Neurological presentations of inborn errors of purine and pyrimidine metabolism
Eur J Paediatr Neurol. 2023 Dec 4;48:69-77. doi: 10.1016/j.ejpn.2023.11.013. Online ahead of print.ABSTRACTPurines and pyrimidines are essential components as they are the building blocks of vital molecules, such as nucleic acids, coenzymes, signalling molecules, as well as energy transfer molecules. Purine and pyrimidine metabolism defects are characterised by abnormal concentrations of purines, pyrimidines and/or their metabolites in cells or body fluids. This phenomenon is due to a decreased or an increased activity of enzymes involved in this metabolism and has been reported in humans for over 60 years. This review pro...
Source: European Journal of Paediatric Neurology - December 6, 2023 Category: Neurology Authors: Marie-C écile Nassogne Sandrine Marie Joseph P Dewulf Source Type: research

Neurological presentations of inborn errors of purine and pyrimidine metabolism
Eur J Paediatr Neurol. 2023 Dec 4;48:69-77. doi: 10.1016/j.ejpn.2023.11.013. Online ahead of print.ABSTRACTPurines and pyrimidines are essential components as they are the building blocks of vital molecules, such as nucleic acids, coenzymes, signalling molecules, as well as energy transfer molecules. Purine and pyrimidine metabolism defects are characterised by abnormal concentrations of purines, pyrimidines and/or their metabolites in cells or body fluids. This phenomenon is due to a decreased or an increased activity of enzymes involved in this metabolism and has been reported in humans for over 60 years. This review pro...
Source: European Journal of Paediatric Neurology - December 6, 2023 Category: Neurology Authors: Marie-C écile Nassogne Sandrine Marie Joseph P Dewulf Source Type: research

The emerging spectrum of neurodevelopmental comorbidities in early-onset Spinal Muscular Atrophy
Eur J Paediatr Neurol. 2023 Nov 23;48:67-68. doi: 10.1016/j.ejpn.2023.11.006. Online ahead of print.NO ABSTRACTPMID:38043384 | DOI:10.1016/j.ejpn.2023.11.006 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - December 3, 2023 Category: Neurology Authors: Giovanni Baranello Neurodevelopment in SMA Working Group Source Type: research

The emerging spectrum of neurodevelopmental comorbidities in early-onset Spinal Muscular Atrophy
Eur J Paediatr Neurol. 2023 Nov 23;48:67-68. doi: 10.1016/j.ejpn.2023.11.006. Online ahead of print.NO ABSTRACTPMID:38043384 | DOI:10.1016/j.ejpn.2023.11.006 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - December 3, 2023 Category: Neurology Authors: Giovanni Baranello Neurodevelopment in SMA Working Group Source Type: research

The emerging spectrum of neurodevelopmental comorbidities in early-onset Spinal Muscular Atrophy
Eur J Paediatr Neurol. 2023 Nov 23;48:67-68. doi: 10.1016/j.ejpn.2023.11.006. Online ahead of print.NO ABSTRACTPMID:38043384 | DOI:10.1016/j.ejpn.2023.11.006 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - December 3, 2023 Category: Neurology Authors: Giovanni Baranello Neurodevelopment in SMA Working Group Source Type: research

Real-life data comparing the efficacy of vigabatrin and oral steroids given sequentially or combined for infantile epileptic spasms syndrome
Eur J Paediatr Neurol. 2023 Nov 27;48:61-66. doi: 10.1016/j.ejpn.2023.11.009. Online ahead of print.ABSTRACTAIMS: The prognosis of Infantile epileptic spasm syndrome (IESS), relates to the underlying etiology and delay in controlling epileptic spasms. Based on the spasm-free rate, a randomized controlled trial has demonstrated the superiority of combining oral steroids and vigabatrin over oral steroids alone but confirmation in real-life conditions is mandatory.METHODS: We compared two real-life IESS cohorts: a multicenter, retrospective cohort of 40 infants treated with vigabatrin followed by a sequential (ST) addition of...
Source: European Journal of Paediatric Neurology - December 2, 2023 Category: Neurology Authors: Blandine Dozieres-Puyravel Hala Nasser Fran çois-Xavier Mauvais Anne De Saint Martin Caroline Perriard Chlo é Di Meglio Claude Cances Caroline Hachon-LE Camus Mathieu Milh St éphane Auvin Source Type: research

