Clinical insights by the presence of bipolar disorder in pseudohypoparathyroidism type 1A.

Pseudohypoparathyroidism type 1A and its association with bipolar disorder (BD) have never been reported so far. We report a new case with both clinical entities and discuss the potential pathophysiological mechanisms of this association (protein kinase A hypoactivation, parathyroid hormone, hypocalcemia, protein kinase C activation, vitamin D deficiency). In this patient, the correction of the underlying calcium and vitamin D deficiencies leads to a better BD outcome and lower dosage of psychopharmacological agents. The conclusions might be generalized for a better understanding and management of these conditions.

Upper airway surgery of obstructive sleep apnea in pycnodysostosis: case report and literature review.

Pycnodysostosis is an autosomal recessive disorder due to a mutation in the cathepsin K gene, which causes a decrease of the bone turnover; a review of the literature suggests that pycnodysostosis is frequently associated with severe respiratory obstruction, which needs surgical treatment. The aim of this paper is to describe the surgical treatment of a 3½-year-old girl affected by Pycnodysostosis complicated by a severe sleep-related respiratory disorder. The surgical treatment, consisting of adenotonsillectomy and palatoplasty, resulted in a striking amelioration of respiratory parameters and increased posterior airway space, and allowed the patient to avoid tracheotomy while awaiting for maxillo-mandibular surgery.

Heart rate and heart rate variability modification in chronic insomnia patients.

Chronic insomnia is highly prevalent in the general population, provoking personal distress and increased risk for psychiatric and medical disorders. Autonomic hyper-arousal could be a pathogenic mechanism of chronic primary insomnia. The aim of this study was to investigate autonomic activity in patients with chronic primary insomnia by means of heart rate variability (HRV) analysis. Eighty-five consecutive patients affected by chronic primary insomnia were enrolled (38 men and 47 women; mean age: 53.2 ± 13.6). Patients were compared with a control group composed of 55 healthy participants matched for age and gender (23 men and 32 women; mean age: 54.2 ± 13.9). Patients underwent an insomnia study protocol that included subjective sleep evaluation, psychometric measures, and home-based polysomnography with evaluation of HRV in wake before sleep, in all sleep stages, and in wake after final awakening. Patients showed modifications of heart rate and HRV parameters, consistent with increased sympathetic activity, while awake before sleep and during Stage-2 non-REM sleep. No significant differences between insomniacs and controls could be detected during slow-wave sleep, REM sleep, and post-sleep wake. These results are consistent with the hypothesis that autonomic hyper-arousal is a major pathogenic mechanism in primary insomnia, and confirm that this condition is associated with an increased cardiovascular risk.

VEGF plasma level variations in duloxetine-treated patients with major depression.

BACKGROUND: The vascular endothelial growth factor (VEGF) signaling, which modulates angiogenesis and neurogenesis within the neurovascular unit, might play an important role in the neuro-endocrine-immune (NEI) stress-adaptation system. Recent evidence suggests that VEGF is involved in the pathophysiology of a number of diseases including major depressive disorder (MDD) and is affected by some treatments, including antidepressants. The objective of the study was to investigate the VEGF level variations in MDD patients during antidepressant treatment with duloxetine, a relatively new SNRI. METHODS: A total of 30 MDD patients and 32 healthy controls were assessed using the Hamilton Depression Scale (HAM-D) and monitored for VEGF plasma levels at baseline, week 6 and week 12 of duloxetine treatment (60 mg/day) and at baseline, respectively. RESULTS: According to early clinical response to duloxetine (defined at week 6 by reduction>50% of baseline HAM-D score), the MDD patients were divided into early responders (ER) and early non-responders (ENR). During duloxetine treatment, we found an opposite trend in the VEGF levels between ER and ENR: in ER the VEGF levels significantly increased in association with clinical response at W6, while in ENR the VEGF levels significantly decreased in association with an overall clinical response at W12. LIMITATIONS: Small sample size. CONCLUSIONS: The opposite trends in VEGF levels, increasing in ER and decreasing in ENR, might reflect differential Norepinephrine/Serotonin effects of duloxetine on differential neurobiological backgrounds of depressive syndromes. Overall, the modulation of VEGF signaling within the neurovascular unit during antidepressant treatment could hypothetically favor the remodeling of neural circuitry, contributing to adaptive adjustment of the NEI stress-adaptation system.

