French consensus: Augmentation syndrome in restless legs syndrome.

Augmentation syndrome is one of the most severe complications of RLS. It is characterised by a worsening of treated symptoms; principally an increase in the severity of symptoms and an earlier onset time. Augmentation syndrome occurs primarily with dopaminergic treatments. It is crucial for the patient to be sufficiently well informed to prevent its occurrence and the prescription of too high doses of dopaminergic agonists avoided. In the presence of augmentation syndrome confirmed using the diagnostic criteria, the specialist treating the restless legs syndrome should quickly modify the patient's treatment. In this article, our expert group proposes a practical strategy for the diagnosis, prevention and treatment of augmentation syndrome.

French Consensus: How to diagnose restless legs syndrome.

Correct diagnosis of restless legs syndrome (RLS) is essential to patient care and treatment. Diagnosis is most often clinical and based on diagnostic criteria: the need to move the legs accompanied to varying degrees by unpleasant sensations, predominantly during the evening and improved by movement. In rare cases, clinical examination is insufficient and a polysomnography is necessary. Once a positive diagnosis has been made, a neurological examination and an assessment of iron status are required. The severity of the RLS must be evaluated to determine whether a specific treatment is necessary. Before treatment, it is essential to ensure that a definite diagnosis of RLS has been made and the phenotype characterised. This enables a personal treatment plan and limits the risk of augmentation syndrome.

French consensus: Treatment of newly diagnosed restless legs syndrome.

Treatment of restless legs syndrome (RLS) must only be considered after a definite positive diagnosis. The RLS phenotype must be characterised precisely, iron deficiency always tested for, and aggravating factors eliminated when possible. Medical treatment is considered for severe or very severe forms and based on dopaminergic agonists, α2δ-1 ligands and/or opioids. First line treatment will be a low-dose monotherapy and the choice of treatment depends on the results of the clinical examination and investigations.

French consensus: Pharmacoresistant restless legs syndrome.

Dopaminergic agonists, α2δ ligands and opioids are, as single-drug therapy, the first line treatment for restless legs syndrome (RLS/Willis-Ekbom disease). However, despite treatment efficacy, exacerbations of RLS may occur with overall worsening in symptoms severity, development of pain and symptoms spreading to other parts of the body, without meeting augmentation syndrome criteria. This development of "drug-resistant" RLS can cause pain, severe insomnia and psychiatric disorders that affect considerably patients' quality of life. The lack of French recommendations for this form of RLS leave physicians with few options to help patients with physical and emotional distress. Our group of neurological experts and sleep specialists proposes a diagnostic and therapeutic strategy to provide better care and appropriate treatment through searching for the organic, psychiatric and/or iatrogenic causes of drug resistance. Once a drug-resistant RLS diagnosis has been confirmed, we recommend an obligatory work-up including: a video-polysomnogram, a biological evaluation including iron status, standard numeration and C-reactive protein level. Treatment will be comorbidity-dependent: dopaminergic agonist would be recommended in case of depression or associated periodic leg movements, α2δ ligand in case of insomnia, complaint of pain, or general anxiety, in association with low-dose opioids if necessary. Strong opioids should be preferred for multiresistant RLS.

French consensus. Type 1 and type 2 Narcolepsy: Investigations and follow-up.

In the new international classification of sleep disorders (ICSD-3), narcolepsy is differentiated into two distinct pathologies: type 1 narcolepsy (NT1) and type 2 narcolepsy (NT2). NT1 is characterised by periods of an irrepressible need to sleep, cataplexy (a sudden loss of muscle tone triggered by emotion) and in some cases the presence of symptoms such as hypnagogic hallucinations, sleep paralysis and disturbed night-time sleep. Its physiopathology is based on the loss of hypocretin neurons in the hypothalamus, seemingly connected to an auto-immune process. By definition, cataplexy is absent and the hypocretin levels in the CSF are normal in NT2. Confirming the diagnosis requires polysomnography and multiple sleep latency tests. The choice of further investigations is based on the presence or absence of typical cataplexy. Further investigations include HLA typing, lumbar puncture to measure the hypocretin level in the CSF, or even brain imagery in the case of narcolepsy suspected to be secondary to an underlying pathology. In this consensus we propose recommendations for the work-up to be carried out during diagnosis and follow-up for patients suffering from narcolepsy.

Implementation and Benefit Evaluation of Recommendations for Patient Safety in Ambulatory Surgical Care.

