Domenico Marco Romeo , Virginia Pironi , Chiara Velli , Elisabetta Sforza , Donato Rigante , Valentina Giorgio , Chiara Leoni , Cristina De Rose , Eliza Maria Kuczynska , Domenico Limongelli , Roberta Ruiz , Cristiana Agazzi , Eugenio Mercuri , Giuseppe Zampino , Roberta Onesimo
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There is growing evidence that ligamentous laxity can be associated with chronic musculoskeletal problems and may affect motor development leading to abnormal developmental trajectories.</p><p>This study aimed to assess the prevalence of ligamentous laxity in children with ACH through standardized tools, the Beighton scale and its modified version for preschool-age children.</p><p>A total of 33 children (mean age 6.4 ± 3.2 years; age range 1–12.5 years) diagnosed with ACH by the demonstration of a pathogenic variant in the <em>FGFR3</em> gene and 33 age- and sex-matched healthy controls were included in the study. Both ligamentous laxity assessment and neurological examinations were performed; medical history was also collected from caregivers.</p><p>Children with ACH showed a 2 times higher risk of ligamentous laxity than the group without skeletal dysplasia (OR = 2.2; 95% CI = 1.0 to 4.7), with 55% of children meeting the diagnostic criteria for hypermobility. No significant difference in ligamentous laxity was observed between males and females.</p><p>Joint involvement analysis revealed characteristic patterns, with knee hypermobility observed in 67% of patients, while rare was elbow hypermobility. Longitudinal assessments indicated a decreasing trend in ligamentous laxity scores over time, suggesting a potential decrease in hypermobility issues during adulthood.</p><p>The findings of this study provide valuable insights into the prevalence and characteristics of ligamentous laxity in ACH. Implementation of standardized ligamentous laxity assessments might guide patients’ follow-up and facilitate early interventions, helping to prevent pain and improve outcomes and quality of life for such patients. 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引用次数: 0
摘要
软骨发育不全(ACH)是骨骼发育不良中最常见的一种,其特征是严重的不成比例的矮小身材、佝偻病、夸张的腰椎前凸、腕畸形、伴有额凸的巨头畸形和面中部发育不良。据报道,韧带松弛是 ACH 的一个显著特征,但尚未对其发病率和特征进行系统评估。越来越多的证据表明,韧带松弛可能与慢性肌肉骨骼问题有关,并可能影响运动发育,导致发育轨迹异常。本研究旨在通过标准化工具--Beighton量表及其针对学龄前儿童的修订版--来评估韧带松弛症在ACH患儿中的患病率。研究共纳入了33名经FGFR3基因致病变异确诊为ACH的儿童(平均年龄为6.4 ± 3.2岁;年龄范围为1-12.5岁),以及33名年龄和性别匹配的健康对照组儿童。研究人员进行了韧带松弛评估和神经系统检查,并向护理人员收集了病史资料。ACH患儿出现韧带松弛的风险是无骨骼发育不良患儿的2倍(OR = 2.2;95% CI = 1.0至4.7),其中55%的患儿符合过度活动症的诊断标准。男性和女性在韧带松弛方面没有明显差异。关节受累情况分析显示,67%的患者存在膝关节活动过度的情况,而肘关节活动过度的情况则很少见。纵向评估显示,随着时间的推移,韧带松弛评分呈下降趋势,这表明过度活动问题在成年后可能会减少。这项研究的结果为了解阿赫人韧带松弛的发生率和特点提供了宝贵的见解。实施标准化的韧带松弛评估可为患者的随访提供指导,并促进早期干预,从而帮助此类患者预防疼痛、改善预后和生活质量。我们还需要进一步开展前瞻性研究,以探索阿赫玛氏症患者韧带松弛的自然史,并研究新出现的药物治疗对过度活动可能产生的影响。
Ligamentous laxity in children with achondroplasia: Prevalence, joint involvement, and implications for early intervention strategies
Achondroplasia (ACH), the most common form of skeletal dysplasia, is characterized by severe disproportionate short stature, rhizomelia, exaggerated lumbar lordosis, brachydactyly, macrocephaly with frontal bossing and midface hypoplasia.
Ligamentous laxity has been reported as a striking feature of ACH, but its prevalence and characteristics have not been systematically evaluated yet. There is growing evidence that ligamentous laxity can be associated with chronic musculoskeletal problems and may affect motor development leading to abnormal developmental trajectories.
This study aimed to assess the prevalence of ligamentous laxity in children with ACH through standardized tools, the Beighton scale and its modified version for preschool-age children.
A total of 33 children (mean age 6.4 ± 3.2 years; age range 1–12.5 years) diagnosed with ACH by the demonstration of a pathogenic variant in the FGFR3 gene and 33 age- and sex-matched healthy controls were included in the study. Both ligamentous laxity assessment and neurological examinations were performed; medical history was also collected from caregivers.
Children with ACH showed a 2 times higher risk of ligamentous laxity than the group without skeletal dysplasia (OR = 2.2; 95% CI = 1.0 to 4.7), with 55% of children meeting the diagnostic criteria for hypermobility. No significant difference in ligamentous laxity was observed between males and females.
Joint involvement analysis revealed characteristic patterns, with knee hypermobility observed in 67% of patients, while rare was elbow hypermobility. Longitudinal assessments indicated a decreasing trend in ligamentous laxity scores over time, suggesting a potential decrease in hypermobility issues during adulthood.
The findings of this study provide valuable insights into the prevalence and characteristics of ligamentous laxity in ACH. Implementation of standardized ligamentous laxity assessments might guide patients’ follow-up and facilitate early interventions, helping to prevent pain and improve outcomes and quality of life for such patients. Further prospective studies are needed to explore the natural history of ligamentous laxity in ACH and investigate the potential impact of emerging pharmacological treatments upon hypermobility.
期刊介绍:
The European Journal of Medical Genetics (EJMG) is a peer-reviewed journal that publishes articles in English on various aspects of human and medical genetics and of the genetics of experimental models.
Original clinical and experimental research articles, short clinical reports, review articles and letters to the editor are welcome on topics such as :
• Dysmorphology and syndrome delineation
• Molecular genetics and molecular cytogenetics of inherited disorders
• Clinical applications of genomics and nextgen sequencing technologies
• Syndromal cancer genetics
• Behavioral genetics
• Community genetics
• Fetal pathology and prenatal diagnosis
• Genetic counseling.