National study of newborn hearing screening: programme sensitivity and characteristics of undetected children.

UNLABELLED: The success of universal newborn hearing screening (UNHS) programmes is usually evaluated by determining the effect of the early detection of hearing loss on developmental outcome. However, in practice, these programmes do not detect all children with permanent childhood hearing impairment. In this study we determine the sensitivity of the current UNHS programme and analyse the characteristics of the children not detected by UNHS. We performed a nationwide, population-based, retrospective follow-up study in The Netherlands. All children born in 2003-05 and screened in a hearing screening programme (well babies and neonatal intensive care (NICU) graduates) were included for study. The main outcome measure was the sensitivity of the UNHS programme (based on the proportion of children known to have a permanent childhood hearing impairment in 2008 who were identified by UNHS). We also evaluated age at diagnosis, severity, and aetiology of hearing impairment in the children not detected by UNHS. We found that the sensitivity of the current UNHS programme was 0.83 (0.79 for well babies and 0.96 for NICU graduates). Permanent childhood hearing impairment was confirmed before 36 months of age in 96% of the study cohort. Of the children unidentified by the UNHS, > 50% had moderate hearing loss. No predominant cause of hearing impairment was found in these children. CONCLUSION: Our current UNHS programme identified the majority of children with a permanent hearing impairment of congenital cause.

Auditory neuropathy in a low-risk population: a review of the literature.

OBJECTIVE: Collect all available published evidence on the prevalence of auditory neuropathy in the well baby population and calculate the contribution of this to the false negative rate of oto-acoustic emission based newborn hearing screening programs. METHOD: PubMed and EMBASE were searched for relevant articles published between 1996 and 2010. Medical Subject Headings terms included 'Auditory disease', 'Prevalence' and 'Child' and their relevant synonyms. Included were original studies, which focused on well babies and reported the prevalence of auditory neuropathy. RESULTS: Of 519 citations 4 articles met the inclusion criteria. The population based prevalence of auditory neuropathy in children in population hearing screening was found to vary between 0.006% (SD 0.006) and 0.03% (SD 0.02). The false negative rate, caused by missed children with auditory neuropathy, is between 4 and 17%. CONCLUSION: The available information on the prevalence of auditory neuropathy in the well baby population is poor. However, if oto-acoustic emission screening is used in the first stage of a neonatal hearing screening program, children with auditory neuropathy are missed. The cost-effectiveness of population-based screening using auditory brainstem response should be studied.

Awareness of congenital cytomegalovirus among doctors in the Netherlands.

BACKGROUND: Because of limited treatment options for congenital cytomegalovirus (CMV) infection, preventive strategies are important. Knowledge and awareness are essential for the success of preventive strategies. OBJECTIVES: To investigate the knowledge of congenital CMV among doctors involved in mother and child care in the Netherlands. STUDY DESIGN: A questionnaire on CMV infection was sent to doctors by snowball sampling. Knowledge concerning epidemiology, transmission, symptoms and signs of CMV infection in adults and children, and treatment options were evaluated. RESULTS: The questionnaire was completed by 246 doctors involved in mother and child care. The respondents estimated a prevalence of congenital CMV varying between 0.1 and 500 per 1000 live-born infants. The mean knowledge scores regarding transmission and postnatal symptoms increased with a more advanced career stage (i.e. older age). Gender and parenthood did not contribute to knowledge, but the field of expertise did. Respondents in the field of pediatrics had the highest mean score on postnatal symptoms and long-term effects. Respondents working in the field of gynecology and obstetrics were unaware of the precise transmission route of CMV. More than one-third of the respondents assumed that treatment was readily available for congenital CMV infection. CONCLUSIONS: The knowledge of CMV infection among doctors in the Netherlands contained several gaps. Increasing knowledge and awareness is expected to enhance the prevention of transmission, to improve recognition, and to stimulate diagnostic investigations and follow-up programs.

DECIBEL study: Congenital cytomegalovirus infection in young children with permanent bilateral hearing impairment in the Netherlands.

