7 results on '"Spiel G"'
Search Results
2. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood
- Author
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Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S, Panagiotakaki E, European Alternating Hemiplegia of Childhood Genetics Consortium, Neri G, Koelewijn S, Kamphorst J, Geilenkirchen M, Pelzer N, Laan L, Haan J, Ferrari M, van den Maagdenberg A, Biobanca e. Registro Clinico per l'Emiplegia Alternante Consortium, Zucca C, Bassi MT, Franchini F, Vavassori R, Giannotta M, Gobbi G, Granata T, Nardocci N, De Grandis E, Veneselli E, Stagnaro M, Vigevano F, European Network for Research on Alternating Hemiplegia for Small, Medium sized Enterpriese Consortium, Oechsler C, Arzimanoglou A, Ninan M, Neville B, Ebinger F, Fons C, Campistol J, Kemlink D, Nevsimalova S, Peeters Scholte C, Casaer P, Sange G, Spiel G, Martinelli Boneschi F, Schyns T, Crawley F, Poncelin D, Fiori S, Abiusi E, Di Pietro L, Sweney MT, Newcomb TM, Viollet L, Huff C, Jorde LB, Reyna SP, Murphy KJ, Shianna KV, Gumbs CE, Little L, Silver K, Ptáček LJ, Ferrari MD, Bye AM, Herkes GK, Whitelaw CM, Webb D, Lynch BJ, Uldall P, King MD, Scheffer IE, van den Maagdenberg AM, Sisodiya SM, Mikati MA, Goldstein D.B., CASARI , GIORGIO NEVIO, Heinzen, El, Swoboda, Kj, Hitomi, Y, Gurrieri, F, Nicole, S, de Vries, B, Tiziano, Fd, Fontaine, B, Walley, Nm, Heavin, S, Panagiotakaki, E, European Alternating Hemiplegia of Childhood Genetics, Consortium, Neri, G, Koelewijn, S, Kamphorst, J, Geilenkirchen, M, Pelzer, N, Laan, L, Haan, J, Ferrari, M, van den Maagdenberg, A, Biobanca e., Registro Clinico per l'Emiplegia Alternante Consortium, Zucca, C, Bassi, Mt, Franchini, F, Vavassori, R, Giannotta, M, Gobbi, G, Granata, T, Nardocci, N, De Grandis, E, Veneselli, E, Stagnaro, M, Vigevano, F, European Network for Research on Alternating Hemiplegia for, Small, Medium sized Enterpriese, Consortium, Oechsler, C, Arzimanoglou, A, Ninan, M, Neville, B, Ebinger, F, Fons, C, Campistol, J, Kemlink, D, Nevsimalova, S, Peeters Scholte, C, Casaer, P, Casari, GIORGIO NEVIO, Sange, G, Spiel, G, Martinelli Boneschi, F, Schyns, T, Crawley, F, Poncelin, D, Fiori, S, Abiusi, E, Di Pietro, L, Sweney, Mt, Newcomb, Tm, Viollet, L, Huff, C, Jorde, Lb, Reyna, Sp, Murphy, Kj, Shianna, Kv, Gumbs, Ce, Little, L, Silver, K, Ptáček, Lj, Ferrari, Md, Bye, Am, Herkes, Gk, Whitelaw, Cm, Webb, D, Lynch, Bj, Uldall, P, King, Md, Scheffer, Ie, van den Maagdenberg, Am, Sisodiya, Sm, Mikati, Ma, and Goldstein, D. B.
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Nonsynonymous substitution ,Genetics ,0303 health sciences ,Mutation ,Alternating hemiplegia of childhood ,Neurological disorder ,Biology ,Settore MED/03 - GENETICA MEDICA ,medicine.disease ,medicine.disease_cause ,Alternating Hemiplegia ,Article ,3. Good health ,03 medical and health sciences ,0302 clinical medicine ,ATP1A3 ,medicine ,Etiology ,030217 neurology & neurosurgery ,Alternating hemiplegia ,Exome sequencing ,030304 developmental biology - Abstract
Alternating hemiplegia of childhood (AHC) is a rare, severe neurodevelopmental syndrome characterized by recurrent hemiplegic episodes and distinct neurological manifestations. AHC is usually a sporadic disorder and has unknown etiology. We used exome sequencing of seven patients with AHC and their unaffected parents to identify de novo nonsynonymous mutations in ATP1A3 in all seven individuals. In a subsequent sequence analysis of ATP1A3 in 98 other patients with AHC, we found that ATP1A3 mutations were likely to be responsible for at least 74% of the cases; we also identified one inherited mutation in a case of familial AHC. Notably, most AHC cases are caused by one of seven recurrent ATP1A3 mutations, one of which was observed in 36 patients. Unlike ATP1A3 mutations that cause rapid-onset dystonia-parkinsonism, AHC-causing mutations in this gene caused consistent reductions in ATPase activity without affecting the level of protein expression. This work identifies de novo ATP1A3 mutations as the primary cause of AHC and offers insight into disease pathophysiology by expanding the spectrum of phenotypes associated with mutations in ATP1A3.
