Gene/Protein Disease Symptom Drug Enzyme Compound
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The natural history of Williams syndrome, including medical complications, growth patterns, and problems in adulthood, was investigated. A growth pattern characterized by delay in the first 4 years of life, catch-up growth in childhood, and low ultimate adult height was found. Despite multiple medical problems in infancy, including feeding problems, failure to thrive, colic, and otitis media, mean age at diagnosis was 6.4 years. Developmental disabilities and cardiovascular disease were the major concerns in childhood. The older children developed progressive joint limitation and hypertonia. Adult patients were handicapped by their developmental disabilities. Hypertension, and gastrointestinal and genitourinary problems occurred frequently. Independent living and competitive employment were limited less by the individual's physical problems than by the psychologic and adaptive limitations. Williams syndrome is a progressive disorder with multisystem involvement.
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PMID:Natural history of Williams syndrome: physical characteristics. 245 79

The mean annual rate of decline of the probability of dying 5 years of age in developing countries is 2.5%. Nevertheless disease accounts for a considerable proportion of premature deaths. The leading causes of death in these countries, in order, include respiratory disease, diseases of the circulatory system, low birth weight, diarrhea, measles, injuries, malnutrition, and neoplasms. These conditions represent diseases of poverty and affluence. Respiratory infections are common among 5-year old children and cause a high proportion of child deaths. Circulatory diseases tend to be limited to adults. Control of hypertension, diet, smoking prevention, and exercise can prevent circulatory diseases. The risk of dying in infancy and childhood and of developmental disabilities is higher among low birth weight infants than those who weigh 2500 gm. In Bangladesh, 50% of infants weight 2500 gm. Low birth weight is the underlying cause of death for many infants who die of respiratory infections and diarrhea. Oral rehydration can successfully treat most diarrhea cases. Malnutrition and diarrhea tend to occur together and feed off each other. In fact malnourished people are more susceptible to all infections. Malnourished children suffer from disabilities in development and growth. The greatest sufferers of measles are infants and malnourished children. Immunization of all =or 9-month old infants would eradicate measles. Children and young adults are at the highest risk of injuries. Lung cancer is on the rise in developing countries due to the increase of tobacco smoking. Various means of controlling malaria are use of mosquito nets, antimalarial drugs, reduction of mosquito breeding places, and pesticides. The new infectious disease, AIDS, has emerged as a considerable health problem in developing countries. High priority research areas are vaccines for Streptococcus pneumonia, Plasmodium app., rotavirus, Salmonella typhi (Ty21a), and Shigella spp.
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PMID:Disease problems in the Third World. 269 79

The management of the behavior of mentally challenged adults when providing required dental care is often a problem, whether in the dental office or in a hospital setting. Our institution has a designated program to provide required dental care to this group of patients. Because of the high incidence of poor cooperation, which may include aggressive antagonistic behavior, many of these patients are scheduled for dental care under general anesthesia with an incomplete preoperative medical assessment. The purpose of this study was to determine the impact and limitations that an incomplete medical assessment may present in the delivery of dental care under general anesthesia to these adults with developmental disability. After approval from the institutional review board, the medical records of 139 patients treated in this program between 1992 and 1994 were reviewed to determine the patient profiles, anesthesia management, and complications. The charts of these patients, who underwent dental and radiographic examination, scaling and prophylaxis, and restoration and extraction of teeth under general anesthesia, were reviewed. There were 149 procedures performed on these patients, some more than once. The mean age was 29.5 yr. Males predominated females by a ratio of 2:1. All had multiple diagnoses, medical problems, and medications. Twenty-three patients had Down's Syndrome, four had schizophrenia disorders, 42 had seizure disorders, 11 had hypothyroidism, seven had heart disease, and 14 had central nervous system and neuromuscular disorders. The remainder had a variety of diagnoses, including rare syndromes. One hundred had intravenous (i.v.), 25 had mask inhalation, and 24 had intramuscular ketamine (Ketalar) induction. Nasotracheal intubation was uneventful in 139 patients, five had difficult visualization of the larynx and intubation. Ten patients experienced intraoperative complications, including nonfatal ventricular arrhythmia, slight fall in blood pressure and hypertension (greater than 20% of preoperative value), and four individuals developed laryngospasm. In the Post Anesthetic Care Unit, five patients experienced minor airway problems resulting in a desaturation of oxygen to a level below 85%. Adults with developmental disabilities can be safely managed under general anesthesia for dental treatment in a hospital setting with minimal morbidity and without extensive preoperative investigations.
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PMID:General anesthesia for the provision of dental treatment to adults with developmental disability. 979 4

Clinical and experimental data indicate the possible existence of a causal link between fetal and infant growth and diabetes, cardiovascular disease, and possibly obesity later in life. An experiment using rats was conducted to explore the long-term consequences of fetal protein malnutrition upon the biology of the pancreas and the outcome in terms of glucose intolerance in offspring. Pregnant rats were divided into 2 groups, an experimental group fed a low protein diet and a control group fed a normal protein diet. Both groups had equal energy intake. The offspring of the 2 groups were subsequently raised until reaching the adult age of 84 days. The experimental group was then further divided into 2 groups, one which continued with a low protein diet throughout life and a recovery group fed a diet adequate in protein from birth. The control group continued with a normal diet throughout life. Study results show that the lack of adequate protein availability during gestation induces developmental disabilities with consequences in adulthood in organs responsible for diabetes and causal for vascular disease and hypertension.
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PMID:The role of fetal and infant growth and nutrition in the causality of diabetes and cardiovascular disease in later life. 1232 82

