Increased Prevalence of Fractures in Congenital Adrenal Hyperplasia: A Swedish Population-based National Cohort Study.

CONTEXT: Low bone mineral density has been reported in individuals with congenital adrenal hyperplasia (CAH), but the prevalence of fractures is unclear. OBJECTIVE: To study the prevalence of fractures in CAH. DESIGN, SETTING, AND PARTICIPANTS: Patients with CAH (n = 714, all 21-hydroxylase deficiency) were compared with controls matched for sex and year and place of birth (n = 71 400). Data were derived by linking National Population-Based Registers. MAIN OUTCOME MEASURES: Number and type of fractures. RESULTS: Mean age was 29.8 ±â€…18.4 years. Individuals with CAH had more fractures compared to controls [23.5% vs 16.1%, odds ratio (OR) 1.61, 95% CI 1.35-1.91], and this was found in both sexes (females: 19.6% vs 13.3%, OR 1.57, 95% CI 1.23-2.02; males: 28.7% vs 19.6%, OR 1.65, 95% CI 1.29-2.12). Fractures were significantly increased in patients born before the introduction of neonatal screening but not in those born afterwards. Any major fracture associated with osteoporosis (spine, forearm, hip, or shoulder) was increased in all individuals with CAH (9.8% vs 7.5%, OR 1.34, 95% CI 1.05-1.72). The highest prevalence of fractures was seen in SV phenotype and I172N genotype while nonclassic phenotype and I2 splice genotype did not show increased prevalence. A transport accident as a car occupant and fall on the same level were more common in patients with CAH, both sexes, than in controls. CONCLUSIONS: Patients with CAH had an increased prevalence of both any fracture and fractures associated with osteoporosis (both sexes) but not for patients neonatally screened. We conclude that fracture risk assessment and glucocorticoid optimization should be performed regularly.

Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey.

Many countries do not have a newborn screening (NBS) program, and immigrants from such countries are at risk for late diagnosis of phenylketonuria (PKU). In this international survey, 52 of 259 patients (20%) with late diagnosed PKU were immigrants, and 145 of the 259 (55%) were born before NBS or in a location without NBS.

The Saga of Pulse Oximetry Screening for Critical Congenital Heart Disease in Israel: A Historical Perspective.

BACKGROUND: Many countries have adopted a mandatory routine pulse oximetry screening of newborn infants to identify babies with otherwise asymptomatic critical congenital heart disease (CCHD). OBJECTIVES: To describe the current status of pulse oximetry CCHD screening in Israel, with a special emphasis on the experience of the Shaare Zedek Medical Center. METHODS: We review the difficulties of the Israeli Medical system with adopting the SaO2 screening, and the preliminary results of the screening at the Shaare Zedek Medical Center, both in terms of protocol compliance and CCHD detection. RESULTS: Large scale protocol cannot be implemented in one day, and regular quality assessment programs must take place in order to improve protocol compliance and identify the reasons for protocol failures. CONCLUSIONS: Quality control reviews should be conducted soon after implementation of the screening to allow for prompt diagnosis and quick resolution.

Outreach to new mothers through direct mail and email: recruitment in the Early Check research study.

Meeting recruitment targets for clinical trials and health research studies is a notable challenge. Unsuccessful efforts to recruit participants from traditionally underserved populations can limit who benefits from scientific discovery, thus perpetuating inequities in health outcomes and access to care. In this study, we evaluated direct mail and email outreach campaigns designed to recruit women who gave birth in North Carolina for a statewide research study offering expanded newborn screening for a panel of rare health conditions. Of the 54,887 women who gave birth in North Carolina from September 28, 2018, through March 19, 2019, and were eligible to be included on the study's contact lists, we had access to a mailing address for 97.9% and an email address for 6.3%. Rural women were less likely to have sufficient contact information available, but this amounted to less than a one percentage point difference by urbanicity. Native American women were less likely to have an email address on record; however, we did not find a similar disparity when recruitment using direct-mail letters and postcards was concerned. Although we sent letters and emails in roughly equal proportion by urbanicity and race/ethnicity, we found significant differences in enrollment across demographic subgroups. Controlling for race/ethnicity and urbanicity, we found that direct-mail letters and emails were effective recruitment methods. The enrollment rate among women who were sent a recruitment letter was 4.1%, and this rate increased to 5.0% among women who were also sent an email invitation. Study Highlights WHAT IS THE CURRENT KNOWLEDGE ON THE TOPIC? Under-representation by traditionally underserved populations in clinical trials and health research is a challenge that may in part reflect inequitable opportunities to participate. WHAT QUESTION DID THIS STUDY ADDRESS? Are direct-mail and email outreach strategies effective for reaching and recruiting women from traditionally underserved and rural populations to participate in large-scale, population-based research? WHAT DOES THIS STUDY ADD TO OUR KNOWLEDGE? Despite sending recruitment letters and email invitations in roughly equal proportion by urbanicity and race/ethnicity, women living in rural areas were less likely to enroll (2.8%) than women from urban areas (4.2%). Additionally, enrollment rates decreased as the probability that women were members of a racial or ethnic minority group increased. HOW MIGHT THIS CHANGE CLINICAL PHARMACOLOGY OR TRANSLATIONAL SCIENCE? Results from this study might encourage researchers to take a holistic and participant-centered view of barriers to study enrollment that may disproportionately affect underserved communities, including differences in willingness to participate, trust, and access to resources needed for uptake.

