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 report on 4 generations in a family with 3 living males, 3 males who died in infancy, and 3 females with neurologic impairment and agenesis of the corpus callosum (ACC). Manifestations in the surviving males include severe acquired micrencephaly, mental retardation, limb contractures, scoliosis, tapered digits with hyperconvex nails, a characteristic face with large eyes, prominent supraorbital ridges, synophris, optic atrophy, broad alveolar ridges and seizures. Urologic anomalies include renal dysplasia, cryptorchidism, and hypospadias. Two affected females were less severely impaired and continued to be socially responsive as adults, but had spastic quadriplegia and seizures. One obligate heterozygote was retarded with emotional problems while another obligate carrier female and her daughter were clinically normal. Pedigree analysis suggested X-linked inheritance with variable expression in females. These findings are inconsistent with the well-described X-linked conditions with ACC including FG syndrome and Aicairdi syndrome. ACC has not been described in Coffin-Lowry syndrome, a condition with similar clinical findings, which also demonstrates marked variability of expression in carrier females. In order to assist in carrier determination, brain imaging studies and DNA linkage analysis of the affected relatives was performed. We found a spectrum of agenesis of the corpus callosum with the most severe manifestations in the most severely affected males. DNA analysis using a series of X-linked probes suggests linkage with a LOD score of 1.26 at theta = 0 to a region between p 11.3 and p 21.3.
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PMID:New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum. 846 65

Neuronal ceroid lipofuscinosis (NCL, Batten disease) is an autosomal recessive disease characterized by progressive mental retardation, cortical atrophy, seizures, and retinal degeneration. Several subtypes have been delineated on the basis of age-at-onset and histological characteristics; the most common is the juvenile (JNCL) form. Recently, the gene for JNCL was shown to reside on chromosome 16 through linkage studies to the haptoglobin locus and anonymous DNA markers using numerous European families. We have now examined 8 families from North America with JNCL for linkage to markers in 16q21-23. Results in 3 families tend to support linkage to chromosome 16;3 families remained uninformative, and 2 families produced negative lod scores in this region. A test of homogeneity was suggestive, but could not significantly reject the null hypothesis of homogeneity. We are continuing to collect families, particularly those with multiple living affecteds, and are identifying other probes in this region. Given close localization on chromosome 16 for JNCL, molecular strategies, including candidate gene strategies, are being explored.
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PMID:Linkage analysis in juvenile neuronal ceroid lipofuscinosis. 160 35

We report of 16 year old twinsisters with a neuronal migration disorder, twin I with mental retardation and focal epileptic seizures on MRI showed general pachygyria, laminar subcortical heterotopia and mildly dilated lateral ventricles, whereas twin II whose first symptom was a cerebral seizure only showed a focal pachygyria and laminar subcortical heterotopia; the location of pachygyria corresponded to the epileptogenic focus. The morphological expression seems to correspond with the severeness of the clinical features. Genetic as well as exogenic factors must be assumed to be causative for the migration anomalies.
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PMID:[Pachygyria and laminar heterotopic tissue. A rare case of unique expression of a neuronal migration disorder in twins]. 161 47

Thirty-one children with right (n = 18) and left (n = 13) congenital hemiplegia were compared for incidence of hand- and foot-preference, eye-dominance, and familial sinistrality. In addition, they were tested with dichotic listening for correct reports of consonant-vowel syllables. The two groups of children were closely matched on IQ and sensory functioning. Children with mental retardation, or epileptic seizures were not included. The results showed that 89% of the left hemisphere impaired (LHI) children were left-handed, all of them preferred the left foot, and 72% were left eye-dominant. In the right hemisphere impaired (RHI) group, everyone (100%) preferred the right hand and foot, and 62% were right eye dominant. The dichotic listening results showed a significant right ear advantage (REA) in the RHI-group, and a significant left ear advantage (LEA) in the LHI-group. The results are discussed in the framework of pathological handedness and shifts in hemisphere control of language in children with early brain injury. It is argued that the homogeneous samples, except for the site of lesion, provides an interesting possibility to compare cognitive effects of left and right hemisphere impairment in children.
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PMID:Pathological left-handedness revisited: dichotic listening in children with left vs right congenital hemiplegia. 162 Mar 27

