Sleep-disordered breathing in children with Down syndrome: Usefulness of home polysomnography

ObjectiveTo investigate the technical feasibility of unattended home polysomnography (HPSG) in children with Down syndrome.MethodsData from children with Down syndrome under 10 years of age referred to a diagnostic sleep study was analyzed. A full sleep-lab based polysomnography (PSG) or a HPSG with a portable device was performed. Uninterpretable HPSGs were defined as: recordings with (i) loss of ≥2 of the following channels: nasal flow, or thoracoabdominal sensors, or (ii) HPSG with less than 4 h of artifact-free recording time or (iii) less than 4 h SpO₂ (peripheral capillary oxygen saturation) signal.ResultsA total of 44 children (68% males) were included in the study, with a mean age of 3.6 (0.1–10) years. PSG was performed in 8 cases and HPSG in 36 cases. Six HPSG recordings were classified as uninterpretable and had to be repeated. Age, gender and BMI were no significant predictors of uninterpretability of the HPSG. Obstructive sleep apnea (OSA) was present in 61% (n = 27) of all subjects, and classified as mild, moderate, and severe in 43% (n = 19), 11% (n = 5), and 7% (n = 3) of cases, respectively. Interpretable and technically acceptable HPSGs were obtained in 30 subjects (83%). Age, gender and BMI were no significant predictors for interpretability of the HPSG.DiscussionThis study demonstrates that a portable polysomnographic home device may be helpful for diagnosing OSA in children with Down syndrome. Considering the potential consequences of untreated OSA, this screening test may be helpful for early diagnosis of OSA in children with Down syndrome.     

Validation of the Greek OSD-6 quality of life questionnaire in children undergoing polysomnography

Objective

OSD-6 is a disease specific questionnaire for pediatric obstructive sleep apnea (OSA). The aims of this study were to validate OSD-6 in Greek language and correlate OSD-6 with polysomnography results.

Study design

Prospective study.

Setting

Tertiary referral center.

Subjects and methods

OSD-6 questionnaire was translated to Greek and back to English. A prospective study was conducted on children undergoing overnight polysomnography due to snoring and disrupted sleep. Test–retest evaluation was carried out. Internal consistency and test–retest reliability were evaluated. Validity was assessed by exploring correlations between OSD-6 scores and apnea–hypopnea index (AHI), and by comparing total scores of OSA and non-OSA groups. Responsiveness was assessed by comparing preoperative to postoperative total scores in OSA children who underwent adenotonsillectomy.

Results

Test–retest evaluation of 91 subjects showed good internal consistency (Cronbach’s alpha 0.860 for test and 0.873 for retest) and reliability (Pearson’s correlation coefficients between test and retest scores: 0.751–0.546; p < 0.01). Total and domains’ OSD-6 scores and AHI were significantly correlated (Spearman’s correlation coefficients: 0.277–0.630; p < 0.01), while children with OSA had higher total OSD-6 score than those without OSA (median (interquartile range): 16 (11) vs. 10 (7), respectively; p < 0.01), indicating good validity. Postoperative OSD-6 scores were significantly lower than preoperative (2.84 ± 3.21 vs. 15.42 ± 6.48, respectively; p < 0.001), suggesting good responsiveness.

Conclusion

The Greek version of the OSD-6 questionnaire proved to be a valid instrument with satisfactory internal consistency, reliability, validity and responsiveness. Furthermore, in our study OSD-6 was significantly correlated to polysomnography results.     

Metabolic alterations in children with obstructive sleep apnea

Importance

The incidence of obesity is rising in the United States and has been linked to Obstructive Sleep Apnea (OSA) even in young children. Understanding the role that obesity and OSA play in alterations in metabolic variables that can lead to serious health issues is essential to the care and counseling of affected children.

Objectives

To evaluate the association of alterations in metabolic variables, including insulin resistance, to OSA in young, obese children.

Design

Retrospective, case-control series.

Setting

Tertiary care children's hospital.

