Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

Keynote webinar | Spotlight on medication adherence

LIVE: Thursday 27th June 2024, 18:00-19:30 (CEST)
Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.
ADVANCED SEARCH
Log in
Top
Journal of Endocrinological Investigation
Published in: Journal of Endocrinological Investigation 10/2022

Open Access 01-10-2022 | Obstructive Sleep Apnea Syndrome | Original Article

Body composition and obstructive sleep apnoea assessment in adult patients with Prader–Willi syndrome: a case control study

Authors: G. Pugliese, L. Barrea, A. Sanduzzi Zamparelli, G. de Alteriis, D. Laudisio, G. Muscogiuri, A. Canora, M. Bocchino, A. Colao, S. Savastano

Published in: Journal of Endocrinological Investigation | Issue 10/2022

Login to get access

Abstract

Introduction

In Prader–Willi syndrome (PWS) adult patients, sleep-breathing disorders, especially obstructive sleep apnoea syndrome (OSAS), are very common, whose missed or delayed diagnosis can contribute to further increase cardiovascular morbidity and mortality.

Purpose

The aim of this cross-sectional study was to evaluate differences in sleep-breathing parameters obtained by overnight cardiorespiratory polygraphy in 13 adult PWS patients and 13 individuals with non-syndromic obesity as controls matched by age, sex, and BMI.

Methods

In all subjects’ anthropometric parameters, body composition using bioimpedance analysis and overnight cardiorespiratory monitoring parameters were obtained.

Results

Ten (76.9%) PWS patients were diagnosed with OSAS, most notably nine (69.2%) and one PWS (7.7%) with mild and severe OSAS, respectively. Compared with the control group, PWS patients had evidence of higher apnoea–hypopnea index (AHI) (p = 0.04) and oxyhaemoglobin desaturation index (ODI) (p = 0.009). However, no differences were found between the two groups regarding OSAS categories or diagnosis of nocturnal respiratory failure. In the PWS group, there were no significant correlations among AHI, ODI and hypoxemia index (T90) and anthropometric measurements, fat mass (FM), and FM percentage (%). Conversely, in the control group, the sleep-related respiratory indices evaluated correlated positively with BMI, waist circumference, FM and FM%.

