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

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

doi:10.3390/jcm11061574

Abstract

The characteristics of scoliosis were investigated in a large cohort of children and adults with Prader–Willi syndrome (PWS), analysing the role of age, gender, puberty, body mass index (BMI), genotype and growth hormone therapy (GHT) on its onset and severity. A retrospective cross-sectional study was performed in 180 patients with genetically confirmed PWS (96 females), aged 17.6 ± 12 years. Eighty-five subjects (47%) were obese. One hundred and fifty subjects (83.3%) were on GHT, while 30 patients had never been treated. Overall, 150 subjects (83.3%) were affected by scoliosis, 80.2% of children and adolescents and 87.8% of adults. A mild degree of scoliosis was observed in 58 patients (38.7%), moderate in 43 (28.7%) and severe in 49 (32.6%). Median age at diagnosis of scoliosis was 6.3 years, while the severe forms were diagnosed earlier (median age: 3.8 years). The cumulative probability at 5 years of age was equal to 0.403 and almost doubled at 15 years. No significant associations were found between scoliosis and genotype, gender, pubertal stage, GHT and BMI. A corset was prescribed to 75 subjects (50%) at a median age of 7.5 years, while 26 subjects (17.3%) underwent surgery at a median age of 13.1 years. Our data indicate that scoliosis is one of the major concerns for PWS patients that increases with age, and therefore suggest the need for regular systematic monitoring of spinal deformity from paediatric age.

Highlights

Prader–Willi syndrome (PWS) is a rare genetic disorder, with an incidence of approximately 1 in 21,000 newborns [1]
Scoliosis was included as a supportive feature in the consensus clinical criteria of PWS, with no direct impact on the diagnostic score established by Holm et al in 1993 [29,30]
This spinal deformity has long been underestimated in PWS, but with the improvement in early diagnosis and the multidisciplinary therapeutic approach, it has been diagnosed precociously and has become one of the major concerns for these patients

Summary

Introduction

Prader–Willi syndrome (PWS) is a rare genetic disorder, with an incidence of approximately 1 in 21,000 newborns [1]. It is considered the most common syndromic cause of morbid obesity and is caused by abnormalities of chromosome 15, including paternal deletion (del15), uniparental maternal disomy (UPD15) and, more rarely, imprinting centre defect [2]. The predominant features include neonatal hypotonia, poor feeding and lack of appetite in infancy, followed by hyperphagia with early childhood-onset morbid obesity (if uncontrolled), dysmorphic features (characteristic facial appearance, small hands and feet), behavioural problems, cognitive impairment, multiple endocrine abnormalities (hypogonadism, growth hormone/insulin-like growth factor-I axis dysfunction, hypothyroidism, hyperghrelinemia and, rarely, central adrenal insufficiency), and sleep-disordered breathing [3,4]. Clinical diagnosis of scoliosis and other spinal deformities are often delayed in PWS children, probably due to obesity and/or hypotonia [10] and to the lack of vertebral rotation related to the curve [11], making it one of the major health problems in adulthood [12,13]

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