Benefits of hippotherapy in children with cerebral palsy: A narrative review.
CONCLUSIONS: Gains were also observed in postural alignment and the balance of head and trunk. Moreover, there were improvements in quality of life and the activities of daily life, such as jumping, balance, strength and ascending and descending stairs. PMID: 30017618 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - July 10, 2018 Category: Neurology Authors: Martín-Valero R, Vega-Ballón J, Perez-Cabezas V Tags: Eur J Paediatr Neurol Source Type: research

Multifocal epilepsy in children is associated with increased long-distance functional connectivity: An explorative EEG-fMRI study.
CONCLUSION: This explorative study shows that multifocal activity is associated with generally increased long-distance functional connectivity in the brain. It can be suggested that this pronounced connectivity may represent either a risk to pathological over-synchronization or a consequence of the multifocal epileptic activity. PMID: 30017619 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - July 5, 2018 Category: Neurology Authors: Siniatchkin M, Moehring J, Kroeher B, Galka A, von Ondarza G, Moeller F, Wolff S, Tagliazucchi E, Steinmann E, Boor R, Stephani U Tags: Eur J Paediatr Neurol Source Type: research

Short-term safety of mTOR inhibitors in infants and very young children with tuberous sclerosis complex (TSC): Multicentre clinical experience.
CONCLUSIONS: Everolimus, and to a lesser extent sirolimus, are increasingly being used to treat TSC infants and very young children for multiple TSC-associated clinical indications. While AEs were common, most were not severe and did not prevent continued treatment in the majority of this younger population. PMID: 30005812 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - July 4, 2018 Category: Neurology Authors: Krueger DA, Capal JK, Curatolo P, Devinsky O, Ess K, Tzadok M, Koenig MK, Narayanan V, Ramos F, Jozwiak S, de Vries P, Jansen AC, Wong M, Mowat D, Lawson J, Bruns S, Franz DN, TSCure Research Group Tags: Eur J Paediatr Neurol Source Type: research

Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review.
CONCLUSIONS: ALDH7A1 mutations have been associated to different brain abnormalities, documented by MRI only in few cases. The study cases expand the clinical spectrum of ALDH7A1 associated conditions, suggesting to look for ALDH7A1 mutations not only in classical phenotypes but also in patients with brain malformations, mainly if there is a response to a pyridoxine trial. PMID: 30005813 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - July 3, 2018 Category: Neurology Authors: Toldo I, Bonardi CM, Bettella E, Polli R, Talenti G, Burlina A, Sartori S, Murgia A Tags: Eur J Paediatr Neurol Source Type: research

Developmental outcome in pyridoxine-dependent epilepsy: Better late (onset) than early.
PMID: 29887411 [PubMed - in process] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - June 13, 2018 Category: Neurology Authors: Gospe SM Tags: Eur J Paediatr Neurol Source Type: research

Next generation genetic considerations in paediatric stroke.
PMID: 29887412 [PubMed - in process] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - June 13, 2018 Category: Neurology Authors: Dlamini N Tags: Eur J Paediatr Neurol Source Type: research

Neurological assessment of late-preterm infants during the first year of age.
PMID: 29887413 [PubMed - in process] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - June 13, 2018 Category: Neurology Authors: Romeo DM, Brogna C, Mercuri E Tags: Eur J Paediatr Neurol Source Type: research

Function of the unaffected arms of children with neonatal brachial plexus injuries.
PMID: 29887414 [PubMed - in process] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - June 13, 2018 Category: Neurology Authors: Matthews DJ Tags: Eur J Paediatr Neurol Source Type: research

Trajectories of normal cerebral blood flow development in youth. Commentary on: Liu et  al. Resting state cerebral blood flow with arterial spin labeling MRI in developing human brains.
Trajectories of normal cerebral blood flow development in youth. Commentary on: Liu et al. Resting state cerebral blood flow with arterial spin labeling MRI in developing human brains. Eur J Paediatr Neurol. 2018 Jul;22(4):582-583 Authors: O'Neill J PMID: 29887415 [PubMed - in process] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - June 13, 2018 Category: Neurology Authors: O'Neill J Tags: Eur J Paediatr Neurol Source Type: research