BACKGROUND: A significant number of asymptomatic newborns infected with congenital cytomegalovirus (CMV) will present with permanent childhood hearing impairment (PCHI) during early childhood. OBJECTIVES: To investigate the role of congenital CMV infection in causing PCHI in the Netherlands, and assess the efficacy of two different hearing screening strategies and the developmental outcome following each strategy. STUDY DESIGN: We included 192 children with PCHI at the age of 3-5 years, who were offered hearing screening in their first year of life. Dried blood spots from 171 children were available for CMV detection using real-time PCR. The results of eight previously tested samples were also available. Clinical baseline characteristics were collected from medical records and the Child Development Inventory was used to investigate the developmental outcome. RESULTS: The rate of congenital CMV among the 179 children was 8% (14/179) and 23% (9/39) among children with profound PCHI. Two of eight CMV-positive children with PCHI at the age of 3-5 years had passed the newborn hearing screening (NHS) test. Developmental outcome measures showed a significantly greater delay in language comprehension in children with both PCHI and congenital CMV infection (the largest in symptomatic children) than in the children with PCHI without congenital CMV infection. CONCLUSIONS: Congenital CMV infection is important in the etiology of PCHI. Universal NHS is not a guarantee of normal hearing and development in childhood for children with congenital CMV infection. This is a problem which might be solved by universal congenital CMV screening.

[Permanent hearing loss in the prelingual phase in children with a non-aberrant neonatal hearing screening result]. / Permanent gehoorverlies in de prelinguale fase bij kinderen met een niet-afwijkende uitslag bij neonatale gehoorscreening.

--Neonatal hearing screening is fully implemented in the Netherlands since June 2006 using otoacoustic emissions (OAE) and automated auditory brainstem response (AABR) technology. --A normal neonatal hearing screening result unfortunately does not guarantee childhood normal hearing. Hearing loss may not become manifest until after the neonatal period. --Hearing loss at a later stage may be classified in three categories: (a) delayed onset hearing loss which occurs when the cause of the hearing loss is present at birth but the hearing loss itself becomes detectable at a later stage; (b) progressive hearing loss in which a very slight hearing loss may be present at birth but is not yet detectable and the hearing loss becomes progressively more severe; and (c) acquired hearing loss that results from a number of external factors, such as meningitis, ototoxic drugs, neonatal hyperbilirubinaemia necessitating an exchange transfusion, and trauma. --Neonatal hearing screening can result in detection of moderate to profound permanent hearing loss at an early age when therapeutic options may have maximum effect. However, even after this period, constant vigilance is necessary to detect permanent hearing loss in young children, especially during the prelingual period.

Pentalogy of Cantrell : successful early correction.

The pentalogy of Cantrell is a rare midline developmental field complex often with a dismal outcome. We present a newborn qualifying for Cantrell's pentalogy with an abdominal wall defect, a diaphragmatic defect and a heart defect, a ventricular septal defect (VSD) and a left ventricular diverticulum. Early operative correction following accurate diagnostic work-up was prompted at the age of 11 weeks because of progressive heart failure. Beside correction of the VSD and the abdominal and diaphragmatic defects, resection of the distal part of the diverticulum was possible without damage to the LAD and preserving good contractility. Two years postoperative follow-up is uneventful.

[Serious complications of umbilical venous catheterisation]. / Ernstige complicaties van een navelvenelijn.

Three male newborns, born at 30 weeks, 36 weeks and at term, respectively, developed serious complications related to umbilical venous catheters. The first patient had persistent bacteraemia due to a cardiac thrombus. He recovered after treatment. In the second patient, the umbilical venous catheter was placed in the pericardial sac, causing accumulation of parenteral nutrition and fatal cardiac tamponade. In the third patient, the umbilical catheter was positioned in the liver, leading to extravasation of parenteral nutrition in the liver and peritoneal cavity. At follow-up, he had developed an atrial septum defect, hypotonia and developmental retardation. Umbilical venous catheterisation has been used in neonatal intensive care units for more than 50 years to allow continuous infusion of medication, fluids and nutrition. However, the use of umbilical venous catheters can be associated with severe infectious, thrombotic and traumatic complications. Therefore, umbilical venous catheterisation requires a critical assessment of the need, alternatives and possible complications.

[Diagnostic image (329). A girl with haemorrhagic bullae]. / Diagnose in beeld (329). Een meisje met hemorragische bullae.

In a 10-year-old girl diffuse purpura and bullous lesions were observed as manifestations of Henoch Schönlein purpura.