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Ataxia in Children

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1. Ataxia in children: think about vitamin E deficiency ! (comment on: ataxia in children: early recognition and clinical evaluation) (PubMed)

Ataxia in children: think about vitamin E deficiency ! (comment on: ataxia in children: early recognition and clinical evaluation) A recent article from Pavone et al. published in the Italian Journal of Pediatrics entitled «Ataxia in children: early recognition and clinical evaluation» made an exhaustive overview of the large spectrum of pediatric ataxias. However, we would underline the importance of considering hereditary ataxia due to isolated vitamin E deficiency as a specific and treatable (...) cause of child ataxia. We present a short clinical and therpeutic synopsis of this peculiar genetic etiology, frequently encountred in the mediterranean region.

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2017 Italian journal of pediatrics

2. Utility of Neuroimaging in Children Presenting to a Pediatric Emergency Department With Ataxia. (PubMed)

Utility of Neuroimaging in Children Presenting to a Pediatric Emergency Department With Ataxia. The aim of this study was to evaluate the utility of neuroimaging in children who present to the pediatric emergency department with acute-/subacute-onset ataxia. Neuroimaging is performed in many children with ataxia to rule out serious intracranial pathology. There is, however, limited evidence to support such practice.This was a retrospective review of electronic medical records of children who (...) (15.6%). Neuroimaging was performed in 104 children (73.8%). Neuroimaging was abnormal in 63 children (60.6%). However, these abnormalities were clinically significant in only 14 children (13.5%). Focal neurological findings were noted in 12 of 14 children (85.7%) with clinically significant neuroimaging.Clinically significant neuroimaging was noted in a minority of children who presented with acute/subacute ataxia. The majority of patients with clinically significant neuroimaging had focal

2019 Pediatric Emergency Care

3. Treatment for speech disorder in Friedreich ataxia and other hereditary ataxia syndromes. (PubMed)

in society. This in turn reduces quality of life. Given the harmful impact of speech disorder on a person's functioning, treatment of speech impairment in these conditions is important and evidence-based interventions are needed.To assess the effects of interventions for speech disorder in adults and children with Friedreich ataxia and other hereditary ataxias.On 14 October 2013, we searched the Cochrane Neuromuscular Disease Group Specialized Register, CENTRAL, MEDLINE, EMBASE, CINAHL Plus, PsycINFO (...) Treatment for speech disorder in Friedreich ataxia and other hereditary ataxia syndromes. Hereditary ataxia syndromes can result in significant speech impairment, a symptom thought to be responsive to treatment. The type of speech impairment most commonly reported in hereditary ataxias is dysarthria. Dysarthria is a collective term referring to a group of movement disorders affecting the muscular control of speech. Dysarthria affects the ability of individuals to communicate and to participate

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2014 Cochrane

4. Intravenous immunoglobulin with prednisone and risk-adapted chemotherapy for children with opsoclonus myoclonus ataxia syndrome associated with neuroblastoma (ANBL00P3): a randomised, open-label, phase 3 trial. (PubMed)

Intravenous immunoglobulin with prednisone and risk-adapted chemotherapy for children with opsoclonus myoclonus ataxia syndrome associated with neuroblastoma (ANBL00P3): a randomised, open-label, phase 3 trial. No previous clinical trial has been conducted for patients with neuroblastoma associated opsoclonus myoclonus ataxia syndrome (OMA), and current treatment is based on case reports. To evaluate the OMA response to prednisone and risk-adapted chemotherapy and determine if the addition (...) of intravenous gammaglobulin (IVIG) further improves response, the Children's Oncology Group designed a randomized therapeutic trial.Eligible subjects were randomized to receive twelve cycles of IVIG (IVIG+) or no IVIG (NO-IVIG) in addition to prednisone and neuroblastoma risk-adapted chemotherapy. All low-risk patients were treated with cyclophosphamide. The severity of OMA symptoms was evaluated at 2, 6, and 12 months using a scale developed by Mitchell and Pike and baseline versus best response scores

