European Journal of Paediatric Neurology最新文献

{"title":"Editorial: Unraveling the complexities of DEE and movement disorders in young children","authors":"Deborah A. Sival, Suus A.M van Noort","doi":"10.1016/j.ejpn.2025.04.010","DOIUrl":"10.1016/j.ejpn.2025.04.010","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Page A2"},"PeriodicalIF":2.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144013450","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":"Pediatric new-onset super-refractory status epilepticus (NOSRSE): a case-series","authors":"Hyungjin Chin ,&nbsp;Soo Yeon Kim ,&nbsp;Byung Chan Lim ,&nbsp;Jong Hee Chae ,&nbsp;Ki Joong Kim ,&nbsp;Jae So Cho ,&nbsp;Anna Cho ,&nbsp;Hunmin Kim ,&nbsp;Woo Joong Kim","doi":"10.1016/j.ejpn.2025.04.008","DOIUrl":"10.1016/j.ejpn.2025.04.008","url":null,"abstract":"<div><h3>Background</h3><div>New-onset super-refractory status epilepticus (NOSRSE) leads to functional deficits and residual epilepsy. This study aimed to describe pediatric NOSRSE cohort to gain clinical insights of their features.</div></div><div><h3>Methods</h3><div>A retrospective review of children with NOSRSE in 2013–2024 was conducted at two tertiary hospitals. Patient clinical data, including MRI, CSF profile, EEG, and treatments, were collected and reviewed. The primary outcome measure was the modified Rankin scale score (mRS) at 3-month post-seizure.</div></div><div><h3>Results</h3><div>Twenty-three patients with NOSRSE, with a median age of 7.9 years, were included. Twenty-one (91 %) had febrile infection-related epilepsy syndrome (FIRES). The initial cerebrospinal fluid (CSF) profile was normal in five (23 %), pleocytosis was present in nine (39 %), and CSF protein was elevated in 15 (68 %) patients. Initial Brain MRI was normal in 14 (61 %) patients. First- and second-line immunotherapy was delivered to 21 (91 %) and 15 (68 %) patients, respectively. The etiology was viral infection in two (9 %) patients, and presumed cryptogenic in the remaining. The primary outcome was poor (mRS ≥4) in 14 (61 %) patients and all had residual epilepsy. Elevated initial CSF protein levels were associated with poor outcomes. Mental status before treatment, time to immunotherapy, intubation of &gt;2 weeks or tracheostomy, and the duration of anesthetics were also associated with the primary outcome.</div></div><div><h3>Conclusion</h3><div>Most pediatric NOSRSE patients presented as cryptogenic FIRES, with poor long-term outcomes. None of the patients with NOSRSE tested positive for autoimmune antibodies. Many showed permanent MRI changes but did not correlate with outcome. The initial CSF profile may serve as an objective disease severity marker in NOSRSE.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 67-73"},"PeriodicalIF":2.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143899154","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":"Quality of life in young adolescents with epilepsy: A case control study","authors":"J. Idowu ,&nbsp;C. Meades ,&nbsp;J.H. Cross ,&nbsp;A. Muggeridge ,&nbsp;M. Lakhanpaul ,&nbsp;K. Robinson ,&nbsp;L.B. Sherar ,&nbsp;N. Pearson ,&nbsp;C. Reilly","doi":"10.1016/j.ejpn.2025.05.005","DOIUrl":"10.1016/j.ejpn.2025.05.005","url":null,"abstract":"<div><h3>Rationale</h3><div>There is limited data comparing quality of life (QOL) in young adolescents with epilepsy with young adolescents without epilepsy. This study aimed to compare self and caregiver rated child quality of life in young adolescents with epilepsy and a matched control group without epilepsy, and to explore factors associated with quality of life in young adolescents with epilepsy.</div></div><div><h3>Method</h3><div>Young adolescents with epilepsy (aged between 11 and 15 years) (n = 60; 25/35 boys/girls), a group of matched controls (n = 49 25/24; boys/girls), and their primary caregivers completed a measure of the child's quality of life (Pediatric Quality of Life Inventory; PedsQL). Comparisons between the epilepsy and control group were undertaken using chi-square analysis and independent t-tests. Linear regression was used to explore factors associated with quality of life in the adolescents with epilepsy. An alpha level of p &lt; 0.05 was used.