Participants

Obese children aged 2-12 years who had undergone overnight polysomography and routine laboratory testing for lipid levels, fasting glucose, and insulin from January 1, 2006 to December 31, 2012 were identified from a TransMed Bio-Integration Suite and Epic's clarity database search.

Results

A total of 76 patients were included for analysis. Forty-three (56.6%) were male, and the mean age was 8.3 ± 2.5 years (range, 2.4–11.9 years). The mean body mass index (BMI) z score was 2.8 ± 0.75 (range, 1.7–6.3), and all patients were obese (BMI z score > 95th percentile). Twenty two patients (28.9%) had an apnea–hypopnea index (AHI) <1/h (no OSA), 27 (35.5%) an AHI≥1 < 5/h, 12 (15.8%) had an AHI ≥5 < 9.99/h, and 15 (19.7%) had an AHI≥10/h. There was no significant difference in total cholesterol, triglycerides, high and low density lipoprotein levels, systolic and diastolic blood pressure in those patients with or without OSA. Fasting insulin, blood glucose, and homeostasis model assessment (HOMA) were significantly higher in patients with OSA compared to those with no OSA (p < 0.01). AHI correlated to alterations in insulin as well as glucose homeostasis on multivariate analysis. Results from logistic regression analysis showed that fasting insulin (p < 0.01), and HOMA (p < 0.01) predicted severe OSA independent of age, gender, and BMI z score in these patients.

Conclusion

Metabolic alterations in glucose and insulin levels, known to be associated with obesity and increased risk for cardiovascular disease, appear to relate to the severity of OSA in young children.     

Spontaneous nystagmus in horizontal canal benign paroxysmal positional vertigo

Objective

Benign paroxysmal positional vertigo of horizontal semicircular canal (HSC-BPPV) is characterized by either geotropic or apogeotropic nystagmus induced by head roll test. Some patients also present with spontaneous nystagmus. The aim of this study is to examine the clinical manifestation of spontaneous nystagmus in HSC-BPPV and evaluate the effect on the treatment outcome.

Patients and methods

Electronystagmography and video eye movement recordings of 125 patients diagnosed as HSC-BPPV were reviewed retrospectively. Presence of spontaneous nystagmus was analyzed and treatment outcome after repositioning therapy was compared.

Results

Overall, spontaneous nystagmus was observed in 19 patients (15.2%) with HSC-BPPV at initial presentation. In canalolithiasis group (n = 64), the treatment outcome did not differ between patients with or without spontaneous nystagmus. However, in cupulolithiasis group (n = 61), patients presenting with spontaneous nystagmus (n = 10) required more repositioning therapy sessions.

Conclusion

The presence of spontaneous nystagmus at initial presentation may implicate poorer treatment outcome in cupulolithiasis HSC-BPPV patients.     

Comparative analysis of fracture characteristics of the developing mandible: The Mayo Clinic experience

Objective

To review and compare the epidemiology and treatment of mandibular fractures in subgroups of a pediatric population.

Methods

We conducted a retrospective review of pediatric patients (age, ≤18 years) with mandibular fractures treated at our institution from January 1996 through November 2011.

Results

We identified 122 patients (93 [76%] male) with 216 mandibular fractures. The prevalent mechanisms of injury were motor vehicle accidents (n = 52 [43%]), sports injuries (n = 24 [20%]), and assault (n = 13 [11%]). The most common fracture sites were subcondylar, parasymphyseal, angle, and body. Two patients (2%) were treated conservatively by observation only, 67 (55%) underwent maxillomandibular fixation alone, 41 (34%) underwent maxillomandibular fixation with plate fixation, and 7 (5.7%) underwent plate fixation only. The average duration of maxillomandibular fixation was 26 days (range, 7–49 days). Complications occurred in 11 patients (9.0%) over a mean follow-up of 92 days (range, 21–702 days). Fifty patients (41.0%) had comorbid conditions or a history of mental illness at the time of injury, including attention deficit hyperactivity disorder (n = 11 [9%]), mental disorders other than attention deficit hyperactivity disorder (n = 23 [19%]), and asthma (n = 17 [14%]). Twenty-six patients (21%) had a history of substance use, the most common being tobacco (n = 18 [15%]), alcohol (n = 13 [11%]), and marijuana (n = 11 [9%]).