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- 2012
3. Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults
- Author
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Panagiotakaki, E, Gobbi, G, Neville, B, Ebinger, F, Campistol, J, Nevsímalová, S, Laan, L, Casaer, P, Spiel, G, Giannotta, M, Fons, C, Ninan, M, Sange, G, Schyns, T, Vavassori, R, Poncelin, D, Arzimanoglou, A, CASARI , GIORGIO NEVIO, The ENRAH Consortium, Panagiotakaki, E, Gobbi, G, Neville, B, Ebinger, F, Campistol, J, Nevsímalová, S, Laan, L, Casaer, P, Spiel, G, Giannotta, M, Fons, C, Ninan, M, Sange, G, Schyns, T, Vavassori, R, Poncelin, D, Arzimanoglou, A, Casari, GIORGIO NEVIO, and The ENRAH, Consortium
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Registrie ,Male ,Aging ,Pediatrics ,Neurological disorder ,Functional Laterality ,Cohort Studies ,Disability Evaluation ,Epilepsy ,Ocular Motility Disorders ,Retrospective Studie ,Surveys and Questionnaires ,ATP1A3 ,Surveys and Questionnaire ,Sleep Wake Disorder ,Registries ,Child ,Data Collection ,Headache ,Middle Aged ,Autonomic Nervous System Disease ,Seizure ,Europe ,Treatment Outcome ,Child, Preschool ,Data Interpretation, Statistical ,Disease Progression ,Female ,Psychology ,Human ,Cohort study ,Adult ,Sleep Wake Disorders ,medicine.medical_specialty ,adulthood ,Adolescent ,sudden death ,Hemiplegia ,Sudden death ,Young Adult ,Seizures ,alternating hemiplegia ,evolution ,medicine ,Humans ,Ocular Motility Disorder ,Retrospective Studies ,Alternating hemiplegia of childhood ,Infant ,Retrospective cohort study ,medicine.disease ,Autonomic Nervous System Diseases ,AHC ,Physical therapy ,Neurology (clinical) ,Cohort Studie ,Alternating hemiplegia ,alternating hemiplegia AHC evolution adulthood sudden death no mutations complicated migraine flunarizine atp1a2 gene topiramate infancy - Abstract
Alternating hemiplegia of childhood is a neurological disorder characterized by episodes of hemiplegia, various non-epileptic paroxysmal events and global neurological impairment. Characterization of the evolution and outcome into adulthood has not been sufficiently investigated. The goal of this study was to elucidate the natural history of alternating hemiplegia within a large cohort of 157 patients, as part of the European Network for Research on Alternating Hemiplegia project. A questionnaire was formulated to determine the severity of both paroxysmal and global neurological impairment and address progression of the disorder by allocating data to specific age epochs up to and over 24 years of age. Patients in early age groups were consistently present in subsequent later age groups and for each patient, data were collected for each corresponding age epoch. The study was based on predominantly retrospective and, for a period of 2 years, prospective data. At inclusion, patients were aged from 9 months to 52 years. The median age at diagnosis was 20 months. All patients experienced hemiplegic attacks; 86.5% reported episodes of bilateral weakness, 88% dystonic attacks, 53% epileptic seizures, 72% developed chorea and/or dystonia and 92% mental retardation. When data over the course of the illness were examined for the whole cohort, the severity of symptoms did not appear to change, with the exception of abnormal ocular movements and hypotonia that regressed, but did not disappear into adulthood (from 86 to 36% and 76 to 36%, respectively). No statistically significant correlation between a history of severe paroxysmal hemiplegic/dystonic episodes and a worse neurological outcome was identified. Seven patients died, some of whom experienced severe plegic attacks or epileptic seizures at the time of death. History of severe plegic/dystonic attacks was not found to be an aggravating factor for deceased patients. Our results provide evidence that the natural history of alternating hemiplegia is highly variable and unpredictable for individual patients. However, we did not find evidence to support a steadily progressive and degenerative course of the disorder when patients were analysed as a group. For a minority of patients, a risk of sudden death was associated with more severe neurological impairment. The European Network for Research on Alternating Hemiplegia Registry, validated by our study, includes all major neurological signs and symptoms of alternating hemiplegia and may thus be used as a precedent for the progressive inclusion and follow-up of patients as well as a reference for genetic studies and treatment trials.
