Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Comprehensive screening programs to control congenital hypothyroidism (CH), a preventable form of mental retardation, are being considered by some public health agencies. The proposed programs would test neonates' blood for thyroxine and, if warranted, provide follow-up testing and therapy. The estimated cost of detecting a single case of CH is $9,300, which includes specimen collection, laboratory analysis, and retesting of border-line cases. The present value of the treatment costs of CH adds $2,500 per case, a total cost of $11,800 per case detected and child treated. The economic benefits (averted costs of institutionalization and special education and increased productivity of the affected person) are estimated to have a present value of $105,000 per case, yielding a cost-benefit ratio of 1:8.9.
JAMA 1979 May 25
PMID:Congenital hypothyroidism control programs. A cost-benefit analysis. 10 9

To date, a total of eight cases of the Turner-mongolism polysyndrome have been recognized. The clinical manifestations included retarded growth (resulting in a small and infantile appearance), with shield-like chest, poorly developed breasts, absent body hair, brachycephaly, short neck with foldings and low hairline, oblique eyes with epicanthal folds, squat nose, scrotal or normal tongue, abnormal hard palate (high or cleft), short hands and feet, frequent cubitis valgus, normal clitoris (may be either hypoplastic or peniform), mental retardation, and the XO/G+ karyotype, mosaic for XO in most instances. At this time, a single cause for all cases of the double aneuploidy is not known.
JAMA 1975 Nov 24
PMID:Turner-mongolism polysyndrome. Review of the first eight known cases. 12 53

Tyrosine-induced eye and skin lesions in man are an autosomal, recessive, inherited syndrome associated with tyrosinemia, tyrosinuria, and increased urinary excretion of tyrosine metabolites. Patients have mild to severe keratitis and erosive and hyperkeratotic lesions on the palms and soles. The degree of involvement was variable in the small number of patients studied. Mental retardation is frequently a part of the syndrome. A low-tyrosine low-phenylalanine diet lowers blood tyrosine level and leads to healing of the skin and eye lesions. Early dietary treatment may prevent mental retardation.
JAMA 1976 Jul 26
PMID:Tyrosine-induced eye and skin lesions. A treatable genetic disease. 13 41

Institutionalized patients with Down syndrome and matched controls with other causes of mental retardation were tested by immune adherence hemagglutination for the presence of antibody to hepatitis A antigen (anti-HA). Altogether 75.1% (175 of 233) exhibited presence of anti-HA, with no differences by sex or age. Patients reactive for hepatitis B surface antigen (HBsAg) or its antibody (anti-HBs) were reactive for anti-HA significantly more frequently than those with a negative reaction for these markers. In contrast to serologic markers of hepatitis type B, prevalence of anti-HA does not depend on the cause of mental retardation or on the age at primary infection. The rate of anti-HA positivity was found to be closely correlated with duration of institutionalization. The study confirmed that many closed institutions for the mentally retarded are hyperendemic for hepatitis type A and that formation of anti-HA is not greatly affected by either immune deficiency or immune immaturity.
JAMA 1977 Apr 18
PMID:Antibody to hepatitis A antigen in institutionalized mentally retarded patients. 13 79

The increasing number of ampicillin-resistant Haemophilus influenzae recoveries have required a change in the treatment of meningitis due to this organism. Chloramphenicol has been recommended and is an effective though toxic substitute. Streptomycin combined with sulfisoxazole has been as effective as ampicillin in treating H influenzae meningitis. The results of treating 61 children with ampicillin were compared with results of those given streptomycin intramuscularly, in three intrathecal doses with sulfisoxazole intravenously, and by mouth to 50 children. Permanent neurological sequelae, including deafness, mental retardation, and persisting seizures, developed in the six given ampicillin; communic-ting hydrocephalus occurred in one who had been treated with streptomycin and sulfisoxazole. There was no phlebitis, buttocks abscess, or drug eruptions, and treatment was better tolerated in the streptomycin and sulfisoxazole group. This combination is suggested as an effective alternative to ampicillin.
JAMA 1978 Jan 23
PMID:Streptomycin and sulfisoxazole for treatment of Haemophilus influenzae meningitis. 24 31

Studies of the survivors of the atomic bombing of Hiroshima and Nagasaki who were exposed to ionizing radiation in utero have demonstrated a significant increase in perinatal loss and the vulnerability of the developing fetal brain to injury. These studies have also helped to define the stages in the development of the human brain that are particularly susceptible to radiation-related damage. Exposure at critical junctures in development increases the risk of mental retardation, small head size, subsequent seizures, and poor performance on conventional tests of intelligence and in school. The most critical period, 8 through 15 weeks after fertilization, corresponds to that time in development when neuronal production increases and migration of immature neurons to their cortical sites of function occurs. The epidemiologic data are, however, too sparse to settle unequivocally the nature of the dose-response function and, in particular, whether there is or is not a threshold to damage. If a threshold does exist, it appears to be in the 0.10- to 0.20-Gy fetal-dose range in this vulnerable gestational period.
JAMA 1990 Aug 01
PMID:Perinatal loss and neurological abnormalities among children of the atomic bomb. Nagasaki and Hiroshima revisited, 1949 to 1989. 236 4

