Francois Abel

Craniofacial syndromes and sleep-related breathing disorders

Children with craniofacial syndromes are at risk of sleep disordered breathing, the most common being obstructive sleep apnea. Midface hypoplasia in children with craniosynostosis and glossoptosis in children with Pierre Robin syndrome are well recognized risk factors, but the etiology is often multifactorial and many children have multilevel airway obstruction. We examine the published evidence and explore the current management strategies in these complex patients. Some treatment modalities are similar to those used in otherwise healthy children such as adenotonsillectomy, positive pressure ventilation and in the refractory cases, tracheostomy. However, there are some distinct approaches such as nasopharyngeal airways, tongue lip adhesion, mandibular distraction osteogenesis in children with Pierre Robin sequence, and midface advancement in children with craniosynostoses. Clinicians should have a low threshold for referral for evaluation of sleep-disordered-breathing in these patients.

Research Into Childhood Obstructive Sleep-Disordered Breathing: A Systematic Review

Background Despite recent clinical guideline development, the best pathway of care for children with symptoms of obstructive sleep‐disordered breathing (oSDB) is still debated. This systematic review aims to map the research in childhood oSDB that has been conducted so far to support further guideline development, identify evidence gaps, and guide future research. Methods A systematic search was performed in PubMed, EMBASE, and the Cochrane Library from inception to November 26, 2015. All publications on childhood oSDB were included, irrespective of type and language. The annual number of publications in the field of oSDB was counted over all years; for those published since January 1, 2011 (ie, the date of the latest literature search of the American Academy of Pediatrics guideline), total and annual numbers of publications across main research themes and methodologies were calculated. Results Of the 7,637 unique records retrieved, 5,871 publications were eligible for inclusion. There was an increase in annual publications since 2000, with 46% published since 2011. Most publications (61%) focused on individual treatment modalities, incidence, or prognosis. Few publications (2.7%) focused on health service delivery, outcomes, and health economics. Observational studies composed 78.5% of publications, 2.4% were randomized controlled trials, and 0.4% used a qualitative approach as their main methodology. Conclusions A recent surge in research activity into childhood oSDB has improved the knowledge base for this condition; however, the lack of health services, health economics, and outcomes research impacts the applicability of evidence informing current guidance and leaves important questions for future research. Registration PROSPERO: registration number CRD42015029291

What has been researched in childhood obstructive sleep-disordered breathing: a systematic review.

Background Despite recent clinical guideline development, the best pathway of care for children with symptoms of obstructive sleep‐disordered breathing (oSDB) is still debated. This systematic review aims to map the research in childhood oSDB that has been conducted so far to support further guideline development, identify evidence gaps, and guide future research. Methods A systematic search was performed in PubMed, EMBASE, and the Cochrane Library from inception to November 26, 2015. All publications on childhood oSDB were included, irrespective of type and language. The annual number of publications in the field of oSDB was counted over all years; for those published since January 1, 2011 (ie, the date of the latest literature search of the American Academy of Pediatrics guideline), total and annual numbers of publications across main research themes and methodologies were calculated. Results Of the 7,637 unique records retrieved, 5,871 publications were eligible for inclusion. There was an increase in annual publications since 2000, with 46% published since 2011. Most publications (61%) focused on individual treatment modalities, incidence, or prognosis. Few publications (2.7%) focused on health service delivery, outcomes, and health economics. Observational studies composed 78.5% of publications, 2.4% were randomized controlled trials, and 0.4% used a qualitative approach as their main methodology. Conclusions A recent surge in research activity into childhood oSDB has improved the knowledge base for this condition; however, the lack of health services, health economics, and outcomes research impacts the applicability of evidence informing current guidance and leaves important questions for future research. Registration PROSPERO: registration number CRD42015029291

The role of sleep diagnostics and non-invasive ventilation in children with spinal muscular atrophy

Spinal muscular atrophy (SMA) is a degenerative motor neurone disorder causing progressive muscular weakness. Without assisted ventilation or novel therapies, most children with SMA type 1 die before the second year of life due to respiratory failure as the respiratory muscles and bulbar function are severely affected. Active respiratory treatment (mechanically assisted cough, invasive or non-invasive ventilation) has improved survival significantly in recent decades, but often at the cost of becoming ventilator dependent. The advent of a new oligonucleotide based therapy (Nusinersen) has created new optimism for improving motor function. However, the long-term effect on respiratory function is unclear and non-invasive respiratory support will remain an important part of medical management in patients with SMA. This review summarises the existing knowledge about sleep-disordered breathing and respiratory failure in patients with SMA, especially type 1, as well as the evidence of improved outcome and survival in patients treated with non-invasive or invasive ventilation. Practical considerations and ethical concerns are delineated with discussion on how these may be affected by the advent of new therapies such as Nusinersen.

Hypoventilation disproportionate to OSAS severity in children with Prader-Willi syndrome

Objective To test the hypothesis that children with Prader-Willi syndrome (PWS) and obstructive sleep apnoea syndrome (OSAS) have hypercapnia for higher proportion of total sleep time (TST) than non-syndromic children with similar obstructive apnoea–hypopnoea index (OAHI). Design Cross-sectional study. Setting Two tertiary care hospitals. Patients Patients with PWS and non-syndromic children with snoring who underwent polygraphy and were of similar age, body mass index (BMI) z-score and OAHI. Main outcome measure The two groups were compared regarding %TST with transcutaneous CO2 (PtcCO2) >50 mm Hg. The interaction between PWS diagnosis and OSAS severity (OAHI <1 episode/h vs 1–5 episodes/h vs >5 episodes/h) regarding %TST with PtcCO2 >50 mm Hg was tested using multiple linear regression. Results 48 children with PWS and 92 controls were included (median age 2.3 (range 0.2–14.1) years vs 2.2 (0.3–15.1) years; BMI z-score 0.7±1.9 vs 0.8±1.7; median OAHI 0.5 (0–29.5) episodes/h vs 0.5 (0–33.9) episodes/h; p>0.05). The two groups did not differ in %TST with PtcCO2 >50 mm Hg (median 0% (0–100%) vs 0% (0–81.3%), respectively; p>0.05). However, the interaction between PWS and OSAS severity with respect to duration of hypoventilation was significant (p<0.01); the estimated mean differences of %TST with PtcCO2 >50 mm Hg between children with PWS and controls for OAHI <1 episode/h, 1–5 episodes/h and >5 episodes/h were +0.2%, +1% and +33%, respectively. Conclusion Increasing severity of upper airway obstruction during sleep in children with PWS is accompanied by disproportionately longer periods of hypoventilation when compared with non-syndromic children with similar frequency of obstructive events.

Question 6: Is there a role for Mannose-Binding Lectin measurement in Cystic Fibrosis management?

Bernadette Prentice *, Karen McKay , Hiran Selvadurai , Paul D. Robinson , Francois Abel , Dominic A. Fitzgerald 2,3 Advanced Trainee Paediatric Respiratory and Sleep Medicine, The Sydney Children’s Hospital Network Department of Respiratory Medicine, The Children’s Hospital at Westmead Discipline of Paediatrics & Child Health, Sydney Medical School, The University of Sydney Department of Respiratory Medicine, Great Ormond Street Hospital For Children, London