</div></div><div><h3>Results</h3><div>Adolescents with epilepsy had significantly lower scores on all QoL domains, summary scores and total score of the self-rated PedsQL (all p &lt; 0.001 with exception of physical functioning (p = 0.003)). Adolescents with epilepsy also had significantly lower caregiver rated total QOL with lower scores on all of the PedsQL domains, summary scores, and on the total score (all p &lt; 0.001). Increased adolescent mental health difficulties, increased adolescent motor coordination difficulties, and having had seizures in the week prior to the assessment were associated with reduced quality of life scores on both adolescents and caregiver rated quality of life in the adolescents with epilepsy.</div></div><div><h3>Conclusion</h3><div>Young adolescents with epilepsy have lower QOL on both self- and caregiver report compared to peers without epilepsy. The association with mental health and motor coordination difficulties highlights the need for identification and management of these co-occurring conditions. It is important that resources for identification and management of these difficulties are available in epilepsy clinics to optimise QoL for these adolescents.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 115-120"},"PeriodicalIF":2.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143941399","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":"Comprehensive genetic diagnosis and therapeutic perspectives in 155 children with developmental and epileptic encephalopathy","authors":"R. van Heurck ,&nbsp;E.B. Hammar ,&nbsp;D. Ville ,&nbsp;S. Lebon ,&nbsp;N. Chatron ,&nbsp;C. Marconi ,&nbsp;B. Royer-Bertrand ,&nbsp;G. Lesca ,&nbsp;A. Superti-Furga ,&nbsp;M. Abramowicz ,&nbsp;C. Korff","doi":"10.1016/j.ejpn.2025.04.014","DOIUrl":"10.1016/j.ejpn.2025.04.014","url":null,"abstract":"<div><div>We studied a retrospective cohort of children with developmental and epileptic encephalopathy (DEE), a group of neurological conditions characterized by early onset epilepsy and severe developmental delay. Cases were recruited from three university hospitals based on clinical criteria, after a blinded cross-validation process, and most were subject to both array-CGH and exome-based gene panel analyses. 155 subjects were included. A genetic diagnosis was identified in 105 (68 %). A majority of patients (71 %) had onset of symptoms before the age of one year. In this age group a disease-causing variant was identified in 73 % of children, the highest proportion of cases reported so far. Genetic heterogeneity was high, involving 40 different genes. The most prevalent gene was <em>SCN1A</em>. Eight genes were identified in multiple patients and accounted for 50 % of all diagnoses. The remaining genes represented ultra-rare disorders. In many cases, molecular diagnosis leads to treatment adaptation and allows for genetic counseling. Those results highlight the growing importance of genetic investigations especially in children with symptoms onset before the age of 1. Finally, we evaluated the disease-causing variants in an intention-to-treat approach and found that almost half would theoretically be amenable to personalized therapy using antisense oligonucleotides (ASOs).</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 97-103"},"PeriodicalIF":2.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143923385","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":"Disruptive lesions can cause developmental anomalies in the fetal brain: Mini-review","authors":"Michal Gafner ,&nbsp;Efrat Hadi ,&nbsp;Leila Haddad ,&nbsp;Liat Gindes ,&nbsp;William B Dobyns ,&nbsp;Tally Lerman-Sagie","doi":"10.1016/j.ejpn.2025.05.003","DOIUrl":"10.1016/j.ejpn.2025.05.003","url":null,"abstract":"<div><div>The development of the fetal central nervous system (CNS) is a complex process influenced by genetic, environmental, and physiological factors. The absence of identifiable genetic variants and low risk of recurrence in families with certain brain malformations has led to the hypothesis that disruptive events may play a critical role in the development of brain malformations. These events include disruption of blood flow, ischemia, hemorrhage, placental insufficiency, prenatal drug exposure (e.g cocaine), and infections (e.g CMV). Likely disruptive anomalies include polymicrogyria (PMG), cerebellar hypoplasia, septo-optic dysplasia (SOD), absent septum pellucidum, and Dandy-Walker malformation (DWM). The timing of these disruptions is expected to reflect the stages of fetal brain development. Understanding the mechanisms behind disruptive-developmental anomalies of the fetal CNS is crucial for improving prenatal screening, counseling strategies, and potential interventions.