European Journal of Paediatric Neurology最新文献

{"title":"Understanding the scale of the problem: How to standardise the measurement of childhood movement disorders?","authors":"Daniel E. Lumsden","doi":"10.1016/j.ejpn.2024.08.008","DOIUrl":"10.1016/j.ejpn.2024.08.008","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"53 ","pages":"Page 48"},"PeriodicalIF":2.3,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142315694","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Outcomes for patients in the RESTORE registry with spinal muscular atrophy and four or more SMN2 gene copies treated with onasemnogene abeparvovec","authors":"Eduardo F. Tizzano ,&nbsp;Susana Quijano-Roy ,&nbsp;Laurent Servais ,&nbsp;Julie A. Parsons ,&nbsp;Sharon Aharoni ,&nbsp;Arpita Lakhotia ,&nbsp;Richard S. Finkel","doi":"10.1016/j.ejpn.2024.08.006","DOIUrl":"10.1016/j.ejpn.2024.08.006","url":null,"abstract":"<div><h3>Objective</h3><p>We describe outcomes following onasemnogene abeparvovec monotherapy for patients with ≥four <em>survival motor neuron 2</em> (<em>SMN2</em>) gene copies in RESTORE, a noninterventional spinal muscular atrophy patient registry.</p></div><div><h3>Methods</h3><p>We evaluated baseline characteristics, motor milestone achievement, post-treatment motor function, use of ventilatory/nutritional support, and adverse events as of December 22, 2022.</p></div><div><h3>Results</h3><p>At data cutoff, 19 patients in RESTORE had ≥four <em>SMN2</em> copies and were treated with onasemnogene abeparvovec monotherapy (n=12 [63.2%] four copies; n=7 [36.8%] &gt;four copies). All patients were identified by newborn screening and were reported as asymptomatic at diagnosis. Median age at onasemnogene abeparvovec administration was 3.0 months. Median time from treatment to last recorded visit was 15.4 months, with a range of post-treatment follow-up of 0.03–39.4 months. All 12 children who were assessed for motor development achieved new milestones, including standing alone (n=2) and walking alone (n=5). Five children reported one or more treatment-emergent adverse events (one Grade 3 or greater). No deaths or use of ventilatory/nutritional support were reported.</p></div><div><h3>Conclusions</h3><p>Real-world findings from the RESTORE registry indicate that patients with ≥four <em>SMN2</em> gene copies treated with onasemnogene abeparvovec monotherapy demonstrated improvements in motor function. Adverse events experienced by these patients were consistent with previously reported findings.</p></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"53 ","pages":"Pages 18-24"},"PeriodicalIF":2.3,"publicationDate":"2024-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1090379824001272/pdfft?md5=74c47887fa6805a28addefb81c3220a4&pid=1-s2.0-S1090379824001272-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142164534","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploring the correlation between paediatric narcolepsy and serum neurofilament light chain levels: An exploratory study","authors":"Weifeng Li ,&nbsp;Meijun Sun ,&nbsp;Chen Chen","doi":"10.1016/j.ejpn.2024.08.005","DOIUrl":"10.1016/j.ejpn.2024.08.005","url":null,"abstract":"<div><h3>Background</h3><p>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.</p></div><div><h3>Methods</h3><p>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. Severity of EDS in patients was measured with the Epworth Sleepiness Scale (ESS). Moreover, the Pittsburgh Sleep Quality Index (PSQI), Hamilton Depression Rating Scale-24 (HAMD-24), and Hamilton Anxiety Scale-14 (HAMA-14) were used to assess narcolepsy symptoms, sleep quality, and psychological conditions.</p></div><div><h3>Results</h3><p>Patients with paediatric narcolepsy had significantly higher serum NfL levels than controls (P &lt; 0.05). Additionally, a positive correlation was found between serum NfL levels and ESS scores (P &lt; 0.001). An independent link between serum NfL and paediatric narcolepsy was established via multiple logistic regression (OR = 0.943, 95 % CI = 0.921–0.993, P = 0.004). Moreover, serum NfL's diagnostic precision for paediatric narcolepsy was evident from the ROC curve area of 0.938 (95 % CI: 0.86–0.99, P &lt; 0.001).