European Journal of Paediatric Neurology最新文献

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. This study included eleven patients. Clinical characteristics, laboratory test results, imaging features, and treatment options were analysed.

Results

Eight of the 19 cases (42 %) died, one (5 %) recovered, and nine (47 %) improved with residual neurological dysfunction. Eighteen patients presented with fever, with 56 % having ≥40 °C. Twelve patients (63 %) presented with dysfunction consciousness. Eight (42 %) patients experienced frequent convulsions. All eight patients in our hospital had elevated procalcitonin levels (mean: 21.32 ng/mL, range: 0.10–89.40 ng/mL). Alanine aminotransferase levels were elevated (mean: 632.81 U/L, range: 13.00–2251.00 U/L) in six patients. Seven patients showed elevated uric acid levels(mean: 396.50 μmol/L, range: 157.00–660.00 μmol/L). Brain imaging indicated that all the patients had symmetrical injuries to the bilateral thalami, accompanied by symmetrical injuries in the cerebrum, cerebellum, basal ganglia, and brain stem. Compared with the classical treatment (n = 9), the combination with tocilizumab (n = 6) showed a statistically difference in mortality (p = 0.028 < 0.05).

Conclusion

The typical clinical manifestations of ANE in children with SARS-CoV-2 infection are acute onset with high fever, frequent convulsions and rapidly worsening disturbance of consciousness. Tocilizumab treatment could reduces mortality in ANE.

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 7.2 years. Median age at onset was 9y (IQR 9.5–14.5, 126 females). At last follow-up, 46 (18 %) had MS, 4 AQP4-Ab NMOSD and 206 (80 %) had other ADS, of which 27 (13 %) relapsed. Relapsing MOGAD was the diagnosis in 12/27, 6 were seronegative and 9 did not have antibodies tested. Frequency of relapse differed according to first presentation in non-MS ADS, being least likely in transverse myelitis (p = 0.025). In the non-MS group, MOG-Ab was predictive of relapse (HR = 8.42; p < 0.001) occurring 8 times as often decreasing over time. Long-term difficulties did not differ between children with monophasic vs relapsing diseases.

Conclusion

The risk of relapse in non-MS ADS depends on initial diagnosis, and MOG-Ab positivity. Long-term difficulties are observed regardless of relapses and are determined by presenting phenotype.

Duchenne Muscular Dystrophy (DMD) is an X-linked recessive disorder caused by mutations in the dystrophin gene. Deficiency of the dystrophin protein causes not only motor, but also cognitive, language, behavioural and social emotional problems. This is the first systematic review investigating five early developmental domains in boys with DMD between 0 and 6 years old. Interactions between different domains and links with mutation types and sites were explored.

A systematic search was performed in PubMed, Web of Science and Scopus. An adapted version of the Scottish Intercollegiate Guidelines Network (SIGN) Checklists for case-control and cohort studies was used to evaluate quality.

Fifty-five studies of high or acceptable quality were included. One was an RCT of level 1b; 50 were cohort studies of level 2b; and four were an aggregation of case-control and cohort studies receiving levels 2b and 3b. We found that young boys with DMD experienced problems in all five developmental domains, with significant interactions between these. Several studies also showed relationships between mutation sites and outcomes.

We conclude that DMD is not only characterised by motor problems but by a more global developmental delay with a large variability between boys. Our results emphasise the need for harmonisation in evaluation and follow-up of young boys with DMD. More high-quality research is needed on the different early developmental domains in young DMD to facilitate early detection of difficulties and identification of associated early intervention strategies.

Background

NKX2-1-related disorder (NKX2-1-RD) is a rare disease characterized by a triad of primary hypothyroidism, neonatal respiratory distress, and neurological features, including chorea.

Objective

This study aimed to identify discrepancies in the management of NKX2-1-RD among European Union (EU) specialists.

Methods

The ERN-RND Chorea & Huntington disease group designed a survey to conduct a cross-sectional multicenter study on the management of NKX2-1-RD. Descriptive analysis was performed, and total responses are presented for each item.

Results

The study involved 23 experts from 13 EU countries with experience in evaluating hyperkinetic patients with NKX2-1-RD: 11 were adult specialists, and 12 were pediatric specialists. NKX2-1-RD diagnosis was made at different ages, with the most common initial symptoms being hypotonia and/or motor developmental delay (reported by 11 experts) and chorea (reported by 8 experts). Chorea involved various body parts and showed improvement as reported by 9 experts, stabilization by 12 experts, and worsening by 2 experts with age. The pharmacological treatment of chorea varied widely among the experts. Misdiagnosis was reported by 14 experts. NKX2-1 pathogenic variants or deletions were confirmed in >75 % of patients (reported by 12 experts). Pulmonary and endocrinology evaluations were requested by 7 and 12 experts, respectively. The management of psychiatric comorbidities also varied among the different experts.

Conclusions

This study highlights the need for a clinical practice guideline for the management of NKX2-1-RD to ensure that patients across the EU receive consistent and appropriate care. Such a guideline would benefit both doctors and healthcare practitioners.

Background

The internet has become an integral part of daily life, impacting various aspects, especially among children and adolescents. Internet overuse has been associated with numerous physical and mental health issues. Despite its significant implications, there is no universally accepted assessment tool for internet addiction. This study focuses on validating the Georgian version of the Internet Addiction Test (IAT) among pediatric patients aged 9 to 17, specifically the Internet Addiction Test - Adolescence (IAT – A).

Methods

The study, conducted in 2022–2023, involved pediatric patients from Givi Zhvania Pediatric Academic Clinic, generally healthy but with parental concerns about screen time. The IAT-A, a self-administered questionnaire, was adapted for cultural relevance. Translation-back-translation was employed for linguistic validation. Data was collected twice, with a 6-month interval. Statistical analyses included the Kappa coefficient, Kendall's tau test, paired t-test, and Bland-Altman plots.

Results

The translation process ensured linguistic accuracy and cultural relevance. The study included 100 participants (59 % boys, 41 % girls) with a mean age of 12 years. The mean IAT - A score remained consistently high over both testing periods. Kendall's tau correlation coefficient indicated a strong correlation (0.97), and Bland-Altman plots confirmed repeatability. The cut-off of 40 points identified 84 % as problematic internet users. Individual question analysis showed strong correlation and agreement.

Conclusion

The Georgian version of the IAT - A demonstrated reliability and consistency in assessing internet addiction among pediatric patients. The prevalence of problematic internet use among children referred to a university hospital because parents were worried about their internet use was indeed high. The study contributes valuable insights into internet addiction research in Georgia and underscores the importance of a standardized assessment tool. The repeatability of the scores of each question was strong among both groups of problematic internet users and non-problematic internet users, confirming that the Georgian version of IAT – A has high level of accuracy and can be used in internet addiction research.