Objective: The aim of this study was to evaluate the degree of implementation of recommendations for patient safety in ambulatory surgical care and their benefit as perceived by surgeons in the ambulatory sector. Based on 2 practice recommendations issued by the Association of Statutory Health Insurance Physicians in Westphalia-Lippe, recommendations were formulated specifically for ambulatory surgery and distributed in 2013 to all physicians licensed to conduct ambulatory surgery in Westphalia-Lippe. Methods: We conducted a written survey covering all safety measures addressed by the 2 practice recommendations and assessed the degree of implementation and the perceived benefit for each of these measures as well as the strengths of the recommendations and the challenges of implementing them. The survey was distributed in late 2014 to 2 454 surgeons in the ambulatory setting. The survey period was 7 weeks. The analysis of the quantitative data was mainly descriptive and we conducted thematic summaries of free text answers to open-ended questions. Results: The participation rate was 17% (n=405). The recommendations were known to 86% of the respondents. The majority of recommended safety measures had been implemented systemically in more than 50% of the participating institutions. An increased interprofessional awareness of patient safety measurements was reported as the main impact of the recommendations. Respondents indicated further need for information and practice recommendations concerning the following topics: risk and error management, implementation of the Medical Devices Act, hygiene in medical practice and processing of instruments. Conclusion: This study highlights the valuable contribution practice recommendations can make to patient safety improvement in ambulatory surgical care. Their dissemination to other regions as well as to other ambulatory care settings such as family practice can therefore be recommended.

Management of obstructive sleep apnea syndrome type 1 in children and adolescents - A French consensus.

This document is the outcome of a group of experts brought together at the request of the French Society of Sleep Research and Medicine to provide recommendations for the management of obstructive sleep apnea syndrome type 1 (OSA1) in children. The recommendations are based on shared experience and published literature. OSA1 is suspected when several nighttime respiratory symptoms related to upper airway obstruction are identified on clinical history taking. A specialist otolaryngologist examination, including nasofibroscopy, is essential during diagnosis. A sleep study for OSA1 is not mandatory when at least two nighttime symptoms (including snoring) are noted. Therapeutic management must be individualized according to the location of the obstruction. Ear, nose, and throat (ENT) surgery is often required, as hypertrophy of the lymphoid tissues is the main cause of OSA1 in children. According to clinical findings, orthodontic treatment generally associated with specialized orofacial-myofunctional therapy might also be indicated. Whatever treatment is chosen, follow-up must be continuous and multidisciplinary, in a network of trained specialists.

Dramatic impact of morbid obesity on child lung development.

OBJECTIVE: To assess the respiratory function and sleep characteristics of obese adults and children. METHODS: All patients with non-syndromic, severe obesity (BMI ≥3 z-scores for children and ≥40.00kg/m2 for adults), referred for pulmonary function tests at Lille University Hospital, were retrospectively included. RESULTS: A total of 69 children (mean±SD BMI 36.8±6.7 and mean BMI z-score 4.7±1.0) and 70 adults were included (mean BMI 45.7±6.2). Metabolic syndrome was diagnosed in 13 children (26%) and 40 adults (80%). Reduced lung volumes were observed in 34 children (50.0%) and 16 adults (24.0%) and both the mean functional residual capacity (FRC) and the mean residual volume (RV) were lower in children than in adults (FRC: -1.7±2.1 z-score in children vs. -1.0±1.1 in adults, P=0.026; and RV: -0.8±1.2 z-score in children vs. -0.1±1.1 in adults, P=0.002). The prevalence of severe obstructive sleep apnea syndrome was greater in adults (40.7% vs. 18.8%, P=0.007). Children had a higher average oxygen saturation (median of 96.0% [91.0-98.0] vs. 93.0% [76.0-97.0] in adults, P<0.0001). CONCLUSION: Obesity has consequences for lung volumes in children; however, a longitudinal study is needed to determine the impact on pulmonary expansion and growth.

Childhood-onset narcolepsy, obesity and puberty in four consecutive children: a close temporal link.

Narcolepsy is a rare but disabling condition that causes excessive daytime sleepiness. Interestingly, weight gain is frequent in patients with narcolepsy and it has sometimes been described very early in the course of the disease. Here, we report four consecutive obese children who were referred to our sleep laboratory for excessive daytime sleepiness and suspected sleep apnoea syndrome. They underwent nocturnal polysomnography associated with multiple sleep latency tests. Narcolepsy was diagnosed in all children with a close temporal link between the onset of narcolepsy, obesity and puberty. Scientifically, the relationship between sleep, weight, growth rate and puberty onset is striking and merits further investigation. From the clinical point of view, narcolepsy must be investigated in obese sleepy children along with obstructive sleep apnoea. Indeed, it can be controlled with appropriate treatment but the proper diagnosis relies not only upon nocturnal polysomnography but involves the systematic use of multiple sleep latency tests.

Obstructive sleep apnea in obese pregnant women: A prospective study.