People who develop coronary heart disease grow differently from other people both in utero and during childhood. Slow growth during fetal life and infancy is followed by accelerated weight gain in childhood. Two disorders that predispose to coronary heart disease, type 2 diabetes and hypertension, are preceded by similar paths of growth. Mechanisms underlying this are thought to include the development of insulin resistance in utero, reduced numbers of nephrons associated with small body size at birth and altered programming of the micro-architecture and function of the liver. Slow fetal growth might also heighten the body's stress responses and increase vulnerability to poor living conditions in later life. Coronary heart disease appears to be a developmental disorder that originates through two widespread biological phenomena, developmental plasticity and compensatory growth.
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PMID:Fetal programming of coronary heart disease. 1236 16

The literature on the health of adults with disabilities focuses on one disability compared to a comparison group. This study allows cross disability comparisons with the hypothesis. Adults with disabilities had higher odds of having common health conditions, compared to adults without disability in the same practice. A retrospective record review of 1449 patients with disability and 2084 patients without disability included individuals with sensory impairments (n = 117), developmental disabilities (n = 692), trauma-related impairments (n = 155) and psychiatric impairments (n = 485). The only two health conditions with statistically significantly increased odds for all groups with disabilities were dementia and epilepsy. Patients with developmental disabilities were less likely to have coronary artery disease, cancer, and obesity. Those with sensory impairments had increased odds for congestive heart failure, diabetes, transient ischemic attacks and death. Patients with trauma disabilities had increased odds for chronic obstructive pulmonary disease, and depression. Finally, psychiatric patients had increased odds for most of the investigated condition. In conclusion, there were many similarities in the risk for common health conditions such as asthma, cancer, coronary artery disease, depression, hypertension, and obesity, among patients with and without disability. Some of the conditions with increased odds ratios, including depression, seizures, and dementia are secondary to the primary disability.
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PMID:Variation in health conditions among groups of adults with disabilities in primary care. 1683 May 4

Supravalvular aortic stenosis (SVAS) is a congenital heart disease that can occur as an isolated autosomal-dominant condition or as part of the developmental disorder Williams-Beuren syndrome (WBS) and is caused by heterozygous genetic lesions involving the elastin (ELN) gene locus on chromosome 7ql 1.23. SVAS is one of many phenotypic features associated with the contiguous gene microdeletion disorder, WBS, and is caused by deletion of the ELN locus on one chromosome 7 homolog. Point mutations, chromosomal deletions, and translocation involving ELN have also been described in individuals with nonsyndromic SVAS. In addition, ELN is involved in the connective tissue disorder, autosomal-dominant cutis laxa, and has been implicated as a susceptibility gene for hypertension and intracranial aneurysms. The molecular analysis of ELN defects is, therefore, an area of significant interest. Genetic screening can be achieved using a variety of techniques to detect both mutations and gross chromosome rearrangements involving the ELN locus, providing the ability to screen families and individuals with SVAS and associated elastinopathies.
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PMID:Congenital heart disease: Molecular diagnostics of supravalvular aortic stenosis. 1693 10

Bardet-Biedl syndrome (BBS) is a rare developmental disorder with the cardinal features of abdominal obesity, retinopathy, polydactyly, cognitive impairment, renal and cardiac anomalies, hypertension, and diabetes. BBS is genetically heterogeneous, with nine genes identified to date and evidence for additional loci. In this study, we performed mutation analysis of the coding and conserved regions of BBS1, BBS2, BBS4, and BBS6 in 48 French Caucasian individuals. Among the 36 variants identified, 12 were selected and genotyped in 1,943 French-Caucasian case subjects and 1,299 French-Caucasian nonobese nondiabetic control subjects. Variants in BBS2, BBS4, and BBS6 showed evidence of association with common obesity in an age-dependent manner, the BBS2 single nucleotide polymorphism (SNP) being associated with common adult obesity (P = 0.0005) and the BBS4 and BBS6 SNPs being associated with common early-onset childhood obesity (P = 0.0003) and common adult morbid obesity (0.0003 < P < 0.007). The association of the BBS4 rs7178130 variant was found to be supported by transmission disequilibrium testing (P = 0.006). The BBS6 variants also showed nominal evidence of association with quantitative components of the metabolic syndrome (e.g., dyslipidemia, hyperglycemia), a complication previously described in BBS patients. In summary, our preliminary data suggest that variations at BBS genes are associated with risk of common obesity.
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PMID:Bardet-Biedl syndrome gene variants are associated with both childhood and adult common obesity in French Caucasians. 1700 56

Children born with developmental disabilities (DD) are at risk for some common renal manifestations because of their underlying DD. These manifestations include renal stones, hypertension, and recurrent urinary tract infections. Children born with chronic kidney disease (CKD) are at risk for DD because of a myriad of issues related to their CKD, including late identification, malnourishment, and metabolic derangements. This article explores both populations from a nephrologic viewpoint.
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PMID:Nephrologic issues in children with developmental disabilities. 1904 61

The health status of 206 female caregivers supporting adults with intellectual and developmental disabilities at home was investigated using objective (i.e., presence of chronic health conditions and activity limitations) and subjective (i.e., self-perceived health status) health measures compared with those of women in the general population in 2 age groups: middle age (Ages 40-59 years) and older ages (> or =60 years). Prevalence of arthritis, high blood pressure, obesity, and activity limitations for the caregivers in both age groups was significantly higher than that for women in the general population. Middle-age caregivers reported a higher prevalence of diabetes and high blood cholesterol than their age peers from the general population. Despite the potential health challenges, the caregivers generally perceived their health better than that of women in the general population. Older caregivers' perceptions on their psychological well being, however, appeared to an exception. Implications regarding potential health risks for caregivers and residential services for persons with intellectual and developmental disabilities are discussed.
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PMID:Health profile of aging family caregivers supporting adults with intellectual and developmental disabilities at home. 2002 Jul 98


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