Understanding the ongoing learning needs of Australian paediatricians: Evaluation of a pilot paediatric video teaching programme.

AIM: The purpose of this study was to evaluate whether pre-recorded video-based lectures (VBLs) covering a range of paediatric topics are an acceptable means of providing ongoing education for consultant and trainee paediatricians in Australia. METHODS: Previous participants (paediatric consultants and junior medical officers) of a neurology outreach teleconference programme offered by a paediatric neurologist between 2017 and 2020 were invited to participate in a multi-specialty pre-recorded video-based education programme. Acceptability was explored by assessing relevance, likelihood of utilising VBL's in the future, uptake and learning activity preferences. The impact of VBLs on confidence, currency and practice was also explored. Additional data including topics of interest, preferred video format, duration, viewing method and frequency of delivery were captured, to better understand participant preferences to inform future efforts. RESULTS: A total of 135 consented; 116 returned baseline; 94 returned follow-up surveys. Preferred learning activities included a live/interactive component. Videos were considered relevant. Preferences for pre-recorded videos improved from ninth to sixth most preferred learning activity post-intervention. VBL convenience and accessibility were valued. Practice was altered in: approach to management, use of treatments, confidence in decision-making, and discussion with families and patients. The average view duration was 16 min. Longer videos yielded slightly lower audience retention rates. For future offerings, the majority endorsed a preference for a 'mixed' video format and duration of 20-40 min, offered monthly. CONCLUSION: Video-based medical education is an appealing and sustainable alternative, given the convenience of unrestricted accessibility, in meeting ongoing learning needs of Australian paediatricians and trainees.

Convergent validity of the child behavior checklist sleep items in children with moderate to severe traumatic brain injury.

AIM: The Child Behavior Checklist (CBCL) includes several sleep items. We aimed to examine the convergent validity of CBCL sleep scores with validated sleep measures, and to explore their functional correlates. METHODS: This cross-sectional study included 44 children with moderate to severe TBI, aged 6-15 years. Parents completed the CBCL and Sleep Disturbance Scale for Children (SDSC), and children wore actigraphy watches. RESULTS: We found significant, albeit differential, associations between CBCL and SDSC sleep scores. Specifically: (i) "trouble sleeping" with SDSC total score, (ii) "trouble sleeping" and "nightmares" with SDSC initiating and maintaining sleep, (iii) "talks/walks in sleep" with SDSC arousal, and (iv) "overtired," "sleeps more" and CBCL sleep composite with SDSC excessive somnolence. The CBCL item "sleeps less" was the only significant predictor of functioning; children who slept less had lower social competence. No associations were found between CBCL sleep scores and actigraphy. CONCLUSIONS: The CBCL does not provide a comprehensive assessment of sleep disturbances in children with moderate to severe TBI. Nevertheless, certain CBCL sleep items demonstrate initial convergent validity with subscales of the SDSC assessing select types of sleep disturbances. The CBCL may be useful in research and clinical situations when administration of more comprehensive assessment sleep tools is not viable.

Real-world respiratory and bulbar comorbidities of SMA type 1 children treated with nusinersen: 2-Year single centre Australian experience.

AIM: To describe the respiratory and nutritional supportive care and hospitalisations required in the real-world scenario in children with SMA type 1 treated with nusinersen. METHODS: Single-centre observational cohort study of children with SMA1 commencing nusinersen from November 2016 to September 2018. Motor, respiratory and nutritional clinical characteristics and management are described from initiation of nusinersen for a minimum of two years. RESULTS: Nine children (5 females, 4 males), median age 10.7 months (range 2.7-181.2) commenced treatment with nusinersen and outcomes were assessed over a total of 270.5 patient months and 209 hospital admissions. Supportive care in newly-diagnosed patients (n = 7) included gastrostomy insertion (n = 4) and commencement of noninvasive ventilation (n = 4) at an average of 8.3 and 4.5 months after diagnosis, respectively. The annualised hospitalisation rate was 9.3/patient/year, average length of stay (LOS) of 3.3 days (SD = 5.6). Children with two SMN2 copies required more gastrostomies (p < 0.05) and had more frequent admissions (p < 0.05). Number of total admissions halved from the first to the second year of treatment in all patients (p < 0.005). INTERPRETATION: Children with treated SMA1 experienced considerable respiratory and bulbar comorbidities, necessitating substantial respiratory and nutritional supportive care. Proactive respiratory and nutritional surveillance and management is essential in SMA1 patients treated with nusinersen.

