[Show abstract][Hide abstract] ABSTRACT: Although sleep abnormalities in general and sleep-related breathing disorders (SBD) in particular are quite common in healthy children; their presence is notably under-recognized. Impaired sleep is a frequent problem in subjects with inborn errors of metabolism as well as in a variety of genetic disorders; however, they are commonly either missed or underestimated. Moreover, the complex clinical presentation and the frequently life-threatening symptoms are so overwhelming that sleep and its quality may be easily dismissed. Even centers, which specialize in rare genetic-metabolic disorders, are expected to see only few patients with a particular syndrome, a fact that significantly contributes to the under-diagnosis and treatment of impaired sleep in this particular population. Many of those patients suffer from reduced life quality associated with a variable degree of cognitive impairment, which may be worsened by poor sleep and abnormal ventilation during sleep, abnormalities which can be alleviated by proper treatment. Even when such problems are detected, there is a paucity of publications on sleep and breathing characteristics of such patients that the treating physician can refer to. In the present paper, we provide an overview of sleep and breathing characteristics in a number of rare genetic-metabolic disorders with the hope that it will serve as a reminder for the medical professional to look for possible impaired sleep and SBD in their patients and when present to apply the appropriate evaluation and treatment options.
[Show abstract][Hide abstract] ABSTRACT: Obstructive sleep apnea (OSA) is a sleep disorder which has been gradually accepted as an important cause of increased morbidity and mortality. The treatment of moderate-severe OSA has improved dramatically since the introduction of continuous positive airway pressure (CPAP) devices; however, the adherence of patients to CPAP treatment is relatively low. Adherence appears to be even worse in patients with mild or asymptomatic OSA. The failure to identify and treat mildly symptomatic or asymptomatic OSA patients may be costly, as such patients comprise about 20% of the general adult population. OSA patients could be divided into positional and non-positional patients. Positional patients show most of their breathing abnormalities while sleeping in the supine position. Simply, by sleeping in the lateral postures, they eliminate or reduce significantly the number of apneas and hypopneas. On the contrary, non-positional patients suffer from breathing abnormalities in the supine and lateral postures, and as a consequence those are the most severe OSA patients for whom CPAP is the treatment of choice. In this paper we intend to argue that positional therapy, i.e. avoidance of the supine posture during sleep, could represent a valuable therapy mainly for mild-moderate OSA. Considering the fact that the vast majority of mild-moderate OSA patients are positional patients (between 65 and 87%), positional therapy may be a simple, cheap and effective solution for them. High-quality research regarding this issue is needed to evaluate the real effectiveness of this mode of therapy.
Journal of Sleep Research 10/2013; · 3.04 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Periodic limb movements (PLM) during sleep are believed to be under the control of the sympathetic nervous system and may cause interrupted sleep and daytime sleepiness. The present case highlights the close relationship between PLM and significant heart rate changes independent of the presence of arousals. Thus, in addition to the already known deleterious effect on sleep continuity, moderate-severe PLM may also affect cardiovascular health.
Journal of clinical sleep medicine: JCSM: official publication of the American Academy of Sleep Medicine 01/2012; 8(4):447-9. · 2.93 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: The aim of this work was to study the relationship between changes of body posture dominance and changes of body weight overtime in adults with obstructive sleep apnoea. The participants were 112 non-treated adults with obstructive sleep apnoea who underwent two polysomnographic evaluations at our Sleep Disorders Unit during an average of 6.2years interval. Positional patients - having most of their breathing abnormalities in the supine posture and who became non-positional patients - had a significant gain in weight and a significant increase in apnoea-hypopnoea index, mainly in lateral apnoea-hypopnoea index. On the contrary, non-positional patients who became positional patients had a significant decrease in weight (but less than the increase in weight of positional patients who became non-positional patients) and showed a significant improvement in apnoea-hypopnoea index, again mainly in lateral apnoea-hypopnoea index. These non-positional patients who became positional patients initially had a less severe disease, as judged by apnoea-hypopnoea index, lateral apnoea-hypopnoea index and minimum SaO(2) during non-rapid eye movement sleep, and were less obese than non-positional patients who remained non-positional patients. The later were the patients who showed initially the worst disease and were more obese than the rest of the patients, and their condition did not change significantly over time. Non-positional patients who converted to positional patients showed a decrease in body weight and improvement of obstructive sleep apnoea, while positional patients who converted to non-positional patients showed an increase in body weight and worsening of obstructive sleep apnoea. It appears that weight changes have a modulatory effect on positional dominance, and lateral apnoea-hypopnoea index appears to be a sensitive parameter of these changes.
Journal of Sleep Research 12/2011; 21(4):402-9. · 3.04 Impact Factor