Heart rate variability in sleep-related migraine without aura.

OBJECTIVES: This is an observational study aimed to investigate the activity of autonomic nervous system during sleep in patients with sleep-related migraine. METHODS: Eight consecutive migraineurs without aura were enrolled (6 women and 2 men), aged 30 to 62 years (mean 48.1 ± 9.3 years). Inclusion criteria were: high frequency of attacks (> 5 per month) and occurrence of more than 75% of the attacks during sleep causing an awakening. Patients were compared with a control group of 55 healthy subjects (23 men and 32 women, mean age 54.2 ± 13.0 years), and with a further control group of 8 age- and gender-matched healthy controls. Patient and controls underwent polysomnography and heart rate variability analysis. RESULTS: A significant reduction of the LF/HF ratio during N2 and N3 sleep stages was observed in migraineurs compared with controls. No differences in sleep macrostructure were observed; cyclic alternating pattern (CAP) time and CAP rate were lower in migraineurs than in controls. CONCLUSIONS: These findings indicate a peculiar modification of the autonomic balance during sleep in sleep-related migraine. The reduction of LF/HF ratio in NREM sleep was observed in controls, but it was quantitatively much more evident in migraineurs. Changes in LF/HF could be consequent to an autonomic unbalance which could manifest selectively (or alternatively become more evident) during sleep. These findings, together with the reduction in CAP rate, could be an expression of reduced arousability during sleep in patients with sleep-related migraine. The simultaneous involvement of the autonomic, arousal, and pain systems might suggest involvement of the hypothalamic pathways.

NGF serum levels variations in major depressed patients receiving duloxetine.

BACKGROUNDS: Nerve growth factor (NGF) is involved in the modulation of the neuro-endocrine-immune (NEI) system, whereas alterations in neuroplasticity and NEI homeostasis seem to play a role in the pathophysiology of major depressive disorder (MDD). Objective of the study was to investigate NGF levels variations in MDD patients during antidepressant treatment with duloxetine, a relatively newer SNRI. METHODS: 30 MDD patients and 32 healthy controls were assessed using Hamilton depression scale (HAM-D) and monitored for NGF serum levels at baseline, week 6 and week 12 of duloxetine treatment (60 mg/day) and at baseline, respectively. RESULTS: According to early clinical response to duloxetine (defined at week 6 by reduction >50% of baseline HAM-D score), MDD patients were distinguished in early responders (ER) and early non-responders (ENR), who overall reached clinical response at week 12. Laboratory analysis showed overall significant lower baseline NGF levels among depressed patients compared to healthy controls, not significantly in ER and significantly in ENR. During duloxetine treatment NGF levels further decreased in association with clinical response, reaching significantly lower values in ER at W6 compared to controls, and in ENR at W12 compared to baseline. CONCLUSIONS: A decrease in NGF levels during duloxetine treatment in association to clinical response could be indicative of a relative restoring of NEI stress-adaptation system, since stressors, inducing neuronal instability due to neurotrophins activity changes, permits circuitry remodeling as background in the selection of alternative adaptive behaviors. However, the lower baseline NGF levels found in MDD patients that further decrease during the treatment could represent a lower neurotrophin set point, possibly reflecting a functional impairment in stress-adaptive neuroplasticity in depressive disorders.

Pain and the alpha-sleep anomaly: a mechanism of sleep disruption in facioscapulohumeral muscular dystrophy.

OBJECTIVE: To measure the presence of the alpha-sleep anomaly in facioscapulohumeral muscular dystrophy (FSHD) and to evaluate the association between the sleep electroencephalogram (EEG) pattern and the presence of musculoskeletal pain. DESIGN: Cross-sectional study. SETTING: Sleep laboratory. SUBJECTS: Fifty-five consecutive adult FSHD patients, 26 women and 29 men, age 49.6 ± 15.1 years (range 18-76). INTERVENTIONS: Questionnaires and polysomnography. OUTCOME MEASURES: Patients were asked to indicate if in the 3 months before the sleep study they presented persisting or recurring musculoskeletal pain. Patients who reported pain were asked to fill in the Italian version of the Brief Pain Inventory and the McGill Pain questionnaire, and a 101-point visual analog scale (VAS) for pain intensity. Polysomnographic recordings were performed. EEG was analyzed by means of Fast Fourier Transform. Four power spectra bands (δ 0-4 Hz, θ 4-8 Hz, α 8-14 Hz, ß 14-32 Hz) were computed. Sleep macrostructure parameters and alpha/delta EEG power ratio during non rapid eye movement (NREM) sleep were compared between patients with and without pain. RESULTS: Forty-two patients in our sample reported chronic pain. VAS mean score was 55.2 ± 23.8 (range 10-100), pain rating index score was 13.8 ± 10.2, and present pain intensity was 2.5 ± 0.8. The statistical analysis documented an increased occurrence of the alpha and beta rhythms during NREM sleep in FSHD patients with pain. Significant correlations were observed between the alpha/delta power ratio during NREM sleep and pain measures. CONCLUSIONS: Chronic musculoskeletal pain is frequent in FSHD patients, and it represents a major mechanism of sleep disruption.

