Kleine-Levin syndrome is associated with birth difficulties and genetic variants in the TRANK1 gene loci.

Kleine-Levin syndrome (KLS) is a rare disorder characterized by severe episodic hypersomnia, with cognitive impairment accompanied by apathy or disinhibition. Pathophysiology is unknown, although imaging studies indicate decreased activity in hypothalamic/thalamic areas during episodes. Familial occurrence is increased, and risk is associated with reports of a difficult birth. We conducted a worldwide case-control genome-wide association study in 673 KLS cases collected over 14 y, and ethnically matched 15,341 control individuals. We found a strong genome-wide significant association (rs71947865, Odds Ratio [OR] = 1.48, P = 8.6 × 10-9) within the 3'region of TRANK1 gene locus, previously associated with bipolar disorder and schizophrenia. Strikingly, KLS cases with rs71947865 variant had significantly increased reports of a difficult birth. As perinatal outcomes have dramatically improved over the last 40 y, we further stratified our sample by birth years and found that recent cases had a significantly reduced rs71947865 association. While the rs71947865 association did not replicate in the entire follow-up sample of 171 KLS cases, rs71947865 was significantly associated with KLS in the subset follow-up sample of 59 KLS cases who reported birth difficulties (OR = 1.54, P = 0.01). Genetic liability of KLS as explained by polygenic risk scores was increased (pseudo R2 = 0.15; P < 2.0 × 10-22 at P = 0.5 threshold) in the follow-up sample. Pathway analysis of genetic associations identified enrichment of circadian regulation pathway genes in KLS cases. Our results suggest links between KLS, circadian regulation, and bipolar disorder, and indicate that the TRANK1 polymorphisms in conjunction with reported birth difficulties may predispose to KLS.

Eosinophil cell count in bronchoalveolar lavage fluid in early childhood wheezing: is it predictive of future asthma?

Objective: Increased eosinophil level in bronchoalveolar lavage fluid (BALF) characterizes asthma in school-age children and adults and has been suggested as a marker for disease severity and response to treatment. We aimed to investigate the occurrence and yield of BALF eosinophil cell count in preschool children with recurrent wheezing and its possible relation to future diagnosis of asthma. Methods: BALF was retrospectively studied in young wheezy children and its relation to asthma at age 6 years was evaluated. BALF from children aged 1-48 months (mean = 20.4) was analyzed in preschool wheezy children. Children with anatomical airway obstruction and other lower airway/lung diseases who underwent BALF served as controls. Assessment of asthma was accomplished at 6 years. Results: Eighty-two children were included. The mean age during bronchoscopy and BAL was 20.4 ± 14.4 months (range: 1-48 months). Twenty-six patients had recurrent preschool wheezing, 13 anatomical airway obstruction and 43 had other lower airways/lung diseases. Groups were comparable for age during bronchoscopy and gender. No difference was found between groups for any of the BALF cell types. Eosinophils were very low in all three groups [mean (interquartile range): 0 (0-0.4), 0 (0-0.8), and 0.4 (0-1), respectively, p = 0.25]. No difference in eosinophil levels during bronchoscopy was found between asthmatic children to non-asthmatic as defined at age 6 years. Conclusions: Wheezing in preschool children is not associated with increased BALF eosinophils; hence, at this age, the diagnostic yield of BALF for cell count analysis for diagnosing asthma is limited and is not routinely indicated.

Respiratory effects of acute milk consumption among asthmatic and non-asthmatic children: a randomized controlled study.

