Management of sleep-disordered breathing in patients with syndromic hemifacial macrosomia.

PURPOSE: Patients with syndromic hemifacial microsomia (SHFM) are at risk of obstructive sleep apnea (OSA). The aim of the study was to describe the prevalence of OSA and its management, especially in patients with Goldenhar syndrome (GS). METHODS: The respiratory polygraphies and clinical management of 15 patients, aged 2 to 23 years, evaluated at a national reference center, were analyzed. RESULTS: Four (27%) patients had no OSA, 4 (27%) had mild OSA, and 7 (46%), of whom 5 were ≤ 2 years old, had severe OSA. None of the patients had central apneas. Only one patient had alveolar hypoventilation, and another one had nocturnal hypoxemia. Two patients had severe OSA despite prior adenoidectomy or mandibular distraction osteogenesis. Median duration of follow-up was 3.5 years (range 0.5-9 years). None of the patients without OSA or with mild OSA at baseline respiratory polygraphy developed OSA during the follow up. Among the 7 patients with severe OSA, 3 required continuous positive airway pressure or noninvasive ventilation, and one patient required a tracheostomy. CONCLUSION: In conclusion, patients with SHFM are at high risk of severe OSA at any age, underlining the importance of systematic sleep studies to diagnose and evaluate the severity of OSA. Individualized treatment should be privileged, based on a careful examination of the entire upper airway, taking in account potential associated risk factors. All patients with SHFM should be managed by a pediatric expert multidisciplinary medical/surgical team until the end of post pubertal growth.

Developmental outcome of children with Robin sequence treated with the current Paris protocol.

AIM: We aimed to investigate the developmental outcome of children with Robin sequence (RS) for whom continuous positive airway pressure was the main strategy to release upper airway obstruction. METHODS: We included children with isolated RS or RS associated with Stickler syndrome who were aged 15 months to 6 years. We used the French version of the Child Development Inventory and calculated the developmental quotient (DQ) for eight different domains and the global DQ (DQ-global). We searched for determinants of risk of delay. RESULTS: Of the 87 children, for 71%, the developmental evolution was within the norm (DQ-global ≥86 or ≥-1 SD), 29% were at high risk of delay (DQ-global <86 or <-1 SD), and only 3% were at very high risk of delay (DQ-global <70 or <-2 SD). The DQs for expressive language and language comprehension were lower in our study population than the general population, but an improvement was noticed with the children's growth. CONCLUSION: Risk of a developmental delay was not greater for children with the most severe respiratory phenotype than the others. Children whose mothers had low education levels were more at risk than the others.

Siblings of children with a complex chronic disorder treated by non-invasive ventilation.

AIM: The aim of the study was to assess the emotional and behavioural functioning of siblings of children treated with long term non-invasive ventilation (NIV). METHODS: Parents of children treated with NIV completed the Child Behaviour Checklist and a qualitative questionnaire for each sibling, aged 1.5-18 years old. RESULTS: The parents of 49 ventilated children were questioned about 79 siblings. For the siblings aged 1.5-5, mean total T score was 57 ± 22 (range 28-92), and five siblings (31%) were in the clinical range. For the siblings aged 6-18, mean total T score was 49 ± 12 (range 26-71), and six siblings (10%) were in the clinical range. Siblings felt responsible for their affected sibling (31%) and involved with his/her illness (52%), with 31% being worried about him/her. A change in behaviour was observed in 19% of the siblings since the initiation of NIV; 26% were impacted by the use of the NIV device. CONCLUSIONS: The majority of siblings of children treated with NIV do not present significant emotional and behavioural problems. They feel deeply responsible for their affected sibling and involved in his/her illness and treatment, highlighting the importance to involve the siblings in the care of the affected child.

Sleep-disordered breathing and its management in children with rare skeletal dysplasias.

