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This Consensus Statement covers recommendations for the diagnosis and management of patients with pseudohypoparathyroidism (PHP) and related disorders, which comprise metabolic disorders characterized by physical findings that variably include short bones, short stature, a stocky build, early-onset obesity and ectopic ossifications, as well as endocrine defects that often include resistance to parathyroid hormone (PTH) and TSH. The presentation and severity of PHP and its related disorders vary between affected individuals with considerable clinical and molecular overlap between the different types. A specific diagnosis is often delayed owing to lack of recognition of the syndrome and associated features. The participants in this Consensus Statement agreed that the diagnosis of PHP should be based on major criteria, including resistance to PTH, ectopic ossifications, brachydactyly and early-onset obesity. The clinical and laboratory diagnosis should be confirmed by a molecular genetic analysis. Patients should be screened at diagnosis and during follow-up for specific features, such as PTH resistance, TSH resistance, growth hormone deficiency, hypogonadism, skeletal deformities, oral health, weight gain, glucose intolerance or type 2 diabetes mellitus, and hypertension, as well as subcutaneous and/or deeper ectopic ossifications and neurocognitive impairment. Overall, a coordinated and multidisciplinary approach from infancy through adulthood, including a transition programme, should help us to improve the care of patients affected by these disorders.

ObjectiveTo evaluate England’s NHS newborn sickle cell screening programme performance in children up to the age of 5 years.DesignCohort of resident infants with sickle cell disease (SCD) born between 1 September 2010 and 31 August 2015 and followed until August 2016.Participants1317 infants with SCD were notified to the study from all centres in England and 1313 (99%) were followed up.InterventionsEarly enrolment in clinical follow-up, parental education and routine penicillin prophylaxis.Main outcome measuresAge seen by a specialist clinician, age at prescription of penicillin prophylaxis and mortality.ResultsAll but two resident cases of SCD were identified through screening; one baby was enrolled in care after prenatal diagnosis; one baby whose parents refused newborn screening presented symptomatically. There were 1054/1313 (80.3%, 95% CI 78% to 82.4%) SCD cases seen by a specialist by 3 months of age and 1273/1313 (97%, 95% CI 95.9% to 97.8%) by 6 months. The percentage seen by 3 months increased from 77% in 2010 to 85.4% in 2015. 1038/1292 (80.3%, 95% CI 78.1% to 82.5%) were prescribed penicillin by 3 months of age and 1257/1292 (97.3%, 95% CI 96.3% to 98.1%) by 6 months. There were three SCD deaths <5 years caused by invasive pneumococcal disease (IPD) sensitive to penicillin.ConclusionThe SCD screening programme is effective at detecting affected infants. Enrolment into specialist care is timely but below the programme standards. Mortality is reducing but adherence to antibiotic prophylaxis remains important for IPD serotypes not in the current vaccine schedule.

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.

To reduce the incidence of severe neonatal hyperbilirubinemia affecting newborns with jaundice in the United States and to prevent kernicterus, there is a need to implement proven prevention strategies for severe neonatal hyperbilirubinemia as recommended in the 2004 American Academy of Pediatrics Guidelines for newborns >35 weeks gestational age. The purpose of universal predischarge bilirubin screening is to identify infants with bilirubin levels >75th percentile for age in hours and track those with rapid rates of bilirubin rise (>0.2 mg per 100 ml per h). Early identification has been reported to predict severe hyperbilirubinemia and allow for evidence-based targeted interventions. A systems approach is likely to reduce the preventable causes of acute bilirubin encephalopathy. To do so, highest priority should be given to (i) designating extreme hyperbilirubinemia (total serum bilirubin >427 μmol l −1 or >25 mg per 100 ml) as a reportable condition by laboratories and health-care providers through public health mandates; (ii) implementation of Joint Commission's Sentinel Report for kernicterus; (iii) nursing outreach to communities for education of prospective parents; (iv) development of clinical pathways to monitor, evaluate and track infants with extreme hyperbilirubinemia; and (v) societal awareness. These efforts should be monitored by a state and national surveillance system in order to critically improve the timeliness and completeness of notifications and to allow evaluation and interventions at the policy and individual family level.

