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

Objectives: The EUSCREEN study compares the cost-effectiveness of paediatric hearing screening programmes and aims to develop a cost-effectiveness model for this purpose. Alongside and informed by the development of the model, neonatal hearing screening (NHS) is implemented in Albania. We report on the first year.

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

Objectives: The Reflux Finding Score for Infants (RFS-I) was developed to assess signs of laryngopharyngeal reflux (LPR) in infants. With flexible laryngoscopy, moderate inter- and highly variable intraobserver reliability was found. We hypothesized that the use of rigid laryngoscopy would increase reliability and therefore evaluated the reliability of the RFS-I for flexible versus rigid laryngoscopy in infants.

Robin sequence: A European survey on current practice patterns.

To provide an overview of current practice patterns with regard to Robin sequence (RS) patients in Europe, a survey was conducted among European clinicians. This online survey consisted of different sections assessing characteristics of the respondent and clinic, definition, diagnosis, treatment, and follow-up. In total, surveys from 101 different European clinics were included in the analysis, and 56 different RS definitions were returned.

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

We report on a family with a not earlier described multiple congenital malformation. Several male family members suffer from laryngeal obstruction caused by bilateral vocal cord paralysis, outer and middle ear deformity with conductive and sensorineural hearing loss, facial dysmorphisms, and underdeveloped shoulder musculature. The affected female members only have middle ear deformity and hearing loss.

Inventory of current EU paediatric vision and hearing screening programmes.

Objective: To examine the diversity in paediatric vision and hearing screening programmes in Europe.

Methods: Themes for comparison of screening programmes derived from literature were used to compile three questionnaires on vision, hearing, and public health screening. Tests used, professions involved, age, and frequency of testing seem to influence sensitivity, specificity, and costs most.

Unravelling Robin sequence: considerations of diagnosis and treatment.

Objectives/hypothesis: The airway management of children with Robin sequence is controversial. This study provides an overview of a single-center experience with the diagnosis and treatment of 59 children with Robin sequence.

Study Design: Retrospective cohort study.

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

Objective: To describe the course of obstructive sleep apnoea syndrome (OSAS) in children with syndromic craniosynostosis.

Design: Prospective cohort study.

Setting: Dutch Craniofacial Centre from January 2007 to January 2012.

Screening for obstructive sleep apnea in Treacher-Collins syndrome.

Objectives/hypothesis: This study evaluated the accuracy of established obstructive sleep apnea syndrome (OSAS) questionnaires based on presenting symptoms and complaints as screening tools for OSAS in Treacher-Collins syndrome (TCS).

Study Design: Cross-sectional cohort study.

Methods: In 35 TCS patients (13 children, 22 adults) in whom diagnostic polysomnographic results on OSAS were available, the Brouillette score was evaluated in children and the Epworth Sleepiness Scale in adults.

Auditory brainstem response morphology and analysis in very preterm neonatal intensive care unit infants.

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.

Inter-observer reliability of localization of recorded stridor sounds in children.

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.

Hearing loss in Pompe disease revisited: results from a study of 24 children.

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.

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

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.

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

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.

Agenesis of the trachea: phenotypic expression of a rare cause of fatal neonatal respiratory insufficiency in six patients.

Tracheal agenesis is a rare congenital malformation, which is usually fatal in the newborn period. Its incidence is approximately 1 in 50,000 births. Presentation is with respiratory insufficiency and no audible cry.

Hearing loss in infantile Pompe's disease and determination of underlying pathology in the knockout mouse.

Hearing deficit occurs in several lysosomal storage disorders but has so far not been recognized as a symptom of Pompe's disease (glycogen storage disease type II). We discovered quite unexpectedly 30-90 dB hearing loss in four infants with Pompe's disease, who participated in a study on the safety and efficacy of enzyme replacement therapy. Three other patients with juvenile Pompe's disease did not have this symptom.