Modelling the cost-effectiveness of a newborn hearing screening programme; usability and pitfalls.

OBJECTIVE: The EUSCREEN project concerns the study of European vision and hearing screening programmes. Part of the project was the development of a cost-effectiveness model to analyse such programmes. We describe the development and usability of an online tool to enable stakeholders to design, analyse or modify a newborn hearing screening (NHS) programme. DESIGN: Data from literature, from existing NHS programmes, and observations by users were used to develop and refine the tool. Required inputs include prevalence of the hearing impairment, test sequence and its timing, attendance, sensitivity, and specificity of each screening step. Outputs include the number of cases detected and the costs of screening and diagnostics. STUDY SAMPLE: Eleven NHS programmes with reliable data. RESULTS: Three analyses are presented, exploring the effect of low attendance, number of screening steps, testing in the maternity ward, or screening at a later age, on the benefits and costs of the programme. Knowledge of the epidemiology of a staged screening programme is crucial when using the tool. CONCLUSIONS: This study presents a tool intended to aid stakeholders to design a new or analyse an existing hearing screening programme in terms of benefits and costs.

Implementation of Newborn Hearing Screening in Albania.

Newborn hearing screening (NHS) was implemented in Albania in four maternity hospitals in 2018 and 2019. Implementation outcome, screening outcome, and screening quality measures were evaluated. Infants were first screened by midwives and nurses before discharge from the maternity hospital and returned for follow-up screening. Acceptability, appropriateness, feasibility, adoption, fidelity, coverage, attendance, and stepwise and final-referral rates were assessed by onsite observations, interviews, questionnaires, and a screening database. A post hoc analysis was performed to identify reasons for loss to follow up (LTFU) in a multivariate logistic regression. In total, 22,818 infants were born, of which 96.6% were screened. For the second screening step, 33.6% of infants were LTFU, 40.4% for the third, and 35.8% for diagnostic assessment. Twenty-two (0.1%) were diagnosed with hearing loss of ≥40 dB, six unilateral. NHS was appropriate and feasible: most infants are born in maternity hospitals, hence nurses and midwives could perform screening, and screening rooms and logistic support were supplied. Adoption among screeners was good. Referral rates decreased steadily, reflecting increasing skill. Occasionally, screening was repeated during a screening step, contrary to the protocol. NHS in Albania was implemented successfully, though LTFU was high. It is important to have effective data tracking and supervision throughout the screening.

Assessment of hearing screening programmes across 47 countries or regions III: provision of childhood hearing screening after the newborn period.

OBJECTIVE: To inventory provision and features of childhood hearing screening after the newborn period (CHS), primarily in Europe. DESIGN: From each participating country or region, experts provided information through an extensive questionnaire: implementation year, age at screening, test method, pass criteria, screening location, screener profession, and quality indicators: coverage, referral, follow-up and detection rates, supplemented by literature sources. STUDY SAMPLE: Forty-two European countries or regions, plus Russia, Malawi, Rwanda, India, and China. RESULTS: CHS was performed universally with pure-tone audiometry screening (PTS) in 17 countries or regions, whereas non-universal CHS was performed in eight with PTS or whisper tests. All participating countries with universal PTS had newborn hearing screening. Coverage rate was provided from three countries, detection rate from one, and referral and follow-up rate from two. In four countries, universal PTS was performed at two ages. Earliest universal PTS was performed in a (pre)school setting by nurses (n = 9, median age: 5 years, range: 3-7), in a healthcare setting by doctors and nurses (n = 7, median age: 4.5 years, range: 4-7), or in both (n = 1). CONCLUSIONS: Within universal CHS, PTS was mostly performed at 4-6 years by nurses. Insufficient collection of data and monitoring with quality indicators impedes evaluation of screening.

Assessment of hearing screening programmes across 47 countries or regions I: provision of newborn hearing screening.

