Hoeve, L.J.

Subglottic stenosis in Shwachman-Diamond syndrome - Is there a link? (Article)

2012-10-01T00:00:00Z

Clinically relevant cartilaginous subglottic stenosis was found in 2 patients with Shwachman-Diamond syndrome (SDS) for which tracheotomy was required in one case. Considering the pathogenesis of SDS, including deficient chondrogenesis, we hypothesise that subglottic stenosis may be a rare symptom of SDS. Otorhinolaryngologist and paediatricians should be aware of the risk of airway pathology in patients with SDS.

Auditory brainstem response morphology and analysis in very preterm neonatal intensive care unit infants (Article)

2011-10-01T00:00:00Z

Objectives/Hypothesis: Analysis of auditory brainstem response (ABR) in very preterm infants can be difficult owing to the poor detectability of the various components of the ABR. We evaluated the ABR morphology and tried to extend the current assessment system. Study Design: Prospective cohort study. Methods: We included 28 preterm very low birth weight infants admitted to the neonatal intensive care unit of Sophia Children's Hospital. ABRs were measured between 26 and 34 weeks postconceptional age. The presence of the following ABR parameters was recorded: the ipsilateral peaks I, III and V, the contralateral peaks III and V, and the response threshold. Results: In 82% of our population, a typical "bow tie" response pattern was present as a sign of early auditory development. This bow tie pattern is the narrowest part of the response wave and is predominantly characterized by the ipsilateral negative peak III. This effect may be emphasized by the contralateral peak III. The bow tie pattern is seen approximately 0.1 milliseconds before the ipsilateral peak III. From 30 weeks postconceptional age onward, a more extensive morphologic pattern is recorded in 90% of the infants. A flow chart was designed to analyze the ABR morphology of preterm infants in an unambiguous stepwise fashion. Conclusions: A typical bow tie pattern preceding peak III seems to be the earliest characteristic of the developing ABR morphology in preterm infants. As ABR characteristics will improve with increasing age, neonatal hearing screening should be postponed until after 34 weeks. Copyright

Risk factors for auditory neuropathy spectrum disorder in NICU infants compared to normal-hearing NICU controls (Article)

2011-04-01T00:00:00Z

Objectives: To evaluate independent etiologic factors associated with auditory neuropathy spectrum disorder (ANSD) in infants who have been admitted to the neonatal intensive care unit (NICU) compared to normal-hearing controls. Study Design: Case-control study. Methods: We included all infants (n = 9) with the ANSD profile admitted to the NICU of Sophia Children's Hospital between 2004 and 2009. Each patient was matched with four normal-hearing controls of the same gender and postconceptional age. The following possible risk factors were studied: birth weight, dysmorphic features, APGAR scores (at 1, 5, and 10 minutes), respiratory distress (IRDS), cytomegalovirus (CMV) infection, sepsis, meningitis, cerebral bleeding, hyperbilirubinemia requiring phototherapy, peak total bilirubin level, furosemide, dexamethason, vancomycin, gentamycin, and tobramycin administration. Results: Nine infants met the ANSD criteria in one or both ears. IRDS (P =.02), meningitis (P =.04), and vancomycin administration (P =.009) were significantly increased in infants with ANSD compared to controls. Conclusions: In high-risk NICU infants IRDS, meningitis and vancomycin administration are associated with auditory neuropathy spectrum disorder.

An initial overestimation of sensorineural hearing loss in NICU infants after failure on neonatal hearing screening (Article)

2011-02-01T00:00:00Z

Objective: Infants admitted to neonatal intensive care units have a higher incidence of significant congenital hearing loss. We classified audiologic diagnoses and follow-up in infants who had been admitted to our neonatal intensive care unit. Methods: We included all infants admitted to the neonatal intensive care unit at Sophia Children's Hospital between 2004 and 2009 who had been referred for auditory brainstem response measurement after failing neonatal hearing screening with automated auditory brainstem response. We retrospectively analyzed the results of auditory brainstem response measurement. Results: Between 2004 and 2009 3316 infants admitted to our neonatal intensive care unit had neonatal hearing screening. 103 infants failed neonatal hearing screening: 46 girls and 57 boys. After first auditory brainstem response measurement we found 18% had normal hearing or a minimal hearing loss. The remainder had a type of hearing loss, distributed as follows: 15% conductive, 32% symmetric sensorineural, 14% asymmetric sensorineural, and 21% absent auditory brainstem responses. Repeated auditory brainstem response measurement showed a shift in hearing outcome. The main difference was an improvement from symmetric sensorineural hearing loss to normal hearing. However, in a small percentage of children, the hearing deteriorated. Conclusions: As many as 58% of infants in this high-risk population who failed the neonatal hearing screening were diagnosed with sensorineural hearing loss or absent auditory brainstem responses. An initial overestimation of sensorineural hearing loss of about 10% was seen at first auditory brainstem response measurement. This may be partially explained by a conductive component that has resolved. Finally, in a small percentage of children the hearing deteriorated.

