European Journal of Paediatric Neurology 
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Group
Abstract
AIM: To investigate health-related quality of life (HRQOL) and manual ability five years after neonatal arterial ischemic stroke (NAIS).
METHODS: Data was prospectively obtained by the Swiss Neuropaediatric Stroke Registry between 2000 and 2010. Two years after NAIS, cognitive and motor outcomes was assessed using the Bayley Scales of Infant Development (BSID-II). After 5 years, HRQOL was assessed with the KIDSCREEN-27 and manual ability with the ABILHAND-Kids. Manual ability and HRQOL were compared between children with and without cerebral palsy (CP) and HRQOL was correlated with manual abili...
Source: European Journal of Paediatric Neurology - August 12, 2019 Category: Neurology Authors: Caspar-Teuscher M, Studer M, Regényi M, Steinlin M, Grunt S, Swiss Neuropediatric Stroke Registry Group Tags: Eur J Paediatr Neurol Source Type: research
Physical activity, fatigue and sleep quality at least 6 months after mild traumatic brain injury in adolescents and young adults: A comparison with orthopedic injury controls.
CONCLUSIONS: Identifying symptoms and limitations in activities is important after mTBI so that rehabiliation treatment can be initiated. Whether physical activity or fatigue is the best target for treatment remains to be established.
PMID: 31466810 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - August 9, 2019 Category: Neurology Authors: van Markus-Doornbosch F, Peeters E, Volker G, van der Pas S, Vliet Vlieland T, Meesters J Tags: Eur J Paediatr Neurol Source Type: research
Centromedian thalamic nuclei deep brain stimulation and Anakinra treatment for FIRES - Two different outcomes.
Abstract
Febrile infection-related epilepsy syndrome (FIRES) is a severe epilepsy disorder that affects previously healthy children. It carries high likelihood of unfavourable outcome and putative aetiology relates to an auto-inflammatory process. Standard antiepileptic drug therapies including intravenous anaesthetic agents are largely ineffective in controlling status epilepticus in FIRES. Deep brain stimulation of the centromedian thalamic nuclei (CMN-DBS) has been previously used in refractory status epilepticus in only a few cases. The use of Anakinra (a recombinant version of the human interleukin-1 receptor...
Source: European Journal of Paediatric Neurology - August 8, 2019 Category: Neurology Authors: Sa M, Singh R, Pujar S, D'Arco F, Desai N, Eltze C, Hughes E, Al Obaidi M, Eleftheriou D, Tisdall M, Selway R, Cross JH, Kaliakatsos M, Valentin A Tags: Eur J Paediatr Neurol Source Type: research
Effects of forward tilted seating and foot-support on postural adjustments in children with spastic cerebral palsy: An EMG-study.
Abstract
OBJECTIVE: To evaluate the effect of 15° forward (FW) seat inclination and foot-support in children with cerebral palsy (CP) on postural adjustments during reaching.
DESIGN: Observational study repeated-measures design; step two of two-step-project.
SETTING: Laboratory unit within University Hospital and two special education schools.
PARTICIPANTS: 19 children (ten unilateral spastic CP (US-CP); nine bilateral spastic CP (BS-CP); Gross Motor Function Classification System levels I-III; 6-12 years old). Participants were able to take part for one one-hour session.
INTERVENTION: Reac...
Source: European Journal of Paediatric Neurology - August 1, 2019 Category: Neurology Authors: Angsupaisal M, Dijkstra LJ, la Bastide-van Gemert S, van Hoorn JF, Burger K, Maathuis CGB, Hadders-Algra M Tags: Eur J Paediatr Neurol Source Type: research
There is more to individuals with dyskinetic cerebral palsy than meets the eye.
PMID: 31324274 [PubMed - in process] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - July 1, 2019 Category: Neurology Authors: Himmelmann K Tags: Eur J Paediatr Neurol Source Type: research
Abusive head trauma and the cerebellum: Another piece of the puzzle.
PMID: 31324275 [PubMed - in process] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - July 1, 2019 Category: Neurology Authors: Wittschieber D Tags: Eur J Paediatr Neurol Source Type: research
Treadmill therapy in cerebral palsy.
PMID: 31324276 [PubMed - in process] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - July 1, 2019 Category: Neurology Authors: Mall V Tags: Eur J Paediatr Neurol Source Type: research
Focusing on cognitive morbidity in childhood brain tumours.
