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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report here on a male diagnosed with tuberous sclerosis at 6 months of age. The child was treated with vigabatrin at age 6 months after an abnormal electroencephalogram but before onset of seizures. Vigabatrin was discontinued at age 13 months to avoid possible visual field defects. At 21 months, the child developed partial seizures with secondary generalization and infantile spasms. Standardized developmental assessments were performed at 12, 18, 24, 30, and 36 months of age. Cognitive and social development were normal until age 21 months and the onset of seizures. When assessed at 24 months, the child met criteria for autism and learning disability. This case indicates that the onset of epilepsy during an early stage in brain development can be associated with autistic regression and persistent developmental disorder. The case suggests the need to consider if possible visual field defects with vigabatrin outweigh the potentially deleterious effects of uncontrolled seizures.
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PMID:Autistic regression associated with seizure onset in an infant with tuberous sclerosis. 1742 12

Few suitable instruments exist for use with people, especially children, with both epilepsy and learning disabilities. One such measure is the Epilepsy and Learning Disabilities Quality of Life scale (ELDQOL), which has recently undergone revision following feedback from relevant users. This article reports on the final psychometric testing phase of this scale. ELDQOL consists of 70 items covering seizure severity, seizure-related injuries, antiepileptic drug side effects, behavior, mood, physical, cognitive, and social functioning, parental concern, communication, overall quality of life, and overall health. Revalidation involved a qualitative phase, to ascertain users' opinions on the wording, coverage, and layout of the questionnaire, and a quantitative phase, to examine internal consistency, test-retest reliability, and validity. There is very good evidence of the reliability and validity of the final version of ELDQOL, making it a promising instrument for assessing quality of life in children/young adults with epilepsy and learning disabilities.
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PMID:The development and validation of the Epilepsy and Learning Disabilities Quality of Life (ELDQOL) scale. 1712 7

All studies report an increased mortality risk for people with epilepsy compared with the general population. Population-based studies have demonstrated that the increased mortality is often related to the cause of the epilepsy. Common etiologies include neoplasia, cerebrovascular disease, and pneumonia. Deaths in selected cohorts, such as sudden unexpected death in epilepsy (SUDEP), status epilepticus (SE), suicides, and accidents are more frequently epilepsy-related. SUDEP is a particular cause for concern in younger people, and whether and when SUDEP should be discussed with patients with epilepsy remain problematic issues. Risk factors for SUDEP include generalized tonic-clonic seizures, increased seizure frequency, concomitant learning disability, and antiepileptic drug polypharmacy. The overall incidence of SE may be increasing, although case fatality rates remain constant. Mortality is frequently secondary to acute symptomatic disorders. Poor compliance with treatment in patients with epilepsy accounts for a small proportion of deaths from SE. The incidence of suicide is increased, particularly for individuals with epilepsy and comorbid psychiatric conditions. Late mortality figures in patients undergoing epilepsy surgery vary and are likely to reflect differences in case selection. Future studies of mortality should be prospective and follow agreed guidelines to better quantify risk and causation in individual populations.
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PMID:Mortality in epilepsy. 1733 48

The neuropsychological and clinical histories of three male siblings affected by pyridoxine-dependent seizures with known homozygous antiquitin mutations are presented. Neuropsychological evaluation is reported from when the siblings were 11, 9, and 7 years of age. Two of the siblings had received early pyridoxine treatment (antenatal, 2-4 wks into pregnancy) and one had received late treatment (2mo postnatal). However, there was no differential effect on cognitive outcome, with all three siblings having moderate to severe learning disability. Unlike previously reported cases that received early postnatal treatment, none of the siblings had relatively preserved non-verbal cognitive skills. Equally, their intellectual performance over time did not increase above the 1st centile despite high maintenance doses of vitamin B6 (range 16-26 mg/kg/d), and mild sensory neuropathy was reported on nerve conduction studies. The findings in these siblings challenge assumptions that early and high dose pyridoxine treatment can benefit cognition in this population and suggest routine electromyography monitoring may be beneficial.
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PMID:Pyridoxine-dependent seizures: a family phenotype that leads to severe cognitive deficits, regardless of treatment regime. 1737 42

A de novo 4.1-megabase microdeletion of chromosome 1p34.2p34.3 has been identified by array-based comparative genomic hybridization in a young male with severely delayed development, microcephaly, pronounced hypotonia, and facial dysmorphism. The deleted region encompasses 48 genes, among them the glucose transporter 1 (SLC2A1 or GLUT1) gene. The deletion of the GLUT1 gene was in line with the abnormal ratio of cerebrospinal fluid (CSF) glucose to blood glucose, indicative of GLUT1 deficiency syndrome (MIM #606777). GLUT1 deficiency syndrome is characterized by therapy-resistant infantile seizures, developmental delay, acquired microcephaly, spasticity, ataxia, and a low concentration of glucose in the CSF. It is known that a ketogenic diet can lead to better control of seizures. This case study shows that identifying a microdeletion as the cause of learning disability is not only important for genetic counselling but might also lead to therapeutic intervention.
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PMID:A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development. 1748 14

