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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors studied 10 patients (mean age 15 years 6 months) with localized developmental gyral disorder detected by MRI. There were two groups of major malformations. Seven patients (group 1) had unilateral 'macrogyric-like' insulo-opercular changes, one of whom died early in life and had extensive microgyria. The six others had mental retardation and epilepsy, three of whom had focal neurological signs. Age at onset of epilepsy varied greatly. Clinical and EEG data suggested a wider cerebral involvement than recognized on MRI. The remaining three patients (group 2) had abnormal gyri of variable topography and extension, with bulging grey matter and ventricular deformity. One had mental retardation, another had neurological signs. All had intractable complex partial seizures and focal EEG anomalies correlating with the MRI lesion site, pointing to a well-defined epileptogenic zone. No clinical or EEG evidence of significant malformation in the remaining brain tissue was observed. Ablative surgery was beneficial for one patient; focal cortical dysplasia was the pathological substrate.
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PMID:Epilepsy and focal gyral anomalies detected by MRI: electroclinico-morphological correlations and follow-up. 164 33

We studied the clinical course and seizure prognosis of 126 children with complex partial seizures regularly followed up for more than 4 years in our clinic. Clinical and EEG features of 63 seizure-free patients were compared with those of 63 patients with persistent seizures. The features contributing to poor prognosis were 1) mental retardation, 2) a history of status epilepticus and 3) abnormal basic rhythm in EEG. CT abnormality, a history of febrile convulsions (FC), the clustering of seizures and association with other types of seizures did not influence prognosis. We divided the patients into four groups according to the evolutionary pattern of seizure discharges: Group A, 55 (43.7%) patients with spike focus always fixed in the same region; Group B, 20 (15.9%) patients with wandering foci; Group C, 10 (7.4%) patients with multifocal spikes; and group D, 41 (32.5%) patients with no focal discharges. There was no difference in seizure prognosis among these four groups, but the patients with a focus in the anterior temporal region in Group A evidenced the worst prognosis.
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PMID:Seizure prognosis and EEG evolution in complex partial seizures of childhood onset. 228 81

Ring (20) chromosomal mosaicism defined by two cell lines (one normal and the other with the ring) has been demonstrated in lymphocyte and fibroblast cultures from three members of a family through two generations. Two carriers of the ring chromosome were affected and showed the typical signs of r(20) syndrome including mental retardation, microcephaly, behavioral disorders, and epilepsy. The epilepsy is characterized by complex partial seizures sometimes evolving secondarily into generalized tonic-clonic seizures and is poorly controlled by or resistant to medical treatment. The mother of the two patients, also a carrier of ring (20) chromosomal mosaicism, was clinically and phenotypically normal and did not exhibit any signs of epilepsy. Lymphocyte and fibroblast cultures from the most severely affected sib, the proband, contained the highest percentage of cells with ring (20) chromosome and revealed the greatest instability of the ring. Though it is assumed that the ring (20) chromosome arose from terminal breakage and reunion in both arms, no loss of genetic material could be documented cytogenetically. Yet the question arises of how ring chromosomal mosaicism can be passed on. One explanation might be that a chromosome 20 predisposed to terminal lesions or breaks is transmitted from the mother to her offspring. Inherited instability of this type might lead to de novo formation of the ring.
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PMID:Familial ring (20) chromosomal mosaicism. 277 54

A follow-up study was performed on 40 children with tuberous sclerosis and epilepsy. In 68% of the patients with infantile spasms and 73% of those without them, complex partial seizures were observed. Thus, patients with tuberous sclerosis are subject to not only infantile spasms but also complex partial seizures. Patients with infantile spasms showed mental retardation more often than those without. Seizures which had evolved from infantile spasms were more difficult to control than those which had not. The prognosis of infantile spasms associated with tuberous sclerosis was better than that of prenatal group other than tuberous sclerosis. Forty percent of the 40 cases showed asymmetry on EEG, and the asymmetry tended to disappear as the patients grew up.
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PMID:Long-term prognosis of tuberous sclerosis with epilepsy in children. 311 77

Twenty-five out of 41 (61%) patients with drug-resistant complex partial seizures showed an initial dramatic response to clobazam. Sixteen of these responders developed tolerance to the effects of clobazam so that only 9 (22%) maintained a dramatic response for 1 year. Factors which appeared important in predicting a dramatic response to treatment were a known aetiology for the epilepsy, the occurrence of complex partial seizures alone (i.e., without secondary generalisation) and the absence of mental retardation.
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PMID:Factors relating to dramatic response to clobazam therapy in refractory epilepsy. 314 63

