Joanna E. MacLean

The spectrum of sleep-disordered breathing symptoms and respiratory events in infants with cleft lip and/or palate

Objective To determine the prevalence of sleep-disordered breathing (SDB) symptoms and respiratory events during sleep in infants with cleft lip and/or palate (CL/P). Design Prospective observational study. Setting Cleft palate clinic, tertiary care paediatric hospital, before palate surgery. Patients Consecutive newborn infants with CL/P. Main outcome measures Demographics, clinical history, sleep symptoms, facial measurement and polysomnography (PSG; sleep study) data. Results Fifty infants completed PSG at 2.7±2.3 months; 56% were male, and 30% had a clinical diagnosis of Pierre Robin sequence (PRS) or a syndrome. The majority of infants (75%) were reported to snore frequently or constantly, while 74% were reported to have heavy or loud breathing during sleep. The frequency of parent-reported difficulty with breathing during sleep was 10% for infants with isolated CL/P, 33% for those with syndrome, and 43% for PRS (χ2 16.1, p<0.05). All infants had an Obstructive–Mixed Apnoea–Hypopnoea Index (OMAHI) >1 event/h, and 75% had an OMAHI >3 events/h. Infants with PRS had higher OMAHI (34.3±5.1) than infants with isolated CL/P (7.6±1.2) or infants with syndromes (15.6±5.7, F stat, p<0.001). Multivariate analysis showed that PRS was associated with higher OMAHI (B 0.53±0.22, p=0.022), but the majority of the variance for SDB was unexplained (constant B 1.31±0.55, p=0.024). Conclusions The results highlight that infants across the spectrum of CL/P have a high risk of SDB symptoms and obstructive respiratory events before palate surgery. Clinicians should enquire about symptoms of SDB and consider investigation with polysomnography in all infants with CL/P.

Developmental changes in sleep and breathing across infancy and childhood

Sleep and breathing are physiological processes that begin in utero and undergo progressive change. While the major period of change for both sleep and breathing occurs during the months after birth, considered a period of vulnerability, more subtle changes continue to occur throughout childhood. The systems that control sleep and breathing develop separately, but sleep represents an activity state during which breathing and breathing control is significantly altered. Infants and young children may spend up to 12 hours a day sleeping; therefore, the effects of sleep on breathing are fundamental to understanding both processes in childhood. This review summarizes the current literature relevant to understanding the normal development of sleep and breathing across infancy and childhood.

Impact of Sleep and Breathing in Infancy on Outcomes at Three Years of Age for Children with Cleft Lip and/or Palate

STUDY OBJECTIVES To evaluate the relationship between sleep disordered breathing (SDB) in early infancy and outcomes at 3 years of age in children with cleft lip and/or palate (CL/P). DESIGN Observational follow-up study. SETTING Multidisciplinary CL/P clinic, tertiary centre. PARTICIPANTS Children with CL/P who participated in a study of sleep and breathing in infancy. MEASUREMENTS AND RESULTS The families of 52 children were approached for this follow-up study. The children underwent neurocognitive (Bayley Scales of Infant and Toddler Development, Third Edition; BSID-III), quality of life (Infant/Toddler Quality of Life Questionnaire; ITQOL), and growth assessments at 3 years. The families of 33 children (66%) completed follow-up at 36.7 ± 1.4 months. The apnea-hypopnea index (AHI) in infancy was 23.9 ± 18.0 events/h. Mean group BSID-III scores fell within the standardized normal range (10 ± 3) for all domains; however, language scores were lower than control children. Quality of life scores and growth parameter z-scores were similar to published control data. PSG variables in infancy showed significant relationships with outcomes at 3 years of age; lower percentage of AS/REM sleep was associated with lower cognition score; more obstructive events were associated with lower global behavior ITQOL score; and higher number of respiratory events in infancy was associated with lower weight z-score. CONCLUSION Neurocognition, quality of life, and growth measures from children with CL/P fall within a normal range; however, scores in the language domain are lower than controls. Sleep and respiratory elements of SDB in infancy appear to modify these outcomes at 3 years of age.

