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European Journal of Paediatric Neurology: EJPN

Darcy A Krueger, Jamie K Capal, Paolo Curatolo, Orrin Devinsky, Kevin Ess, Michal Tzadok, Mary K Koenig, Vinodh Narayanan, Federico Ramos, Sergiusz Jozwiak, Petrus de Vries, Anna C Jansen, Michael Wong, David Mowat, John Lawson, Stephanie Bruns, David Neal Franz
OBJECTIVE: To evaluate the safety of mTOR inhibitors (sirolimus or everolimus) in infants and very young children with tuberous sclerosis complex (TSC) under two years of age. METHODS: Study design was retrospective to capture medical record data from 52 international TSC Centres who initiated treatment with sirolimus or everolimus in TSC children before the age of two years. Data collection included demographic and clinical information including reason(s) for initiating treatment with mTOR inhibitors, treatment duration, dosing, and corresponding serum trough levels, response to treatment, and adverse events (AE)...
July 4, 2018: European Journal of Paediatric Neurology: EJPN
Irene Toldo, Claudia Maria Bonardi, Elisa Bettella, Roberta Polli, Giacomo Talenti, Alberto Burlina, Stefano Sartori, Alessandra Murgia
BACKGROUND: The ALDH7A1 gene is known to be responsible for autosomal recessive pyridoxine-dependent epilepsy (OMIM 266100). The phenotypic spectrum of ALDH7A1 mutations is very heterogeneous ranging from refractory epilepsy and neurodevelopmental delay, to multisystem neonatal disorder. AIM: The present study aims at describing the phenotype associated with a novel homozygous ALDH7A1 mutation and the spectrum of brain malformations associated with pyridoxine-dependent epilepsy...
July 3, 2018: European Journal of Paediatric Neurology: EJPN
Zvi Leibovitz, Tally Lerman-Sagie
Microcephaly in utero is conventionally defined as a fetal head circumference (HC) 3SD below the mean for gestational age according to Jeanty et al.'s reference range. Prediction of microcephaly at birth (micB) based on conventional prenatal biometry is associated with a high percentage of false positive diagnoses and as a result, in countries in which it is an option, termination of pregnancy may be offered in cases that would have culminated in birth of a normocephalic child. A false negative diagnosis is rarer, but may lead to the birth of a symptomatic microcephalic child...
June 30, 2018: European Journal of Paediatric Neurology: EJPN
Marjolein Hermens, Marjo S van der Knaap, Erik-Jan Kamsteeg, Michèl A Willemsen
Leukoencephalopathy with brain calcifications and cysts (LCC) is a genetic white matter disorder, which involves the brain small blood vessels. In the absence of extra-neurological symptoms, LCC has a pathognomonic radiological phenotype. Recently, biallelic mutations in the SNORD118 gene, which is a non-protein coding gene, were discovered to cause LCC. We present here two siblings with developmental delay and a typical MRI pattern, who were diagnosed with LCC. The mutations in the SNORD118 gene were initially missed with whole exome sequencing (WES), but recognition of the MRI patterns of both children raised the suspicion of LCC and led to a genetically proven diagnosis after re-evaluation of the WES data...
June 25, 2018: European Journal of Paediatric Neurology: EJPN
Anne L Gordon, Loan Nguyen, Anna Panton, Andrew A Mallick, Vijeya Ganesan, Elizabeth Wraige, Christopher McKevitt
BACKGROUND: Pediatric stroke has the potential for long term impact on the lives of children and their families. Child-centred intervention depends on understanding of needs from diagnosis onwards. However, little is known about the health and care support self-reported needs of this population. AIMS: This study aimed to describe the nature and extent of needs (met and unmet) of pediatric stroke patients and their families and compare these with previously reported adult stroke needs...
June 18, 2018: European Journal of Paediatric Neurology: EJPN
M A S Ahmed, Ella Ramseyer-Bache, Katherine Taylor
BACKGROUND: Headache on wakening (HoW) or sleep interruption secondary to headache (SIH) has been commonly regarded as a potential sign of raised intracranial pressure and therefore a sign of significant underlying pathology that necessitates further investigation. Current recommendations for neuroimaging in patients with HoW/SIH are neither consistent nor clear across headache guidelines published both nationally and internationally. AIM: The main aim of this study was to ascertain the relevance of HoW and/or SIH as an indication for routine neuroimaging...
June 18, 2018: European Journal of Paediatric Neurology: EJPN
René Kurz, Julia Huemer, Elvira Muchitsch, Martha Feucht
OBJECTIVE: To evaluate prospectively the effectiveness of cognitive behavioral therapy (CBT) in children with autism spectrum disorder (ASD). METHODS: Drug-naïve children who met the DSM-V criteria for a diagnosis of ASD were recruited from a day care center, specialized in long-term treatment of children and adolescents with ASD. Symptom assessment was performed using the Aberrant Behavior Checklist (ABC) before (base-line) and after 12 months (follow-up) of CBT...