OBJECTIVES: Newborn hearing screening (NHS) varies regarding number and type of tests, location, age, professionals and funding. We compared the provision of existing screening programmes. DESIGN: A questionnaire containing nine domains: demography, administration, existing screening, coverage, tests, diagnosis, treatment, cost and adverse effects, was presented to hearing screening experts. Responses were verified. Clusters were identified based on number of screening steps and use of OAE or aABR, either for all infants or for well and high-risk infants (dual-protocol). STUDY SAMPLE: Fifty-two experts completed the questionnaire sufficiently: 40 European countries, Russia, Malawi, Rwanda, India and China. RESULTS: It took considerable effort to find experts for all countries with sufficient time and knowledge. Data essential for evaluation are often not collected. Infants are first screened in maternity wards in most countries. Human development index and health expenditure were high among countries with dual protocols, three screening steps, including aABR, and low among countries without NHS and countries using OAE for all infants. Nationwide implementation of NHS took 6 years, on average. CONCLUSION: The extent and complexity of NHS programmes are primarily related to health expenditure and HDI. Data collection should be improved to facilitate comparison of NHS programmes across borders.

Assessment of hearing screening programmes across 47 countries or regions II: coverage, referral, follow-up and detection rates from newborn hearing screening.

OBJECTIVES: To assess the performance of newborn hearing screening (NHS) programmes, through selected quality measures and their relationship to protocol design. DESIGN: NHS coverage, referral, follow-up and detection rates were aggregated. Referral rates were compared to age at screening step 1, number of steps, and test method: OAE or aABR. STUDY SAMPLE: A questionnaire on existing hearing screening was completed by experts from countries in Europe, plus Russia, Malawi, Rwanda, India and China. RESULTS: Out of 47 countries or regions, NHS coverage rates were reported from 26, referral rates from 23, follow up from 12 and detection rates from 13. Median coverage rate for step 1 was 96%. Referral rate from step 1 was 6-22% where screening may be performed <24 h from birth, 2-15% for >24 h, and 4% for >72 h. Referral rates to diagnostic assessment averaged 2.1% after one to two steps using OAE only, 1.7% after two steps including aABR, and 0.8% after three to four steps including aABR. Median detection rate for bilateral permanent hearing impairment ≥40dB was 1 per 1000 infants. CONCLUSION: Referral rates were related to age, test method and number of screening steps. Quality measures were not available for many NHS programmes.

Cost-Effectiveness of Neonatal Hearing Screening Programs: A Micro-Simulation Modeling Analysis.

OBJECTIVES: Early detection of neonatal hearing impairment moderates the negative effects on speech and language development. Universal neonatal hearing screening protocols vary in tests used, timing of testing and the number of stages of screening. This study estimated the cost-effectiveness of various protocols in the preparation of implementation of neonatal hearing screening in Albania. DESIGN: A micro-simulation model was developed using input on demography, natural history of neonatal hearing impairment, screening characteristics and treatment. Parameter values were derived from a review of the literature and expert opinion. We simulated multiple protocols using otoacoustic emissions (OAE) and automated auditory brainstem response (aABR), varying the test type, timing and number of stages. Cost-effectiveness was analyzed over a life-time horizon. RESULTS: The two best protocols for well infants were OAE followed by aABR (i.e., two-stage OAE-aABR) testing in the maternity ward and single-aABR testing. Incremental cost-effectiveness ratios were €4181 and €78,077 per quality-adjusted life-year gained, respectively. Single-aABR screening led to more cases being detected compared to a two-stage screening program. However, it also resulted in higher referral rates, which increased the total costs of diagnostics. Multi-staged screening decreased referral rates but may increase the number of missed cases due to false-negative test results and nonattendance. CONCLUSIONS: Only the 2-stage OAE-aABR (maternity ward) protocol was below the willingness-to-pay threshold of €10,413 for Albania, as suggested by the World Health Organization, and was found to be cost-effective. This study is among the few to assess neonatal hearing screening programs over a life-time horizon and the first to predict the cost-effectiveness of multiple screening scenarios.

Implementation of a neonatal hearing screening programme in three provinces in Albania.

