1,903 results match your criteria European Journal of Paediatric Neurology[Journal]


Spectrum of the neurologic manifestations in childhood-onset cryopyrin-associated periodic syndrome.

Eur J Paediatr Neurol 2019 Mar 28. Epub 2019 Mar 28.

Department of Pediatric Neurology, Istanbul University-Cerrahpasa, Cerrahpasa Medical School, Istanbul, Turkey.

Objective: Neurologic complications of chronic infantile neurologic, cutaneous and articular syndrome (CINCA) are well-known, whereas there are scarce data regarding neurologic features of milder cryopyrin-associated periodic syndrome (CAPS) phenotypes. We aimed to review the neurologic features in detail and summarize the other CAPS-related manifestations in 12 children.

Methods: All children with CAPS that have been followed-up from pediatric rheumatology outpatient clinic, were enrolled to the study. Read More

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http://dx.doi.org/10.1016/j.ejpn.2019.03.006DOI Listing
March 2019
2 Reads

Quality of life of patients with spinal muscular atrophy: A systematic review.

Eur J Paediatr Neurol 2019 Mar 21. Epub 2019 Mar 21.

Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany.

Objectives: To systematically review the literature of quality of life (QoL) of patients with spinal muscular atrophy (SMA), a rare, autosomal-recessive neuromuscular disease associated with extensive morbidity and elevated mortality.

Methods: We searched Embase, Web of Science, and PubMed for full-text, English-language articles (published between January 1, 2000 and July 31, 2018) reporting results from studies of QoL of patients with SMA. We excluded review and editorial articles, studies reporting results for samples comprising <5 patients (to allow for meaningful inference), and case reports/qualitative assessments. Read More

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http://dx.doi.org/10.1016/j.ejpn.2019.03.004DOI Listing
March 2019
1 Read

Language development in children with congenital heart disease aged 12-24 months.

Eur J Paediatr Neurol 2019 Mar 15. Epub 2019 Mar 15.

École d'orthophonie et d'audiologie, University of Montreal, 7077, avenue du Parc, local 3001-1, Montréal, QC, H3N 1X7, Canada; Clinique d'Investigation Neuro-Cardiaque (CINC), Sainte-Justine University Hospital Centre, 3175, chemin de la Côte-Sainte-Catherine, Montréal, QC, H3T 1C5, Canada. Electronic address:

This longitudinal study aims to describe the trajectory of language development in children with CHD aged 12-24 months assessed through an early monitoring and individualized intervention program. We also sought to determine whether early language performances, at 12 months of age, predict 24-month language abilities. We conducted developmental assessments of 49 children with CHD using the Bayley Scales of Infant and Toddler Developmental, third edition (Bayley-III) at 12 and 24 months, and the MacArthur-Bates Communicative Development Inventories (MBCDI) at 12, 18 and 24 months. Read More

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http://dx.doi.org/10.1016/j.ejpn.2019.03.002DOI Listing

Gait deviations in patients with dravet syndrome: A systematic review.

Eur J Paediatr Neurol 2019 Mar 22. Epub 2019 Mar 22.

Department of Rehabilitation Sciences and Physiotherapy - Movant, University of Antwerp, Universiteitsplein 1, 2610, Wilrijk, Belgium. Electronic address:

Background: Dravet Syndrome is a rare developmental and epileptic encephalopathy characterised by epileptic seizures, cognitive impairment and motor disorders. Gait is markedly impaired and could benefit from targeted intervention to improve quality of life for patient and caregivers.

Objective: To establish the state of the art regarding gait deviations in patients with Dravet Syndrome. Read More

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http://dx.doi.org/10.1016/j.ejpn.2019.03.003DOI Listing
March 2019
6 Reads

Clinical and genetic spectrum of SCN2A-associated episodic ataxia.

Eur J Paediatr Neurol 2019 Mar 7. Epub 2019 Mar 7.

Pediatric Neurology, Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany; Institute for Molecular and Behavioral Neuroscience, Faculty of Medicine, University of Cologne, Cologne, Germany. Electronic address:

Background: Pathogenic variants in SCN2A are associated with various neurological disorders including epilepsy, autism spectrum disorder and intellectual disability. Few reports have recently described SCN2A-associated episodic ataxia (EA). Our study identifies its broader clinical and genetic spectrum, and describes pharmacological approaches. Read More

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http://dx.doi.org/10.1016/j.ejpn.2019.03.001DOI Listing
March 2019
4 Reads

Failure of ketogenic diet therapy in GLUT1 deficiency syndrome.