PMID: 31324277 [PubMed - in process] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - July 1, 2019 Category: Neurology Authors: Dorris L, Molinari E, Murphy D Tags: Eur J Paediatr Neurol Source Type: research
Outpatient initiation of the ketogenic diet in children with pharmacoresistant epilepsy: An effectiveness, safety and economic perspective.
CONCLUSIONS: Our study suggests that outpatient KD initiation is no worse than inpatient initiation in terms of effectiveness and safety, while carrying lower health care costs.
PMID: 31300320 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - June 29, 2019 Category: Neurology Authors: van der Louw E, Olieman J, Poley MJ, Wesstein T, Vehmeijer F, Catsman-Berrevoets C, Neuteboom R Tags: Eur J Paediatr Neurol Source Type: research
Efficacy of antiepileptic drugs in the era of pharmacogenomics: A focus on childhood.
CONCLUSION: Variability in genes coding for sodium channels, drug transporters and cytochrome P450 enzymes can have a significant impact on response to antiepileptic drugs. Larger prospective studies with better stratification of samples are needed to shed light on these associations.
PMID: 31280948 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - June 28, 2019 Category: Neurology Authors: Gogou M, Pavlou E Tags: Eur J Paediatr Neurol Source Type: research
Epigenetics and noncoding RNA: Recent developments and future therapeutic opportunities.
Abstract
Acquired and genetic forms of epilepsy are associated with dysregulation of gene expression within the brain. Identifying mechanisms controlling gene expression may provide novel opportunities for the development of disease-modifying therapies. Epigenetic processes influence the medium-to long-term readability and accessibility of the genome to transcription. The mediators include biochemical modifications to DNA and the histones around which DNA is wrapped, as well as non-coding RNAs. Here, the main epigenetic processes are briefly reviewed. Examples are provided of altered epigenetic processes and mutat...
Source: European Journal of Paediatric Neurology - June 12, 2019 Category: Neurology Authors: Henshall DC Tags: Eur J Paediatr Neurol Source Type: research
Myoclonic epilepsy with photosensitivity in infants with Pallister-Killian Syndrome.
CONCLUSIONS: early-onset myoclonic epilepsy is a possible clinical manifestation of PKS. Low-frequency photosensitivity is a peculiar bioelectrical marker in these children.
PMID: 31178275 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - May 25, 2019 Category: Neurology Authors: Ricci E, Bonfatti R, Rocca A, Sperti G, Cagnazzo V, Vignoli A, Cocchi G, Cordelli DM Tags: Eur J Paediatr Neurol Source Type: research
Abnormal circadian rhythm in patients with GRIN1-related developmental epileptic encephalopathy.
Abstract
GRIN1 encodes the obligate subunit (GluN1) of glutamate N-methyl-d-aspartate receptor (NMDAr). Pathogenic variants in GRIN1 are a well-known cause of infantile encephalopathy characterized by profound developmental delay (DD), variable epileptic phenotypes, and distinctive behavioral abnormalities. Recently, GRIN1 has also been implicated in the pathogenesis of polymicrogyria (PMG). We investigated two patients presenting with severe intellectual disability (ID), epilepsy, stereotyped movements, and abnormal ocular movements. They showed distinctive circadian rhythm alterations and sleep-wake patterns ano...
Source: European Journal of Paediatric Neurology - May 24, 2019 Category: Neurology Authors: Scala M, Amadori E, Fusco L, Marchese F, Capra V, Minetti C, Vari MS, Striano P Tags: Eur J Paediatr Neurol Source Type: research
Three by three weeks of robot-enhanced repetitive gait therapy within a global rehabilitation plan improves gross motor development in children with cerebral palsy - a retrospective cohort study.
AS
Abstract
AIM: To assess the improvement in gross motor function following three blocks of a three-week, intensive robot-enhanced treadmill therapy (ROBERT-Program).
METHOD: retrospective chart review in a before-after interventional trial in children with cerebral palsy attending a university hospital outpatient rehabilitation centre. Patients received three blocks of a three-week, 12 sessions ROBERT-Program over a mean period of 24 months. Outcome measures were block specific and cumulative improvement in GMFM 66, D and E. Longterm GMFM 66 improvements were compared to the individuals' expected increment...