Sensation seeking in major depressive patients: relationship to sub-threshold bipolarity and cyclothymic temperament.

BACKGROUND: High levels of sensation seeking (SS) have been traditionally reported for lifetime bipolar disorder (BD) and/or substance use disorder (SUD) rather than major depressive disorder (MDD). Nonetheless, a renewed clinical attention toward the burden of sub-threshold bipolarity in MDD, solicits for a better assessment of "unipolar" major depressive episodes (MDEs) via characterization of putative differential psychopathological patterns, including SS and predominant affective temperament. METHODS: Two hundred and eighty currently depressed cases of MDD and 87 healthy controls were screened using the Zuckerman's sensation seeking scale-Form-V, the Hypomania Check List-32-item (HCL-32), the Temperament Evaluation of Memphis, Pisa, Paris and San Diego Auto-questionnaire-110-item, the Barratt Impulsivity Scale-11-item, the State-Trait Anxiety Inventory modules and the Structured Clinical Interview for DSM-IV axis-I disorders. Cases were divided into HCL-32(+)(sub-threshold bipolar)/HCL-32(-)("true" unipolar depressed) depending on the HCL-32 total score. RESULTS: Upon correlation and multivariate regression analyses, the HCL-32(+) patients showed the highest levels of SS, higher prevalence of cyclothymic temperament, and higher rates of multiple lifetime axis-I co-morbidities, including SUD. LIMITS: Recall bias on some diagnoses, including BD, grossly matched healthy control group, lack of ad-hoc validated measures for ADHD, SUD, or axis-II disorders. CONCLUSIONS: In our sample, the occurrence of higher levels of SS in "sub-threshold" bipolar cases outlined a differential psychopathological profile compared to DSM-defined "true unipolar" cases of MDE. If confirmed by replication studies, these findings may aid clinicians in delivering a more accurate diagnosis and a safer use of antidepressants in some MDD cases.

Adjunctive agomelatine therapy in the treatment of acute bipolar II depression: a preliminary open label study.

PURPOSE: The circadian rhythm hypothesis of bipolar disorder (BD) suggests a role for melatonin in regulating mood, thus extending the interest toward the melatonergic antidepressant agomelatine as well as type I (acute) or II cases of bipolar depression. PATIENTS AND METHODS: Twenty-eight depressed BD-II patients received open label agomelatine (25 mg/bedtime) for 6 consecutive weeks as an adjunct to treatment with lithium or valproate, followed by an optional treatment extension of 30 weeks. Measures included the Hamilton depression scale, Pittsburgh Sleep Quality Index, the Clinical Global Impression Scale-Bipolar Version, Young Mania Rating Scale, and body mass index. RESULTS: Intent to treat analysis results demonstrated that 18 of the 28 subjects (64%) showed medication response after 6 weeks (primary study endpoint), while 24 of the 28 subjects (86%) responded by 36 weeks. When examining primary mood stabilizer treatment, 12 of the 17 (70.6%) valproate and six of the 11 (54.5%) lithium patients responded by the first endpoint. At 36 weeks, 14 valproate treated (82.4%) and 10 lithium treated (90.9%) subjects responded. At 36 weeks, there was a slight yet statistically significant (P = 0.001) reduction in body mass index and Pittsburgh Sleep Quality Index scores compared to respective baseline values, regardless of mood stabilizer/outcome. Treatment related drop-out cases included four patients (14.28%) at week 6 two valproate-treated subjects with pseudo-vertigo and drug-induced hypomania, respectively, and two lithium-treated subjects with insomnia and mania, respectively. Week 36 drop outs were two hypomanic cases, one per group. CONCLUSION: Agomelatine 25 mg/day was an effective and well-tolerated adjunct to valproate/lithium for acute depression in BD-II, suggesting the need for confirmation by future double blind, controlled clinical trials.

