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

Current evidence suggests that epilepsy outcome for people with a learning disability is poor, with the majority remaining refractory to treatment. There is very little evidence from randomised controlled trials in this population and despite the many uncontrolled variables it is suggested that an outcome audit may be one method of adding to the evidence base. This audit reports on the outcome for 37 patients with learning disability and refractory epilepsy. All patients were seen for the first time before March 2001 and the mean number of seizures for the sample was 10.4 per month. The exit audit included all patients at a date 2 years after their initial visit following a programme of medication changes. The mean seizure frequency had reduced to 5.9 per month. Ten patients had become seizure-free and 76% had experienced an improvement in seizure frequency overall. A simple questionnaire was administered to carers and relatives at the exit audit in an attempt to establish an impression of global changes in alertness, assertiveness and challenging behaviour following interventions. Sixty-five percent of patients were regarded as being more aware and interactive with their surroundings following medication changes and 49% were reported to be more assertive. Thirty percent presented with an increase in behaviours regarded as challenging and 22% were reported to present with less challenging behaviour. The results of this audit suggest that the outcome for the majority of patients with learning disability and refractory epilepsy may be better than that has been previously reported.
Seizure 2004 Dec
PMID:Two-year outcome audit in an adult learning disability population with refractory epilepsy. 1551 11

A marked prevalence of mental health dysfunction in childhood epilepsy has been documented in the literature. While several individual risk factors have been identified, which are statistically associated with an impaired mental health outcome, there is a lack of knowledge on the pathways taken by these risk factors on disease development and treatment. The relevant literature of the last decade will be reviewed in this paper to provide evidence for the conceptual framework presented here. Thus, the emergence of mental health dysfunction in childhood epilepsy is analyzed under three levels. Pathogenetic causes: These involve both the underlying CNS pathology and the associated epilepsy disorder characterized by specific time of onset duration type and severity. Mediators and moderators connecting causes to outcomes: These comprise, firstly, the differentiation between the intervening role of anti-epileptic drugs and their positive psychotropic impact via suppression of seizure activity and transient cognitive impairments, as against their negative psychotropic side-effects; secondly, the psychological processes of adaptation which entail responding to three major demands (adherence to treatment requirements, exercising self-control and lifestyle modification to reduce seizure activity, and coping with the psychosocial stressors secondary to living with epilepsy); thirdly, the age-dependent level of neurocognitive and behavioral functioning; and, fourthly, contextual risks and protective factors within the family and social environment. Mental health outcome: This encompasses three major domains: risks for learning disability, for impairments of health-related quality of life, and for psychopathology. The proposed framework serves the development and validation of hypotheses and can be applied to testing procedures aimed at investigating the emergence of mental health dysfunction in childhood epilepsy. On the scientific level, it provides an appropriate tool to approach childhood epilepsy in general, whereas on the clinical level, it facilitates the assessment and management of individual patients.
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PMID:Development of mental health dysfunction in childhood epilepsy. 1562 35

Heterozygous, de novo, loss-of-function mutations in SOX2 have been shown to cause bilateral anophthalmia. Here we provide a detailed description of the clinical features associated with SOX2 mutations in the five individuals with reported mutations and four newly identified cases (including the first reported SOX2 missense mutation). The SOX2-associated ocular malformations are variable in type, but most often bilateral and severe. Of the nine patients, six had bilateral anophthalmia and two had anophthalmia with contralateral microphthalmia with sclerocornea. The remaining case had anophthalmia with contralateral microphthalmia, posterior cortical cataract and a dysplastic optic disc, and was the only patient to have measurable visual acuity. The relatively consistent extraocular phenotype observed includes: learning disability, seizures, brain malformation, specific motor abnormalities, male genital tract malformations, mild facial dysmorphism, and postnatal growth failure. Identifying SOX2 mutations from large cohorts of patients with structural eye defects has delineated a new, clinically-recognizable, multisystem disorder and has provided important insight into the developmental pathways critical for morphogenesis of the eye, brain, and male genital tract.
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PMID:SOX2 anophthalmia syndrome. 1581 12