Of pioneers and advancements related to general movement assessment.
PMID: 29887416 [PubMed - in process] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - June 13, 2018 Category: Neurology Authors: Marschik PB, Einspieler C Tags: Eur J Paediatr Neurol Source Type: research

Cognitive behavioral therapy for children with autism spectrum disorder: A prospective observational study.
CONCLUSION: Results indicate that CBT is an effective therapy for children with ASD. Larger studies are needed to give more details about which symptoms respond best in these patients. PMID: 29887491 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - May 30, 2018 Category: Neurology Authors: Kurz R, Huemer J, Muchitsch E, Feucht M Tags: Eur J Paediatr Neurol Source Type: research

Management of epilepsy associated with tuberous sclerosis complex: Updated clinical recommendations.
iak S Abstract 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 poten...
Source: European Journal of Paediatric Neurology - May 24, 2018 Category: Neurology Authors: Curatolo P, Nabbout R, Lagae L, Aronica E, Ferreira JC, Feucht M, Hertzberg C, Jansen AC, Jansen F, Kotulska K, Moavero R, O'Callaghan F, Papavasiliou A, Tzadok M, Jóźwiak S Tags: Eur J Paediatr Neurol Source Type: research

Paediatricians' attitudes to and management of functional seizures in children.
CONCLUSION: The findings suggest that introduction of clinical guidelines in this area is highly needed. Such guidelines could promote more formal training of paediatricians in understanding and assessing FS and increased collaboration between paediatrics and CAMHS regarding care for children with this challenging and potentially costly and disabling disorder. PMID: 29871800 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - May 24, 2018 Category: Neurology Authors: Nielsen ES, Wichaidit BT, Østergaard JR, Rask CU Tags: Eur J Paediatr Neurol Source Type: research

What is new: Talk about status epilepticus in the neonatal period.
Abstract 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. PMID: 29861333 [PubMed - as supplied by publisher] ...
Source: European Journal of Paediatric Neurology - May 24, 2018 Category: Neurology Authors: Pisani F, Pavlidis E Tags: Eur J Paediatr Neurol Source Type: research

Self-concept and self-esteem in patients with chronic tic disorders: A systematic literature review.
Abstract 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.e. how they feel about their self-concept) in patients with chronic tic di...
Source: European Journal of Paediatric Neurology - May 24, 2018 Category: Neurology Authors: Silvestri PR, Baglioni V, Cardona F, Cavanna AE Tags: Eur J Paediatr Neurol Source Type: research

PLA2G6-associated neurodegeneration: Lessons from neurophysiological findings.
CONCLUSIONS: Peripheral involvement is an early feature in PLAN recognizable by EDX at an earlier stage than typical iron accumulation in the brain. Furthermore, the association of West syndrome and axonal motor neuropathy may represent positive clues in favor of PLAN. This results emphasize the interest of early and repeated EDX. PMID: 29859652 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - May 22, 2018 Category: Neurology Authors: Gitiaux C, Kaminska A, Boddaert N, Barcia G, Guéden S, The Tich SN, De Lonlay P, Quijano-Roy S, Hully M, Péréon Y, Desguerre I Tags: Eur J Paediatr Neurol Source Type: research

Diffusion MRI parameters of corpus callosum and corticospinal tract in neonates: Comparison between region-of-interest and whole tract averaged measurements.
CONCLUSION: Agreement between dMRI measures of neonatal WM microstructure calculated from ROI and whole tract averaged methods is weak. ROI approaches may not provide sufficient representation of tract microstructure at the level of neural systems in newborns. PMID: 29804802 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - May 16, 2018 Category: Neurology Authors: Sparrow SA, Anblagan D, Drake AJ, Telford EJ, Pataky R, Piyasena C, Semple SI, Bastin ME, Boardman JP Tags: Eur J Paediatr Neurol Source Type: research