Despite observations associating lower IQ and psychopathology in epilepsy, the possible differential effects of varying severity of learning (intellectual) disability (LD) on the manifestation of psychopathology in people with LD and epilepsy have not been clarified. In this study of retrospectively collected data describing the epilepsy, learning disability, and psychopathology of 175 patients with epilepsy and LD over a 3-month period, we observed that 65 patients had no recent seizures, whereas 110 had experienced at least one seizure in the preceding 3 months. We found that depression and psychoses were more common in those with no seizures in the preceding 3 months, but that which of these psychiatric states was manifest was related to the severity of LD. Psychosis rates were higher in those with mild LD, whereas depression rates were higher in those with severe LD.
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PMID:Interactions between seizure frequency, psychopathology, and severity of intellectual disability in a population with epilepsy and a learning disability. 1752 64

This paper presents a review of all patients with Down syndrome seen over a 5-year period by one consultant neurologist in general outpatient and specialist cognitive function clinics. It revealed only 7 cases in > 4500 general referrals (= 0.2%), all referred with suspected seizure disorders. The diagnosis of epilepsy was confirmed in 6 patients. Only one new, comorbid, diagnosis was made. Neurologists have little exposure to, and hence little chance to develop expertise in, the neurological complications of Down syndrome. It is suggested that closer liaison between neurologists and psychiatrists with an interest in learning disability might improve the management of neurological problems in patients with Down syndrome.
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PMID:Down syndrome in the neurology clinic: Too much? Too little? Too late? 1769 91

Cardio-facio-cutaneous syndrome (CFC) is a multiple congenital anomaly disorder characterized by craniofacial dysmorphia, ectodermal abnormalities, congenital heart defects, and developmental and growth delay. Neurological complications associated with CFC remain to be clearly defined. Recent discovery of causative mutations in genes of the MAPK pathway (BRAF, MEK1, and MEK2) now permit accurate molecular diagnosis of CFC. The aim of the study was to characterize neurological features of participants with molecularly-confirmed CFC. Medical records, and laboratory and imaging data were reviewed for 39 mutation-positive individuals with CFC. Participants with a clinical diagnosis of CFC but a negative result on mutation screening of the BRAF, MEK1, and MEK2 genes were excluded from the study. Mean age of participants was 9 years 4 months (range 18 mo-24 y); there were 24 females and 15 males. Mutations in B RA F were present in 32 participants, MEK1 in five, and MEK2 in two participants. Hypotonia, motor delay, speech delay, and learning disability were universally present in this cohort. Macrocephaly was present in 13 participants, ptosis in 11, strabismus in 14, and nystagmus in 11 of the 22 participants who underwent a neurological exam. Corticospinal tract findings were present in seven participants. Ventriculomegaly or hydrocephalus was present in 14 of 32 participants who underwent brain imaging. Other findings on magnetic resonance imaging included prominent Virchow-Robin spaces (n=6), abnormal myelination (n=4), and structural anomalies (n=5). Seizures were present in 15 participants. No specific genotype-phenotype correlation was observed.
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PMID:Neurological complications of cardio-facio-cutaneous syndrome. 1803 35

Among a consecutive series of patients with psychogenic nonepileptic seizures (PNES), we compared patients with learning disability (LD) (n=25) with patients with no LD (n=263), with respect to demographic and clinical variables. A higher proportion of the LD group had epilepsy as well as PNES (P<0.001) (uncorrected P values are quoted), and a higher proportion were taking antiepileptic drugs at the time of diagnosis of PNES (P=0.007). Fewer patients with LD had a history of antecedent sexual abuse (P=0.036). A higher proportion of the LD group had previous pseudostatus (P<0.001), and a higher proportion had immediate situational or emotional triggers for their attacks (P<0.001). There were trends toward a higher proportion of men in the LD group (P=0.056) and a longer delay between onset of PNES and diagnosis (P=0.072). Our data suggest potentially important clinical differences between PNES populations with and without LD, as well as possible differences in mechanism.
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PMID:Psychogenic nonepileptic seizures in patients with learning disability: comparison with patients with no learning disability. 1808 62

The purpose of this study was to investigate the frequency and clinical outcome of patients with encephalopathic electroencephalograms (EEGs) in a neurophysiology department based in a general hospital. We performed a retrospective review of all EEGs obtained during an 18-month period in a large tertiary referral hospital. The referral reasons for EEG, the diagnoses reached, and patient outcomes were reviewed according to EEG severity. One hundred and twenty-three patients with encephalopathic EEGs were reviewed. The most common referral reason found was for an assessment of a possible first-onset seizure. The most common diagnosis found was one of dementia or learning disability. Of patients who were followed-up for a median of 19 months, 20.7% had died. The mortality rate generally increased according to the severity of the encephalopathy on EEG. However, 21.4% of those patients with excessive theta activity only on EEG had died. This study highlights an increased mortality even in the apparently 'milder' degrees of EEG abnormalities.
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PMID:Aetiology and prognosis of encephalopathic patterns on electroencephalogram in a general hospital. 1838 3


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