Hearing loss in Pompe disease revisited: results from a study of 24 children (Article)

2010-10-01T00:00:00Z

Little information is available regarding the auditory function in Pompe patients. Hearing loss has been reported in classic infantile patients, but it is still unknown whether central nervous system involvement interferes with auditory function and whether enzyme replacement therapy can improve hearing. Auditory function has not been studied in children with milder forms of the disease. We analyzed repetitive auditory brainstem response measurements and pure tone audiometry in 24 children with Pompe disease. Only 1 of 13 patients with milder phenotypes showed recurrent conductive hearing loss, while 10 out of 11 classic infantile patients had sensorineural hearing defects. These patients also had a high prevalence of conductive hearing loss. Five patients showed evidence of mild retrocochlear pathology, suggestive of glycogen accumulation in the central nervous system. Hearing loss persisted during therapy in all patients. The results emphasize the need for careful monitoring of auditory function in classic infantile Pompe patients, and for early implementation of hearing aids to protect speech and language development.

Inter-observer reliability of localization of recorded stridor sounds in children (Article)

2010-10-01T00:00:00Z

Objective: To determine the inter-observer reliability in localization of recorded stridor sounds in children. Method: The stridor sounds of 28 children programmed for laryngobronchoscopy were recorded with a high quality digital recorder. Nineteen of these recordings with a diagnosis confirmed by endoscopy, were presented to otorhinolaryngology residents, academic specialists and non-academic consultants (n= 38) in different situations with and without additional information about the subject. The participants were requested to score the sounds as pharyngeal, supraglottic, glottic, subglottic or tracheal in both situations. The scores were analyzed per group of participants, per location of obstruction and per diagnosis in the different situations. Results: The performance of the total group was just above chance level with an average score of 29.6%. The total results improved slightly with the additional information present, although not significantly. No significant difference was found between the three categories of participants. The supraglottic sounds were significantly better differentiated from the other locations in both assessment types (p< 0.001). The tracheal region (p< 0.01) and the supraglottic region (p< 0.05) received significantly higher scores when the additional information was present. Laryngomalacia was significantly better differentiated (p< 0.001) from the other diagnoses. The improvement in assessment with and without additional information present was significant for laryngomalacia (p= 0.002) and tracheomalacia (p< 0.035). Conclusion: The clinical observation of stridor in children shows poor levels of localization. Even though the two most common diagnoses, laryngomalacia and tracheomalacia are localized more correctly, the general performance is not significantly higher than random. No evidence was found in this study for differences in results by the observer's level of experience. We would recommend that an observational policy is only adequate when clear clinical signs are present that indicate laryngomalacia as first differential diagnosis. In other cases rigid and flexible endoscopy is indicated to locate the site and nature of obstruction.

Fitting model of ABR age dependency in a clinical population of normal hearing children (Article)

2010-10-01T00:00:00Z

The purpose of this study was to present a simple and powerful fitting model that describes age-dependent changes of auditory brainstem responses (ABR) in a clinical population of normal hearing children. A total of 175 children (younger than 200 weeks postconceptional age) were referred for audiologic assessment with normal ABR results. ABR parameters of normal hearing children between 2003 and 2008 were included. The results of the right ears recorded at 90 dB nHL were analyzed. A simple and accurate fitting model was formulated based on these data. A very similar age-dependent effect was found for peaks III and V, and I-III and I-V intervals; latencies decrease as postconceptional age increases. It shows that the total age-dependent effect will be completed after 1.5-2 years. The age-dependent effect can be modeled by a relatively simple and accurate exponential function. This fitting model can be easily implemented to analyze ABR results of infants in daily clinical practice. We speculate about the underlying physiological processes.