Decreasing prevalence and severity of cerebral palsy in Norway among children born 1999 to 2010 concomitant with improvements in perinatal health.
CONCLUSION: We observed a significant decrease in the prevalence and severity of CP subtypes and associated impairments among children with CP in Norway. This coincided with improvements in perinatal health indicators in the general population. These improvements are most likely explained by advancements in obstetric and neonatal care. PMID: 29779984 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - May 8, 2018 Category: Neurology Authors: Hollung SJ, Vik T, Lydersen S, Bakken IJ, Andersen GL Tags: Eur J Paediatr Neurol Source Type: research

Acute transverse myelitis following an opsoclonus-myoclonus syndrome: An unusual presentation.
Abstract 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. A parainfectious disease was suggested and immunosuppressive treatment was in...
Source: European Journal of Paediatric Neurology - May 8, 2018 Category: Neurology Authors: Simon T, Cheuret E, Fiedler L, Mengelle C, Baudou E, Deiva K Tags: Eur J Paediatr Neurol Source Type: research

A 22-year follow-up reveals a variable disease severity in early-onset facioscapulohumeral dystrophy.
DISCUSSION: Patients with early-onset FSHD generally had a severe phenotype compared to classical onset FSHD. However, after 22 years of follow up they showed a wide variation in severity and, despite these physical limitations, participated socially and economically. These observations are important for patient management and should be taken into account in clinical trials. PMID: 29753614 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - May 3, 2018 Category: Neurology Authors: Goselink RJM, van Kernebeek CR, Mul K, Lemmers RJLF, van der Maarel SM, Brouwer OF, Voermans N, Padberg GW, Erasmus CE, van Engelen BGM Tags: Eur J Paediatr Neurol Source Type: research

Further expansion of the genetic GABA-A-opathies.
PMID: 29653609 [PubMed - in process] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - April 15, 2018 Category: Neurology Authors: Symonds J Tags: Eur J Paediatr Neurol Source Type: research

Abnormal white matter: Expanding the GLUT1-D phenotype.
PMID: 29653610 [PubMed - in process] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - April 15, 2018 Category: Neurology Authors: Auvin S Tags: Eur J Paediatr Neurol Source Type: research

Letter to the editor: In reply to Sansone et  al.
Letter to the editor: In reply to Sansone et al. Eur J Paediatr Neurol. 2018 Mar 29;: Authors: Langer T, Pechmann A, Wider S, Kirschner J PMID: 29628153 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - March 29, 2018 Category: Neurology Authors: Langer T, Pechmann A, Wider S, Kirschner J Tags: Eur J Paediatr Neurol Source Type: research

Function in unaffected arms of children with obstetric brachial plexus palsy.
CONCLUSIONS: The fine and gross motor functions of the unaffected arms of children with OBPP are significantly worse in children between the ages of four and eight but this deficit improves with age, and possibly with ongoing therapy. PMID: 29627308 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - March 26, 2018 Category: Neurology Authors: Aktaş D, Eren B, Keniş-Coşkun Ö, Karadag-Saygi E Tags: Eur J Paediatr Neurol Source Type: research

Corrigendum to "Dissociative sensibility disorders  - A retrospective case series and systematic literature review" [Eur J Paediatr Neurol (2018) 27-38].
Corrigendum to "Dissociative sensibility disorders - A retrospective case series and systematic literature review" [Eur J Paediatr Neurol (2018) 27-38]. Eur J Paediatr Neurol. 2018 Mar 13;: Authors: Weber P, Erlacher R PMID: 29548596 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - March 13, 2018 Category: Neurology Authors: Weber P, Erlacher R Tags: Eur J Paediatr Neurol Source Type: research