Cystic fibrosis newborn screening does not delay the identification of cystic fibrosis in children with negative results

BACKGROUND Several studies have demonstrated the benefit of Cystic Fibrosis Newborn Screening (CFNBS) for early diagnosis and, hence, intervention but the impact of CFNBS on those children not detected on CFNBS is not known. CFNBS may provide false reassurance that all CF has been detected and, therefore, lead to a delay in the diagnosis of children with CF which is not detected on CFNBS. The aim of this study was to determine the impact of CFNBS on the presenting features of children with CF where CF was not detected on CFNBS. METHODS Subjects at the CFNBS center were selected if CF was identified subsequent to a negative CFNBS with subjects at the No CFNBS selected based on the absence of ΔF508 mutations. Children presenting with features that would lead to investigation for CF independent of clinical status were excluded. Presenting features at diagnosis and pulmonary function at 6 years of age were extracted from medical records. RESULTS Twelve children from the CFNBS site and 19 from the No CFNBS site were included in the analysis. The only significant difference between the two in features at diagnosis was lower mean weight z-scores at the No CFNBS site (-2.9 ± 1.8) compared to the CFNBS center (-1.4 ± 1.3, p<0.05). Age at diagnosis, presenting complaint and nutritional status did not differ by site. Growth parameters and pulmonary function at 6years of age showed no differences between sites. CONCLUSIONS This study demonstrates that access to CFNBS does not result in delay in diagnosis or poorer outcomes in those children for whom CF was not detected on CFNBS. In addition, children with CF not detected on CFNBS present with typical features of CF and sweat chloride results that are diagnostic of CF.

Long-term non-invasive ventilation therapies in children: A scoping review

Long-term non-invasive ventilation (NIV) is a common modality of breathing support used for a range of sleep and respiratory disorders. The aim of this scoping review was to provide a summary of the literature relevant to long-term NIV use in children. We used systematic methodology to identify 11,581 studies with final inclusion of 289. We identified 76 terms referring to NIV; the most common term was NIV (22%). Study design characteristics were most often single center (84%), observational (63%), and retrospective (54%). NIV use was reported for 73 medical conditions with obstructive sleep apnea and spinal muscular atrophy as the most common conditions. Descriptive data, including NIV incidence (61%) and patient characteristics (51%), were most commonly reported. Outcomes from sleep studies were reported in 27% of studies followed by outcomes on reduction in respiratory morbidity in 19%. Adverse events and adherence were reported in 20% and 26% of articles respectively. Authors reported positive conclusions for 73% of articles. Long-term use of NIV has been documented in a large variety of pediatric patient groups with studies of lower methodological quality. While there are considerable data for the most common conditions, there are fewer data to support NIV use for many additional conditions.

Full-night versus 4 h evening polysomnography in children less than 2 years of age

OBJECTIVE Pediatric polysomnogaphy (PSG) is associated with significant burden in terms of personnel time, resource use, and patient/family discomfort. We hypothesized that 4-h abbreviated PSG may be a suitable alternative to full-night PSG in children 24months of age and younger. METHODS PSG results from the first 4-h were compared to the full-length studies from 105 children. Outcomes included total, obstructive, and central apnea indices. Sleep disordered breathing (SDB) was defined as an apnea-hypopnea index (AHI) >1.5events/h and obstructive sleep apnea (OSA) was defined as an obstructive AHI>1.5 events/h. Cutoffs for central apneas were 3events/h for subjects >6months of age and 10events/h for subjects ⩽6months of age. RESULTS All but one subject had abnormal SDB by the full-night PSG and all individuals had at least one REM period in the first 4h of sleep. Mean oxygen saturations and end-tidal CO(2), did not significantly differ between full-night and 4-h PSG. 4-h PSG showed high sensitivity for total AHI (100% for ⩽6months and 92.9% for >6months respectively), obstructive AHI (97.9%; 91.1% respectively), and central apnea index (100%; 72.2% respectively). Agreement was lower for those with lower AHI. CONCLUSIONS The high prevalence of SDB observed suggests that the goals of PSG in this age group at our center may be to determine the type and severity of SDB rather than presence or absence. The high sensitivity between full-night and 4-h PSG supports the use of 4-h PSG in children 24months and under, especially those ⩽6months of age.

