Quality of life and support needs in children, adolescents, and young adults with facioscapulohumeral dystrophy, a mixed-method study
DISCUSSION: Quality of life in childhood FSHD is diminished caused by their physical limitations, altered appearance, fear of social rejection, and uncertainty of the disease progression in the future. A fear of social rejection most likely contributes to striving for normality regardless of physical discomfort. Support should be focused on acceptance and coping with hurtful comments. It should preferably be individualized, easily accessible and not offered as therapy but rather as tutoring for children.PMID:38692157 | DOI:10.1016/j.ejpn.2024.04.006 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - May 1, 2024 Category: Neurology Authors: Jildou N Dijkstra Nathani ël B Rasing Helena T M Boon Sandra Altena-Rensen Edith H C Cup Anke Lanser Ietske J Siemann Baziel G van Engelen Corrie E Erasmus Nicol C Voermans Source Type: research

Corrigendum to "Autoantibody status, neuroradiological and clinical findings in children with acute cerebellitis" [Eur. J. Paediatr. Neurol. 47 (2023) 118-130]
Eur J Paediatr Neurol. 2024 Apr 30:S1090-3798(24)00056-4. doi: 10.1016/j.ejpn.2024.04.010. Online ahead of print.NO ABSTRACTPMID:38692980 | DOI:10.1016/j.ejpn.2024.04.010 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - May 1, 2024 Category: Neurology Authors: L Quack S Glatter A Wegener-Panzer R Cleaveland A Bertolini V Endmayr R Seidl M Breu E Wendel M Schimmel M Baumann M Rauchenzauner M Pritsch N Boy T Muralter G Kluger C Makoswski V Kraus S Leiz C Loehr-Nilles J H Kreth S Braig S Schilling J Kern C Blank B Source Type: research

Quality of life and support needs in children, adolescents, and young adults with facioscapulohumeral dystrophy, a mixed-method study
DISCUSSION: Quality of life in childhood FSHD is diminished caused by their physical limitations, altered appearance, fear of social rejection, and uncertainty of the disease progression in the future. A fear of social rejection most likely contributes to striving for normality regardless of physical discomfort. Support should be focused on acceptance and coping with hurtful comments. It should preferably be individualized, easily accessible and not offered as therapy but rather as tutoring for children.PMID:38692157 | DOI:10.1016/j.ejpn.2024.04.006 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - May 1, 2024 Category: Neurology Authors: Jildou N Dijkstra Nathani ël B Rasing Helena T M Boon Sandra Altena-Rensen Edith H C Cup Anke Lanser Ietske J Siemann Baziel G van Engelen Corrie E Erasmus Nicol C Voermans Source Type: research

Corrigendum to "Autoantibody status, neuroradiological and clinical findings in children with acute cerebellitis" [Eur. J. Paediatr. Neurol. 47 (2023) 118-130]
Eur J Paediatr Neurol. 2024 Apr 30:S1090-3798(24)00056-4. doi: 10.1016/j.ejpn.2024.04.010. Online ahead of print.NO ABSTRACTPMID:38692980 | DOI:10.1016/j.ejpn.2024.04.010 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - May 1, 2024 Category: Neurology Authors: L Quack S Glatter A Wegener-Panzer R Cleaveland A Bertolini V Endmayr R Seidl M Breu E Wendel M Schimmel M Baumann M Rauchenzauner M Pritsch N Boy T Muralter G Kluger C Makoswski V Kraus S Leiz C Loehr-Nilles J H Kreth S Braig S Schilling J Kern C Blank B Source Type: research

Quality of life and support needs in children, adolescents, and young adults with facioscapulohumeral dystrophy, a mixed-method study
DISCUSSION: Quality of life in childhood FSHD is diminished caused by their physical limitations, altered appearance, fear of social rejection, and uncertainty of the disease progression in the future. A fear of social rejection most likely contributes to striving for normality regardless of physical discomfort. Support should be focused on acceptance and coping with hurtful comments. It should preferably be individualized, easily accessible and not offered as therapy but rather as tutoring for children.PMID:38692157 | DOI:10.1016/j.ejpn.2024.04.006 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - May 1, 2024 Category: Neurology Authors: Jildou N Dijkstra Nathani ël B Rasing Helena T M Boon Sandra Altena-Rensen Edith H C Cup Anke Lanser Ietske J Siemann Baziel G van Engelen Corrie E Erasmus Nicol C Voermans Source Type: research