Fetal alcohol spectrum disorders (FASD) - What we know and what we should know - The knowledge of German health professionals and parents.
The objective of our study was to evaluate the knowledge about fetal alcohol spectrum disorders (FASD) and the implementation of the German guideline for FASD among different professionals in the health and social system and among parents with children with FASD. METHODS: A questionnaire about FASD, containing 20 items, was sent by post to all children's hospitals (n = 287), all hospitals for child and adolescent psychiatry (n = 173), all social paediatric centres (n = 162), all neuropaediatricians (n = 129) and all youth welfare offices (n = 672) in Germany. Furthermo...
Source: European Journal of Paediatric Neurology - March 2, 2018 Category: Neurology Authors: Landgraf MN, Albers L, Rahmsdorf B, Vill K, Gerstl L, Lippert M, Heinen F Tags: Eur J Paediatr Neurol Source Type: research

Movement disorders in children: The need to observe, describe in detail and integrate your findings to the global clinical picture.
PMID: 29447765 [PubMed - in process] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - February 16, 2018 Category: Neurology Authors: Arzimanoglou A Tags: Eur J Paediatr Neurol Source Type: research

Dystonia in childhood: Rising networks.
PMID: 29447766 [PubMed - in process] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - February 16, 2018 Category: Neurology Authors: Willemsen MA Tags: Eur J Paediatr Neurol Source Type: research

Deep brain stimulation in cerebral palsy: Time for dynamism in a static encephalopathy.
PMID: 29447767 [PubMed - in process] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - February 16, 2018 Category: Neurology Authors: Merola A, Fasano A Tags: Eur J Paediatr Neurol Source Type: research

Childhood Acute Neuropsychiatric Syndromes …furthering the discussion PANS and PANDAS.
Childhood Acute Neuropsychiatric Syndromes…furthering the discussion PANS and PANDAS. Eur J Paediatr Neurol. 2018 Mar;22(2):223-224 Authors: Hedderly T, Malik O PMID: 29447768 [PubMed - in process] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - February 16, 2018 Category: Neurology Authors: Hedderly T, Malik O Tags: Eur J Paediatr Neurol Source Type: research

CANS: Childhood acute neuropsychiatric syndromes.
Abstract The terms Pediatric Autoimmune Neuropsychiatric disorders associated with streptococcal infections (PANDAS), Pediatric acute-onset neuropsychiatric Syndrome (PANS), and Childhood Acute Neuropsychiatric Symptoms (CANS) have been used to describe certain acute onset neuropsychiatric pediatric disorders. This clinical characteristic was unusually abrupt onset of obsessive compulsive symptoms and/or severe eating restrictions and concomitant cognitive, behavioral or neurological symptoms. Because the CANS/PANS criteria define a broad spectrum of neuropsychiatric conditions, the syndrome is presumed to result ...
Source: European Journal of Paediatric Neurology - February 1, 2018 Category: Neurology Authors: Zibordi F, Giovanna Z, Miryam C, Nardo N Tags: Eur J Paediatr Neurol Source Type: research

ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases.
Abstract Mutations in the ATP1A3 gene, which encodes the alpha3-subunit of sodium-potassium ATPase, are related to a spectrum of neurological diseases including Rapid onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC) and Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy and Sensorineural hearing loss (CAPOS) syndrome. Moreover, an increasing number of patients with intermediate and non classical phenotypes have been reported. Herein we describe 7 patients with 6 different de novo ATP1A3 mutations, and we focus on paroxysmal and chronic movement disorders with the help of video docum...
Source: European Journal of Paediatric Neurology - January 29, 2018 Category: Neurology Authors: Stagnaro M, Pisciotta L, Gherzi M, Di Rocco M, Gurrieri F, Parrini E, Prato G, Veneselli E, De Grandis E Tags: Eur J Paediatr Neurol Source Type: research