Fatigue in Children With Moderate or Severe Traumatic Brain Injury Compared With Children With Orthopedic Injury: Characteristics and Associated Factors.

OBJECTIVE: To characterize fatigue in children with moderate or severe traumatic brain injury (TBI) and to identify associated factors. SETTING: Urban tertiary pediatric healthcare facility. PARTICIPANTS: Children aged 5 to 15 years with a moderate TBI (n = 21), severe TBI (n = 23), or an orthopedic injury (OI; n = 38). DESIGN: Case-control study. MAIN MEASURES: (i) Pediatric Quality of Life Inventory Multidimensional Fatigue Scale (PedsQL-MFS), completed by parents and children; (ii) Sleep Disturbance Scale for Children, completed by parents. Data on injury-specific factors and other factors of interest were also collected. RESULTS: The 2 TBI groups did not differ on any of the fatigue outcomes (child or parent ratings). Relative to the OI group, parents rated children in both TBI groups as experiencing greater fatigue. However, on self-ratings, only children with moderate TBI endorsed greater fatigue. Sleep was commonly associated with fatigue, with child sleep disturbance and child sleep hygiene associated with parent-rated and self-rated child fatigue, respectively. Individually, there were no cases of "normal" fatigue coinciding with severe sleep disturbance. However, there were several cases of severe fatigue coinciding with normal sleep. Additional factors associated with fatigue were older age at injury, longer time since injury, and/or greater internalizing difficulties. CONCLUSION: Children with moderate and severe TBI experience greater fatigue than OI controls. Parent and child ratings of fatigue appear to be associated with different factors, indicating that fatigue management may require a broad range of treatments.

Propranolol's effects on the sleep of infants with hemangiomas: A prospective pilot study.

OBJECTIVE: To assess propranolol's impact on sleep when used in infants and toddlers with infantile hemangioma (80% under 6 months old). METHODS: Parents and caregivers of infants and toddlers with infantile hemangioma presenting to a tertiary pediatric hospital's dermatology clinic and assessed by their dermatologist as requiring propranolol treatment were invited to participate. All participants completed an extended version of the Brief Infant Sleep Questionnaire (BISQ) prior to propranolol treatment initiation, which acted as the control, and 5 weeks after treatment commencement. Objective data were gathered through actigraphy, which utilizes a small wristwatch-like device that measures sleep-wake patterns, for 1 week prior to initiation and again 5 weeks after commencement. BISQ responses and actigraphy values from the two time points were compared. RESULTS: 55 infants and toddlers (aged 0-2.8 years, 80% under 6 months) were included. Sleep was reported as only a minor problem by most parents 5 weeks after starting propranolol (P = .049). Subgroup analysis of 45 infants <6 months old showed no significant difference in sleep while taking propranolol. Whole cohort BISQ data analysis showed a statistically significant increase in night-time sleep (P = .024), and a decrease in the number (P = .003) and duration of daytime naps (P = .025) following commencement of propranolol. Actigraphy data completed in 10 infants showed no significant difference in sleep quality before and 5 weeks after commencing propranolol. CONCLUSION: Propranolol did not significantly impair sleep quality and pattern in our cohort of infants and toddlers with infantile hemangioma. Most parents considered the impact on sleep to be only a minor problem.

Children who sustained traumatic brain injury take longer to fall asleep compared to children who sustained orthopedic injuries: actigraphy findings.

Objective:Primary: to examine objective sleep outcomes in children who sustained moderate to severe traumatic brain injury (TBI). Secondary: to examine the relation of objective sleep with subjective sleep, fatigue, and injury variables.Setting: A single tertiary brain injury unit.Participants: Children (5-15 years) with moderate to severe TBI (n = 23) or orthopedic injury (OI; n = 13).Design: Cohort study.Measures: Primary: objective sleep measure (actigraphy watch). Secondary: subjective sleep measure (questionnaire), fatigue questionnaire, and injury variables.Results: On actigraphy, children with TBI had longer sleep onset latency compared to children with OI. On the sleep questionnaire, children with TBI obtained higher scores for total sleep disturbance, initiating and maintaining sleep, and excessive somnolence. On the fatigue questionnaire, greater difficulties were found for total, sleep/rest, and cognitive fatigue for the TBI group. In the TBI group, actigraphy data did not correlate with sleep questionnaire, fatigue, or injury variables.Conclusion: Our study showed evidence of objective and subjective sleep disturbance in children with moderate to severe TBI, but these two types of sleep measures were not related. It is possible that distinct mechanisms underpin objective and subjective sleep disturbance, which may require different interventions.