Corrigendum to "Autoantibody status, neuroradiological and clinical findings in children with acute cerebellitis" [Eur. J. Paediatr. Neurol. 47 (2023) 118-130]
Eur J Paediatr Neurol. 2024 Apr 30:S1090-3798(24)00056-4. doi: 10.1016/j.ejpn.2024.04.010. Online ahead of print.NO ABSTRACTPMID:38692980 | DOI:10.1016/j.ejpn.2024.04.010 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - May 1, 2024 Category: Neurology Authors: L Quack S Glatter A Wegener-Panzer R Cleaveland A Bertolini V Endmayr R Seidl M Breu E Wendel M Schimmel M Baumann M Rauchenzauner M Pritsch N Boy T Muralter G Kluger C Makoswski V Kraus S Leiz C Loehr-Nilles J H Kreth S Braig S Schilling J Kern C Blank B Source Type: research

Efficacy and safety of N-acetyl-L-leucine in patients with ataxia telangiectasia: A randomized, double-blind, placebo-controlled, crossover clinical trial
CONCLUSIONS: To the best of our knowledge, this was the first placebo-controlled, randomized clinical trial exploring NALL's potential effects for treating AT. Despite improvements in some symptomss, NALL intervention failed to improve motor function significantly. However, patients' nausea and constipation were improved by NALL, which can be a relevant benefit clinically.PMID:38669738 | DOI:10.1016/j.ejpn.2024.04.009 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - April 26, 2024 Category: Neurology Authors: Mehran Beyraghi-Tousi Amirhosein Sahebkar Mahsa Houra Pooria Sarvghadi Tannaz Jamialahmadi Reza Bagheri Shima Tavallaie Eric Gumpricht Maryam Saberi-Karimian Source Type: research

Efficacy and safety of N-acetyl-L-leucine in patients with ataxia telangiectasia: A randomized, double-blind, placebo-controlled, crossover clinical trial
CONCLUSIONS: To the best of our knowledge, this was the first placebo-controlled, randomized clinical trial exploring NALL's potential effects for treating AT. Despite improvements in some symptomss, NALL intervention failed to improve motor function significantly. However, patients' nausea and constipation were improved by NALL, which can be a relevant benefit clinically.PMID:38669738 | DOI:10.1016/j.ejpn.2024.04.009 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - April 26, 2024 Category: Neurology Authors: Mehran Beyraghi-Tousi Amirhosein Sahebkar Mahsa Houra Pooria Sarvghadi Tannaz Jamialahmadi Reza Bagheri Shima Tavallaie Eric Gumpricht Maryam Saberi-Karimian Source Type: research

Efficacy and safety of N-acetyl-L-leucine in patients with ataxia telangiectasia: A randomized, double-blind, placebo-controlled, crossover clinical trial
CONCLUSIONS: To the best of our knowledge, this was the first placebo-controlled, randomized clinical trial exploring NALL's potential effects for treating AT. Despite improvements in some symptomss, NALL intervention failed to improve motor function significantly. However, patients' nausea and constipation were improved by NALL, which can be a relevant benefit clinically.PMID:38669738 | DOI:10.1016/j.ejpn.2024.04.009 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - April 26, 2024 Category: Neurology Authors: Mehran Beyraghi-Tousi Amirhosein Sahebkar Mahsa Houra Pooria Sarvghadi Tannaz Jamialahmadi Reza Bagheri Shima Tavallaie Eric Gumpricht Maryam Saberi-Karimian Source Type: research