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.

Countries that have not yet developed evidence-based criteria need to adopt wider BW and GA criteria than anticipated in the first instance, and data need be recorded from a large number of infants in a range of units in order derive guidelines that reflect the variation in care between neonatal units, as in the Oman study. 2 Plotting BW against GA can assist in delineating safe criteria for screening. 3 4 Indications for screening are likely to continue to vary as long as the population at risk of sight-threatening ROP varies, and so one size will not fit all. New, lower-cost wide-field digital cameras are also on the horizon, which offer the potential for staff in the neonatal unit to capture the retinal images, with interpretation using one of the approaches outlined above. 7 There is, therefore, potential for even greater variability in screening approaches in the foreseeable future.

Strategies for the prevention and control of genetic and congenital disorders in the Arab world 2 Integration of community genetic services into primary healthcare systems, such as the integration of preconception counselling and screening into the existing reproductive health programmes in the country; this requires education and training of primary health workers Education of the public through updating high school curriculums and mass media educational campaigns that are scientifically based and appropriately delivered with respect to local cultural and religious beliefs Strengthening human resources by updating medical and nursing college curriculums related to the practice of human genetics, with more emphasis on practical guidelines for how to approach common genetic and congenital disorders Initiation of population screening programmes and national birth registries Introducing new technology and strengthening of existing genetic service Defining the ethical, legal, religious, and cultural factors in formulating genetic services, such as specific guidelines for prenatal genetic diagnosis and termination of a fetus affected by a genetic or congenital disease Role of GPs outside the Arab world General practitioners looking after Arab families outside the Arab world should always inquire about the presence and degree of consanguinity.

Background:Despite the high prevalence of sickle cell disease in Africa, a neonatal screening programme is available in only a few countries in the sub-Saharan region.Aim:To describe our experience of a pioneer study on 31 304 newborns screened systematically in the Democratic Republic of the Congo.Methods:The prevalence of haemoglobinopathies was determined by a thin-layer isoelectric focusing method on dry filter-paper samples.Results:Of the 31 204 newborns screened by isoelectric focusing, 5276 (16.9%) displayed sickle cell trait and 428 (1.4%) were homozygous for haemoglobin S. No statistical differences were observed in the different ethno-linguistic groups, but some tribes displayed a higher prevalence of the βS gene, attributable to a higher prevalence of malaria, and a greater frequency of haemoglobin S homozygotes, in part attributable to an endogamic marriage system.Conclusion:The neonatal screening programme has now been introduced in the Democratic Republic of the Congo, but the main challenges are to track all the new cases for a confirmatory test and to initiate early management.

Aims:To develop a strategy for neonatal screening of sickle cell disease (SCD) and effective enrolment of affected neonates in a comprehensive follow-up programme adapted to the socioeconomic conditions, health structures and cultural background of an African setting.Methods:The strategy implemented at the two largest maternity services of Cotonou, the economic capital of the Republic of Benin, involves a team of specifically trained midwives, first to identify pregnant women at risk, and second to provide active and repeated information and sensitisation to these women to encourage voluntary demand for newborn screening and enrolment in the follow-up programme.Results:Among the consecutive pregnant women studied (about 3000), 79.5% of the informed women at risk for fetal SCD asked for testing of their offspring, 85.2% of the newborns who tested positive were enrolled in the programme, and more than 80% were still being followed up after 5 years. The under-five mortality rate in this series was 15.5 per 10000, a figure that is 10 times lower than the general rate recorded in the Republic of Benin.Conclusions:The results demonstrate that this specifically tailored strategy is relevant to this setting, given the unique conditions of this African country.

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.