Purpose: The etiology of early-onset scoliosis (EOS) has been shown to significantly influence baseline parent-reported health-related quality of life (HRQoL) measures as assessed by the Early Onset Scoliosis Questionnaire (EOSQ). However, it remains unclear how etiology influences mid-term outcomes following growth friendly instrumentation (GFI) for EOS.
Methods: A retrospective review of a multi-center prospective spinal database was performed. Children undergoing primary distraction-based, GFI for EOS with complete baseline, 2-year, and 5-year post-surgical EOSQ were included. The identified children were subdivided by etiology as classified by the C-EOS system. EOSQ scores were compared over time according to etiology cohorts and between instrumentation types. Minimal clinically important difference (MCID) was defined as ≥ 20% change in domain score and compared across etiologies. Dominance analysis was used to assess for drivers of treatment satisfaction.
Results: A total of 178 children (mean 7.3 ± 2.1 years, 51.1% female) were included. The most common etiology was neuromuscular (NM: 36.5%), with the majority of children treated with MCGR (N = 125). Significant differences between etiology groups were present with congenital and idiopathic cohorts demonstrating similar EOSQ domain scores that were significantly higher than neuromuscular and syndromic cohorts. In assessing clinically important changes in EOSQ scores over the 5-year follow-up period, neuromuscular and syndromic patients demonstrated the greatest capacity for improved outcomes. Instrumentation type had no influence on HRQoL scores at 5-year follow-up. Etiology was a driver of satisfaction with syndromic etiology and transfer domain score at 2 years follow-up associated with dissatisfaction.
Conclusion: Curve etiology remains a significant driver of HRQoL domains following growth-friendly instrumentation for EOS. Neuromuscular and syndromic patient have significantly lower domain scores. Despite this, or perhaps because of it, they also demonstrate the greatest capacity for clinically important improvement in HRQoL measures 5 years following intervention.
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http://dx.doi.org/10.1007/s43390-024-01029-0 | DOI Listing |
Orphanet J Rare Dis
March 2025
Pediatric Endocrinology, Diabetology, Gynecology Department, Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France.
Background: The current development of gynecology services for children and adolescents seeks to meet needs both in the overall population and in patients with rare diseases. In France, the referral center for rare gynecological diseases specializes in four major types of conditions, namely, uterovaginal malformations, hereditary hemorrhagic diseases, rare benign breast diseases, and gynecological repercussions of rare chronic diseases.
Objective: To describe consecutive patients who had a first visit in 2018-2023 at the referral center for rare gynecological diseases at the Necker Pediatric University Hospital in Paris, France, and who were diagnosed with a condition in any of the four categories listed above.
J Clin Neurol
March 2025
Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, China.
Cureus
February 2025
Neurology, University of Texas Medical Branch, Galveston, USA.
Myasthenia gravis (MG) is an autoimmune neuromuscular disease characterized by fatigable muscle weakness. While commonly linked to acetylcholine receptor (AChR) antibodies, other reported antibodies include muscle-specific kinase (MuSK), low-density lipoprotein receptor-related protein 4 (LRP4), agrin, striated muscle, myosin, ryanodine receptor, and titin. Notably, titin antibodies are being highlighted for their role in MG pathogenesis, as they have been associated with increased disease severity.
View Article and Find Full Text PDFJ Neurol Sci
February 2025
Department of Neurology, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.
Objectives: To elucidate current epidemiological, clinical, and immunological profiles, and the treatment of Isaacs syndrome in Japan.
Methods: We conducted a nationwide survey using established methods. Questionnaires were sent to neurological facilities throughout Japan to identify Isaacs syndrome patients seen between April 2018 and March 2021.
BMJ Case Rep
March 2025
Department of Neurology No. 2, Nicolae Testemițanu State University of Medicine and Pharmacy, Chisinau, Moldova (the Republic of).
Lambert-Eaton myasthenic syndrome (LEMS) is a rare neuromuscular junction (NMJ) disorder which is categorised as either paraneoplastic or primary autoimmune. In both forms, auto-antibodies target voltage-gated calcium channels at the presynaptic level of the NMJ. Paraneoplastic LEMS is most commonly associated with small cell lung cancer (SCLC), but it can also be caused by other malignancies.
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