Conclusions

This study confirmed that AHI and ODI indices were worse in PWS than in age, sex and BMI-matched controls. The lack of their significant association with the anthropometric parameters and FM supported the existence of PWS-related mechanisms in OSAS pathophysiology that are independent of visceral obesity and FM.
Literature
1.
2.
3.
Muscogiuri G, Barrea L, Faggiano F, Maiorino MI, Parrillo M, Pugliese G, Ruggeri RM, Scarano E, Savastano S, Colao A et al (2021) Obesity in Prader-Willi syndrome: physiopathological mechanisms, nutritional and pharmacological approaches. J Endocrinol Invest 44:2057–2070PubMedPubMedCentralCrossRef
4.
Muscogiuri G, Formoso G, Pugliese G, Ruggeri RM, Scarano E, Colao A, Restare, (2019) Prader-Willi syndrome: an uptodate on endocrine and metabolic complications. Rev Endocr Metab Disord 20:239–250PubMedCrossRef
5.
Theodoro MF, Talebizadeh Z, Butler MG (2006) Body composition and fatness patterns in Prader-Willi syndrome: comparison with simple obesity. Obesity (Silver Spring) 14:1685–1690CrossRef
6.
Bedogni G, Grugni G, Tringali G, Agosti F, Sartorio A (2015) Assessment of fat-free mass from bioelectrical impedance analysis in obese women with Prader-Willi syndrome. Ann Hum Biol 42:538–542PubMedCrossRef
7.
Cimolin V, Cau N, Galli M, Pau M, Parisio C, Saezza A, Grugni G, Capodaglio P (2021) Gait strategy and body composition in patients with Prader-Willi syndrome. Eat Weight Disord 26:115–124PubMedCrossRef
8.
Grugni G, Marzullo P, Delvecchio M, Iughetti L, Licenziati MR, Osimani S, Ragusa L, Salvatoni A, Sartorio A, Stagi S et al (2021) Stimulated GH levels during the transition phase in Prader-Willi syndrome. J Endocrinol Invest 44:1465–1474PubMedCrossRef
9.
Pugliese G, Barrea L, Laudisio D, Salzano C, Aprano S, Colao A, Savastano S, Muscogiuri G (2020) Sleep Apnea, obesity, and disturbed glucose homeostasis: epidemiologic evidence, biologic insights, and therapeutic strategies. Curr Obes Rep 9:30–38PubMedCrossRef
10.
Eckert DJ, White DP, Jordan AS, Malhotra A, Wellman A (2013) Defining phenotypic causes of obstructive sleep apnea. identification of novel therapeutic targets. Am J Respir Crit Care Med 188:996–1004PubMedPubMedCentralCrossRef
11.
Sateia MJ (2014) International classification of sleep disorders-third edition: highlights and modifications. Chest 146:1387–1394PubMedCrossRef
12.
13.
Masa JF, Corral J, Pereira R, Duran-Cantolla J, Cabello M, Hernandez-Blasco L, Monasterio C, Alonso A, Chiner E, Rubio M et al (2011) Effectiveness of home respiratory polygraphy for the diagnosis of sleep apnoea and hypopnoea syndrome. Thorax 66:567–573PubMedCrossRef
14.
Heinzer R, Vat S, Marques-Vidal P, Marti-Soler H, Andries D, Tobback N, Mooser V, Preisig M, Malhotra A, Waeber G et al (2015) Prevalence of sleep-disordered breathing in the general population: the HypnoLaus study. Lancet Respir Med 3:310–318PubMedPubMedCentralCrossRef
15.
Senaratna CV, Perret JL, Lodge CJ, Lowe AJ, Campbell BE, Matheson MC, Hamilton GS, Dharmage SC (2017) Prevalence of obstructive sleep apnea in the general population: a systematic review. Sleep Med Rev 34:70–81PubMedCrossRef
16.
Sedky K, Bennett DS, Pumariega A (2014) Prader Willi syndrome and obstructive sleep apnea: co-occurrence in the pediatric population. J Clin Sleep Med 10:403–409PubMedPubMedCentralCrossRef
17.
Hertz G, Cataletto M, Feinsilver SH, Angulo M (1993) Sleep and breathing patterns in patients with Prader Willi syndrome (PWS): effects of age and gender. Sleep 16:366–371PubMedCrossRef
18.
Lin HY, Lin SP, Lin CC, Tsai LP, Chen MR, Chuang CK, Huang CY (2007) Polysomnographic characteristics in patients with Prader-Willi syndrome. Pediatr Pulmonol 42:881–887PubMedCrossRef
19.
Canora A, Franzese A, Mozzillo E, Fattorusso V, Bocchino M, Sanduzzi A (2018) Severe obstructive sleep disorders in Prader-Willi syndrome patients in southern Italy. Eur J Pediatr 177:1367–1370PubMedCrossRef
20.
21.
Yee BJ, Buchanan PR, Mahadev S, Banerjee D, Liu PY, Phillips C, Loughnan G, Steinbeck K, Grunstein RR (2007) Assessment of sleep and breathing in adults with Prader-Willi syndrome: a case control series. J Clin Sleep Med 3:713–718PubMedPubMedCentralCrossRef
22.
23.