BACKGROUND: A commonly held public belief is that cow's milk products increase mucus production and respiratory symptoms. Dietary milk elimination is often attempted despite lack of evidence. Our objective was to investigate whether a single exposure to cow's milk is associated with respiratory symptoms and changes in pulmonary functions in asthmatic and non-asthmatic children. METHODS: We conducted a prospective double blind, placebo-controlled trial on non-asthmatic and asthmatic children aged 6-18 years evaluated at a pediatric pulmonology unit. The children were randomly challenged with cow's milk or soy milk substitute. Symptoms, spirometry, fractional-exhaled nitric-oxide (FeNO), and pulse oximetry findings were obtained at baseline and at 30, 60, 90, and 120 min following challenge. A two-way ANCOVA (with repeated measures when required) was used to compare the performances of all groups and subgroups over time. The outcome measures of each participant were compared to his/her own variables over time and in relation to his/her baseline values. In case of missing data points, missingness analysis was performed using Little's missing completely at random (MCAR) test. RESULTS: Fifty non-asthmatic children (26 assigned to the cow's milk group and 24 to the soy substitute group), and 46 asthmatic children (22 in the cow's milk group and 24 in the soy substitute group) were enrolled. Age, gender, and body mass index Z-score were comparable between the two groups. No changes in symptoms, spirometry, FeNO, or oxygen saturation measurements were observed following challenge in any of the participants in both groups, at any time point compared to baseline. CONCLUSIONS: A single exposure to cow's milk is not associated with symptoms, bronchial inflammation, or bronchial constriction in both non-asthmatic and asthmatic children. Our findings do not support the strict elimination of dairy products from a child's diet for the prevention of respiratory symptoms. TRIAL REGISTRATION: This study was approved by the Tel Aviv Sourasky Medical Center Institutional Review Board and the Israeli Ministry of Health review board (Helsinki Committee, NIH #NCT02745899). Registered April 2016 https://clinicaltrials.gov/ct2/show/NCT02745899?cond=milk+asthma&rank=1 .

Congenital central hypoventilation syndrome: Severe disease caused by co-occurrence of two PHOX2B variants inherited separately from asymptomatic family members.

Congenital Central Hypoventilation Syndrome (CCHS) is a rare disease characterized by autonomic nervous system dysregulation. Central hypoventilation is the most prominent and clinically important presentation. CCHS is caused by mutations in paired-like homeobox 2b (PHOX2B) and is inherited in an autosomal dominant pattern. A co-occurrence of two asymptomatic PHOX2B variants with a classical CCHS presentation highlights the importance of clinical PHOX2B testing in parents and family members of all CCHS probands. Despite being an autosomal dominant disease, once a polyalanine repeat expansion mutation has been identified, sequencing of the other allele should also be considered.

Low parental tolerance for infant crying: an underlying factor in infant sleep problems?

Parenting behaviours play a major role in the evolution of infant sleep. Sleep problems in infancy have been associated with excessive parental involvement at night-time, and with shorter delays in response to infant night wakings and signalling. Infant crying and sleep problems are linked, yet little is known about the impact of parental responses to crying on infant sleep patterns. This study examined the hypothesis that lower parental tolerance for crying is associated with infant sleep problems. We studied 144 married couples divided into three groups: parents of infants suffering from night-waking problems (i.e. the clinical group), parents of infants without sleep problems and childless couples. Crying tolerance was assessed using questionnaires, audio recordings of crying infants and using a novel paradigm, in which participants were shown a video of a crying infant and asked when they would intervene. Parents in the clinical group demonstrated shorter intervention delays in the crying infant clip (group effect: P < 0.0001), and tended to attribute more distress to the crying infants compared to parents in both control groups (P < 0.05). Additionally, women demonstrated lower tolerance for infant crying on most measures compared to men. Our results suggest that parents of sleep-disturbed infants appear to have lower tolerance for infant crying, which may be a predisposition underlying their excessive involvement in soothing their infants to sleep which may lead to the development of sleep problems. These preliminary findings should be explored further to assess their clinical validity and utility.

Nasal nitric oxide in sleep-disordered breathing in children.