A case of severe oral self-injurious Tourette's syndrome alleviated by pregabalin.

Self-injurious behavior (SIB) associated with Tourette's syndrome (TS) is a severe neuropsychiatric condition that causes significant distress and can impair social functioning. The current treatment options for the condition include pharmacological, physical and psychosocial interventions. However, given the need for more effective interventions, especially for those patients who are unresponsive and/or intolerant to standard medications, further exploration of novel treatments is imperative. In this report, we present a case of SIB-TS that was successfully treated with pregabalin. The patient received 1-year of follow-up and was noted to have considerable improvement in symptoms. Although rigorous controlled studies are required, based on our case study, pregabalin may be a potential treatment option in some cases of SIB with TS.

Pycnodysostosis with extreme sleep apnea: a possible alternative to tracheotomy.

PURPOSE: Pycnodysostosis (OMIM:265800) is an autosomal recessive genetic disorder due to a mutation in the cathepsin K gene, which causes a decrease of the bone turnover and a deterioration of the bone structure. Our aim was to describe a 5 year-old patient affected by pycnodysostosis, associated with an extremely severe obstructive sleep apnea syndrome, who was treated effectively with a combination of upper airway surgery and positive pressure ventilation. METHODS: A 5 year-old child affected by pycnodysostosis was referred to us for failure to thrive, facial dysmorphisms and respiratory disorders, and who developed an extremely severe sleep apnea syndrome. RESULTS: Polysomnography showed extremely severe OSAS (AHI = 81.6 events/hour). The child was treated successfully with a combination of adenotonsillectomy, uvulo-palato-pharingo plasty (UPPP), followed by positive pressure ventilation. Polysomnographic recordings confirmed the striking reduction of obstructive respiratory events during sleep (from 81.6 to 12.3 events/hour). Lateral skull Rx and cephalometric measures showed that the Posterior Airway Space (PAS) increased from 3 to 19 mm. The decision to perform UPPP in association with adeno-tonsillectomy was motivated by the presence of palatal obstruction, caused by hypertrophic and prolapsed soft tissue. CONCLUSIONS: Our observations suggest that a conservative surgical treatment, consisting of adenotonsillectomy plus UPPP, may increases the patency of the upper airway, both at palatal and pharyngeal level. The combination of adenotonsillectomy plus UPPP, followed by CPAP ventilation, may avoid tracheotomy in very severe OSAS patients.

An integrated video-analysis software system designed for movement detection and sleep analysis. Validation of a tool for the behavioural study of sleep.

OBJECTIVE: The aim of the present study was to develop and validate a software tool for the detection of movements during sleep, based on the automated analysis of video recordings. This software is aimed to detect and quantify movements and to evaluate periods of sleep and wake. METHODS: We applied an open-source software, previously distributed on the web (Zoneminder, ZM), meant for video surveillance. A validation study was performed: computed movement analysis was compared with two standardised, 'gold standard' methods for the analysis of sleep-wake cycles: actigraphy and laboratory-based video-polysomnography. RESULTS: Sleep variables evaluated by ZM were not different from those measured by traditional sleep-scoring systems. Bland-Altman plots showed an overlap between the scores obtained with ZM, PSG and actigraphy, with a slight tendency of ZM to overestimate nocturnal awakenings. ZM showed a good degree of accuracy both with respect to PSG (79.9%) and actigraphy (83.1%); and had very high sensitivity (ZM vs. PSG: 90.4%; ZM vs. actigraphy: 89.5%) and relatively lower specificity (ZM vs. PSG: 42.3%; ZM vs. actigraphy: 65.4%). CONCLUSIONS: The computer-assisted motion analysis is reliable and reproducible, and it can allow a reliable esteem of some sleep and wake parameters. The motion-based sleep analysis shows a trend to overestimate wakefulness. SIGNIFICANCE: The possibility to measure sleep from video recordings may be useful in those clinical and experimental conditions in which traditional PSG studies may not be performed.

An open pilot study of zonisamide augmentation in major depressive patients not responding to a low dose trial with duloxetine: preliminary results on tolerability and clinical effects.

