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Query: UMLS:C0025362 (mental retardation)
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The studies included 64 children with newly diagnosed epilepsy, aged from 6 to 15 years of life. In 25 children with partial and secondary generalized seizures monotherapy with carbamazepine was introduced; in 19 children with primary generalized seizures--with phenobarbital, and in patients with both types of seizures--with primidone. Monotherapy was controlled by means of blood serum drug concentration level monitoring; the therapy was successful in all the children. The group did not include patients with mental retardation, and epilepsy was idiopathic. Prior to the institution of treatment, a single determination of blood serum triiodothyronine, thyroxine, TSH, prolactin, cortisol, LH and testosterone was made. Psychological test were carried out employing Wechsler's scale, Bender-Santucci test, rhythmic structures developed by Mira Stambak and test of manual dexterity (card display). In order to evaluate short-term effects of the employed drugs upon the blood serum concentration values of the studied hormones, a repeated determination was made one month after the initiation of therapy. The third determination was made one year after the onset of treatment in order to assess the long-term effects. The effect of drugs upon their cognitive functions was assessed in a follow-up psychological testing performed after one year of therapy. The studies combined with statistical analysis led to a conclusion that after one month of monotherapy there occurred a significant drop in thyroxine concentration levels, still augmented after one year. Patients treated with carbamazepine showed a significant decrease of T3 levels after one month and one year, whereas treatment with phenobarbital and primidone did not result in significant changes of T3 concentration. Yet, T3 and T4 concentration values did not exceed normal limits. No type of monotherapy resulted in significant long-term changes of TSH concentration levels. No clinical signs of hypothyroidism nor goiter were observed in the studied children. After one month of monotherapy with carbamazepine and phenobarbital there was observed a significant increase of prolactin and cortisol levels, which was absent after one year. The values observed did lie within normal limits. No significant changes were observed with respect to the effect of the studied drugs upon blood serum LH and testosterone levels. After a one-year monotherapy with primidone the children revealed a significant improvement of results measured on performance scale and by means of a full Wechsler scale. Carbamazepine and phenobarbital did not affect the intelligence quotient of the studied children.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:[The effect of monotherapy on concentration of selected blood serum hormones and upon cognitive function of children with epilepsy]. 134 59

Fifty-four consecutively referred patients with uncontrolled epilepsy were subjected to Therapeutic Drug Monitoring on an out patient basis. Regular 2 weekly follow up for a minimum period of 2 months was done, after altering the drug dosage and bringing plasma level(s) within therapeutic range. Plasma levels of Phenobarbitone, Phenytoin and Carbamezepine were done by High Pressure Liquid Chromatography. Eventually, 24 patients were controlled and 30 remained uncontrolled. Significant differences between these 2 groups were found, as regards, duration of epilepsy (p < 0.01), associated mental retardation (p < 0.02), initial carbamazepine dosage and plasma levels in patients on carbamazepine montherapy (p < 0.02 and P < 0.01, respectively) and final phenytoin plasma levels in patients on combined therapy with phenobarbitone and phenytoin (p < 0.05). This study emphasizes the importance of early diagnosis and treatment of epilepsy with the help of plasma level monitoring of anti-epileptic drugs.
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PMID:"An analysis of epileptic patients nonresponsive to drugs". 148 24

Although this article focuses on psychopharmacology, pharmacotherapy is only part of a comprehensive treatment program. Treatment should be individualized to the patient's condition and level of intellectual functioning (e.g., conduct disorder, mental retardation). Clinicians should be acquainted with the Food and Drug Administration's regulations and the Physician's Desk Reference's guidelines. Psychoactive agents should be prescribed judiciously under careful clinical and laboratory monitoring, especially when given on a long-term basis. Knowledge of potential short- and long-term side effects is imperative to minimize impairment (cognitive, sedation) and to maximize achievement of adaptive behaviors. Aggressiveness is a low-frequency behavior and therefore difficult to assess. Aggressiveness with an explosive affective component and rage seems to be more responsive to pharmacotherapy than aggressiveness alone. Children who present with covert conduct disorder symptoms, such as stealing and lying, might not be as responsive to psychoactive agents as the conduct disorder with explosive characteristics. The neuroleptics are considered the standard drugs for the treatment of aggression but sedation and concern over tardive dyskinesia have led investigators to explore and study other classes of drugs. Lithium carbonate has been studied in short-term clinical trials and has been shown to be an effective alternative to the neuroleptics. Carbamazepine and propranolol seem to be promising agents but require further critical assessment in children and adolescents. Stimulants should be considered the first choice of treatment in coexisting conduct disorder and ADHD or in milder forms of aggression. In conclusion, there is a need for systematic investigation of the effectiveness and safety of psychoactive agents in children and adolescents with aggressiveness, explosiveness, and rage outbursts. There is some supportive evidence that some patients with these target symptoms are good responders to certain drugs. Future research should compare pharmacotherapy to psychosocial treatment and the combination of both.
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PMID:The pharmacologic treatment of conduct disorders and rage outbursts. 154 49