BACKGROUND: Inflammation plays a role in the pathogenesis and consequences of sleep-disordered breathing (SDB). The nasal mucosa and paranasal sinuses produce high levels of nitric oxide (NO). In asthma, exhaled NO is a marker of airway inflammation. There is only limited information whether nasal NO (nNO) accompanies also chronic upper airway obstruction, specifically, SDB. The objective of this study was to investigate nNO levels in children with SDB in comparison to healthy non-snoring children. METHODS: Nasal NO was measured in children who underwent overnight polysomnographic studies due to habitual snoring and suspected SDB and in healthy non-snoring controls. RESULTS: One hundred and eleven children participated in the study: 28 with obstructive sleep apnea (OSA), 60 with primary snoring (PS), and 23 controls. Nasal NO levels were significantly higher in children with OSA and PS compared to controls (867.4 ± 371.5, 902.0 ± 330.9, 644.1 ± 166.5 ppb, respectively, p = 0.047). No difference was observed between children with OSA and PS. No correlations were found between nNO levels and any of the PSG variables, nor with age, BMI percentile or tonsils size. CONCLUSIONS: Compared to healthy controls, nNO is increased in children with SDB, but it is not correlated with disease severity. This is probably due to the local mechanical processes and snoring.

The effect of maternal sleep-disordered breathing on the infant's neurodevelopment.

OBJECTIVE: We sought to examine the effect of maternal sleep-disordered breathing (SDB) on infant general movements (GMs) and neurodevelopment. STUDY DESIGN: Pregnant women with uncomplicated full-term pregnancies and their offspring were prospectively recruited from a community and hospital low-risk obstetric surveillance. All participants completed a sleep questionnaire on second trimester and underwent ambulatory sleep evaluation (WatchPAT; Itamar Medical, Caesarea, Israel). They were categorized as SDB (apnea hypopnea index>5) and controls. Infant GMs were assessed in the first 48 hours and at 8-11 and 14-16 weeks of age. At 12 months of age the Infant Developmental Inventory and the Brief Infant Sleep Questionnaire were administered. RESULTS: In all, 74 women and their full-term infants were studied. Eighteen (24%) women had SDB. Mean birthweight was 3347.1±423.9 g. Median Apgar score at 5 minutes was 10 (range, 8-10). In adjusted comparisons, no differences were found between infants born to mothers with SDB and controls in GM scores in all 3 evaluations. Low social developmental score was detected at 12 months in 64% of infants born to SDB mothers compared to 25% of infants born to controls (adjusted P=.036; odds ratio, 16.7). Infant snoring was reported by 41.7% of mothers with SDB compared to 7.5% of controls (P=.004). CONCLUSION: Our preliminary results suggest that maternal SDB during pregnancy has no adverse effect on neonatal and infant neuromotor development but may affect social development at 1 year.

Pediatric pulmonologists approach to the pre-operative management of the asthmatic child.

OBJECTIVE: No consensus guidelines exist for the respiratory treatment of asthmatic children referred for elective surgery. The aim of this study was to evaluate the attitude of pediatric pulmonologists regarding the pre-operative management of these children. METHODS: A survey of pre-operative management of asthmatic children was conducted. All 48 certified pediatric pulmonologists in Israel completed a questionnaire that comprised 20 questions regarding their approach to pre-operative management including six case scenarios with a variety of clinical situations and treatments of children with asthma. RESULTS: Response rate was 100%. All believed that pre-operative treatment should be considered in all asthmatic children. Almost 50% suggested that a pediatric pulmonologist should be consulted in all pre-operative assessments. 50% recommended consultation only in individual cases. Overall, results showed a very wide variability between responders especially in pre-school and poorly controlled school children. The variability referred to the use of bronchodilators, inhaled corticosteroids and their combination during the pre-operative days, the addition of systemic CS and the length of pre-operative treatment. Almost all participants suggested either the initiation or augmentation of pre-operative treatment in high risk situations. CONCLUSIONS: This data demonstrate an important variability among pediatric pulmonologists in Israel regarding the practice of pre-operative treatment of infants and children with asthma especially for the less controlled and high risk children. This is most probably explained by the paucity of evidence-based data and the lack of established guidelines. Consensus guidelines for the pre-operative management of asthmatic children are needed.

Surgical treatment for cervicomedullary compression among infants with achondroplasia.