We documented seizures in 33 of 68 (48.5%) children with congenital hydrocephalus not associated with myelomeningocele. Mental retardation (MR) and CNS malformations correlated with seizure occurrence; age at shunt insertion and number of shunt revisions and infections were not significant variables in predicting seizures. Of 11 patients seizure free for 2 or more years on medication, six had therapy discontinued without seizure recurrence. Among those 33 children with seizures, 14 (42.4%), including five who had failed withdrawal of medication, have adequately controlled seizures on anticonvulsants. Frequent convulsions despite treatment occur in 13 (39.4%) of the 33 children with seizures. Absence of MR, older age and nonparoxysmal EEG at seizure onset, and absence of CNS malformation correlated with seizure remission. Longer time without seizures while on medication did not predict successful discontinuation of therapy. In contrast, MR correlated significantly with seizure recurrence following cessation of treatment. Our study indicates that medication can be safely discontinued in children with congenital hydrocephalus who are of normal intelligence and have been seizure free on anticonvulsants for 3 years.
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PMID:Seizures in children with congenital hydrocephalus: long-term outcome. 162 Mar 33

The epileptic encephalopathies of infancy and childhood include West syndrome, Lennox-Gastaut syndrome, severe myoclonic epilepsy of early childhood and related syndromes. The exact limits of these syndromes are still a subject of debate. The clinical features include several types of brief, frequently repeated seizures associated with mental retardation. The causes are multiple and brain malformations and dysplasias play an important role. Treatment remains unsatisfactory and the place of surgery seems limited.
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PMID:Epileptic encephalopathies of early childhood. 162 62

We studied 70 children who had experienced at least two seizures before age 12 years, excluding febrile seizures, neonatal seizures, or seizures occurring during a metabolic, or infectious insult to the central nervous system (CNS) and who had been seizure free for at least 2 years. Twenty children (28.5%) experienced a recurrence, 75% during antiepileptic (AED) drug discontinuation or less than 6 months after discontinuation. Risk factors statistically related to seizure recurrence were greater than 10 seizures before seizure control, an abnormal EEG in the year before AED discontinuation, presence of focal neurologic signs and/or mental retardation, and presence of a mixed seizure pattern. Fourteen children (70%) with recurrence had two or more risk factors, whereas 36 (72%) without recurrence had no risk factor or only one. We conclude that a selected group of epileptic children who remain seizure-free for a period of at least 2 years can have AEDs discontinued based on presence or absence of risk factors.
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PMID:Discontinuing medication in epileptic children: a study of risk factors related to recurrence. 162 84

The aim of total care in epilepsy is to ensure the best possible management for each individual patient. Although pharmacotherapy for reduction or suppression of seizures is the basis of treatment in epilepsy, social and environmental problems are as likely to distress patients as continuing seizures. One often neglected aspect of management is the provision of adequate information for patients and relatives with regard to the various aspects of the seizure disorder. Better education of society regarding epilepsy is necessary to remove the many preconceptions and prejudices that still prevail. It is important to encourage self-confidence in the patient and to avoid overprotection. Restrictions on lifestyle, including driving and employment, should be decided on a case-by-case basis, and only imposed if really necessary. Patients with epilepsy refractory to treatment should have access to specialized referral centers and institutions. One of the major goals of total patient care should be to help the patient with a seizure disorder lead a normal life, insofar as this is not prevented by additional mental retardation or cognitive dysfunctions.
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PMID:Total patient care in epilepsy. 164 54

The authors studied 10 patients aged between six and 23 years (mean age 14 years 5 months) with magnetic resonance imaging, which detected bilateral 'macrogyric-like' maldevelopment of the insulo-opercular regions. The data confirm that biopercular gyral anomaly, associated with mental retardation, pseudobulbar palsy (cortical or central) and epilepsy, represents an anatomo-clinical syndrome. Nevertheless, a wide clinical spectrum was found varying from pictures correlating with the topography and extent of the MRI-detected anomaly to conditions indicating wider cerebral involvement. Epilepsy, varying greatly in age at onset and severity, consistently influenced the prognosis for five patients with diffuse EEG abnormalities and intractable seizures with falls. Anterior callosotomy relieved such seizures in one case.
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PMID:Neurological findings and seizure outcome in children with bilateral opercular macrogyric-like changes detected by MRI. 164 32

A 10-year-old girl with developmental delay, mental retardation and intractable seizures is reported. She manifested clinically as Lennox-Gastaut syndrome with unknown etiology before admission. Brain MRI revealed a band-like lesion over the bilateral subcortical region being later recognized as band-form heterotopia. This type of heterotopia may be overlooked easily due to its symmetrical distribution and mild degree of cortical convolutional anomaly. As it is often associated with intractable seizures and psychomotor retardation, the prognosis is poor. This patient responded poor to ketogenic diet and anticonvulsants. We present this case and review the related articles.
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PMID:[Lennox-Gastaut syndrome with band form heterotopia: a case report]. 165 45


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