The contribution of medical burden to 22q11.2 deletion syndrome quality of life and functioning.

PURPOSE: To date, there is no systematic method to quantify the medical burden of individuals with 22q11.2 deletion syndrome (22q11.2DS). This study aimed to design a Medical Burden Scale for 22q11.2DS to evaluate the effect of medical symptoms severity on quality of life (QoL) and functioning in individuals with this syndrome. METHODS: Individuals with 22q11.2DS (n = 76) were included in the study. A multidisciplinary group of physicians determined the severity of symptoms (on a scale of 0 to 4) of 8 major medical systems affected in 22q11.2DS, as well as the level of cognitive deficits and psychiatric morbidity. Regression models were used to evaluate the impact of medical, cognitive, and psychiatric symptoms' severity on global assessment of functioning (GAF) and QoL. RESULTS: The total Medical Burden Scale score was significantly associated with both QoL and GAF scores, beyond the effect of the psychiatric and cognitive deficits. We also found that QoL and GAF scores were associated with the severity scores of specific medical systems, particularly neurological symptoms, but also cardiovascular, ear-nose-throat, endocrinology, and orthopedics. CONCLUSION: Quantifying the medical burden of 22q11.2DS individuals is feasible and indicates the overall and specific contribution of medical symptoms to QoL and functioning of 22q11.2DS individuals.

Clinical Features in a Large Cohort of Patients With 22q11.2 Deletion Syndrome.

OBJECTIVES: To evaluate various clinical aspects, specifically regarding immune status, in a large cohort of patients with DiGeorge syndrome. STUDY DESIGN: Data were collected for 98 patients with DiGeorge syndrome treated at a tertiary medical center. This included general information, laboratory results, and clinical features. RESULTS: The median age at diagnosis was 2.0 years (range, 0.0-36.5 years). The most common symptoms that led to diagnosis were congenital heart defect, speech delay, palate anomalies, and developmental delay. Common clinical features included recurrent infections (76 patients), congenital heart diseases (61 patients), and otorhinolaryngology disorders (61 patients). Twenty patients had anemia; the incidence was relatively high among patients aged 6-59 months. Thrombocytopenia was present in 20 patients. Recurrent chest infections were significantly higher in patients with T cell and T cell subset deficiencies. Decreased T cell receptor excision circles were more common with increasing age (P < .001). Of the 27 patients hospitalized due to infection, pneumonia was a leading cause in 13. CONCLUSIONS: Awareness of DiGeorge syndrome's typical and uncommon characteristics is important to improve diagnosis, treatment, surveillance, and follow-up.

Endoscopic Management of Benign Laryngo-Tracheal Stenosis: Balloon vs. Rigid Dilatation.

BACKGROUND: Management of acquired laryngotracheal stenosis (LTS) is challenging and often requires recurrent procedures. OBJECTIVES: To compare the efficacy and safety of balloon dilatation (BD) versus rigid dilatation (RD) in the treatment of LTS. METHODS: A retrospective study of patients undergoing endoscopic intervention for LTS was performed. RESULTS: The study included 69 balloon (BD) and 48 rigid dilations (RD). Most cases were grade 3 Cotton-Meyer stenosis. Mean time interval to recurrence after BD and RD were 27.9 and 19.6 weeks, respectively. Remission of over 8 weeks was achieved in 71% of BD compared to 31.2% of RD (P < 0.05). In the BD group, dilatation of subglottic stenosis showed higher rates of remission of over 8 weeks compared to upper and mid-tracheal stenosis (92% vs. 62% and 20%, respectively, P < 0.05). Complications were encountered in 4.2% of RD and 2.9% of BD. CONCLUSIONS: BD and RD are effective and safe procedures. Overall, BD achieved slightly better long-term results compared to RD.

Type I-II laryngeal cleft: clinical course and outcome.

BACKGROUND: Laryngeal cleft (LC) is a rare congenital anomaly manifesting in a variety of symptoms, including swallowing disorders and aspirations, dyspnea, stridor and hoarseness. The mild forms (types I-II) may be underdiagnosed, leading to protracted symptomatology and morbidity. OBJECTIVES: To evaluate the diagnostic process, clinical course, management and outcome in children with type I-II laryngeal clefts. METHODS: We conducted a retrospective case analysis for the years 2005-2012 in a tertiary referral center. RESULTS: Seven children were reviewed: five boys and two girls ranging in age from birth to 5 years. The most common presenting symptoms were cough, aspirations and pneumonia. Evaluation procedures included fiber-optic laryngoscopy (FOL), direct laryngoscopy (DL) and videofluoroscopy. Other pathologies were seen in three children. Six children underwent successful endoscopic surgery and one child was treated conservatively. The postoperative clinical course was uneventful in most of the cases. CONCLUSIONS: Types I-II LC should be considered in the differential diagnosis of children presenting with protracted cough and aspirations. DL is crucial for establishing the diagnosis. Endoscopic surgery is safe and should be applied promptly when conservative measures fail.