Eur J Paediatr Neurol 2019 Feb 27. Epub 2019 Feb 27.

Department of Neurology, Academic Center for Epileptology, Kempenhaeghe and Maastricht University Medical Centre, Heeze, the Netherlands. Electronic address:

Purpose: Epilepsy in GLUT1 deficiency syndrome is generally drug-resistant; ketogenic diet (KD) therapy is the mainstay of therapy, as production of ketones provides the brain with an alternative energy source, bypassing the defect in GLUT1. Failure of KD therapy and risk factors for failure have been sparsely published.

Methods: We performed a retrospective study of GLUT1DS patients with refractory epilepsy failing on KD therapy, to identify their clinical characteristics. Read More

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http://dx.doi.org/10.1016/j.ejpn.2019.02.012DOI Listing
February 2019

Incidence and mortality of moderate and severe traumatic brain injury in children: A ten year population-based cohort study in Norway.

Eur J Paediatr Neurol 2019 Mar 4. Epub 2019 Mar 4.

Clinic of Physical Medicine and Rehabilitation, St. Olavs Hospital, Trondheim University Hospital, Trondheim, Norway; Department of Neuromedicine and Movement Science, Norwegian University of Science and Technology, NTNU, Trondheim, Norway. Electronic address:

Objective: In this study we wanted to estimate population-based rates of incidence and mortality of moderate and severe traumatic brain injury (TBI) in children in one specific region in Norway.

Methods: In the region there are seven acute care hospitals (ACHs) in addition to a Level 1 trauma centre. Of 702 869 inhabitants (2014), 145 395 were children aged 0-16 years. Read More

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Perinatal stroke syndromes: Similarities and diversities in aetiology, outcome and management.

Eur J Paediatr Neurol 2019 Feb 27. Epub 2019 Feb 27.

CHU Saint-Étienne, French Centre for Paediatric Stroke, Paediatric Physical and Rehabilitation Medicine Department, INSERM, CIC 1408, F-42055, Saint-Étienne, France; INSERM, U1059 Sainbiose, Univ Saint-Étienne, Univ Lyon, F-42023, Saint-Étienne, France. Electronic address:

With a birth-prevalence of 37-67/100,000 (mostly term-born), perinatal stroke encompasses distinct disease-states with diverse causality, mechanism, time of onset, mode of presentation and outcome. Neonatal primary haemorrhagic stroke and ischemic events (also divided into neonatal arterial ischemic stroke and neonatal cerebral sinus venous thrombosis) that manifest soon after birth are distinguished from presumed perinatal - ischemic or haemorrhagic - stroke. Signs of the latter become apparent only beyond the neonatal period, most often with motor asymmetry or milestones delay, and occasionally with seizures. Read More

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http://dx.doi.org/10.1016/j.ejpn.2019.02.013DOI Listing
February 2019
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GLUT1 deficiency and pediatric-onset hereditary spastic paraplegia: A new association.

Eur J Paediatr Neurol 2019 03;23(2):233-234

Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, 'G. Gaslini' Institute, University of Genoa, Genova, Italy. Electronic address:

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March 2019
6 Reads

Attention measures of patients with Rett Syndrome need to overcome the challenges in evaluating the oculomotor function using electronystagmography.

Eur J Paediatr Neurol 2019 03;23(2):232

Department of Clinical and Experimental Medicine, University of Messina, Via Bivona, Messina, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2019.02.008DOI Listing

Nesprinopathy: A multi-faceted genetic disorder.

Eur J Paediatr Neurol 2019 03;23(2):231

Department of Paediatric Neurology, Hacettepe Children's Hospital, Ankara, 06100, Turkey. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2019.02.011DOI Listing

Functional outcome after traumatic cervical spinal cord injury: Can adolescents be truly compared to adults?

Eur J Paediatr Neurol 2019 03;23(2):229-230

Department of Neurosurgery, Geisinger, Danville, PA, USA; Research Institute of Neurointervention, Paracelsus Medical University, Salzburg, Austria. Electronic address:

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Burden-of-illness and cost-driving factors in Dravet syndrome patients and carers: A prospective, multicenter study from Germany.

Eur J Paediatr Neurol 2019 Feb 28. Epub 2019 Feb 28.

Epilepsy Center Frankfurt Rhine-Main and Department of Neurology, Goethe-University, Frankfurt am Main, Germany; LOEWE Center for Personalized Translational Epilepsy Research (CePTER), Goethe-University, Frankfurt am Main, Germany; Department of Neuropediatrics, Goethe-University Frankfurt, Frankfurt am Main, Germany.