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 80-83"},"PeriodicalIF":2.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143912341","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":"Newborn screening for neuro-metabolic disorders: Strategies, clinical benefits, and prerequisites for program expansion","authors":"Ulrike Mütze,&nbsp;Svenja Scharré,&nbsp;Elena Schnabel-Besson,&nbsp;Oya Kuseyri Hübschmann,&nbsp;Friederike Höster,&nbsp;Ali Tunҫ Tuncel,&nbsp;Stefan Kölker,&nbsp;Thomas Opladen","doi":"10.1016/j.ejpn.2025.03.017","DOIUrl":"10.1016/j.ejpn.2025.03.017","url":null,"abstract":"<div><div>Newborn screening (NBS) is a successful program of secondary prevention for rare diseases, such as neuro-metabolic diseases, enabling early identification of affected individuals and pre-symptomatic treatment. Driven by innovations in high-throughput sequencing technologies, NBS panels have continued to grow and will probably be extended further in the future. However, implementing NBS for a disease is subject to various preconditions to maximize the benefit for the affected children, while avoiding harm to the screened healthy cohort, their families and the society. Ideally, data on clinical long-term benefit of NBS and early treatment is collected prior to NBS implementation through long-term observational studies and registries. In addition, NBS should be implemented as an iteratively evaluated public health program and the data collection should be accompanied by intra-operable long-term observational studies, ideally extended in international cooperations. In this review, the current expertise in NBS, the screening strategies and possible long-term clinical benefits are presented and discussed for several neuro-metabolic diseases, including propionic acidemia and isolated methylmalonic acidemias, homocystinurias, remethylation defects, acquired cobalamin (vitamin B₁₂) deficiency, urea cycle disorders, tetrahydrobiopterin (BH₄) and primary neurotransmitter disorders, as well as lysosomal storage disorders. Given these prerequisites, several of the neuro-metabolic diseases discussed here might be part of future NBS programs worldwide.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 84-96"},"PeriodicalIF":2.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143917448","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":"Education and participation in children and adolescents with Duchenne muscular dystrophy in Switzerland","authors":"Bettina C. Henzi ,&nbsp;Dominique Baumann ,&nbsp;Eleftheria Michalopoulou ,&nbsp;Sarah J. Erni ,&nbsp;Leonie Steiner ,&nbsp;Nadine Lötscher ,&nbsp;Anne Tscherter ,&nbsp;Andrea Klein","doi":"10.1016/j.ejpn.2025.03.010","DOIUrl":"10.1016/j.ejpn.2025.03.010","url":null,"abstract":"<div><div>Quality of life in Duchenne muscular dystrophy has been reported to be negatively affected by the lack of qualifying education and the lack of opportunities for participation in leisure activities. Two thirds of patients with Duchenne muscular dystrophy have cognitive and/or psychiatric problems. Thus, we conducted a survey study on mobility, school problems, executive functions, social participation and quality of life in young patients in Switzerland.</div><div>We contacted 60 male patients with Duchenne muscular dystrophy aged 8–18 years through the Swiss Registry for Neuromuscular Disorders. Mobility, school problems and social participation in leisure activities were assessed with a self-constructed questionnaire. Quality of life and executive function were assessed using KIDSCREEN-10 and BRIEF scores, respectively.</div><div>Out of 60 dispatched surveys, 67 % were filled out and included. Approximately half of the participants went to a special needs school, and 83 % rated their overall quality of life as good. We did not find a correlation between mobility and quality of life, whereas more social participation was correlated with higher quality of life. Furthermore, patients with more difficulties in executive functions showed less participation and lower quality of life.