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

We studied recurrence risks and predictive factors of relapse after antiepileptic drug (AED) discontinuation in a prospective analysis of 425 children with epilepsy who had not had a seizure for at least 2 years (follow-up after withdrawal 1.6-12 years, mean 8 years). Factors closely related by multivariate analysis to relapse were neurologic abnormalities, mental retardation, seizure type (infantile spasms, absence seizures), and appearance or persistence of EEG abnormalities during the course of the illness and before discontinuation. When multivariate analysis was performed to evaluate outcome of patients with a first relapse (isolated vs. multiple relapses), the variables closely related to a poor prognosis were etiologic factors, first relapse characterized by more than one seizure in a 24-h period, seizure-free period less than 4 years, unchanged seizure type at first relapse, more than one AED for seizure control, and abnormal EEG before the first relapse. In itself, resumption of therapy did not influence outcome. At the study cutoff point, 88% of patients with relapse were again seizure-free. We conclude that AEDs can safely be discontinued if predictive factors are considered to individualize the risk of relapse for each patient.
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PMID:Outcome after discontinuation of antiepileptic drug therapy in children with epilepsy. 279 33

The authors evaluated the presence of assaultive behavior in 103 children, aged 6-12 years, seen in the psychiatric inpatient and outpatient services of a municipal hospital. No racial or ethnic differences were found. Boys were significantly more assaultive than girls and used fire setting and hitting with objects more often. Inpatients were significantly more assaultive than outpatients. Children with conduct disorders, specific developmental disorders, and mental retardation were more assaultive than those with neurotic disorders. Multiple regression analysis showed that the child's past aggressive behavior, absence of anxiety and depression, and parental assaultive behavior were the best predictors of assaultive behavior.
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PMID:Predictors of assaultiveness in latency age children. 618 81

Thirty-four children (ages 6-12 years) with moderate to borderline mental retardation were studied in a laboratory classroom setting to determine whether children identified as having attention deficit hyperactivity disorder on the basis of Conners Questionnaires differed in classroom behavior. Half of the children scored 15 or greater on both the Parent and Teacher Conners; the remaining children scored 11 or less. All were participants in a Saturday Education Program serving children with mental retardation. Direct observation of the laboratory classroom documented significant differences between groups on measures of on-task behavior and fidgetiness, especially during situations where little direct teacher feedback or supervision was available. Saturday Education Program staff, while blind as to group designation, rated the two groups as differing significantly on all scales of two standardized behavior problem checklists. Checklists by parents and teachers appear to be valid measures of classroom behavior of children with moderate to borderline mental retardation.
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PMID:Classroom behavior and children with mental retardation: comparison of children with and without ADHD. 806 33

To begin to study the importance of dopamine for executive function abilities dependent on prefrontal cortex during early childhood, the present investigation studied children in whom we predicted reduced dopamine in prefrontal cortex but otherwise normal brains. These are children treated early and continuously for the metabolic disorder phenylketonuria (PKU). Untreated PKU is the most common biochemical cause of mental retardation. The root problem is an inability to convert one amino acid, phenylalanine (Phe), into another, tyrosine (Tyr), the precursor of dopamine. Phe levels in the bloodstream soar; Tyr levels fall. Treatment with a diet low in Phe reduces the Phe:Tyr imbalance but cannot eliminate it. We hypothesized that the resultant modest elevation in the ratio of Phe to Tyr in the blood, which results in slightly less Tyr reaching the brain, uniquely affects the cognitive functions dependent on prefrontal cortex because of the special sensitivity of prefrontally projecting dopamine neurons to small decreases in Tyr. In a 4-year longitudinal study, we found that PKU children whose plasma Phe levels were three to five times normal (6-10 mg/dl) performed worse than other PKU children with lower Phe levels, matched controls, their own siblings, and children from the general population on tasks that required the working memory and inhibitory control abilities dependent on dorsolateral prefrontal cortex. The impairment was as evident in our oldest age range (3 1/2-7 years) as it was in the youngest (6-12 months). The higher a child's Phe level, the worse that child's performance. Girls were more adversely affected than boys. The deficit appears to be selective, affecting principally one neural system, since even PKU children with Phe levels three to five times normal performed well on the 13 control tasks. Clinical implications for the treatment of PKU and other neurodevelopmental disorders are discussed.
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PMID:Prefrontal cortex cognitive deficits in children treated early and continuously for PKU. 942 21