Real-life data comparing the efficacy of vigabatrin and oral steroids given sequentially or combined for infantile epileptic spasms syndrome
Eur J Paediatr Neurol. 2023 Nov 27;48:61-66. doi: 10.1016/j.ejpn.2023.11.009. Online ahead of print.ABSTRACTAIMS: The prognosis of Infantile epileptic spasm syndrome (IESS), relates to the underlying etiology and delay in controlling epileptic spasms. Based on the spasm-free rate, a randomized controlled trial has demonstrated the superiority of combining oral steroids and vigabatrin over oral steroids alone but confirmation in real-life conditions is mandatory.METHODS: We compared two real-life IESS cohorts: a multicenter, retrospective cohort of 40 infants treated with vigabatrin followed by a sequential (ST) addition of...
Source: European Journal of Paediatric Neurology - December 2, 2023 Category: Neurology Authors: Blandine Dozieres-Puyravel Hala Nasser Fran çois-Xavier Mauvais Anne De Saint Martin Caroline Perriard Chlo é Di Meglio Claude Cances Caroline Hachon-LE Camus Mathieu Milh St éphane Auvin Source Type: research

From diagnosis to treatment in genetic epilepsies: Implementation of precision medicine in real-world clinical practice
Eur J Paediatr Neurol. 2023 Nov 22;48:46-60. doi: 10.1016/j.ejpn.2023.11.003. Online ahead of print.ABSTRACTThe implementation of whole exome sequencing (WES) has had a major impact on the diagnostic yield of genetic testing in individuals with epilepsy. The identification of a genetic etiology paves the way to precision medicine: an individualized treatment approach, based on the disease pathophysiology. The aim of this retrospective cohort study was to: (1) determine the diagnostic yield of WES in a heterogeneous cohort of individuals with epilepsy referred for genetic testing in a real-world clinical setting, (2) invest...
Source: European Journal of Paediatric Neurology - December 1, 2023 Category: Neurology Authors: Matthias De Wachter An-Sofie Schoonjans Sarah Weckhuysen Kristof Van Schil Ann L öfgren Marije Meuwissen Anna Jansen Berten Ceulemans Source Type: research

From diagnosis to treatment in genetic epilepsies: Implementation of precision medicine in real-world clinical practice
Eur J Paediatr Neurol. 2023 Nov 22;48:46-60. doi: 10.1016/j.ejpn.2023.11.003. Online ahead of print.ABSTRACTThe implementation of whole exome sequencing (WES) has had a major impact on the diagnostic yield of genetic testing in individuals with epilepsy. The identification of a genetic etiology paves the way to precision medicine: an individualized treatment approach, based on the disease pathophysiology. The aim of this retrospective cohort study was to: (1) determine the diagnostic yield of WES in a heterogeneous cohort of individuals with epilepsy referred for genetic testing in a real-world clinical setting, (2) invest...
Source: European Journal of Paediatric Neurology - December 1, 2023 Category: Neurology Authors: Matthias De Wachter An-Sofie Schoonjans Sarah Weckhuysen Kristof Van Schil Ann L öfgren Marije Meuwissen Anna Jansen Berten Ceulemans Source Type: research

Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel
Eur J Paediatr Neurol. 2023 Nov 13;48:17-29. doi: 10.1016/j.ejpn.2023.10.006. Online ahead of print.ABSTRACTOBJECTIVE: Developmental and epileptic encephalopathies (DEEs) are a group of severe, early-onset epilepsies characterised by refractory seizures, developmental delay, or regression and generally poor prognosis. DEE are now known to have an identifiable molecular genetic basis and are usually examined using a gene panel. However, for many patients, the genetic cause has still not been identified. The aims of this study were to identify causal variants for DEE in patients for whom the previous examination with a gene ...
Source: European Journal of Paediatric Neurology - November 26, 2023 Category: Neurology Authors: Lucie Sedlackova Katalin Sterbova Marketa Vlckova Pavel Seeman Jana Zarubova Petr Marusic Pavel Krsek Hana Krijtova Alena Musilova Petra Lassuthova Source Type: research