Ring chromosome 20 (r[20]) syndrome is characterized by mild to moderate learning disability*, behavioural disorders, epilepsy, and various dysmorphic features. Although still considered rare, r (20) syndrome is being increasingly diagnosed. More than 30 cases have been described in the literature since 1976. Here we report an additional case of a 14-year-old male with r (20). He had moderate to severe learning disability and epileptic seizures manifesting at about 18 months of age. During the 13 years' follow-up period he showed intractable epileptic seizures, behavioural disorders, and mild dysmorphological features including microcephaly, strabismus, micrognathia, down-slanting eyelids, and ear abnormalities. Frequent episodes of atypical absence or non-convulsive status associated with electroencephalogram changes were seen in follow-up. He was treated with several classical and new antiepileptic drugs, including intravenous immunoglobulin, corticotropin, and vagal nerve stimulation, with unsuccessful control of seizures. Finally, surgical treatment (corpus callosotomy) was performed at the age of 13 years; severity of tonic seizures was diminished, but frequency was unchanged. Although his behavioural problems, e.g. hyperactivity, were mild in early childhood they became more severe when he was 11 years old. Aggressiveness, compulsiveness with self-injury, and panic attacks developed at the age of 13 years, and were more pronounced after callosotomy. This case report provides the first description of deterioration in psychological situation in patients with r(20) intractable epilepsy. The patient was diagnosed with r(20) syndrome after 13 years of clinical follow-up. Karyotype analysis should, therefore, be performed in every patient with intractable epilepsy of unknown aetiology.
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PMID:Ring chromosome 20 syndrome with intractable epilepsy. 1635 3

The aim of this audit was to ascertain outcomes for people who had taken or who were still taking three "new generation" broad-spectrum antiepileptic drugs (AEDs), namely lamotrigine, levetiracetam and topiramate. Thirteen percent of people became seizure free and approximately, one-third had a reduction of greater than 50% in their seizures. Two-thirds of people were still taking their audit AED. In addition, approximately one-third of people with a learning disability derived substantial benefit, although the rate of seizure freedom was lower. All three AEDs were most successful at treating primary generalised epilepsy and least successful with symptomatic generalised epilepsy. With some reservations the data suggests that levetiracetam and topiramate are the most efficacious AEDs, but topiramate is the least well tolerated. These results mean consideration of a "general prescribing policy" is important when using and choosing these AEDs. We conclude that lamotrigine, levetiracetam and topiramate are useful additions to the armamentarium of AEDs.
Seizure 2005 Sep
PMID:An audit of lamotrigine, levetiracetam and topiramate usage for epilepsy in a district general hospital. 1608 59

Pallister-Killian syndrome (PKS) is a rare, sporadic, genetic disorder characterized by dysmorphic features, learning disability, and epilepsy. It is caused by a mosaic supernumerary isochromosome 12p (i[12p]). The i(12p) is rarely found in peripheral blood but it is present in skin fibroblasts. Recognition is essential for cytogenetic diagnosis. We describe a male aged 2 years 6 months and a female aged 11 years with PKS and epileptic spasms (ES). This type of seizure is not unusual in patients with brain malformations and with severe developmental delay, but it is sometimes difficult to recognize without video-electroencephalogram studies and could be mistaken for other types of seizure or behavioural manifestations. In these two patients with PKS, spasms had late onset, persisted beyond infancy, and were drug resistant. Clinicians should be aware of this possibility in PKS, which appears to be a rare cause of ES.
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PMID:Pallister-Killian syndrome: an unusual cause of epileptic spasms. 1622 43

Since its introduction into clinical practice in 1999, levetiracetam, the S enantiomer of piracetam, has rapidly found a secure place, initially in the therapy of partial onset seizures and subsequently in the treatment of idiopathic generalized epilepsies (IGE). It has many of the properties of an "ideal" antiepileptic drug, including rapid absorption, linear pharmokinetics, and sparse drug interactions. Tolerabiliy is generally excellent in both adults and children, although tiredness is a common dose-limiting adverse effect. Occasionally the drug can precipitate behavioral abnormalities, especially in patients with learning disability. There is a wide safety margin in overdose. In common with most antiepileptic drugs its mode of action remains uncertain. Levetiracetam binds to a specific site in the brain, influences intracellular calcium currents and reverses negative allosteric modulators of GABA- and glycine-gated currents in vitro. Its effectiveness has been demonstrated in animal models of epilepsy and in clinical trials of partial onset and IGE. Treatment of IGEs may be straightforward, with many patients demonstrating an excellent and robust response to valproate monotherapy. However, there remains a significant minority of patients for whom valproate is unsuitable, including those who experience unacceptable adverse effects (e.g., weight gain or hair loss) and women of childbearing age in whom the teratogenic potential of valproate is unacceptable. Therapeutic response to lamotrigine in this group is often disappointing, and many clinicians now are turning to the choice of levetiracetam. Efficacy in generalized tonic-clonic seizures and myoclonus is usually apparent and some patients experience improvement in typical absences. Experience of combinations of levetiracetam with other antiepileptic drugs is limited in IGE and the responses are largely anecdotal. In our hands, patients with refractory IGEs may respond to combinations of levetiracetam with valproate, lamotrigine, and phenobarbital, and adverse effects when they occur are usually limited to tiredness. Levetiracetam does not interact with the oral contraceptive pill, simplifying treatment in women of childbearing age. Although animal data look encouraging, questions over levetiracetam's teratogenic potential and overall safety in pregnancy will remain for many years to come.
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PMID:Levetiracetam in the treatment of idiopathic generalized epilepsies. 1630 90