Sleep-disordered breathing (SDB) is common in patients with skeletal dysplasias. The aim of our study was to analyze SDB and respiratory management in children with rare skeletal dysplasias. We performed a retrospective analysis of patients with spondyloepiphyseal dysplasia congenita (SEDC), metatropic dysplasia (MD), spondyloepimetaphyseal dysplasia (SEMD), acrodysostosis (ADO), geleophysic dysplasia (GD), acromicric dysplasia (AD), and spondylocostal dysplasia (SCD) between April 2014 and October 2020. Polygraphic data, clinical management, and patients' outcome were analyzed. Thirty-one patients were included (8 SEDC, 3 MD, 4 SEMD, 1 ADO, 4 GD, 3 AD, and 8 SCD). Sixteen patients had obstructive sleep apnea (OSA): 11 patients (2 with SEDC, 1 with SEMD, 1 with ADO, 1 with GD, 2 with AD, and 4 with SCD) had mild OSA, 2 (1 SEMD and 1 GD) had moderate OSA, and 3 (1 SEDC, 1 MD, 1 SEMD) had severe OSA. Adenotonsillectomy was performed in one patient with SCD and mild OSA, and at a later age in two other patients with ADO and AD. The two patients with moderate OSA were treated with noninvasive ventilation (NIV) because of nocturnal hypoxemia. The three patients with severe OSA were treated with adenotonsillectomy (1 SEDC), adeno-turbinectomy and continuous positive airway pressure (CPAP; 1 MD), and with NIV (1 SEMD) because of nocturnal hypoventilation. OSA and/or alveolar hypoventilation is common in patients with skeletal dysplasias, underlining the importance of systematic screening for SDB. CPAP and NIV are effective treatments for OSA and nocturnal hypoventilation/hypoxemia.

Central apnea and periodic breathing in children with underlying conditions.

Central sleep apneas and periodic breathing are poorly described in childhood. The aim of the study was to describe the prevalence and characteristics of central sleep apnea and periodic breathing in children with associated medical conditions, and the therapeutic management. We retrospectively reviewed all poly(somno)graphies with a central apnea index ≥ 5 events per hr in children aged > 1 month performed in a paediatric sleep laboratory over a 6-year period. Clinical data and follow-up poly(somno)graphies were gathered. Ninety-five out of 2,981 patients (3%) presented central sleep apnea: 40% were < 1 year, 41% aged 1-6 years, and 19% aged ≥ 6 years. Chiari malformation was the most common diagnosis (13%). Mean central apnea index was 20 ±â€…30 events per hr (range 5-177). Fifty-eight (61%) children had an exclusive central pattern with < 5 obstructive events per hr. Periodic breathing was present in 79 (83%) patients, with a mean percentage of time with periodic breathing of 9 ±â€…16%. Among periodic breathing episodes, 40% appeared after a sigh, 8% after an obstructive event, 6% after breathing instability and 2% after bradypnea. The highest clinical apnea index and percentage of time with periodic breathing were observed in children with encephalopathy and/or epilepsy (68 ± 63 events per hr and 30 ± 34%). Clinical apnea index did not differ according to age, while periodic breathing duration was longer in children > 1 year old. Watchful waiting was performed in 22 (23%) patients with spontaneous improvement in 20. Other treatments (upper airway or neurosurgery, nocturnal oxygen therapy, continuous positive airway pressure, non-invasive ventilation) were effective in selected patients. Central sleep apnea is rare in children and comprises heterogeneous conditions. Sleep studies are essential for the diagnosis, characterization and management of central sleep apnea.

Quality of poly(somno)graphy recordings in children.