Conclusions

Treatment approach and outcomes were affected by age and fracture characteristics. In addition, a marked proportion of this cohort had preexisting mental disorders and history of substance use, which may have implications on treatment approach.     

Quality of life after adenotonsillectomy for children with sleep-disordered breathing: A linear mixed model analysis

Objective

To study changes in quality of life (QoL) after adenotonsillectomy (T&A) in children with sleep-disordered breathing (SDB), and to elucidate discrepancies in QoL improvements after T&A in children of different gender, age, adiposity status, and disease severity.

Materials and methods

Children aged 2–18 years were recruited. All children had SDB-related symptoms and underwent preoperative full-night polysomnography (PSG). Caregivers completed the first obstructive sleep apnea 18-items questionnaire (OSA-18) prior to T&A and the second OSA-18 survey within 3 months after surgery. Disease severity was defined as primary snoring (apnea/hypopnea index, AHI < 1), mild obstructive sleep apnea (OSA) (5 > AHI ≥1), and moderate-to-severe OSA (AHI ≥ 5). Discrepancies in OSA-18 score changes after T&A for different groups were assessed using the linear mixed model.

Results

In total, 144 children were enrolled (mean age, 7.0 ± 3.6 years; 76% boy). The OSA-18 total score changes after surgery were not significantly different by gender (boys vs. girls), age group (≥6 years vs. <6 years), or adiposity (obese vs. non-obese). The OSA-18 total score changes after surgery differed by disease severity (primary snoring vs. moderate-to-severe OSA, P = 0.004; mild OSA vs. moderate-to-severe OSA, P = 0.003). Children with moderate-to-severe OSA had greater improvement in OSA-18 total score after surgery than those with mild OSA or primary snoring.

Conclusions

Children with SDB had QoL improvement after T&A, as documented by OSA-18 score changes. The QoL improvement after T&A for SDB children increased as disease severity increased, and the improvement was not affected by gender, age, or adiposity.     

Beyond adenotonsillectomy: Outcomes of sleep endoscopy-directed treatments in pediatric obstructive sleep apnea

Objectives

In this study we determine the subjective and objective outcomes of pediatric patients with refractory OSA undergoing drug-induced sleep endoscopy (DISE)-directed surgical treatment.

Methods

31 consecutive children with OSA following TA underwent DISE. 26 completed DISE-directed operative management of the level(s) of ongoing upper airway obstruction. Pre- and postoperative OSA were assessed through a detailed history (of nighttime symptoms (NS) and daytime symptoms (DS)), physical examination, and polysomnography.

Results

Age ranged 5–18 years (mean 9.7 ± 3.4). Fourteen of 26 had trisomy 21 (51%). Operations were performed in the following frequencies: lingual tonsillectomy (LT) (22), midline posterior glossectomy (MPG) (16), revision adenoidectomy (11), inferior turbinate submucosal resection (7), uvulopalatoplasty (2), and supraglottoplasty (2). Overall, 92% reported subjective improvement. NS improved from 5.8 ± 2.9 preoperatively to 2.1 ± 2.5 postoperatively (p < 0.05), while DS improved from 2.1 ± 1.3 preoperatively to 0.6 ± 1.1 postoperatively (p < 0.05). Seventeen patients completed preoperative polysomnography, while only 11 of them also completed postoperative polysomnography. Mean OAHI fell from 7.0 (±5.8) events/hr to 3.6 (±1.8) events/hr (t-test, p = 0.09).

Conclusions

Individualized, multilevel, DISE-directed operative therapy was associated with substantial improvement in subjective measures of sleep.     

Radiotherapy concurrent with S-1 and radiotherapy alone for T2N0 glottic carcinoma: A retrospective comparative study

Objective

We examined the completion rate, safety, and adverse events in patients with T2N0 glottic carcinoma who received chemoradiotherapy with S-1 (tegafur–gimeracil–oteracil potassium).

