Livio De Sanctis

Sleep-disordered breathing and its management in children with achondroplasia

Sleep‐disordered breathing is a common feature in children with achondroplasia. The aim of our study was to review the poly(somno)graphic (P(S)G) findings and consequent treatments in children with achondroplasia followed in the national reference center for skeletal dysplasia. A retrospective review of the clinical charts and P(S)G of 43 consecutive children (mean age 3.9 ± 3.5 years) with achondroplasia seen over a period of 2 years was performed. Twenty four (59%) children had obstructive sleep apnea (OSA). Thirteen children had an obstructive apnea‐hypopnea index (OAHI) < 5/hr, four had an OAHI between 5 and 10/hr, and seven had an OAHI ≥ 10/hr. Ten of the 15 children who had previous upper airway surgery still had an abnormal P(S)G. All the patients with an AHI ≥ 10/hr were under 7 years of age and none had a prior tonsillectomy. The children who underwent adeno‐tonsillectomy, coupled in most cases with turbinectomy, were significantly older (mean age 7.5 ± 3.5 vs. 3.5 ± 1.7 years old, P = 0.015) and had significantly better P(S)G results than those who underwent only adeno‐turbinectomy. No correlation was observed between the mean AHI value at the baseline P(S)G and the type of academic course (standard, supported or specialized). In conclusion, OSA is common in children with achondroplasia. The observation of a reduced prevalence of OSA after (adeno‐)tonsillectomy is in favor of this type of surgery when possible.

Sleep study as a diagnostic tool for unexplained respiratory failure in infants hospitalized in the PICU

Purpose: The aim of the study was to analyze the diagnostic and therapeutic value of a polygraphy (PG) in infants hospitalized for unexplained respiratory failure or life‐threatening events in the PICU. Material and methods: The PG of 13 infants (4 girls), mean age 6.8 ± 7.7 months, were analyzed. Results: Eight infants were admitted for unexplained respiratory failure and 5 for life‐threatening events. PG showed features suggestive of respiratory muscle weakness in 5 infants whose final diagnoses were nemaline rod myopathy (n = 2), congenital myasthenia (n = 2), and diaphragmatic dysfunction (n = 1). Four of these patients were successfully treated with noninvasive ventilation (NIV). PG was suggestive of brainstem dysfunction in 4 infants; 2 were treated successfully with NIV and another with caffeine. PG showed obstructive sleep apnea in 3 infants; 2 were treated successfully with NIV and one patient was lost during follow up. A typical pattern of congenital central hypoventilation syndrome was observed in the last patient who was treated successfully with invasive ventilation. One patient with diaphragmatic dysfunction and one with brain stem dysfunction died. Conclusions: PG may assist the diagnosis and guide the management of unexplained respiratory failure or life‐threatening events in infants hospitalized in the PICU.

Obstructive sleep apnea in Down syndrome: Benefits of surgery and noninvasive respiratory support

Children with Down syndrome are at increased risk of obstructive sleep apnea (OSA). The aim of the study was to describe the management of OSA in a large cohort of children with Down syndrome. A retrospective analysis of sleep studies and consequent management was performed for all consecutive Down syndrome patients evaluated between September 2013 and April 2016. The data of 57 patients were analyzed: 51/53 had an interpretable overnight polygraphy and 4 the recording of nocturnal gas exchange. Mean age at baseline sleep study was 6.2 ± 5.9 years. Eighteen patients (32%) had prior upper airway surgery. Mean apnea‐hypopnea index (AHI) was 14 ± 16 events/hr with 41 of the 51 (80%) patients having OSA with an AHI >1 event/hr and 20 patients (39%) having an AHI ≥10 events/hr. Consequently, eight patients (14%) had upper airway surgery. OSA improved in all patients except two who needed noninvasive respiratory support. Nineteen (33%) patients required noninvasive respiratory support. Mean age at noninvasive respiratory support initiation was 7 ± 7 years. On 11 patients with objective adherence data available, mean compliance at 2 ± 1 years of treatment was excellent with an average use per night of 8 hr46 ± 3 hr59 and 9 patients using the noninvasive respiratory support >4 hr/night. Noninvasive respiratory support was associated with an improvement of nocturnal gas exchange. The prevalence of OSA is high in Down syndrome. Upper airway surgery is not always able to correct OSA. Noninvasive respiratory support represents then an effective treatment for OSA and good compliance may be achieved in a majority of patients.

Parents of children referred to a sleep laboratory for disordered breathing reported anxiety, daytime sleepiness and poor sleep quality

We evaluated the impact that having a child with sleep‐disordered breathing had on their parents, including their own sleep quality.

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 (O2Hb) and deoxygenated (HHb) haemoglobin were reported. The relationships between ΔSpO2, ΔPtcCO2 and ΔTOI, ΔO2Hb 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 ΔO2Hb 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.