- Published
- 2010
4. Co-existing psychiatric problems in ADHD in the ADORE cohort
- Author
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Steinhausen, Hans Christoph, Nøvik, Torunn Stene, Baldursson, Gisli, Curatolo, Paolo, Lorenzo, Maria J., Rodrigues Pereira, Rob, Ralston, Stephen J., Rothenberger, Aribert, Coghill, D., Dalsgaard, S., Döpfner, M., Falissard, B., Hervas, A., Le Heuzey, M. F., Preuss, U., Rasmussen, P., Riley, A. W., Spiel, G., Vlasveld, L., and University of Zurich
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Male ,medicine.medical_specialty ,Adolescent ,Child Behavior ,610 Medicine & health ,Comorbidity ,Severity of Illness Index ,142-005 142-005 ,Cohort Studies ,Co-existing disorders ,2738 Psychiatry and Mental Health ,Surveys and Questionnaires ,mental disorders ,Developmental and Educational Psychology ,medicine ,Child and adolescent psychiatry ,Humans ,Attention deficit hyperactivity disorder ,ADHD ,Longitudinal Studies ,2735 Pediatrics, Perinatology and Child Health ,Child ,Psychiatry ,Children ,Analysis of Variance ,3204 Developmental and Educational Psychology ,Mental Disorders ,General Medicine ,Strengths and Difficulties Questionnaire ,medicine.disease ,Mental health ,Europe ,Psychiatry and Mental health ,Adolescent Behavior ,Attention Deficit Disorder with Hyperactivity ,Conduct disorder ,Pediatrics, Perinatology and Child Health ,Quality of Life ,Anxiety ,Female ,medicine.symptom ,Psychology ,Psychosocial - Abstract
Objective : To study the impact of co-existing psychiatric problems with ADHD on behavioural features, psychosocial functioning and quality of life in subjects of the ADORE cohort (N=1,478). Methods : The following six groups of associated psychiatric problems with ADHD were compared: oppositional-defiant disorder or conduct disorder only (ODD/CD); anxiety or depressive disorder only (ANX/DEP); tic/Tourette's disorder only (TIC/ Tourette's); developmental co-ordination disorder only (DCD); two or more associated conditions; and none. Dependent variables included the ADHD Rating Scale-IV, the Strengths and Difficulties Questionnaire, the Clinical Global Impression-Severity scale, the Children's Global Assessment Scale and the Child Health Illness Profile-Child Edition. Results : Having multiple co-existing psychiatric problems increased the severity of ADHD in all domains, be it behavioural features, psychosocial impairment or deterioration of quality of life. A similar though less consistent pattern applied to subjects with co-existing ODD/CD. Conclusions : The ADORE study provides impressive evidence for the far-reaching consequences of co-existing psychiatric problems in children with ADHD that warrant intensive consideration in clinical assessment and treatment
- Published
- 2006
5. Study design, baseline patient characteristics and intervention in a cross-cultural framework: results from the ADORE study
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Preuss, Ulrich, Ralston, Stephen J., Baldursson, Gisli, Falissard, Bruno, Lorenzo, Maria J., Rodrigues Pereira, Rob, Vlasveld, Laurens, Coghill, David, Curatolo, P., Dalsgaard, S., Döpfner, M., Hervas, A., Le Heuzey, M. F., Nøvik, T. S., Rasmussen, P., Riley, A. W., Rothenberger, A., Spiel, G., and Steinhausen, H. C.
