A Case Of Prader-Willi Syndrome With Behavioural Disturbances: A Successful Multidisciplinary Management Approach

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
Keyword(s):  
Neurodevelopmental Disorder ◽  
Pressure Control ◽  
Family Therapist ◽  
Sleep Apnoea ◽  
Obstructive Sleep Apnoea Syndrome ◽  
Management Approach ◽  
Adolescent Psychiatrist ◽  
Prader Willi Syndrome ◽  
Obstructive Sleep ◽  
Genetically Determined

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.

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 ◽  
...  
Keyword(s):  
Tertiary Care ◽  
Upper Airway ◽  
Sleep Time ◽  
Sleep Apnoea ◽  
Obstructive Sleep Apnoea Syndrome ◽  
Prader Willi Syndrome ◽  
Z Score ◽  
Cross Sectional ◽  
Similar Frequency ◽  
Obstructive Sleep

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.

What Non-Alcoholic Fatty Liver Disease Has Got to Do with Obstructive Sleep Apnoea Syndrome and viceversa?

2014 ◽  
Vol 23 (3) ◽  
pp. 291-299 ◽  
Author(s):  
Giovanni Tarantino ◽  
Vincenzo Citro ◽  
Carmine Finelli
Keyword(s):  
Liver Disease ◽  
Fatty Liver ◽  
Obstructive Sleep Apnoea ◽  
Fatty Liver Disease ◽  
Sleep Apnoea ◽  
Obstructive Sleep Apnoea Syndrome ◽  
Alcoholic Fatty Liver ◽  
Sleep Apnoea Syndrome ◽  
Obstructive Sleep ◽  
Alcoholic Fatty Liver Disease

Non-alcoholic fatty liver disease (NAFLD) and obstructive sleep apnoea syndrome (OSAS) are common conditions, frequently encountered in patients with obesity and/or metabolic syndrome. NAFLD and OSAS are complex diseases that involve an interaction of several intertwined factors. Several lines of evidence lend credence to an immune system derangement in these patients, i.e. the low grade chronic inflammation status, reckoned to be the most important factor in causing and maintaining these two illnesses. Furthermore, it is emphasized the main role of spleen involvement, as a novel mechanism. In this review the contribution of the visceral adiposity in both NAFLD and OSAS is stressed as well as the role of intermittent hypoxia. Finally, a post on the prevention of systemic inflammation is made.Abbreviations: ALT: alanine aminotransferase; BMI: body mass index; CCR2: chemokine (C-C motif) receptor 2; CRP: C-reactive protein; CPAP: continuous positive airway pressure; FFA: free fatty acid; IGF-I: insulin-like growth factor; IR: insulin resistance; IL-6: interleukin-6; IH: intermittent hypoxia; IKK-β: IκB kinase β; LPS: lipopolysaccharide; MCP-1: monocyte chemoattractant protein-1; NAFLD: non-alcoholic fatty liver disease; NASH: nonalcoholic steatohepatitis; NEFA: non-esterified fatty acid; NF-κB: nuclear factor-κB; OSAS: obstructive sleep apnoea syndrome; PAI-1: plasminogen activator inhibitor-1; ROS: reactive oxygen species; TNF-α: tumor necrosis factor-α; T2D: type 2 diabetes.

Relationship Between Obstructive Sleep Apnoea, Oxygen Desaturation and Cardiovascular Risk

2019 ◽  
Vol 70 (10) ◽  
pp. 3582-3586
Keyword(s):  
Risk Factors ◽  
Coronary Heart Disease ◽  
Heart Disease ◽  
Cardiovascular Risk ◽  
Obstructive Sleep Apnoea ◽  
Cardiovascular Events ◽  
Sleep Apnoea ◽  
Oxygen Desaturation ◽  
Obstructive Sleep Apnoea Syndrome ◽  
Obstructive Sleep

Obstructive sleep apnoea syndrome (OSAS) increases the risk cardiovascular events regardless of the presence of previous cardiovascular disease. As both OSAS and coronary heart disease (CHD) have same risk factors it’s often difficult to quantify the proportion of each risk factor in developing cardiac events. The aim of this study was to evaluate the 10-year risk of developing a coronary heart disease (CHD) event or stroke in newly diagnosed OSAS patients. 65 patients diagnosed with OSAS over a period of four months in Oradea Sleep Laboratory were included. Demographic characteristics, anthropometric parameters, clinical and biochemical data, sleep disorder and daytime sleepiness assessment, results of polysomnography were collected in all patients. In 55 selected patients by age range from 34 to 74 years old, cardiovascular risk was assessed using Framingham score calculator. Statistical analysis was performed using SPSS-PC version 7.5 and Stata 10.The estimated 10-years risk of a CHD event was 18.97% (± 9.67) in all cases. It was higher in men (22.17% ± 9.24) compare to women (12.39% ± 6.92) and it was not significantly different by stages of OSAS severity (20.58% ±9.41 in patients with severe OSAS versus 15.4% in mild OSAS), suggesting that apnea hypopnea index is not a major confounding factor. Desaturation of oxygen is a better outcome to define the relation between OSAS and cardiovascular diseases. OSAS and cardiovascular risk factors increased risk for future adverse cardiovascular events related to the severity of oxygen desaturation. Keywords: obstructive sleep apnoea syndrome, cardiovascular events, risk factors, oxygen desaturation

scholarly journals Paediatric Sleep Questionnaire for Obstructive Sleep Apnoea Syndrome Screening: Is Sleep Quality Worthy of Note?

2021 ◽  
Vol 11 (4) ◽  
pp. 1440 ◽  
Author(s):  
Vera Panzarella ◽  
Giovanna Giuliana ◽  
Paola Spinuzza ◽  
Gaetano La Mantia ◽  
Laura Maniscalco ◽  
...  
Keyword(s):  
Sleep Quality ◽  
Obstructive Sleep Apnoea ◽  
Sleep Apnoea ◽  
Screening Tools ◽  
Obstructive Sleep Apnoea Syndrome ◽  
P Value ◽  
Predictive Values ◽  
Sleep Questionnaire ◽  
Sleep Apnoea Syndrome ◽  
Obstructive Sleep

Obstructive sleep apnoea syndrome (OSAS) is the most severe condition on the spectrum of sleep-related breathing disorders (SRBDs). The Paediatric Sleep Questionnaire (PSQ) is one of the most used and validated screening tools, but it lacks the comprehensive assessment of some determinants of OSAS, specifically anamnestic assessment and sleep quality. This study aims to assess the accuracy of some specific items added to the original PSQ, particularly related to the patient’s anamnestic history and to the quality of sleep, for the screening of OSAS in a paediatric population living in Sicily (Italy). Fifteen specific items, divided into “anamnestic” and “related to sleep quality” were added to the original PSQ. The whole questionnaire was administered via a digital form to the parents of children at 4 schools (age range: 3–13 years). For each item, sensitivity and specificity, positive and negative predictive values, and positive and negative likelihood ratios were calculated. The highest sensitivity (80.0, 95% CI: 28.4; 99.5), in combination with the highest specificity (61.1, 95% CI: 35.7; 82.7), was found for the Item 32 (“assumption of bizarre or abnormal positions during sleep”). This item was found statistically significant for predicting the occurrence of OSAS in children (p-value ≤0.003). The study demonstrates the accuracy of specific items related to sleep quality disturbance for the preliminary assessment of the disease. Although these results should be validated on a larger sample of subjects, they suggest that including the factors discriminating sleep quality could further increase the efficiency and accuracy of PSQ.

Sign in / Sign up

Export Citation Format

Share Document