High Prevalence of Scoliosis in a Large Cohort of Patients with Prader-Willi Syndrome

Crinò, Antonino; Armando, Michela; Crostelli, Marco; Mazza, Osvaldo; Bruzzese, Dario; Convertino, Alessio; Fintini, Danilo; Bocchini, Sarah; Ciccone, Sara; Sartório, Alessandro; Grugni, Graziano

doi:10.3390/jcm11061574

Cited by 9 publications

(12 citation statements)

References 38 publications

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“…Scoliosis is likely related to hypotonia of (paravertebral) muscles, low physical activity, and obesity ( 35 , 38 , 41 ). Additionally, late menarche and low estrogen levels might be linked to scoliosis in females with PWS ( 42–45 ), although results are inconclusive ( 40 ).…”

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confidence: 99%

Bone Health in Adults With Prader–Willi Syndrome: Clinical Recommendations Based on a Multicenter Cohort Study

Abswoude

Pellikaan

Rosenberg

et al. 2022

The Journal of Clinical Endocrinology &Amp; Metabolism

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Context Prader-Willi syndrome (PWS) is a rare complex genetic syndrome, characterized by delayed psychomotor development, hypotonia and hyperphagia. Hormone deficiencies like hypogonadism, hypothyroidism and growth hormone deficiency are common. The combination of hypotonia, low physical activity and hypogonadism might lead to a decrease in bone mass and increase in fracture risk. Moreover, one would expect an increased risk of scoliosis due to hypotonia and low physical activity. Objective To study the prevalence and risk factors for skeletal problems (reduced bone mineral density, fractures, and scoliosis) in adults with PWS. Methods We retrospectively collected patient characteristics, medical history, medication, biochemical measurements, Dual-energy X-ray Absorptiometry (DEXA) scans, and spinal X-rays and reviewed the current literature. Results We included 354 adults with PWS (median age 31 years; 43% males), of whom 51 (14%) had osteoporosis (T -score below -2.5) and 143 (54%) had osteopenia (T-score -1 to -2.5). The most prevalent modifiable risk factors for osteoporosis were hypogonadism, insufficient dairy intake, sedentary lifestyle, and corticosteroid use. Male sex was associated with osteoporosis (p= 0.005). Growth hormone treatment was not associated with osteoporosis. A history of vertebral fractures was present in 10 (3%) and non-vertebral fractures in 59 (17%). Scoliosis was present in 263 (80%), but no modifiable risk factors were identified. Conclusion Besides scoliosis, osteoporosis is common in adults with PWS. Based on the literature and the risk factors for osteoporosis found in our cohort, we provide practical clinical recommendations to avoid skeletal complications in these vulnerable patients.

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confidence: 99%

Bone Health in Adults With Prader–Willi Syndrome: Clinical Recommendations Based on a Multicenter Cohort Study

Abswoude

Pellikaan

Rosenberg

et al. 2022

The Journal of Clinical Endocrinology &Amp; Metabolism

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“…Hip dysplasia (HD) is a signi cant musculoskeletal concern in Prader-Willi Syndrome (PWS) [6,10,11] , yet the literature addressing its prevalence, diagnostic approaches, and particularly its surgical management remains scarce. Reported prevalence rates for HD in PWS vary widely, ranging from 8-30% [1,2,6,7,12,13] .…”

Section: Discussionmentioning

confidence: 99%

The prevalence and surgical outcome of Hip Dysplasia in children with Prader-Willi Syndrome