Introduction: Dravet syndrome (DS) is a rare developmental and epileptic encephalopathy. This study estimated cost, cost-driving factors and quality of life (QoL) in patients with Dravet syndrome and their caregivers in a prospective, multicenter study in Germany.

Methods: A validated 3-12-month retrospective questionnaire and a prospective 3-month diary assessing clinical characteristics, QoL, and direct, indirect and out-of-pocket (OOP) costs were administered to caregivers of patients with DS throughout Germany. Read More

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http://dx.doi.org/10.1016/j.ejpn.2019.02.014DOI Listing
February 2019

Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3.

Eur J Paediatr Neurol 2019 Feb 22. Epub 2019 Feb 22.

Department of Pediatrics, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. Electronic address:

Mutations in ATP1A3 lead to different phenotypes having in common acute neurological decompensation episodes triggered by a specific circumstance and followed by sequelae. Alongside Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, Sensorineural hearing loss syndrome (CAPOS), a new Relapsing Encephalopathy with Cerebellar Ataxia (RECA) phenotype was published in 2015. We describe herein eight new pediatric cases. Read More

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http://dx.doi.org/10.1016/j.ejpn.2019.02.004DOI Listing
February 2019
4 Reads

Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews.

Eur J Paediatr Neurol 2019 Feb 19. Epub 2019 Feb 19.

Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Pediatric Neurology Unit, Safra Children Hospital, Sheba Medical Center, Tel Hashomer, Israel; The Pinchas Borenstein Talpiot Medical Leadership Program, The Chaim Sheba Medical Center, 52621, Ramat Gan, Israel.

The human WW Domain Containing Oxidoreductase (WWOX) gene was originally described as a tumor suppressor gene. However, recent reports have demonstrated its cardinal role in the pathogenesis of central nervous systems disorders such as epileptic encephalopathy, intellectual disability, and spinocerebellar ataxia. We report on six patients from three unrelated families of full or partial Yemenite Jewish ancestry exhibiting early infantile epileptic encephalopathy and profound developmental delay. Read More

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http://dx.doi.org/10.1016/j.ejpn.2019.02.003DOI Listing
February 2019
2 Reads

Gross motor function outcomes following deep brain stimulation for childhood-onset dystonia: A descriptive report.

Eur J Paediatr Neurol 2019 Feb 21. Epub 2019 Feb 21.

Complex Motor Disorder Service, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, Floor 2 Beckett House, Lambeth Palace Road, London, SE1 7EU, United Kingdom.

Aim: To examine the impact of deep brain stimulation (DBS) on gross motor function in children with dystonic movement disorders.

Method: Prospective audit involving children implanted 2007-2015, followed for up to two years. Outcomes were evaluated across aetiological sub-groups (inherited, acquired, idiopathic) using the GMFM-88 and BFMDRS movement scale (BFM-M). Read More

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http://dx.doi.org/10.1016/j.ejpn.2019.02.005DOI Listing
February 2019
1 Read
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Cortical malformations and COL4A1 mutation: Three new cases.

Eur J Paediatr Neurol 2019 Feb 22. Epub 2019 Feb 22.

Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy; Child and Adolescence Neurology Unit, IRCCS Mondino Foundation, Pavia, Italy.

Aim: The COL4A1 gene (13q34) encodes the α1 chain of type IV collagen, a crucial component of the basal membrane. COL4A1 mutations have been identified as a cause of a multisystem disease. Brain MRI in COL4A1-mutated patients typically shows vascular abnormalities and white matter lesions. Read More

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http://dx.doi.org/10.1016/j.ejpn.2019.02.006DOI Listing
February 2019
6 Reads

Neurological complications in childhood nephrotic syndrome: A systematic review.

Eur J Paediatr Neurol 2019 Feb 22. Epub 2019 Feb 22.

1st Department of Paediatrics, Aristotle University of Thessaloniki, "Hippokratio" General Hospital, Thessaloniki, Greece.

Background And Objective: Nephrotic syndrome (NS) in childhood can be accompanied by serious neurological complications increasing the morbidity of disease. The study aimed to assess the spectrum of neurological complications in children with in terms of clinical presentation, contributory risk factors, and outcome.