</p></div><div><h3>Conclusion</h3><p>The study implies a positive correlation between increased serum NfL levels and the severity of paediatric narcolepsy. Nevertheless, the causative link between serum NfL levels and paediatric narcolepsy remains uncertain, highlighting the need for larger sample sizes and well-structured cohort studies to offer more definitive.</p></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"52 ","pages":"Pages 82-85"},"PeriodicalIF":2.3,"publicationDate":"2024-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142037603","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cognitive and emotional-behavioural outcomes of Turkish Duchenne muscular dystrophy population and its association with motor function","authors":"Esra Aldırmaz,&nbsp;Numan Bulut,&nbsp;Öznur Yılmaz,&nbsp;İpek Alemdaroğlu-Gürbüz","doi":"10.1016/j.ejpn.2024.08.004","DOIUrl":"10.1016/j.ejpn.2024.08.004","url":null,"abstract":"<div><h3>Purpose</h3><p>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.</p></div><div><h3>Method</h3><p>Children aged 7–16 years with DMD (n = 68) and age-matched typically developing children (n = 33) were included in the study. The cognitive and emotional-behavioural status and the motor functions were assessed in detail. Children with DMD also divided into two groups as “proximal” and “distal” site mutation groups to compare the cognitive and emotional-behavioural outcomes.</p></div><div><h3>Results</h3><p>The children with DMD and typically developing children were similar in terms of age and body mass index (p &gt; 0.05). Significant differences were found between children with DMD and typically developing peers in almost all subtests of both cognitive and emotional-behavioural assessments (p &lt; 0.05). Cognitive and emotional-behavioural parameters were weakly correlated with specific motor parameters responsive to cognitive functioning (p &lt; 0.05). Children with distal site mutation performed significantly worser than those with proximal site mutation in particular cognitive subtest (p &lt; 0.05).</p></div><div><h3>Conclusions</h3><p>It is concluded that comprehensive and detailed evaluation of cognitive and emotional-behavioural features of children with DMD is essential for better implementation of rehabilitation programs to maintain motor function which especially requires cognitive ability, since a Turkish cohort represented challenges in particular domains of cognitive and emotional-behavioural areas.</p></div><div><h3>Clinical trial registration number</h3><p>NCT05661071.</p></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"52 ","pages":"Pages 86-94"},"PeriodicalIF":2.3,"publicationDate":"2024-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142049791","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"CSF-profile and hypocretin levels in children with narcolepsy type 1 and 2","authors":"Maike Josler ,&nbsp;Ines El Naggar ,&nbsp;Annikki Bertolini ,&nbsp;Patrizia Kutz ,&nbsp;Claudia Roll ,&nbsp;Eva-Maria Wendel ,&nbsp;Bernhard Schlüter ,&nbsp;Andreas Hahn ,&nbsp;Sandy Siegert ,&nbsp;Anette Hackenberg ,&nbsp;Sameer M. Zuberi ,&nbsp;Markus Otto ,&nbsp;Kevin Rostásy","doi":"10.1016/j.ejpn.2024.08.003","DOIUrl":"10.1016/j.ejpn.2024.08.003","url":null,"abstract":"<div><h3>Background</h3><p>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.</p></div><div><h3>Objectives</h3><p>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.</p></div><div><h3>Methods</h3><p>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. CSF was analyzed for the presence of cells, total protein, lactate, intrathecal synthesis of antibodies against measles, rubella and/or varicella zoster, and oligoclonal bands. All children had a complete sleep study including a multiple sleep latency test (MSLT).</p></div><div><h3>Results</h3><p>49 children with narcolepsy type 1, 15 children with type 2 and 37 children with other (suspected) neurological diseases were included. CSF routine analysis did not reveal any differences between the three groups. All children with narcolepsy type 1 had hypocretin levels of less than 110 pg/ml (range: 10–101 pg/ml). Hypocretin levels in type 2 patients ranged from 43 to 436 pg/ml (median 157 pg/ml). The median hypocretin level in the control cohort was 365 pg/ml (range: 153–583 pg/ml). In 4 children with narcolepsy type 2 the diagnosis was changed to narcolepsy level 1 because of a CSF hypocretin level of less than 110 pg/ml according to the recently proposed criteria, which consider the measurement of hypocretin in CSF.