PURPOSE: Achondroplasia is the most common form of dwarfism. Respiratory failure is responsible for most deaths among these children and is often related to cervicomedullary compression (CMC). We present our experience with early cervicomedullary decompression in infants with achondroplasia. METHODS: Data was retrospectively collected for infants with achondroplasia who underwent CMC decompression between 1998 and 2013. Data included presurgical and postsurgical neurological examinations, MRI scans, and sleep study results. RESULTS: Ten infants were included. Ages at surgery were 4 to 23 months (12.5 ± 6.88 months). All infants displayed neurological findings prior to surgery, although often subtle. All infants underwent a foramen magnum opening with a wide C1 laminectomy. Following surgery, seven patients (70 %) demonstrated improved neurological status, and one displayed neurological deterioration. Seven patients demonstrated improved sleep quality 1 year after surgery. These patients had a good or improved neurological status following surgery. Preoperative radiological findings included abnormal hyperintense T2 changes in all children (improved following surgery in six children), brainstem distortion in four children (improved in all), and diminished cerebrospinal fluid (CSF) spaces at the level of the foramen magnum in eight children (improved in seven). One child with extensive preoperative T2 changes accompanied by neurological and respiratory decline, deteriorated following surgery, and remains chronically ventilated. CONCLUSIONS: Infants with achondroplasia are prone to neurological and respiratory symptoms. We believe that early diagnosis and early surgery for decompression of the foramen magnum and C1 lamina can alleviate respiratory symptoms, improve neurological status, and perhaps prevent sudden infant death in this population.

Congenital Central Hypoventilation Syndrome in Israel-Novel Findings from a New National Center.

BACKGROUND: Congenital central hypoventilation syndrome (CCHS) is a rare autosomal-dominant disorder of the autonomic nervous system that results from mutations in the PHOX2B gene. A national CCHS center was founded in Israel in 2018. Unique new findings were observed. METHODS: All 27 CCHS patients in Israel were contacted and followed. Novel findings were observed. RESULTS: The prevalence of new CCHS cases was almost twice higher compared to other countries. The most common mutations in our cohort were polyalanine repeat mutations (PARM) 20/25, 20/26, 20/27 (combined = 85% of cases). Two patients showed unique recessive inheritance while their heterozygotes family members were asymptomatic. A right-sided cardio-neuromodulation was performed on an eight-year-old boy for recurrent asystoles by ablating the parasympathetic ganglionated plexi using radiofrequency (RF) energy. Over 36 months' follow-up with an implantable loop-recorder, no bradycardias/pauses events were observed. A cardiac pacemaker was avoided. CONCLUSIONS: A significant benefit and new information arise from a nationwide expert CCHS center for both clinical and basic purposes. The incidence of CCHS in some populations may be increased. Asymptomatic NPARM mutations may be much more common in the general population, leading to an autosomal recessive presentation of CCHS. RF cardio-neuromodulation offers a novel approach to children avoiding the need for permanent pacemaker implantation.

Sleep disturbances in children recovered from central nervous system neoplasms.

OBJECTIVES: To identify the prevalence of long-term sleep disturbances in children successfully treated for central nervous system tumors by use of subjective and objective tools. STUDY DESIGN: Children diagnosed and treated for central nervous system tumors and age-matched control subjects were studied. Information on demographics, tumor type, location, and therapies were collected. Parents completed a 28-item sleep questionnaire. Sleep was also evaluated with a sleep-log and actigraphy. RESULTS: Forty patients (52% males) and 61 matched control subjects (48% males) were evaluated. The mean ages were 9.9 ± 3.8 and 11.4 ± 3.8 years, respectively (P = NS). The mean time from diagnosis to participation was 4.1 ± 1.4 years. Children in the study group reported longer nighttime sleep compared with control subjects (572 ± 66 minutes vs 519 ± 79 minutes, P < .001; respectively). This was confirmed by actigraphy. These differences disappeared when comparison by age groups was performed. Two patients compared with none in the control subjects resumed daytime napping. No significant sleep disturbances were observed in the study group. No effect was found for tumor type, anatomic site, or adjuvant therapy. CONCLUSIONS: Recovered children with a history of brain tumor do not have significant sleep disorders. Their sleep is generally well preserved years after diagnosis and treatment. The possibility that excessive daytime somnolence affects a minority of these children needs further investigation.