Methods: In this systematic review, we searched for articles in PubMed, providing individual patient-level data for any neurological complication in children and adolescents with primary NS, between January 1, 1990 and April 30, 2018. Read More

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http://dx.doi.org/10.1016/j.ejpn.2019.02.007DOI Listing
February 2019
4 Reads

Expanding phenotype of mitochondrial depletion syndrome in association with TWNK mutations.

Eur J Paediatr Neurol 2019 Feb 14. Epub 2019 Feb 14.

Department of Pediatric Neurology, University Children's Hospital, 75, Steinwiesstrasse, 8032 Zurich, Switzerland. Electronic address:

Mitochondrial DNA depletion syndromes (MDS) are a group of clinically and genetically heterogeneous autosomal recessive disorders characterized by a reduction of mtDNA. We report two siblings of Armenian origin with early onset neurodegenerative disease characterized by encephalopathy, severe hypotonia, facial dyskinetic movements, abnormal eye movements, severe failure to thrive, and abnormal renal and hepatic function. Sanger sequencing confirmed two variants in the C10orf2 gene (TWNK) and indicated a diagnosis of MDS. Read More

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http://dx.doi.org/10.1016/j.ejpn.2019.02.002DOI Listing
February 2019
4 Reads

The genetic etiology in cerebral palsy mimics: The results from a Greek tertiary care center.

Eur J Paediatr Neurol 2019 Feb 14. Epub 2019 Feb 14.

First Department of Pediatrics, Agia Sofia Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece. Electronic address:

Objective: Non-progressive genetic disorders may present with motor dysfunction resembling cerebral palsy (CP). Such patients are often characterized as CP mimics. The purpose of this work was to delineate the clinical manifestations and molecular findings of CP mimic patients, with the ultimate goal to offer specific disease-modifying therapy and genetic counseling. Read More

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http://dx.doi.org/10.1016/j.ejpn.2019.02.001DOI Listing
February 2019
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Modalities of reading acquisition in three siblings with infantile-onset saccade initiation delay (Cogan congenital ocular motor apraxia): A longitudinal study.

Eur J Paediatr Neurol 2019 Feb 8. Epub 2019 Feb 8.

Pediatric Neurology Unit, Pediatric Subspecialties Service, Children's Hospital of Geneva, Switzerland.

This study aims to ascertain the impact of congenital ocular motor apraxia (COMA), alternatively called infantile-onset saccade initiation delay (ISID), on reading acquisition. More specifically, the consequence of defective initiation of horizontal saccades during reading acquisition was investigated. Three siblings (A: male, 11y3m at the first time-point of testing (i. Read More

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http://dx.doi.org/10.1016/j.ejpn.2019.01.008DOI Listing
February 2019

Cerebral palsy among children of immigrants in Denmark and the role of socioeconomic status.

Eur J Paediatr Neurol 2019 Feb 4. Epub 2019 Feb 4.

Department of Public Health at University of Copenhagen, Oesterfarimagsgade 5, Postboks 2099, 1014 Copenhagen, Denmark.

Background: Children of immigrants in Denmark have excess risk for some of the most well-established risk factors for cerebral palsy (CP).

Objectives: To study differences in risk of CP between children of immigrants and children of Danish-born mothers, and explore whether socioeconomic status drives any potential association.

Methods: A register-based cohort study including 1,274,616 children born in Denmark between 1981 and 2007. Read More

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http://dx.doi.org/10.1016/j.ejpn.2019.01.007DOI Listing
February 2019
1 Read

Punctate white-matter lesions in the full-term newborn: Underlying aetiology and outcome.

Eur J Paediatr Neurol 2019 Mar 26;23(2):280-287. Epub 2019 Jan 26.

Department of Neonatology, Wilhelmina Children's Hospital, Utrecht, University Medical Center Utrecht, Utrecht University, the Netherlands.

Background: Punctate white matter lesions (PWMLs) are small focal patches of increased signal intensity (SI) on T1- and decreased SI on T2-weighted magnetic resonance imaging (MRI). To date, there have been few reports of PWMLs in term born infants.

Objective: To identify associated diagnoses and factors predictive of clinical outcome in (near) term infants with PWMLs. Read More

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http://dx.doi.org/10.1016/j.ejpn.2019.01.005DOI Listing
March 2019
2 Reads

Predictive factors and prognostic value for status epilepticus in newborns.

Eur J Paediatr Neurol 2019 Mar 29;23(2):270-279. Epub 2019 Jan 29.

Epileptology, Sleep Disorders and Functional Pediatric Neurology, Member of ERN-EpiCARE; HFME, Hospices Civils de Lyon, 59 Boulevard Pinel, Bron, France.