Respiratory function in LAMA2-related muscular dystrophy and SELENON-related congenital myopathy, a 1.5-year natural history study
CONCLUSION: The majority of LAMA2-MD and all SELENON-RM patients had respiratory impairment. SELENON-RM patients showed lower respiratory function which was progressive, more prevalent mechanical ventilation, and more severe diaphragm atrophy and dysfunction than LAMA2-MD patients. Spirometry (FVC%, dVC) and respiratory muscle strength tests (SNIP) are useful in clinical care and as outcome measure in clinical trials.CLINICAL TRIAL NUMBER: NCT04478981.PMID:38008001 | DOI:10.1016/j.ejpn.2023.11.005 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - November 26, 2023 Category: Neurology Authors: Karlijn Bouman Jeroen L M van Doorn Jan T Groothuis Peter J Wijkstra Baziel G M van Engelen Corrie E Erasmus Jonne Doorduin Nicol C Voermans Source Type: research

An online survey among general pediatricians on melatonin use in children with chronic insomnia
CONCLUSIONS: MLT is widely prescribed by Italian pediatricians, but no consensus exists about its use in typically developing children. There is a need for clear guidelines to optimize the use of MLT in healthy children.PMID:38008002 | DOI:10.1016/j.ejpn.2023.11.004 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - November 26, 2023 Category: Neurology Authors: Oliviero Bruni Maria Breda Emanuela Malorgio Paolo Brambilla Flavia Ceschin Andrea Di Pilla Maurizio Elia Raffaele Ferri Source Type: research

Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel
Eur J Paediatr Neurol. 2023 Nov 13;48:17-29. doi: 10.1016/j.ejpn.2023.10.006. Online ahead of print.ABSTRACTOBJECTIVE: Developmental and epileptic encephalopathies (DEEs) are a group of severe, early-onset epilepsies characterised by refractory seizures, developmental delay, or regression and generally poor prognosis. DEE are now known to have an identifiable molecular genetic basis and are usually examined using a gene panel. However, for many patients, the genetic cause has still not been identified. The aims of this study were to identify causal variants for DEE in patients for whom the previous examination with a gene ...
Source: European Journal of Paediatric Neurology - November 26, 2023 Category: Neurology Authors: Lucie Sedlackova Katalin Sterbova Marketa Vlckova Pavel Seeman Jana Zarubova Petr Marusic Pavel Krsek Hana Krijtova Alena Musilova Petra Lassuthova Source Type: research

Respiratory function in LAMA2-related muscular dystrophy and SELENON-related congenital myopathy, a 1.5-year natural history study
CONCLUSION: The majority of LAMA2-MD and all SELENON-RM patients had respiratory impairment. SELENON-RM patients showed lower respiratory function which was progressive, more prevalent mechanical ventilation, and more severe diaphragm atrophy and dysfunction than LAMA2-MD patients. Spirometry (FVC%, dVC) and respiratory muscle strength tests (SNIP) are useful in clinical care and as outcome measure in clinical trials.CLINICAL TRIAL NUMBER: NCT04478981.PMID:38008001 | DOI:10.1016/j.ejpn.2023.11.005 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - November 26, 2023 Category: Neurology Authors: Karlijn Bouman Jeroen L M van Doorn Jan T Groothuis Peter J Wijkstra Baziel G M van Engelen Corrie E Erasmus Jonne Doorduin Nicol C Voermans Source Type: research

An online survey among general pediatricians on melatonin use in children with chronic insomnia
CONCLUSIONS: MLT is widely prescribed by Italian pediatricians, but no consensus exists about its use in typically developing children. There is a need for clear guidelines to optimize the use of MLT in healthy children.PMID:38008002 | DOI:10.1016/j.ejpn.2023.11.004 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - November 26, 2023 Category: Neurology Authors: Oliviero Bruni Maria Breda Emanuela Malorgio Paolo Brambilla Flavia Ceschin Andrea Di Pilla Maurizio Elia Raffaele Ferri Source Type: research