OBJECTIVE: Define the prevalence of OSA in a population of obese pregnant women. Secondary objectives were to assess its obstetric consequences and define its risk factors in this population. METHODS: This single-center prospective study took place at the Lille University Hospital from 2010 to 2016 and included pregnant women with a body mass index (BMI) > 35 kg/m2. They underwent polysomnography (type 1 sleep testing) between 24 and 32 weeks of gestation to diagnose OSA. Clinical, obstetric, and fetal data were collected monthly and at delivery. We compared the groups with and without OSA and calculated its prevalence. RESULTS: This study included 67 women with a mean BMI of 42.4 ± 6.2 kg/m2. Among them, 29 had OSA, for a prevalence of 43.3% (95% confidence interval, 31.4-55.2); it was mild or moderate in 25 women and severe in 4. Comparison of the two groups showed that women in the OSA group were older (31.9 ± 4.7 years vs 29.5 ± 4.8 years, P = .045), had chronic hypertension more frequently (37.9% vs 7.9%, P = .0027), and had a higher mean BMI (43.8 ± 6.2 kg/m2 vs 41.2 ± 6 kg/m2, P = .045). During pregnancy, they developed gestational diabetes more often (48.3% vs 23.7%, P = .04). No significant differences were observed for any of the other criteria studied. CONCLUSIONS: The prevalence of OSA was high in our study, and women with it developed gestational diabetes during pregnancy more often. No other obstetric complications were observed.

Delayed Eruption of Permanent Dentition and Maxillary Contraction in Patients with Cleidocranial Dysplasia: Review and Report of a Family.

INTRODUCTION: Cleidocranial dysplasia (CCD) is an inherited disease caused by mutations in the RUNX2 gene on chromosome 6p21. This pathology, autosomal dominant or caused by a spontaneous genetic mutation, is present in one in one million individuals, with complete penetrance and widely variable expressivity. AIM: To identify the incidence of these clinical findings in the report of the literature by means of PubMed interface from 2002 to 2015, with the related keywords. The report of local patients presents a clinical example, related to the therapeutic approach. RESULTS AND DISCUSSIONS: The PubMed research resulted in 122 articles. All the typical signs were reported in all presented cases. The maxilla was hypoplastic in 94% of the patients. Missing of permanent teeth was found in two cases: one case presented a class II jaw relationship, instead of class III malocclusion. Similar findings were present in our cohort. CONCLUSION: CCD is challenging for both the dental team and the patient. The treatment requires a multidisciplinary approach. Further studies are required to better understand the cause of this disease. According to this review, a multistep approach enhances the possibilities to achieve the recovery of the most possible number of teeth, as such to obtain a good occlusion and a better aesthetic.

Sleep and vigilance in corticobasal degeneration: a descriptive study.

INTRODUCTION: Sleep disorders are common in extrapyramidal diseases, but have rarely been demonstrated in corticobasal degeneration (CBD). METHODS: Here, we describe sleep and vigilance in five consecutive patients with CBD. RESULTS: All five patients had insomnia, four displayed periodic limb movements during sleep (PLMS) and/or restless leg syndrome (RLS), and two had sleep respiratory disorders. None had REM sleep behaviour disorders or excessive daytime sleepiness. CONCLUSIONS: Polysomnography is useful for diagnosing treatable sleep disorders in CBD.

Reduced afferent-induced facilitation of primary motor cortex excitability in restless legs syndrome.

Restless legs syndrome (RLS) is characterized by the association of an urge to move, and vesperal or nocturnal sensory symptoms; it is frequently associated with periodic limb movements. Evidence from imaging and electrophysiological studies suggests that RLS is linked to changes in sensorimotor integration. Nevertheless, the underlying mechanisms have not been characterized, and the cortical origin has yet to be confirmed. The objective of the present study was to establish whether or not sensorimotor integration in RLS patients is impaired in the evening. The time-dependent modulation of motor cortex excitability following peripheral electric nerve stimulation was studied in 14 idiopathic RLS patients, and 14 paired healthy controls. Different inter-stimulus intervals were used to measure short-latency and long-latency afferent inhibition (SAI and LAI) and afferent-induced facilitation (AIF). Motor evoked potentials were recorded from the first dorsal interosseous muscle in two experimental sessions (one in the morning and one in the evening). With the exception of LAI (which was present in the morning but absent in the evening in both healthy controls and RLS patients), no circadian variations were observed in sensorimotor integration. Although SAI was present in patients with RLS, AIF was disrupted (relative to controls) - suggesting the presence of an indirect sensorimotor integration disorder affecting the long corticocortical pathways in patients with RLS. The lack of circadian modulation in sensorimotor integration suggests that clinical circadian variations have other causes.

Vigilance troubles in Parkinson's disease: a subjective and objective polysomnographic study.