Manni R, Politini L, Nobili L, Ferrillo F, Livieri C, Veneselli E, Biancheri R, Martinetti M, Tartara A (2001) Hypersomnia in the Prader Willi syndrome: clinical-electrophysiological features and underlying factors. Clin Neurophysiol 112:800–805PubMedCrossRef
24.
Yaggi HK, Concato J, Kernan WN, Lichtman JH, Brass LM, Mohsenin V (2005) Obstructive sleep apnea as a risk factor for stroke and death. N Engl J Med 353:2034–2041PubMedCrossRef
25.
Stevenson DA, Anaya TM, Clayton-Smith J, Hall BD, Van Allen MI, Zori RT, Zackai EH, Frank G, Clericuzio CL (2004) Unexpected death and critical illness in Prader-Willi syndrome: report of ten individuals. Am J Med Genet A 124A:158–164PubMedCrossRef
26.
Barrea L, Annunziata G, Muscogiuri G, Laudisio D, Di Somma C, Maisto M, Tenore GC, Colao A, Savastano S (2019) Trimethylamine N-oxide, Mediterranean diet, and nutrition in healthy, normal-weight adults: also a matter of sex? Nutrition 62:7–17PubMedCrossRef
27.
Barrea L, Muscogiuri G, Di Somma C, Tramontano G, De Luca V, Illario M, Colao A, Savastano S (2019) Association between Mediterranean diet and hand grip strength in older adult women. Clin Nutr 38:721–729PubMedCrossRef
28.
Nishida C, Ko GT, Kumanyika S (2010) Body fat distribution and noncommunicable diseases in populations: overview of the 2008 WHO Expert Consultation on Waist Circumference and Waist-Hip Ratio. Eur J Clin Nutr 64:2–5PubMedCrossRef
29.
30.
Rosato E, Gigante A, Gasperini ML, Proietti L, Muscaritoli M (2021) Assessing malnutrition in systemic sclerosis with global leadership initiative on malnutrition and European Society of Clinical Nutrition and Metabolism Criteria. JPEN J Parenter Enteral Nutr 45:618–624PubMedCrossRef
31.
Kushner RF (1992) Bioelectrical impedance analysis: a review of principles and applications. J Am Coll Nutr 11:199–209PubMedCrossRef
32.
Gray DS, Bray GA, Gemayel N, Kaplan K (1989) Effect of obesity on bioelectrical impedance. Am J Clin Nutr 50:255–260PubMedCrossRef
33.
Bedogni G, Grugni G, Tringali G, Tamini S, Marzullo P, Sartorio A (2019) Assessment of fat-free mass from bioelectrical impedance analysis in men and women with Prader-Willi syndrome: cross-sectional study. Int J Food Sci Nutr 70:645–649PubMedCrossRef
34.
Lazzer S, Grugni G, Tringali G, Sartorio A (2016) Prediction of basal metabolic rate in patients with Prader-Willi syndrome. Eur J Clin Nutr 70:494–498PubMedCrossRef
35.
Barrea L, Pugliese G, de Alteriis G, Colao A, Savastano S, Muscogiuri G (2020) Phase angle: could be an easy tool to detect low-grade systemic inflammation in adults affected by Prader-Willi syndrome? Nutrients 12:2065PubMedCentralCrossRef
36.
Berry RB, Budhiraja R, Gottlieb DJ, Gozal D, Iber C, Kapur VK, Marcus CL, Mehra R, Parthasarathy S, Quan SF et al (2012) Rules for scoring respiratory events in sleep: update of the 2007 AASM manual for the scoring of sleep and associated events. Deliberations of the sleep apnea definitions task force of the American Academy of Sleep Medicine. J Clin Sleep Med 8:597–619PubMedPubMedCentralCrossRef
37.
Kapur VK, Auckley DH, Chowdhuri S, Kuhlmann DC, Mehra R, Ramar K, Harrod CG (2017) Clinical practice guideline for diagnostic testing for adult obstructive sleep apnea: an American Academy of Sleep Medicine Clinical Practice Guideline. J Clin Sleep Med 13:479–504PubMedPubMedCentralCrossRef
38.
Marzullo P, Marcassa C, Campini R, Eleuteri E, Minocci A, Priano L, Temporelli P, Sartorio A, Vettor R, Liuzzi A et al (2005) The impact of growth hormone/insulin-like growth factor-I axis and nocturnal breathing disorders on cardiovascular features of adult patients with Prader-Willi syndrome. J Clin Endocrinol Metab 90:5639–5646PubMedCrossRef
39.
Arens R, Gozal D, Omlin KJ, Livingston FR, Liu J, Keens TG, Ward SL (1994) Hypoxic and hypercapnic ventilatory responses in Prader-Willi syndrome. J Appl Physiol 1985(77):2224–2230CrossRef
40.
Zanella S, Watrin F, Mebarek S, Marly F, Roussel M, Gire C, Diene G, Tauber M, Muscatelli F, Hilaire G (2008) Necdin plays a role in the serotonergic modulation of the mouse respiratory network: implication for Prader-Willi syndrome. J Neurosci 28:1745–1755PubMedPubMedCentralCrossRef
41.
Pace M, Colombi I, Falappa M, Freschi A, Bandarabadi M, Armirotti A, Encarnacion BM, Adamantidis AR, Amici R, Cerri M et al (2020) Loss of Snord116 alters cortical neuronal activity in mice: a preclinical investigation of Prader-Willi syndrome. Hum Mol Genet 29:2051–2064PubMedCrossRef
