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)

The efficacy and safety of topiramate in patients with intractable mixed seizures, mental retardation (MR), and developmental disabilities (DD) were investigated. Twenty patients (eight females and 12 males) aged 21-57 years old with intractable epilepsy with mixed seizures, MR [profound (five), severe (three), moderate (two), mild (eight) and borderline (two)], and DD were treated with adjunctive topiramate 25 mg per day for 1 week followed by titration to clinical response (range 50-350 mg per day). Other antiepileptic drugs (AEDs) were decreased simultaneously. Topiramate therapy was discontinued in four patients for adverse events consisting of disorientation, unsteadiness, and pneumonia (one patient); anaphylactic shock from a tuna fish allergy (one); patient choice (one); and loss to follow-up (one). Seizures improved by gt-or-equal, slanted 50% in 11 of 16 patients (69%). Two patients (13%) were seizure free, including one patient who prior to topiramate therapy was seizure free but experiencing an intolerable adverse effect during therapy with another AED. Seizure duration and/or severity decreased in seven patients (44%). An increase in alertness was observed in 11 patients (59%). Topiramate was associated with improvement in seizure severity and alertness in this series and may be useful as adjunctive therapy in patients with mixed seizures, MR, and DD.
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PMID:Role of topiramate in adults with intractable epilepsy, mental retardation, and developmental disabilities. 1188 60

Self-injurious behaviour (SIB), most notably skin picking, has been described by various terms in the literature ranging from neurotic/psychogenic excoriations to compulsive/pathological skin picking. Prader-Willi Syndrome (PWS) is a neurogenetic multisystem disorder characterized by infantile hypotonia, mental retardation, short stature, hypogonadism, dysmorphic features, and hyperphagia with a high risk of obesity. Psychiatric manifestations include SIBs in the form of skin picking, nail biting and rectal gouging. Topiramate is a novel anti-epileptic medication without significant liability of weight gain. There are no published reports of topiramate being utilized in PWS or SIB. We report attenuation of SIB with resultant lesion healing in three PWS adults treated with topiramate in an 8-wk open-label trial. Although our findings should be treated with caution, they suggest that double-blind or cross-over studies with topiramate are warranted to establish the possible role of topiramate in attenuating SIB in PWS and other disorders that involve SIB.
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PMID:Topiramate attenuates self-injurious behaviour in Prader-Willi Syndrome. 1213 38

The Lennox-Gastaut Syndrome (LGS) is a childhood epileptic encephalopathy. Incidence: 1/1.000.000/year, prevalence: 15/100.000. LGS covers 5-10% of epileptic patients and 1-2% of childhood epilepsies. Also referred to as cryptogenic or symptomatic generalized epilepsy. LGS is characterized by: multiple seizures (atypical absences, axial tonic seizures and sudden atonic or myoclonic falls), diffuse slow cryptic EEG waves when awake (<3 Hz), fast rhythmic peaks (10 Hz) during sleep, mental retardation and personality disorders. The LGS is not responding to treatment. Some new drugs have proven to be effective in controlling the disease (Felbamate, Lamotrigine, Topiramate, Levetiracetam). The mortality rate is about 5%; only rarely death is due to epilepsy, which is usually caused by stroke or epileptic episodes. Here we describe the case of a 45-year-old female patient with LGS, severe hypokalemia, mental retardation and focal seizures. Normal renal function: creatinine 0.9 mg/dl, urea 26 mg/dl, creatinine clearance 96 ml/min, serum potassium levels to the minimum: 3.5 mEq/L. This level of potassium, however, had been achieved with the assumption of 8 oral tablets/day of potassium chloride. Osmotic diuresis, use of diuretics, Bartter, Gitelman (normal urinary calcium and magnesium) and pseudo-Bartter syndromes were all excluded whereas aldosteronism was found. Our findings lead to hypokalemia related to assumption of topiramate and hyperaldosteronism. Reduction in drug intake was not effective due to the increased seizures, so the drug was maintained, along with potassium supplementation. In conclusion, the patient has been diagnosed with hypokalemia and iatrogenic hyperaldosteronism, rare in our outpatient practice.
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PMID:[Hypokalemia in Lennox-Gastaut syndrome]. 2609 33