Source: European Journal of Paediatric Neurology - May 18, 2019 Category: Neurology Authors: Weinberger R, Warken B, König H, Vill K, Gerstl L, Borggraefe I, Heinen F, von Kries R, Schroeder AS Tags: Eur J Paediatr Neurol Source Type: research
Changes of third ventricle diameter (TVD) mirror changes of the entire ventricular system after initial therapy and during follow-up in pediatric hydrocephalus.
This study compares changes of TVD with changes of ventricular indices before and after initial treatment of hydrocephalus and during the following evolution.
METHODS: MRT/CT images from 117 children with hydrocephalus were evaluated at time of diagnosis, after initial therapy and during follow-up with functional shunts. Measurements included axial TVD and three standard linear measures of the lateral ventricles (Evans Index - EI, fronto-occipital horn ratio - FOHR Index, and Cella Media Index - CMI). Furthermore, a correlation within subjects was calculated in 8 patients over the entire available follow-up.
RESU...
Source: European Journal of Paediatric Neurology - May 17, 2019 Category: Neurology Authors: Kerscher SR, Schweizer LL, Nägele T, Weichselbaum A, Haas-Lude K, Schuhmann MU Tags: Eur J Paediatr Neurol Source Type: research
Cerebellar lesions in pediatric abusive head trauma.
We report the clinical history and the development of cerebral magnetic resonance imaging findings in two children with serious brain injury following probable shaking who presented the typical "triad" with subdural haematoma, retinal haemorrhage and encephalopathy. We want to draw attention to cerebellar involvement characterized by cortico-subcortical signal alterations most prominent on T2w images following diffusion changes during the acute period. We discuss cerebellar involvement as a sign of higher severity of AHT which is probably underrecognized.
PMID: 31147107 [PubMed - as supplied by publisher] (S...
Source: European Journal of Paediatric Neurology - May 17, 2019 Category: Neurology Authors: Haas-Lude K, Roulet-Perez E, Döbler-Neumann M, Groeschel S, Nägele T, Krägeloh-Mann I Tags: Eur J Paediatr Neurol Source Type: research
Acquired sensorimotor polyneuropathy in an adolescent boy with primary intracranial sarcoma.
We report on a 15-year-old male patient who presented with progressive gait instability, ataxia, neuropathic pain, distal muscle weakness and progressive loss of ambulation. Nerve conduction studies (NCS) revealed a progressive demyelinating sensorimotor polyneuropathy predominantly of the lower limbs. Cerebrospinal fluid (CSF) analyses revealed a cytoalbuminologic dissociation. Extensive diagnostic workup for autoantibodies and inflammatory markers was inconclusive. Corticosteroids and intravenous immunoglobulins did not affect. Cranial MRI revealed leptomeningeal enhancement of the cerebellum and the brainstem. Brain bio...
Source: European Journal of Paediatric Neurology - May 4, 2019 Category: Neurology Authors: Storch K, Schriever V, Hahn G, Sell K, Smitka M, Suttorp M, von der Hagen M, Schallner J Tags: Eur J Paediatr Neurol Source Type: research
The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome.
Abstract
Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that is caused by mutations in the MECP2 gene; however, defects in other genes (CDKL5 and FOXG1) can lead to presentations that resemble classic RTT, although they are not completely identical. Here, we attempted to identify other monogenic disorders that share features of RTT. A total of 437 patients with a clinical diagnosis of RTT-like were studied; in 242 patients, a custom panel with 17 genes related to an RTT-like phenotype was run via a HaloPlex-Target-Enrichment-System. In the remaining 195 patients, a commercial TruSight-One-Sequen...
Source: European Journal of Paediatric Neurology - May 2, 2019 Category: Neurology Authors: Vidal S, Brandi N, Pacheco P, Maynou J, Fernandez G, Xiol C, Pascual-Alonso A, Pineda M, Rett Working Group, Armstrong J Tags: Eur J Paediatr Neurol Source Type: research
Early prediction of unilateral cerebral palsy in infants with asymmetric perinatal brain injury - Model development and internal validation.
CONCLUSIONS: Combining neonatal MRI, the HAI, gestational age and sex accurately identify the prognostic risk of UCP at 3.5-4.5 months in infants with APBI.
PMID: 31078397 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - April 27, 2019 Category: Neurology Authors: Ryll UC, Wagenaar N, Verhage CH, Blennow M, de Vries LS, Eliasson AC Tags: Eur J Paediatr Neurol Source Type: research
Is diffuse axonal injury on susceptibility weighted imaging a biomarker for executive functioning in adolescents with traumatic brain injury?