42.
Cataldi M, Arnaldi D, Tucci V, De Carli F, Patti G, Napoli F, Pace M, Maghnie M, Nobili L (2021) Sleep disorders in Prader-Willi syndrome, evidence from animal models and humans. Sleep Med Rev 57:101432PubMedCrossRef
43.
Willie JT, Chemelli RM, Sinton CM, Yanagisawa M (2001) To eat or to sleep? Orexin in the regulation of feeding and wakefulness. Annu Rev Neurosci 24:429–458PubMedCrossRef
44.
Omokawa M, Ayabe T, Nagai T, Imanishi A, Omokawa A, Nishino S, Sagawa Y, Shimizu T, Kanbayashi T (2016) Decline of CSF orexin (hypocretin) levels in Prader-Willi syndrome. Am J Med Genet A 170A:1181–1186PubMedCrossRef
45.
Fronczek R, Lammers GJ, Balesar R, Unmehopa UA, Swaab DF (2005) The number of hypothalamic hypocretin (orexin) neurons is not affected in Prader-Willi syndrome. J Clin Endocrinol Metab 90:5466–5470PubMedCrossRef
46.
47.
Dergacheva O, Yamanaka A, Schwartz AR, Polotsky VY, Mendelowitz D (2016) Hypoxia and hypercapnia inhibit hypothalamic orexin neurons in rats. J Neurophysiol 116:2250–2259PubMedPubMedCentralCrossRef
48.
Fukushi I, Yokota S, Okada Y (2019) The role of the hypothalamus in modulation of respiration. Respir Physiol Neurobiol 265:172–179PubMedCrossRef
49.
Kuwaki T (2008) Orexinergic modulation of breathing across vigilance states. Respir Physiol Neurobiol 164:204–212PubMedCrossRef
50.
Williams K, Scheimann A, Sutton V, Hayslett E, Glaze DG (2008) Sleepiness and sleep disordered breathing in Prader-Willi syndrome: relationship to genotype, growth hormone therapy, and body composition. J Clin Sleep Med 4:111–118PubMedPubMedCentralCrossRef
51.
Pavone M, Caldarelli V, Khirani S, Colella M, Ramirez A, Aubertin G, Crino A, Brioude F, Gastaud F, Beydon N et al (2015) Sleep disordered breathing in patients with Prader-Willi syndrome: a multicenter study. Pediatr Pulmonol 50:1354–1359PubMedCrossRef
52.
Butler MG, Manzardo AM, Heinemann J, Loker C, Loker J (2017) Causes of death in Prader-Willi syndrome: Prader-Willi Syndrome Association (USA) 40-year mortality survey. Genet Med 19:635–642PubMedCrossRef
53.
Hamilton GS, Solin P, Naughton MT (2004) Obstructive sleep apnoea and cardiovascular disease. Intern Med J 34:420–426PubMedCrossRef
54.
Schrander-Stumpel CT, Curfs LM, Sastrowijoto P, Cassidy SB, Schrander JJ, Fryns JP (2004) Prader-Willi syndrome: causes of death in an international series of 27 cases. Am J Med Genet A 124A:333–338PubMedCrossRef
55.
Kawano H, Ikeda T, Shimazaki K, Arakawa S, Matsumoto Y, Hayano M, Maemura K (2013) Successful treatment of heart failure in an adult patient with Prader-Willi syndrome. Intern Med 52:771–776PubMedCrossRef
56.
Dodet P, Sanapo F, Leu-Semenescu S, Coupaye M, Bellicha A, Arnulf I, Poitou C, Redolfi S (2022) Sleep disorders in adults with Prader-Willi syndrome: review of the literature and clinical recommendations based on the experience of the French reference centre. J Clin Med 11:1986PubMedPubMedCentralCrossRef
57.
Clift S, Dahlitz M, Parkes JD (1994) Sleep apnoea in the Prader-Willi syndrome. J Sleep Res 3:121–126PubMedCrossRef
58.
Doshi A, Udwadia Z (2001) Prader-Willi syndrome with sleep disordered breathing: effect of two years nocturnal CPAP. Indian J Chest Dis Allied Sci 43:51–53PubMed
59.
Sforza E, Krieger J, Geisert J, Kurtz D (1991) Sleep and breathing abnormalities in a case of Prader-Willi syndrome. the effects of acute continuous positive airway pressure treatment. Acta Paediatr Scand 80:80–85PubMedCrossRef
60.
Savastano S, Belfiore A, Di Somma C, Mauriello C, Rossi A, Pizza G, De Rosa A, Prestieri G, Angrisani L, Colao A (2010) Validity of bioelectrical impedance analysis to estimate body composition changes after bariatric surgery in premenopausal morbidly women. Obes Surg 20:332–339PubMedCrossRef
Metadata
Title
Body composition and obstructive sleep apnoea assessment in adult patients with Prader–Willi syndrome: a case control study
Authors
G. Pugliese
L. Barrea
A. Sanduzzi Zamparelli
G. de Alteriis
D. Laudisio
G. Muscogiuri
A. Canora
M. Bocchino
A. Colao
S. Savastano
Publication date
01-10-2022
Publisher
Springer International Publishing
Published in
Journal of Endocrinological Investigation / Issue 10/2022
Electronic ISSN: 1720-8386
DOI
https://doi.org/10.1007/s40618-022-01831-5