The use of exhaled nitric oxide in the diagnosis of asthma in school children.

OBJECTIVES: To evaluate the yield of the fractional exhaled nitric oxide (FeNO) in the diagnosis of asthma compared with spirometry and induced sputum cytologic study in school-age children. STUDY DESIGN: Consecutive children referred for evaluation of possible asthma were included. At referral, all children completed FeNO measurement, sputum induction for eosinophil count (eos%) and spirometry. The diagnosis of asthma was performed after 18 months with conventional criteria. Receiver operating curves were used to determine cutoff points for disease status, and accuracy was calculated. RESULTS: A total of 150 children were included: 69 with steroid-naïve asthma, 44 without asthma, and 37 with asthma treated with controllers. FeNO and eos% levels were significantly higher in those with steroid-naïve asthma (P < .0001). The area under the receiver operating curve for FeNO and eos% were very high compared with forced expiratory volume in 1 second (0.906, 0.921, 0.606, respectively). The sensitivity, specificity, and positive and negative predictive values for best cutoff points of FeNO (19 parts per billion) were 80%, 92%, 89%, and 86%, respectively, and were similar to eos% (best cutoff = 2.7%): 81%, 92%, 89%, 85%, respectively. CONCLUSIONS: FeNO measurement is useful in early diagnosis of pediatric asthma. We suggest considering FeNO measurement in the evaluation of children suspected of having asthma, especially in cases where the diagnosis is not clear.

Clinical practice: sleep problems during infancy.

Sleep problems are very prevalent during infancy. The most common problems are those related to night wakings and sleep-disordered breathing (SDB). Most common night waking problems do not have identified physiologic etiology. Their causes appear to be behavioral or developmental by nature, and they usually respond well to behavioral interventions. SDB may result from a variety of anatomic and neurologic factors and is associated with a variety of medical and developmental disorders. Because of the high prevalence of sleep problems during infancy, their persistence, their potential adverse developmental effects, and the positive treatment outcomes, pediatricians should serve as the primary address for screening and referral to proper assessment and treatment.

[Kleine-Levin syndrome].

KLeine-Levin Syndrome (KLS) is a rare disease characterized by recurrent episodes of hypersomnia associated with cognitive and behavioral disturbances, compulsive eating behavior and hypersexuality. Episodes are separated by weeks or months of normal sleep and behavior. The disease predominantly affects adolescent males. The median duration of the disease is eight years. Fifteen percent of the KLS population is of Jewish origin and the incidence reported in Israel is unproportionately high. The etiology and pathophysiology are unknown. The current concept is that the disease is caused by genetic predisposition combined with environmental factors. Autoimmune etiology has also been suggested. KLS poses diagnostic and therapeutic challenges. Diagnosis is usually based on clinical manifestations. Physical examination including neurological evaluation is usually normal. EEG, brain imaging and CSF examination are normal. Stimulants are partially effective on sleepiness. Lithium was reported to induce positive effects in preventing or delaying recurrences. Increased awareness to KLS among physicians in Israel is important due to the relatively higher incidence of KLS among Jewish and IsraeLi patients.

Synchronous airway lesions in laryngomalacia.