Methods

In T2N0 glottic carcinoma patients, we retrospectively compared the local control rate and outpatient therapy completion rate between 20 patients who received radiotherapy plus S-1 (S-1 group) and 20 who received radiotherapy alone (RT group).

Results

Local recurrence was not detected in any of the 20 subjects from the S-1 group, whereas local recurrence was found in 4 of the 20 subjects (20%) from the RT group (p < 0.05). Outpatient treatment was completed by 15 of the 20 subjects from the S-1 group and 17 of the 20 subjects from the RT group (p = 0.43).

Conclusion

We investigated chemoradiotherapy with S-1 in patients who had T2N0 glottic carcinoma and found a higher local control rate when compared with radiotherapy alone as well as comparable safety for outpatient delivery.     

Clinical utility of PPPM and FPS-R to quantify post-tonsillectomy pain in children

Objectives

As pain is a subjective and difficult parameter to assess in children, we aimed to evaluate the correspondence of two pain scales – parents’ post-operative pain measure (PPPM) and faces pain scale-revised (FPS-R) with analgesic intake in the assessment of post-tonsillectomy pain in a pediatric population.

Methods

Children aged 4–10 years (n = 174) undergoing tonsillectomy with or without adenoidectomy had their pain monitored by PPPM and FPS-R over 7 days following surgery. The amount of analgesic (acetaminophen or dipyrone) intake was also recorded each day. Linear regression and correlation analysis were performed for pain scales and Poisson regression model for analgesic administration. To evaluate influence of gender linear regression and logistic regression with random effects were performed.

Results

PPPM and FPS-R presented a significant positive correlation (τ = 0.5; R² = 0.36; p < 0.001). PPPM and FPS-R also showed a significant correlation with analgesic use over the 7 post-operative days (p < 0.0001). No influence of gender was observed in pain levels by both scales.

Conclusions

Our data demonstrate that PPPM and FPS-R are equivalent pain scales to quantify post-tonsillectomy pain in children and are useful tools in post-tonsillectomy clinical research.     

Predicting safe tonsillectomy for ambulatory surgery

Objectives

To assess the safety of tonsillectomy procedure in local setting.

Methods

Retrospective review of 267 tonsillectomy patients in Tengku Ampuan Afzan Hospital, Malaysia from January 2006 to December 2007.

Results

Only 2.6% had trauma, 1.1% had difficult intubation, 0.7% had anaesthetic complication and none developed bleeding intra-operatively. Post-operatively, both primary and secondary haemorrhage showed prevalence of 1.9% each, 1.1% patients had infection and 0.4% patients had inability of extubation while another 1.9% had other complications. Duration of post-operative hospital stay was only slightly increased with occurrence of intra-operative complications but not with post-operative complications. Significant increase in risk was observed for both primary haemorrhage (OR: 1.05, 95% CI 1.01–1.09 min, P = 0.020) and respiratory complications (OR: 1.08, 95% CI 1.01–1.16 min, P = 0.024) by 4.5% and 8.3%, respectively, with every 1-min increase in length of surgery.

Conclusions

The observed low prevalence of complications corresponded with large number of studies denoting safety of tonsillectomy. This may well be increased by appropriately reducing the length of surgery. Although predictors for complications were unable to be determined, it is not advisable for ambulatory tonsillectomy to be performed on OSA patients considering the respiratory complications observed in our setting.     

Obstructive sleep apnea in younger school children with Down syndrome

Objective

We aimed to assess the prevalence of obstructive sleep apnea (OSA) in 8 year old school children with Down syndrome (DS). While the prevalence in otherwise healthy children is below 5%, the prevalence estimates in children with DS are uncertain (30–80%). OSA directly affects cognitive development and school performance.

Study design

Population based cross sectional study in a limited geographical area.

Methods

Polysomnography (PSG) with video and audio recordings was performed in 8-year-old children with DS in a pediatric sleep unit according to the guidelines of American Academy of Sleep Medicine. Twenty-nine of all 32 children with DS within a restricted area comprising >50% of the Norwegian population and 54% of the children with DS born in Norway in 2002 were enrolled.