Abstract
Traumatic brain injury (TBI) is a heterogeneous disorder in which diffuse axonal injury (DAI) is an important component contributing to executive dysfunction. During adolescence, developing brain networks are especially vulnerable to acceleration-deceleration forces. We aimed to examine the correlation between DAI (number and localization) and executive functioning in adolescents with TBI. We recruited 18 adolescents with a mean age of 15y8m (SD = 1y7m), averaging 2.5 years after sustaining a moderate-to-severe TBI with documented DAI. Susceptibility Weighted Imaging sequence was administered to...
Source: European Journal of Paediatric Neurology - April 16, 2019 Category: Neurology Authors: Catharine VL, Helena V, Eva G, Ellen D, Karen C, Guy V, Karel D Tags: Eur J Paediatr Neurol Source Type: research
Evolution of pediatric epilepsy surgery program over 2000-2017: Improvement of care?
CONCLUSION: In the established pediatric epilepsy surgery program, our patients underwent epilepsy surgery at younger age and suffered from more complex structural pathology. Outcomes and including complication rate remained stable.
PMID: 31023627 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - April 15, 2019 Category: Neurology Authors: Belohlavkova A, Jezdik P, Jahodova A, Kudr M, Benova B, Maulisova A, Liby P, Vaculik M, Lesko R, Kyncl M, Zamecnik J, Tichy M, Komarek V, Krsek P Tags: Eur J Paediatr Neurol Source Type: research
Spectrum of the neurologic manifestations in childhood-onset cryopyrin-associated periodic syndrome.
CONCLUSION: Half of the children with CAPS exhibited neurologic manifestations with varying degrees of severity. Increased understanding and awareness of this rare but treatable syndrome among neurologists is essential. If remains untreated and unrecognized, this autoinflammatory syndrome could lead to significant morbidity and mortality. Besides complete resolution of systemic symptoms, anti-interleukin-1 treatment may also prevent progression of neurologic findings when initiated in the early stage of the disease.
PMID: 30967326 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - March 28, 2019 Category: Neurology Authors: Kilic H, Sahin S, Duman C, Adrovic A, Barut K, Turanli ET, Yildirim SR, Kizilkilic O, Kasapcopur O, Saltik S Tags: Eur J Paediatr Neurol Source Type: research
Gait deviations in patients with dravet syndrome: A systematic review.
CONCLUSIONS: A variety of gait characteristics was observed with crouch gait being the most reported gait pattern. Inconsistency in methods and findings from clinical and instrumented evaluation impede thorough understanding of the causal mechanism and evolution behind these deviations.
PROSPERO REGISTRATION NUMBER: CRD42017070370.
PMID: 30940509 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - March 22, 2019 Category: Neurology Authors: Wyers L, Van de Walle P, Hoornweg A, Tepes Bobescu I, Verheyen K, Ceulemansd B, Schoonjans AS, Desloovere K, Hallemans A Tags: Eur J Paediatr Neurol Source Type: research
Clinical and genetic spectrum of SCN2A-associated episodic ataxia.
CONCLUSIONS: Our study describes the heterogeneous clinical spectrum of SCN2A-associated EA, identifies two mutational hotspots and shows positive effects of acetazolamide in about 50%.
PMID: 30928199 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - March 7, 2019 Category: Neurology Authors: Schwarz N, Bast T, Gaily E, Golla G, Gorman KM, Griffiths LR, Hahn A, Hukin J, King M, Korff C, Miranda MJ, Møller RS, Neubauer B, Smith RA, Smol T, Striano P, Stroud B, Vaccarezza M, Kluger G, Lerche H, Fazeli W Tags: Eur J Paediatr Neurol Source Type: research
Incidence and mortality of moderate and severe traumatic brain injury in children: A ten year population-based cohort study in Norway.
CONCLUSION: The incidence rates and mortality of moderate and severe TBI were low compared to international reports. Most likely explained by successful national prevention of TBI.
PMID: 30879962 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - March 4, 2019 Category: Neurology Authors: Olsen M, Vik A, Lund Nilsen TI, Uleberg O, Moen KG, Fredriksli O, Lien E, Finnanger TG, Skandsen T Tags: Eur J Paediatr Neurol Source Type: research
Functional outcome after traumatic cervical spinal cord injury: Can adolescents be truly compared to adults?