Video-call based newborn triage system for local birth centres can be established without major instalment costs using commercially available smartphones.

Neonates often develop transition problems after low-risk birth, precise assessment of which is difficult at primary birth centres. The aim of this study was to assess whether a video triage system can be established without a specially designed communication system between local birth centres and a tertiary neonatal intensive care unit in a region with a population of 700,000. 761 neonates who were referred to a tertiary neonatal intensive care unit were examined. During period 1 (April 2011-August 2015), only a voice call was available for consultations, whereas, during period 2 (September 2015-December 2017), a video call was additionally available. The respiratory condition was assessed based on an established visual assessment tool. A video consultation system was established by connecting personal smartphones at local birth centres with a host computer at a tertiary neonatal intensive care centre. During period 2, video-based triage was performed for 42.4% of 236 consultations at 30 birth centres. Sensitivity and specificity for predicting newborns with critical respiratory dysfunction changed from 0.758 to 0.898 and 0.684 to 0.661, respectively. A video consultation system for ill neonates was established without major instalment costs. Our strategy might improve the transportation system in both high- and low-resource settings.

Early access to biological neonatal screening: coordination among child care action programs.

OBJECTIVE: To verify factors associated with early newborn access to biological neonatal screening. METHOD: A cross-sectional quantitative study was carried out with all newborns who underwent tests in healthcare units, hospitals, and laboratories of a city in the state of São Paulo, Brazil, with programs linking healthcare information. The following variables were investigated: child's age at collection (dependent); place of collection; date of collection; and type of user (independent). Descriptive and inferential statistics were applied. RESULTS: Records of 15,652 screenings were found in the two years analyzed. In the first year analyzed, 7,955 births and 7,640 (96.0%) tests were recorded, of which 5,586 (73.1%) were undertaken with newborns between three and five days old. In the next year analyzed, 8,316 births and 8,012 (96.3%) screenings were recorded, of which 7,025 (87.6%) were undertaken with newborns in the same age group. A statistically significant association was found between the variables "child's age" and "type of user" in one year, and between the variables "child's age" and "place of collection" in both years. CONCLUSION: Early access to these tests enables the screening of diseases and referral for treatment. The present study contributes to the management of child care programs by presenting strategies linking data and actions to improve access to biological neonatal screening.

Retinopathy of prematurity prevention, screening and treatment programmes: Progress in South America.

Retinopathy of prematurity (ROP) is the main cause of blindness and visual impairment in Latin America and prevention, detection and treatment have been a priority in the Region in the last two decades. There is progress in the number of eligible babies screened and treated in at least half of the countries with strong regulations on ROP, but screening is not yet available in all provinces in most. More effort is needed to increase national protocols and legislation, strengthening of services and human resources to cover all national provinces; telemedicine might be a promising strategy.

Imaging in Retinopathy of Prematurity.

Retinopathy of prematurity (ROP) is a leading cause of preventable childhood blindness worldwide. Barriers to ROP screening and difficulties with subsequent evaluation and management include poor access to care, lack of physicians trained in ROP, and issues with objective documentation. Digital retinal imaging can help address these barriers and improve our knowledge of the pathophysiology of the disease. Advancements in technology have led to new, non-mydriatic and mydriatic cameras with wider fields of view as well as devices that can simultaneously incorporate fluorescein angiography, optical coherence tomography (OCT), and OCT angiography. Image analysis in ROP is also being employed through smartphones and computer-based software. Telemedicine programs in the United States and worldwide have utilized imaging to extend ROP screening to infants in remote areas and have shown that digital retinal imaging can be reliable, accurate, and cost-effective. In addition, tele-education programs are also using digital retinal images to increase the number of healthcare providers trained in ROP. Although indirect ophthalmoscopy is still an important skill for screening, digital retinal imaging holds promise for more widespread screening and management of ROP.

