Abstract
In children with Prader Willi syndrome (PWS), besides growth hormone (GH) therapy, control of the food environment and regular exercise, surgical treatment of scoliosis deformities seems the treatment of choice, even though the risks of spinal surgery in this specific population is very high. Therefore the question arises as to whether the risks of spinal surgery outweigh the benefits in a condition, which bears significant risks per se. The purpose of this systematic review of the Pub Med literature was to find mid or long-term results of spinal fusion surgery in patients with PWS, and to present the conservative treatment in a case study of nine patients with this condition.Types of studies included; all kinds of studies; retrospective and prospective ones, which reported upon the outcome of scoliosis surgery in patients with PWS.Types of participants included: patients with scoliosis and PWS.Type of intervention: surgery.Search strategy for identification of the studies; Pub Med; limited to English language and bibliographies of all reviewed articles.Nine patients with PWS from our data-base treated conservatively have been found, being 19 years or over at the time this study has been performed. The results of conservative management are described and related to the natural history and treatment results found in the Pub Med review.From 2210 titles displayed in the Pub Med database with the key word being "Prader Willi syndrome", 5 different papers were displayed at the date of the search containing some information on the outcome of surgery and none appeared to contain a mid or long-term follow-up. The PWS patients treated conservatively from our series all stayed below 70° and some of which improved.If the curve of scoliosis patients with PWS can be kept within certain limits (usually below 70 degrees) conservatively, this treatment seems to have fewer complications than surgical treatments. The results of our retrospective study of nine patients demonstrate that scoliosis in this entity plays only a minor role and surgery is unnecessary when high quality conservative management exists.There is lack of the long follow-up studies in post-surgical cases in patients with PWS and scoliosis. The rate of complications of spinal fusion in patients with PWS and scoliosis is very high and the death rates have been found to be higher than in patients with Adolescent Idiopathic Scoliosis (AIS). The long-term side-effects of the intervention are detrimental, so that the risk-benefit ratio favours the conservative approaches over spinal fusion surgery.
Highlights
As pointed out by Molinas et al [1] the rare genetic neurodevelopmental disorder called Prader-Willi syndrome (PWS), related to the lack of expression of paternal genes in the q11–q13 region of chromosome 15 was first described in 1956 [2]
From 2210 titles displayed in the Pub Med database with the key word being "Prader Willi syndrome", 5 different papers were displayed at the date of the search containing some information on the outcome of surgery and none appeared to contain a mid or long-term follow-up
The long-term side-effects of the intervention are detrimental, so that the risk-benefit ratio favours the conservative approaches over spinal fusion surgery
Summary
As pointed out by Molinas et al [1] the rare genetic neurodevelopmental disorder called Prader-Willi syndrome (PWS), related to the lack of expression of paternal genes in the q11–q13 region of chromosome 15 was first described in 1956 [2]. PWS infants exhibit severe hypotonia already present at birth that partially improves, explaining in part suckling and swallowing troubles, failure to thrive (i.e. failure to get weight besides normal or increased caloric intake) as well as delayed psycho-motor development [6,7,8]. After this initial phase of about 2 years, the most striking sign appears: early and severe obesity related to an increasing appetite and the decrease of satiety with an overwhelming eating obsession [9]. The constant and longterm need for food restriction, behaviour management and medical care may be stressful for PWS patients and family members [15,16]
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