The relevance of gene panels in movement disorders diagnosis: A lab perspective.
Abstract Next-Generation Sequencing (NGS) is a group of new methods that allow sequencing a variable number of known genes (targeted resequencing) or even the whole human genome (whole genome sequencing-WGS) and have contributed to an exponential genetic knowledge growth, especially in rare diseases, in the past few years. Since 2015, in the Molecular Neurogenetics Unit of Neurological Institute "Carlo Besta", some gene panels have become available to screen all the known genes associated with Movement Disorders (MD) in children and adults as a diagnostic package. Over 221 patients analyzed (part of the ...
Source: European Journal of Paediatric Neurology - January 29, 2018 Category: Neurology Authors: Reale C, Panteghini C, Carecchio M, Garavaglia B Tags: Eur J Paediatr Neurol Source Type: research

Early-onset movement disorder as diagnostic marker in genetic syndromes: Three cases of FOXG1-related syndrome.
In conclusion, we stress the importance of considering genetic syndromes in the differential diagnosis of early-onset movement disorders. PMID: 29396177 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - January 29, 2018 Category: Neurology Authors: Caporali C, Signorini S, De Giorgis V, Pichiecchio A, Zuffardi O, Orcesi S Tags: Eur J Paediatr Neurol Source Type: research

Pediatric NMDAR encephalitis: A single center observation study with a closer look at movement disorders.
Abstract Anti-N-Methyl-d-aspartate-receptor (NMDAR) encephalitis is the most frequent autoimmune encephalitis in pediatric age. This retrospective observational study was aimed at describing the clinical characteristics of the disease in a cohort of children and teenagers. Eighteen patients (10 females and 8 males), with a median age of 12.4 years at symptom onset were enrolled. The clinical presentation of the disease was marked by neurological manifestations in 13 patients and by severe psychiatric and behavioral symptoms in 5. The symptoms at onset varied according to the age: all the children presented wi...
Source: European Journal of Paediatric Neurology - January 26, 2018 Category: Neurology Authors: Granata T, Matricardi S, Ragona F, Freri E, Zibordi F, Andreetta F, Binelli S, Nardocci N Tags: Eur J Paediatr Neurol Source Type: research

Diagnosis and treatment of pediatric onset isolated dystonia.
Abstract Isolated dystonia refers to a genetic heterogeneous group of progressive conditions with onset of symptoms during childhood or adolescence, progressive course with frequent generalization and marked functional impairment. There are well-known monogenic forms of isolated dystonia with pediatric onset such as DYT1 and DYT6 transmitted with autosomal dominant inheritance and low penetrance. Genetic findings of the past years have widened the etiological spectrum and the phenotype. The recently discovered genes (GNAL, ANO-3, KTM2B) or variant of already known diseases, such as Ataxia-Teleangectasia, are emerg...
Source: European Journal of Paediatric Neurology - January 17, 2018 Category: Neurology Authors: Zorzi G, Carecchio M, Zibordi F, Garavaglia B, Nardocci N Tags: Eur J Paediatr Neurol Source Type: research

Basal ganglia mechanisms in action selection, plasticity, and dystonia.
Abstract Basal ganglia circuits are organized to selected desired actions and to inhibit potentially competing unwanted actions. This is accomplished through a complex circuitry that is modified through development and learning. Mechanisms of neural plasticity underlying these modifications are increasingly understood, but new mechanisms continue to be discovered. Dystonia, a movement disorder characterized by involuntary muscle contractions that cause abnormal postures and movements. Emerging evidence points to important links between mechanisms of plasticity and the manifestations of dystonia. Investigation of t...
Source: European Journal of Paediatric Neurology - January 17, 2018 Category: Neurology Authors: Mink JW Tags: Eur J Paediatr Neurol Source Type: research

The neuropsychology of basal ganglia.
Abstract Basal ganglia are subcortical structures specialized at very early age, functionally different according to the right or left side. They are part of complex distributed network composed by parallel segregated loops where specific information are processed and open loops where different information are integrated. These loops are connected to specialized cortical areas thus entering into distributed processing of higher order cognitive functions and behaviours. Lesion or malfunction of basal ganglia nuclei cause deficits in different neuropsychological functions and neurobehavioural diseases, such Autism S...
Source: European Journal of Paediatric Neurology - January 12, 2018 Category: Neurology Authors: Riva D, Taddei M, Bulgheroni S Tags: Eur J Paediatr Neurol Source Type: research