The Safety of Pediatric Bedside Tracheostomy.

OBJECTIVE: Traditionally, pediatric tracheostomy has been viewed as a technically demanding procedure with a high complication rate, requiring the routine use of a formal operating room. Pediatric bedside tracheostomy in an intensive care unit (ICU) setting has not been widely reported, in contrast to the widespread adult bedside ICU tracheostomy. Transport of these critically ill, multiple life support systems dependent patients can be technically difficult, labor intensive, and potentially risky for these patients. Our study aimed to demonstrate the safety and efficacy of bedside tracheostomy in the pediatric ICU. MATERIALS AND METHODS: A retrospective analysis of all pediatric patients undergoing tracheostomy at a tertiary care center, between 1st of January 2013 and 31st of December 2019. RESULTS: During the study period, 117 pediatric patients underwent tracheostomy, 57 (48.7%) were performed bedside while 60 (51.3%) were performed in the operating room. Patients' ages ranged from 2 weeks to 17 years of age, with a median age of 16 months. No case of bedside tracheostomy necessitated a shift to the operating room. There was no difference in 30-day morbidity and mortality between the 2 groups. CONCLUSIONS: Our results suggest that pediatric open bedside tracheostomy in an ICU setting is a safe procedure, with similar complications and outcomes compared to tracheostomy performed in the operating room.

Cricopharyngeal achalasia in children: surgical and medical treatment.

BACKGROUND: Cricopharyngeal achalasia (CA) is a rare cause of dysphagia in children presenting with non-specific symptoms such as choking, food regurgitation, nasal reflux, coughing, recurrent pneumonia, cyanosis, and failure to thrive. It results from failure of relaxation of the upper esophageal sphincter (UES) and may appea reither as an isolated lesion or in conjunction with other pathologies. Recognition and early diagnosis of this condition may minimize morbidity in children. OBJECTIVES: To evaluate the clinical course of four children with cricopharyngeal achalasia presenting to our clinic. METHODS: We conducted a 5 year retrospective chart review in a tertiary referral center. RESULTS: Four children were diagnosed with primary cricopharyngeal achalasia between 2006 and 2010. Diagnosis was established by videofluoroscopy and all underwent uneventful cricopharyngeal myotomy. Three children recovered completely and one child showed partial improvement. For residual UES spasm in a partially improved patient, botulinum toxin was injected into the UES which led to further improvement. Dysphagia recurred in one child who was successfully treated with botulinum toxin injection. CONCLUSIONS: Cricopharyngeal myotomy is a safe procedure in infants and young children. Botulinum toxin injection of the UES was found to be effective in refractory cases.

Integration of cochlear-implanted children into the general Israeli community.

BACKGROUND: Severe hearing impairment can have devastating effects on social integration and vocational opportunities. OBJECTIVES: To investigate how well--or poorly--individuals who underwent cochlear implantation as children integrated into the general Israeli hearing community. METHOD: We sent a questionnaire to the 30 subjects > or = 18 years old who underwent cochlear implants in our department from 1990 to 2004 when they were < 18 years of age and had used their device for at least 3 years before replying. RESULTS: Eighteen implant users responded (14 males), yielding a 60% response rate. Their mean age was 13.3 +/- 7.0 years (range 6-17) at implantation and 21.1 +/- 3.6 years (range 18-34) when they filled in the questionnaire. Five were attending rabbinical school (yeshiva students), four were in regular military service, five were university students (three also held jobs), two were attending high school, one was employed (and had a university degree), and one had left the yeshiva and was unemployed when he returned the questionnaire. Fourteen respondents use the oral communication mode for conversation and the other 4 use both oral and sign languages. Longer daily implant use was significantly associated with coping with the difficulties in the setting in which they were currently active, with a higher level of satisfaction with their current lifestyle and with recognition of the implant's contribution to this satisfaction (P = 0.037, P = 0.019 and P = 0.001, respectively). CONCLUSIONS: Advances in cochlear implant technologies enable profoundly deaf implanted children to integrate well into the Israeli hearing society, albeit with a large intersubject variability.