Assessing ventilatory control in infants at high risk of sleep disordered breathing: A study of infants with cleft lip and/or palate†

Neonatal exposure to intermittent hypoxia results in altered ventilatory response to subsequent hypoxia in animal models. The effect of similar exposure in human infants is unknown. Our objective was to determine the impact of sleep disordered breathing (SDB) in early infancy on ventilatory response in infants. We recruited consecutive infants with cleft lip and/or palate (CL/P) to undergo ventilatory response testing using exposure to a hypoxic (15% O2) gas mixture during sleep. This population is at high risk of SDB because of smaller airway caliber and abnormal palatal muscle attachments predisposing them to airway obstruction of ranging severity from birth. Ventilatory responses were compared between infants with a low apnea–hypopnea index (AHI; AHI < 15 events/hr) and a high AHI (AHI ≥ 15 events/hr). Testing was successfully completed in 22 of 23 infants who underwent testing at 4.4 ± 4.8 months. Infants with high AHI had lower weight z‐scores, higher number of oxygen desaturation events during sleep, but similar oxygen saturation (SpO2) nadir compared to infants with low AHI. The pattern of ventilatory response to hypoxia differed between the two groups; infants with high AHI had an earlier ventilatory decline and a blunted maximal ventilatory response to hypoxia. Infants with a high AHI use a different strategy to augment ventilation in response to hypoxia; while infants with a low AHI initially increased respiratory rate, tidal volume was the first parameter to increase in infants with high AHI. These results demonstrate that SDB in infancy is associated with altered ventilatory response to hypoxia. Pediatr Pulmonol. 2013; 48:265–273.

Surgical Versus Nonsurgical Interventions to Relieve upper Airway Obstruction in Children with Pierre Robin Sequence

BACKGROUND Newborns with Pierre Robin sequence (PRS) often experience chronic intermittent hypoxemia/hypoventilation associated with airway obstruction. The heterogeneity of the severity of upper airway obstruction makes management a challenge; the optimal intervention in individual cases is not clear. OBJECTIVE To investigate the prevalence of surgical/nonsurgical interventions for PRS at two childrens hospitals. Patient characteristics and outcomes were examined. METHODS The present retrospective chart review identified 139 patients with PRS born between 2000 and 2010. Demographic information, mode of airway management, associated anomalies and syndromes, polysomnography results, length of intensive care unit and hospital stay, complications and deaths were extracted. RESULTS Interventions included prone positioning (alone [61%]), tongue-lip adhesion (45%), nasopharyngeal intubation (28%), continuous positive airway pressure (20%), tracheostomy (19%) and mandibular distraction osteogenesis (5%). Tracheostomies were more prevalent in syndromic patients (P=0.03). Patients who underwent tracheostomy had a lower birth weight (P=0.03) compared with newborns with other interventions. Patients who underwent surgical interventions had longer intensive care unit stays (P<0.001). No intervention was associated with a statistically significant likelihood of requiring a subsequent intervention. Thirty percent of patients underwent polysomnography, with a higher proportion of these using continuous positive airway pressure (n=15) (P<0.01). CONCLUSIONS In the present descriptive study, patients with syndromic PRS or low birth weight underwent early intervention, which included a tracheostomy. Objective measures of airway obstruction were underutilized. Decision making regarding evaluation and management of upper airway obstruction in this population remains clinician and resource dependent. Reporting data obtained from a large cohort of PRS patients is important to compare experiences and motivate future studies investigating this complex condition.

Long-term non-invasive ventilation therapies in children: a scoping review protocol

Introduction Non-invasive ventilation (NIV) in children has become an increasingly common modality of breathing support where pressure support is delivered through a mask interface or less commonly through other non-invasive interfaces. At this time, NIV is considered a first-line option for ventilatory support of chronic respiratory insufficiency associated with a range of respiratory and sleep disorders. Previous reviews on the effectiveness, complications and adherence to NIV treatment have lacked systematic methods. The purpose of this scoping review is to provide an overview of the evidence for the use of long-term NIV in children. Methods and analysis We will use previously established scoping methodology. Ten electronic databases will be searched to identify studies in children using NIV for longer than 3 months outside an intensive care setting. Grey literature search will include conference proceedings, thesis and dissertations, unpublished trials, reports from regulatory agencies and manufacturers. Two reviewers will independently screen titles and abstracts for inclusion, followed by full-text screening of potentially relevant articles to determine final inclusion. Data synthesis will be performed at three levels: (1) an analysis of the number, publication type, publication year, and country of publication of the studies; (2) a summary of the study designs, outcomes measures used; (3) a thematic analysis of included studies by subgroups. Ethics and dissemination This study will provide a wide and rigorous overview of the evidence on the use of long-term NIV in children and provide critical information for healthcare professionals and policymakers to better care for this group of children. We will disseminate our findings through conference proceedings and publications, and evaluate the results for further systematic reviews and meta-analyses.

Changes to a pediatric sleep disordered breathing clinic improve wait-times and clinic efficiency.

Recognition of the impact of sleep disordered breathing (SDB) on health has increased referrals in pediatric respiratory medicine with a concomitant increase in wait‐times.