PMID: 30876647 [PubMed - in process] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - March 1, 2019 Category: Neurology Authors: Wirtz MM, Griessenauer CJ Tags: Eur J Paediatr Neurol Source Type: research
Nesprinopathy: A multi-faceted genetic disorder.
PMID: 30876648 [PubMed - in process] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - March 1, 2019 Category: Neurology Authors: Bektaş H, Topaloglu H Tags: Eur J Paediatr Neurol Source Type: research
Attention measures of patients with Rett Syndrome need to overcome the challenges in evaluating the oculomotor function using electronystagmography.
PMID: 30876649 [PubMed - in process] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - March 1, 2019 Category: Neurology Authors: Fabio RA Tags: Eur J Paediatr Neurol Source Type: research
GLUT1 deficiency and pediatric-onset hereditary spastic paraplegia: A new association.
PMID: 30876650 [PubMed - in process] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - March 1, 2019 Category: Neurology Authors: Verrotti A, Di Francesco L, Striano P Tags: Eur J Paediatr Neurol Source Type: research
Burden-of-illness and cost-driving factors in Dravet syndrome patients and carers: A prospective, multicenter study from Germany.
CONCLUSIONS: This study over a period up to 15 months revealed substantial direct and indirect healthcare costs of DS in Germany and highlights the relatively low patient and caregiver QoL compared with the general population.
PMID: 30871879 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - February 28, 2019 Category: Neurology Authors: Strzelczyk A, Kalski M, Bast T, Wiemer-Kruel A, Bettendorf U, Kay L, Kieslich M, Kluger G, Kurlemann G, Mayer T, Neubauer BA, Polster T, Herting A, von Spiczak S, Trollmann R, Wolff M, Irwin J, Carroll J, Macdonald D, Pritchard C, Klein KM, Rosenow F, Sch Tags: Eur J Paediatr Neurol Source Type: research
Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3.
We describe herein eight new pediatric cases. Most of them had no specific history when the first neurological decompensation episode occurred, before the age of 5 years, triggered by fever with severe paralytic hypotonia followed by ataxia with or without abnormal movements. Neurological sequelae with ataxia as the predominant symptom were present after the first episode in three cases and after at least one subsequent relapse in five cases. Five of the eight cases had a familial involvement with one of the two parents affected. The phenotype-genotype correlation is unequivocal with the causal substitution always located ...
Source: European Journal of Paediatric Neurology - February 22, 2019 Category: Neurology Authors: Sabouraud P, Riquet A, Spitz MA, Deiva K, Nevsimalova S, Mignot C, Lesca G, Bednarek N, Doummar D, Pietrement C, Laugel V Tags: Eur J Paediatr Neurol Source Type: research
Neurological complications in childhood nephrotic syndrome: A systematic review.
CONCLUSIONS: Neurological complications may occur in children with primary NS and risk factors during nephrotic state relapses. The outcome for PRES has been reported favorable. Outcome in cerebral TE events may differ by the presence of venous or artery infarct. Recognition of additional protrombotic state risk factors may help to lower the incidence of neurological complications.
PMID: 30837193 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - February 22, 2019 Category: Neurology Authors: Stabouli S, Chrysaidou K, Kupferman JC, Zafeiriou DI Tags: Eur J Paediatr Neurol Source Type: research
Cortical malformations and COL4A1 mutation: Three new cases.
Abstract
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. Cortical malformations (specifically schizencephaly) have also recently been described in these patients, suggesting that these, too, could be part of the phenotypic spectrum of COL4A1 mutations. The aim of our work was to retrospectively evaluate COL4A1-mutated subjects diagnosed at our centers in order to assess...
Source: European Journal of Paediatric Neurology - February 22, 2019 Category: Neurology Authors: Vitale G, Pichiecchio A, Ormitti F, Tonduti D, Asaro A, Farina L, Piccolo B, Percesepe A, Bastianello S, Orcesi S, COL4A1 International Study Group Tags: Eur J Paediatr Neurol Source Type: research
The genetic etiology in cerebral palsy mimics: The results from a Greek tertiary care center.
CONCLUSIONS: CP mimics show a number of features that differ from classic CP and can be used as diagnostic clues, including presence of mixed motor features, minor dysmorphic features, oculogyric movements, multiple features of autonomic dysfunction, and acquired microcephaly. A more stringent use of the concept of CP focused on acquired lesions during the perinatal and infancy periods, and excluding disorders that could be of genetic origin, could contribute to a purer use of the term. Identification of a specific genetic cause for CP mimics may in certain cases lead to etiologic treatment.