</p></div><div><h3>Conclusion</h3><p>Children with narcolepsy type 1 showed significantly lower CSF hypocretin levels than children with narcolepsy type 2 and controls. As suggested by the recently published narcolepsy criteria, hypocretin levels of less than 110 pg/ml should be used as an additional criterion for the presence of narcolepsy type 1 in children.</p></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"53 ","pages":"Pages 1-7"},"PeriodicalIF":2.3,"publicationDate":"2024-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142122913","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effects of cycling training on balance and gait in children with Duchenne muscular dystrophy: A randomized controlled study","authors":"Numan Bulut ,&nbsp;Ali İmran Yalçın ,&nbsp;Semra Topuz ,&nbsp;İpek Gürbüz ,&nbsp;Öznur Yılmaz ,&nbsp;Ayşe Karaduman","doi":"10.1016/j.ejpn.2024.08.001","DOIUrl":"10.1016/j.ejpn.2024.08.001","url":null,"abstract":"<div><h3>Background and aims</h3><p>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.</p></div><div><h3>Methods</h3><p>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). Gait and balance parameters were evaluated using the GAITRite electronic walkway system and the Bertec Balance Check Screener™, respectively. Assessments were applied before and after 12 weeks of training.</p></div><div><h3>Results</h3><p>The mean ages of the children in the study and control groups were 8.20 (SD:1.34) and 8.86 (SD:1.30) years, consecutively (p &gt; 0.05). Considering the baseline values, the balance and spatio-temporal gait parameters of the children were similar except for the antero-posterior postural sway on the perturbed surface with eyes open (p &gt; 0.05). There was a significant time x group interaction effect in favor of the study group for the antero-posterior postural sway of children on the normal surface with eyes open (<em>F</em> (1,58) = 12.62, p = 0.002). It was found that the antero-posterior postural sway on the normal surface with eyes open was improved in the study group within group comparison (<em>F</em> (1,10) = 8.50, p = 0.015).</p></div><div><h3>Conclusions</h3><p>The study showed that both the cycling and the home-based exercise training groups may maintain gait and balance parameters during the study. Adding a cycling training to the rehabilitation program can also provide additional contribution to improve antero-posterior balance.</p></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"52 ","pages":"Pages 76-81"},"PeriodicalIF":2.3,"publicationDate":"2024-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141990499","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Age-appropriate or delayed myelination? Scoring myelination in routine clinical MRI","authors":"Inga Harting ,&nbsp;Sven F. Garbade ,&nbsp;Stefan D. Roosendaal ,&nbsp;Hannah Fels-Palesandro ,&nbsp;Clara Raudonat ,&nbsp;Alexander Mohr ,&nbsp;Nicole I. Wolf","doi":"10.1016/j.ejpn.2024.07.010","DOIUrl":"10.1016/j.ejpn.2024.07.010","url":null,"abstract":"<div><h3>Background</h3><p>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.</p></div><div><h3>Methods</h3><p>Myelination was scored in 13 anatomic sites (items) on conventional T2w and T1w images in controls (n = 253, 0–2 years). Items for the score were selected based on inter-rater variability, practicability of scoring, and importance for correctly identifying validation scans.</p></div><div><h3>Results</h3><p>The resulting myelination score consisting of 7 T2- and 5 T1-items delineated myelination from term-equivalent to advanced, incomplete myelination which 50 % and 99 % of controls had reached by 19.1 and 32.7 months, respectively. It correctly identified 20/20 new control MRIs and 40/43 with myelination delay, missing one patient with borderline myelination delay at 8.6 months and 2 patients with incomplete T2-myelination of subcortical temporopolar white matter at 28 and 34 months.