A feasibility and acceptability study of cognitive behavioural treatment for insomnia in adolescents with traumatic brain injury: A-B with follow up design, randomized baseline, and replication across participants.

Difficulties falling asleep or staying asleep (symptoms of insomnia) are common following paediatric traumatic brain injury (TBI). Yet, interventions to treat insomnia in this population have not yet been reported. This single-case series examined the feasibility and acceptability of cognitive behavioral treatment for insomnia (CBT-I) for adolescents (n = 5, aged 11-13 years) with TBI, and explored changes in sleep and fatigue post-treatment. Adolescents were randomly assigned to two conditions: a 7- or 14-days baseline, followed by 4 weeks of manualised CBT-I delivered individually. To assess feasibility and acceptability we compared recruitment and retention rates, and questionnaire scores to a-priori set criteria. We explored treatment efficacy and functional gains in sleep and fatigue from baseline to follow-up using structured visual analysis of time-series graphs, and reliable change indices or changes in clinical classification. Feasibility and acceptability indicators met a-priori criteria, but therapists noticed limited adolescent engagement in sessions. Clinically significant improvements were found in sleep, in 3 out of 4 cases, and fatigue, in all cases. Our study provides preliminary evidence that CBT-I is feasible for insomnia treatment in adolescents with TBI and provides directions for development of future treatment studies.

Comparison of nocturnal pulse oximetry with polysomnography in children with sleep disordered breathing.

PURPOSE: Polysomnography (PSG) is the gold standard in the diagnosis of obstructive sleep apnea (OSA). However, due to high cost and limited availability, this is difficult to access and often delayed. To evaluate the reliability of overnight oximetry as a screening tool for OSA diagnosis. METHOD: All children suspected of OSA who underwent an overnight oximetry and subsequent PSG between January 2014 and April 2016 were studied retrospectively. The "McGill oximetry scoring" was compared with OSA diagnosis as per the American Association of Sleep Medicine. RESULTS: A total of 110 patients had both oximetry and PSG. Sixty-one children (56%) had normal oximetry, whereas 30 (27%) had McGill grade 2 and 19 (17%) had McGill 3 and 4. Sixty-four percent (64%) of children with normal oximetry had a normal PSG. Seventy percent (70%) of children with McGill 2 had either a normal or mild OSA on PSG. All the children with McGill 3 and 4 had moderate/severe OSA by PSG. The overall sensitivity and specificity of oximetry in identifying OSA were 63% and 78%, respectively, and the positive and negative predictive values (PPV and NPV) were 78% and 64%, respectively. The sensitivity and specificity of McGill 3 and 4 in diagnosing moderate/severe OSA on PSG were 59% and 100%, respectively, and the PPV and NPV were 100% and 78%, respectively. CONCLUSION: Overnight oximetry provides satisfactory diagnostic performance in detecting moderate and severe OSA; however, a normal or McGill 2 score does not rule out OSA and a PSG is required for diagnosis.

Quantitative assessment of nocturnal neural respiratory drive in children with and without obstructive sleep apnoea using surface EMG.