[Our experience with bilateral cochlear implantation].

Cochlear implantation is a standard method of hearing rehabilitation among patients with severe to profound bilateral sensorineural hearing loss. In recent years there have been an increasing number of studies showing superior hearing with bilateral cochlear implantation in comparison with a unilateral procedure. In this study we present our experience with 15 patients, children and adults, who had bilateral cochlear implant surgery. Speech perception test results demonstrated a hearing benefit in bilateral cochlear implantation in comparison with a unilateral device, mainly by improvement in the identification of speech in noise tests.

Hearing loss as the presenting feature of systemic vasculitis.

Hearing loss, both sensorineural and conductive, is a well-recognized manifestation of systemic vasculitis, yet has only infrequently been described as its initial presentation. We describe three cases in which hearing loss preceded the diagnosis of systemic vasculitis by a period of a few weeks to more than 6 months. While steroid therapy was initiated immediately in one of the cases, comprehensive immunosuppressive therapy was given only after additional manifestations compatible with vasculitis appeared, allowing for a diagnosis of Wegener's granulomatosis in two of the cases and undifferentiated vasculitis, in the third. Hearing improved in all patients, albeit, residual dysfunction remained. Prompt referral for a complete rheumatologic workup in cases of unexplained hearing loss would allow for a timely diagnosis of a collagen vascular disease and facilitate early initiation of systemic therapy, possibly yielding better audiological results.

Myringoplasty in children.

BACKGROUND: Tympanic membrane perforation (TMP) may be caused by acute and chronic otitis media, trauma and iatrogenic reasons. The goal of myringoplasty is to achieve a dry, self-cleansing ear with intact TM while preserving hearing. Literature review of myringoplasty outcome demonstrates results with different success rates and affecting factors. OBJECTIVES: The aim of this study was to evaluate TMP closure (TMPC) rate and hearing improvement and to assess the effect of clinical and surgical parameters on residual and recurrent perforation. MATERIALS AND METHODS: Retrospective chart analysis of pediatric patients who underwent myringoplasty between the years 2000-2015. Closure success rate and hearing improvement were evaluated. The influence of age and clinical and surgical variables over TMPC rate and recurrent perforation were examined. RESULTS: Our study cohort consisted of 165 myringoplasties in 151 children, with a mean age of 11.7 years (R = 4.8-17.9, Me = 12.0). At one month follow-up (FU) TMPC rate was 88% (145/165). Among patients with successful TMPC a mean improvement of air bone gap (ABG) and speech reception threshold (SRT) were 9.9 dB, p < 0.001 and 9.4 dB, p < 0.001, respectively. 58/145 (40%) patients with initial closure had a minimum FU of 6 months (Me = 12.0), during which time 8/58(13.8%) had a recurrent perforation. Surgery before 9 years of age was the only factor correlated with failed initial closure (p = 0.03) and recurrent perforation (p = 0.02). CONCLUSIONS: Pediatric myringoplasty is associated with high TMPC rate. Hearing improvement is to be expected in most hearing impaired patients. Age under 9 years is associated with significantly higher rates of persistent and recurrent perforation.

Low inter-arytenoid height: a subclassification of type 1 laryngeal cleft diagnosis and management.

OBJECTIVE: To report our experience of patients with type 1 laryngeal cleft, (including low inter-arytenoid height) who failed conservative management over a five year period. We describe the diagnostic elements of the history, examination at laryngobronchoscopy and provide a management algorithm including the use of inter-arytenoid submucosal injection of gelfoam as a temporary therapeutic as well as diagnostic tool. METHODS: A retrospective case note review over a five year period was undertaken to review all cases of type 1 laryngeal cleft who failed conservative management. Presenting symptoms, diagnostic procedures, surgical interventions and clinical outcomes were reviewed. RESULTS: Seventeen patients were identified. Chronic cough was the most consistent feature in the history (100%). All patients underwent a microlaryngoscopy with binocular microlaryngeal assessment. Six patients (35%) underwent gelfoam injection; four of these went on to a formal repair. The remaining 11 all had a repair performed without injection. The success of surgical repair was 80% (12/15) however in the other three, all had improvement in symptoms. CONCLUSIONS: Type 1 laryngeal cleft anomalies may extend beyond that described by Benjamin and Inglis. An appropriate history as well as binocular inspection at the time of laryngoscopy is essential. Injection augmentation offers a safe tool in the assessment and management, and endoscopic surgical repair remains the standard for definitive therapy in those that fail conservative management.

