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Objectives: The prevalence of newborn hearing disorders is 1-3 per 1,000. Crucial for later outcome are correct diagnosis and effective treatment as soon as possible. With BERA and TEOAE low-risk techniques for early detection are available. Universal screening is recommended but not realised in most European health care systems.Aim of the study was to examine the scientific evidence of newborn hearing screening and a comparison of medical outcome and costs of different programmes, differentiated by type of strategy (risk screening, universal screening, no systematical screening). Methods: In an interdisciplinary health technology assessment project all studies on newborn hearing screening detected in a standardized comprehensive literature search were identified and data on medical outcome, costs, and cost-effectiveness extracted. A Markov model was designed to calculate cost-effectiveness ratios. Results: Economic data were extracted from 20 relevant publications out of 39 publications found. In the model total costs for screening of 100,000 newborns with a time horizon of ten years were calculated: 2.0 Mio.€ for universal screening (U), 1.0 Mio.€ for risk screening (R), and 0.6 Mio.€ for no screening (N). The costs per child detected: 13,395€ (U) respectively 6,715€ (R), and 4,125€ (N). At 6 months of life the following percentages of cases are detected: U 72%, R 43%, N 13%. Conclusions: A remarkable small number of economic publications mainly of low methodological quality was found. In our own model we found reasonable cost-effectiveness ratios also for universal screening. Considering the outcome advantages of higher numbers of detected cases a universal newborn hearing screening is recommended.

Objectives: The prevalence of newborn hearing disorders is 1-3 per 1,000. Crucial for later outcome are correct diagnosis and effective treatment as soon as possible. With BERA and TEOAE low-risk techniques for early detection are available. Universal screening is recommended but not realised in most European health care systems. Aim of the study was to examine the scientific evidence of newborn hearing screening and a comparison of medical outcome and costs of different programmes, differentiated by type of strategy (risk screening, universal screening, no systematical screening). Methods: In an interdisciplinary health technology assessment project all studies on newborn hearing screening detected in a standardized comprehensive literature search were identified and data on medical outcome, costs, and cost-effectiveness extracted. A Markov model was designed to calculate cost-effectiveness ratios. Results: Economic data were extracted from 20 relevant publications out of 39 publications found. In the model total costs for screening of 100,000 newborns with a time horizon of ten years were calculated: 2.0 Mio.€ for universal screening (U), 1.0 Mio.€ for risk screening (R), and 0.6 Mio.€ for no screening (N). The costs per child detected: 13,395€ (U) respectively 6,715€ (R), and 4,125€ (N). At 6 months of life the following percentages of cases are detected: U 72%, R 43%, N 13%. Conclusions: A remarkable small number of economic publications mainly of low methodological quality was found. In our own model we found reasonable cost-effectiveness ratios also for universal screening. Considering the outcome advantages of higher numbers of detected cases a universal newborn hearing screening is recommended.

Here, we describe four patients suffering from a rather broad spectrum of epilepsy-related disorders, ranging from developmental and epileptic encephalopathy with intellectual disability (DEE) to genetic generalized epilepsy (GGE), which all harbor novel KCNH1 mutations. In one family, we found a weak association of a novel nonsense mutation with epilepsy, suggesting reduced penetrance, and which shows, in agreement with previous findings, that gain-of-function effects rather than haploinsufficiency are important for the pathogenicity of mutations. De novo missense variants in the pore region of the channel result in severe phenotypes presenting usually with DEE with various malformations. The potential pathogenicity of a novel KCNH1 germline mutation located outside of the critical pore domain observed in a GGE patient with a milder phenotype is supported by the fact that the very same amino acid exchange was detected as a somatic mutation in the resected brain tissue of a patient suffering from a focal cortical dysplasia type IIb. Thus, our case series broadens the phenotypic spectrum of KCNH1-associated diseases. [ABSTRACT FROM AUTHOR]

Abstract: Objective: To examine prospectively the relationship between prenatal life stress and infant crying/fussing during the first 6 months of postnatal life, taking into account an array of confounders suggested in the literature. Design: Prospective longitudinal study of a convenient sample, with data points in pregnancy and at about 6 weeks, 3, and 6 months postpartum. Methods: The study included 86 pregnant women who completed a standardized, validated and widely used questionnaire on negative life changes experienced in the preceding 12 months. Women were grouped by median split on the impact score of negative life changes. Demographic, obstetric and lifestyle variables were obtained from pre- and postnatal interviews and from medical records in order to be taken into account as possible confounders. At all three postnatal data points, mothers kept a validated 5-day 24-h behavior diary to assess durations of infant crying/fussing. Results: Infants of mothers with high scores of negative life changes exhibited more crying/fussing than infants born to mothers with low negative change scores, throughout the first half year postpartum, but particularly at ages 3 and 6 months. These results do not seem to be spurious due to the confounders considered in this report or to recording bias. Conclusion: Prenatal life stress is associated with infant crying/fussing in the first half year after delivery. To prevent or reduce infant crying and to foster a well-adapted parent–infant relationship, professionals attending expectant mothers should consider their emotional condition. If required, support should be provided already in pregnancy. [Copyright &y& Elsevier]

