The Prevalence and Treatment of Hip Dysplasia in Prader-Willi Syndrome (PWS)

Trizno, Anastasiya A; Jones, A.; Carry, Patrick M.; Georgopoulos, Gaia

doi:10.1097/bpo.0000000000001118

Cited by 16 publications

(27 citation statements)

References 31 publications

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“…Therefore, surgical correction of scoliosis is more challenging in patients with low BMD. Besides scoliosis, patients with PWS also have an increased risk of other orthopedic conditions, such as hip dysplasia, genu valgum, and kyphosis ( 146 ). In case of suspect kyphosis, a lateral view total spine X-ray should be performed.…”

Section: Discussionmentioning

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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Section: Discussionmentioning

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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“…Although isolated DDH can be diagnosed in healthy individuals, there are cases when extensive genetic mutations cause teratologic or syndromic DDH [2,3], which occurs prenatally. In syndromic types, DDH can be a part of many or only a sole manifestation of skeletal dysplasia [4][5][6], or it may be present in conjunction with other malformations, e.g., pes equinovarus and acetabular labrum abnormalities. Syndromic dysplasia exists also in association with different pathologies such as Down's syndrome and neurogenic [7], renal or cardiovascular abnormalities.…”

Section: Introductionmentioning

confidence: 99%

Developmental Dysplasia of the Hip: A Review of Etiopathogenesis, Risk Factors, and Genetic Aspects

Harsanyi¹,

Zamborský²,

Krajčíová³

et al. 2020

Medicina

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As one of the most frequent skeletal anomalies, developmental dysplasia of the hip (DDH) is characterized by a considerable range of pathology, from minor laxity of ligaments in the hip joint to complete luxation. Multifactorial etiology, of which the candidate genes have been studied the most, poses a challenge in understanding this disorder. Candidate gene association studies (CGASs) along with genome-wide association studies (GWASs) and genome-wide linkage analyses (GWLAs) have found numerous genes and loci with susceptible DDH association. Studies put major importance on candidate genes associated with the formation of connective tissue (COL1A1), osteogenesis (PAPPA2, GDF5), chondrogenesis (UQCC1, ASPN) and cell growth, proliferation and differentiation (TGFB1). Recent studies show that epigenetic factors, such as DNA methylation affect gene expression and therefore could play an important role in DDH pathogenesis. This paper reviews all existing risk factors affecting DDH incidence, along with candidate genes associated with genetic or epigenetic etiology of DDH in various studies.

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“…Hip Dysplasia occurs in up to 30% of people with PWS (West and Ballock 2004;Trizno et al 2018), which is manyfold greater than in the general population. In one retrospec tive study of 27 individuals with PWS and evidence of hip dysplasia, the mean age of diagnosis was 2 months for those with successful treatment and 12 months for those with residual dysplasia following treatment.…”

Section: Musculoskeletalmentioning

confidence: 96%

“…In one retrospec tive study of 27 individuals with PWS and evidence of hip dysplasia, the mean age of diagnosis was 2 months for those with successful treatment and 12 months for those with residual dysplasia following treatment. Standard physical screening using the Barlow and Ortolani maneuvers missed most cases, therefore the authors recommend hip ultrasound in all infants with PWS at 6 weeks of age (Trizno et al 2018) to ensure early diagnosis.…”

Section: Musculoskeletalmentioning

confidence: 99%