We proposed a taxonomy of advocate development in the field of developmental disabilities detived from the systematic evaluation of a Partnets in Policymaking program. Three developmental stages evolved: beginner, involved, and activist. Self-reports of advocacy actions and outcomes were collected from 3 participants with disabilities and 21 parents before and during training. A follow-up, semi...

Polyglutamine tract-binding protein-1 (PQBP-1) is a nuclear protein that interacts with various proteins, including RNA polymerase II and the spliceosomal protein U5-15kD. PQBP-1 is known to be associated with X-linked mental retardation in which a frameshift mutation in the PQBP-1 gene occurs. In the present study, we demonstrate that PQBP-1 binds to U5-15kD via a continuous 23-residue segment...

Mendelian inherited disorders due to deletions of adjacent genes on a chromosome have been described as "contiguous gene syndromes." Short stature, chondrodysplasia punctata, mental retardation, steroid sulfatase deficiency, and Kallmann syndrome have been found as isolated entities or associated in various combinations in 27 patients with interstitial and terminal deletions involving the dista...

A diagnosis of mental retardation carries with it certain unique treatment needs that must be understood and addressed. Unfortunately, most psychiatrists are ill-equipped to handle this situation, having received little or no formal training in this area. This article is written with the specific goal of giving psychiatrists a better understanding of the special needs of patients with mental re...

OBJECTIVE This paper describes recent advances in the neurobiology of mental retardation, emphasizing new diagnostic resources provided by cytogenetics, molecular testing, and neuroimaging. SOURCES OF DATA MEDLINE (January 2000 through October 2003), using the following key words: mental retardation, developmental disability, child, and adolescent. Search of the Pediatrics and New England Jou...

ARX (the aristaless-related homeobox gene) is a transcription factor that participates in the development of GABAergic and cholinergic neurons in the forebrain. Many ARX mutations have been identified in X-linked lissencephaly and mental retardation with epilepsy, and thus ARX is considered to be a causal gene for the two syndromes although the neurobiological functions of each mutation remain ...

OBJECTIVE This study investigated the relationship between mental retardation and lifetime events in patients with Duchenne muscular dystrophy (DMD). METHODS The data on mental retardation and ages of lifetime events (first walking, loss of ambulation, introductions of ventilator support and tube nutrition and death) were collected retrospectively, and the relationships between the factors we...

To the Congress of the United States: It is my intention to send shortly to the Congress a message pertaining to this Nation's most urgent needs in the area of health improvement. But two health problems—because they are of such critical size and tragic impact, and because their susceptibility to public action is so much greater than the attention they have received-are deserving of a wholly ne...

X-linked mental retardation (XLMR) can be subdivided into syndromic and nonsyndromic or nonspecific. Patients with non-syndromal XLMR show no characteristic manifestations, biochemical defects, or distinct fragile sites. Nevertheless, nonspecific XLMR seems to be heterogeneous. To determine the number and location of the genes responsible for XLMR, linkage studies in large pedigrees have to be ...