Introduction: Permanent congenital bilateral hearing loss (CHL) of moderate or greater degree (≥40 dB HL) is a rare disease, with a prevalence of about 1 to 3 per 1000 births. However, it is one of the most frequent congenital diseases. Reliance on physician observation and parental recognition has not been successful in the past in detecting significant hearing loss in the first year of life. With this strategy significant hearing losses have been detected in the second year of life. With two objective technologies based on physiologic response to sound, otoacoustic emissions (OAE) and auditory brainstem response (ABR) hearing screening in the first days of life is made possible., Objectives: The objective of this health technology assessment report is to update the evaluation on clinical effectiveness and cost-effectiveness of newborn hearing screening programs. Universal newborn hearing screening (UHNS) (i), selective screening of high risk newborns (ii), and the absence of a systematic screening program are compared for age at identification and age at hearing aid fitting of children with hearing loss. Secondly the potential benefits of early intervention are analysed. Costs and cost-effectiveness of newborn hearing screening programs are determined. This report is intended to make a contribution to the decision making whether and under which conditions a newborn hearing screening program should be reimbursed by the statutory sickness funds in Germany., Methods: This health technology assessment report updates a former health technology assessment (Kunze et al. 2004 [1]). A systematic review of the literature was conducted, based on a documented search and selection of the literature using predefined inclusion and exclusion criteria and a documented extraction and appraisal of the included studies. To assess the cost-effectiveness of the different screening strategies in Germany the decision analytic Markov state model which had been developed in our former health technology assessment report was updated., Results: Universal newborn hearing screening programs are able to substantially reduce the age at identification and the age at intervention of children with CHL to six months of age in the German health care setting. High coverage rates, low fail rates and - if tracking systems are implemented - high follow-up-rates to diagnostic evaluation for test positives were achieved. New publications on potential benefits of early intervention could not be retrieved. For a final assessment of cost-effectiveness of newborn hearing screening evidence based long-term data are lacking. Decision analytic models with lifelong time horizon assuming that early detection results in improved language abilities and lower educational costs and higher life time productivity showed a potential of UNHS for long term cost savings compared to selective screening and no screening. For the short-term cost-effectiveness with a time horizon up to diagnostic evaluation more evidence based data are available. The average costs per case diagnosed range from 16,000 EURO to 33,600 EURO in Germany and hence are comparable to the cost of other implemented newborn screening programs. Empirical data for cost of selective screening in the German health care setting are lacking. Our decision analytic model shows that selective screening is more cost-effective but detects only 50% of all cases of congenital hearing loss., Discussion: There is good evidence that UNHS-Programs with appropriate quality management can reduce the age at start of intervention below six months. Up to now there is no indication of considerable negative consequences of screening for children with false positive test results and their parents. However, it is more difficult to prove the efficacy of early intervention to improve long-term outcomes. Randomized clinical trials of the efficacy of early intervention for children with CHL hearing losses are inappropriate because of ethical reasons. Prospective cohort studies with long-term outcomes of rare diseases are costly, take a long time and simultaneously substantial benefits of early intervention for language development seem likely., Conclusions: A UNHS-Program should be implemented in Germany and be reimbursed by the statutory sickness funds. To achieve high coverage and because of better conditions for obtaining low false positive rates UNHS should be performed in hospital after birth. For outpatient deliveries additionally screening measures in an outpatient setting must be provided.

Objectives: The prevalence of newborn hearing disorders is 1-3 per 1,000. Crucial for later outcome are correct diagnosis and effective treatment as soon as possible. With BERA and TEOAE low-risk techniques for early detection are available. Universal screening is recommended but not realised in most European health care systems. Aim of the study was to examine the scientific evidence of newborn hearing screening and a comparison of medical outcome and costs of different programmes, differentiated by type of strategy (risk screening, universal screening, no systematical screening)., Methods: In an interdisciplinary health technology assessment project all studies on newborn hearing screening detected in a standardized comprehensive literature search were identified and data on medical outcome, costs, and cost-effectiveness extracted. A Markov model was designed to calculate cost-effectiveness ratios., Results: Economic data were extracted from 20 relevant publications out of 39 publications found. In the model total costs for screening of 100,000 newborns with a time horizon of ten years were calculated: 2.0 Mio.euro for universal screening (U), 1.0 Mio.euro for risk screening (R), and 0.6 Mio.euro for no screening (N). The costs per child detected: 13,395 euro (U) respectively 6,715 euro (R), and 4,125 euro (N). At 6 months of life the following percentages of cases are detected: U 72%, R 43%, N 13%., Conclusions: A remarkable small number of economic publications mainly of low methodological quality was found. In our own model we found reasonable cost-effectiveness ratios also for universal screening. Considering the outcome advantages of higher numbers of detected cases a universal newborn hearing screening is recommended.