NEW FINDINGS: What is the central question of this study? Recent studies have suggested potential utility of non-normalized respiratory muscle EMG as an index of neural respiratory drive (NRD). Whether NRD measured using non-normalized surface EMG of the lateral chest wall overlying the diaphragm (sEMGcw) recorded during nocturnal clinical polysomnography can differentiate children with and without obstructive sleep apnoea (OSA) is not known. What is the main finding and its importance? Non-normalized sEMGcw was increased in children with OSA and an additional group of snoring children without OSA but subjectively increased respiratory effort compared with primary snorers. The sEMGcw has potential clinical utility in evaluation of children with sleep-disordered breathing as an objective, non-invasive, non-volitional marker of NRD. ABSTRACT: Our aim was to investigate whether neural respiratory drive measured by non-normalized surface EMG recorded from the chest wall overlying the diaphragm (sEMGcw) differentiates children with and without obstructive sleep apnoea (OSA). Polysomnography data of children aged 0-18 years were divided into the following three groups: (i) primary snorers (PS); (ii) snoring children without OSA but with increased work of breathing (incWOB; subjective physician report of increased respiratory effort during sleep); and (iii) children with OSA [obstructive apnoea-hypopnoea index (OAHI) >1 h-1 ]. Excerpts of sEMGcw obtained during tidal unobstructed breathing from light, deep and rapid eye movement sleep were exported for quantitative analysis. Overnight polysomnography data from 45 PS [median age 4.4 years (interquartile range 3.0-7.7 years), OAHI 0 h-1 (0.0-0.2 h-1 )], 19 children with incWOB [age 2.8 years (2.4-5.7 years), OAHI 0.1 h-1 (0.0-0.4 h-1 )] and 27 children with OSA [age 3.6 years (2.6-6.2 years), OAHI 3.7 h-1 (2.3-6.9 h-1 )] were analysed. The sEMGcw was higher in those with OSA [8.47 µV (5.98-13.07 µV); P < 0.0001] and incWOB [8.97 µV (5.94-13.43 µV); P < 0.001] compared with PS [4.633 µV (2.98-6.76 µV)]. There was no significant difference in the sEMGcw between children with incWOB and OSA (P = 0.78). Log sEMGcw remained greater in children with OSA and incWOB compared with PS after age, body mass index centiles, sleep stages and sleep positions were included in the mixed linear models (P < 0.0001). The correlation between sEMGcw and OAHI in children without OSA was small (rs  = 0.254, P = 0.04). The sEMGcw is increased in children with OSA and incWOB compared with PS.

Sleep Disturbance in Children With Moderate or Severe Traumatic Brain Injury Compared With Children With Orthopedic Injury.

OBJECTIVES: To characterize the sleep disturbance in children with moderate or severe traumatic brain injury (TBI), and to identify associated factors. SETTING: An urban tertiary pediatric healthcare facility. PARTICIPANTS: Children aged 5 to 15 years with a moderate TBI (n = 21), severe TBI (n = 23), or an orthopedic injury (OI; n =38) comparable in age, gender, and socioeconomic status. DESIGN: Cohort study. MEASURES: Primary: Sleep Disturbance Scale for Children (SDSC). Secondary: Injury-specific factors (TBI severity, age at injury, and time since injury), and other factors of interest (sleep hygiene; pain intensity; difficulties with internalizing, externalizing, or attention/hyperactivity; parental distress; and parental knowledge of TBI). RESULTS: On the SDSC, parents rated children with moderate TBI (but not severe TBI) as experiencing greater overall sleep disturbance, as well as excessive somnolence and sleep breathing disturbance, relative to OI controls. Children with severe TBI (but not moderate TBI) were rated as experiencing greater disturbance with initiating and maintaining sleep. The moderate and severe TBI groups did not differ on any of the sleep outcomes. Only 3 factors were associated with sleep disturbance in the combined TBI group: (1) lower TBI severity with greater excessive somnolence; (2) greater internalizing difficulties with greater overall sleep disturbance, and disturbance with initiating and maintaining sleep specifically; and (3) younger age at injury with greater overall sleep disturbance, and sleep breathing disturbance specifically. CONCLUSION: Children with moderate or severe TBI experience greater overall and/or specific forms of sleep disturbance. Different forms of sleep disturbance may be associated with different factors.

The Clinical Usefulness of Sleep Studies in Children.

Sleep disordered breathing is common in children and has the potential to have a significant impact on cognition, activity and social interaction. The overnight in-laboratory polysomnography (PSG) continues to be the gold standard instrument for the investigation of sleep-disordered breathing in children. It has the ability to rule in or rule out the need for intervention for common conditions such as obstructive sleep apnoea, assess the role of sleep quality in children and adolescents with hypersomnolence, provide physiologic data in children with hypoventilation as may be seen in neuromuscular disease and assist in the assessment of children with structural airway and lung abnormalities. Polysomnography is valuable and the only reliable method to differentiate habitual snoring from many levels of sleep apnoea syndrome [1]. The American Academy of Paediatrics recommends that, in order to diagnose and manage OSA syndrome, all children should be screened for snoring and complex cases should be referred to a specialist. PSG is the diagnostic gold standard and adenotonsillectomy is the first line of treatment [2]. There is no evidence to support nap studies or ambulatory sleep studies in children [3]. With adequate staffing, expertise, and a child and family-friendly environment, children of any age can undergo a sleep study.

Growing pains and periodic limb movements of sleep in children.

