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)

The clinical efficacy of piriditol treatment in children with intellectual insufficiency was studied by means of special techniques, determining the velocity of visual information processing (VVIP) and short-time visual memory (SVM), which reflects the functional state of the brain. Piriditol was administered to 50 children aged from 7 to 12 years. The clinical state was characterized as mental retardation, due to mild organic brain lesions or oligophrenia in the form of mild debility. The use of special techniques (VVIP and SVM) for the study of intellectual activity permitted to analyze more differentially the stimulating and sedative effect of piriditol, to detect the new property of the drug, i.e. to remove the processes of fatigue in the brain tissues. A positive effect of the treatment was most marked in children with mental retardation rather than in oligophrenic patients.
 ...
PMID:[Analysis of the effectiveness of treating children with different forms of intellectual deficiency with piriditol]. 49 22

Mental illness affected 23 (33%) of the 69 patients with von Recklinghausen neurofibromatosis (NF-1) who were the primary subjects of this report. Moderately severe or severe mental illness, that is, grade 2 and 3 according to the Comprehensive Psychopathological Rating Scale (CPRS), was found in 15 of the 69 patients (22%). The 23 mentally ill patients did not show any uniform clinical psychiatric syndrome. The most commonly occurring psychiatric diagnoses were depressive syndrome, anxiety state with vegetative dysfunction and organic brain syndrome. There was a significant positive relation between depressive syndrome and organic brain syndrome according to the CPRS rating. Half of the 69 patients complained of mental symptoms in the form of hostile feelings and autonomic disturbances and these were the most frequent psychiatric symptoms; they were also frequent among patients without mental illness. Other common symptoms were sleep difficulties, tiredness, and aches and pains. Among patients with NF-1 there was a significantly positive relation between mental illness and mental retardation, but no significant positive relation between mental illness and physical severity of NF-1. Patients with mental illness also showed a significantly increased frequency of positive neurological findings indicating central nervous manifestations of NF-1.
 ...
PMID:Neurofibromatosis in Gothenburg, Sweden. III. Psychiatric and social aspects. 251 61

Fatigue is usually stated as a major symptom of the depressive condition. Its diagnosis value seems higher in mild depressions, that in severe depressive syndromes. In this later case the symptom is overwhelmed by psychic pain. Contrary to the common viewpoint fatigue does not seem a consequence of sadness and lack of interest. It seems we have to make a distinction between the fatigue related to anxiety and hypochondria and an other kind of fatigue that is the subjective aspect of motor and mental retardation. Its relationships with circadian rhythms and nor-adrenergic transmission are probably the best ways to explore the biological mechanisms.
 ...
PMID:[Fatigue and depression (author's transl)]. 627 8

Structured direct interviews of 43 adults with mental retardation were conducted to evaluate how they express grief and deal with loss. In addition, 100 providers, social workers, and clergy were surveyed to assess their views of how adults with mental retardation cope and respond during a grief situation. Adults with moderate to severe mental retardation display grief responses similar to all adults: a mixture of sadness, anger, anxiety, confusion, and pain. Individuals continue to experience emotional turmoil 1 year beyond the initial death and personal loss. Caregivers and professionals were mixed on how long a grief reaction continues before it can be viewed as dysfunctional. Intense behaviors, such as self-injury, were noted by respondents in 10-15% of grief reactions. Ability to "feel" or display emotional behavior during grief is not contingent only on a conceptual level. Common reactions include a depressive response (crying, fatigue, sleep disruption, loss of appetite) of moderate intensity. Adults with significant mental retardation verbalized an understanding of the irreversibility of death, and their responses reflect personal beliefs as well. An unknown group of these adults may have been exhibiting a depressive disorder.
 ...
PMID:Grief in adults with mental retardation: preliminary findings. 821 Jun 8