PMID: 30799092 [PubMed - a...
Source: European Journal of Paediatric Neurology - February 14, 2019 Category: Neurology Authors: Zouvelou V, Yubero D, Apostolakopoulou L, Kokkinou E, Bilanakis M, Dalivigka Z, Nikas I, Kollia E, Perez-Dueñas B, Macaya A, Marcé-Grau A, Voutetakis A, Anagnostopoulou K, Kekou K, Sofocleus C, Veltra D, Kokkinis X, Fryssira H, Torres RJ, Amstrong J, Sa Tags: Eur J Paediatr Neurol Source Type: research
Expanding phenotype of mitochondrial depletion syndrome in association with TWNK mutations.
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. Our recent observation confirms that nephrocalcinosis and proximal tubulopathy can be a part of a clinical picture of MDS associated with TWNK mutations and document peculiar ocular and orobuccolingual dyskinesias. Wrist myoclonia and tongue tremor were new clinical featu...
Source: European Journal of Paediatric Neurology - February 14, 2019 Category: Neurology Authors: Sukhudyan B, Gevorgyan A, Sarkissian A, Boltshauser E Tags: Eur J Paediatr Neurol Source Type: research
Modalities of reading acquisition in three siblings with infantile-onset saccade initiation delay (Cogan congenital ocular motor apraxia): A longitudinal study.
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.e. T1 hereafter); B: female, 7y3m at T1 and C: male, 5y9m at T1) suffering from ISID were assessed longitudinally over 3 years in various reading tests and their eye movements simultaneously registered. At each time-point, they were compared to control part...
Source: European Journal of Paediatric Neurology - February 8, 2019 Category: Neurology Authors: Cohen M, Zesiger P, Merlini L, de Haller R, Fluss J Tags: Eur J Paediatr Neurol Source Type: research
Cerebral palsy among children of immigrants in Denmark and the role of socioeconomic status.
CONCLUSIONS: While children of immigrants had lower risk of unilateral spastic CP than children of Danish-born mothers, the risk of bilateral spastic CP was increased in children of Non-Western immigrants. Socioeconomic status did not appear to be a significant contributor to the increased risk of bilateral spastic CP.
PMID: 30777617 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - February 4, 2019 Category: Neurology Authors: Petersen TG, Forthun I, Lange T, Villadsen SF, Nybo Andersen AM, Uldall P, Strandberg-Larsen K Tags: Eur J Paediatr Neurol Source Type: research
Predictive factors and prognostic value for status epilepticus in newborns.
CONCLUSION: Two independent risk factors for SE in newborns have been identified: a severely abnormal initial neurological examination and hypoglycaemia. In newborns with isolated seizures, the only positive prognostic factor was found to be a normal postictal clinical examination.
PMID: 30737142 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - January 29, 2019 Category: Neurology Authors: Gokce-Samar Z, Ostrowsky-Coste K, Gauthier-Morel D, Keo-Kosal P, De Regnauld De Bellescize J, Montavont A, Panagiotakaki E, Claris O, Arzimanoglou A Tags: Eur J Paediatr Neurol Source Type: research
A population-based and case-controlled study of children and adolescents with narcolepsy: Health-related quality of life, adaptive behavior and parental stress.
lböök T
Abstract
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). In addition, 40 age- and gender-matched controls (aged 5-20 years) were recruited.
RESULTS: Thirty-one patients completed the generic HrQoL questionnaire KIDSCREEN an...
Source: European Journal of Paediatric Neurology - January 19, 2019 Category: Neurology Authors: Szakács A, Chaplin JE, Tideman P, Strömberg U, Nilsson J, Darin N, Hallböök T Tags: Eur J Paediatr Neurol Source Type: research
Clinical deterioration despite syringomyelia resolution after successful foramen magnum decompression for Chiari malformation - Case series.
CONCLUSION: Syringomyelia symptoms may appear or worsen following successful surgical treatment and radiological resolution of syrinx and it is important to counsel young people and their family regarding this.
PMID: 30683486 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - January 14, 2019 Category: Neurology Authors: Shetty J, Kandasamy J, Sokol D, Gallo P Tags: Eur J Paediatr Neurol Source Type: research
Acute flaccid myelitis caused by enterovirus D68: Case definitions for use in clinical practice.