Transient benign paroxysmal movement disorders in infancy.
rez E Abstract This review summarizes the current empirical and clinical literature on benign paroxysmal movement disorders in infancy most relevant to practitioners. Paroxysmal benign movement disorders are a heterogeneous group of movement disorders characterized by their favourable outcome. We pay special attention to the recognition and management of these abnormal motor conditions strongly suggestive of epileptic disorders. They include: neonatal jitteriness; benign neonatal sleep myoclonus; benign paroxysmal tonic upgaze; paroxysmal tonic downgaze, benign paroxysmal torticollis and benign polymorphous moveme...
Source: European Journal of Paediatric Neurology - January 12, 2018 Category: Neurology Authors: Fernández-Alvarez E Tags: Eur J Paediatr Neurol Source Type: research

Severe dysautonomia as a main feature of anti-GAD encephalitis: Report of a paediatric case and literature review.
CONCLUSION: Our report intends to raise awareness of autoimmune encephalitis with anti-GAD65 antibodies which may involve extralimbic brain regions and manifest with fatal dysautonomia. We highlight the need for prompt diagnosis and aggressive management for this underdiagnosed entity in children. PMID: 29370977 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - January 12, 2018 Category: Neurology Authors: Ben Achour N, Ben Younes T, Rebai I, Ben Ahmed M, Kraoua I, Ben Youssef-Turki I Tags: Eur J Paediatr Neurol Source Type: research

Risk factors in childhood arterial ischaemic stroke: Findings from a population-based study in Germany.
Abstract OBJECTIVE: Acute treatment of childhood arterial ischaemic stroke and prevention strategies for recurrent stroke episodes depend strongly on each child's individual risk profile. The aim of this study is to characterize risk factors for childhood stroke, their occurrence in isolation or combination, and to identify possible common risk factor patterns. METHODS: This population-based study was conducted via ESPED, a surveillance unit for rare paediatric diseases in Germany. Children aged>28days and
Source: European Journal of Paediatric Neurology - January 10, 2018 Category: Neurology Authors: Gerstl L, Weinberger R, von Kries R, Heinen F, Schroeder AS, Bonfert MV, Borggraefe I, Tacke M, Vill K, Landgraf MN, Kurnik K, Olivieri M Tags: Eur J Paediatr Neurol Source Type: research

A novel homozygous MFN2 mutation associated with severe and atypical CMT2 phenotype.
CONCLUSION: The case highlights a very rare mechanism of inheritance for MFN2 mutations and expands the clinical and allelic variance of severe CMT2A phenotype. Moreover, it proposes the involvement of cerebellar peduncles observed at neuroimaging as a novel clue to suspect the diagnosis and address genetic testing. PMID: 29361379 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - January 5, 2018 Category: Neurology Authors: Iapadre G, Morana G, Vari MS, Pinto F, Lanteri P, Tessa A, Santorelli FM, Striano P, Verrotti A Tags: Eur J Paediatr Neurol Source Type: research

Cognitive function in Rett syndrome: Profoundly impaired or near normal?
PMID: 29332766 [PubMed - in process] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - January 1, 2018 Category: Neurology Authors: Loffler G, Gordon GE Tags: Eur J Paediatr Neurol Source Type: research

Case series: Use of Glyceryl Trinitrate patches to improve peripheral circulation in children with severe neurodisability.
Abstract AIM: Evaluation of topical Glyceryl trinitrate as a therapeutic option to improve peripheral circulation in 16 children with severe complex neurodisability, poor capillary return and signs of vascular insufficiency, including discomfort. METHODS: If insufficient improvement in capillary return was obtained using conservative measures, a 5 mg GTN patch was placed each day on the front of the tibia of each leg. Children were reviewed clinically for up to 12 months of treatment. Distal limb comfort was measured using a Likert scale, either patient or carer reported. Standardised capillary refill ti...
Source: European Journal of Paediatric Neurology - December 31, 2017 Category: Neurology Authors: Morrison F, Fairhurst J, Fairhurst C Tags: Eur J Paediatr Neurol Source Type: research