We present a patient with external ophthalmoplegia, bilateral ptosis, progressive muscle weakness with "ragged-red fibres" and mental retardation. Mitochondrial DNA analysis by Southern blot revealed heteroplasmy in muscle for a 7.4 kb deletion. In white blood cells, the deletion was only detectable by PCR. There was no evidence for duplications, nor for multiple deletions in the proband or siblings. PCR analysis did not reveal the presence of a mitochondrial DNA defect in the parents and siblings. Thus, there is no experimental support for a maternally inherited mitochondrial DNA deletion. We consider this a sporadic case with a de novo deletion. Diabetes and complaints of fatigue, also seen in this family, are probably coincidental. Mental retardation has been reported occasionally in patients with mitochondrial deletions, but is not common.
 ...
PMID:A novel 7.4 kb mitochondrial deletion in a patient with congenital progressive external ophthalmoplegia, muscle weakness and mental retardation. 1054 1

Table salt can now be fortified with iodine and iron without interaction and without loss of potency. According to Levente Diosady, professor of Food Engineering at the University of Toronto, the amounts of the two micronutrients available to the human body have been significantly reduced when the two interacted. In the new technology, the iodine is covered with a dextrin (a water soluble starch) capsule that serves as a physical barrier to the iron. Micronutrient Initiative (an international secretariat based at IDRC that works to eliminate health problems resulting from iron, iodine, and vitamin A deficiencies) and IDRC supported the development of the technology. The efficiency of absorption of the two micronutrients in the new double fortified salt in the human body is being tested at the Hospital for Sick Children in Toronto. Later testing will be conducted by University of Ghana scientists in IDRC-funded trials that will focus on women and their families in areas of Ghana where these deficiencies are endemic. Iodine is part of thyroid hormone, which contributes to brain development in the fetus and regulates human metabolism; iodine deficiency is the most frequent cause of preventable mental retardation. Related disorders include lethargy, physical disabilities, goiter, stillbirth, and neonatal death. Iron deficiency, the most common nutritional problem in the world (particularly among women, infants, and children), is associated with anemia, fatigue, learning problems, pregnancy complications, premature births, and maternal mortality. The two deficiencies together affect more than one-third of the world's population. Approximately 1.6 billion people, in more than 100 countries, live in areas where iodine is not available in sufficient amounts; those most at risk include about one-third of China's population. It is also a severe problem in the Himalayas, the Andes, India, and West Africa.
 ...
PMID:Micronutrient deficiencies. Reports from the field -- Africa. 1229 Mar 27

This article will propose that humans have an adaptive vulnerability to certain forms of mental retardation, specifically, neuropathological disorders that cause decreased energy expenditure in the hippocampus and the cerebral cortex. This hypothesis will be analyzed in terms of the thrifty phenotype paradigm according to which adverse prenatal events can cause differential gene expression resulting in a phenotype that is better suited, metabolically, for a deprived environment. For example, a malnourished mother has an increased propensity to give birth to offspring that feature a "thrifty phenotype" which permits highly efficient calorie utilization, increased fat deposition and a sedentary nature. This article interprets several prenatal occurrences, including maternal malnourishment, low birth weight, multiparity, short birth interval, advanced maternal age and maternal stress--which are currently identified by the epidemiological literature as risk factors for neuropathology--to be environmental cues that communicate to the fetus that, because it will be neglected of maternal investment, developing a metabolically conservative brain will be the most effective ecological strategy. Success in hunting and foraging in mammals, primates and especially humans is known to be dependent on prolonged maternal investment. Low levels of maternal care are known to result in low survivorship of offspring, largely because the offspring are forced to subsist using simple, low-yield foraging strategies. A predictive, adaptive response, marked by cerebral hypometabolism, may produce a level of metabolic conservancy that mitigates the risks associated with low levels of maternal care. This article will suggest that certain, human neuropathological phenotypes would have been well suited for an ecological niche that closely resembled the less skill-intensive niche of our less encephalized, primate ancestors. The forms of congenital neuropathology discussed in this article do not cause damage to vital homeostatic systems; most simply decrease the size and energy expenditure of the cerebral cortex and the hippocampus, the two structures known to show plasticity during changes in ecological rigor in vertebrates. Also, many disorders that present comorbidly with neuropathology, such as tendency toward obesity, decrement in anabolic hormones, hypotonic musculature, up-regulation of the hypothalamic-pituitary-adrenal axis, and decreased thyroid output are associated with energy conservancy and the thrifty phenotype, further implicating neuropathology in an ecological strategy. Determining the relative impact of evolutionary causation on neuropathological disease should prove informative for medical and gene therapeutic treatment modalities. Furthermore, use of the maternal deprivation paradigm presented here may help researchers more precisely identify the risk factors that determine cognitive trajectory.
 ...
PMID:Evolutionary neuropathology & congenital mental retardation: environmental cues predictive of maternal deprivation influence the fetus to minimize cerebral metabolism in order to express bioenergetic thrift. 1664 41