Efficacy and safety of N-acetyl-L-leucine in patients with ataxia telangiectasia: A randomized, double-blind, placebo-controlled, crossover clinical trial
CONCLUSIONS: To the best of our knowledge, this was the first placebo-controlled, randomized clinical trial exploring NALL's potential effects for treating AT. Despite improvements in some symptomss, NALL intervention failed to improve motor function significantly. However, patients' nausea and constipation were improved by NALL, which can be a relevant benefit clinically.PMID:38669738 | DOI:10.1016/j.ejpn.2024.04.009 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - April 26, 2024 Category: Neurology Authors: Mehran Beyraghi-Tousi Amirhosein Sahebkar Mahsa Houra Pooria Sarvghadi Tannaz Jamialahmadi Reza Bagheri Shima Tavallaie Eric Gumpricht Maryam Saberi-Karimian Source Type: research

Efficacy and safety of N-acetyl-L-leucine in patients with ataxia telangiectasia: A randomized, double-blind, placebo-controlled, crossover clinical trial
CONCLUSIONS: To the best of our knowledge, this was the first placebo-controlled, randomized clinical trial exploring NALL's potential effects for treating AT. Despite improvements in some symptomss, NALL intervention failed to improve motor function significantly. However, patients' nausea and constipation were improved by NALL, which can be a relevant benefit clinically.PMID:38669738 | DOI:10.1016/j.ejpn.2024.04.009 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - April 26, 2024 Category: Neurology Authors: Mehran Beyraghi-Tousi Amirhosein Sahebkar Mahsa Houra Pooria Sarvghadi Tannaz Jamialahmadi Reza Bagheri Shima Tavallaie Eric Gumpricht Maryam Saberi-Karimian Source Type: research

Frequency of an intrathecal IgM synthesis and MRZ reaction in children with MS
CONCLUSION: An intrathecal IgM synthesis and a positive MRZR are found in a subset of MS children but are not associated with markers associated with a poor prognosis.PMID:38636242 | DOI:10.1016/j.ejpn.2024.04.005 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - April 18, 2024 Category: Neurology Authors: S Chen Bertolini A G Koukou E M Wendel C Thiels M Baumann C Lechner A Blaschek A Della Marina G Classen B St üve B Kauffmann T Kapanci B Mayer M Otto K Rost ásy Source Type: research

Frequency of an intrathecal IgM synthesis and MRZ reaction in children with MS
CONCLUSION: An intrathecal IgM synthesis and a positive MRZR are found in a subset of MS children but are not associated with markers associated with a poor prognosis.PMID:38636242 | DOI:10.1016/j.ejpn.2024.04.005 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - April 18, 2024 Category: Neurology Authors: S Chen Bertolini A G Koukou E M Wendel C Thiels M Baumann C Lechner A Blaschek A Della Marina G Classen B St üve B Kauffmann T Kapanci B Mayer M Otto K Rost ásy Source Type: research

Frequency of an intrathecal IgM synthesis and MRZ reaction in children with MS
CONCLUSION: An intrathecal IgM synthesis and a positive MRZR are found in a subset of MS children but are not associated with markers associated with a poor prognosis.PMID:38636242 | DOI:10.1016/j.ejpn.2024.04.005 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - April 18, 2024 Category: Neurology Authors: S Chen Bertolini A G Koukou E M Wendel C Thiels M Baumann C Lechner A Blaschek A Della Marina G Classen B St üve B Kauffmann T Kapanci B Mayer M Otto K Rost ásy Source Type: research

The relationship between manual ability, dystonia and choreoathetosis severity and upper limb movement patterns during reaching and grasping in children and young adults with dyskinetic cerebral palsy
CONCLUSION: Current novel analysis of upper limb movement patterns and respective timings allows to detect joint angles and periods in the movement cycle wherein associations with clinical parameters occur. These associations are not present at each joint level, nor during the full movement cycle. This knowledge should be considered for individualized treatment strategies.PMID:38614013 | DOI:10.1016/j.ejpn.2024.04.001 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - April 13, 2024 Category: Neurology Authors: Inti Vanmechelen Helga Haberfehlner Brian H M Martens R Jeroen Vermeulen Annemieke I Buizer Kaat Desloovere Jean-Marie Aerts Hilde Feys Elegast Monbaliu Source Type: research