Abstract
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. Current case definitions are focussing on epidemiological aspects but clinical case definitions are still missing. We propose the following case definitions to be used in clinical practice in order to mirror clinical realities and facilitate a common systematic appro...
Source: European Journal of Paediatric Neurology - January 11, 2019 Category: Neurology Authors: Kramer R, Lina B, Shetty J Tags: Eur J Paediatr Neurol Source Type: research
Erratum to "Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency - A follow-up EMG study of 12 patients" [Eur J Paediatr Neuro 20 (2016) 38-44].
Erratum to "Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency - A follow-up EMG study of 12 patients" [Eur J Paediatr Neuro 20 (2016) 38-44].
Eur J Paediatr Neurol. 2019 Jan;23(1):228
Authors: Immonen T, Ahola E, Toppila J, Lapatto R, Tyni T, Lauronen L
PMID: 30642532 [PubMed - in process] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - January 1, 2019 Category: Neurology Authors: Immonen T, Ahola E, Toppila J, Lapatto R, Tyni T, Lauronen L Tags: Eur J Paediatr Neurol Source Type: research
Editorial note.
PMID: 30642533 [PubMed - in process] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - January 1, 2019 Category: Neurology Authors: Zuberi SM Tags: Eur J Paediatr Neurol Source Type: research
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?
PMID: 30642534 [PubMed - in process] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - January 1, 2019 Category: Neurology Authors: Catsman-Berrevoets C Tags: Eur J Paediatr Neurol Source Type: research
Editorial relating to paper by Schoonjans et al. EJPN 2019; A good night's sleep in Dravet syndrome - an unmet need.
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 Jan;23(1):6
Authors: Brunklaus A
PMID: 30642535 [PubMed - in process] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - January 1, 2019 Category: Neurology Authors: Brunklaus A Tags: Eur J Paediatr Neurol Source Type: research
Re-emergence of SSPE: Consequence of the decline of adherence to vaccination programmes?
PMID: 30616885 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - December 30, 2018 Category: Neurology Authors: Masnada S, Zuccotti GV, Bova SM, Gatti H, Morabito V, Santarone ME, Bianchimano B, Dilillo D, Fusco L, Veggiotti P Tags: Eur J Paediatr Neurol Source Type: research
Epilepsy in children with type 1 diabetes mellitus: Pathophysiological basis and clinical hallmarks.
Abstract
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. These two disorders share four potential distinct pathogenic factors: a) genetic predisposition; b) factors involved in autoimmune responses (i.e. anti-glutamic acid decarboxylase antibodies-GADAbs); c) effects of hypo/hyperglycaemia; d) cerebrovascular damages resulting in ischaemic processes. Seizures s...
Source: European Journal of Paediatric Neurology - December 21, 2018 Category: Neurology Authors: Mastrangelo M, Tromba V, Silvestri F, Costantino F Tags: Eur J Paediatr Neurol Source Type: research
Cognitive-behavioural treatment of functional neurological symptoms (conversion disorder) in children and adolescents: A case series.
Abstract
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 = 2.6, range 6-17 years) completed treatment with cognitive behaviour therapy embedded in routine child and adolescent clinical/systemic practice. Treatment outcomes were measured at baseline and post-intervention on the Child Global Assessment Scale (CGAS), Strengths and Difficulties Questionnaire (SDQ), Goal Based Outcomes (G...
Source: European Journal of Paediatric Neurology - December 13, 2018 Category: Neurology Authors: McFarlane FA, Allcott-Watson H, Hadji-Michael M, McAllister E, Stark D, Reilly C, Bennett SD, McWillliams A, Heyman I Tags: Eur J Paediatr Neurol Source Type: research
Functional outcome after traumatic cervical spinal cord injury is superior in adolescents compared to adults.
idmueller D
Abstract
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. According to their age at accident, age 13 to 17, patients were selected for the adolescent group. After applying in- and exclusion crite...
Source: European Journal of Paediatric Neurology - December 11, 2018 Category: Neurology Authors: Geuther M, Grassner L, Mach O, Klein B, Högel F, Voth M, Bühren V, Maier D, Abel R, Weidner N, Rupp R, Fürstenberg CH, EMSCI study group, Schneidmueller D Tags: Eur J Paediatr Neurol Source Type: research
Tribute to Linda Joanna DE MEIRLEIR.
PMID: 30579698 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - December 7, 2018 Category: Neurology Authors: Tein I Tags: Eur J Paediatr Neurol Source Type: research