May 30, 2018: European Journal of Paediatric Neurology: EJPN
Paolo Curatolo, Rima Nabbout, Lieven Lagae, Eleonora Aronica, Josè Carlos Ferreira, Martha Feucht, Christoph Hertzberg, Anna C Jansen, Floor Jansen, Katarzyna Kotulska, Romina Moavero, Finbar O'Callaghan, Antigone Papavasiliou, Michal Tzadok, Sergiusz Jóźwiak
Patients with tuberous sclerosis complex (TSC) are at very high risk for developing epilepsy, and the majority experience seizure onset during the first year of life. Early targeted interventions increase the probability of seizure-freedom and may protect neurodevelopment. In 2012, clinical recommendations for the management of epilepsy in patients with TSC were published by a panel of European experts. Since that time novel studies, reports, and expert opinions in preclinical and clinical TSC-related sciences prompted the need for updated recommendations, including epileptogenesis in TSC, the potential role of predictive biomarkers, the possible benefits of presymptomatic diagnosis and preventive treatment, and new treatment options including mTOR inhibitors...
May 24, 2018: European Journal of Paediatric Neurology: EJPN
Eva Skovslund Nielsen, Bianca Taaning Wichaidit, John Rosendahl Østergaard, Charlotte Ulrikka Rask
OBJECTIVE: To explore paediatricians' attitudes to and treatment practice for children with functional seizures (FS). METHODS: In a nationwide survey, all 64 Danish neuro-paediatricians and social paediatricians were invited to complete a structured questionnaire encompassing FS-related issues that included beliefs and attitudes about aetiology and diagnostic assessment, current strategies for management, experienced need for clinical guidelines and better treatment options...
May 24, 2018: European Journal of Paediatric Neurology: EJPN
Francesco Pisani, Elena Pavlidis
Nowadays, no general consensus was achieved regarding neonatal status epilepticus and its definition. Indeed, different criteria (mainly based on seizure duration) were used. Whereas a recent proposal has been developed to define status epilepticus in older ages, it seems that the peculiar characteristics of neonatal seizures and of the immature brain make difficult to find a tailored definition for this period of life. Achieving a consensus on this entity would mean to make the first step toward a targeted therapeutic strategy of intervention...
May 24, 2018: European Journal of Paediatric Neurology: EJPN
Paola R Silvestri, Valentina Baglioni, Francesco Cardona, Andrea E Cavanna
Chronic tic disorders are neurodevelopmental conditions characterized by the presence of motor and/or phonic tics and often accompanied by co-morbid behavioral problems. Chronic tic disorders can negatively affect the level of functioning of young patients across social and family domains, with possible repercussions on their self-perception. We conducted a systematic literature review to assess the clinical correlates of both components of self-perception (self-concept, i.e. what patients think about themselves, and self-esteem, i...
May 24, 2018: European Journal of Paediatric Neurology: EJPN
Cyril Gitiaux, Anna Kaminska, Nathalie Boddaert, Giulia Barcia, Sophie Guéden, Sylvie Nguyen The Tich, Pascale De Lonlay, Susana Quijano-Roy, Marie Hully, Yann Péréon, Isabelle Desguerre
BACKGROUND AND AIMS: Phospholipase A2 associated neurodegeneration (PLAN) is a heterogeneous autosomal recessive disorder caused by mutations in the ubiquitously expressed PLA2G6 gene. It is responsible for delayed brain iron accumulation and induces progressive psychomotor regression. We report the concomitant clinical, radiological and neurophysiological findings in PLAN patients in an attempt to determine the contribution of each test to guide diagnosis. METHODS: Concomitant clinical, radiological, electroencephalographic (EEG) and electrodiagnostic testing (EDX) findings in a series of 8 consecutive genetically confirmed PLAN patients were collected...
May 22, 2018: European Journal of Paediatric Neurology: EJPN
Sarah A Sparrow, Devasuda Anblagan, Amanda J Drake, Emma J Telford, Rozalia Pataky, Chinthika Piyasena, Scott I Semple, Mark E Bastin, James P Boardman
PURPOSE: Measures of white matter (WM) microstructure inferred from diffusion magnetic resonance imaging (dMRI) are useful for studying brain development. There is uncertainty about agreement between FA and MD values obtained from region-of-interest (ROI) versus whole tract approaches. We investigated agreement between dMRI measures using ROI and Probabilistic Neighbourhood Tractography (PNT) in genu of corpus callosum (gCC) and corticospinal tracts (CST). MATERIALS AND METHODS: 81 neonates underwent 64 direction DTI at term equivalent age...