OBJECTIVES: The EUSCREEN study compares the cost-effectiveness of paediatric hearing screening programmes and aims to develop a cost-effectiveness model for this purpose. Alongside and informed by the development of the model, neonatal hearing screening (NHS) is implemented in Albania. We report on the first year. METHODS: An implementation plan was made addressing objectives, target population, screening protocol, screener training, screening devices, care pathways and follow up. NHS started January 1st, 2018 in four maternity hospitals: two in Tirana, one in Pogradec and one in Kukës, representing both urban and rural areas. OAE-OAE-aABR was used to screen well infants in maternity hospitals, whereas aABR-aABR was used in neonatal intensive care units and in mountainous Kukës for all infants. Screeners' uptake and attitudes towards screening and quality of screening were assessed by distributing questionnaires and visiting the maternity hospitals. The result of screening, diagnostics, follow up and entry into early intervention were registered in a database and monitored. RESULTS: Screeners were keen to improve their skills in screening and considered NHS valuable for Albanian health care. The number of "fail" outcomes after the first screen was high initially but decreased to less than 10% after eight months. In 2018, 11,507 infants were born in the four participating maternity hospitals, 10,925 (94.9%) of whom were screened in the first step. For 486 infants the result of screening was not registered. For the first screen, ten parents declined, eight infants died and one infant was discharged before screening could be performed. In 1115 (10.2%) infants the test either could not be performed or the threshold was not reached; 361 (32,4%) of these did not attend the second screen. For the third screen 31 (34.4%) out of 90 did not attend. Reasons given were: parents declined (124), lived too far from screening location (95), their infant died (11), had other health issues (7), or was screened in private clinic (17), no reason given (138). CONCLUSIONS: Implementation of NHS in Albania is feasible despite continuing challenges. Acceptance was high for the first screen. However, 32.4% of 1115 infants did not attend the second screen, after a "fail" outcome for the first test.

Prevalence of permanent neonatal hearing impairment: systematic review and Bayesian meta-analysis.

Objective: To investigate the variance in reported prevalence rates of permanent neonatal hearing impairment (HI) worldwide.Design: A systematic review and meta-analysis was performed on reported prevalence rates of sensorineural and permanent conductive or mixed HI worse than 40 dB in neonates, detected as a result of a screening programme or audiometric study.Study sample: For meta-analysis, 35 articles were selected, 25 from high-income countries and 10 from middle-income countries according to the world bank classification system.Results: The prevalence rate of permanent uni- and bilateral HI worse than 40 dB in neonates varied from 1 to 6 per 1000, the overall prevalence was 2.21 per 1000 [1.71, 2.8]. In NICU populations the prevalence rate was higher with a larger fraction of bilateral cases. Although not significant, prevalence rates were slightly higher in Asia compared to Europe and the number of infants lost to follow-up appeared higher in countries with lower gross national income.Conclusion: Substantial variations exist in prevalence rates of neonatal permanent HI across countries and regions. There is a strong need for more data from low-income countries to identify demographic factors that account for this variability in reported prevalence rates. Reporting these data in a uniform way is advocated.

Reliability and validity of the Dutch pediatric Voice Handicap Index.

INTRODUCTION: The pediatric voice handicap index (pVHI) has been developed to provide a better insight into the parents' perception of their child's voice related quality of life. The purpose of the present study was to validate the Dutch pVHI by evaluating its internal consistency and reliability. Furthermore, we determined the optimal cut-off point for a normal pVHI score. METHODS: All items of the English pVHI were translated into Dutch. Parents of children in our dysphonic and control group were asked to fill out the questionnaire. For the test re-test analysis we used a different study group who filled out the pVHI twice as part of a large follow up study. Internal consistency was analyzed through Cronbach's α coefficient. The test-retest reliability was assessed by determining Pearson's correlation coefficient. Mann-Whitney test was used to compare the scores of the questionnaire of the control group with the dysphonic group. By calculating receiver operating characteristic (ROC) curves, sensitivity and specificity we were able to set a cut-off point. RESULTS: We obtained data from 122 asymptomatic children and from 79 dysphonic children. The scores of the questionnaire significantly differed between both groups. The internal consistency showed an overall Cronbach α coefficient of 0.96 and an excellent test-retest reliability of the total pVHI questionnaire with a Pearson's correlation coefficient of 0.90. A cut-off point for the total pVHI questionnaire was set at 7 points with a specificity of 85% and sensitivity of 100%. A cut-off point for the VAS score was set at 13 with a specificity of 93% and sensitivity of 97%. CONCLUSIONS: The Dutch pVHI is a valid and reliable tool for the assessment of children with voice problems. By setting a cut-off point for the score of the total pVHI questionnaire of 7 points and the VAS score of 13, the pVHI might be used as a screening tool to assess dysphonic complaints and the pVHI might be a useful and complementary tool to identify children with dysphonia.

