National survey of early hearing detection and intervention in the private health care sector

Dissertation (MCommunication Pathology)--University of Pretoria, 2013.Speech-Language Pathology and AudiologyUnrestricte

Newborn hearing screening in the private health care sector : a national survey

OBJECTIVES: To determine: (i) the national status of newborn hearing screening services in the private health care sector of South Africa; (ii) screening approaches implemented; and (iii) challenges to screening implementation. DESIGN: A descriptive quantitative national survey was conducted in the private sector of South Africa. METHOD: All private health sector institutions with obstetric units (N=166) were surveyed telephonically and self-administered questionnaires were subsequently sent to all audiologists in private practice (N=87) who provide newborn hearing screening services at the units with hearing screening. RESULTS: Nationally 53% of private sector obstetric units offer some form of newborn hearing screening. Universal hearing screening was only offered by 14% of units, while the most common approaches were universal screening on some days of the week (18%) and screening on request (18%). The most prominent challenge to successful screening implementation was the omission of newborn hearing screening from maternity birthing packages at the health care institutions. CONCLUSION: The vast majority of newborns nationally are not screened for hearing loss, and existing programmes are not sufficiently systematic and integrated to ensure adequate coverage. Hospital management and paediatric health services must prioritise hearing screening as part of standard of care in birthing services.http://www.samj.org.z

National survey of paediatric audiological services for diagnosis and intervention in the South African private health care sector

OBJECTIVE : A national survey of early hearing detection and intervention services was undertaken to describe the current status of diagnostic and intervention services in the South African private health care sector. METHODS : All private hospitals with obstetric units (n = 166) were surveyed telephonically. The data was integrated with data collected from self-administered questionnaires subsequently distributed nationally to private audiology practices providing hearing screening at the respective hospitals reporting hearing screening services (n = 87). Data was analysed descriptively to yield national percentages and frequency distributions. RESULTS : Average reported age at diagnosis was 11 months. Most participants (74%) indicated that less than 20% of infants fitted with hearing aids received amplification before the age of 6 months. Most (64%) participants indicated that the average period between confirmed diagnosis and hearing aid fitting was 1 month, on par with international benchmarks. Only 16%–23% of participants included all diagnostic procedures recommended by the Health Professions Council of South Africa’s 2007 position statement for minimum diagnostic test batteries for infants and young children. CONCLUSIONS : Diagnosis of hearing loss, hearing aid fitting and audiological intervention is delayed significantly in the South African private health care sector. Improved services should include integrated systematic hospital-based screening as part of birthing packages with diagnostic referral to specialist paediatric audiologists for accurate assessment and management of patients in a timely manner.http://www.sajcd.org.zaam201

Early detection of infant hearing loss in the private health care sector of South Africa

OBJECTIVE : A national survey of early hearing detection services was undertaken to describe the demographics, protocols and performance of early hearing detection, referral, follow-up and data management practices in the private health care sector of South Africa. METHODS : All private hospitals with obstetric units (n = 166) in South Africa were surveyed telephonically. This data was incorporated with data collected from self-administered questionnaires subsequently distributed nationally to audiology private practices providing hearing screening at the respective hospitals reporting hearing screening services (n = 87). Data was analyzed descriptively to yield national percentages and frequency distributions and possible statistical associations between variables were explored. RESULTS : Newborn hearing screening was available in 53% of private health care obstetric units in South Africa of which only 14% provided universal screening. Most (81%) of the healthy baby screening programs used only otoacoustic emission screening. Auditory brainstem response screening was employed by 24% of neonatal intensive care unit screening programs with only 16% repeating auditory brainstem response screening during the follow-up screen. Consequently 84% of neonatal intensive care unit hearing screening programs will not identify auditory neuropathy. A referral rate of less than 5% for diagnostic assessments was reported by 80% of universal programs. Follow-up return rates were reported to exceed 70% by only 28% of programs. Using multiple methods of reminding parents did not significantly increase reported follow-up return rates. Data management was mainly paper based with only 10% of programs using an electronic database primarily to manage screening data. CONCLUSIONS : A shortage of programs and suboptimal and variable protocols for early hearing detection, follow-up and data management in existing programs mean the majority of babies with hearing loss in the South African private health care sector will not be identified early. Newborn hearing screening must be integrated with hospital-based birthing services, ideally with centralized data management and quality control.http://www.elsevier.com/locate/ijporlnf201

Pediatric Hospitalizations Associated with 2009 Pandemic Influenza A (H1N1) in Argentina