Public health system integration of avoidable blindness screening and management, India.

In India, 73 million people have diabetes and 3.5 million infants are born preterm. Without timely screening, there is a risk of visual loss due to diabetic retinopathy and retinopathy of prematurity in these two groups, respectively. Both conditions are emerging causes of visual impairment in India but there is no public health programme for screening or management. Pilot projects were initiated in 2014 to integrate the screening and management of these conditions into existing public health systems, particularly in rural communities and their referral networks. The World Health Organization's health systems framework was used to develop the projects and strategies were developed with all stakeholders, including the government. Both projects involved hub-and-spoke models of care units around medical schools. For diabetic retinopathy, screening was established at primary health-care facilities and treatment was provided at district hospitals. For retinopathy of prematurity, screening was integrated into sick newborn care units at the district level and treatment facilities were improved at the closest publically funded medical schools. In the first two years, there were substantial improvements in awareness, screening, treatment and partnership between stakeholders, and changes in public health policy. By March 2018, diabetic retinopathy screening was established at 50 facilities in 10 states and treatment had been improved at 10 hospitals, whereas retinopathy of prematurity screening was established at 16 sick newborn care units in district hospital in four states and treatment had been improved at six medical schools. Advocacy within state governments was critical to the success of the initiative.

En Inde, 73 millions de personnes sont atteintes de diabète et 3,5 millions de nourrissons naissent avant terme. Lorsque le dépistage n'est pas effectué à temps, il existe un risque de perte de la vue due à la rétinopathie diabétique dans le cas du premier groupe et à la rétinopathie du prématuré dans le cas du second. Bien que ces deux maladies soient de nouvelles causes de déficience visuelle en Inde, aucun programme de santé publique ne vise leur dépistage ou leur prise en charge. Des projets pilotes ont été lancés en 2014 pour intégrer le dépistage et la prise en charge de ces maladies dans les systèmes de santé publique existants, en particulier dans les communautés rurales et leurs réseaux d'orientation. Le cadre des systèmes de santé de l'Organisation mondiale de la Santé a été utilisé pour développer ces projets et des stratégies ont été élaborées avec toutes les parties prenantes, et notamment le gouvernement. Les deux projets impliquaient des réseaux en étoile d'unités de soins autour des écoles de médecine. Dans le cas de la rétinopathie diabétique, le dépistage a été assuré dans des établissements de soins de santé primaires, tandis que le traitement a été appliqué dans des hôpitaux de district. Dans le cas de la rétinopathie du prématuré, le dépistage a été intégré dans des unités de soins pour les pathologies néo-natales au niveau des districts et les installations de traitement ont été améliorées dans les écoles de médecine financées par l'État les plus proches. Au cours des deux premières années, des améliorations considérables ont été constatées en matière de sensibilisation, de dépistage, de traitement et de partenariat entre les parties prenantes, et des changements ont été apportés à la politique de santé publique. En mars 2018, le dépistage de la rétinopathie diabétique était assuré dans 50 établissements répartis dans 10 États et le traitement avait été amélioré dans 10 hôpitaux, tandis que le dépistage de la rétinopathie du prématuré était assuré dans 16 unités de soins pour les pathologies néo-natales dans les hôpitaux de district de quatre États et le traitement avait été amélioré dans six écoles de médecine. Un soutien au sein des administrations des États fédérés a été essentiel au succès de l'initiative.

En la India, 73 millones de personas son diabéticas y 3,5 millones de niños nacen prematuros. Sin exámenes de detección oportunos, existe un riesgo de pérdida de la visión por la retinopatía diabética y la retinopatía por prematuridad en estos dos grupos, respectivamente. Ambas afecciones son causas emergentes de discapacidad visual en la India, pero no existe un programa de salud pública para la detección o el tratamiento. En 2014 se iniciaron proyectos piloto para integrar el análisis y la gestión de estas condiciones en los sistemas de salud pública existentes, en particular en las comunidades rurales y sus redes de derivación. Se utilizó el marco de sistemas de salud de la Organización Mundial de la Salud para desarrollar los proyectos y se desarrollaron estrategias con todas las partes interesadas, incluido el gobierno. En ambos proyectos se utilizaron modelos de unidades de atención centralizados en torno a las facultades de medicina. En cuanto a la retinopatía diabética, se establecieron exámenes de detección en los centros de atención primaria y se ofreció tratamiento en los hospitales de distrito. En cuanto a la retinopatía por prematuridad, los exámenes de detección se integraron en las unidades de atención neonatal a nivel de distrito y se mejoraron las instalaciones de tratamiento en las facultades de medicina más cercanas financiadas con fondos públicos. En los dos primeros años se produjeron mejoras sustanciales en la sensibilización, la detección, el tratamiento y la asociación entre las partes interesadas, así como cambios en la política de salud pública. Para marzo de 2018, se establecieron exámenes de detección de retinopatía diabética en 50 establecimientos de 10 estados y se mejoró el tratamiento en 10 hospitales, mientras que se establecieron exámenes de detección de retinopatía por prematuridad en 16 unidades de atención neonatal en hospitales de distrito de cuatro estados y se mejoró el tratamiento en seis facultades de medicina. La promoción dentro de los gobiernos estatales fue fundamental para el éxito de la iniciativa.