Voice outcome and voice-related quality of life after surgery for pediatric laryngotracheal stenosis.

OBJECTIVES: To evaluate the long-term outcome of voice quality and voice-related quality of life after open airway surgery for pediatric laryngotracheal stenosis. STUDY DESIGN: Prospective cohort study. METHODS: Children under the age of 18 years at time of follow-up and with a history of open airway surgery for acquired laryngotracheal stenosis were included in this analysis. To assess voice-related quality of life, the pediatric voice handicap (pVHI) index was completed by the patients' parents. The dysphonia severity index (DSI) was used as an objective measurement for voice quality. RESULTS: Fifty-five parents completed the pVHI, and 38 children completed the DSI. This showed high pVHI values and low total DSI scores, indicating significant voice disturbance. After multivariate analysis, the presence of comorbidities and glottic involvement of the stenosis are associated with poor long-term voice-related quality of life. CONCLUSION: Significant voice disturbance is common after surgery for pediatric laryngotracheal stenosis. Glottic involvement of the stenosis and comorbidities is associated with poor voice-related quality of life. Evaluation of pre- and postoperative voice quality and voice-related quality of life is advised for children treated for laryngotracheal stenosis. LEVEL OF EVIDENCE: 2B. Laryngoscope, 127:1707-1711, 2017.

Reliability of the reflux finding score for infants in flexible versus rigid laryngoscopy.

OBJECTIVES: The Reflux Finding Score for Infants (RFS-I) was developed to assess signs of laryngopharyngeal reflux (LPR) in infants. With flexible laryngoscopy, moderate inter- and highly variable intraobserver reliability was found. We hypothesized that the use of rigid laryngoscopy would increase reliability and therefore evaluated the reliability of the RFS-I for flexible versus rigid laryngoscopy in infants. METHODS: We established a set of videos of consecutively performed flexible and rigid laryngoscopies in infants. The RFS-I was scored twice by 4 otorhinolaryngologists, 2 otorhinolaryngology fellows, and 2 inexperienced observers. Cohen's and Fleiss' kappas (k) were calculated for categorical data and the intraclass correlation coefficient (ICC) was calculated for ordinal data. RESULTS: The study set consisted of laryngoscopic videos of 30 infants (median age 7.5 (0-19.8) months). Overall interobserver reliability of the RFS-I was moderate for both flexible (ICC = 0.60, 95% CI 0.44-0.76) and rigid (ICC = 0.42, 95% CI 0.26-0.62) laryngoscopy. There were no significant differences in reliability of overall RFS-I scores and individual RFS-I items for flexible versus rigid laryngoscopy. Intraobserver reliability of the total RFS-I score ranged from fair to excellent for both flexible (ICC = 0.33-0.93) and rigid (ICC = 0.39-0.86) laryngoscopies. Comparing RFS-I results for flexible versus rigid laryngoscopy per observer, reliability ranged from no to substantial (k = -0.16-0.63, mean k = 0.22), with an observed agreement of 0.08-0.35. CONCLUSION: Reliability of the RFS-I was moderate and did not differ between flexible and rigid laryngoscopies. The RFS-I is not suitable to detect signs or to guide treatment of LPR in infants, neither with flexible nor with rigid laryngoscopy.

Long-term functional airway assessment after open airway surgery for laryngotracheal stenosis.