The aim of the study was to assess the scorability of the signals of four poly(somno)graphy devices and transcutaneous carbon dioxide tracings (PtcCO2 ) of one device in children. The presence (0%, < 25%, 25%-50%, 50%-75%, 75%-99%, 100% of recording time) and quality (bad, average, good) of the signal of each sensor were analysed. During a 5-month period, 364 poly(somno)graphies were performed in 12 different hospital units. Forty-one children had poor/bad cooperation, and 13 severe behaviour disorders. Seventy-one and 293 poly(somno)graphies were performed in children aged ≤ 2 and > 2 years, respectively; nine poly(somno)graphies failed. For the four poly(somno)graphy devices, the signal was present during 99% of recording time for the electroencephalogram, 99% for thoracic belt, 97% for abdominal belt, 97% for body position, 95% for the microphone, 92% for pulse oximetry, 87% for tracheal sound, 71% for oronasal thermistor, 52% (41% for ≤ 2 years, 55% for > 2 years old) for nasal pressure and 86% for PtcCO2 . The signal was of good quality in 98% of poly(somno)graphies for body position, 96% for microphone, 96% for thoracic belt, 95% for pulse oximetry, 91% for abdominal belt, 91% for tracheal sound, 82% for oronasal thermistor, 78% for electroencephalogram, 73% for nasal pressure and 46% of PtcCO2 recordings. The scorability was comparable between devices. Nasal pressure and oronasal thermistor had the lowest scorability, especially in children aged ≤ 2 years. This underlines the necessity of the development or improvement of alternative, ideally face-free, sensors, or miniaturized devices adapted for infants and children.

Pulse transit time as a tool to characterize obstructive and central apneas in children.

PURPOSE: The characterization of apneas during polysomnography (PSG) as obstructive or central is a key element of a sleep study. Pulse transit time (PTT) has demonstrated its potential as a noninvasive surrogate marker for inspiratory efforts. The aim of the study was to assess the ability of PTT to classify apneas as central or obstructive, as compared to respiratory inductance plethysmography (RIP) in children. METHODS: Overnight PSG with simultaneous PTT recording was performed on 11 consecutive children (mean age 8.9 years, range 1-18.2 years). The same observer scored the apneas using two blinded configurations: (1) the RIP scoring used the nasal pressure, thermistors, thoracic and abdominal movements, and pulse oximetry signals: (2) the PTT scoring used PTT in combination with all the other signals without the thoracic and abdominal movements. RESULTS: One hundred fourteen apneas out of a total of 520 respiratory events were analyzed. With RIP, 58 (51%) apneas were scored as obstructive and 56 (49%) as central. Using PTT, 77 (68%) of the apneas were scored as obstructive and 37 (32%) as central. When using PTT, 30 apneas scored as central by RIP were scored as obstructive. PTT was highly sensitive (81%) but poorly specific (46%) in scoring 58 apneas as obstructive. PTT was less sensitive (46%) but highly specific (81%) to score 56 apneas as central. CONCLUSION: PTT may be used as an additional tool to RIP to improve the scoring of apneas as obstructive or central in children. The high percentage of artifact is a limitation of PTT.

A comparison of pulse oximetry and cerebral oxygenation in children with severe sleep apnea-hypopnea syndrome: a pilot study.

Near infrared spectroscopy (NIRS) has been used to assess the impact of obstructive sleep apnea-hypopnea syndrome (OSAHS) on cerebral oxygenation. However, the relationship between the variations in the cerebral tissue oxygen saturation (ΔTOI) and pulse oximetry (ΔSpO2 ) has not been assessed in children with OSAHS. Consecutive clinically stable children with severe OSAHS [apnea-hypopnea index (AHI) >15 events h-1 ] diagnosed during a night-time polygraphy with simultaneous recording of cerebral oxygenation with NIRS (NIRO-200NX, Hamamatsu Photonics KK) were included between September 2015 and June 2016. Maximal ΔSpO2 (SpO2 drop from the value preceding desaturation to nadir) and concomitant variations in transcutaneous carbon dioxide (ΔPtcCO2 ), maximal ΔTOI and maximal variations in cerebral oxygenated (O2 Hb) and deoxygenated (HHb) haemoglobin were reported. The relationships between ΔSpO2 , ΔPtcCO2 and ΔTOI, ΔO2 Hb and ΔHHb were investigated. The data from five children (three boys, aged 9.6 ± 6.7 years, AHI 16-91 events h-1 ) were analysed. Strong correlations were found between ΔSpO2 and ΔTOI (r = 0.887, P < 0.001), but also with ΔO2 Hb and ΔHHb with a particular pattern in the youngest child with a dark skin pigmentation. Mean ΔSpO2 was 20 ± 17% and mean ΔTOI was 8 ± 7%. Maximal ΔSpO2 of approximately 70% were coupled with ΔTOI of no more than 35%. ΔPtcCO2 correlated only weakly with the cerebral oxygenation indexes. This pilot study shows a strong relationship between pulse oximetry and cerebral oxygenation in children with OSAHS, with lower changes in TOI compared to SpO2 . Future studies should address the clinical impact of respiratory events on cerebral oxygenation and its consequences.