2018 The Lancet. Child & Adolescent Health

5. Treatment of cerebellar motor dysfunction and ataxia

Treatment of cerebellar motor dysfunction and ataxia Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia | Neurology Advertisement Search for this keyword Main menu User menu Search Search for this keyword The most widely read and highly cited peer-reviewed neurology journal Share March 06, 2018 ; 90 (10) Special Article Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia Report of the Guideline Development (...) (L.S.), Tübingen, Germany; Department of Neurology (R.M.D., G.S.D.), University of Kansas Medical Center, Kansas City; and Jiann-Ping Hsu College of Public Health (K.L.S.), Georgia Southern University, Statesboro. Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia Theresa A. Zesiewicz , George Wilmot , Sheng-Han Kuo , Susan Perlman , Patricia E. Greenstein , Sarah H. Ying , Tetsuo Ashizawa , S.H. Subramony , Jeremy D. Schmahmann , K.P. Figueroa , Hidehiro

2018 American Academy of Neurology

6. Audiological findings in children with ataxia-telangiectasia (A-T) syndrome. (PubMed)

Audiological findings in children with ataxia-telangiectasia (A-T) syndrome. To assess peripheral and central hearing in children with A-T.3 children diagnosed with A-T according to the diagnostic criteria for A-T of the European Society for Immunodeficiencies. Involuntary movements were seen in the form of chorea-athetosis together with tremors. They were examined to assess both peripheral and central hearing was assessed (hearing thresholds). Sound-field testing, tympanometry, acoustic (...) reflexes, Otoacoustic Emissions (OAEs) and Auditory Brainstem Responses (ABR) were done for all of them.Basic Audiological evaluation is of a limited value as the children are not co-operative. Sound field testing could not be done. Bilateral normal middle ear functions as reflected by Tympanometry and Acoustic Reflexes. Advanced Audiological evaluation including OAEs and ABR are more valuable in assessing hearing in children with A-T. Bilateral pass response at all test frequencies in DPOAEs. Abnormal

2017 International Journal of Pediatric Otorhinolaryngology

8. Treatment of acute leukemia in children with ataxia telangiectasia (A-T).

Treatment of acute leukemia in children with ataxia telangiectasia (A-T). Early onset ataxia telangiectasia (A-T) is a neurodegenerative DNA-instability disorder, which presents early in childhood. Hallmarks of A-T are progressive ataxia and a dramatic increased risk of developing malignancies (25%), especially of hematological origin. In children these malignancies mainly concern aggressive Non-Hodgkin lymphoma, acute leukemias and Hodgkin lymphoma. Of the acute leukemias, T-cell lymphoblastic (...) are high following upfront modified as well as unmodified treatment strategies. Treatment of ALL in children with A-T is feasible and should be performed. Definitive treatment strategy must be determined by shared decision making with patient, caretakers and medical team. Future prospective studies are needed to elucidate optimal treatment strategy.Copyright © 2016. Published by Elsevier Masson SAS.

2017 European journal of medical genetics

9. Ataxia in children: early recognition and clinical evaluation (PubMed)

Ataxia in children: early recognition and clinical evaluation Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance. It is mainly caused by dysfunction of the complex circuitry connecting the basal ganglia, cerebellum and cerebral cortex. A careful history, physical examination and some characteristic maneuvers are useful for the diagnosis of ataxia. Some of the causes of ataxia point toward a benign (...) course, but some cases of ataxia can be severe and particularly frightening.Here, we describe the primary clinical ways of detecting ataxia, a sign not easily recognizable in children. We also report on the main disorders that cause ataxia in children.The causal events are distinguished and reported according to the course of the disorder: acute, intermittent, chronic-non-progressive and chronic-progressive.Molecular research in the field of ataxia in children is rapidly expanding; on the contrary

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2017 Italian journal of pediatrics

10. Coordination Training With Complete Body Video Games in Children and Adults With Degenerative Ataxias

Coordination Training With Complete Body Video Games in Children and Adults With Degenerative Ataxias Coordination Training With Complete Body Video Games in Children and Adults With Degenerative Ataxias - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please (...) remove one or more studies before adding more. Coordination Training With Complete Body Video Games in Children and Adults With Degenerative Ataxias (Move'n Fun) The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our for details. ClinicalTrials.gov Identifier: NCT02874911 Recruitment Status : Completed First Posted : August 22, 2016 Last Update Posted

2016 Clinical Trials

11. Long-Term Safety Extension Study of ACTIMMUNE® (Interferon γ-1b) in Children and Young Adults With Friedreich's Ataxia

