European Journal of Paediatric Neurology : EJPN

No abstract text is available yet for this article.

No abstract text is available yet for this article.

No abstract text is available yet for this article.

Paediatric acquired demyelinating syndromes (pADS) attack white matter pathways in the brain during an important period of development. Affected children can experience poor functional outcomes, including deficits in specific cognitive domains. Understanding risk factors for poor outcome will guide clinical management of these children. One clinical phenotype which may differentially impact cognitive outcomes is the presence of autoantibodies to myelin oligodendrocyte glycoprotein (MOG). Preliminary research has suggested that cognitive difficulties exist in paediatric patients who test positive for MOG antibodies or MOGAD (Myelin Oligodendrocyte Glycoprotein Associated Disease) however, they experience a less severe profile compared to seronegative counterparts...

Neuromuscular diseases impact on children's health related quality of life but there is a lack of studies in Latin America that measured this construct. To respond to this need, this study aimed to explore quality of life and its relationship with age, functional dependence and specific diagnosis in children and adolescents in Latin America. A cross-sectional correlation study was carried out with 133 caregivers on children (2-18 years old) with various neuromuscular disorders. Parents reported on their children's health related quality of life through the PedsQL GCS and the PedsQL NMM...

No abstract text is available yet for this article.

OBJECTIVE: We describe outcomes following onasemnogene abeparvovec monotherapy for patients with ≥four survival motor neuron 2 (SMN2) gene copies in RESTORE, a noninterventional spinal muscular atrophy patient registry. METHODS: We evaluated baseline characteristics, motor milestone achievement, post-treatment motor function, use of ventilatory/nutritional support, and adverse events as of December 22, 2022. RESULTS: At data cutoff, 19 patients in RESTORE had ≥four SMN2 copies and were treated with onasemnogene abeparvovec monotherapy (n=12 [63...

Sydenham's chorea (SC), an autoimmune disorder affecting the central nervous system, is a pivotal diagnostic criterion for acute rheumatic fever. Primarily prevalent in childhood, especially in developing countries, SC manifests with involuntary movements and neuropsychiatric symptoms. Predominantly occurring between ages 5 and 15, with a female bias, SC may recur, particularly during pregnancy or estrogen use. The autoimmune response affecting the basal ganglia, notably against dopamine, underlies the pathophysiology...

BACKGROUND: The study seeks to assess serum neurofilament light chain (NfL) levels in paediatric narcolepsy-diagnosed patients. Moreover, it aims to explore the correlation between NfL levels and the severity of narcolepsy symptoms, sleep quality, and manifestations of anxiety and depression. METHODS: This retrospective analysis included 98 paediatric narcolepsy cases and 100 controls matched for age and gender. The study focused on comparing serum NfL levels across these groups...

PURPOSE: The aim of this study was to examine the cognitive and emotional-behavioural outcomes of Turkish children with Duchenne muscular dystrophy (DMD) in comparison with healthy peers, to determine its relationship with motor functions, and to analyse the difference of cognitive and emotional-behavioural outcomes according to the site of mutations. METHOD: Children aged 7-16 years with DMD (n = 68) and age-matched typically developing children (n = 33) were included in the study...

BACKGROUND: Narcolepsy is a rare neurological disease caused by dysfunction of hypocretin-producing neurons. Hypocretin concentrations in the cerebrospinal fluid (CSF) of less than 110 pg/ml are considered pathological in adults. OBJECTIVES: To compare hypocretin levels of children with narcolepsy type 1, type 2 and disease control groups, in addition to a detailed CSF analysis, clinical and polysomnographic parameters. METHODS: In a retrospective, cross-sectional study, children diagnosed with narcolepsy based on clinical and polysomnographic parameters, who received a CSF analysis and hypocretin measurement, in addition to controls, were included...

BACKGROUND AND AIMS: Although aerobic exercises such as cycling and swimming are increasingly being recommended in Duchenne muscular dystrophy (DMD), their effect on gait and balance parameters is unclear. This study was aimed to investigate the effect of cycling training on balance and spatio-temporal gait parameters in children with DMD. METHODS: Ambulant children (age range: 6.17-11.33 years) were randomly divided into two groups: home-based exercise training applied in the control group (n = 12) while 12 weeks of supervised submaximal lower extremity cycling training in addition to home-based exercise training performed in the study group (n = 11)...

BACKGROUND: Assessment of myelination is a core issue in paediatric neuroimaging and can be challenging, particularly in settings without dedicated paediatric neuroradiologists. Deep learning models have recently been shown to be able to estimate myelination age in children with normal MRI, but currently lack validation for patients with myelination delay and implementation including pre-processing suitable for local imaging is not trivial. Standardized myelination scores, which have been successfully used as biomarkers for myelination in hypomyelinating diseases, rely on visual, semiquantitative scoring of myelination on routine clinical MRI and may offer an easy-to-use alternative for assessment of myelination...

BACKGROUND AND OBJECTIVE: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) causes acute necrotizing encephalopathy (ANE), which has a high mortality rate and severe sequelae. This study aimed to identify ANE early and evaluate the usefulness of tocilizumab in ANE treatment. METHODS: We retrospectively included eight paeefediatric ANE cases infected with SARS-CoV-2 at Xi'an Children's Hospital, China, from December 1, 2022 to May 1, 2023. A literature search was performed using the PUBMED, SPRING, SCOPUS, and EMBASE databases...

OBJECTIVE: This study aimed to examine the reliability and validity of a newly developed questionnaire for Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections (PANDAS) and Pediatric Acute-onset Neuropsychiatric Syndrome (PANS). The aim was to contribute to future standardisation of screening methods for symptoms and comorbidity, as well as the measurement of symptom severity, daily life impairment, and treatment effectiveness in individuals diagnosed with PANDAS/PANS...

No abstract text is available yet for this article.

No abstract text is available yet for this article.

No abstract text is available yet for this article.

No abstract text is available yet for this article.

OBJECTIVES: We aimed to study the risks of relapse and long term disability in children with non-MS acquired demyelinating syndromes (ADS). METHODS: In this prospective, multi-centre study, from the 14 UK pediatric neurology centres, children (<16 years) experiencing a first episode of ADS were recruited from 2010 to 2014. Case report forms were collected prospectively. RESULTS: A total of 269 children were recruited and followed up for a median of 7...