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 manual presents information about major causes of developmental disabilities, discusses strategies to prevent development disabilities, and identifies relevant resources and reference material. Introductory information defines developmental disabilities and prevention (under Virginia statutes). The first section considers causes prior to and…

Depression doubles the likelihood of comorbid depression, which presents as major depression in 11% and subsyndromal depression in 31% of patients with the medical illness. The course of depression is chronic, and afflicted patients suffer an average of one episode annually. Depression has unique importance in diabetes because of its association…

The objective of our study was to evaluate the frequency of treatable inborn errors of metabolism (IEM) in a clinical sample of Mexican children and adolescents with neurodevelopmental disorders (NDD). Amino acids and acylcarnitines in blood samples of 51 unrelated children and adolescents were analyzed by tandem mass spectrometry to detect…

Youth with Autism Spectrum Disorder (ASD) are at an increased risk for developing obesity when compared to their typically developing peers. Given higher prevalence of obesity in youth with ASD, understanding factors relating to success in obesity treatment provides insight into implementing efficacious treatments for youth. The current study…

The 10-year longitudinal case study describes the history, speech therapy program, and treatment results for an adult male with Wilson's disease, a genetically based metabolic progressive neurological disorder which includes severe speech problems. (DB)

This document consists of two booklets, one in Spanish and one in English, both covering the same text: the characteristics of mentally retarded individuals, the prevalence of mentally retarded persons in Texas, causes of mental retardation, prevention possibilities, and services available to mentally retarded persons in Texas. A distinction is…

Presented is a report on the current status of implementation of the Presidential goal (made in 1971) to reduce by half the incidence of mental retardation by the end of this century. Major conclusions are as follows: no major agency of the Department of Health, Education, and Welfare (HEW) has been made responsible for seeing that the goal is put…

This book consists of papers and panel discussions presented at a conference that focused on encouraging American Indian and Alaska Native students to enter the field of biomedical research. Research and treatment of diseases among Native populations can best be carried out by American Indian and Alaska Native researchers who have a background in…

This report describes recent progress in knowledge on alcohol abuse and alcoholism. These topics are covered: (1) alcohol abuse and alcoholism, including drinking patterns, etiology, and alcohol dependence as a disease; (2) epidemiology, including morbidity and deaths; (3) genetics and environment, including twin and adoption studies, animal…

Theories regarding organic determinants of learning and behavior disorders are reviewed historically. Cases illustrating how a bio-ecologic examination can isolate the substances to which a person reacts and some of the reasons for those reactions are presented; and the role of various disorders in relation to the central nervous system is…

Each year, state newborn screening programs test 4 million newborns for disorders that require early detection and treatment to prevent serious illness or death. The U.S. General Accounting Office (GAO) was asked to provide Congress with information on variations among state newborn screening programs. Based on surveys of such programs in all 50…

Epidemiologic studies link increased autism spectrum disorder (ASD) risk to obstetrical conditions associated with inflammation and steroid dysregulation, referred to as prenatal metabolic syndrome (PNMS). This pilot study measured steroid-related biomarkers in early second trimester maternal serum collected during the first and second trimester…

Loxapine substitution is a promising option for patients with autism spectrum disorder (ASD) who develop antipsychotic-induced metabolic illness. We performed a chart review of 15 adolescents and adults meeting DSM-IV-TR criteria for ASD, all with antipsychotic-associated weight gain, who received low dose loxapine in an attempt to taper or…

This review evaluates evidence for metabolic etiologies in autism spectrum disorders, as well as for the efficacy of dietary and vitamin treatments. The relationship between gastrointestinal abnormalities and autism spectrum disorders is also considered, and the need for more research on larger populations of individuals with autism is stressed.…