Usefulness of transcutaneous PCO2 to assess nocturnal hypoventilation in restrictive lung disorders.

BACKGROUND AND OBJECTIVE: Nocturnal hypoventilation is now an accepted indication for the initiation of non-invasive ventilation. Nocturnal hypoventilation may be an under diagnosed condition in chronic respiratory failure. The most appropriate strategy to identify sleep hypoventilation is not yet clearly defined. In clinical practice, it is indirectly assessed using nocturnal pulse oximetry (NPO) and morning arterial blood gases (mABG). Even though continuous transcutaneous carbon dioxide partial pressure (TcPCO2 ) monitoring is theoretically superior to NPO plus mABG, it is not routinely used. We aimed to prospectively compare NPO plus mABG with nocturnal TcPCO2 for the detection of alveolar hypoventilation in a cohort of patients with chronic restrictive respiratory dysfunction. METHODS: We assessed 80 recordings of mABG, nocturnal TcPCO2 and NPO in 72 consecutive patients with neuromuscular disease or thoracic cage disorders. Nocturnal hypoventilation was defined as a mean nightime TcPCO2 ≥50 mm Hg, and nocturnal hypoxaemia as ≥30% of the night with transcutaneous pulse oxygen saturation ≤90% and/or >5 consecutive minutes with transcutaneous pulse oxygen saturation ≤88%. RESULTS: Amongst the 80 recordings, 25 of 76 (32.9%) without nocturnal hypoxaemia and 16 of 59 (27.1%) without hypercapnia on mABG showed nocturnal hypoventilation on TcPCO2 . Amongst recordings showing both normal NPO and mABG, 16 of 52 (30.8%) had a mean TcPCO2 ≥50 mm Hg. Nocturnal hypoxaemia was associated with nocturnal hypoventilation in all recordings. However, 5 of 21 (23.8%) recordings that showed an absence of nocturnal hypoventilation at the chosen threshold showed hypercapnia on mABG. CONCLUSION: Morning arterial blood gases and NPO alone or in combination underestimate nocturnal hypoventilation in patients with chronic restrictive respiratory dysfunction of extrapulmonary origin.

Altered reinforcement learning in Narcolepsy type I and other central disorders of hypersomnolence.

Cognitive impairments are described in central disorders of hypersomnolence (CDH), but studies remain very limited and largely focused on narcolepsy type 1 (NT1). The precise nature and origin of these cognitive impairments is poorly understood. Specifically, impaired decision making under ambiguity has been reported in NT1 and suggested to be caused by dysregulation of the direct projections of hypocretin neurons to the dopamine network. However, the decision-making tasks used previously embed different cognitive functions that are difficult to isolate. This study aims to test reinforcement learning in participants with NT1 and with other (non-hypocretin deficient) CDH in a task known to directly depend on the dopamine system. Participants with NT1 (N = 27), other CDH (N = 34, including narcolepsy type 2 and idiopathic hypersomnia, matched with NT1 participants for sleepiness severity), and healthy participants (N = 34) took part in the study. Results showed that all groups had normal and similar positive reinforcement learning, a pattern not suggestive of dopamine deficiency. However, both participants with NT1 and other CDH had decreased learning abilities to avoid losses. This decreased negative reinforcement learning in participants with CDH was associated with the alteration of vigilance. This study provides new insights into the nature of decision making impairment in people with CDH and suggests that these alterations could be minimized by restoring adequate vigilance.