Objectives: To evaluate the predictive factors for status epilepticus (SE) in neonates and prognostic factors for patient outcomes in newborns suffering either isolated seizures or SE.

Methods: A retrospective single-center study from January 2010 to December 2014, included 91 newborns who had neonatal seizures. Among them, 50 newborns experienced SE and 41 newborns presented isolated seizures only. Read More

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http://dx.doi.org/10.1016/j.ejpn.2019.01.006DOI Listing
March 2019
3 Reads

Risk of Developmental Coordination Disorder in Italian very preterm children at school age compared to general population controls.

Eur J Paediatr Neurol 2019 Mar 11;23(2):296-303. Epub 2019 Jan 11.

Clinical Care and Management Innovation Research Area, Bambino Gesù Children's Hospital, IRCCS, Viale Ferdinando Baldelli 41, 00146, Rome, Italy. Electronic address:

Background: Developmental Coordination Disorder (DCD) is a neurodevelopmental disorder that involves difficulties in goal-directed motor coordination, with ineffective control of fine and gross motor movements in the absence of sensory impairment or neurological condition. DCD is frequently reported in children born very preterm (VP) who survive without CP.

Aims: To measure the risk of DCD at school age in a large area-based cohort of VP children and general population controls, adjusting for gender, birth weight by gestational age and age at assessment. Read More

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http://dx.doi.org/10.1016/j.ejpn.2019.01.002DOI Listing
March 2019
2 Reads

A population-based and case-controlled study of children and adolescents with narcolepsy: Health-related quality of life, adaptive behavior and parental stress.

Eur J Paediatr Neurol 2019 Mar 19;23(2):288-295. Epub 2019 Jan 19.

Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden.

Objective: To investigate health-related quality of life (HrQoL) and adaptive behavior in young people with narcolepsy and stress among their parents.

Methods: In a cross-sectional exploratory quantitative study design, 37 young people with narcolepsy (8-20 years of age) and their parents were recruited. Thirty-one had post-H1N1 vaccination-related narcolepsy (PHV) and six had narcolepsy not related to PHV (nPHV). Read More

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http://dx.doi.org/10.1016/j.ejpn.2019.01.004DOI Listing
March 2019
3 Reads

Clinical deterioration despite syringomyelia resolution after successful foramen magnum decompression for Chiari malformation - Case series.

Eur J Paediatr Neurol 2019 Mar 14;23(2):333-337. Epub 2019 Jan 14.

Department of Paediatric Neurosciences, Royal Hospital for Sick Children, Edinburgh, UK.

Introduction: Neurosurgical treatment is recommended for symptomatic syringomyelia and the post-operative radiological resolution of the syringomyelia is associated with an improvement or at least stability of the patient's pre-operative symptoms.

Methods: We reviewed syringomyelia treatment in our centre over the last five years for clinical outcome, surgical complications, post operative MRI and long term symptom resolution.

Results: 50 cases of symptomatic syringomyelia underwent foramen magnum decompression and expansile watertight duroplasty. Read More

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Acute flaccid myelitis caused by enterovirus D68: Case definitions for use in clinical practice.

Eur J Paediatr Neurol 2019 Mar 11;23(2):235-239. Epub 2019 Jan 11.

Paediatric Neurosciences, Royal Hospital for Sick Children, Edinburgh, UK; Child Life and Health, University of Edinburgh, Edinburgh, UK.

Acute flaccid myelitis (AFM) was increasingly detected in recent years, coinciding with upsurges of enterovirus D68 (EV-D68) infections. We reviewed the evidence for a causal relationship between both. Based on reported cases, we provide case definitions for AFM caused by EV-D68 infections to enable a standard procedure for affected patients. Read More

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http://dx.doi.org/10.1016/j.ejpn.2019.01.001DOI Listing
March 2019
16 Reads

Editorial relating to paper by Schoonjans et al. EJPN 2019; A good night's sleep in Dravet syndrome - an unmet need.

Eur J Paediatr Neurol 2019 01;23(1)

Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, G51 4TF, UK; College of Medical, Veterinary & Life Sciences, University of Glasgow, G12 8QQ, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2018.12.009DOI Listing
January 2019
1 Read

Physical activity after mild traumatic brain injury: What are the relationships with fatigue and sleep quality? Is physical activity a key to prevention of post-concussive symptoms?

Eur J Paediatr Neurol 2019 01;23(1):4-5

Dept of Paediatric Neurology, Erasmus University, Sophia Children's Hospital, Rotterdam, the Netherlands. Electronic address:

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January 2019
3 Reads

Editorial note.