Results

This study reports an apnea hypopnea index AHI > 1.5 in 28 of 29 children and an obstructive apnea index (OAI) > 1 in 24 of 29 children. 19 children (66%) had an AHI > 5 and 17 children (59%) had an OAI > 5 which indicated moderate to severe OSA. No correlation was found between OSA and obesity or gender.

Conclusion

The high prevalence of disease found in these previously undiagnosed 8-year-old children underlines the importance of performing OSA diagnostics in children with DS throughout childhood. These findings suggest that the prevalence of OSA remains high up to early school years. In contrast to earlier publications, this current study has the advantage of being population based, the study is performed on children of a narrow age band to estimate prevalence of disease and the diagnostic gold standard of PSG is applied.     

Preoperative cytology with molecular analysis to help guide surgery for pediatric thyroid nodules

Objectives

To discuss the use of molecular mutation analysis in the surgical management of pediatric thyroid nodules.

Methods

This study is a case series with retrospective chart review performed at a tertiary children's hospital. Pediatric patients who presented to the Children's Hospital of Pittsburgh of UPMC with a thyroid nodule and had subsequent fine needle aspiration with positive molecular mutation between November 2009 and February 2012 were identified and charts were reviewed. Patient demographics, presenting signs, lab results, pathologic findings, and surgical outcomes were collected.

Results

5 pediatric patients with positive molecular mutation studies on preoperative FNA were identified. FNA results were categorized as follows: suspicious for follicular neoplasm (n = 2), suspicious for malignant cells (n = 1), and positive for malignant cells (n = 2). The following molecular mutations were identified: BRAF (V600E) (n = 2), PAX8/PPARγ (n = 1), HRAS (n = 1), and RET/PTC (n = 1). A total thyroidectomy was performed on each patient. In all cases the final pathology was positive for malignancy (papillary thyroid carcinoma (PTC), n = 3; follicular variant of PTC, n = 2). Three of five patients had transient postsurgical hypocalcemia. There were no other postoperative complications.

Conclusions

This series provides evidence that preoperative FNA with reflex molecular testing in pediatric thyroid nodules can help guide surgical decision making, reduce the need for repeat surgeries, and diminish the risk of complications from a staged procedure.     

Upper airway obstructions and chronic otitis media: A clinical study

Purpose

To investigate if pathologies causing upper airway obstructions are correlated with chronic otitis media.

Materials and methods

One hundred fourteen patients with chronic otitis media and 114 healthy controls were enrolled in this study. Nasal septal deviation, Friedman and Mallampati scores were assessed for upper airway obstructions. Chronic suppurative otitis media was classified into tubotypmanic (n = 80) and atticoantral (n = 34) subtypes. Number of patients with septal deviation with a convexity to the same side as the affected ear in each CSOM subgroup was compared with chi-square test. The mean Mallampati and Friedman scores in tubotympanic disease group, atticoantral disease group and healthy controls were compared using Kruskal–Wallis test.

Results

Septal deviation occurred more frequently on the same side of ear pathology in patients with tubotympanic chronic suppurative otitis media (p = 0.0005). Such a difference was not observed between the controls and patients with atticoantral chronic suppurative otitis media (p = 0.718). No significant difference was noted between patients and controls in terms of Mallampati and Friedman scores (p = 0.602 and p = 0.836, respectively). Subtypes of chronic suppurative otitis media were not different from each other in terms of Mallampati and Friedman scores either (p = 0.718 and p = 0.708).

Conclusion

Our results indicate that septal deviations may commonly occur on the same side with chronic otitis media. Therefore, septal deviations must be carefully investigated during the preoperative assessment of patients with CSOM. Elucidation of any possible causal relationship calls for further trials in larger series.     

