Hypoventilation disproportionate to OSAS severity in children with Prader-Willi syndrome

2018 ◽  
Vol 104 (2) ◽  
pp. 166-171 ◽  
Author(s):  
Francois Abel ◽  
Hui-Leng Tan ◽  
Valentina Negro ◽  
Nicola Bridges ◽  
Thomas Carlisle ◽  
...  

ObjectiveTo test the hypothesis that children with Prader-Willi syndrome (PWS) and obstructive sleep apnoea syndrome (OSAS) have hypercapnia for higher proportion of total sleep time (TST) than non-syndromic children with similar obstructive apnoea–hypopnoea index (OAHI).DesignCross-sectional study.SettingTwo tertiary care hospitals.PatientsPatients with PWS and non-syndromic children with snoring who underwent polygraphy and were of similar age, body mass index (BMI) z-score and OAHI.Main outcome measureThe two groups were compared regarding %TST with transcutaneous CO2 (PtcCO2) >50 mm Hg. The interaction between PWS diagnosis and OSAS severity (OAHI <1 episode/h vs 1–5 episodes/h vs >5 episodes/h) regarding %TST with PtcCO2 >50 mm Hg was tested using multiple linear regression.Results48 children with PWS and 92 controls were included (median age 2.3 (range 0.2–14.1) years vs 2.2 (0.3–15.1) years; BMI z-score 0.7±1.9 vs 0.8±1.7; median OAHI 0.5 (0–29.5) episodes/h vs 0.5 (0–33.9) episodes/h; p>0.05). The two groups did not differ in %TST with PtcCO2 >50 mm Hg (median 0% (0–100%) vs 0% (0–81.3%), respectively; p>0.05). However, the interaction between PWS and OSAS severity with respect to duration of hypoventilation was significant (p<0.01); the estimated mean differences of %TST with PtcCO2 >50 mm Hg between children with PWS and controls for OAHI <1 episode/h, 1–5 episodes/h and >5 episodes/h were +0.2%, +1% and +33%, respectively.ConclusionIncreasing severity of upper airway obstruction during sleep in children with PWS is accompanied by disproportionately longer periods of hypoventilation when compared with non-syndromic children with similar frequency of obstructive events.

Author(s):  
Siddalingaiah H.S. ◽  
Chandrakala D. ◽  
Amarjeet Singh

Background: Sleep problems are a major concern in population working under stress such as resident doctors. Sleep has many health benefits; sleep problems are linked with short and long term adverse health outcomes. Aim was to study sleep pattern, problems and comorbidities among resident doctors. Methods: A cross-sectional study design with a pre-validated sleep assessment proforma was used to collect information on socio-demographics, sleep pattern, sleep problems and comorbidities from 428 resident doctors found eligible for the study. Results: 350 subjects returned the filled proforma (82% response rate). Mean daily sleep hours were 6.21 (SD, 1.39) and work hours 12.77 (SD, 3.63). Sleep time was night in 64.6%, day in 12%, and both in 23.4%. Monthly average of 5.8 night shifts and 2.03 duty offs were found. Visual analogue scale (0-10) mean scores for sleepiness and tiredness were 4.41 (SD, 2.55; 95% CI, 4.14-4.68; P<0.01) and 4.73 (SD, 2.62; 95% CI, 4.45-5.00; P<0.01) respectively. Presence of different symptoms related to sleep problems ranged from 7 to 26% and various problems interfering with sleep ranged from 10 to 25%. Comorbidities such as allergy (29.4%), jerky legs (24.3%), sinus infections (22.8%), restless leg syndrome (16.3%), snoring (8.3%), asthma/lung diseases (5.8%), chronic diseases (3.4%), severe snoring disturbing others (1.8%), and obstructive sleep apnoea (0.9%) were present. Conclusions: Sleep problems were highly prevalent among resident doctors. The resident doctors were sleep-deprived, overworked, tired, excessively sleepy, and had significant presence of factors affecting circadian rhythm and sleep fragmentation. Various comorbidities were also present with varying prevalence. 