Attention deficit hyperactivity disorder (ADHD) is a highly heritable, common psychiatric disorder that presents in childhood and that probably involves several genes. There are several lines of evidence suggesting that the nicotinic system may be functionally significant in ADHD: (a) nicotine promotes the release of dopamine and has been shown to improve attention in adults with ADHD, smokers and non-smokers; (b) ADHD is a significant risk factor for early initiation of cigarette smoking in children; (c) maternal cigarette smoking appears to be a risk factor for ADHD; (d) animal studies in rats and monkeys also suggest that nicotine may be involved in attentional systems and locomotor activity; and (e) a central nicotinic agonist, ABT-418, improves attention in both monkeys and ADHD adults. The current study examined the alpha 4 receptor, one of the sites of action of ABT-418. A known Cfol polymorphism within the nicotinic acetylcholine alpha 4 receptor gene, CHRNA4, was studied in 70 ADHD parent-proband trios from an ongoing sample collection of children aged 6-12 with ADHD, according to DSM-IV criteria. Children with known major medical or psychiatric conditions or mental retardation (IQ < 70) were excluded from the study. The Transmission Disequilibrium Test demonstrated no evidence that variation at the nicotinic acetylcholine alpha 4 receptor Cfol polymorphism influences susceptibility to ADHD (P > 0.35). The continuing sample collection will enable further study of other potential nicotinic system polymorphisms in ADHD in more powerful samples.
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PMID:Nicotinic acetylcholine receptor alpha4 subunit gene polymorphism and attention deficit hyperactivity disorder. 1140 98

Progressive muscular dystrophy may produce abnormal reactions to several drugs. There is no consensus of opinion regarding the continuous infusion of propofol in patients with progressive muscular dystrophy. We successfully treated 2 patients with progressive muscular dystrophy who were anesthetized with a continuous infusion of propofol. In case 1, a 19-year-old, 59-kg man with Becker muscular dystrophy and mental retardation was scheduled for dental treatment under general anesthesia. General anesthesia was maintained by a continuous infusion of 6-10 mg/kg propofol per hour and an inhalational mixture of 67% nitrous oxide and 33% oxygen. No complications were observed during or after the operation. In case 2, a 5-year-old, 11-kg boy with Fukuyama type congenital muscular dystrophy and slight mental retardation was scheduled for dental treatment under general anesthesia. General anesthesia was maintained with a continuous infusion of 6-12 mg/kg propofol per hour and an inhalational mixture of 0.5-1.5% sevoflurane in 67% nitrous oxide and 33% oxygen. No complications were observed during or after the operation. It is speculated that a continuous infusion of propofol in progressive muscular dystrophy does not cause malignant hyperthermia because serum levels of creatine phosphokinase and myoglobin decreased after our anesthetic management. Furthermore, our observations suggest that sevoflurane may have some advantages in patients with progressive type muscular dystrophies other than Duchenne muscular dystrophy and Becker muscular dystrophy. In conclusion, our cases suggest that a continuous infusion of propofol for the patients with progressive muscular dystrophy is a safe component of our anesthetic strategy.
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PMID:Continuous infusion propofol general anesthesia for dental treatment in patients with progressive muscular dystrophy. 1585 43

Synaptic function and plasticity were studied in mice lacking the fragile X mental retardation protein (FMRP), a model for the fragile X mental retardation syndrome. Associational connections were studied in slices of anterior piriform (olfactory) cortex, and Schaffer-commissural synapses were studied in slices of hippocampus. Knock-out (KO) mice lacking FMRP were compared with congenic C57BL/6J wild-type (WT) controls. Input-output curves and paired-pulse plasticity were not significantly altered in KO compared with WT mice in either the olfactory cortex or hippocampus. Long-term potentiation (LTP) induced by theta burst stimulation in the anterior piriform cortex was normal in KO mice aged < 6 months but was impaired in KO mice aged > 6 months. The deficit in LTP was significant in mice aged 6-12 months and more pronounced in mice aged 12-18 months. Similar differences between WT and KO mice were seen whether LTP was induced in the presence or absence of a GABAA receptor blocker. Postsynaptic responses to patterned burst stimulation in KO mice showing impaired LTP were not significantly different from those in WT mice, suggesting that the LTP deficit was not caused by alterations in circuit properties. No differences in hippocampal LTP were observed in WT and KO mice at any ages. The results indicate that FMRP deficiency is associated with an age-dependent and region-selective impairment in long-term synaptic plasticity.
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PMID:Age-dependent and selective impairment of long-term potentiation in the anterior piriform cortex of mice lacking the fragile X mental retardation protein. 1622 56

Facial port-wine stains are capillary malformations, which can reveal, very rarely, Sturge-Weber syndrome (SWS). SWS is a severe neurocutaneous syndrome, which involves a facial port-wine stain reaching the first branch of trigeminal nerve (V1), ophthalmologic abnormalities (especially congenital glaucoma) and neurologic signs (seizure, mental retardation, hemiparesis). Neuroimaging (CT-scan/angio-magnetic resonance imaging [MRI]) provides the diagnosis of SWS, when it shows ipsilateral leptomeningeal angioma; the best age to perform the exam is not established. Extension to superior eyelid, to other territories of trigeminal nerve (V2, V3) or to the contralateral hemiface is statistically associated to SWS. When a new-born has a facial port-wine stain reaching V1, ophthalmologic examination must be performed in the first months of life, as well as neuroimaging (at the age of 6-12 months, earlier in case of neurologic signs); a treatment of the port-wine stain by pulsed dye laser must also be considered.
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PMID:[Sturge-Weber syndrome]. 2021 18