Telephone use among cochlear implanted children.

CONCLUSION: Telephone use among implanted children is significantly different from that of the normally hearing population of the same age. OBJECTIVE: To characterize the use of telephone in cochlear implanted children and compare it to that of age-matched normal-hearing children. METHODS: The study (n = 26) and control (n = 27) groups each consisted of children aged 5-17 years treated at a tertiary referral center. The study group included children who received a Med-El multichannel cochlear implant and had used it for at least 18 months. The control group comprised generally healthy children with normal hearing and no history of chronic ear disease or otologic surgery. The main outcome measures, evaluated through a questionnaire sent by mail, were comparison of telephone use and speech comprehension over the telephone between the study and control groups. RESULTS: The median age of the study and control groups was 9 and 7 years, respectively (p = 0.12). There was a significant difference between the two groups in the reported rate of telephone use (mean 128 and 244 min/week, respectively, p = 0.006) and speech comprehension of familiar persons and strangers, which was highly significant among teenagers. The reported sound quality was similar for the two groups.

Cochlear implantation in infants: special surgical and medical aspects.

OBJECTIVE: To present medical and surgical aspects of cochlear implantation (CI) in infants and to compare the rate of complications of CI in infants with that of older children. DESIGN: Retrospective study. METHOD: Fifteen infants and 57 children aged 1 to 2 years at the time of CI with a follow-up of at least 12 months were studied. RESULTS: Major complications (requiring explantation or revision surgery) occurred in 6.7% infants vs. 17.5% toddlers, P = .297. The rates for minor postoperative problems were 13.3% vs. 21.1%, respectively, P = .502. There were no incidents of surgery- or anesthesia-related complications in the present study. Device failure was found as a most common complication in older children (10.5%). Such patient-related complications as foreign body reaction, protrusion of the positioner and recurrent otitis media can result in device malfunction. Indeed, the rate of major complications supposed to increase with long-term follow-up. CONCLUSIONS: The surgical procedure for CI in infants is feasible and patient-related complications are usually minor and may be managed conservatively. Because most postoperative major problems are implant-related, improving cochlear implant technology can enhance the reliability of the devices and prevent untoward events that need for explantations and reimplantations. To reduce the risk of general anesthesia in infants we recommended the presence of pediatric anesthesiologist at surgery. Shortening time of surgery with using of nonmastoidectomy techniques for CI can reduce the time of bacterial exposure of the wound and prevent surgical complications related to the facial nerve and chorda tympani damage as well as electrode misplacement.

Identifying risk factors for premature rupture of membranes in small for gestational age neonates: a population-based study.

OBJECTIVE: To determine the prevalence and risk factors for premature rupture of membranes (PROM) among pregnancies complicated with small for gestational age (SGA) neonates. METHODS: A computerised database was used to identify deliveries of SGA neonates in pregnancies complicated with PROM between the years 1988 and 2002. Pregnancies with PROM and SGA neonates were compared to those with SGA and without PROM. Demographic, obstetric, clinical and labour characteristics were evaluated. Multiple logistic regression analysis was used to determine independent risk factors for PROM in pregnancies complicated by SGA. Statistical analysis was performed with SPSS package. RESULTS: There were 120 982 deliveries included out of which 6074 (5.99%) presented with appropriate for gestational age (AGA) neonates and PROM. A total of 1077 delivered SGA infants complicated with PROM (5.5%). After adjustment for confounding variables, the following characteristics were significantly associated with PROM and SGA: Jewish ethnicity, parity and cervical incompetence. The following complications were associated with PROM and SGA: arrest of labour, fetal distress, failed induction, cesarean delivery, clinical chorioamnionitis and placenta accreta. No significant differences regarding low Apgar scores and perinatal mortality rates were noted. CONCLUSIONS: The risk of PROM among patients with SGA is lower than in AGA infants. Parity and cervical incompetence are risk factors for PROM among women who delivered SGA neonates. In this population there is a higher rate of arrest of labour, chorioamnionitis, fetal distress and cesarean delivery. Neonatal outcome and perinatal mortality are similar in both groups.