OBJECTIVE: Laryngomalacia is the most common cause of congenital stridor. Laryngomalacia may be associated with other structural and functional airway lesions. While previous studies suggested a 10-45% rate of synchronous airway lesions (SALs), the exact rate and it's clinical significance is unknown. The purpose of this study was to determine the prevalence of SALs below the glottic level in congenital laryngomalacia, and to investigate possible relations with other clinical findings. METHODS: A cohort of 228 infants with congenital stridor who underwent fiberoptic flexible bronchoscopy (FFB) was analyzed. Data was collected from the hospital records. All procedures were reevaluated from the video recordings. RESULTS: SALs below the vocal cords were observed in 7.5% of the case (17/228). The most common SAL was tracheal bronchus followed by tracheomalacia and stenosis of the left main bronchus. No correlation was found between the presence of a SAL below the vocal cords and any other medical condition except for neurodevelopmental disorders. Except for one patient, all cases with SAL did not have any clinical symptoms or signs that would have suggested an accompanying airway lesion. CONCLUSIONS: The rate of SALs in infants with congenital stridor due to laryngomalacia is low and most of the additional lesions are benign. The yield of discovering clinically significant SALs below the glottic level is low and the routine search for a synchronous lesion below the vocal cords should be questioned. Except for underlying neurodevelopmental problems, no clear risk factors for the existence of SALs were identified.

Laryngeal ultrasound for the diagnosis of laryngomalacia in infants.

INTRODUCTION: Laryngomalacia is the most prevalent cause of congenital stridor. Flexible laryngobronchoscopy (FLB) is the gold standard for diagnosis. However, FLB requires venous access, deep sedation or general anesthesia, and is associated with patient's and parental discomfort and a considerable cost. Laryngeal ultrasound (LUS) has been shown to provide good evaluation of the normal anatomy and the dynamic motion of laryngeal structures. We investigated the yield of LUS in the diagnosis of laryngomalacia in infants with congenital stridor compared to FLB. METHODS: A prospective blind study of consecutive infants referred for FLB due to congenital stridor with unknown cause. The presence of arytenoids adduction on LUS during inspiration was used to diagnose laryngomalacia. LUS was followed by FLB under anesthesia. The physician performing the FLB was blinded to the LUS results. RESULTS: Twenty-four patients participated in the study (54% males). Median (IQR) age and weight were 3.5 (1-7.7) months and 5.1 (4-8.4) kg, respectively. LUS was well tolerated in all infants. Compared to FLB, LUS correctly diagnosed laryngomalacia in 11/14 (78.6%) infants. In 10 infants FLB ruled out laryngomalacia of whom LUS concurred in 9 infants and one was falsely diagnosed with laryngomalacia. LUS had a sensitivity of 78.5% (CI 52-95%), specificity of 90% (CI 49-94%), NPV of 75%, and PPV of 92%. ROC analysis demonstrated AUC of 0.84 (P < 0.01, 95%CI: 0.67-1.0). CONCLUSION: We suggest that LUS has a role in screening congenital stridor in otherwise healthy infants when laryngomalacia is highly probable.

Diagnosis of laryngomalacia by fiberoptic endoscopy: awake compared with anesthesia-aided technique.

RATIONALE: Fiberoptic flexible laryngoscopy (FFL) is the diagnostic procedure of choice in patients with laryngomalacia. Two techniques can be applied, either when the infant is awake or using anesthesia/sedation. The choice of technique may effect the diagnosis. STUDY OBJECTIVES: To compare the two techniques for diagnosing laryngomalacia. PATIENTS AND INTERVENTIONS: A total of 42 infants who underwent awake fiberoptic laryngoscopy for congenital stridor, in whom either laryngomalacia was diagnosed or no cause for stridor was found, underwent a repeat laryngoscopy using anesthesia/sedation. The 84 video recordings of the supraglottic portions were copied onto a videotape along with 25 recordings of normal upper airways without stridor and 31 duplicate cases with stridor. A total of 140 recordings was mixed at random on a videotape. Sound was not included. MEASUREMENTS: Three investigators (Y.S., J.B.A., and A.D.) independently scored each recording using a laryngomalacia scoring system (scoring range, 0 to 8). RESULTS: A threshold score of 2 was the optimal cutoff point for discriminating laryngomalacia from normal condition. The awake technique (WT) missed three cases of laryngomalacia and overdiagnosed one healthy control subject. The anesthesia technique was superior with a sensitivity of 100%, a specificity of 100%, a positive predictive value of 100%, and a negative predictive value of 100% compared with 93%, 92%, 97%, and 79%, respectively, for the WT. CONCLUSIONS: The diagnosis of laryngomalacia with FFL is more accurate using anesthesia/sedation. The WT may be appropriate for screening or for patients with mild cases having a characteristic presentation.

