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)

In an unselected group of children who were seen following an initial febrile convulsion, the frequency of subsequent afebrile seizures was 3.5% and of mental retardation 1%. The most common afebrile seizure type was generalized major (86%). About 3/4 of the children who developed afebrile seizures did so by three years and all by five years following the initial febrile seizure. The children with afebrile seizures differed from those without afebrile seizures in the frequency of neonatal abnormality, family history of mental retardation, focal initial febrile convulsions, and delay in psychomotor milestones before the initial febrile seizure. Only about 1/3 of the children who developed afebrile seizures ever had a recurrent febrile convulsion and none had complex recurrent febrile seizures. Half the children with mental retardation had histories of delay in psychomotor milestones prior to the initial febrile seizure, and no child with mental retardation had any seizure longer than five minutes. The administration of daily phenobarbital did not reduce the frequency of epilepsy, in spite of a significant reduction in the incidence of recurrent febrile seizures. There remains no evidence that the prevention of recurrent febrile convulsions significantly decreases the frequency of afebrile seizures or mental retardation.
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PMID:Epilepsy and mental retardation following febrile seizures in childhood. 292 52

According to comprehensive cohort studies the long term prognosis for children with febrile seizures is far better than previously assumed. There is very little risk of neurological deficit, epilepsy, mental retardation, or altered behaviour as sequelae to febrile seizures. As a natural consequence of the good long term prognosis, the routine use of continuous phenobarbitone or valproic acid prophylaxis is not indicated in simple febrile seizures and only rarely in complex febrile seizures. A rational alternative is intermittent prophylaxis by rectally administered diazepam in solution in the event of fever or acute treatment during continuing convulsions. This prophylaxis may be used selectively for children at high risk of new febrile seizures, or routinely for all children after the first attack of febrile seizure. The treatment is almost devoid of major side effects. If prophylaxis is to be avoided altogether, parents should be supplied with a diazepam solution for rectal use to deal with new seizures.
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PMID:Optimum management of febrile seizures in childhood. 306 93

The prognosis of partial epilepsy in childhood (excluding cases of benign partial epilepsy) was studied; the average follow up period was 7.4 years. Improvement rate of seizure status was 82.3%. We studied favourable prognostic factors and found that those most often associated with seizure improvement were familial convulsions and idiopathic forms, no generalised seizures before partial onset, low frequency of seizures after 12 months of treatment, short duration of epilepsy, and no background activity abnormalities on electroencephalography. We also observed such factors as mental retardation, neurological abnormalities, and behaviour and cognitive disorders. Factors that determined the prognosis for social adjustment were similar to those for seizure improvement. We discuss the favourable prognosis of partial seizures in childhood and the predictive factors.
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PMID:Prognosis of partial epilepsy. 314 14

Ten patients with biotinidase deficiency were studied. Clinical findings at presentation varied with dermatological signs (dermatitis and alopecia), neurological abnormalities (fits, hypotonia, and ataxia), and recurrent infections being the most common features, although none of these occurred in every case. Biochemically the disease is characterised by metabolic acidosis and organic aciduria. Treatment with biotin results in pronounced, rapid, clinical and biochemical improvement, but some patients have residual neurological damage comprising neurosensory hearing loss, visual pathway defects, ataxia, and mental retardation. The cause of this permanent damage remains obscure and it is not clear if the early introduction of treatment will prevent it.
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PMID:Biotinidase deficiency: a survey of 10 cases. 319 50

This study reports the neonatal aspects and prognosis of seizures observed in 71 neonates from 1.3. 1980 to 30.6 1981. Forty-five were full-term, 26 preterm babies. Twenty-one children had status epilepticus (SE), 50 isolated crises (IC). An etiology was found in 68 cases. Acute fetal distress (AFD) was observed in half of the cases. AFD and intracranial hemorrhages represented 62% of the etiologies in term babies, 42% in preterm. Fifteen children died in the neonatal period. The outcome of the 56 survivors was followed until at least two years of age. Forty-one children were neurologically normal; 15 were not: 9 had a cerebral palsy, 12 a mental retardation, 1 was deaf, 4 were epileptic. Sequelae occurred in 24.3% of term, 31.6% of preterm survivors (p less than or equal to 0.01). The outcome was normal in 8 out of 15 living children with SE (53%), in 32 out of 41 (78%) with IC (p less than or equal to 0.01). The prognosis of hypoxic-ischemic seizures was good if crises lasted less than two days. Treatment was discontinued as soon as possible, during the days following the end of the crises and the recovery from the initial disease, without adverse effects. Convulsions following obstetrical abnormalities were less frequent, and the prognosis was better in premature babies than in previous studies.
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PMID:Neonatal seizures--recent aspects. 320 78