Polysomnography findings and respiratory muscle function in infants with early onset spinal muscular atrophy after gene replacement as monotherapy: A prospective study.

BACKGROUND: Gene replacement therapy (onasemnogene abeparvovec) is associated with an improvement of the prognosis of children with spinal muscular atrophy, but information on long-term respiratory outcome is scarce. The aim of this study was to report the polysomnography findings and respiratory muscle function of infants with treatment-naive spinal muscular atrophy type 1 and 2 up to 24 months after onasemnogene abeparvovec monotherapy. METHODS: A clinical and motor evaluation, respiratory muscle function testing, and polysomnography were performed repeatedly. RESULTS: Fifteen spinal muscular atrophy patients (1 presymptomatic, 7 type 1b, 6 type 1c, and 1 type 2) were included at a median age of 8.6 months (range 3.8-12.6) and followed for 24 months. The thoracic over head circumference ratio was close to normal at baseline (median 1.00 (range 0.90-1.05)) and increased significantly over time. All polysomnography and nocturnal gas exchange parameters were within normal ranges at baseline (median apnea-hypopnea index 2.5 events/hour (range 0.4-5.3)) and follow-up. The inspiratory muscle strength was normal at baseline but tended to slightly decrease over time and the expiratory muscle strength was low at any time especially for patients with recurrent respiratory infections (median (range) at baseline in cmH2O: crying esophageal pressure 54 (30-110), crying transdiaphragmatic pressure 65 (35-107), gastric pressure during maximal cough 26 (10-130), esophageal pressure during maximal cough 61 (38-150)). Only 3 patients required noninvasive ventilation. CONCLUSION: A continuous respiratory monitoring of spinal muscular atrophy patients during the first years of life following onasemnogene abeparvovec monotherapy seems recommended despite the normality of polysomnography parameters.

Lung volume recruitment and airway clearance for children at home in France.

BACKGROUND: Airway clearance (ACT) and lung volume recruitment (LVR) techniques are used to manage bronchial secretions, increase cough efficiency and lung/chest wall recruitment, to prevent and treat respiratory tract infections. The aim of the study was to review the prescription of ACT/LVR techniques for home use in children in France. METHODS: All the centers of the national pediatric noninvasive ventilation (NIV) network were invited to fill in an anonymous questionnaire for every child aged ≤20 years who started a treatment with an ACT/LVR device between 2022 and 2023. The devices comprised mechanical in-exsufflation (MI-E), intermittent positive pressure breathing (IPPB), intrapulmonary percussive ventilation (IPV), and/or invasive mechanical ventilation (IMV)/NIV for ACT/LVR. RESULTS: One hundred and thirty-nine patients were included by 13 centers. IPPB was started in 83 (60 %) patients, MI-E in 43 (31 %) and IPV in 30 (22 %). No patient used IMV/NIV for ACT/LVR. The devices were prescribed mainly by pediatric pulmonologists (103, 74 %). Mean age at initiation was 8.9 ± 5.6 (0.4-18.5) years old. The ACT/LVR devices were prescribed mainly in patients with neuromuscular disorders (n = 66, 47 %) and neurodisability (n = 37, 27 %). The main initiation criteria were cough assistance (81 %) and airway clearance (60 %) for MI-E, thoracic mobilization (63 %) and vital capacity (47 %) for IPPB, and airway clearance (73 %) and repeated respiratory exacerbations (57 %) for IPV. The parents were the main carers performing the treatment at home. CONCLUSIONS: IPPB was the most prescribed technique. Diseases and initiation criteria are heterogeneous, underlining the need for studies validating the indications and settings of these techniques.

Pediatric long-term noninvasive respiratory support in children with central nervous system disorders.