Alveolar ventilation in children during flexible bronchoscopy.

BACKGROUND: Hypoxia and hypercarbia complicate flexible bronchoscopy (FB). Unlike oxygenation by pulse-oximetry, alveolar ventilation is not routinely monitored during FB. The aim of this study was to investigate ventilation in children undergoing FB by measuring carbon-dioxide (CO2 ) levels using the transcutaneous technique. METHODS: Children admitted for FB were recruited. In addition to routine monitoring, transcutaneous CO2 (TcCO2 ) levels were recorded. All were sedated using the same protocol. RESULTS: Ninety-five children were studied. There was no association between peak TcCO2 or rise in TcCO2 and age, weight percentile, bronchoscope size, or diagnosis. Median baseline TcCO2 was 36 mmHg (IQR 32,40), median peak TcCO2 was 51 mmHg (IQR 43,62) with median TcCO2 rise of 17 mmHg (IQR 6.5,23.7). A rise of 15 mmHg or higher was recorded in 55% (n = 52) patients. Children requiring total propofol dose over 3.5 mg/kg had a significantly higher TcCO2 peak of 57.6 mmHg (IQR 47.8,66.7) compared to 47.1 mmHg (IQR 40,57) (P = 0.004) and a higher rise in TcCO2 22.5 mmHg (IQR 17,33.9) compared to 13.6 mmHg (6,22) (P = 0.001). Results were not affected by intranasal midazolam and broncho-alveolar lavage. No complications were reported. Non clinically significant (i.e., not lower than 90%) brief drops in oxygen saturation were observed. CONCLUSIONS: A large proportion of children undergoing FB have significant alveolar hypoventilation indicated by a rise in TcCO2 . Monitoring ventilation with TcCO2 is feasible and should be added during FB particularly in cases that are expected to require large amounts of sedation and patients susceptible to complications from respiratory acidosis. Pediatr Pulmonol. 2016;51:1177-1182. © 2016 Wiley Periodicals, Inc.

The history of primary snoring in children: the effect of adenotonsillectomy.

UNLABELLED: Primary snoring (PS) is considered as the most benign form of sleep-disordered breathing (SDB), and treatment is usually not prescribed. Studies suggest that PS may not be as benign as had formerly been considered. We aimed to investigate the natural history of PS in children with adenotonsillar hypertrophy, and compare those who underwent adenotonsillectomy (AT) with those who did not. MATERIAL AND METHODS: Children diagnosed with PS based on polysomnographic findings were included in the study. Information retrieved from their medical records, including medical history, physical examination, anthropometric measures, and polysomnography (PSG) results, was reviewed. A telephone interview was conducted 4-6 years following the PSG evaluation. The interview included the Pediatric Sleep Questionnaire Sleep-related Breathing Disorder (PSQ-SRBD) scale, demographics, anthropometric measures, and history of AT. RESULTS: A total of 248 children (56% males) were studied (mean age: 5.4 ± 3.4 years). Telephone interviews were conducted 5.3 ± 1.1 years following PSG. Sixty-four children (26%) underwent AT/adenoidectomy (A) following PSG. Of the 184 children who did not undergo surgery, 62 (34%) had positive PSQ-SRBD scores five years after diagnosis. Children with PS who underwent AT had better PSQ-SRBD scores at five years post diagnosis than the nonoperated children. CONCLUSIONS: A significant proportion of children with PS persist with SDB symptoms even five years following the diagnosis. In our cohort, a considerable percentage of children with a PSG diagnosis of PS underwent AT despite non-supportive sleep study results. Surgical intervention may have beneficial effects on some children with PS. Further studies using objective measures of sleep and incorporating the effect of SDB duration are required.