</div><div>These results underline the need for neuropsychological and adapted assistance in patients with Duchenne muscular dystrophy to facilitate education and social participation.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 107-114"},"PeriodicalIF":2.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143928277","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":"The role of cardiovascular response as a predictor of neurologic disability in children with brain injury – a pilot study","authors":"Marta João Silva ,&nbsp;Hernâni Gonçalves ,&nbsp;Rute Almeida ,&nbsp;Claúdia Camila Dias ,&nbsp;Ana Isabel Almeida ,&nbsp;Ana Paula Rocha ,&nbsp;Cristina Granja ,&nbsp;Maria João Baptista ,&nbsp;Inês Azevedo","doi":"10.1016/j.ejpn.2025.04.009","DOIUrl":"10.1016/j.ejpn.2025.04.009","url":null,"abstract":"&lt;div&gt;&lt;h3&gt;Objective&lt;/h3&gt;&lt;div&gt;We aimed to assess medium-to long-term neurological outcomes in children with severe acute brain injury (ABI) and to identify cardiovascular predictors associated with unfavorable outcomes, such as heart rate (HR), blood pressure (BP), and heart rate variability (HRV). HRV refers to the oscillations in the intervals between consecutive heartbeats, reflecting the dynamic interplay between sympathetic and parasympathetic impulses to the heart. It provides a non-invasive indicator of autonomic nervous system (ANS) activity.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Design&lt;/h3&gt;&lt;div&gt;Prospective observational cohort.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Setting&lt;/h3&gt;&lt;div&gt;Tertiary academic pediatric intensive care unit (PICU).&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Patients&lt;/h3&gt;&lt;div&gt;Children &gt;27 days and &lt;18 years old admitted to the PICU after severe ABI who survived to PICU discharge. Children suspected of being brain dead at PICU admission or with cardiac arrythmias were excluded.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Interventions&lt;/h3&gt;&lt;div&gt;None.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Measure&lt;/h3&gt;&lt;div&gt;ments: Physiological variables, neurological data, chemistry and hematologic tests and medication were collected within the initial 12 h following admission to the PICU. Linear and nonlinear indices of HRV obtained from electrocardiogram (ECG) Holter recordings, computerized tomography (CT) and PICU scores, as well as survival rates within the PICU, were evaluated. The primary outcome measure was global functional outcome as measured by the Pediatrics Glasgow Outcome Scale Extended (GOSE-Peds) at 3 and 12 months after injury. These data were taken by reviewing the medical records. The outcome was dichotomized into favorable and unfavorable based on predefined cutoffs. None to mild disability (GOSE-E PEDS category ≤2) was categorized as favorable outcome, whereas moderate to severe disability was categorized as unfavorable (GOSE-E PEDS category ≥3).&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Main results&lt;/h3&gt;&lt;div&gt;Thirty-one children with ABI were eligible for the study. Twenty-four were male (77.4 %) and they had the median age of 11.3 years old (IQR 5.6–14.3). Twenty-two (71.0 %) patients had traumatic brain injury (TBI) and five (16.1 %) cerebral hemorrhage. Sixteen children (51.6 %) had a favorable outcome at 3 months and twenty-one (67.7 %) at 12 months. The presence of tachycardia or bradycardia was not related to the prognosis. Patients with systolic arterial blood pressure (SBP) above the 95th percentile in the first 12 h after admission to the PICU exhibited a significantly better neurological outcome [15 (68.2 %) vs. 9 (31.8 %), p = 0.006] at 3 months, and [20 (83.3 %) vs. 4 (16.7 %), p = 0.002] at 12 months. Calculated HRV values were higher, both on admission and 12 h after admission, in patients with a favorable prognosis at 3 and 12 months. However, these results were statistically significant only for RMSSD, LF, TP, and &lt;em&gt;Poincaré&lt;/em&gt; SD1 and SD2 at 12 h after admission and for outcomes at 3 months. Patients with LF &gt;","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 