RATIONALE: The use of long-term noninvasive respiratory support is increasing in children along with an extension of indications, in particular in children with central nervous system (CNS) disorders. OBJECTIVE: The aim of this study was to describe the characteristics of children with CNS disorders treated with long-term noninvasive respiratory support in France. METHODS: Data were collected from 27 French pediatric university centers through an anonymous questionnaire filled for every child treated with noninvasive ventilatory support ≥3 months on 1st June 2019. MAIN RESULTS: The data of 182 patients (55% boys, median age: 10.2 [5.4;14.8] years old [range: 0.3-25]) were collected: 35 (19%) patients had nontumoral spinal cord injury, 22 (12%) CNS tumors, 63 (35%) multiple disabilities, 26 (14%) central alveolar hypoventilation and 36 (20%) other CNS disorders. Seventy five percent of the patients were treated with noninvasive ventilation (NIV) and 25% with continuous positive airway pressure (CPAP). The main investigations performed before CPAP/NIV initiation were nocturnal gas exchange recordings, alone or coupled with poly(somno)graphy (in 29% and 34% of the patients, respectively). CPAP/NIV was started in an acute setting in 10% of the patients. Median adherence was 8 [6;10] hours/night, with 12% of patients using treatment <4 h/day. Nasal mask was the most common interface (70%). Airway clearance techniques were used by 31% of patients. CONCLUSION: CPAP/NIV may be a therapeutic option in children with CNS disorders. Future studies should assess treatment efficacy and patient reported outcome measures.

Detection of Simulated Pediatric Breathing by CPAP/Noninvasive Ventilation Devices.

BACKGROUND: Home CPAP and noninvasive ventilation (NIV) are increasingly used in children. An appropriate choice of the CPAP/NIV device, according to the manufacturer recommendations, should guarantee accurate data collection software. However, not all devices display accurate patient data. We hypothesized that the detection of patient breathing may be expressed as a minimal tidal volume (VTmin ) rather than a minimal weight. The aim of the study was to estimate the VTmin detected by home ventilators when set on CPAP. METHODS: Twelve level I-III devices were analyzed using a bench test. Pediatric profiles were simulated with increasing VT values to determine the VTmin that the ventilator may detect. The duration of CPAP use and the presence/absence of waveform tracings on the built-in software were also gathered. RESULTS: VTmin varied according to the device, ranging from 16-84 mL, independent of level category. The duration of CPAP use was underestimated in all level I devices, which were either not able to display any waveform or only intermittently, until VTmin was reached. The duration of CPAP use was overestimated for the level II and III devices, with the display of different waveforms according to the device as soon as the device was switched on. CONCLUSIONS: Based on the VTmin detected, some level I and II devices may be suitable for infants. A careful testing of the device should be done at CPAP initiation, with a review of data generated from ventilator software.

Respiratory effort during noninvasive positive pressure ventilation and continuous positive airway pressure in severe acute viral bronchiolitis.

OBJECTIVES: To assess if noninvasive positive pressure ventilation (NIPPV) is associated with a greater reduction in respiratory effort as compared to continuous positive airway pressure (CPAP) during severe acute bronchiolitis, with both supports set either clinically or physiologically. METHODS: Twenty infants (median [IQR] age 1.2 [0.9; 3.2] months) treated <24 h with noninvasive respiratory support (CPAP Clin, set at 7 cmH2 O, or NIPPV Clin) for bronchiolitis were included in a prospective single-center crossover study. Esogastric pressures were measured first with the baseline support, then with the other support. For each support, recordings were performed with the clinical setting and a physiological setting (CPAP Phys and NIPPV Phys), aiming at normalising respiratory effort. Patients were then treated with the optimal support. The primary outcome was the greatest reduction in esophageal pressure-time product (PTPES /min). Other outcomes included improvement of the other components of the respiratory effort. RESULTS: NIPPV Clin and Phys were associated with a lower PTPES /min (164 [105; 202] and 106 [78; 161] cmH2 O s/min, respectively) than CPAP Clin (178 [145; 236] cmH2 O s/min; p = 0.01 and 2 × 10-4 , respectively). NIPPV Clin and Phys were also associated with a significant reduction of all other markers of respiratory effort as compared to CPAP Clin. PTPES /min with NIPPV (Clin or Phys) was not different from PTPES /min with CPAP Phys. There was no significant difference between physiological and clinical settings. CONCLUSION: NIPPV is associated with a significant reduction in respiratory effort as compared to CPAP set at +7 cmH2 O in infants with severe acute bronchiolitis. CPAP Phys performs as well as NIPPV Clin.