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Research design ,Quality of life ,Cross-Cultural Comparison ,Male ,medicine.medical_specialty ,Pediatrics ,Adolescent ,Comorbidity ,Severity of Illness Index ,Rating scale ,mental disorders ,Developmental and Educational Psychology ,Child and adolescent psychiatry ,medicine ,Attention deficit hyperactivity disorder ,ADHD ,Humans ,Prospective Studies ,Psychiatry ,Child ,Children ,Demography ,Mental Disorders ,General Medicine ,medicine.disease ,Combined Modality Therapy ,Europe ,Psychotherapy ,Psychiatry and Mental health ,Regimen ,Treatment Outcome ,Attention Deficit Disorder with Hyperactivity ,Research Design ,Pediatrics, Perinatology and Child Health ,Symptoms ,Quality of Life ,Observational study ,Female ,Psychology - Abstract
Objective : To describe the methodology and to present the baseline findings of the Attention-deficit/hyperactivity Disorder Observational Research in Europe (ADORE) study, the primary objective of which is to describe the relationship between treatment regimen prescribed and quality of life of children with ADHD in actual practice. Methods : In this 2-year prospective observational study, data on diagnosis, prescribed treatment and outcomes of ADHD were collected at seven time points by paediatricians and child psychiatrists on 1,573 children recruited in 10 European countries. The data presented here from the 1,478 patients included in the analyses describe the baseline condition, initial treatment regimen prescribed and quality of life of families with children with ADHD. Results : Patients had a mean age of 9.0 years (SD 2.5) and 84% were male. Physicians diagnoses were made using DSM-IV (43 %), ICD-10 (32%) and both DSM-IV and ICD-10 (12 %). Mean age of awareness of a problem was 5.1 years, suggesting an average delay of approximately 4 years between awareness and diagnosis of ADHD. Baseline ADHD rating scale scores (physicianrated) indicated moderate to severe ADHD. Parent-rated SDQ scores were in agreement and suggested significant levels of co-existing problems. CGI-S, CGAS and CHIPCE scores also indicated significant impairment. Patients were offered the following treatments after the initial assessment: pharmacotherapy (25 %), psychotherapy (19 %), combination of pharmacotherapy and psychotherapy (25 %), other therapy (10 %) and no treatment (21 %). Conclusion : The ADORE study shows that ADHD is similarly recognised across 10 European countries and that the children are significantly impaired across a wide range of domains. In this respect, they resemble children described in previous ADHD samples
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- 2006
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6. A 3-month assessment of treatment prescribed to patients with ADHD and its impact on clinical severity and QOL outcomes across 10 European countries. Results from Attention Deficit/Hyperactivity Disoder observational research in Europe (ADORE)
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Mata Lorenzo, M.J., Poole, L., Spiel, G., Dalsgaard, Søren, Fallisard, B., Le Heuzey, M. F., Rothenberger, A., Döpfner, M, Baldursson, G., Curatolo, P., Pereira, R. R., Vlasveld, L., Nøvik, T., Hervas, A., Preuss, U., Steinhausen, H. C., Rasmussen, P., Coghill, D., Riley, A. W., and Forrest, C. B.
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- 2006
7. ADORE - Attention-Deficit Hyperactivity Disorder Observational Research in Europe
- Author
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Ralston, Stephen J., Lorenzo, M. J.M., Baldursson, G., Coghill, D., Curatolo, P., Dalsgaard, S., Döpfner, M., Falissard, B., Forrest, C. B., Hervas, A., Le Heuzey, M. F., Nøvik, T. S., Pereira, R. R., Preuss, U., Rasmussen, P., Rothenberger, Aribert, Riley, A. W., Spiel, G., Steinhausen, H. C., and Vlasveld, L.
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Mental Health Services ,Male ,Quality of life ,medicine.medical_specialty ,Adolescent ,medicine.medical_treatment ,Severity of Illness Index ,Quality of life (healthcare) ,Mental Health Services/organization & administration ,Attention Deficit Disorder with Hyperactivity/diagnosis ,Developmental and Educational Psychology ,medicine ,Child and adolescent psychiatry ,Humans ,Attention deficit hyperactivity disorder ,ADHD ,Prospective Studies ,Child ,Psychiatry ,Children ,Social environment ,General Medicine ,medicine.disease ,Mental health ,Diagnostic and Statistical Manual of Mental Disorders ,Europe ,Psychiatry and Mental health ,Attention Deficit Disorder with Hyperactivity ,Naturalistic care ,Pediatrics, Perinatology and Child Health ,Quality of Life ,Cognitive therapy ,Female ,Observational study ,Psychology ,Follow-Up Studies ,Psychopathology - Abstract
BACKGROUND: Since there is little information about the naturalistic way of treatment in daily European practice, the Attention-Deficit Hyperactivity Disorder Observational Research in Europe (ADORE) project was designed as a prospective, non-interventional study of approximately 1,500 patients observed by approximately 300 investigators in various European regions.OBJECTIVE: The primary objective is the description of the relationship between treatment regimen prescribed and quality of life in ADHD patients over a two-year period.METHOD: The naturalistic care provided and the outcomes (psychopathology, quality of life) are recorded at 7 data collection points.RESULTS: The present preliminary report provides data on the first 315 patients who were included in the study by the beginning of January 2004. The data provide an impression of the sample characteristics, the clinical diversity, and the effects of ADHD on school careers and social activities. Furthermore, treatment information dealing with the time both before and at baseline is given.CONCLUSION: Even with this limited sample the negative effects on psychosocial development and quality of life in ADHD children are apparent.
- Published
- 2004
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