This study investigated the changes in ambulatory function in individuals with spastic diplegia from 6 (the age at which children start going to elementary school in Japan) to 18 years of age (the age at which children leave high school) in Shiga Prefecture. Sixty-two patients with spastic diplegia (19-28 years of age, born between 1977 and 1986) were studied. Ambulatory function at 18 years of age was compared with that at 6 years of age. Ambulatory ability tended to improve up to 9 years of age, and was maintained at its optimal level between the age of 9 and 11. In some patients, ambulatory function decreased thereafter. Of 62 patients, 43 (69%) attained unaided ambulation, and 48 (77%) could walk with or without the use of crutches by the age of 18. Those who could walk unaided at the age of 6 years (39 of 62; 63%) maintained independent ambulation at the age of 18 years, although some complained of pain and/or fatigue. Employment at 18 years of age was limited to individuals who could walk with or without crutches. Of two wheelchair-bound patients, one went on to study at the university level and the other went on to a special school. When children with spastic diplegia reached age 18, their career course correlated with the degree of mental retardation. Individuals without mental retardation were employed or went on to higher education.
 ...
PMID:[A follow up study of spastic diplegia in Shiga Prefecture--ambulatory function and career course after school age]. 1802 63

Gaucher disease is a recessively inherited lysosomal storage disorder, caused by deficiency of glucocerebrosidase activity. Affected individuals usually present with hepatosplenomegaly, anaemia, thrombocytopenia, and skeletal diseases. A wide range of neurological manifestations have also been recognized in Gaucher patients including acute neurological deterioration in infancy, mental retardation, ocular motor apraxia, seizure, and parkinsonism. Although muscle weakness is not an uncommon finding in patients with Gaucher disease, the aetiology of weakness is not well understood. We prospectively investigated seven Gaucher patients and found that four of them (patients 1-4) had mild to moderate degree of proximal-predominant symmetrical muscle weakness in four limbs. By history, three patients (patients 1-3) developed insidious onset of nonprogressive muscle weakness in four limbs with easy muscle fatigue from adolescence. A needle electromyographic study detected some small, brief polyphasic waves in these four patients. Muscle biopsy in one patient (patient 1) showed a few atrophic type II muscle fibres without infiltration of Gaucher cells. Three patients (patients 1-3) continuously received enzyme replacement therapy with imiglucerase and their muscle strength seemed improved after two years. We concluded that Gaucher disease may be associated with myopathy.
...
PMID:Myopathy in Gaucher disease. 1819 73

This study examined fatigue profile during intermittent exercise in 10 men with mild to moderate mental retardation (MR) and 10 men without mental retardation (C). They performed 4 x 30s maximal knee extensions and flexions with 1-min rest on an isokinetic dynamometer. Peak torque of flexors (PTFL) and extensors (PTEX), total work (TW), and lactate were measured. Fatigue was calculated as the magnitude of decline (%) in PTFL, PTEX, and TW and as rate of decline (linear slope) in TW from 1st to 4th set. MR had lower PTFL, PTEX, TW, and lactate throughout the protocol than C, while pre-motor time was greater in MR vs. C (p<0.05). MR demonstrated a delayed pattern of reduction in muscular performance. Lower values were observed in MR vs. C in the magnitude of decline for PTEX and TW and the rate of decline for TW. In conclusion, MR exhibit a different fatigue profile during intermittent exercise than C. The lower magnitude and decline rate in neuromuscular performance in MR during intermittent exercise is associated with their lower peak strength, short-term anaerobic capacity, and lactate accumulation. Rehabilitation and sport professionals should consider the differences in fatigue profile when designing intermittent exercise programs for MR.
 ...
PMID:Muscle fatigue during intermittent exercise in individuals with mental retardation. 1991 Jan 57


1 2 Next >>