AIM: To investigate whether there was any association between growing pains (GP) and periodic limb movements of sleep (PLMS) in children referred for polysomnography (PSG), in light of the possible shared genetic determinants between GP and restless legs syndrome. METHODS: Records of all 903 children who underwent PSG at a paediatric hospital between January 2009 and May 2010 were retrospectively reviewed. Children aged 3-16 years, without neuromuscular or neurological/developmental disorders who were seen by a single sleep physician were included in the analysis. Data extracted included: current GP, PLMS index, mixed obstructive apnoea/hypopnoea index and patient demographics. GP was diagnosed in the pre-PSG consultation. RESULTS: GP was recorded in 43 of the eligible 230 children referred for PSG of whom 25.6% had a PLMS index ≥ 5/h, significantly higher than in the children without GP (10.2%) (odds ratio 3.04, χ(2) = 6.0, P = 0.014). The adjusted odds ratio for the association between GP and PLMS remained significant at 2.53 (95% CI 1.1-6.1, P < 0.05). A PLMS index ≥ 5/h was recorded in 30 of the 230 participants. GP and PLMS were also significantly multivariately associated with restlessness as the indication for PSG. CONCLUSIONS: Children with GP were three times more likely to have a PLMS index ≥ 5/h than children without GP on PSG. These results suggest that GP may be associated with PLMS, giving greater support for the hypothesis that GP might lie on the phenotypic spectrum of restless legs syndrome.

Delivery of average assured pressure support (AVAPS) through tracheostomy in paediatric patients.

Average volume-assured pressure support (AVAPS) mode has been available since 2009 and allows the ventilator to deliver a constant pre-set tidal volume by automatically adjusting the inspiratory pressures within a set range. Data in AVAPS mode use is limited in both paediatric populations, and in patients who are ventilated through a tracheostomy. This case series reports on the successful use of AVAPS mode in four paediatric patients with tracheostomy ventilation.

Infant and toddler sleep in Australia and New Zealand.

AIMS: To characterize sleep patterns and sleep problems in a large sample of young children (birth to 36 months) in Australia (AU) and New Zealand (NZ). METHODS: Parents and caregivers of 2154 infants and toddlers in AU and NZ completed an expanded version of the Brief Infant Sleep Questionnaire. RESULTS: Overall, young children in AU and NZ go to bed relatively early (19:35), awaken on average 1.08 times per night for an average of 23 min, have a low likelihood of bed-sharing with parents (7.2%) and obtain an average of 13.24 h total sleep. However, a significant percentage of parents perceive that their child has a sleep problem (30.69%). Sleep patterns in these children demonstrate clear developmental changes, including a decrease in daytime sleep and total sleep time, as well as consolidation of sleep during the night (decrease in night wakings and nocturnal wakefulness). Parents in AU and NZ are also highly likely to encourage independence and self-soothing, especially after the age of 3 months. CONCLUSIONS: These findings provide parents and professionals reference data for assessing sleep in young children, as well as common parenting practices related to sleep behaviours.

Neurocognitive outcomes of children with sleep disordered breathing: A systematic review with meta-analysis.

Children with sleep disordered breathing (SDB) are at an increased risk of neurocognitive impairments. This systematic review with meta-analysis aims to 1) establish whether SDB differentially impacts various neurocognitive domains (intelligence, attention/executive functions, memory, visual spatial skills, and language) and 2) examine the effects of several moderating factors. Database searches, conducted according to the PRISMA guidelines, identified 77 studies that met pre-determined criteria, 63 of which were included in the meta-analysis. Most studies were of moderate to high quality. Children with SDB had significant impairments in all cognitive domains, albeit of different magnitude. The largest impairments were found in intelligence (verbal and overall). With respect to severity of SDB, neurocognitive deficits were evident in children with primary snoring (PS) as well as in children with obstructive sleep apnea (OSA). Other moderators: higher body mass index, younger age at testing, using questionnaires rather than polysomnography, and employing a control group instead of normative data, related to poorer neurocognitive outcomes in select domains. Overall, our study provides robust evidence of multiple neurocognitive impairments in children with SDB, with no evidence of sparing in children with PS. The findings of our study provide impetus for research and interventions for children with SDB across all severities.

SIDS is associated with prenatal drug use: a meta-analysis and systematic review of 4 238 685 infants.

