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de Diego-Otero Y.,Hospital Regional Universitario Of Malaga | Calvo-Medina R.,Hospital Regional Universitario Of Malaga | Quintero-Navarro C.,Hospital Regional Universitario Of Malaga | Sanchez-Salido L.,Hospital Regional Universitario Of Malaga | And 7 more authors.
Trials | Year: 2014

Background: Fragile X syndrome (FXS) is an inherited neurodevelopmental condition characterised by behavioural, learning disabilities, phisical and neurological symptoms. In addition, an important degree of comorbidity with autism is also present. Considered a rare disorder affecting both genders, it first becomes apparent during childhood with displays of language delay and behavioural symptoms.Main aim: To show whether the combination of 10 mg/kg/day of ascorbic acid (vitamin C) and 10 mg/kg/day of α-tocopherol (vitamin E) reduces FXS symptoms among male patients ages 6 to 18 years compared to placebo treatment, as measured on the standardized rating scales at baseline, and after 12 and 24 weeks of treatment.Secondary aims: To assess the safety of the treatment. To describe behavioural and cognitive changes revealed by the Developmental Behaviour Checklist Short Form (DBC-P24) and the Wechsler Intelligence Scale for Children-Revised. To describe metabolic changes revealed by blood analysis. To measure treatment impact at home and in an academic environment.Methods/Design: A phase II randomized, double-blind pilot clinical trial. Scope: male children and adolescents diagnosed with FXS, in accordance with a standardized molecular biology test, who met all the inclusion criteria and none of the exclusion criteria. Instrumentation: clinical data, blood analysis, Wechsler Intelligence Scale for Children-Revised, Conners parent and teacher rating scale scores and the DBC-P24 results will be obtained at the baseline (t0). Follow up examinations will take place at 12 weeks (t1) and 24 weeks (t2) of treatment.Discussion: A limited number of clinical trials have been carried out on children with FXS, but more are necessary as current treatment possibilities are insufficient and often provoke side effects. In the present study, we sought to overcome possible methodological problems by conducting a phase II pilot study in order to calculate the relevant statistical parameters and determine the safety of the proposed treatment. The results will provide evidence to improve hyperactivity control and reduce behavioural and learning problems using ascorbic acid (vitamin C) and α-tocopherol (vitamin E). The study protocol was approved by the Regional Government Committee for Clinical Trials in Andalusia and the Spanish agency for drugs and health products. Trial registration: ClinicalTrials.gov Identifier: NCT01329770 (29 March 2011). © 2014 de Diego-Otero et al.; licensee BioMed Central Ltd. Source

Aim. To determine whether attention deficit hyperactivity disorder (ADHD) is associated with other prevalent medical pathologies of the paediatric age. Development. Several paediatric pathologies were selected with the aim of reviewing their association with ADHD: in paediatric pulmonology, asthma and other allergic processes; in paediatric neurology, headache and febrile seizures; in paediatric gastroenterology, diarrhoea, constipation, abdominal pain, gastroesophageal reflux and infection by Helicobacter pylori; in paediatric nephrology, enuresis; in paediatric cardiology, bruits and congenital heart disease; in paediatric endocrinology, thyroid disorders and obesity; and in paediatric ophthalmology, ametropia and strabismus. Conclusions. Several studies were found that related ADHD with allergic processes, overweight/obesity, peripheral resistance to thyroid hormone, enuresis, febrile seizures, headache, congenital heart disease, ophthalmic disorders and tooth decay, with some controversial issues and details still to be defined. It can be concluded that further interdisciplinary studies are needed to clarify the associations and underlying mechanisms involved, so as to be able to gain a deeper understanding of the complex entity of ADHD and to suggest preventive, diagnostic and therapeutic interventions with regard to its comorbidities. © 2015 Revista de Neurología. Source

Pias-Peleteiro L.,Complexo Hospitalario Universitario Of Santiago | Pias-Peleteiro J.M.,Servicio de Neuropediatria | Arias M.,Complexo Hospitalario Universitario Of Santiago
Revista de Neurologia | Year: 2015

Introduction. Human T-lymphotropic virus 1 (HTLV-1) associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a prevalent disease in certain tropical regions endemic for HTLV-1, being a rare entity in areas such as Europe and North America. Case reports. We report two new cases of HAM/TSP in Caucasians, native from Galicia, Spain. Serum and cerebrospinal fluid (CSF) analysis, clinical neurophysiology studies and brain and spinal cord MRI scans were performed. Both patients presented a progressive chronic myelopathy, evolving to spastic paraparesis; one of them presenting with uveitis, prior to the onset of neurological symptoms. CSF analysis revealed mild lymphocytic pleocytosis and increased protein concentration with positive anti-HTLV-1 antibodies. Polymerase chain reaction was positive for HTLV-1. Oligoclonal bands were not detected. In one of the patients, MRI scans did not reveal abnormalities whilst in the other there was an elongated high intensity lesion at the thoracic spinal cord level, which resolved after treatment. No evidence of peripheral neuropathy was found. Corticosteroids and interferon alpha therapy was started, with moderate functional improvement. A history of unprotected sexual relationships while travelling to HTLV-1 endemic areas was revealed. Conclusions. HTLV-1-associated uveitis may predict HAM/TSP. HAM/TSP is probably an underdiagnosed disease due to the high prevalence of asymptomatic carriers, insidious clinical presentation and low suspicion index in non-endemic regions for HTLV-1. In non-tropical countries, HAM/TSP should not only be suspected in migrants from endemic areas for HTLV-1, but also in patients from communities with a tradition of migration to tropical countries. © 2015 Revista de Neurología. Source

Carreno O.,University of Barcelona | Carreno O.,CIBER ISCIII | Garcia-Silva M.T.,Hospital Universitario La Paz | Garcia-Campos A.,Servicio de Neuropediatria | And 4 more authors.
Headache | Year: 2011

We report the case of a 9-year-old girl with early-onset developmental delay, chronic ataxia and prolonged hemiplegic migraine episodes bringing about progressive deterioration. Two days into one episode, diffusion-weighted magnetic resonance imaging disclosed unilateral striatal abnormal signal consistent with cytotoxic edema, which evolved into atrophy on follow-up scans. Mutational screen of CACNA1A gene identified a de novo p.Tyr1387Cys mutation. © 2011 American Headache Society. Source

Roubertie A.,Commission Mouvements Anormaux | Roubertie A.,French Institute of Health and Medical Research | Mariani L.L.,Hopital Pitie Salpetriere | Fernandez-Alvarez E.,Servicio de Neuropediatria | And 3 more authors.
European Journal of Neurology | Year: 2012

Management of childhood dystonia differs in certain respects from that of adult dystonia: (i) childhood dystonia is more often secondary than primary; (ii) mixed motor disorders are frequent; (iii) in children, the course of dystonia may be influenced by ongoing brain maturation and by the remarkable plasticity of the young brain; (iv) drug tolerability and effectiveness can be different in children; (v) the therapeutic strategy must be discussed with both the patient and his or her parents; and (vi) the child's education must be taken into account. Based on a systematic review of the literature through June 2011 and on our personal experience, we propose a therapeutic approach to childhood dystonia. After a detailed clinical evaluation and a comprehensive work-up to rule out a treatable cause of dystonia, symptomatic treatment may include various drugs, local botulinum toxin injections, and deep brain stimulation, in addition to rehabilitation. © 2012 EFNS. Source

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