Initial clinical presentation of young children with N-methyl-d-aspartate receptor encephalitis.
rat J Abstract Autoimmune encephalitis with anti-N-methyl-d-aspartate receptor autoantibodies (NMDA-R-Abs) is a recently described disease affecting adult and pediatric patients. Symptoms of the disease are now perfectly described in the adult population but the clinical presentation is less known in young children. The aim of the present study was to describe the clinical presentation and the specificities of symptoms presented by young children with NMDA-R-Abs encephalitis to improve diagnosis of this disease, and to compare these to a series of previously published female adult patients. Fifty cases of children...
Source: European Journal of Paediatric Neurology - December 28, 2017 Category: Neurology Authors: Favier M, Joubert B, Picard G, Rogemond V, Thomas L, Rheims S, Bailhache M, Villega F, Pédespan JM, Berzero G, Psimaras D, Antoine JC, Desestret V, Honnorat J Tags: Eur J Paediatr Neurol Source Type: research

Questionnaire survey on the current status of ketogenic diet therapy in patients with glucose transporter 1 deficiency syndrome (GLUT1DS) in Japan.
CONCLUSIONS: The families of patients showed a high level of satisfaction with the efficacy of KD therapy for the neurological symptoms. However, in order to continue KD therapy for a long period of time, its tolerability needs to be improved. PMID: 29307699 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - December 26, 2017 Category: Neurology Authors: Oguni H, Ito Y, Otani Y, Nagata S Tags: Eur J Paediatr Neurol Source Type: research

Circulating neural antibodies in unselected children with new-onset seizures.
ff CM Abstract OBJECTIVE: The role of autoimmunity and neural antibodies is increasingly recognized in different forms of seizures and epilepsy. Their prevalence in new-onset epilepsy has also recently been the focus of several clinical cohorts in the adult and pediatric population, with positive titers in 10-11% of cases. Our aim was to determine the seropositivity at the first seizure onset in a non-selective group of children. METHOD: We conducted a prospective multicenter cohort study recruiting children aged 0-16 years with new-onset seizures presenting at the In- and Outpatient Pediatric Neurology Depar...
Source: European Journal of Paediatric Neurology - December 21, 2017 Category: Neurology Authors: Garcia-Tarodo S, Datta AN, Ramelli GP, Maréchal-Rouiller F, Bien CG, Korff CM Tags: Eur J Paediatr Neurol Source Type: research

ATP1A3-related disorders: An update.
Abstract Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) are three distinct, yet partially overlapping clinical syndromes that have long been thought to be allelic disorders. From 2004 to 2012, both autosomal dominant and de novo mutations in ATP1A3 have been detected in patients affected by these three conditions. Growing evidence suggests that AHC, RDP and CAPOS syndrome are part of a large and continuously expanding clinical spectrum and share some recurrent clinical fea...
Source: European Journal of Paediatric Neurology - December 21, 2017 Category: Neurology Authors: Carecchio M, Zorzi G, Ragona F, Zibordi F, Nardocci N Tags: Eur J Paediatr Neurol Source Type: research

Reverse phenotyping to further define a new mitochondrial depletion syndrome caused by an ISCA2 mutation: Commentary on: Alfadhel et  al. Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases.
Reverse phenotyping to further define a new mitochondrial depletion syndrome caused by an ISCA2 mutation: Commentary on: Alfadhel et al. Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases. Eur J Paediatr Neurol. 2017 Dec 21;: Authors: Babiker MOE PMID: 29289521 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - December 21, 2017 Category: Neurology Authors: Babiker MOE Tags: Eur J Paediatr Neurol Source Type: research

Administering epilepsy rescue medication to children: Why and why not?
PMID: 29289524 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - December 21, 2017 Category: Neurology Authors: Mifsud J Tags: Eur J Paediatr Neurol Source Type: research