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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A new case of Johanson-Blizzard's syndrome is reported. It concerns a boy born to consanguineous parents and who died at the age of 10 months from malnutrition. Anal imperforation, alar agenesia, hair anomalies, mental retardation and external pancreatic failure were associated. Neither deafness nor hypothyroidism appeared to be present. Autopsy revealed lipomatous hypoplasia of the exocrine pancreas, hitherto unobserved in this syndrome, and probably responsible for the external pancreatic failure noted in published cases. The variability within a given family of the Johanson-Blizzard malformative syndrome is illustrated by two other cases reported in the anamnesis, one involving a brother who had died earlier with cutaneous aplasia at the fontanella and lacrimal canal malposition and one involving a second cousin who presented with isolated anal imperforation.
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PMID:[Johanson-Blizzard's syndrome: another cause of pancreatic lipomatosis (author's transl)]. 746 79

Our conceptions of how malnutrition endured early in life affects brain development have evolved considerably since the mid-1960s. At that time, it was feared that malnutrition endured during certain sensitive periods in early development would produce irreversible brain damage possibly resulting in mental retardation and an impairment in brain function. We now know that most of the alterations in the growth of various brain structures eventually recover (to some extent), although permanent alterations in the hippocampus and cerebellum remain. However, recent neuropharmacological research has revealed long-lasting, if not permanent, changes in brain neural receptor function resulting from an early episode of malnutrition. These more recent findings indicate that the kinds of behaviors and cognitive functions impaired by malnutrition may be more related to emotional responses to stressful events than to cognitive deficits per se, the age range of vulnerability to these long-term effects of malnutrition may be much greater than we had suspected and the minimal amount of malnutrition (hunger) necessary to produce these long-term alterations is unknown.
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PMID:Malnutrition and the brain: changing concepts, changing concerns. 754 3

Iodine is a trace element present in the human body in minute amounts (15-20 mg in adults, i.e. 0.0285 x 10(-3)% of body weight). The only confirmed function of iodine is to constitute an essential substrate for the synthesis of thyroid hormones, tetraiodothyronine, thyroxine or T4 and triiodothyronine, T3 (1). In thyroxine, iodine is 60% by weight. Thyroid hormones, in turn, play a decisive role in the metabolism of all cells of the organism (2) and in the process of early growth and development of most organs, especially of the brain (3). Brain development in humans occurs from fetal life up to the third postnatal year (4). Consequently, a deficit in iodine and/or in thyroid hormones occurring during this critical period of life will result not only in the slowing down of the metabolic activities of all the cells of the organism but also in irreversible alterations in the development of the brain. The clinical consequence will be mental retardation (5). When the physiological requirements of iodine are not met in a given population, a series of functional and developmental abnormalities occur (Table 1), including thyroid function abnormalities and, when iodine deficiency is severe, endemic goiter and cretinism, endemic mental retardation, decreased fertility rate, increased perinatal death, and infant mortality. These complications, which constitute an hindrance to the development of the affected population, are grouped under the general heading of Iodine Deficiency Disorders, IDD (6). Broad geographic areas exist in which the population is affected by IDD.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Iodine deficiency in Europe. 771 23

Analysis of the data collected from national sampling survey of the mental retarded in 1987 showed: (1) prevalence of mental retardation in China was 12.68/1,000, (2) its causes mainly included hereditary diseases, cerebral diseases, malnutrition, pregnant infection and birth trauma for children and senile dementia for the elderly aged 60 or over, (3) severe mental retardation was mainly caused by cerebral diseases and developmental deformity in the country, and (4) the causes for 40.1% of the mental retarded persons remained unknown. Based on the researches at home and abroad, a series of major preventive measures for mental retardation have been put forward, they included: (1) to promote better birth and better rearing, vaccination, proper nutrition for pregnant mothers and infants, and safety education as focuses in primary prevention, (2) to detect early and timely treat cerebral diseases and nutritional deficiency, to strengthen antenatal diagnosis and early screening for inborn metabolic diseases as secondary prevention, and (3) to strengthen education, behavioral training and psychological rehabilitation, and to provide community-based rehabilitation service for the mental retarded as tertiary prevention.
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PMID:[Preliminary analysis of factors causing mental retardation in China]. 784 93

Following the 1990 World Summit for Children, the annual report of UNICEF detailed progress to the Summit's goals it set for the year 2000. The targets are a 33% reduction in under-5 mortality, halving child malnutrition and maternal mortality rates, and 90% immunization coverage of major childhood diseases. Over 85 states are signed up with national programs to mobilize not only health services but to extend it to schools, media, religious leaders, and businesses. The maternal mortality rate of 1 in 20 in Africa compares with 1 in 3600 in North America; and under-5 mortality rates of 5 in 1000 in Sweden are compared with 300/1000 in Niger. 61 countries are still likely to double their population in the next 35 years, and millions of women have no access to birth control programs. Mental retardation caused by lack of iodine in the diet claims an estimated 6 million victims. There are also the familiar problems created by diarrhea, measles, and bottle feeding. On the other hand, the new UNICEF report, The Progress of Nations, demonstrates that in little more than 1 generation average real incomes have doubled; child death rates have halved; malnutrition has fallen by about 30% (only 1 or 2% of the world's children are affected by visible malnutrition); life expectancy has increased by about 33%; modern contraceptive use by couples has risen from less than 10% to over 50% since 1960; and average family size is declining in almost every country. In just a decade measles immunization coverage of the developing world's children has risen from 20% to 80% saving 3 million young lives a year and preventing 50 million other children from catching a nonfatal dose. Nevertheless, these gains are thwarted by the existence of millions of malnourished and uneducated children whose prospects for future employment are constrained by polio, blindness, deafness, and mental retardation.
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PMID:UNICEF's goals for 2000 AD. 810 79

