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Spinal muscular atrophy [SMA] is the most common genetic cause of childhood mortality, primarily from the most severe form SMA type 1. It is a severe, progressive motor neurone disease, affecting the lower brainstem nuclei and the spinal cord. There is a graded level of severity with SMA children from a practical viewpoint described as "Non-sitters", "Sitters" and less commonly, "Ambulant" correlating with SMA Type 0/Type 1, Type 2 and Type 3 respectively. Children with SMA Type 0 have a severe neonatal form whilst those with SMA Type 1 develop hypoventilation, pulmonary aspiration, recurrent lower respiratory tract infections, dysphagia and failure to thrive before usually succumbing to respiratory failure and death before the age of 2 years. The recent introduction of the antisense oligonucleotide nusinersen into clinical practice in certain countries, following limited trials of less than two years duration, has altered the treatment landscape and improved the outlook considerably for SMN1 related SMA. Approximately 70% of infants appear to have a clinically significant response to nusinersen with improved motor function. It appears the earlier the treatment is initiated the better the response. There are other rarer genetic forms of SMA that are not treated with nusinersen. Clinical expectations will change although it is unclear as yet what the extent of response will mean in terms of screening initiatives [e.g., newborn screening], "preventative strategies" to maintain respiratory wellbeing, timing of introduction of respiratory supports, and prolonged life expectancy for the subcategory of children with treated SMA type 1. This article provides a review of the strategies available for supporting children with respiratory complications of SMA, with a particular emphasis on SMA Type 1., (Crown Copyright © 2018. Published by Elsevier Ltd. All rights reserved.)

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., (Copyright © 2018 Elsevier Ltd. All rights reserved.)

Neuromuscular disorders in children are a heterogeneous group of conditions with a variable age of presentation and overlapping clinical manifestations, many of which have progressive respiratory morbidity. Respiratory insufficiency occurs as a consequence of an imbalance between demands on the respiratory system and respiratory muscle capacity. Daytime measures of pulmonary function are used routinely in these children to assess respiratory status and monitor the consequences of the progression of muscle weakness. This review describes the current evidence for daytime pulmonary function tests and their ability to predict imminent respiratory morbidity., (Crown Copyright © 2015. Published by Elsevier Ltd. All rights reserved.)

Down syndrome is associated with a significant health burden, which is particularly apparent in young children who will frequently present with cardiac and respiratory problems. Respiratory presentations include problems related to structural abnormalities of the airways and lungs, glue ears, recurrent lower respiratory tract infections and obstructive sleep apnoea. These conditions are readily identifiable and able to be treated. An awareness of the breadth of respiratory problems and a plan to monitor patients with Down syndrome for their development has the potential to improve outcomes., (© 2011 The Authors. Journal of Paediatrics and Child Health © 2011 Paediatrics and Child Health Division (Royal Australasian College of Physicians).)

Allergic bronchopulmonary aspergillosis (ABPA) is an uncommon condition which may complicate asthma and cystic fibrosis; it is seldom considered life-threatening. We report a well 8-year-old boy with cystic fibrosis and normal lung function who progressed to respiratory failure over several days, attributable to ABPA. He recovered with non-invasive ventilation and oral corticosteroid and antifungal medications, regaining normal lung function within 2 months. To our knowledge, such an acute severe presentation of ABPA in a previously well child has not been reported before.

Background: Because of the association between prone positioning and sudden infant death syndrome SIDS) it is recommended that young infants be placed on their backs (supine). However, the supine position might not be the most appropriate position for infants and children hospitalised with acute respiratory distress. Positioning patients has been proposed as a non-invasive way of increasing oxygenation in adult patients with acute respiratory distress. But, because of substantial differences in respiratory mechanics between adults and children and the risk of SIDS in young infants, a specific review of positioning for infants and young children with acute respiratory distress is warranted., Objectives: To compare the effects of different body positions in hospitalised infants and children with acute respiratory distress., Search Strategy: We searched the Cochrane Central Register of Controlled Trials (CENTRAL) (The Cochrane Library Issue 3, 2004); MEDLINE (January 1966 to October Week 3, 2004); EMBASE (1980 to week 24, 2004); and CINAHL (1982 to October Week 3, 2004)., Selection Criteria: All randomised or systematically-allocated controlled clinical trials comparing two or more positions in the management of infants and children hospitalised with acute respiratory distress., Data Collection and Analysis: Data were extracted from each study independently by two authors. Differences were resolved by consensus or referral to a third author. Continuous outcomes were analysed using a weighted mean difference and 95% confidence interval. No bivariate outcomes were available. All but one included study reported crossover data therefore this data was used for meta-analysis. Fixed-effect models were used unless heterogeneity was significant (p value equal to or less than 0.1), in which case a random-effects model was used., Main Results: Forty-nine papers were selected for this review of which 21 studies (22 publications) were included. These studies compared prone, supine, lateral, elevated, and flat positions. Prone positioning was significantly more beneficial than supine positioning in terms of oxygen saturation, partial pressure of arterial oxygen, oxygenation index, thoraco-abdominal synchrony, and episodes of desaturation. There were no statistically significant differences between any other positions., Authors' Conclusions: The prone position was significantly superior to the supine position in terms of oxygenation. However, as most patients included in the meta-analysis were ventilated, preterm infants the benefits of prone positioning may be most relevant to these infants. In addition, although placing infants and children in the prone position may improve respiratory function, the association of sudden infant death with prone positioning means that infants should only be placed in this position if continuous cardiorespiratory monitoring is used.

Objective: To determine whether 4 years of colonization with a novel Australian cluster strain (The 'Hunter' strain) of Burkholderia cepacia (B. cepacia) in cystic fibrosis (CF) patients was associated with more rapid decline in nutritional status and pulmonary function than in non-colonized contemporaries from the same CF clinic., Methodology: A retrospective review of respiratory function and nutritional data from a single multidisciplinary paediatric CF clinic over 4 years (1993-97)., Results: Paired spirometry data for 1993 and 1997 were available in 47 patients without (n = 31) and with B. cepacia (n = 16) colonization (mean (+/- SD) ages in 1993: 12.1 years +/- 4.0 vs 12.6 years +/- 6.5; P = 0.83). Their percentage predicted forced expiratory volume in 1 s (FEV1) (94.2% +/- 16.7 vs 85.9% +/- 21.2; P = 0.19) were not significantly different. The averaged annual fall in FEV1 over 4 years was also not significantly different (3.8% +/- 3.8 vs 3.6% +/- 3.7; P = 0.82). Weight percentile (Wt%), height percentile (Ht%) and percentage age weight for height (%WFH) were not significantly different between groups in 1993. By 1997, Wt% (36.7% +/- 25.1 vs 22.3% +/- 19.6; P = 0.04) and Ht% (42.5% +/- 29.6 vs 17.6% +/- 19.4; P = 0.002) but not %WFH (102% +/- 10.0 vs 106% +/- 11.2; P > 0.10) were lower in subjects with B. cepacia., Conclusions: In adolescent CF patients, colonization with the Hunter strain of B. cepacia was associated with a deterioration in some nutritional parameters but not with an accelerated decline in FEV1 over 4 years. As varying pathogenicity of B. cepacia strains may account for differing rates of pulmonary decline, further assessment of the consequences of colonization with certain strains of B. cepacia in CF is needed.