Top five legal pitfalls in retinopathy of prematurity.

PURPOSE OF REVIEW: This review highlights the common areas of medicolegal risk during retinopathy of prematurity (ROP) screening. RECENT FINDINGS: Most malpractice risk in ROP comes from systemic errors that ultimately result in failure to screen the patient in a timely fashion, resulting in failures to intervene and/or refer in a timely fashion. Currently, the emphasis is engaging the family members, the hospital staff, and clinic staff to pro-actively manage ROP patients and ensure that they are screened in a timely fashion. Coordinating care between multiple caregivers can minimize risk. Risk increases when practitioners do not stay up to date on current screening and treatment guidelines or on the most recent study recommendations. Finally, it is important to maintain a high level of suspicion when dealing with infants is known to be predisposed to poor outcomes. SUMMARY: Premature infants with short gestation and very low birthweights need to have structured screening coordinated between the hospital, the clinic, the physicians, and the family in order to minimize medicolegal risk and maximize beneficial outcomes.

Current assessment of newborn hearing screening protocols.

PURPOSE OF REVIEW: The objective of this article is to assess current newborn hearing screening protocols. We will focus on technologies or modalities used, protocol steps, training of screeners, timing of first screen, and loss to follow-up. A summary of program reports focusing on protocols from Greece, China, South Africa, France, Spain, South Korea, Denmark, Italy, Turkey, Taiwan, South Korea, Poland and Iran as they are recently reported will also be presented. RECENT FINDINGS: Community-based hearing screening programs in South Africa and efforts in the Asian region are being reported. The use of automated auditory brainstem response and staged procedures are gaining popularity because of low refer rates. However, follow-up issues remain a problem. The importance of having trained nonprofessional screeners and an efficient database is becoming more evident as the number of newborns screened for hearing loss increase each year. SUMMARY: There are many reported protocols using different technologies, involving several stages, implemented in different settings which should not confuse but rather guide stakeholders so that programs may attain certain benchmarks and ultimately help the hard-at-hearing child in achieving his or her full potential.

Critical Congenital Heart Disease Newborn Screening Implementation: Lessons Learned.

Introduction The purpose of this article is to present the collective experiences of six federally-funded critical congenital heart disease (CCHD) newborn screening implementation projects to assist federal and state policy makers and public health to implement CCHD screening. Methods A qualitative assessment and summary from six demonstration project grantees and other state representatives involved in the implementation of CCHD screening programs are presented in the following areas: legislation, provider and family education, screening algorithms and interpretation, data collection and quality improvement, telemedicine, home and rural births, and neonatal intensive care unit populations. Results The most common challenges to implementation include: lack of uniform legislative and statutory mandates for screening programs, lack of funding/resources, difficulty in screening algorithm interpretation, limited availability of pediatric echocardiography, and integrating data collection and reporting with existing newborn screening systems. Identified solutions include: programs should consider integrating third party insurers and other partners early in the legislative/statutory process; development of visual tools and language modification to assist in the interpretation of algorithms, training programs for adult sonographers to perform neonatal echocardiography, building upon existing newborn screening systems, and using automated data transfer mechanisms. Discussion Continued and expanded surveillance, research, prevention and education efforts are needed to inform screening programs, with an aim to reduce morbidity, mortality and other adverse consequences for individuals and families affected by CCHD.

Universal neonatal hearing screening program in Shanghai, China: An inter-regional and international comparison.

