1,720,993 research outputs found
Epilepsy and genetic in Rett syndrome: A review.
No full textINTRODUCTION:
Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder that primarily affects girls, with an incidence of 1:10,000-20,000. The diagnosis is based on clinical features: an initial period of apparently normal development (ages 6-12 months) followed by a rapid decline with regression of acquired motor skills, loss of spoken language and purposeful hand use, onset of hand stereotypes, abnormal gait, and growth failure. The course of the disease, in its classical form, is characterized by four stages. Three different atypical variants of the disease have been defined. Epilepsy has been reported in 60%-80% of patients with RTT; it differs among the various phenotypes and genotypes and its severity is an important contributor to the clinical severity of the disease.
METHODS:
In this manuscript we reviewed literature on RTT, focusing on the different genetic entities, the correlation genotype-phenotype, and the peculiar epileptic phenotype associated to each of them.
RESULTS:
Mutations in MECP2 gene, located on Xq28, account for 95% of typical RTT cases and 73.2% of atypical RTT. CDKL5 and FOXG1 are other genes identified as causative genes in atypical forms of RTT. In the last few years, a lot of new genes have been identified as causative genes for RTT phenotype.
CONCLUSIONS:
Recognizing clinical and EEG patterns in different RTT variants may be useful in diagnosis and management of these patients
Topiramate in children and adolescents with epilepsy and mental retardation: a prospective study on behavior and cognitive effects.
Full text linkThe aim of the present study was to assess the behavioral and cognitive effects following treatment with topiramate in children and
adolescents with epilepsy with mild to profound mental retardation. The study group comprised 29 children, 16 males and 13 females,
aged 3 to 19 years, affected by partial (4) and generalized (25) crypto/symptomatic epilepsy and mental retardation (7 mild, 5 moderate,
15 severe, 2 profound), who were administered topiramate (TPM) as add-on therapy to their baseline antiepileptic treatment. At baseline,
3 months, 6 months, and 12 months, parents or caregivers of each patient were administered a questionnaire based on the Holmfrid
Quality of Life Inventory. After a 3-month follow-up, the add-on topiramate caused overall mild to moderate cognitive/behavioral worsening
in about 70% of children and adolescents with mental retardation and epilepsy. After 6 and 12 months of follow-up, global worsening
persisted in 31 and 20.1% of cases, respectively. In conclusion, this trial confirms that TPM can have significant adverse cognitive
and behavioral side effects, even in mentally disabled children and adolescents.
2007 Elsevier Inc. All rights reserved
Levetiraetam or oxcarbazepine as monotherapy in newly diagnosed benign rolandic seizures in children: ano pel-label, parallel group study
No full textKetogenic diet for the treatment of catastrophic epileptic encephalopathies in childhood
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Qualitative and quantitative revaluation of specific learning disabilities: a multicentric study
No full textLevetiracetam in monoterapia o add-on in bambini e adolescenti con epilessia: follow-up a medio e lungo termine
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Bone mineral density in children, adolescents, and young adults with epilepsy.
No full textPURPOSE: The aim of this study was to assess bone mineral density (BMD) in a large population of children, adolescents, and young adults with epilepsy alone or in association with cerebral palsy and/or mental retardation.
METHODS: Ninety-six patients were enrolled in the study. The group comprised 50 males and 46 females, aged between 3 and 25 years (mean age 11 years). The control group consisted of 63 healthy children and adolescents (23 males, 40 females), aged between 3 and 25 years (mean age 12.1 years). Patients underwent a dual-energy x-ray absorptiometry (DEXA) scan of the lumbar spine (L1-L4) and the z scores were calculated for each patient; the t score was considered for patients 18 years of age or older.
RESULTS: Abnormal BMD was found in 56 patients (58.3%), with values documenting osteopenia in 42 (75%) and osteoporosis in 14 (25%). A significant difference emerged between epileptic patients and the control group in BMD, z score, and body mass index (BMI) (p = <0.001). Lack of autonomous gait, severe mental retardation, long duration of antiepileptic treatment, topiramate adjunctive therapy, and less physical activity significantly correlated with abnormal BMD.
DISCUSSION: This study detected abnormal BMD in more than half of a large pediatric population with epilepsy with or without cerebral palsy and/or mental retardation. The clinical significance of these findings has yet to be clarified
La melatonina nei disturbi del ritmo sonno/veglia di bambini, adolescenti e giovani adulti affetti da ritardo mentale associato o mneo ad epilessia: un trial clinico in doppio cieco, crociato, controllato versus placebo
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