Detection of isolated covert saccades with the video head impulse test in peripheral vestibular disorders

Objectives

The function of the semicircular canal receptors and the pathway of the vestibulo-ocular-reflex (VOR) can be diagnosed with the clinical head impulse test (cHIT). Recently, the video head impulse test (vHIT) has been introduced but so far there is little clinical experience with the vHIT in patients with peripheral vestibular disorders. The aim of the study was to investigate the horizontal VOR (hVOR) by means of vHIT in peripheral vestibular disorders.

Methods

Using the vHIT, we examined the hVOR in a group of 117 patients and a control group of 20 healthy subjects. The group of patients included vestibular neuritis (VN) (n = 52), vestibular schwannoma (VS) (n = 31), Ménière's disease (MD) (n = 22) and bilateral vestibulopathy (BV) (n = 12).

Results

Normal hVOR gain was at 0.96 ± 0.08, while abnormal hVOR gain was at 0.44 ± 0.20 (79.1% of all cases). An abnormal vHIT was found in VN (94.2%), VS (61.3%), MD (54.5%) and BV (91.7%). Three conditions of refixation saccades occurred frequently in cases with abnormal hVOR: isolated covert saccades (13.7%), isolated overt saccades (34.3%) and the combination of overt and covert saccades (52.0%).

Conclusions

The vHIT detects abnormal hVOR changes in the combination of gain assessment and refixation saccades. Since isolated covert saccades in hVOR changes can only be seen with vHIT, peripheral vestibular disorders are likely to be diagnosed incorrectly with the cHIT to a certain amount.     

Obstructive hypopnea and gastroesophageal reflux as factors associated with residual obstructive sleep apnea syndrome

Objective

The mechanism of persisting obstructive sleep apnea (OSA) after adenotonsillectomy is not fully explained. The purpose of this study was to evaluate factors associated with residual OSA. The primary outcome measures were metabolic tests and polysomnographic respiratory indices in children with residual disease compared with children who were diagnosed with OSA but were untreated. Secondary outcome measures were acid gastroesophageal reflux indices recorded parallel to the sleep study.

Methods

In the one-year study consecutive series of patients with sleep disordered breathing hospitalized in a tertiary pediatric center were evaluated. Following the study protocol a sleep interview, physical examination, metabolic blood tests (serum leptin and the homeostasis model assessment index for insulin resistance, HOMA-IR) and an overnight polysomnography with pH-metry recording were performed. Children diagnosed with OSA were analyzed in two groups: I - residual OSA (after surgery), II - non-residual OSA (newly diagnosed). Logistic regression analysis was applied to obtain significant risk factors for prediction of OSA.

Results

Fifty-seven children (mean age ± SE, 6.9 ± 0.5 years; 66.7% boys) met the inclusion criteria and were enrolled in the study as residual (n = 19) or non-residual OSA (n = 38). The groups differed significantly in mean oxygen saturation, SpO₂ (94.3% vs. 96.2%; p = 0.018 respectively), in the Apnea Hypopnea Index, (20.6/h vs. 9.1/h; p < 0.03), the number of respiratory arousals with desaturation (2.2/h vs. 0.8/h; p < 0.03); mean intraluminal esophageal pH (5.36 vs. 5.86; p = 0.007) and the Reflux Index (9.61% vs. 4.35%; p = 0.003). The groups did not differ in total sleep time, tonsil size, BMI z-score and blood metabolic indices. Logistic regression analysis showed that residual OSA was significantly predicted by two polygraphic findings: the obstructive hypopnea index (OR 1.15; 95% CI 1.02-1.28; p = 0.014) and by the Reflux Index (OR 1.01; 95% CI 1.00-1.34; p = 0.042).

Conclusions

1. Obstructive hypopneas, rather than obstructive apneas, persist after adenotonsillar surgery resulting in residual OSA. 2. Children with residual OSA are at higher risk of acid gastroesophageal reflux and should be evaluated for gastroesophageal reflux disease.     

Prenatal consultation with the pediatric otolaryngologist

Objectives

To examine the spectrum of fetal head and neck anomalies that may prompt prenatal referral and to determine the frequency of these consultations.

Study design

Case series with chart review.