Long-term functional outcome in 167 patients with syndromic craniosynostosis; Defining a syndrome-specific risk profile (Article)

2010-10-01T00:00:00Z

Objective: Little is known about the long-term prevalence of elevated intracranial pressure (ICP), obstructive sleep apnoea (OSA), level of education, language and motor skills, impaired sight and hearing in craniosynostosis syndromes. The objective of this study was to define the prevalence per syndrome of elevated ICP, OSA, impaired sight and impaired hearing. Methods: A retrospective study was undertaken on 167 consecutive patients diagnosed with Apert, Crouzon, Pfeiffer, Muenke or Saethre-Chotzen syndrome, aged 1-25 years and treated between 1983 and 2008. The mean age at time of referral and review was 1 years and 2 months and 10 years and 3 months, respectively. Results: Patients with Apert and Crouzon/Pfeiffer syndromes had the highest prevalence of elevated ICP (33% and 53%, respectively) and OSA (31% and 27%, respectively), while Saethre-Chotzen syndrome was also associated with a fair risk for elevated ICP (21%). The prevalence of impaired sight (61%) and hearing (56%) was high in all syndromes. Conclusion: Based on these data, a syndrome-specific risk profile with suggestions for screening and treatment is presented.

Risk factors for sensorineural hearing loss in NICU infants compared to normal hearing NICU controls (Article)

2010-09-01T00:00:00Z

Objectives: To evaluate independent etiologic factors associated with sensorineural hearing loss in infants who have been admitted to the neonatal intensive care unit compared to normal hearing controls. Method: Between 2004 and 2009, 3366 infants were admitted to the neonatal intensive care unit of Sophia Children's Hospital, of which 3316 were screened with AABR. A total of 103 infants were referred for auditory brainstem response analysis after failure on neonatal hearing screening. We included all infants diagnosed with sensorineural hearing loss. Each patient was matched with two normal hearing controls from the neonatal intensive care unit of the same gender and postconceptional age. The following risk factors were studied: birth weight, dysmorphic features, APGAR scores (at 1, 5 and 10. min), respiratory distress (IRDS), CMV infection, sepsis, meningitis, cerebral bleeding, cerebral infarction, hyperbilirubinemia requiring phototherapy, peak total bilirubin level, furosemide, dexamethason, vancomycin, gentamycin and tobramycin administration. Results: Fifty-eight infants were diagnosed with sensorineural hearing loss: 26 girls and 32 boys. The incidence of dysmorphic features (P= 0.000), low APGAR score (1. min) (P= 0.01), sepsis (P= 0.003), meningitis (P= 0.013), cerebral bleeding (P= 0.016) and cerebral infarction (P= 0.000) were significantly increased in infants with sensorineural hearing loss compared to normal hearing controls (n= 116). Conclusion: Dysmorphic features, low APGAR scores at 1. min, sepsis, meningitis, cerebral bleeding and cerebral infarction are associated with sensorineural hearing loss independent of neonatal intensive care unit admittance.

Obstructive sleep apnea in children with syndromic craniosynostosis: long-term respiratory outcome of midface advancement (Article)

2010-02-01T00:00:00Z

Almost 50% of patients with Apert, Crouzon or Pfeiffer syndrome develop obstructive sleep apnea (OSA), mainly due to midface hypoplasia. Midface advancement is often the treatment of choice, but the few papers on long-term outcome report mixed results. This paper aimed to assess the long-term respiratory outcome of midface advancement in syndromic craniosynostosis with OSA and to determine factors contributing to its efficacy. A retrospective study was performed on 11 patients with moderate or severe OSA, requiring oxygen, continuous positive airway pressure (CPAP), or tracheostomy. Clinical symptoms, results of polysomnography, endoscopy and digital volume measurement of the upper airways on CT scan before and after midface advancement were reviewed. Midface advancement had a good respiratory outcome in the short term in 6 patients and was ineffective in 5. In all patients without respiratory effect or with relapse, endoscopy showed obstruction of the rhino- or hypopharynx. The volume measurements supported the clinical and endoscopic outcome. Despite midface advancement, long-term dependence on, or indication for, CPAP or tracheostomy was maintained in 5 of 11 patients. Pharyngeal collapse appeared to play a role in OSA. Endoscopy before midface advancement is recommended to identify airway obstruction that may interfere with respiratory improvement after midface advancement.