OBJECTIVE: By comparing the Universal Neonatal Hearing Screening (UNHS) program as implemented in Shanghai and other regions in China and countries around the world, this study makes an assessment of the Shanghai model and summarizes the experiences implementing the UNHS program, so as to provide a valuable reference for other countries or regions to carry out UNHS more effectively. Since Shanghai is one of the most developed regions in China, we also examined the relationship between economic development and the UNHS starting year and coverage rate. METHODS: The study conducted a systematic review of published studies in Chinese and English on the program status of neonatal hearing screening to compare and analyze the implementation of the UNHS program in 20 cities or provinces in China and 24 regions or countries around the world. The literature search in Chinese was conducted in the three most authoritative publication databases, CNKI (China National Knowledge Infrastructure), WANFANGDATA, and CQVIP (http://www.cqvip.com/). We searched all publications in those databases with the keywords "neonatal hearing screening" (in Chinese) between 2005 and 2014. English literature was searched using the same keywords (in English). The publication database included Medline and Web of Science, and the search time period was 2000-2014. RESULTS: Shanghai was one of the first regions in China to implement UNHS, and its coverage rate was among the top regions by international comparison. The starting time of the UNHS program had no relationship with the Gross Domestic Product (GDP) per capita in the same year. Economic level serves as a threshold for carrying out UNHS but is not a linear contributor to the exact starting time of such a program. The screening coverage rate generally showed a rising trend with the increasing GDP per capita in China, but it had no relationship with the area's GDP per capita in selected regions and countries around the world. The system design of UNHS is the key factor influencing screening coverage. Policy makers, program administrators, and cost-sharing structures are important factors that influence the coverage rates of UNHS. CONCLUSION: When to carry out a UNHS program is determined by the willingness and preference of the local government, which is influenced by the area's social, political and cultural conditions. Mandatory hearing screening and minimal-cost to no-cost intervention are two pillars for a good coverage rate of UNHS. In terms of system design, decision-making, implementation, funding and the concrete implementation plan are all important factors affecting the implementation of the UNHS.

Cystic fibrosis in Latin America-Improving the awareness.

The burden of cystic fibrosis (CF) in Latin America is being increasingly recognized and is significant compared with other regions of the world. In this short communication, we assess the current situation in some Latin American countries and make suggestions for possible directions for future focus. We discuss the work that remains in deciphering how the various genetic, environmental and medical factors interact and influence outcomes in different ethnic groups. We also consider the need for consistency in both research and access to services across Latin America, including CF registries, neonatal screening programs, access to specialized CF healthcare practitioners, transition to adult clinics and treatment regimens. Progress in these areas is likely to build on the advances to date, and improve the lives of patients in Latin America who are affected by this debilitating and life-limiting disorder.

Newborn screening for spinal muscular atrophy: Anticipating an imminent need.

Spinal muscular atrophy (SMA) is the most common genetic cause of infant mortality. Children with type I SMA typically die by the age of 2 years. Recent progress in gene modification and other innovative therapies suggest that improved outcomes may soon be forthcoming. In animal models, therapeutic intervention initiated before the loss of motor neurons alters SMA phenotype and increases lifespan. Presently, supportive care including respiratory, nutritional, physiatry, and orthopedic management can ameliorate clinical symptoms and improve survival rates if SMA is diagnosed early in life. Newborn screening could help optimize these potential benefits. A recent report demonstrated that SMA detection can be multiplexed at minimal additional cost with the assay for severe combined immunodeficiency, already implemented by many newborn screening programs. The public health community should remain alert to the rapidly changing developments in early detection and treatment of SMA.

Cost-effectiveness of newborn screening for cystic fibrosis determined with real-life data.

BACKGROUND: Previous cost-effectiveness studies using data from the literature showed that newborn screening for cystic fibrosis (NBSCF) is a good economic option with positive health effects and longer survival. METHODS: We used primary data to compare cost-effectiveness of four screening strategies for NBSCF, i.e. immunoreactive trypsinogen-testing followed by pancreatitis-associated protein-testing (IRT-PAP), IRT-DNA, IRT-DNA-sequencing, and IRT-PAP-DNA-sequencing, each compared to no-screening. A previously developed decision analysis model for NBSCF was fed with model parameters mainly based on a study evaluating two novel screening strategies among 145,499 newborns in The Netherlands. RESULTS: The four screening strategies had cost-effectiveness ratios varying from €23,600 to €29,200 per life-year gained. IRT-PAP had the most favourable cost-effectiveness ratio. Additional life-years can be gained by IRT-DNA but against higher costs. When treatment costs reduce with 5% due to early diagnosis, screening will lead to financial savings. CONCLUSION: NBSCF is as an economically justifiable public health initiative. Of the four strategies tested IRT-PAP is the most economic and this finding should be included in any decision making model, when considering implementation of newborn screening for CF.