OBJECTIVES/HYPOTHESIS: The purpose of this study was to evaluate our patient-reported and objective long-term outcomes of patients treated for laryngotracheal stenosis. STUDY DESIGN: Prospective cohort study. METHODS: Sixty-five patients were evaluated after a median follow-up of 7 years after surgery. Follow-up measurements consisted of pulmonary function testing, Bruce treadmill test, and Child Health Questionnaires (CHQ). RESULTS: Pulmonary function tests were available in 43 patients, and 30/43 had abnormal forced expiratory volume in 1 second/forced inspiratory volume in 1 second (FIV1), 25/43 had abnormal FIV1/maximum vital capacity, and 24/43 had abnormal peak expiratory flow. One-third of patients had reduced exercise tolerance. CHQ revealed significant positive correlations with pulmonary function results and exercise tolerance. Multivariate analysis showed that glottic involvement of the stenosis and the presence of comorbidities at time of surgery are the only factors for poor long-term functional outcome. CONCLUSIONS: The majority of patients show deficits in pulmonary function and exercise tolerance related to lower scores of quality of life. Glottic involvement of the stenosis and the presence of comorbidities are the only significant factors for poor functional outcome. Long-term multidisciplinary follow up is mandatory after surgery for laryngotracheal stenosis. LEVEL OF EVIDENCE: 2B.

Robin sequence: A European survey on current practice patterns.

To provide an overview of current practice patterns with regard to Robin sequence (RS) patients in Europe, a survey was conducted among European clinicians. This online survey consisted of different sections assessing characteristics of the respondent and clinic, definition, diagnosis, treatment, and follow-up. In total, surveys from 101 different European clinics were included in the analysis, and 56 different RS definitions were returned. The majority (72%) of the respondents used a sleep study system to determine the severity of the airway obstruction. A total of 63% used flexible endoscopy and 16% used rigid endoscopy in the diagnostic process. Treatment of the airway obstruction differed considerably between the different countries. Prone positioning for mild airway obstruction was the treatment modality used most often (63%). When prone positioning was not successful, a nasopharyngeal airway was used (62%). Surgical therapies varied considerably among countries. For severe obstruction, mandibular distraction was performed most frequently. Three-quarters of the respondents noted the presence of catch-up growth in their patient population. This first European survey study on definition and management of RS shows that there are considerable differences within Europe. Therefore, we would encourage the establishment of national (and international) guidelines to optimize RS patient care.

JS-X syndrome: A multiple congenital malformation with vocal cord paralysis, ear deformity, hearing loss, shoulder musculature underdevelopment, and X-linked recessive inheritance.

We report on a family with a not earlier described multiple congenital malformation. Several male family members suffer from laryngeal obstruction caused by bilateral vocal cord paralysis, outer and middle ear deformity with conductive and sensorineural hearing loss, facial dysmorphisms, and underdeveloped shoulder musculature. The affected female members only have middle ear deformity and hearing loss. The pedigree is suggestive of an X-linked recessive inheritance pattern. SNP-array revealed a deletion and duplication on Xq28 in the affected family members. A possible aetiology is a neurocristopathy with most symptoms expressed in structures derived from branchial arches.

Inventory of current EU paediatric vision and hearing screening programmes.

OBJECTIVE: To examine the diversity in paediatric vision and hearing screening programmes in Europe. METHODS: Themes for comparison of screening programmes derived from literature were used to compile three questionnaires on vision, hearing, and public health screening. Tests used, professions involved, age, and frequency of testing seem to influence sensitivity, specificity, and costs most. Questionnaires were sent to ophthalmologists, orthoptists, otolaryngologists, and audiologists involved in paediatric screening in all EU full-member, candidate, and associate states. Answers were cross-checked. RESULTS: Thirty-nine countries participated; 35 have a vision screening programme, 33 a nation-wide neonatal hearing screening programme. Visual acuity (VA) is measured in 35 countries, in 71% of these more than once. First measurement of VA varies from three to seven years of age, but is usually before age five. At age three and four, picture charts, including Lea Hyvarinen, are used most; in children over four, Tumbling-E and Snellen. As first hearing screening test, otoacoustic emission is used most in healthy neonates, and auditory brainstem response in premature newborns. The majority of hearing testing programmes are staged; children are referred after 1-4 abnormal tests. Vision screening is performed mostly by paediatricians, ophthalmologists, or nurses. Funding is mostly by health insurance or state. Coverage was reported as >95% in half of countries, but reporting was often not first-hand. CONCLUSION: Largest differences were found in VA charts used (12), professions involved in vision screening (10), number of hearing screening tests before referral (1-4), and funding sources (8).