Incidence and clinical value of prolonged I-V interval in NICU infants after failing neonatal hearing screening (Article)

2010-01-01T00:00:00Z

Infants admitted to neonatal intensive care units (NICUs) have a higher incidence of perinatal complications and delayed maturational processes. Parameters of the auditory brainstem response (ABR) were analyzed to study the prevalence of delayed auditory maturation or neural pathology. The prevalence of prolonged I-V interval as a measure of delayed maturation and the correlation with ABR thresholds were investigated. All infants admitted to the NICU Sophia Children's Hospital between 2004 and 2009 who had been referred for ABR measurement after failing neonatal hearing screening with automated auditory brainstem response (AABR) were included. The ABR parameters were retrospectively analyzed. Between 2004 and 2009, 103 infants were included: 46 girls and 57 boys. In 58.3% (60 infants) of our population, the I-V interval was recordable in at least one ear at first diagnostic ABR measurement. In 4.9%, the I-V interval was severely prolonged. The median ABR threshold of infants with a normal or mildly prolonged I-V interval was 50 dB. The median ABR threshold of infants with a severely prolonged I-V interval was 30 dB. In conclusion, in case both peak I and V were measurable, we found only a limited (4.9%) incidence of severely prolonged I-V interval (≥0.8 ms) in this high-risk NICU population. A mild delay in maturation is a more probable explanation than major audiologic or neural pathology, as ABR thresholds were near normal in these infants.

Obstructive apneas and severe dysphagia in a girl with Townes-Brocks syndrome and atypical feet involvement (Article)

2009-11-01T00:00:00Z

We report a girl with severe manifestations of Townes-Brocks syndrome (TBS) and a previously unreported serious congenital dysphagia. She is unable to swallow her saliva and consequently chokes frequently with desaturations still existing beyond the second year of life. Involvement of the feet was more extensive than is usually seen in TBS. Mutation analysis of the SALL1 gene, responsible for TBS, resulted in the identification of the de novo hot-spot mutation p.Arg276X. This report adds another rare, but serious manifestation to the multiorgan involvement found in TBS.

Evaluation of Hearing Loss after Failed Neonatal Hearing Screening (Article)

2009-11-01T00:00:00Z

Objective: We evaluated the causes of hearing loss found after failed universal newborn hearing screening and compared the results with the previously used behavioral observation test (Ewing/CAPAS). Study design: Hearing loss in neonates, born between September 1999 and October 2007 and referred to our center after failed screening, was determined by audiologic testing and physical examination. Results: In 340 included neonates the results of hearing tests were as follows: normal hearing 21.2%, conductive hearing loss 20.3%, and sensorineural hearing loss (SNHL) 57.9%. Children referred from the neonatal intensive care unit were more at risk of SNHL (71%) than those from the well-baby clinics (54%). Hearing aids were provided at a median age of 8 months. The positive predictive value of SNHL screening was 54% for a child from a well-baby clinic and 71% for a child from the neonatal intensive care unit. Conclusion: The use of universal newborn hearing screening results in a lower proportion of infants positive because of otitis media with effusion than the previously used Ewing/CAPAS test (20% vs 59-81%). Second, screening leads to identification of hearing loss and intervention at a younger age (8 months vs 15-18 months). Third, the positive predictive value for SNHL has improved (54% vs 2%).

Bile acids identified in middle ear effusions of children with otitis media with effusion. (Article)

2009-02-01T00:00:00Z

OBJECTIVES/HYPOTHESIS: Several studies have shown the presence of pepsin in the middle ear effusions of children with otitis media with effusion (OME). When gastric reflux is the cause, other noxious reflux products might be present. We therefore investigated the presence of bile acids in the middle ear effusions of children with OME. STUDY DESIGN: We evaluated 38 children (63 samples of middle ear secretions (ME samples)) in a prospective study at a tertiary care children's hospital. METHODS: ME samples were collected from children with OME during ventilation tube insertion. Most ME samples were diluted with albumin. The presence of bile acids was measured with the 3alpha-hydroxy steroid dehydrogenase enzymatic method. A ME sample was considered positive when it contained at least 5 mumol/l bile acids, independent of dilution. Blood samples were taken simultaneously as a reference to determine bile acids serum levels. RESULTS: We found bile acids in 32 % (20/63) of all ME samples and in 42% (16/38) of all children. Bile acids concentrations of 12 well-soluble ME samples ranged from 5.9-40.9 mumol/L and were 3.1-19.7 times higher than the serum concentrations. In 4 of the corresponding serums, no bile acids were measurable at all. CONCLUSIONS: Bile acids are present in a number of the ME samples of children with OME. Because of dilution, it is possible that more ears contain bile acids. Bile acids are known to be noxious to mucosal cells at a higher (pH) than pepsin and, therefore, might play a role in the pathology of OME.