2020 ◽  
Vol 5 (1) ◽  
pp. 83
Author(s):  
Nor Jannah Nasution Raduan ◽  
Mohd Razali Salleh ◽  
Norharlina Bahar ◽  
Mohd Faiz Md Tahir ◽  
Najwa Hanim Md Rosli

Prader-Willi Syndrome (PWS) is a genetically determined neurodevelopmental disorder occurring in 1 in 15,000 births. PWS is a rare case in Malaysia and a successful approach to its management has not been well reported here. We present a case of a 13-year-old boy with Prader-Willi Syndrome with prominent behavioural disturbances characterised by temper tantrums, compulsive food intake, stubbornness, stealing and impulsivity further complicated by underlying morbid obesity, poorly controlled type 2 diabetes mellitus, hypertension, dyslipidaemia, obstructive sleep apnoea syndrome and intellectual disability. Multidisciplinary approach involving child and adolescent psychiatrist, occupational therapist, counsellor, family therapist, endocrinologist and dietician has shown to improve the patient’s weight, glucose and blood pressure control and most importantly the behavioural disturbances.


2016 ◽  
Vol 2 (3) ◽  
pp. 00043-2016 ◽  
Author(s):  
Christian Guilleminault ◽  
Shehlanoor Huseni ◽  
Lauren Lo

A short lingual frenulum has been associated with difficulties in sucking, swallowing and speech. The oral dysfunction induced by a short lingual frenulum can lead to oral-facial dysmorphosis, which decreases the size of upper airway support. Such progressive change increases the risk of upper airway collapsibility during sleep.Clinical investigation of the oral cavity was conducted as a part of a clinical evaluation of children suspected of having sleep disordered breathing (SDB) based on complaints, symptoms and signs. Systematic polysomnographic evaluation followed the clinical examination. A retrospective analysis of 150 successively seen children suspected of having SDB was performed, in addition to a comparison of the findings between children with and without short lingual frenula.Among the children, two groups of obstructive sleep apnoea syndrome (OSAS) were found: 1) absence of adenotonsils enlargement and short frenula (n=63); and 2) normal frenula and enlarged adenotonsils (n=87). Children in the first group had significantly more abnormal oral anatomy findings, and a positive family of short frenulum and SDB was documented in at least one direct family member in 60 cases.A short lingual frenulum left untreated at birth is associated with OSAS at later age, and a systematic screening for the syndrome should be conducted when this anatomical abnormality is recognised.


2019 ◽  
Vol 133 (05) ◽  
pp. 376-379 ◽  
Author(s):  
A Yenigun ◽  
N Degirmenci ◽  
S S Goktas ◽  
R Dogan ◽  
O Ozturan

AbstractObjectiveThis study investigated the relationship between disease severity and taste and smell functions in patients with obstructive sleep apnoea syndrome.MethodsA total of 65 patients with recurrent upper airway obstruction during sleep were included. Participants were divided into four groups according to apnoea-hypopnoea index, obtained on polysomnography. Smell and taste tests were performed on these patients.ResultsA significant difference was observed between the smell thresholds of the groups for the identification test (p = 0.016). In the taste test, significant differences were observed between the groups in terms of sweet, sour, salty and bitter taste test thresholds (p = 0.029, p = 0.0005, p = 0.001 and p = 0.017, respectively).ConclusionAs sleep apnoea severity increased (according to the apnoea-hypopnoea index) in obstructive sleep apnoea syndrome patients, the taste and smell thresholds decreased due to the effect of neuropathy and inflammation in the upper respiratory tract.


2020 ◽  
Vol 4 (1) ◽  
Author(s):  
Ozaifa Kareem ◽  
Masood Tanvir ◽  
G. N. Bader