Prevalence and characteristics of tracheal cobblestoning in children.

BACKGROUND: Tracheal follicular pattern or so-called tracheal cobblestoning is a poorly described entity in the literature and is depicted as a nodular or lumpy appearance of the tracheal wall mucosa suggesting tracheal irritation from factors like gastro-esophageal reflux (GERD) or pulmonary infection. The aim of the present study was to investigate the prevalence and characteristics of tracheal cobblestones in a large pediatric population. METHODS: A large database of rigid tracheoscopies recorded in children (0-6 years of age) undergoing general anesthesia with planned tracheal intubation for elective surgical procedures was retrospectively analyzed. Tracheoscopy records were reviewed by five pediatric airway experts (authors 3-7). Data were compared using the Mann-Whitney test, chi-square or Fisher exact test as appropriate (P < 0.05). RESULTS: A total of 971 rigid tracheoscopy records were analyzed. The median age of the patients was 3.3 years (range 0.4-6.0 yrs). Cobblestones were present in 377 out of 971 patients (38.8%) with a male to female prevalence of 254 (40.6%)/123 (35.5%). None of the children under four months of age showed the presence of cobblestones. The prevalence of cobblestones was significantly less in patients under 3 years of age compared to over 3 years (P < 0.01). There was no association between prevalence of cobblestones and GERD, current or recent respiratory infection or concomitant enlarged tonsils. CONCLUSION: The prevalence of tracheal cobblestones in otherwise healthy children is high and is not associated with GERD or respiratory infection. The gender and age related differences are novel interesting findings that require further investigations.

Development of the reflux finding score for infants and its observer agreement.

OBJECTIVE: It is hypothesized that laryngeal edema is caused by laryngopharyngeal reflux (LPR) (ie, gastroesophageal reflux extending into the larynx and pharynx). The validated reflux finding score (RFS) assesses LPR disease in adults. We, therefore, aimed to develop an adapted RFS for infants (RFS-I) and assess its observer agreement. STUDY DESIGN: Visibility of laryngeal anatomic landmarks was assessed by determining observer agreement. The RFS-I was developed based on the RFS, the found observer agreement, and expert opinion. An educational tutorial was developed which was presented to 3 pediatric otorhinolaryngologists, 2 otorhinolaryngologists, and 2 gastroenterology fellows. They then scored videos of flexible laryngoscopy procedures of infants who were either diagnosed with or specifically without laryngeal edema. RESULTS: In total, 52 infants were included with a median age of 19.5 (0-70) weeks, with 12 and 40 infants, respectively, for the assessment of the laryngeal anatomic landmarks and the assessment of the RFS-I. Overall interobserver agreement of the RFS-I was moderate (intraclass correlation coefficient = 0.45). Intraobserver agreement ranged from moderate to excellent agreement (intraclass correlation coefficient = 0.50-0.87). CONCLUSION: A standardized scoring instrument was developed for the diagnosis of LPR disease using flexible laryngoscopy. Using this tool, only moderate interobserver agreement was reached with a highly variable intraobserver agreement. Because a valid scoring system for flexible laryngoscopy is lacking up until now, the RFS-I and flexible laryngoscopy should not be used solely to clinically assess LPR related findings of the larynx, nor to guide treatment.

The prevalence of tracheal bronchus in pediatric patients undergoing rigid bronchoscopy.