BACKGROUND: Despite multiple antidepressant options, major depressive disorder (MDD) still faces high non-response rates, eventually requiring anticonvulsant augmentation strategies too. The aim of this study was to explore such a potential role for zonisamide. METHODS: A total of 40 MDD outpatients diagnosed using the Diagnostic and Statistical Manual for Mental Disorders, fourth edition criteria entered a 24 week open trial receiving duloxetine 60 mg/day for the first 12 weeks and subsequently (weeks 12 to 24) augmentation with zonisamide 75 mg/day if they did not respond to the initial monotherapy. Efficacy and tolerability were assessed using the Hamilton Scales for Anxiety and Depression (a 12 week score ≥50% vs baseline defined 'non-response'), the Arizona Sexual Experience Scale, the Patient Rated Inventory of Side Effects and the Young Mania Rating Scale. RESULTS: At week 12, 15 patients out of 39 (38.5%) were responders, and 1 had dropped out; remarkably, 14 patients out of 24 (58.3%) had achieved response by week 24. Poor concentration and general malaise were associated with non-response both at week 12 and 24 (P = 0.001), while loss of libido and reduced energy were prominent among final timepoint non-responders. Patients receiving zonisamide also experienced weight reduction (2.09 ± 12.14 kg; P = 0.001) independently of the outcome. CONCLUSIONS: Although only a preliminary study due to strong methodological limitations, and thus requiring confirmation by further controlled investigations, the current results indicate zonisamide may be a potential augmentation option for some depressed patients receiving low doses of duloxetine.

Electroretinographic assessment in major depressed patients receiving duloxetine: might differences between responders and non-responders indicate a differential biological background?

INTRODUCTION: Despite intense research efforts, still too little is known about the biological determinants of depression, thus soliciting diverse study approaches. Among others, the electroretinography (ERG) has been proposed even as a putative proxy (retinal) measurement of central dopaminergic activity for Major Depressive Disorder (MDD) both in drug-naïve patients and subjects receiving antidepressant treatments. Nonetheless, current evidences are merely preliminary, essentially considering just older classes of antidepressants, thus requiring confirmation studies even with newer agents as duloxetine. METHOD: Twenty MDD subjects and 20 matched controls received duloxetine 60 mg/day for 12 weeks, being monitored both by standard ERG recording and by administration of the Hamilton scales for Depression and Anxiety and the Young Mania Rating Scale at baseline and week 12 (end of the study). RESULTS: ERG mean rod b-wave amplitude significantly reduced from baseline to week 12 in those depressed subjects achieving final response (p=.024), decreasing from the highest rank values to the ones, substantially unmodified, seen among non-responders and controls. LIMITATIONS: Small sample size and lack of multiple assessments. CONCLUSIONS: At least some MDD patients responding to duloxetine might exhibit a peculiar ERG pattern, hypothetically indicating a specific biological background. If confirmed by larger-sampled studies, these results might shed further light in the understanding of the biological determinants of different subtypes of depression, ideally showing alternative patterns of response upon different treatment interventions.

Increased sleep spindle activity in patients with Costello syndrome (HRAS gene mutation).

Costello syndrome is a congenital disorder because of HRAS gene mutation, frequently associated with neurologic impairment and sleep disorders. The aims of the study were to evaluate the sleep EEG, and particularly the sleep spindles, in a population of patients with Costello syndrome and to compare them with those characterizing unaffected subjects. Eleven subjects (5 men and 6 women) with Costello syndrome were included in the study; age ranged between 18 months and 31 years (mean, 9.6 ± 9.4 years). The diagnosis was posed on the basis of established clinical criteria and confirmed molecularly. Sleep EEG was studied by means of full-night, laboratory-based video-polysomnography, performed overnight, during hospitalization. Sleep activity was quantified by means of power spectral analysis. Patients heterozygous for an HRAS mutation exhibited increased EEG power in 12- to 15-Hz activity band compared with age-matched control subjects. In conclusion, the authors observed a consistent increase in the amplitude of cortical sleep spindles in all our subjects with an HRAS mutation. These "giant" spindles were not associated with any evidence of structural damage of the cortex or the thalami and should be considered as phenotypic feature of sleep EEG activity in Costello syndrome because of HRAS mutation.

Increase in IL-6 levels among major depressive disorder patients after a 6-week treatment with duloxetine 60 mg/day: a preliminary observation.