Effect of long term noninvasive ventilation in children on parent's quality of life.

OBJECTIVE: Improving or maintaining the quality of life of the family of children treated with long term continuous positive airway pressure (CPAP) or noninvasive ventilation (NIV) is a major concern; but studies are scarce. The aim of the study was to evaluate the impact of long term CPAP or NIV in children on anxiety, depression, quality of sleep, and quality of life of their parents. METHODS: Validated questionnaires evaluating anxiety and depression (hospital anxiety and depression scale), sleep quality (Pittsburgh sleep quality index), daytime sleepiness (Epworth sleepiness scale), and parents' quality of life (PedsQL family impact module) were completed by parents of children who were started on CPAP/NIV before (M0) and after 6-9 months (M6) of treatment. RESULTS: The questionnaires of 36 parents (30 mothers, 6 fathers) of 31 children were analyzed. For the entire group, no significant change was observed in anxiety, depression, sleep quality, daytime sleepiness, and quality of life between M0 and M6. When analyzing questionnaire class changes between M0 and M6: anxiety was relieved in 23% of parents and worsened in 29%, depression was relieved in 14% and worsened in 20%, sleep quality improved in 43% and worsened in 27%, sleepiness improved in 26% and worsened in 17%, with no change in the other parents. CONCLUSION: Long term CPAP/NIV in children had no significant effect on parents' anxiety, depression, sleep quality, and quality of life.

Craniofacial growth and function in achondroplasia: a multimodal 3D study on 15 patients.

BACKGROUND: Achondroplasia is the most frequent FGFR3-related chondrodysplasia, leading to rhizomelic dwarfism, craniofacial anomalies, stenosis of the foramen magnum, and sleep apnea. Craniofacial growth and its correlation with obstructive sleep apnea syndrome has not been assessed in achondroplasia. In this study, we provide a multimodal analysis of craniofacial growth and anatomo-functional correlations between craniofacial features and the severity of obstructive sleep apnea syndrome. METHODS: A multimodal study was performed based on a paediatric cohort of 15 achondroplasia patients (mean age, 7.8 ± 3.3 years), including clinical and sleep study data, 2D cephalometrics, and 3D geometric morphometry analyses, based on CT-scans (mean age at CT-scan: patients, 4.9 ± 4.9 years; controls, 3.7 ± 4.2 years). RESULTS: Craniofacial phenotype was characterized by maxillo-zygomatic retrusion, deep nasal root, and prominent forehead. 2D cephalometric studies showed constant maxillo-mandibular retrusion, with excessive vertical dimensions of the lower third of the face, and modifications of cranial base angles. All patients with available CT-scan had premature fusion of skull base synchondroses. 3D morphometric analyses showed more severe craniofacial phenotypes associated with increasing patient age, predominantly regarding the midface-with increased maxillary retrusion in older patients-and the skull base-with closure of the spheno-occipital angle. At the mandibular level, both the corpus and ramus showed shape modifications with age, with shortened anteroposterior mandibular length, as well as ramus and condylar region lengths. We report a significant correlation between the severity of maxillo-mandibular retrusion and obstructive sleep apnea syndrome (p < 0.01). CONCLUSIONS: Our study shows more severe craniofacial phenotypes at older ages, with increased maxillomandibular retrusion, and demonstrates a significant anatomo-functional correlation between the severity of midface and mandible craniofacial features and obstructive sleep apnea syndrome.

Early formative objective structured clinical examinations for students in the pre-clinical years of medical education: A non-randomized controlled prospective pilot study.