BACKGROUND: Tracheal bronchus (TB) is defined as an abnormal bronchus that originates directly from the lateral wall of the trachea above the carina and goes towards the upper lobe territory of the lung. We analyzed rigid endoscopies of the trachea in children to determine the incidence and characteristics of TB. METHODS: In total, 1021 rigid endoscopies of the trachea recorded from children aged 0 to 6 years were analyzed. Endoscopic examination was performed from supraglottic region to carina using a 0-degree Hopkins rod-lens telescope. Patients with a TB were identified and the site of origin of the TB and its level above the carina was noted. Data of the identified patients was reviewed for the presence of preoperative airway findings such as stridor, upper lobe pneumonia and wheezing or atelectasis, other congenital anomalies, and intraoperative complications. RESULTS: TB was detected in 11 (1.06%) of 1021 upper airway endoscopic examinations. All originated from the right lateral wall of the trachea. Six children had retained secretions in the TB, and 3 children had perioperative airway problems unrelated to the TB. One child showed right main stem bronchus narrowing as seen at the true carina, in the presence of a TB. All the children with TB exhibited at least 1 additional congenital anomaly at birth besides TB. CONCLUSIONS: TB is a relatively common congenital endoscopic lower airway anomaly in childhood, which is itself rarely symptomatic, but almost always coexists with other congenital anomalies.

Unravelling Robin sequence: considerations of diagnosis and treatment.

OBJECTIVES/HYPOTHESIS: The airway management of children with Robin sequence is controversial. This study provides an overview of a single-center experience with the diagnosis and treatment of 59 children with Robin sequence. STUDY DESIGN: Retrospective cohort study. METHODS: We conducted a retrospective cohort study of 59 children (<1 year old) with Robin sequence managed between 2000 and 2010. Robin sequence was defined as the presence of mandibular hypoplasia and clinical signs of airway obstruction. Data were collected on demographic characteristics, the presence of a syndrome, the perinatal period, and the management of airway and nutritional problems. RESULTS: Eighteen children (31%) needed respiratory support because of severe respiratory distress, and a sleep study found obstructive apneas in another eight children who had been managed by prone positioning and/or monitoring. In the isolated group significantly fewer children needed respiratory support compared to the nonisolated group. After the age of 1 year, 10% of the Robin sequence cohort was still in need of treatment for obstructive symptoms. Almost half (47%) needed temporary nutritional support. CONCLUSIONS: The prevalence of respiratory distress in children with Robin sequence is high. In most children, treatment with prone positioning was sufficient to relieve the airway obstruction. Successful treatment with prone positioning was significantly more often seen in children with an isolated Robin sequence. About one-third of all Robin sequence children needed respiratory support in the neonatal and/or infant period. However, in childhood, only 10% of the total Robin sequence cohort was still dependent on respiratory support.

How does obstructive sleep apnoea evolve in syndromic craniosynostosis? A prospective cohort study.

OBJECTIVE: To describe the course of obstructive sleep apnoea syndrome (OSAS) in children with syndromic craniosynostosis. DESIGN: Prospective cohort study. SETTING: Dutch Craniofacial Centre from January 2007 to January 2012. PATIENTS: A total of 97 children with syndromic craniosynostosis underwent level III sleep study. Patients generally undergo cranial vault remodelling during their first year of life, but OSAS treatment only on indication. MAIN OUTCOME MEASURES: Obstructive apnoea-hypopnoea index, the central apnoea index and haemoglobin oxygenation-desaturation index derived from consecutive sleep studies. RESULTS: The overall prevalence of OSAS in syndromic craniosynostosis was 68% as defined by level III sleep study. Twenty-three patients were treated for OSAS. Longitudinal profiles were computed for 80 untreated patients using 241 sleep studies. A mixed effects model showed higher values for the patients with midface hypoplasia as compared to those without midface hypoplasia (Omnibus likelihood ratio test=7.9). In paired measurements, the obstructive apnoea-hypopnoea index (Z=-3.4) significantly decreased over time, especially in the first years of life (Z=-3.3), but not in patients with midface hypoplasia (Z=-1.5). No patient developed severe OSAS during follow-up if it was not yet diagnosed during the first sleep study. CONCLUSIONS: OSAS is highly prevalent in syndromic craniosynostosis. There is some natural improvement, mainly during the first 3 years of life and least in children with Apert or Crouzon/Pfeiffer syndrome. In the absence of other co-morbid risk factors, it is highly unlikely that if severe OSAS is not present early in life it will develop during childhood. Ongoing clinical surveillance is of great importance and continuous monitoring for the development of other co-morbid risk factors for OSAS should be warranted.