Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Pediatric neurologic diseases are often associated with different kinds of sleep disruption (mainly insomnia, less frequently hypersomnia or parasomnias). Due to the key-role of sleep for development, the effort to ameliorate sleep patterns in these children could have important prognostic benefits. Study of sleep architecture and organization in neurologic disorders could lead to a better comprehension of the pathogenesis and a better treatment of the disorders. This article focuses on the following specific neurologic diseases: nocturnal frontal lobe epilepsy and abnormal motor behaviors of epileptic origin, evaluating differential diagnosis with parasomnias; achondroplasia, confirming the crucial role of craniofacial deformity in determining sleep-disordered breathing; neuromuscular diseases, mainly Duchenne's muscular dystrophy and myotonic dystrophy; cerebral palsy, evaluating either the features of sleep architecture and the importance of the respiratory problems associated; headaches, confirming the strict relationships with sleep in terms of neurochemical and neurobehavioral substrates; and finally a review on the effectiveness of melatonin for sleep problems in children with neurologic syndromes and mental retardation, blindness, and epilepsy.
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PMID:Sleep disorders in children with neurologic diseases. 1176 88

Children with Down's syndrome suffer many diseases among which cardiovascular diseases, increased susceptibility to infections, leukemia, endocrine alterations, immune defects, nutritional disturbance and mental retardation have clinical relevance. It has been suggested that the pathogenesis of Down's syndrome involves reactive oxygen species arising from a mutation in gene encoding, which disproportionately elevates superoxide dismutase activity. Reactive oxygen species and total antioxidant capacity were evaluated using two new spectrophotometric methods in a selected group of 40 children with Down's syndrome and in 20 apparently healthy children used as controls. Reactive oxygen species were significantly higher (p <0.05) in children with Down's syndrome than in controls: 452 (+/- 72) U.Carr vs. 270 (+/- 66) U.Carr respectively. Total antioxidant capacity was significantly higher (p <0.05) in controls than in children with Down's syndrome: 380 (+/- 52) micromol hypochlorous acid (HCLO)/ml vs. 281 (+/- 33) micromol HCLO/ml, respectively. In fact, thiol groups (sulfhydryl) were significantly higher (p <0.05) in controls than in children with Down's syndrome: 644 (+/- 78) micromol/l vs. 462 (+/- 54) micromol/l, respectively Our data show how to simply measure chemical indices of oxidative status in serum samples from children with Down's syndrome. We determined the plasmatic activities of reactive oxygen metabolites and oxidative defense molecules. Accumulated macromolecular damage may be one of the causes of some of the abnormalities that are considered part of the syndrome. Therefore, children with Down's syndrome have to cope with a significant prooxidant environment. Oxidative stress causes alterations such as atherosclerosis, early aging, immunological default and neurologic disorders in Down's syndrome patients. The new test available for measuring reactive oxygen species in serum proved to be reliable and useful as an early marker of tissue damage.
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PMID:Reactive oxygen metabolites and prooxidant status in children with Down's syndrome. 1182 51

Epilepsy is among the most common serious neurologic disorders in childhood. Epidemiologic studies over the past few decades have greatly increased current knowledge of the incidence and prognosis of seizures. Newer epidemiologic studies have used population- or community-based cohorts, and careful attention has been given to etiology and specific epilepsy syndromes, the two most important factors affecting prognosis. Risk of epilepsy is highest in patients with an associated serious neurologic abnormality, such as mental retardation or cerebral palsy. More than two thirds of patients with childhood-onset epilepsy ultimately achieve remission. Of those attaining remission on medications, approximately 70% remain seizure free when medications are discontinued. Mortality is increased in patients with epilepsy, but the increased mortality risk in childhood-onset epilepsy is primarily seen in patients with neurologic abnormalities or intractable epilepsy. Although long-term seizure outcomes are generally favorable, childhood-onset epilepsy is associated with adverse long-term psychosocial outcomes, even in patients attaining remission. This review summarizes recent data on the epidemiology and prognosis of pediatric epilepsy.
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PMID:Update on the epidemiology and prognosis of pediatric epilepsy. 1191 62

Electroconvulsive therapy (ECT) is an effective treatment of a variety of serious psychiatric and neurologic disorders. There are infrequent case reports of its use in individuals with mental retardation (MR). We describe 10 patients with MR and complex comorbid psychiatric disorder treated with ECT. Seven patients had an excellent response to treatment. Side effects of treatment were minimal and transitory.
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PMID:ECT: use in individuals with mental retardation. 1192 20

Major achievements made over the last several years have highlighted the important roles of creatine and the creatine kinase reaction in health and disease. Inborn errors of metabolism have been identified in the three main steps involved in creatine metabolism: arginine:glycine amidinotransferase (AGAT), S-adenosyl-L-methionine:N-guanidinoacetate methyltransferase (GAMT), and the creatine transporter. All these diseases are characterized by a lack of creatine and phosphorylcreatine in the brain, and by (severe) mental retardation. Similarly, knockout mice lacking the brain cytosolic and mitochondrial isoenzymes of creatine kinase displayed a slightly increased creatine concentration, but no phosphorylcreatine in the brain. These mice revealed decreased weight gain and reduced life expectancy, disturbed fat metabolism, behavioral abnormalities and impaired learning capacity. Oral creatine supplementation improved the clinical symptoms in both AGAT and GAMT deficiency, but not in creatine transporter deficiency. In addition, creatine supplementation displayed neuroprotective effects in several animal models of neurological disease, such as Huntington's disease, Parkinson's disease, or amyotrophic lateral sclerosis. All these findings pinpoint to a close correlation between the functional capacity of the creatine kinase/phosphorylcreatine/creatine system and proper brain function. They also offer a starting-point for novel means of delaying neurodegenerative disease, and/or for strengthening memory function and intellectual capabilities.Finally, creatine biosynthesis has been postulated as a major effector of homocysteine concentration in the plasma, which has been identified as an independent graded risk factor for atherosclerotic disease. By decreasing homocysteine production, oral creatine supplementation may, thus, also lower the risk for developing, e.g., coronary heart disease or cerebrovascular disease. Although compelling, these results require further confirmation in clinical studies in humans, together with a thorough evaluation of the safety of oral creatine supplementation.
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PMID:Health implications of creatine: can oral creatine supplementation protect against neurological and atherosclerotic disease? 1204 43