Carbamazepine-induced hyponatremia has been reported in 21.7% of 61 patients with mental retardation who received the medication for a variety of reasons. We studied 40 patients with mental retardation receiving carbamazepine to determine the prevalence of hyponatremia. Overall, hyponatremia was found in only 5.0% of these patients. Correlations with sodium level and carbamazepine dose, serum drug level, and concomitant neuroleptic and anticonvulsant polytherapy were also examined. Treatment with carbamazepine resulted in a statistically, but not clinically, significant decrease in serum sodium levels in patients receiving anticonvulsant polytherapy. Decreases in serum sodium were not related to carbamazepine dose or blood levels. Only one patient with underlying schizophrenia and psychogenic polydipsia demonstrated clinically significant hyponatremia during carbamazepine therapy.
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PMID:Carbamazepine-induced hyponatremia in patients with mental retardation. 156 11

We describe five patients with Schwartz-Jampel syndrome (SJS) examined at the outpatient service for neuromuscular disorders at our Institution from 1996 to 1999 with the objective of emphasizing the characteristic dysmorphic phenotype of SJS and its different clinical forms. Two cases presented SJS-type 1A, two had SJS-type 1B and one manifested SJS-type 2. Two boys with 3 and 13 years of age had generalized stiffness and the characteristic facial as well as osteoarticular changes from birth. Other two boys with 11 and 7 years had less marked dysmorphic changes at birth and manifested myotonia, as a limiting factor, during the second year of age. A girl with two months of age had severe myotonia from birth leading to feeding difficulties. In all cases the diagnosis was based on dysmorphic features, and on electromyographic changes showing continuous electrical activity of muscle fibers. All were treated with carbamazepine, 20-30 mg/Kg since diagnosis. The four boys (all with normal intelligence) improved of myotonia in daily activities, markedly in three, and moderately in one. The girl did not improve and showed global development delay: by the last follow-up (at 20 months of age) she did not sit unsupported, and had mental retardation. Carbamazepine in SJS-type 1 improves general daily performance and psychological status of the patients.
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PMID:Schwartz-Jampel syndrome: report of five cases. 1236 40

Selecting a specific antiepileptic drug for the treatment of seizures in those with mental retardation requires a balance of the drug's likely efficacy for both seizures and comorbid disorders versus adverse events. Phenobarbital is the most commonly used of the barbiturate drugs. Phenytoin is actually one of the best tolerated AEDs (side effects in most patients are signs of neurotoxicity). Carbamazepine is the drug of choice for many neurologists for the treatment of partial epilepsy, with a relative lack of sedation and low incidence of cosmetic, cognitive, and behavioral side effects. For more than 30 years, valproate has been available for treatment of generalized and partial seizures, convulsive or nonconvulsive. For this reason, it is used in the treatment of epilepsy in the multiply handicapped and mentally retarded. Benzodiazepines are the drug of choice for treatment of status epilepticus; however, good medical control requires early diagnosis and treatment.
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PMID:Treatment considerations: traditional antiepileptic drugs. 1260 8

Megalencephaly means an increased size or weight of a generally well-formed brain. It is a feature of a heterogeneous group of mostly familial human disorders with prenatal or early childhood onset. Seizures, motor deficits, mental retardation or milder cognitive impairment are sometimes present. This review discusses idiopathic megalencephalies with regard to possible etiology and treatment opportunities. Idiopathic megalencephalies with neurological deficits as well as unilateral megalencephaly are hypothesized to be caused by disturbances of proliferation, survival or migration of neurons in the brain. The current knowledge of postnatal and adult generation of neurons and survival of adult-borne neurons is reviewed. We show an example of how a genetic potassium channel dysfunction causes not only temporal lobe epilepsy, but also postnatal progressive megalencephaly in a mouse model. We also summarize novel data on neuro-protective effects of the antiepileptic drug carbamazepine in the treatment of brain overgrowth. Findings propose that potassium ion channelopathy may underlie disease for a group of infants or young children displaying idiopathic megalencephaly and early onset epilepsy or episodic ataxia type 1. Carbamazepine's remarkable protective effects on the neuronal plasticity in the hyperexcitable state should be further studied, and maybe this drug should be considered more in treatment of temporal lobe epilepsy and megalencephaly.
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PMID:Idiopathic megalencephaly-possible cause and treatment opportunities: from patient to lab. 1824 8