Authors:
Sameer M Zuberi

Eur J Paediatr Neurol 2019 01;23(1)

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http://dx.doi.org/10.1016/j.ejpn.2018.12.007DOI Listing
January 2019
1 Read

Challenges in evaluating the oculomotor function in individuals with Rett syndrome using electronystagmography.

Eur J Paediatr Neurol 2019 Mar 18;23(2):262-269. Epub 2018 Dec 18.

Rett Expertise Center - Governor Kremers Center, Maastricht University Medical Center, Maastricht, the Netherlands; Division of Balance Disorders, Department of Otorhinolaryngology and Head and Neck Surgery, Maastricht University Medical Center, Maastricht, Netherlands; Faculty of Physics, Tomsk State University, Tomsk, Russia. Electronic address:

Background: Rett syndrome (RTT) is a neurological disorder characterized by a broad spectrum of symptoms. Communication is a major area of difficulty. Use of eye tracking technology offers a potentially effective method of communication when underpinned by intact oculomotor function. Read More

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March 2019
15 Reads

Characteristic clinical and ultrastructural findings in nesprinopathies.

Eur J Paediatr Neurol 2019 Mar 29;23(2):254-261. Epub 2018 Dec 29.

Department of Pediatric Neurology, Developmental Neurology and Social Pediatrics, University of Essen, Germany.

Aims: To define the neurological and neuropathological alterations caused by SYNE1 mutations.

Methods: We describe 5 patients (3 males, 2 females; age 3-24 years) from 3 families. The diagnostic work-up included three muscle biopsies and two nerve biopsies in three of the cases. Read More

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http://dx.doi.org/10.1016/j.ejpn.2018.12.011DOI Listing
March 2019
4 Reads

Re-emergence of SSPE: Consequence of the decline of adherence to vaccination programmes?

Eur J Paediatr Neurol 2019 03 30;23(2):338-340. Epub 2018 Dec 30.

Department of Biomedical and Clinical Sciences, L. Sacco, University of Milan, Italy; Department of Child Neurology, V. Buzzi Children's Hospital, University of Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2018.12.010DOI Listing
March 2019
3 Reads

SLC2A1 mutations are a rare cause of pediatric-onset hereditary spastic paraplegia.

Eur J Paediatr Neurol 2019 Mar 18;23(2):329-332. Epub 2018 Dec 18.

Unit of Neuromuscolar and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Research Hospital, Rome, Italy.

SLC2A1 mutations cause glucose transporter type 1 deficiency syndrome, whose phenotypic spectrum is a continuum, ranging from classic to variant phenotypes, the latter accounting for about 10% of cases. Very few SLC2A1-mutated patients with a spastic paraplegia phenotype have been reported so far, and they are associated with paroxysmal choreo-athetosis (i.e. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10903798183042
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http://dx.doi.org/10.1016/j.ejpn.2018.12.004DOI Listing
March 2019
10 Reads

Motor function in survivors of pediatric acute lymphoblastic leukemia treated with chemotherapy-only.

Eur J Paediatr Neurol 2019 Mar 17;23(2):304-316. Epub 2018 Dec 17.

Department of Pediatric Oncology/Hematology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Germany. Electronic address:

Background: Up to 43% of survivors of pediatric acute lymphoblastic leukemia (ALL) may exhibit fine-motor problems. Information on manual dexterity in this cohort is still limited.

Objectives: We tested survivors of childhood ALL treated with chemotherapy-only for fine-motor function in terms of drawing and handwriting abilities using a Digitizing Tablet (DT) with three tasks for drawing and handwriting of varying complexity, for ataxia using the International Cooperative Ataxia Rating Scale (ICARS), and for tremor and hand-eye coordination using the Nine Hole Steadiness Tester (NHST). Read More

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http://dx.doi.org/10.1016/j.ejpn.2018.12.005DOI Listing
March 2019
1 Read

Epilepsy in children with type 1 diabetes mellitus: Pathophysiological basis and clinical hallmarks.

Eur J Paediatr Neurol 2019 Mar 21;23(2):240-247. Epub 2018 Dec 21.

Pediatric Diabetology Unit, Department of Maternal and Infantile Health, Sapienza University of Rome, Italy.