BACKGROUND AND PURPOSE: To assess the prevalence of vigilance disorders in Parkinson's disease patients, relate the observed phenomena to potential causes and confirm these troubles with polysomnographic analysis. PATIENTS AND METHODS: A questionnaire was used to gather information on demographic data, previous and current treatments, disease characteristics, sleep and vigilance troubles. Somnolence was measured using the Epworth Sleepiness Scale (ESS). Nocturnal polysomnography (PSG) and multiple sleep latency tests (MSLT) were performed for a sample of parkinsonian patients. RESULTS: Two hundred twenty-two parkinsonian patients completed the questionnaire, and 36 patients had objective analyses. Of the patients, 43.2% had an ESS score >10, and 28.4% reported somnolence in the hour after taking dopaminergic drugs, whereas 6.8% reported unintended sleep episodes. In view of questionnaire data, these vigilance disorders may be partly explained not only by the impact of nocturnal sleep disorders (e.g. sleep apnea syndromes) but also by dopaminergic therapy (especially with dopaminergic agonists). With PSG and MSLT results, we have shown a significant correlation between mean sleep latency and ESS score. Patients with unintended sleep episodes have severe sleepiness in MSLT compared with others patients. CONCLUSIONS: Vigilance disorders are frequently observed in Parkinson's disease. We recommend informing patients of the risk of occurrence of such conditions, notably for patients with unintended sleep episodes and with sleepiness in the hour after taking dopaminergic drugs.

Parkinson's Disease Genetic Loci in Rapid Eye Movement Sleep Behavior Disorder.

Rapid eye movement (REM) sleep behavior disorder (RBD) is a prodromal condition for Parkinson's disease (PD) and other synucleinopathies, which often occurs many years before the onset of PD. We analyzed 261 RBD patients and 379 controls for nine PD-associated SNPs and examined their effects, first upon on RBD risk and second, on eventual progression to synucleinopathies in a prospective follow-up in a subset of patients. The SCARB2 rs6812193 (OR = 0.67, 95 % CI = 0.51-0.88, p = 0.004) and the MAPT rs12185268 (OR-0.43, 95 % CI-0.26-0.72, p = 0.001) were associated with RBD in different models. Kaplan-Meier survival analysis in a subset of RBD patients (n = 56), demonstrated that homozygous carriers of the USP25 rs2823357 SNP had progressed to synucleinopathies faster than others (log-rank p = 0.003, Breslow p = 0.005, Tarone-Ware p = 0.004). As a proof-of-concept study, these results suggest that RBD may be associated with at least a subset of PD-associated genes, and demonstrate that combining genetic and prodromal clinical data may help identifying individuals that are either more or less susceptible to develop synucleinopathies. More studies are necessary to replicate these results, and identify more genetic factors affecting progression from RBD to synucleinopathies.

Does post-movement beta synchronization reflect an idling motor cortex?

After the completion of a voluntary movement, a synchronization of cortical beta rhythms is recorded over the contralateral central region, which is assumed to reflect the termination of the motor command. In order to test this hypothesis, we compared in eight healthy subjects the synchronization of EEG beta rhythms following active and passive index extension. The passive movement was also performed after deafferentation by ischaemic nerve block in three subjects. Beta synchronization was present in all subjects after both active and passive movements, and disappeared under ischaemia in all three subjects. Post-movement beta synchronization can not solely be explained by an idling motor cortex. It may also, at least in part, reflect a movement-related somatosensory processing.

Effects of bilateral subthalamic stimulation on sleep in Parkinson's disease.

OBJECTIVE: Sleep disturbances are frequently observed in Parkinson's disease (PD). Bilateral chronic subthalamic nucleus (STN) stimulation is an alternative treatment for advanced PD. Improvements in motor disturbances after STN stimulation are well documented and seem to be associated with better sleep quality, even though the objective effect on sleep structure remains unclear. We have therefore studied the sleep/wakefulness cycle before and after surgical treatment in 10 consecutive parkinsonian patients. METHODS: Subjective sleep quality and sleep recordings were evaluated one month before and three months after initiation of STN stimulation. After surgery, the recordings were performed under two conditions: with stimulation (the "on" condition) and-if patients had given their consent-in the absence of stimulation (the "off" condition). RESULTS: With STN stimulation, subjective and objective sleep qualities were improved. Total sleep time, sleep efficiency and the durations of deep slow wave sleep and paradoxical sleep increased significantly. When stimulation was absent, sleep disturbances were similar to those observed before surgery. CONCLUSION: Chronic STN stimulation is associated with a sleep improvement, which can be explained in part by the concomitant decrease in motor disturbances but also by the reduction in dosages of antiparkinsonian medication. However, we can not exclude a direct effect of STN stimulation on sleep regulatory centres.