A recent "Tuberous Sclerosis Research Workshop," held in Cambridge, Massachusetts, under the sponsorship of the National Institute of Neurological and Communicative Disorders and Stroke and the Tuberous Sclerosis Association of America, examined the current state of knowledge about this congenital disorder which frequently results in mental retardation. Workshop participants discussed the controversy over whether diagnostic tests based on the presence of hypomelanotic macules in the skin of newborns are sufficiently reliable to warrant legislated mass screening programs such as the one that will take effect in Massachusetts in June 1986. They also considered the likelihood of developing techniques for the prenatal diagnosis of the disorder in the future.
JAMA 1984 Jun 15
PMID:Early diagnosis, genetic marker sought for tuberous sclerosis. 658 29

Prenatal exposure to oral anticoagulants during pregnancy may result in defective fetal development or life-threatening hemorrhage. Fetal exposure during the first eight weeks of pregnancy may cause abnormal development of the facial structures, hypoplastic digits, strippled epiphyses, and mental retardation. Midtrimester exposure may result in optic atrophy, faulty brain growth, and developmental retardation. Third-trimester exposure may produce fetal anticoagulation, predisposing the infant to life-threatening hemorrhage in the perinatal period. Anticoagulation with heparin sodium does not provide a clearly safe alternative, since this therapy has been associated with excessive fetal loss.
JAMA 1980 Apr 18
PMID:Hazards of oral anticoagulants during pregnancy. 735 39

Fragile X syndrome is a common cause of mental retardation that is inherited as an X-linked dominant disorder with reduced penetrance. Fragile X syndrome has been shown to be caused by an unstable CGG repeat within the fragile X mental retardation-1 (FMR1) gene. The repeat is normally polymorphic with six to 52 repeats, while affected males and females exhibit a massive expansion resulting in 230 to more than 1000 repeats. Such expansions, called "full mutations," are associated with abnormal methylation of the FMR1 gene leading to transcriptional suppression. The resulting absence of the encoded protein, FMRP, a cytosolic RNA-binding protein, is believed to result in the phenotype. Nonpenetrant male carriers and many female carriers exhibit premutation alleles of intermediate length (50 to 230 repeats), which are normally expressed. Male carriers transmit only unstable premutations while female premutation carriers can have carrier offspring with premutations or affected children with full mutations. The risk of having an affected child is directly related to the number of maternal repeats, with sequentially increasing probabilities of these alleles converting to full mutations as they are transmitted to subsequent generations. Advances have led to highly accurate laboratory diagnoses of both carrier and affected individuals as well as markedly improved prenatal diagnosis. In addition, a previously unrecognized class of mutation, later found responsible for several other important genetic diseases, has emerged.
JAMA 1994 Feb 16
PMID:Advances in molecular analysis of fragile X syndrome. 830 72

During the past three years, we have conducted fragile X DNA studies for carrier screening and prenatal diagnosis using a previously described PCR protocol that accurately resolves normal FMR1 alleles and premutations and detects most full mutations [Brown et al., JAMA 270:1569-1575, 1996]. A total of 344 pregnant women with a family history of mental retardation of unknown cause were screened and 6 fragile X carriers were identified: two had full mutations, and four had premutations. The mentally retarded relatives of two other women were found to be fragile X positive although the women themselves were not carriers. In all, 6 carriers and 8 fragile X families were identified by this screening. We have also screened 40 pregnant women who were members of previously identified fragile X families, but whose carrier status was unknown. Ten were found to be carriers and were offered prenatal diagnosis. Prospective prenatal testing of 84 carrier women correctly detected 31 fetal samples (19 females, 12 males) with full mutations and 6 with premutations (2 females, 4 males). No false positives but one false negative occurred early on due to undetected maternal cell contamination. In addition, screening of 806 males with developmental delays of unknown cause gave positive results in 33 (4.1%). Potential problems and pitfalls of direct DNA testing are discussed. Because of the proven success of fragile X screening with direct molecular analysis, screening of all undiagnosed individuals with mental retardation and at risk pregnant women should now be considered. The identification of fragile X carriers and prenatal diagnosis of their pregnancies should significantly reduce the prevalence of this syndrome.
 ...
PMID:Prenatal diagnosis and carrier screening for fragile X by PCR. 882 74


1 2 Next >>