OBJECTIVE: To conduct a meta-analysis to determine the association between prenatal drug exposure and risk of sudden infant death syndrome (SIDS). DESIGN: Studies were searched using PubMed, Medline and Embase and restricted to English, with no publication date limit. Selected studies included published cohort, population or case studies comparing the incidence of SIDS among drug-exposed with drug-free controls. This study was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses and Meta-Analysis of Observational Studies in Epidemiology guidelines. Data were pooled using a random-effects model to evaluate risk ratios (RR). SETTING: High-income countries. PATIENTS: Children with a history of prenatal drug exposure. INTERVENTIONS: None. MAIN OUTCOME MEASURES: RR of SIDS between drug-exposed and control infants. RESULTS: Sixteen studies (36 730 infants with any prenatal drug exposure, 21 661 exposed to opioids, 21 571 exposed to cocaine, 5031 exposed to methadone compared with 4 201 955 with no exposure). Any prenatal drug exposure was associated with an increased crude risk of SIDS (RR 7.84, 95% CI 5.21 to 11.81). Prenatal opioid exposure had the highest associative crude risk of SIDS (RR 9.76, 95% CI 5.28 to 18.05), followed by methadone (RR 9.52, 95% CI 4.60 to 19.70) and cocaine (RR 4.40, 95% CI 2.52 to 7.67). Increased crude risk persisted after adjusting for socioeconomic factors (RR 4.24, 95% CI 1.39 to 12.88). The incidence of SIDS for this cohort decreased between 1972 and 2020 but remained significantly higher than controls. CONCLUSION: Exposure to any drug of dependency during pregnancy is associated with an increased risk of SIDS after controlling for socioeconomic factors. Further study to evaluate mechanisms and contribution of other confounders (eg, smoking) is warranted.

Pediatric Average Volume Assured Pressure Support.

Average volume assured pressure support (AVAPS) is a modality of non-invasive ventilation that enables the machine to deliver a pre-set tidal volume by adjusting the inspiratory pressure support within a set range. Data on its use in the pediatric population are limited to case reports and single centre case series. This article reviews paediatric data on use of AVAPS and highlights the need for validation to help develop specific guidelines on use of AVAPS in children.

Daytime predictors of nocturnal hypercapnic hypoventilation in children with neuromuscular disorders.

OBJECTIVES: To examine objective daytime predictors of nocturnal hypercapnic hypoventilation (NHH) and identify a forced vital capacity (FVC) z-score cut off that predicts NHH using the 2012 Global Lung Function Initiative (GLI) reference equations in pediatric neuromuscular patients. DESIGN: Single-centre retrospective medical record review. SETTING: Tertiary pediatric hospital in Australia. PATIENTS: Children (<18 years old) with a neuromuscular disorder (NMD) who had a diagnostic sleep study over a 5-year period. RESULTS: Fifty children were included, median age 11.9 years (interquartile range [IQR]: 4.5-14.3). The majority of children had a diagnosis of Duchenne Muscular Dystrophy (32%). NHH was diagnosed in 18 children (36%). Multivariate logistic regression analysis performed for the entire cohort confirmed a statistically significant association between NHH and scoliosis (odds ratio [OR]: 3.3, p = 0.03), but not age (OR: 1.01, p = 0.26), body mass index z-score (OR: 0.86, p = 0.26) or use of a wheelchair for mobility (OR: 1.25, p = 0.72). For the subset of 29 children who had spirometry testing (median age 12.9 years [IQR: 10.2-14.3]), FVC z-score was the only statistically significant predictor of NHH (OR: 0.45, p = 0.02). NHH was predicted by an FVC z-score <-3.24 (sensitivity 78%, specificity 73%), or FVC <60% predicted (sensitivity 78%, specificity 73%). There was a strong positive correlation between FVC and forced expiratory volume in 1 s z-scores (rp = 0.98, p = 0.00) and FVC and peak expiratory flow  z-scores (rp = 0.72, p = 0.00). CONCLUSION: Children with a NMD and scoliosis or a lower FVC z-score have increased odds of having NHH.

Three generations of a family diagnosed with congenital central hypoventilation syndrome: A case series.

Congenital central hypoventilation syndrome (CCHS) is an autosomal dominant disorder characterized by alveolar hypoventilation and autonomic dysregulation secondary to mutations of the PHOX2B genes. We present five cases from three generations within the same family with varying degrees of phenotypic expression of the PHOX2B gene mutation. The cases were diagnosed following identification of CCHS in index case at birth. This case series underscores the importance of screening first-degree relatives of individuals with confirmed CCHS and alerts the clinicians to maintain a high degree of suspicion in asymptomatic family members given the high degree of phenotypic variability of CCHS.