Other articles of this Issue 10/2022

Journal of Endocrinological Investigation 10/2022 Go to the issue

Original Article

Graves’ disease induced by Alemtuzumab in relapsing–remitting multiple sclerosis patients: an observational study in a reference center

Original Article

Computerized tomography texture analysis of pheochromocytoma: relationship with hormonal and histopathological data

Original Article

A study on serum pro-neurotensin (PNT), furin, and zinc alpha-2-glycoprotein (ZAG) levels in patients with acromegaly

Retraction Note

Retraction Note to: Inhibition of microRNA‑875‑5p promotes radioiodine uptake in poorly differentiated thyroid carcinoma cells by upregulating sodium–iodide symporter

Original Article

COVID-19 lockdown negatively impacted on adherence to denosumab therapy: incidence of non-traumatic fractures and role of telemedicine

Original Article

Noncompliance to iodine supplementation recommendation is a risk factor for iodine insufficiency in Portuguese pregnant women: results from the IoMum cohort
Live Webinar | 27-06-2024 | 18:00 (CEST)

Keynote webinar | Spotlight on medication adherence

Reserve your place

Live: Thursday 27th June 2024, 18:00-19:30 (CEST)

WHO estimates that half of all patients worldwide are non-adherent to their prescribed medication. The consequences of poor adherence can be catastrophic, on both the individual and population level.

Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.

Prof. Kevin Dolgin
Prof. Florian Limbourg
Prof. Anoop Chauhan
Developed by: Springer Medicine
Obesity Clinical Trial Summary

At a glance: The STEP trials

Read more

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.

Developed by: Springer Medicine
Image Credits