Abstract Background Obstructive Sleep Apnoea (OSA), a condition characterized by a complete or partial cessation of airflow during sleep, can cause various cardiovascular disorders including hypertension. The aim of the study was to determine the prevalence of OSA in patients with hypertension. Methods A cross-sectional prospective cohort study of 504 patients with hypertension was undertaken at a tertiary care hospital of India for a period of 6 months. OSA was evaluated using the Berlin questionnaire while the daytime sleepiness was determined using Epworth Sleepiness Scale. Data analysis was done using SPSS v. 20. Results High risk of OSA was identified in 120 (23.8%) patients and the prevalence of sleepiness (Epworth Sleepiness score >16) was found to be 32.5% (95% CI, p < 0.001) in these patients. The mean neck circumference, waist circumference and waist-to-hip ratio for high-risk OSA group were 37.41 ± 3.396 cm, 105.90 ± 11.28 cm and 1.01 ± 0.065 respectively while for the low-risk group, these parameters were 35.45 ± 2.652 cm, 98.75 ± 10.87 cm and 0.99 ± 0.080 respectively (95% CI, p<0.001). The mean blood pressure (BP) ≥133.52/84.37 mmHg was recorded in patients with a high risk of OSA (95% CI, P < 0.05), and resistant hypertension (3.3%) was significantly associated with the risk of OSA (95% CI, P < 0.05). Conclusion In the tertiary health care setting, the prevalence of high-risk of OSA in patients with hypertension is high. Screening for OSA should be a part of the hypertensive medical investigation and patients may benefit from a proper evaluation of OSA.


2004 ◽  
Vol 106 (6) ◽  
pp. 563-565 ◽  
Author(s):  
Ramon FARRÉ

Patients suffering from the obstructive sleep apnoea syndrome (OSAS) experience nocturnal episodes of upper airway obstruction resulting in recurrent oxygen desaturations and arousals. Methods to quantify the nocturnal obstructive events are of interest for characterizing this prevalent sleep disorder. In a study published in this issue of Clinical Science, Bloch and co-workers propose the computation of a new index for objectively quantifying the degree of flow limitation in patients with OSAS. The results obtained in a bench test and in a pilot study in patients suggest that the flow limitation index proposed may help to better characterize the disturbed breathing events undergone by patients with OSAS.


2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1941.1-1942
Author(s):  
P. Kachur ◽  
S. Tadepalli ◽  
C. Pramil

Background:Sleep deprivation and sleep inconsistency have been associated with modulation of the immune and inflammatory response systems with effects that include higher risk for psychosis, cardiovascular disease, and increased susceptibility to infection. One hypothesized mechanism to explain these findings is an association with pro-inflammatory states.Objectives:In a first-of-its kind study, we examined associations between sleep quantity and gout using the largest public US dataset available; the National Health and Nutrition Examination Survey (NHANES).Methods:NHANES data from 2009 to 2014 was selected based on questionnaire responses and laboratory studies. The resulting data set was analyzed for serum uric acid (SUA) levels (cut-off >6.0 mg/dL in females and >7.0 mg/dL in males), and gout risk factors. Analysis of variance, means, proportions, as well as univariate and multiple logistic regression models were used to evaluate the associations between sleep quantity, SUA and gout.Results:10,410 survey participants from 2003 to 2014 were included in the study. A total of 280 (2.7%) had gout. Gout prevalence ranged between 4.0% and 4.7% between high, normal, and low sleep groups. Multivariate analyses showed a significant association between extremely low sleep levels (OR = 0.53 and CI = 0.34 to 0.83), and gout, which was also seen with SUA level association (OR = 0.41 and CI = 0.32 to 0.52). However, in the broader sense, lower than normal (<7 hours) and higher than normal (>9 hours) levels of sleep had no significant associations with either gout prevalence or SUA, likely due to a non-linear relationship of SUA to sleep levels.Conclusion:Despite numerous adverse effects found with low sleep levels, our study does not show a strong association between sleep quantity and gout prevalence or SUA levels.References:[1]Hasday et al. “Nocturnal increase of urinary uric acid: creatinine ration. A biological correlate of sleep-associated hypoxemia.” AM Rev Respir Dis 1981, 135:534[2]Lavie, Lena. “Obstructive sleep apnoea syndrome-an oxidative stress disorder” Sleep Medicine Reviews 2003, 7:351[3]Roddy et al. “The Association of Gout with Sleep Disorders: a cross-sectional study in primary care.”BMC Musculoskeletal Disorders 2013, 14:119[4]Sahebjani H. “Changes in urinary uric acid excretion in obstructive sleep apean before and after therapy with nasal continuous positive airway pressure.” Chest 1998’ 113: 1604[5]Taheri et al. “Short Sleep Duration is Associated with Reduced Leptin, Elevated Ghrelin, and Increased Body Mass Index” PLOS Medicine 2004, 1:210Disclosure of Interests:None declared


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