Mo,

Wu,

Huang

et al. 2024

Preprint

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Background Prader-Willi syndrome (PWS) is a rare disease. Orthopedic-related diseases of PWS include scoliosis, hip dysplasia, osteoporosis, genu valgum, and foot deformities. Limited literature exists on the prevalence, diagnosis, and surgical management of hip dysplasia (HD) in PWS. This study aims to assess the prevalence of hip dysplasia in children with PWS and to evaluate the outcomes following surgical intervention. Materials and Methods A retrospective analysis was conducted on patients diagnosed with PWS at our institution from January 2017 to December 2021. Only those with a genetic confirmation of PWS and an anteroposterior (AP) pelvic radiograph were included. Patient demographics were collected, and the acetabular index (AI) was measured. For children over five years of age, the central edge angle (CEA) was also recorded. A single fellowship-trained pediatric orthopedic surgeon determined the presence of HD based on radiographic measurements. Patients who underwent surgery were followed up for a minimum of 12 months. Results Among the 178 patients with PWS (100 males and 78 females), 99 had AP pelvic radiograph, of which 33 met the criteria of HD, with a prevalence of 33.3%. There was no significant association between prevalence and sex (P = 0.769) or genetic subtype (P = 0.574). The mean age at the time of diagnosis was 34.4 months (6 months to 109 months). Five patients (2 right side, 3 bilateral) underwent surgical intervention, including Salter innominate osteotomy, proximal femoral osteotomy, and close/open reduction of the hip, at an average age of 82.4 months. One patient (2 hips) was lost to follow-up 1.5 months post cast removal. There was a statistically significant improvement in AI from preoperative (42.8 ± 5.9 degrees) to postoperative (21.7 ± 7.7 degrees) measurements (P = 0.003). One hip resulted in stiffness with a flexion of 60 degrees, while the others showed good mobility. No serious postoperative complications were reported during the follow-up. Conclusions The present study demonstrated a higher prevalence of hip dysplasia in patients with PWS than in the general population. The prevalence does not significantly differ across sexes or genetic subtypes. Surgical treatment could reach a similar results as to those of hip dysplasia without PWS.

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“…Scoliosis is present in 30%-78% of patients. 6,7 Scoliosis may affect the motor function of respiratory muscles and lead to respiratory damage. 8 Cor pulmonale and respiratory failure might be the most common cause of death and long-term complications in PWS.…”

Section: Introductionmentioning

confidence: 99%

“…8 Cor pulmonale and respiratory failure might be the most common cause of death and long-term complications in PWS. 7,9,10 Recombinant human growth hormone (rhGH) is one of the drugs used in PWS, but its effect on bone deformity is still controversial. rhGH therapy has been considered a possible risk factor for the onset of scoliosis in some studies.…”

Section: Introductionmentioning

confidence: 99%

Orthopedic manifestations in children with Prader-Willi syndrome

Miao,

Zhao,

Zhou

et al. 2023

Preprint

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Background Prader-Willi syndrome (PWS) is a rare genetic disease often associated with bone problems, mainly scoliosis and hip dysplasia (HD). This study aimed to analyze the clinical characteristics of orthopedic deformities in patients with PWS. Methods A retrospective study was conducted on 175 patients up to March 2023. The Cobb angle(CA) of the spine, the alpha angle of the hip joint, and the acetabular index (AI) were measured. This study aimed to evaluate the relationship between demographic parameters and bone deformities. Results Scoliosis was found in 66 patients (43.7%), including 52 (78.8%) with mild scoliosis, 10 (15.2%) with moderate scoliosis, and 4 (6.1%) with severe scoliosis. Only seven patients received orthopedic treatment (10.6%). The median age of scoliosis was 4.5 years old, and the prevalence of scoliosis increased rapidly at the age of 5 years and adolescence. The mean CA in this study increased gradually with age. HD was found in 47 patients (38.2%), and 6 patients received orthopedic treatment (12.7%). The median age at HD was 1.8 years old. The mean AI of the study population decreased with age. The prevalence of HD treated with recombinant human growth hormone (rhGH) was low. No significant differences were observed in sex, genotype, body mass index (BMI), obesity rate, or onset of scoliosis and HD. Conclusion The prevalence of scoliosis and HD was higher in patients with PWS. The onset age and developmental trends of the different skeletal malformations were different. Early diagnosis and treatment are important for the prognosis and treatment of orthopedic diseases in patients with PWS.

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High Prevalence of Scoliosis in a Large Cohort of Patients with Prader-Willi Syndrome

Cited by 9 publications

References 38 publications

Bone Health in Adults With Prader–Willi Syndrome: Clinical Recommendations Based on a Multicenter Cohort Study

Bone Health in Adults With Prader–Willi Syndrome: Clinical Recommendations Based on a Multicenter Cohort Study

The prevalence and surgical outcome of Hip Dysplasia in children with Prader-Willi Syndrome

Orthopedic manifestations in children with Prader-Willi syndrome

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