We provide an overview on the current knowledge about the association between epilepsy and type 1 diabetes mellitus (T1DM). People with T1DM have a 2-6-fold higher risk of epilepsy than the general population. The onset of T1DM anticipates the onset of epilepsy by a mean period between 1,5 and 2,8 years. Read More

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http://dx.doi.org/10.1016/j.ejpn.2018.12.006DOI Listing
March 2019
3 Reads

Cognitive-behavioural treatment of functional neurological symptoms (conversion disorder) in children and adolescents: A case series.

Eur J Paediatr Neurol 2019 Mar 13;23(2):317-328. Epub 2018 Dec 13.

Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London, WC1N 3JH, UK; UCL Great Ormond Street Institute of Child Health (ICH), 30 Guilford Street, London, WC1N 1EH, UK. Electronic address:

Aim: To describe a cognitive-behavioural treatment and clinical outcomes in a series of children with functional neurological symptoms (FNS).

Method: Thirty-six children with FNS were assessed and of these twenty-two (13 male, 9 female) with a mean age 14.5 years (SD = 2. Read More

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http://dx.doi.org/10.1016/j.ejpn.2018.12.002DOI Listing
March 2019
4 Reads

Functional outcome after traumatic cervical spinal cord injury is superior in adolescents compared to adults.

Eur J Paediatr Neurol 2019 Mar 11;23(2):248-253. Epub 2018 Dec 11.

Department of Pediatric Traumatology, Trauma Center, Prof.-Küntscher-Str. 8, 82418, Murnau, Germany.

Objective: Determining differences in neurological and functional outcome between adolescents and adults after acute traumatic spinal cord injury (SCI).

Design: Retrospective, multi-center case-control study.

Methods: 100 cases of patients under 18 years at accident with acute traumatic cervical SCI admitted to SCI centers participating in the European Multi-center study about SCI (EMSCI) between January 2005 and April 2016 were reviewed. Read More

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http://dx.doi.org/10.1016/j.ejpn.2018.12.001DOI Listing
March 2019
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Fetal ventriculomegaly: What we have and what is still missing.

Eur J Paediatr Neurol 2018 11;22(6):898-899

1st Department of Pediatrics, "Hippokratio" General Hospital, Aristotle University, Thessaloniki, Greece.

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http://dx.doi.org/10.1016/j.ejpn.2018.11.005DOI Listing
November 2018
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Fetal Neurology.

Eur J Paediatr Neurol 2018 11;22(6):895-897

Fetal Neurology Clinic, Obstetrics-Gynecology Ultrasound Unit, and Pediatric Neurology Unit, Wolfson Medical Center, Holon, Tel-Aviv, Israel; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

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https://linkinghub.elsevier.com/retrieve/pii/S10903798183050
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http://dx.doi.org/10.1016/j.ejpn.2018.11.004DOI Listing
November 2018
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Physical activity after mild traumatic brain injury: What are the relationships with fatigue and sleep quality?

Eur J Paediatr Neurol 2019 Jan 14;23(1):53-60. Epub 2018 Nov 14.

Sophia Rehabilitation, The Hague, The Netherlands; Leiden University Medical Centre, Department of Orthopaedics, Rehabilitation and Physical Therapy, Leiden, The Netherlands.

Objectives: To determine self-reported physical activity (PA) levels and relationships with fatigue and sleep quality in adolescents and young adults after mild traumatic brain injury (mTBI).

Setting: Follow-up 6-18 months after visiting the emergency department of one of 2 general hospitals.

Participants: Forty-nine adolescents and young adults aged 12-25 years (mean 18. Read More

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http://dx.doi.org/10.1016/j.ejpn.2018.11.002DOI Listing
January 2019
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Recurrent arterial ischemic stroke with good response to mycophenolate mofetil.

Eur J Paediatr Neurol 2019 Jan 14;23(1):222-227. Epub 2018 Nov 14.

Department of Paediatrics, Division of Paediatric Neurology, Ghent University Hospital, C. Heymanslaan 10, B-9000, Gent, Belgium. Electronic address:

Background: Arterial ischemic stroke is rare in childhood. Often, the diagnosis is made after considerable delay. A thorough workup to pinpoint the underlying etiology is necessary, as a correct diagnosis is the determining factor in treatment decision. Read More

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http://dx.doi.org/10.1016/j.ejpn.2018.11.003DOI Listing
January 2019
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The neuroimaging mimics of abusive head trauma.

Eur J Paediatr Neurol 2019 Jan 22;23(1):19-30. Epub 2018 Nov 22.

Department of Neuroradiology, SickKids, 555 University Avenue, Toronto, Ontario, M5G 1X8, Canada.