Methods

The billing databases of two urban pediatric otolaryngology practices were queried for ICD-9 codes corresponding to fetal anomalies between January 2010 and December 2012. The pediatric otolaryngology practices in this study evaluate all fetal head and neck anomalies referred to their respective institutions, including craniofacial disorders.

Results

Over a three-year period, 53 women presented for fetal otolaryngology consultation, with each practice seeing approximately one consultation every 6 weeks (every 5 weeks (JDS) and every 7 weeks (ARS)). The average maternal and gestational age at presentation were 28.7 years and 27.2 weeks, respectively. 83% of the cases (n = 44) involved some form of cleft lip with or without cleft palate. Other head and neck anomalies included fetal goiter/other congenital neck mass (9% (n = 5)) and micrognathia (6% (n = 3)). Macroglossia (n = 1) and facial cleft (n = 1) each accounted for 2% of cases. Cleft mothers presented earlier in pregnancy (average 26.8 weeks) than those with a neck mass (average 32.3 weeks) (p < 0.05). Only 3 cases (6%) merited ex utero intrapartum treatment.

Conclusions

Depending on the referral practices at a given medical center, craniofacial surgeons rather than pediatric otolaryngologists may be evaluating the majority of fetal head and neck anomalies, as orofacial clefts account for most prenatal consultations. The wide spectrum of congenital neck masses may or may not demand monitoring of the airway during the peripartum period.     

Investigation of FGF1 and FGFR gene polymorphisms in a group of Iranian patients with nonsyndromic cleft lip with or without cleft palate

Objective

Nonsyndromic cleft lip with or without cleft palate (NS-CL/P) is one of the most common craniofacial malformations determined by the interaction between multiple genes and environmental risk factors. Genes coding for fibroblast growth factors and their receptors (FGF/FGFR genes) are considered as excellent candidate genes, which their proteins play important roles in craniofacial and palatal development. The aim of the current study was to assess the possible association between FGF1 rs34010 C>A and FGFR1 rs13317 A>G gene polymorphisms and susceptibility to NS-CL/P in an Iranian population.

Design

This case–control retrospective study was performed on a total of 200 subjects including 100 NS-CL/P patients and 100 healthy unrelated controls. Tetra amplification refractory mutation system-polymerase chain reaction (T-ARMS-PCR) was used to detect FGF1 rs34010 C>A and FGFR1 rs13317 A>G SNPs.

Results

Our data demonstrated that the FGF1 rs34010, CA and CA + AA genotypes were associated with a reduced risk of NS-CL/P the in codominant (CA vs. CC: OR = 0.29, 95%CI = 0.16–0.55, P = 0.001) and dominant (CA + AA vs. CC: OR = 0.36, 95%CI = 0.19–0.69, P = 0.001) tested inheritance models, respectively. Additionally, the analysis of FGF1/FGFR1 genotype combinations revealed that rs34010CA/rs13317AA and rs34010CA/rs13317AG combinations were associated with a lower risk of NS-CL/P (OR = 0.357, P = 0.008 for the rs34010CA/rs13317AA; OR = 0.226, P = 0.004 for the rs34010CA/rs13317AG).

Conclusions

Our findings suggest that the FGF1 rs34010 C/A polymorphism was associated with a decreased risk of NS-CL/P, and might act as a protective factor against NS-CL/P predisposition.     

Body mass index as an indicator of obstructive sleep apnea in pediatric Down syndrome

Objective

Our objective was to determine if higher body mass index (BMI) increases the likelihood of, obstructive sleep apnea (OSA) in pediatric Down syndrome (DS) patients.

Methods

We performed a, retrospective chart review of 63 DS patients evaluated by overnight polysomnography from December 1995 to February 2005. Patients aged less than 2 years were excluded. Remaining patients were grouped, according to presence (n = 19) or absence (n = 33) of OSA based on apnea hypopnea index (AHI). OSA, and non-OSA DS groups were age matched while blinded to patient attributes other than age and OSA, status. Patients without appropriate age matches were excluded. We recorded various patient information, including age, sex, height, weight, number of apneas, number of hypopneas, respiratory distress index (RDI), apnea-hypopnea index (AHI), lowest oxygen saturation during sleep, mean oxygen saturation, number of arousals per hour, and mean time spent in REM sleep. We calculated BMI using the, standard kg/m² formula and converted this into a Z-score.

