Mishra Devendra, Sural Sumit, Kapoor Seema
Department of Pediatrics, Maulana Azad Medical College and Lok Nayak Hospital (Delhi University), 2, BSZ Marg, New Delhi, 110002, India.
Department of Orthopedics, Maulana Azad Medical College and Lok Nayak Hospital (Delhi University), New Delhi, India.
Indian Pediatr. 2025 Apr 7. doi: 10.1007/s13312-025-00059-9.
This hospital-based study evaluated the magnitude and characteristics of musculoskeletal anomalies in children with Down syndrome.
Children aged 3 months to 14 years, diagnosed to have Down syndrome by karyotyping, were evaluated for musculoskeletal anomalies. We excluded children diagnosed with another chronic condition affecting musculoskeletal health (e.g., cerebral palsy, muscular diseases); and those with any acute illness, which is likely to affect evaluation for musculoskeletal anomalies. A detailed history was taken, and clinical examination was performed by a pediatrician and an orthopedic surgeon. Detailed joint examination was done using pGALS (pediatric Gait Arms Legs and Spine), and Beighton Hypermobility Score was used to assess hypermobility in those aged 6 year or more. X-ray cervical spine (lateral view in neutral, flexion and extension) was done for all children to determine atlantoaxial instability. Additionally, in children with any suspected musculoskeletal anomaly on clinical examination, relevant radiological investigations were performed under the guidance of an orthopedic surgeon.
The median (IQR) age of the study population (n = 75) was 5 (2.5, 8) years with 56% boys. Musculoskeletal anomalies were identified in 86.6% (n = 65). Hypotonia and joint laxity (77.3% each) were common in the whole group; pes planus (82%) and orthopedic abnormalities (69.3%) were prevalent among ambulatory children. Occurrence of genu valgum was found to increase with increasing body mass index (P = 0.045).
Musculoskeletal problems were common in children with Down syndrome, and this information may guide health professionals in early identification of musculoskeletal problems in children with Down syndrome.
本基于医院的研究评估了唐氏综合征患儿肌肉骨骼异常的程度和特征。
对年龄在3个月至14岁、经核型分析诊断为唐氏综合征的儿童进行肌肉骨骼异常评估。我们排除了被诊断患有另一种影响肌肉骨骼健康的慢性疾病（如脑瘫、肌肉疾病）的儿童；以及患有任何可能影响肌肉骨骼异常评估的急性疾病的儿童。采集了详细病史，并由一名儿科医生和一名骨科医生进行临床检查。使用儿科步态、手臂、腿部和脊柱（pGALS）进行详细的关节检查，并使用贝ighton关节活动过度评分来评估6岁及以上儿童的关节活动过度情况。对所有儿童进行颈椎X线检查（中立位、屈曲位和伸展位的侧位片）以确定寰枢椎不稳。此外，对于临床检查中怀疑有任何肌肉骨骼异常的儿童，在骨科医生的指导下进行相关的放射学检查。
研究人群（n = 75）的中位年龄（四分位间距）为5（2.5，8）岁，其中56%为男孩。86.6%（n = 65）的儿童被发现有肌肉骨骼异常。肌张力低下和关节松弛（各占７７.３%）在整个组中很常见；扁平足（８２%）和骨科异常（６９.３%）在能行走的儿童中普遍存在。发现膝外翻的发生率随体重指数的增加而升高（Ｐ ＝ ０.０４５）。
肌肉骨骼问题在唐氏综合征患儿中很常见，这些信息可能有助于卫生专业人员早期识别唐氏综合征患儿的肌肉骨骼问题。