Epilepsy may be seen as a feature of many of the neurocutaneous syndromes. The challenge lies within the diagnosis of the specific disorder and ultimately control of the epilepsy. Tuberous sclerosis is the most common of the disorders with a frequency of 4.9/100,000. An autosomal-dominant condition, diagnostic features may be unclear under 2 years of age. Population studies suggest a prevalence of epilepsy of 78%, the majority presenting under the age of 12 months, with a high association between the occurrence of seizures and the presence of learning disability. Although an apparent multifocal disease, surgery may have a role to play where seizures are demonstrated to probably arise from a single tuber. Other less common neurocutaneous syndromes also have a high prevalence of epilepsy in association with cerebral malformations; unilateral or lobar malformations should be referred early for surgical consideration. Neurofibromatosis is the second most common of the disorders but the prevalence of epilepsy in this population is relatively low; in addition, a greater proportion may be easier to treat with medication.
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PMID:Neurocutaneous syndromes and epilepsy-issues in diagnosis and management. 1635 66

We present clinical data on 33 subjects with additional copies of the Prader-Willi-Angelman critical region (PWACR) contained in a supernumerary marker chromosome (SMC). Twenty-three subjects had a typical large non-mosaic SMC(15) containing two copies of the PWACR. They showed a variable but generally severe phenotype of learning disability and autism, with seizures in approximately two-thirds. The other 10 differed from this typical pattern in respect of mosaicism, variation in copy number, or arrangement of the PWACR within the SMC or number of SMC per cell. Clinical severity increased with the number of additional copies of the PWACR and decreased with mosaicism for a normal cell line. There was a trend for a larger number of seizures to be associated with more severe learning disability. Three subjects with interstitial triplications of 15q11-q13 showed a range of phenotypes similar to those of the typical large SMC(15). All additional copies of the PWACR in this series were maternally-derived. FISH and molecular data localizing the breakpoints of the rearrangements have been previously published or are included in this report. No correlations were found between specific clinical features and variations in breakpoints proximal and distal to the PWACR.
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PMID:Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13. 1647 Jul 30

Pseudohypoparathyroidism (PHP) is a rare inherited syndrome with several types. We reviewed the cases of 7 PHP patients seen between 1990 and 2003, and analyzed their clinical, biochemical data and long-term medical outcomes. Six boys and one girl were included. Two siblings showed Albright's hereditary osteodystrophy (AHO) and PHP Ia was impressed. The rest were suspected of PHP Ib. Their mean diagnosed age was 10.8 years and most had symptoms onset for several years before diagnosis. The most frequent initial presentations were seizure, followed by extremity muscle spasm, short stature, learning disability and psychomotor retardation. Mild thyrotropin elevation was noted in two patients of PHPIa. Early puberty onset, combined with bone age advancement was noted in the boy with PHP Ia, who had the shortest predicted adult height (PAH) (139.5 cm). The other 5 boys had normal PAH, mean 171.42 cm, and 4 male patients reached final height with a mean of 163.25 cm, close to their target heights. During treatment, 2 patients developed nephrocalcinosis. In conclusion, subtypes of PHP present heterogeneous phenotypes. Non-Ia subtypes might not be rare in Taiwan. Therefore, in hypocalcemic patients with mild high or normal parathyroid hormone (PTH), even in the absence of AHO, PHP should be ruled out. Regular renal sonography follow-up is recommended during therapy.
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PMID:Pseudohypoparathyroidism: report of seven cases. 1664 41


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