Calcium hopantenate (HOPA-Ca), which is obtained by substituting the beta-alanine of pantothenic acid for gamma-amino butyric acid (GABA), is a therapeutic drug for mental retardation and cerebrovascular dementia. HOPA-Ca is known to produce convulsive seizures in some patients although it is also true that this improves EEG abnormalities and suppresses epileptic seizures. Thus, clinical observations suggest that HOPA-Ca exerts a paradoxical influence on epilepsy. In order to gain further insight into the influence of HOPA-Ca on epilepsy, we examined its effects on the generalized seizure-triggering threshold (GST) of kindled amygdaloid (AM) seizure and on the rate of AM kindling in rats. Male Wistar rats weighing 200-250 g were used. Under pentobarbital anesthesia, a bipolar electrode, made of twisted stainless steel wire 0.2 mm in diameter, was stereotaxically implanted into the left AM. Daily electrical stimulation was given at the intensity of afterdischarge threshold (ADT). Electrical stimulation was continued until at least five consecutive generalized convulsions were evoked. Subsequently, the stimulus intensity was daily lowered by 20-microA steps and the last stimulus intensity for evoking generalized convulsion was designated as the GST. Experiment 1. Influence of HOPA-Ca on the GST; HOPA-Ca was dissolved in saline as a vehicle. Injections of 50, 100, 250, 500 mg/kg HOPA-Ca were given intraperitoneally 60 min before the stimulation at the GST. The GST never changed with vehicle injection. The GST increase was never observed with any amount of HOPA-Ca. However, the GST dropped flowing HOPA-Ca infection independent of its amount. The GST reduction was always 20-microA.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Facilitatory effect of calcium hopantenate on amygdaloid kindling in rats]. 322 34

In case of an indication for an operation on craniosynostosis not only an atrophy of the optical nerve, mental retardation and epileptic fits should be taken into consideration, but also the danger of faulty psychic developments, criminality of male patients, increased occurrence of psychoses and early cerebral blood flow disturbances as well as, especially in girls with scapho- or oxycephaly, cosmetic impairments with resulting psychosocial disturbances. Convulsions in craniosynostosis are not always an expression of a generally increased intracranial pressure, sometimes genetic couplings should be taken into consideration in case of an indication for craniotomy. Disturbances of social adaptation are related to a psychic fronto-cerebral syndrome due to frontal dysplasia of the base of the skull. For carrying out a craniotomy it is advisable to employ a combination of orbito-fronto-sphenoidal osteotomy for an extension of the anterior cranial fossa.
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PMID:[Neuropsychiatric aspects of surgical indications of craniosynostosis and -stenosis]. 324 35

Occipital paroxysmal discharges (OPDs) have been related to a variety of clinical problems. To evaluate associated symptoms and patient outcome, we studied 293 children with OPDs. Follow-up of more than 6 months was available in 141 children. Mental retardation, neurological symptoms, behavior problems, ocular symptoms, and convulsions of various types were present. Eight patients had ictal visual phenomena consistent with the diagnosis of benign epilepsy with occipital spike and wave (BEOSW). In the 141 children with at least 6 months follow-up, 58 had other types of convulsions. Clinical and EEG normalization was observed in 25 and clinical normalization only in 17. The use of antiepileptic drugs did not seem to influence the outcome although seizure control was obtained in 26 patients. In all the cases where follow-up was 9 or more years, clinical normalization was observed. Clinical symptoms in these patients were quite heterogeneous and frequently not ictal. The disappearance of OPDs with increasing age points to their being "not lesional" in origin.
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PMID:Clinical findings in children with occipital paroxysmal discharges. 340 47

We report a family in which Opitz-Frias G syndrome is expressed across 4 generations. The propositus displays hypertelorism, low grade hypospadias, cleft palate and lips and cleft larynx, making the diagnosis of G syndrome very likely. A cousin of his mother discloses similar clefts, vulviform hypospadias, anal imperforation and mental retardation. His clinical appearance fits perfectly the diagnosis of BBB syndrome. A nephew shows ambiguous genitalia and hypertelorism. Authors suggest the lumping of the BBB and the G syndrome.
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PMID:[Variable expression of an autosomal dominant syndrome: (BBB syndrome or G syndrome)]. 341 6

The population genetics implications of the premutation hypothesis for the generation of the fragile X mental retardation gene are explored. With some broad assumptions, the consequences of the model are that 50% of mothers of probands carry the premutation; 6.5% of mothers of probands receive the premutation from their mothers, 18.9% from their fathers, and 24.6% as a "new mutation"; the incidence of carriers for the full mutation equals the incidence of affected males, whereas the incidence of carriers for the premutation is 1.35 times the incidence of affected males; assuming mutation rates are equal in eggs and sperm, the mutation rate from normal to premutation alleles is 1.67 X 10(-4); the expected segregation ratio in sibs of probands is 0.44, which corresponds to observed values. In addition, predictions using the premutation hypothesis of the expected segregation ratio in sibs of mothers of probands fits well with the data of Vogel and coworkers.
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PMID:Population genetics implications of the premutation hypothesis for the generation of the fragile X mental retardation gene. 355 51


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