BACKGROUND: Immune modifications, including changes in interleukin (IL)-6 levels, have often been observed in major depressive disorder (MDD) during treatment with selective serotonin reuptake inhibitors (SSRIs) or the serotonin norepinephrine reuptake inhibitor (SNRI) venlafaxine. Nevertheless, no equivalent observation for the SNRI duloxetine has been made to date. METHOD: Sixteen patients diagnosed with MDD and an actual major depressive episode according to DSM-IV criteria and 16 healthy controls entered a 6-week trial with duloxetine 60 mg/day. All subjects (n = 32) were assessed using the Hamilton Depression Rating Scale (HAM-D), the Young Mania Rating Scale (YMRS), and were monitored for IL-6 levels both at baseline and at week 6. Blood samples for IL-6 levels were evaluated by ELISA. RESULTS: After 6 weeks of treatment, the mean total scores for HAM-D declined both in the depressed and control groups, while IL-6 modification showed an opposite trend both in depressed (12.38 ± 19.80 to 19.73 ± 18.94 pg/mL) and control subjects (12.25 ± 21.12 to 17.63 ± 20.44 pg/mL), as did YMRS (ns), although none of the subjects switched to (hypo)mania. Of note, IL-6 levels increased significantly only in the responders subgroup (n = 9; P = 0.012). CONCLUSION: The small sample size and weak design of this study limit the validity of our results, which should be regarded as preliminary only. Nonetheless, the trend of increasing IL-6 levels observed in responder patients treated with duloxetine should prompt further controlled, extended studies with larger samples, with the specific aim of better assessing a putative differential role of norepinephrinergic antidepressant stimulation of serotonergic reuptake inhibition in determining modifications in IL-6 levels. Ideally, more accurate replication studies may contribute to further understanding of the complex interaction of mood, antidepressant response, and the immune system.

Bilateral thalamic stroke transiently reduces arousals and NREM sleep instability.

The vascularization of the human thalami is supplied by many perforating arteries, which exhibit complex distribution and many possible individual variations. One rare variant is the artery of Percheron that supplies the paramedian thalami bilaterally. Its ictal occlusion may result in a symmetric paramedian infarction, which generally leads to impairment of consciousness associated with hypersomnia. Our aim is to describe in detail sleep-wake schedules, sleep structure and microstructure in a 68-year-old patient with occlusion of Percheron's artery. EEG monitoring, performed 24 h after the onset of symptoms, showed severe disruption of the sleep-wake cycle, with episodes of sleep and wakefulness recurring irregularly during day and night. Thalamic nuclei are part of the human arousal system; medial thalamic nuclei play a pivotal role in sleep regulation at different levels. A diagnosis of paramedian thalamic infarction should be considered in patients who present with recurrent episodes of unresponsiveness.

Cephalometric findings in facioscapulohumeral muscular dystrophy patients with obstructive sleep apneas.

PURPOSES: The purposes of the study are: (1) to establish if cephalometry and upper airway examination may provide tools for detecting facioscapulohumeral (FSHD) patients at risk for obstructive sleep apnea syndrome (OSAS); and (2) to correlate cephalometry and otorhinolaryngologic evaluation with clinical and polysomnographic features of FHSD patients with OSAS. METHODS: Patients were 13 adults affected by genetically confirmed FSHD and OSAS, 11 men, with mean age 47.1 ± 12.8 years (range, 33-72 years). All underwent clinical evaluation, Manual Muscle Test, Clinical Severity Scale for FSHD, Epworth Sleepiness Scale, polysomnography, otorhinolaryngologic evaluation, and cephalometry. RESULTS: Cephalometric evidence of pharyngeal narrowing [posterior airways space (PAS) < 10 mm] was present in only one patient. The mandibular planus and hyoid (MP-H) distance ranged from 6.5 to 33.1 mm (mean, 17.5 ± 7.8 mm). The mean length of soft palate (PNS-P) was 31.9 ± 4.8 mm (range, 22.2 to 39.7 mm). No patient presented an ANB angle > 7°. There was no significant correlation between cephalometric measures, clinical scores, and PSG indexes. PAS and MP-H were not related to the severity of the disease. CONCLUSIONS: Upper airway morphological evaluation is of poor utility in the clinical assessment of FSHD patients and do not allow to predict the occurrence of sleep-related upper airway obstruction. This suggests that the pathogenesis of OSAS in FSHD is dependent on the muscular impairment, rather than to the anatomy of upper airways.