</p></div><div><h3>Conclusions</h3><p>The proposed myelination score provides an easy to use, standardized, and versatile tool to delineate myelination normally occurring during the first 1.5 years of life.</p></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"52 ","pages":"Pages 59-66"},"PeriodicalIF":2.3,"publicationDate":"2024-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1090379824001211/pdfft?md5=238fec73a18a11d8cfe142571e53ec99&pid=1-s2.0-S1090379824001211-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141853469","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acute necrotizing encephalopathy infected with the SARS-CoV-2 in children: Case series and literature review of clinical outcomes with the use of Tocilizumab","authors":"Yingge Ma,&nbsp;Lin Liu,&nbsp;Fang Chen,&nbsp;Wenjuan Zhan,&nbsp;Mingyue Li,&nbsp;Yufei Su","doi":"10.1016/j.ejpn.2024.07.009","DOIUrl":"10.1016/j.ejpn.2024.07.009","url":null,"abstract":"<div><h3>Background and objective</h3><p>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.</p></div><div><h3>Methods</h3><p>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.</p></div><div><h3>Results</h3><p>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 (<em>p</em> = 0.028 &lt; 0.05).</p></div><div><h3>Conclusion</h3><p>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.</p></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"52 ","pages":"Pages 67-75"},"PeriodicalIF":2.3,"publicationDate":"2024-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141844273","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Long term outcome in non-multiple sclerosis paediatric acquired demyelinating syndromes","authors":"Evangeline Wassmer ,&nbsp;Charly Billaud ,&nbsp;Michael Absoud ,&nbsp;Omar Abdel-Mannan ,&nbsp;Christina Benetou ,&nbsp;Carole Cummins ,&nbsp;Katharine Forrest ,&nbsp;Christian De Goede ,&nbsp;Noha Eltantawi ,&nbsp;Helga Hickson ,&nbsp;Nahin Hussain ,&nbsp;Phil Jardine ,&nbsp;John H. livingston ,&nbsp;Santosh Mordekar ,&nbsp;Sithara Ramdas ,&nbsp;Micheal Taylor ,&nbsp;K. Vijayakumar ,&nbsp;Siobhan West ,&nbsp;William P. Whitehouse ,&nbsp;Rachel Kneen ,&nbsp;Sukhvir Wright","doi":"10.1016/j.ejpn.2024.07.002","DOIUrl":"10.1016/j.ejpn.2024.07.002","url":null,"abstract":"<div><h3>Objectives</h3><p>We aimed to study the risks of relapse and long term disability in children with non-MS acquired demyelinating syndromes (ADS).</p></div><div><h3>Methods</h3><p>In this prospective, multi-centre study, from the 14 UK pediatric neurology centres, children (&lt;16 years) experiencing a first episode of ADS were recruited from 2010 to 2014. Case report forms were collected prospectively.</p></div><div><h3>Results</h3><p>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 &lt; 0.001) occurring 8 times as often decreasing over time. Long-term difficulties did not differ between children with monophasic vs relapsing diseases.</p></div><div><h3>Conclusion</h3><p>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.</p></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"52 ","pages":"Pages 52-58"},"PeriodicalIF":2.3,"publicationDate":"2024-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141639029","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Early motor, cognitive, language, behavioural and social emotional development in infants and young boys with Duchenne Muscular Dystrophy- A systematic review","authors":"Jasmine Hoskens ,&nbsp;Silke Paulussen ,&nbsp;Nathalie Goemans ,&nbsp;Hilde Feys ,&nbsp;Liesbeth De Waele ,&nbsp;Katrijn Klingels","doi":"10.1016/j.ejpn.2024.07.003","DOIUrl":"https://doi.org/10.1016/j.ejpn.2024.07.003","url":null,"abstract":"<div><p>Duchenne Muscular Dystrophy (DMD) is an X-linked recessive disorder caused by mutations in the <em>dystrophin</em> 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.</p><p>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.</p><p>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.</p><p>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.</p></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"52 ","pages":"Pages 29-51"},"PeriodicalIF":2.3,"publicationDate":"2024-07-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141606139","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}