May 16, 2018: European Journal of Paediatric Neurology: EJPN
Sandra Julsen Hollung, Torstein Vik, Stian Lydersen, Inger Johanne Bakken, Guro L Andersen
BACKGROUND: The aim of our study was to explore if the prevalence and clinical characteristics of cerebral palsy (CP), concomitant with perinatal health indicators in the general population, remained unchanged for children born in Norway between 1999 and 2010. METHODS: This national multi-register cohort study included 711 174 children recorded in the Medical Birth Registry of Norway. Among these, 707 916 were born alive, and 1664 had a validated diagnosis of CP recorded in the Cerebral Palsy Registry of Norway and/or the Norwegian Patient Registry...
May 8, 2018: European Journal of Paediatric Neurology: EJPN
Thomas Simon, Emmanuel Cheuret, Léa Fiedler, Catherine Mengelle, Eloïse Baudou, Kumaran Deiva
Opso-myoclonus syndrome (OMS) is a very rare and severe condition. Ataxia, opsoclonus, myoclonus and/or behavioral and sleeping disturbances define that autoimmune disorder syndrome which is paraneoplastic or triggered by an infection. Here, we report a 3 year-old immunocompetent boy who developed an atypical OMS which was later complicated by an acute transverse myelitis. Screening for neuroblastoma was negative and extensive infectious screening revealed an active HHV-6 infection confirmed by blood and cerebrospinal fluid PCR...
May 8, 2018: European Journal of Paediatric Neurology: EJPN
A Parmeggiani, F Boiani, S Capponi, M Duca, M Angotti, V Pignataro, L Sacrato, L Spinardi, G Vara, L Maltoni, I Cecconi, M Pastore Trossello, E Franzoni
BACKGROUND: Neurofibromatosis type 1 is a genetic disorder associated with cognitive deficits, learning disabilities and behavioral problems. These domains appear to have a still controversial debated association with local areas of T2-hyperintensities on MRI images, called unidentified bright objects (UBOs). METHODS: A cohort of 36 children (aged 7-11 years) included consecutively, underwent neuropsychological and behavioral assessment to determine their cognitive and neuropsychological profile, and the frequency of specific learning disabilities...
May 4, 2018: European Journal of Paediatric Neurology: EJPN
Domenico M Romeo, Alessandro Specchia, Francesca Sini, Sarah Bompard, Alessia Di Polito, Arianna Del Vecchio, Paola Ferrara, Roberto Bernabei, Eugenio Mercuri
Lycra garments have recently been used for children with cerebral palsy (CP), with favorable effects on alignment, biomechanics and neuromuscular activity. The aim of the present study is to determine the efficacy of a Lycra suit in improving motor function and static balance in children with CP. Five children with CP wore the Lycra suit for more than 4 h per day for 6 months. They were all assessed at baseline and 6 months after with an evaluation of static balance, using a "seated stabilometry exam", and a motor function assessment, using the Gross Motor Function Measure and Gross Motor function Classification System...
May 3, 2018: European Journal of Paediatric Neurology: EJPN
Kathleen M Gorman, Heather Cary, Laura Gaffney, Eva Forman, Dympna Waldron, Fowzy Al-Delami, Bryan J Lynch, Mary D King, Nicholas M Allen
Movement disorders are increasingly identified in infantile encephalopathies due to single gene disorders (e.g. SCN2A, CDKL5, ARX). The associated movement disorder can be challenging to recognise and treat. We report a 2 year-old boy with a background history of Ohtahara syndrome due to a missense variant in ARX (the aristaless-related homeobox gene) who subsequently developed status dystonicus. ARX is a transcription factor that plays a critical role in cortical neuronal development and is associated with a range of important neurodevelopmental disorders depending on the site of the pathogenic variant...
May 3, 2018: European Journal of Paediatric Neurology: EJPN
Rianne J M Goselink, Caroline R van Kernebeek, Karlien Mul, Richard J L F Lemmers, Silvère M van der Maarel, Oebele F Brouwer, Nicol Voermans, George W Padberg, Corrie E Erasmus, Baziel G M van Engelen
AIM: To assess the long-term natural course of early-onset facioscapulohumeral dystrophy (FSHD), which is important for patient management and trial-readiness, and is currently lacking. METHODS: We had the unique opportunity to evaluate 10 patients with early-onset FSHD after 22 years follow-up. Patients underwent a semi-structured interview, physical examination and additional genotyping. RESULTS: Nine initial study participants (median age 37 years) were included, one patient died shortly after first publication...
May 3, 2018: European Journal of Paediatric Neurology: EJPN
Josef Finsterer, Ana C Fiorini, Carla A Scorza, Fulvio A Scorza
No abstract text is available yet for this article.
April 30, 2018: European Journal of Paediatric Neurology: EJPN
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