. We investigated the…

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…

We used National Fragile X Survey data in order to examine reported self-injurious behavior (SIB) to (a) generate lifetime and point prevalence estimates, (b) document detailed features of SIB (frequency, types, location, severity) in relation to gender, and (c) compare comorbid conditions between matched pairs (SIB vs. no SIB). Results indicate…

Children with developmental disabilities are at increased risk for epilepsy with a prevalence rate higher than the general population. Some of the more common developmental disorders in childhood and the features of epilepsy in these conditions are discussed. Specifically, autism, cerebral palsy, mental retardation, and attention deficit and…