38-45"},"PeriodicalIF":2.3,"publicationDate":"2025-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143868137","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":"Treatment of leukodystrophies: Advances and challenges","authors":"Nicole I. Wolf ,&nbsp;Marjo S. van der Knaap ,&nbsp;Marc Engelen","doi":"10.1016/j.ejpn.2025.03.016","DOIUrl":"10.1016/j.ejpn.2025.03.016","url":null,"abstract":"<div><div>Leukodystrophies, a group of genetic disorders primarily affecting brain white matter, were once considered untreatable. Advances in MRI and genetic diagnostics now allow most patients to receive a genetic diagnosis, and emerging treatments are shifting the field from therapeutic nihilism to cautious optimism. Allogenic haematopoietic stem cell transplantation (HSCT), used since the 1980s, has shown efficacy in specific leukodystrophies, such as adrenoleukodystrophy and metachromatic leukodystrophy, when administered early. Gene therapy has become a viable option, with ex vivo approaches like atidarsagene autotemcel providing promising outcomes for early-onset MLD. Trials for gene replacement and antisense oligonucleotide therapies are ongoing for several leukodystrophies, including Canavan disease and Alexander disease. Certain treatments, such as guanabenz for Vanishing White Matter, target disease-specific dysregulated molecular pathways. Despite these advances, challenges remain, including the ultrarare nature of most leukodystrophies, limited natural history data, high treatment costs, and barriers to accessibility. Future developments, including newborn screening and close international collaboration, aim to enhance early diagnosis, refine treatment timing, and expand access to innovative therapies.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 46-50"},"PeriodicalIF":2.3,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143865018","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":"From childhood to adulthood: Long-term assessment of continuous intrathecal baclofen therapy in non-ambulant spastic cerebral palsy","authors":"B.H.M. Martens ,&nbsp;M. Iskander ,&nbsp;D.L. Soudant ,&nbsp;G.F. Vles ,&nbsp;L.A. Bonouvrié ,&nbsp;O.P.M. Teernstra ,&nbsp;J.S.H. Vles ,&nbsp;R.J. Vermeulen","doi":"10.1016/j.ejpn.2025.04.002","DOIUrl":"10.1016/j.ejpn.2025.04.002","url":null,"abstract":"<div><h3>Background</h3><div>knowledge about lasting effects of continuous intrathecal baclofen (CITB) therapy during development into adulthood in non-ambulant individuals with cerebral palsy (CP) is limited.</div></div><div><h3>Aim</h3><div>we assessed individual goals including ease of care, pain reduction, at long term. Also, we aimed to gauge burden of CITB through hospitalization rates, orthopedic surgeries, pump-related complications, pump refills, and satisfaction levels among individuals and caregivers.</div></div><div><h3>Methods</h3><div>a prospective cohort of 17 individuals with CP (pump implantation 2002–2005) was assessed in 2022. Visual Analogue Scale (VAS) scores, Child Health Questionnaire Parent Form-50 (CHQ-PF50), and a Likert-scale questionnaire, were employed. Data was gathered through interviews with individuals or caregivers.</div></div><div><h3>Results</h3><div>fifteen individuals were alive at initial follow-up (mean age 31.8 years). Statistically significant improvements in VAS scores for individual goals, ease of care, and pain observed six months post-therapy initiation persisted into adulthood. Mental health and change in health decreased back to baseline at long-term follow-up, other domains of quality in life did not differ significantly. Treatment-related hospital admission was one per 3.6 years, of which 13.2 % were due to complications. The number of patients with scoliosis increased during the years. Despite, the majority (80 %) expressed continued preference for CITB treatment.</div></div><div><h3>Conclusion</h3><div>improvements of CITB on domains of body function, activities and social participation, and quality of life persist into adulthood. Although there are some side effects of CITB therapy, both patients and their caregivers report high satisfaction.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 17-23"},"PeriodicalIF":2.3,"publicationDate":"2025-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143834406","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}