Human alpha-mannosidosis is a lysosomal storage disorder characterized by mental retardation, dysostosis multiplex, and hepatosplenomegaly. Deficiency of the enzyme leads to accumulation of mannose-rich glycoconjugates in tissues. Zinc sulphate has been shown to stimulate alpha-mannosidase activity in vitro. Oral zinc therapy was attempted on a 4-year-old boy with alpha-mannosidosis for 3 years. After almost 10 years of follow-up on and off zinc therapy, we must conclude that oral zinc does not substantially affect the clinical course of alpha-mannosidosis.
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PMID:Oral zinc therapy in the treatment of alpha-mannosidosis. 835 13

Forty children with the following behavior characteristic were selected by observing the attachment behavior between them and their parents at the time of developmental exam in a 18 months' health checkup. The behavior in question is; 18 month old children scurry away from their parent without looking back on parent's calls and without confirming parent's positions. Then all the examined 978 children including the children who had shown the above scurrying away behavior were prospectively followed until before the entry to school. At age six, 6 children were diagnosed of Mental Retardation, 4 of Pervasive Developmental Disorder, and 28 of Attention-Deficit Hyperactivity Disorder (ADHD). Now these results (especially the relationships between this scurrying away behavior at 18 months and ADHD before the entry to school) were analyzed statistically and discussed, then the next conclusions were derived. 1. This scurrying away behavior, especially the behavior without confirming parent's positions, is significantly related to ADHD before the entry to school. 2. This scurrying away behavior is one of the characteristic behaviors at 18 months in ADHD and corresponds to hyperactivity at 18 months. 3. The conduct of throwing a toy block is one of the behaviors that indicates impulsivity at 18 months, when children are requested to hand over a toy block in the developmental exam. 4. Through behavioral observation, ADHDs before the entry to school are categorized to 3 subtypes by presence or absence of this scurrying away behavior at 18 months or by presence or absence of aggressivity before the entry to school. 5. Among the 3 subtypes, the type with this scurrying away behavior and aggressivity before the entry is most necessary to be treated continuously from early childhood. Because it has impulsivity and speech delay since 18 months and untreatable behavioral problems in day nurseries or kindergartens, and therefore it might have Conduct Disorder or Learning Disorder in the future.
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PMID:[Hyperactivity at 18 months of age and attention-deficit hyperactivity disorder before entry to school--follow up study from 18 months to 6 years]. 908 45

The present survey determined whether articles describing attempts to alter behavior in people with mental retardation and Attention-Deficit/Hyperactivity Disorder (ADHD) (a) reported whether or not participants were receiving medications, (b) evaluated drugs as independent variables, and (c) evaluated (or discussed) interactions between pharmacological and nonpharmacological treatments. All behavior-change articles published from 1991 through 1995 in 10 major journals were evaluated. In contrast to the results of earlier surveys, nearly 40% of studies involving participants with mental retardation provided information about medication. This change appears to represent a significant methodological improvement. Nearly 60% of articles involving persons with ADHD provided information about medication. Studies of drugs were common when participants were people with ADHD, but not when they were people with mental retardation. The psychopharmacology of mental retardation continues to be a small, but important, research area. Studies examining treatment interactions were rare, regardless of participants' characteristics. Given that pharmacological treatments may alter participants' sensitivity to nonpharmacological interventions, further research in this area is sorely needed.
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PMID:Reporting of medication regimen in applied studies of persons with mental retardation and ADHD. 929 27

Deficiency of methylenetetrahydrofolate reductase (MTHFR) is associated with a variable phenotype that includes mental retardation, gait abnormalities, and seizures. Many of the same clinical findings are also seen in patients with Angelman syndrome. We report on a patient with MTHFR deficiency who was initially diagnosed as having Angelman syndrome. This case illustrates that MTHFR deficiency can mimic the phenotype of Angelman syndrome and that MTHFR deficiency should be excluded in patients with manifestations of Angelman syndrome whose molecular studies of chromosome 15 are normal.
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PMID:Methylenetetrahydrofolate reductase deficiency in a patient with phenotypic findings of Angelman syndrome. 960 86

Abnormalities in the muscle dystrophin-glycoprotein complex are implicated in the molecular pathogenesis of various neuromuscular disorders. Weakening of the trans-sarcolemmal linkage between the actin membrane-cytoskeleton and the extracellular matrix appears to trigger destabilization of the muscle cell periphery. In addition to muscular weakness, one-third of patients suffering from Duchenne muscular dystrophy exhibit mental retardation. Since little is known about the pathophysiology of brain abnormalities in these patients, we investigated the fate of the most abundant dystrophin-associated protein, beta-dystroglycan, in the central nervous system. It was found to be present throughout all normal brain regions studied. In contrast, this glycoprotein was greatly reduced in brain microsomes derived from Duchenne specimens, while it is of normal abundance in the brain from the dystrophic animal model mdx. Deficiency in brain beta-dystroglycan might render nervous tissue more susceptible to cellular disturbances and this may result in cognitive impairment in some Duchenne patients.
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PMID:Decreased expression of brain beta-dystroglycan in Duchenne muscular dystrophy but not in the mdx animal model. 970 63


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