Long-Term Safety Extension Study of ACTIMMUNE® (Interferon γ-1b) in Children and Young Adults With Friedreich's Ataxia Long-Term Safety Extension Study of ACTIMMUNE® (Interferon γ-1b) in Children and Young Adults With Friedreich's Ataxia - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum (...) number of saved studies (100). Please remove one or more studies before adding more. Long-Term Safety Extension Study of ACTIMMUNE® (Interferon γ-1b) in Children and Young Adults With Friedreich's Ataxia (STEADFAST) The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our for details. ClinicalTrials.gov Identifier: NCT02797080 Recruitment Status

2016 Clinical Trials

12. Assessment of impaired coordination between respiration and deglutition in children and young adults with ataxia telangiectasia. (PubMed)

Assessment of impaired coordination between respiration and deglutition in children and young adults with ataxia telangiectasia. This cross-sectional investigation aimed to assess the value of non-invasive measures of temporal respiratory-swallow coupling in individuals with ataxic swallowing.Twenty participants (11 males, 9 females; range 9-21y) with ataxia telangiectasia were presented with water and pudding boluses. Their 193 swallows were compared with 2200 swallows from 82 age-matched (...) healthy controls. The two components of airway protection during swallowing that were analyzed were: direction of peri-deglutitive airflow and duration of deglutitive inhibition of respiratory airflow (DIORA).Safe expiratory patterns of peri-deglutitive airflow occurred significantly less often in participants with ataxia telangiectasia than in age-matched control participants (younger p<0.015 and older p<0.001). The frequency of an expiratory pattern of peri-deglutitive airflow increased with age

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2016 Developmental Medicine and Child Neurology

13. Ataxia in Children

Ataxia in Children Ataxia in Children Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration 4 Ataxia in Children Ataxia in Children Aka (...) : Ataxia in Children , Pediatric Ataxia , Opsoclonus-myoclonus syndrome , Acute Demyelinating Encephalomyelitis , Acute Disseminated Encephalomyelitis , Acute Cerebellar Ataxia From Related Chapters II. Causes See for causes seen in both adults and children Congenital malformations Acute Cerebellar Ataxia Follows febrile illness by 7-10 days, especially in males (see infections below) Autoimmune mediated demyelination Maximal findings at onset, most significantly affecting truncal Presents with normal

2018 FP Notebook

14. Growth and nutrition in children with ataxia telangiectasia. (PubMed)

Growth and nutrition in children with ataxia telangiectasia. Ataxia telangiectasia (A-T) is a rare multisystem disease with high early mortality from lung disease and cancer. Nutritional failure adversely impacts outcomes in many respiratory diseases. Several factors influence nutrition in children with A-T. We hypothesised that children with A-T have progressive growth failure and that early gastrostomy tube feeding (percutaneous endoscopic gastrostomy, PEG) is a favourable management option (...) with good nutritional outcomes.Data were collected prospectively on weight, height and body mass index (BMI) at the national paediatric A-T clinic. Adequacy and safety of oral intake was assessed. Nutritional advice was given at each multidisciplinary review.101 children (51 girls) had 222 measurements (32 once, 32 twice, 24 thrice) between 2009 and 2016. Median (IQR) age was 9.3 (6.4 to 13.1) years. Mean (SD) weight, height and BMI Z-scores were respectively -1 (1.6), -1.2 (1.2) and -0.4 (1.4). 35/101

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2016 Archives of Disease in Childhood

15. Opsoclonus myoclonus ataxia syndrome due to falciparum malaria in two Indian children (PubMed)

Opsoclonus myoclonus ataxia syndrome due to falciparum malaria in two Indian children Opsoclonus-myoclonus ataxia (OMA) syndrome is rare in children, mostly caused by neuroblastoma. Here, we present two very rare cases presenting with OMA due to falciparum malaria. Both of them responded to a high dose of adrenocorticotrophin hormone and intravenous immunoglobulin without recurrence and complication.

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2016 Indian journal of ophthalmology

16. Unreported clinical trial of the week: Gabapentin for cerebellar ataxia in degenerative and inflammatory CNS-disease (2008-005167-33)

Unreported clinical trial of the week: Gabapentin for cerebellar ataxia in degenerative and inflammatory CNS-disease (2008-005167-33) Unreported clinical trial of the week: Gabapentin for cerebellar ataxia in degenerative and inflammatory CNS-disease (2008-005167-33) - The BMJ ---> Nick DeVito and Ben Goldacre Background The US FDA Amendments Act (FDAAA 2007) requires certain clinical trials to report their results onto ClinicalTrials.gov within one year of completion. European Union (EU (...) ) guidelines are broader: they require all trials of medicinal products registered on their (EUCTR) since 2004 to report results within one year of completion. Our and show all individual trials that breach these legal requirements. Each week we write about one unreported clinical trial: you can read more background , and past entries are . This week’s trial This week’s unreported trial is: “Effect of gabapentin as symptomatic therapy for cerebellar ataxia in degenerative and inflammatory CNS-disease