Airway management and fiberoptic tracheal intubation via the laryngeal mask in a child with Marshall-Smith syndrome (Article)

2008-04-01T00:00:00Z

Sleep-related breathing disorders in prepubertal children with Prader- Willi syndrome and effects of growth hormone treatment. (Article)

2006-12-01T00:00:00Z

CONTEXT: Recently, several cases of sudden death in GH-treated and non-GH-treated, mainly young Prader-Willi syndrome (PWS), patients were reported. GH treatment in PWS results in a remarkable growth response and an improvement of body composition and muscle strength. Data concerning effects on respiratory parameters, are however, limited. OBJECTIVE: The objective of the study was to evaluate effects of GH on respiratory parameters in prepubertal PWS children. DESIGN: Polysomnography was performed before GH in 53 children and repeated after 6 months of GH treatment in 35 of them. PATIENTS: Fifty-three prepubertal PWS children (30 boys), with median (interquartile range) age of 5.4 (2.1-7.2) yr and body mass index of +1.0 sd score (-0.1-1.7). INTERVENTION: Intervention included treatment with GH 1 mg/m2.d. RESULTS: Apnea hypopnea index (AHI) was 5.1 per hour (2.8-8.7) (normal 0-1 per hour). Of these, 2.8 per hour (1.5-5.4) were central apneas and the rest mainly hypopneas. Duration of apneas was 15.0 sec (13.0-28.0). AHI did not correlate with age and body mass index, but central apneas decreased with age (r = -0.34, P = 0.01). During 6 months of GH treatment, AHI did not significantly change from 4.8 (2.6-7.9) at baseline to 4.0 (2.7-6.2; P = 0.36). One patient died unexpectedly during a mild upper respiratory tract infection, although he had a nearly normal polysomnography. CONCLUSIONS: PWS children have a high AHI, mainly due to central apneas. Six months of GH treatment does not aggravate the sleep-related breathing disorders in young PWS children. Our study also shows that monitoring during upper respiratory tract infection in PWS children should be considered.

Differences in nasal cellular infiltrates between allergic children and age-matched controls (Article)

1999-01-01T00:00:00Z

Little is known about the cellular infiltrates in the nasal mucosa of children. This study was set up to compare the nasal cellular infiltrates in biopsy specimens from allergic children and controls. Atopic children were distinguished from controls on the basis of symptoms of allergic rhinitis and/or asthma, total serum immunoglobulin (Ig)E, family history and specific serum IgE to food and aeroallergens. Fifteen allergic patients (median age 4.3 yrs) and 15 age-matched nonallergic control subjects were evaluated. The number of cells positive for CD1a, CD4, CD8, CD19, CD68, chymase, tryptase, IgE and major basic protein was determined in the mucosa of the inferior turbinate. A significantly higher number of IgE-positive cells and mast cells was found in the epithelia of the allergic group. In the lamina propria, higher numbers of IgE-positive cells and eosinophils were found. Langerhans' cells positive for IgE were only seen in allergic children with specific serum IgE against aeroallergens. These children also had a higher number of IgE-positive mast cells compared to controls and atopic children without specific serum IgE. These results show that the nasal cellular infiltrates of allergic children differ from nonallergic control subjects. Prior to the detection of specific serum immunoglobulin E, cellular changes can be found in the nasal mucosa of atopic children.

Obstruction in the Pedriatic Airway: diagnostic and therapeutic aspects (Doctoral Thesis)

1995-06-22T00:00:00Z

Pediatric Laryngology in a referral hospital for children such as the Sophia Children's Hospital is to a large extent concerned with patients suffering from airway obstruction, most of whom, owing to the nature of the disorder, are treated in an Intensive Care Unit (lCU). The otorhinolaryngologist, in close cooperation with ICU-pediatricians, is confronted with a great variety of airway pathology: intubation or tracheotomy related problems, post-intubation injury, cicatricial laryngeal stenosis, congenital laryngeal stenosis, subglottic hemangioma, choanal atresia, pharyngeal obstruction, epiglottitis, subglottic laryngitis, tracheomalacia, etc. Laryngobronchoscopy (LBS) is the most important tool in the diagnosis of such disorders in children.