BACKGROUND: The value of formative objective structured clinical examinations (OSCEs) during the pre-clinical years of medical education remains unclear. We aimed to assess the effectiveness of a formative OSCE program for medical students in their pre-clinical years on subsequent performance in summative OSCE. METHODS: We conducted a non-randomized controlled prospective pilot study that included all medical students from the last year of the pre-clinical cycle of the Université Paris-Cité Medical School, France, in 2021. The intervention group received the formative OSCE program, which consisted of four OSCE sessions, followed by debriefing and feedback, whereas the control group received the standard teaching program. The main objective of this formative OSCE program was to develop skills in taking a structured medical history and communication. All participants took a final summative OSCE. The primary endpoint was the summative OSCE mark in each group. A questionnaire was also administered to the intervention-group students to collect their feedback. A qualitative analysis, using a convenience sample, was conducted by gathering data pertaining to the process through on-site participative observation of the formative OSCE program. RESULTS: Twenty students were included in the intervention group; 776 in the control group. We observed a significant improvement with each successive formative OSCE session in communication skills and in taking a structured medical history (p<0.0001 for both skills). Students from the intervention group performed better in a summative OSCE that assessed the structuring of a medical history (median mark 16/20, IQR [15; 17] versus 14/20, [13; 16], respectively, p = 0.012). Adjusted analyses gave similar results. The students from the intervention group reported a feeling of improved competence and a reduced level of stress at the time of the evaluation, supported by the qualitative data showing the benefits of the formative sessions. CONCLUSION: Our findings suggest that an early formative OSCE program is suitable for the pre-clinical years of medical education and is associated with improved student performance in domains targeted by the program.

[Sommeil en temps de pandémie : enseignements pour la prise en charge de l'insomnie]. / Sleep in times of pandemic. Lessons for the management of insomnia.

"Sleep in times Of pandemic: lessons for the Management of insomnia. Sleep is both a determinant of health and a valuable Indicator of psychological impact in both personal and Global crisis situations. Results from the coconel (coronavirus. Containment longitudinal study) surveys, Conducted in the aftermath of the first 2020 sars-cov-2 Pandemic containment, show a significant increase in Sleep disturbance compared to previous data: significantly Increased prevalence compared to 2017 in women (from 66% to 81%) and even more in men (from 42% to 66%). Young people were particularly affected as well as economically Vulnerable people. The percentage of French People reporting regular use of hypnotics almost doubled (from 9% to 17%). Simple sleep hygiene rules can be provided to better cope With these periods of pandemic, stress and isolation. Thanks to the data acquired, these recommendations Could be refined, including the significant impact of Media exposure, a new prevention issue."

Order matters: sleep spindles contribute to memory consolidation only when followed by rapid-eye-movement sleep.

Sleep is known to benefit memory consolidation, but little is known about the contribution of sleep stages within the sleep cycle. The sequential hypothesis proposes that memories are first replayed during nonrapid-eye-movement (NREM or N) sleep and then integrated into existing networks during rapid-eye-movement (REM or R) sleep, two successive critical steps for memory consolidation. However, it lacks experimental evidence as N always precedes R sleep in physiological conditions. We tested this sequential hypothesis in patients with central hypersomnolence disorder, including patients with narcolepsy who present the unique, anti-physiological peculiarity of frequently falling asleep in R sleep before entering N sleep. Patients performed a visual perceptual learning task before and after daytime naps stopped after one sleep cycle, starting in N or R sleep and followed by the other stage (i.e. N-R vs. R-N sleep sequence). We compared over-nap changes in performance, reflecting memory consolidation, depending on the sleep sequence during the nap. Thirty-six patients who slept for a total of 67 naps were included in the analysis. Results show that sleep spindles are associated with memory consolidation only when N is followed by R sleep, that is in physiologically ordered N-R naps, thus providing support to the sequential hypothesis in humans. In addition, we found a negative effect of rapid-eye-movements in R sleep on perceptual consolidation, highlighting the complex role of sleep stages in the balance to remember and to forget.