2018 The BMJ Blog

17. Acute ataxia in paediatric emergency departments: a multicentre Italian study. (PubMed)

Acute ataxia in paediatric emergency departments: a multicentre Italian study. To evaluate the causes and management of acute ataxia (AA) in the paediatric emergency setting and to identify clinical features predictive of an underlying clinically urgent neurological pathology (CUNP).This is a retrospective medical chart analysis of children (1-18 years) attending to 11 paediatric emergency departments (EDs) for AA in an 8-year period. A logistic regression model was applied to identify clinical (...) risk factors for CUNP.509 patients (mean age 5.8 years) were included (0.021% of all ED attendances). The most common cause of AA was acute postinfectious cerebellar ataxia (APCA, 33.6%). Brain tumours were the second most common cause (11.2%), followed by migraine-related disorders (9%). Nine out of the 14 variables tested showed an OR >1. Among them, meningeal and focal neurological signs, hyporeflexia and ophthalmoplegia were significantly associated with a higher risk of CUNP (OR=3-7.7, p<0.05

2019 Archives of Disease in Childhood

18. Novel ELOVL4 mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34) (PubMed)

Novel ELOVL4 mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34) 30065956 2018 11 14 2376-7839 4 4 2018 Aug Neurology. Genetics Neurol Genet Novel ELOVL4 mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34). e263 10.1212/NXG.0000000000000263 Bourque Pierre R PR Department of Medicine (Neurology) (P.R.B., J.W-C., D.A.L.), University of Ottawa; Ottawa Hospital Research Institute (P.R.B., J.W-C.); Department of Medicine (Dermatology) (L.L (...) ., C.K.), University of Ottawa; Department of Anatomical Pathology (S.H.B.), University of Ottawa; and Department of Genetics (J.W-C., T.H., K.M.B.), Children's Hospital of Eastern Ontario, Ottawa, Canada. Warman-Chardon Jodi J Department of Medicine (Neurology) (P.R.B., J.W-C., D.A.L.), University of Ottawa; Ottawa Hospital Research Institute (P.R.B., J.W-C.); Department of Medicine (Dermatology) (L.L., C.K.), University of Ottawa; Department of Anatomical Pathology (S.H.B.), University of Ottawa

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2018 Neurology: Genetics

19. Open-label, Long-term, Extension Treatment Using Intra-Erythrocyte Dexamethasone Sodium Phosphate in Patients With Ataxia Telangiectasia Who Participated in the IEDAT-02-2015 Study

Open-label, Long-term, Extension Treatment Using Intra-Erythrocyte Dexamethasone Sodium Phosphate in Patients With Ataxia Telangiectasia Who Participated in the IEDAT-02-2015 Study Open-label, Long-term, Extension Treatment Using Intra-Erythrocyte Dexamethasone Sodium Phosphate in Patients With Ataxia Telangiectasia Who Participated in the IEDAT-02-2015 Study - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results (...) information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more. Open-label, Long-term, Extension Treatment Using Intra-Erythrocyte Dexamethasone Sodium Phosphate in Patients With Ataxia Telangiectasia Who Participated in the IEDAT-02-2015 Study (OLE-IEDAT) The safety and scientific validity of this study is the responsibility of the study sponsor and investigators

2018 Clinical Trials

20. Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy (PubMed)

Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy 29472272 2019 02 16 1468-330X 89 11 2018 Nov Journal of neurology, neurosurgery, and psychiatry J. Neurol. Neurosurg. Psychiatry Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy. 1230-1232 10.1136/jnnp-2017-317581 O'Connor Emer E Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK. Vandrovcova Jana J Department of Molecular Neuroscience, Institute of Neurology (...) College London, London, UK. Marino Silvia S Department of Neuropathology, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK. Manzur Adnan Y AY Department of Neurology, Great Ormond Street Hospital for Children, London, UK. Roberts Mark M Department of Neurology, Salford Royal NHS Foundation Trust, Manchester, UK. Hanna Michael G MG Medical Research Council Center for Neuromuscular Diseases, University College London and National Hospital for Neurology

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2018 Journal of neurology, neurosurgery, and psychiatry

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