Abusive head trauma (AHT) is a significant cause of morbidity and mortality in the paediatric population, typically in children under the age of two years. Neuroimaging plays a key role in the diagnostic work up of these patients as information regarding the mechanism of injury is often lacking and the findings on examination can be nonspecific. A number of conditions, both traumatic and atraumatic can mimic AHT based on neuroimaging features alone. Read More

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http://dx.doi.org/10.1016/j.ejpn.2018.11.006DOI Listing
January 2019
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CSF nerve growth factor (β-NGF) is increased but CSF insulin-like growth factor-(IGF-1) is normal in children with tuberous sclerosis and infantile spasms.

Eur J Paediatr Neurol 2019 Jan 14;23(1):191-196. Epub 2018 Nov 14.

School of Medicine, University of Eastern Finland, Kuopio, Finland. Electronic address:

Tuberous sclerosis is associated with epilepsy that is often refractory. We examined cerebrospinal fluid (CSF) concentrations for neurotrophins, nerve growth factor (β-NGF) and insulin-like growth factor (IGF-1) in children with infantile spasms between 1997 and 2010. We classified the patients as follows: tuberous sclerosis (n = 5), cryptogenic spasms (n = 6), postinfectious spasms (n = 5) and other symptomatic spasms (n = 22). Read More

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http://dx.doi.org/10.1016/j.ejpn.2018.11.001DOI Listing
January 2019
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Bickerstaff Brainstem Encephalitis and overlapping Guillain-Barré syndrome in children: Report of two cases and review of the literature.

Eur J Paediatr Neurol 2019 Jan 20;23(1):43-52. Epub 2018 Nov 20.

Pediatric Clinic, Foundation IRCCS Policlinico "San Matteo", University of Pavia, Pavia, Italy.

Bickerstaff Brainstem Encephalitis (BBE) is a rare autoimmune encephalitis, characterized by acute ophthalmoplegia, ataxia and altered state of consciousness. Together with Guillan-Barrè Syndrome (GBS) and Miller-Fisher Syndrome, it forms a spectrum of post-infectious demyelinating diseases. Overlapping forms between BBE and GBS (BBE/GBS) are described in patients with lower limbs weakness and typical signs of BBE, suggesting a combined involvement of Central and Peripheral Nervous System (PNS), but only few reported cases are focused on pediatric population. Read More

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http://dx.doi.org/10.1016/j.ejpn.2018.11.008DOI Listing
January 2019
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Efficacy and tolerability of olive oil-based ketogenic diet in children with drug-resistant epilepsy: A single center experience from Turkey.

Eur J Paediatr Neurol 2019 Jan 20;23(1):143-151. Epub 2018 Nov 20.

Dokuz Eylul University, Division of Pediatric Metabolism and Nutrition, Izmir, Turkey. Electronic address:

Purpose: Ketogenic diet (KD) is an effective non-pharmacological treatment for drug-resistant epilepsy. The aim of this study was to investigate the efficacy, tolerability and complications of olive oil-based KD in epileptic children.

Method: In this single-center, prospective study, patients were followed up at 1, 3, 6 and 12 months after KD initiation. Read More

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http://dx.doi.org/10.1016/j.ejpn.2018.11.007DOI Listing
January 2019
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Gait in children with infantile/atypical autism: Age-dependent decrease in gait variability and associations with motor skills.

Eur J Paediatr Neurol 2019 Jan 29;23(1):117-125. Epub 2018 Sep 29.

Division of Neuropediatrics and Developmental Medicine, University Children's Hospital Basel, Spitalstrasse 33, 4056 Basel, Switzerland.

Gait and its associations with prewalking motor milestones, motor skills, and age were investigated in 32 children with infantile/atypical autism and 36 typically developing controls. Gait was assessed using GAITRite recordings of spatiotemporal and variability gait parameters. Parents reported their child's prewalking motor milestones. Read More

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http://dx.doi.org/10.1016/j.ejpn.2018.09.011DOI Listing
January 2019
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Fetal midline anomalies: Diagnosis and counselling part 2: Septal anomalies.

Eur J Paediatr Neurol 2018 11 8;22(6):963-971. Epub 2018 Nov 8.

Womeńs Health and Perinatology Research Group, Department of Clinical Medicine, UiT-The Arctic University of Norway, Tromsø, Norway; Department of Obstetrics and Gynaecology, University Hospital of Northern Norway, Tromsø, Norway. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2018.10.003DOI Listing
November 2018
1 Read