Results

Fifty-two DS patients were analyzed with average age of 9.3 ± 4.5 years (10.2 ± 4.2 in 33 OSA patients, 7.8 ± 4.3 in 19 non-OSA patients). There were 28 males and 24 females. The OSA group mean BMI Z-score was 2.09 ± 0.94, and the non-OSA group Z-score was 1.4 ± 1.40. The Z-scores for BMI were statistically significant between OSA and non-OSA patients with p = 0.03 by t-test.

Conclusions

When age and sex adjusted, BMI has a statistically significant association with the presence of OSA in Down syndrome patients. The incidence of OSA also increases with increasing age in this population.     

Association of childhood high body mass index and sleep disordered breathing with perioperative laryngospasm

Background

Childhood high body mass index (BMI) and sleep disordered breathing (SDB) are increasingly prevalent and both are associated with perioperative respiratory complications. Laryngospasm is one of the more serious respiratory complications with potentially devastating consequences. It is presently unclear whether high BMI and incident SDB in children significantly amplifies the risks of perioperative laryngospasm. This study examined the hypothesis that compared to controls; children with high BMI and SDB at the time of surgery have higher rates of perioperative laryngospasm.

Methods

Children (6–18 yr) who underwent elective, non-cardiac operations at a tertiary care center were the subjects of this cross-sectional study. Rates of perioperative laryngospasm were compared between normal controls and children who were overweight/obese and had clinical history of SDB at the time of surgery. Stepwise logistic regression analysis was performed to identify independent predictors of perioperative laryngospasm (dependent variable) using high BMI/SDB as the primary predictor variable.

Results

Among 642 children, those who were overweight/obese and had incident SDB (N = 197) were younger, and had higher indexes of central adiposity. Children with high BMI and SDB had 3.8 times higher unadjusted odds of developing intraoperative laryngospasm (OR = 3.8; 95% CI = 2.1–6.9, p < 0.001). After adjusting for several relevant covariates, the following factors were found to be independent predictors of perioperative laryngospasm: high BMI + SDB, male sex and increasing neck circumference.

Conclusion

High BMI and incident SDB in children is associated with increased rates of perioperative laryngospasm. The mechanism(s) underlying this propensity to laryngospasm deserve further elucidation.     

Incidence and predictors of malignancy in children with persistent cervical lymphadenopathy

Objective

The aim of this study was to analyze the clinical and histopathologic aspects of persistent cervical lymphadenopathies in children.

Methods

This retrospective study included 98 children who underwent surgical excision for persistently swollen cervical lymph nodes between 2001 and 2013. Lymph nodes greater than 1.5 cm that persisted for more than 4 weeks and were unresponsive to an initial antibiotic treatment were considered “persistent”. The largest lymph node with an abnormal ultrasonographic appearance was selected for surgical biopsy. The patients were divided into 2 groups according to the histopathologic outcome: benign or malignant.

Results

No significant differences were found between the groups regarding the mean size and mean duration of the swollen cervical lymph nodes (p = 0.147 and p = 0.446, respectively). The area under the ROC curve was 0.567 (95% confidence interval = 0.463–0.667, p = 0.259) for lymph node size and 0.507 (95% confidence interval = 0.404–0.609, p = 0.909) for the duration of the cervical lymphadenopathy. There was no significant difference in the presence of B symptoms between the two groups (p = 0.519). No significant difference was found between benign and malignant groups regarding bilaterality (p = 0.913).

Conclusions

The findings of our study demonstrated that the size and duration of cervical lymphadenopathy, bilateral or unilateral involvement and the presence or absence of B symptoms are not indicators of malignancy. We found a high incidence of malignancy in pediatric cervical lymphadenopathy cases in contrast to other current studies.