Mucolipidosis Type IV (MLIV) is a lysosomal storage disorder that is characterized by severe neurologic and ophthalmologic abnormalities. It is a progressive disease that usually presents during the first year of life with mental retardation, corneal opacities, and delayed motor milestones. First described in 1974, MLIV is a rare autosomal recessive disease and the majority of patients diagnosed to date are of Ashkenazi Jewish descent. MLIV was originally classified as a lysosomal storage disorder due to the abnormal accumulation of mucopolysaccharides and lipids. Extensive studies in MLIV cells, however, have shown that the abnormal storage is due to a defect in the late endocytic pathway. Positional cloning led to the recent discovery of a novel gene on human chromosome 19, MCOLN1, that is mutated in MLIV. To date 14 independent mutations have been reported in MCOLN1, with two mutations accounting for 95% of the Ashkenazi Jewish MLIV alleles. The identification of the MLIV gene has led to a simple tool for definitive diagnosis and will permit carrier screening in the Ashkenazi Jewish population. MCOLN1 is a new member of the transient receptor potential (TRP) cation channel gene family. The protein encoded by MCOLN1, mucolipin-1, has six predicted transmembrane domains and a putative channel pore. The identification of mutations in MCOLN1 represents the first example of a neurological disease caused by a TRP-related channel. While the function of mucolipin-1 is currently unknown, homology to the TRP superfamily and the recent description of the C. elegans mucolipin-1 homolog allow us to begin to speculate about the role of mucolipin-1 in diverse cellular processes.
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PMID:The molecular basis of mucolipidosis type IV. 1212 10

Absence or deficiency of tear volume (alacrima) is rarely seen in pediatric ophthalmology. It is often a part of the multiple systemic anomalies like Riley-Day syndrome and anhidrotic ectodermal dysplasia, or it may be associated with adrenal gland insufficiency, achalasia, and neurologic disorders like Allgrove's syndrome. We report on a 7-year-old girl presenting alacrima, achalasia, and mental retardation with normal adrenocortical function.
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PMID:Pediatric alacrima, achalasia, and mental retardation. 1218 57

Epilepsy in childhood is often associated with other neurologic disorders, including attention-deficit/hyperactivity disorder, cerebral palsy, and mental retardation. A single pathologic process may explain both epilepsy and these associated disorders. However, in some cases, distinct etiologies may be present. Recognition of these problems is essential, as is individualized treatment. Proper classroom placement; behavior modification, speech, occupational, and physical therapies; pharmacological agents; and even surgical procedures have a role in the management of these comorbid disorders. Diagnostic criteria and therapeutic modalities used in these syndromes will be discussed.
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PMID:Treatment of attention-deficit disorder, cerebral palsy, and mental retardation in epilepsy. 1260 21

Cortical malformations give rise to severe clinical manifestations such as epilepsy and mental retardation, but sometimes to more subtle problems like dyslexia. From a clinical standpoint, such structural abnormalities are diagnosed by radiographic and histologic findings, with disease classifications often based on these observations. Using this categorization, many of the responsible genes have been determined and now provide a means of understanding the molecular basis of the neurologic disorders. This review discusses the known genetic developmental syndromes in the context of the observed cortical malformations, the expression and function of the responsible genes, and their potential roles during the various stages of central nervous system development.
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PMID:Developmental genetic malformations of the cerebral cortex. 1291 87

Clinical disorders of brain plasticity are common in the practice of child neurology. Children have an enhanced capacity for brain plasticity compared to adults as demonstrated by their superior ability to learn a second language or their capacity to recover from brain injuries or radical surgery such as hemispherectomy for epilepsy. Basic mechanisms that support plasticity during development include persistence of neurogenesis in some parts of the brain, elimination of neurons through apoptosis or programmed cell death, postnatal proliferation and pruning of synapses, and activity-dependent refinement of neuronal connections. Brain plasticity in children can be divided into four types: adaptive plasticity that enhances skill development or recovery from brain injury; impaired plasticity associated with cognitive impairment; excessive plasticity leading to maladaptive brain circuits; and plasticity that becomes the brain's 'Achilles' Heel' because makes it vulnerable to injury. A broad group of pediatric neurologic disorders can be understood in terms of their impact on fundamental mechanisms for brain plasticity. These include neurofibromatosis, tuberous sclerosis, Fragile X syndrome, other inherited forms of mental retardation, cretinism, Coffin-Lowry syndrome, lead poisoning, Rett syndrome, epilepsy, hypoxic-ischemic encephalopathy and cerebral palsy.
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PMID:Clinical disorders of brain plasticity. 1503 25


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