Atonic seizures, atypical absence seizures, myoclonic seizures, tonic seizures, and infantile spasms are among the most difficult to control in children. Certain 1,4-benzodiazepines may be effective against these seizure types. Thus, clonazepam has been shown to reduce the frequency of absence, atypical absence, myoclonic, atonic, and complex partial seizures in children. Furthermore, both clonazepam and nitrazepam have been shown to be effective in the treatment of infantile spasms. However, their usefulness is limited by a deleterious effect on neurologic function, particularly on cognition. Controlled studies in animals and in adult patients and volunteers have demonstrated that clobazam has less neurotoxicity than 1,4-benzodiazepines and, in addition, may possess a psychotropic effect. Uncontrolled studies of clobazam in children suggest that this drug may be effective in the treatment of partial seizures, startle-induced seizures, infantile spasms, and Lennox-Gastaut syndrome. We studied the effect of clobazam in children whose seizures were resistant to most other antiepileptic drugs. Mental retardation was present in 80% of the children, and 62.5% had Lennox-Gastaut syndrome. Tolerance to clobazam developed in approximately one-third of patients, but this was frequently only partial and often responded to an increase in dosage. Of 50 children studied for a minimum of 3 months, seizures were controlled completely in 10 and frequency of seizures was reduced by more than 50% in a further 17. In most cases, parents observed a striking improvement in neurologic function, particularly in alertness, concentration, and balance. Thus, clobazam may be of value in the treatment of those seizures which are most difficult to control in children.
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PMID:Benzodiazepines in the treatment of children with epilepsy. 374 24

Fifty children and adolescents with intractable epilepsy were treated with lamotrigine. Most of the children had other neuro-impairments, such as mental retardation, cerebral palsy and autism, added to their epilepsy. Five stopped lamotrigine treatment within four months because of side effects. In the 45 children who continued treatment for a mean of 14 months, five became seizure-free and in 16 the seizure frequency was reduced more than 30 percent. Absences and complex partial seizures responded best. In 24 of the 45 children, the parents reported an improvement in the mental state of their child, with better contact, longer attention span and improved alertness. In eight of 13 autistic children, the autistic symptoms decreased during lamotrigine treatment. This also occurred in children with an unchanged seizure situation, indicating a specific positive psychotropic effect of lamotrigine in mentally retarded and autistic children.
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PMID:Intractable epilepsy in children. The efficacy of lamotrigine treatment, including non-seizure-related benefits. 777 Jan 24

A new autosomal recessively inherited disease of the central nervous system involving childhood epilepsy and mental deterioration is described. Twenty three patients (11 males and 12 females) belonging to 11 families from northern Finland have been identified. A common ancestor has been found for nine families. The mean age of onset of epilepsy was 6.7 years (range 5-10 years) and the epilepsy was characterised by generalised tonic-clonic seizures increasing in frequency up to puberty. One third of the patients also had complex partial seizures during childhood. During young adulthood the epileptic activity began to decrease, but complete remission did not occur. Electroencephalography showed progressive slowing of the background activity with relatively scanty epileptiform activity. Out of four ictal recordings the paroxysmal activity was initiated focally in two cases. Clonazepam and sodium valproate had some antiepileptic effect, clonazepam being the more beneficial of the two. Mental development, which was originally normal, began to deteriorate two to five years after the onset of epilepsy, and the deterioration continued during adulthood in spite of good epilepsy control, leading to mental retardation by middle age. The pathogenesis of the disorder, called the Northern epilepsy syndrome, is unknown. Linkage analysis using DNA markers linked to the EPM1 gene for progressive myoclonus epilepsy of Unverricht-Lundborg type showed that the Northern epilepsy syndrome is not allelic to EPM1.
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PMID:Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration. 801 63

Two sibs with non-deletional alpha thalassaemia and mental retardation (ATR-X) have been ascertained showing variable neurological features. The proband had a complex neurological picture with recurrent apnoea, complex partial seizures, and prolonged periods of semiconsciousness between 12 and 17 months of age. Episodes of spontaneous laughter were also a feature. An EEG was initially normal. Hb H inclusions were present but rare in this family. The sole genital anomaly was deficiency of the foreskin, a feature not previously described in ATR-X.
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PMID:X linked mental retardation with non-deletional alpha thalassaemia (ATR-X): further delineation of the phenotype. 801 76

One hundred and twenty three children with difficult to control epilepsy (DCE) were studied. Etiological factors which predominated included an age of onset less than 2 years (71.5%), male sex (69%), mixed, secondarily generalized, or complex partial seizures (77%), mental retardation (64%) and neurological abnormalities (52%). Static neurological disease was seen in 63%, with only 17% having idiopathic disease. Identifiable epileptic syndromes were noted in less than half the children. The surface EEG was abnormal in 84%, and correlated with the clinical seizure type in 81%. CT and MRI were helpful in diagnosis in only 38 and 48%, respectively, and even less so in therapy decisions, 7 and 16%, respectively. Prior therapy revealed the use of polytherapy in 61% and suboptimal dosages in 78%. In the 100 patients with adequate follow up, 67% showed a good response, i.e., 35% complete and 32% more than 50% reduction in seizures. Only 11% were total nonresponders, and most were severely retarded. Major treatment strategies employed included switching to monotherapy, supranormal dosages and avoidance of sedative anticonvulsants. Side effects were noted in 41% with 8 cases being life threatening. Overall mortality was 4%. We concluded that risk factors for DCE included early age of onset, mental retardation and certain seizure types. EEG was more helpful than neuroimaging. Treatment responses were favorable, especially in those with normal intellect and the use of normal or high dose monotherapy.
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PMID:Difficult to control epilepsy in childhood--a long term study of 123 cases. 807 11


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