Fil: Libster, Romina. Fundación Infant, Ciudad Autónoma de Buenos Aires; Argentina.Fil: Bugna, Jimena. Fundación Infant, Ciudad Autónoma de Buenos Aires; Argentina.Fil: Coviello, Silvina. Fundación Infant, Ciudad Autónoma de Buenos Aires; Argentina.Fil: Hijano, Diego R. Hospital De Niños Sor María Ludovica, La Plata; Argentina.Fil: Dunaiewsky, Mariana. Hospital General de Niños Pedro de Elizalde, Ciudad Autónoma de Buenos Aires; Argentina.Fil: Reynoso, Natalia. Hospital Municipal Materno Infantil de San Isidro; Argentina.Fil: Cavalieri, Maria L. Hospital Eva Perón, Benito Juárez, Buenos Aires; ArgentinaFil: Guglielmo, Maria C. Hospital General de Niños Pedro de Elizalde, Ciudad Autónoma de Buenos Aires; Argentina.Fil: Areso, M. Soledad. Hospital Eva Perón, Benito Juárez, Buenos Aires; ArgentinaFil: Gilligan, Tomas. Hospital General de Agudos Carlos G. Durand, Ciudad Autónoma de Buenos Aires; Argentina.Fil: Santucho, Fernanda. Hospital General de Agudos Carlos G. Durand, Ciudad Autónoma de Buenos Aires; Argentina.Fil: Cabral, Graciela. Hospital Nacional Profesor Alejandro Posadas, El Palomar, Buenos Aires; Argentina.Fil: Gregorio, Gabriela L. Hospital Nacional Profesor Alejandro Posadas, El Palomar, Buenos Aires; Argentina.Fil: Moreno, Rina. Hospital Nacional Profesor Alejandro Posadas, El Palomar, Buenos Aires; Argentina.Fil: Lutz, Maria I. Hospital Nacional Profesor Alejandro Posadas, El Palomar, Buenos Aires; Argentina.Fil: Panigasi, Alicia L. Hospital Nacional Profesor Alejandro Posadas, El Palomar, Buenos Aires; Argentina.Fil: Saligari, Liliana. Hospital Nacional Profesor Alejandro Posadas, El Palomar, Buenos Aires; Argentina.Fil: Caballero, Mauricio T. Hospital De Niños Sor María Ludovica, La Plata; Argentina.Fil: Egües Almeida, Rodrigo M. Hospital De Niños Sor María Ludovica, La Plata; Argentina.Fil: Gutierrez Meyer, Maria E. Hospital De Niños Sor María Ludovica, La Plata; Argentina.Fil: Neder, Maria D. Hospital General de Niños Pedro de Elizalde, Ciudad Autónoma de Buenos Aires; Argentina.Fil: Davenport, Maria C. Hospital General de Niños Pedro de Elizalde, Ciudad Autónoma de Buenos Aires; Argentina.Fil: Del Valle, Maria P. Hospital General de Niños Pedro de Elizalde, Ciudad Autónoma de Buenos Aires; Argentina.Fil: Santidrian, Valeria S. Hospital General de Niños Pedro de Elizalde, Ciudad Autónoma de Buenos Aires; Argentina.Fil: Mosca, Guillermina. Ministerio de Ciencia, Técnica e Innovación. Fundación Infant, Ciudad Autónoma de Buenos Aires; Argentina.Fil: Alvarez, Liliana. Hospital General de Agudos Carlos G. Durand, Ciudad Autónoma de Buenos Aires; Argentina.Fil: Landa, Patricia. Hospital General de Agudos Carlos G. Durand, Ciudad Autónoma de Buenos Aires; Argentina.Fil: Pota, Ana. Hospital General de Agudos Carlos G. Durand, Ciudad Autónoma de Buenos Aires; Argentina.Fil: Boloñati, Norma. Hospital General de Agudos Carlos G. Durand, Ciudad Autónoma de Buenos Aires; Argentina.Fil: Dalamon, Ricardo. Hospital General de Agudos Carlos G. Durand, Ciudad Autónoma de Buenos Aires; Argentina.Fil: Sanchez Mercol, Victoria I. Hospital Eva Perón, Benito Juárez, Buenos Aires; Argentina.Fil: Espinoza, Marco. Fundación Infant, Ciudad Autónoma de Buenos Aires; Argentina.Fil: Peuchot, Juan Carlos. Hospital Eva Perón, Benito Juárez, Buenos Aires; Argentina.Fil: Karolinski, Ariel. Hospital General de Agudos Carlos G. Durand, Ciudad Autónoma de Buenos Aires; Argentina.Fil: Bruno, Miriam. Hospital General de Agudos Carlos G. Durand, Ciudad Autónoma de Buenos Aires; Argentina.Fil: Borsa, Ana. Hospital General de Niños Pedro de Elizalde, Ciudad Autónoma de Buenos Aires; Argentina.Fil: Ferrero, Fernando. Hospital General de Niños Pedro de Elizalde, Ciudad Autónoma de Buenos Aires; Argentina.Fil: Bonina, Angel. Hospital De Niños Sor María Ludovica, La Plata; Argentina.Fil: Ramonet, Margarita. Hospital Nacional Profesor Alejandro Posadas, El Palomar, Buenos Aires; Argentina.Fil: Albano, Lidia C. Hospital Nacional Profesor Alejandro Posadas, El Palomar, Buenos Aires; Argentina.Fil: Luedicke, Nora. Ministerio de Ciencia, Técnica e Innovación. Fundación Infant, Ciudad Autónoma de Buenos Aires; Argentina.Fil: Alterman, Elias. Fundación Infant, Ciudad Autónoma de Buenos Aires; Argentina.Fil: Savy, Vilma L. ANLIS Dr.C.G.Malbrán. Instituto de Enfermedades Infecciosas; Argentina.Fil: Baumeister, Elsa. ANLIS Dr.C.G.Malbrán. Instituto Nacional de Enfermedades Infecciosas. Departamento de Virología. Servicio de Virosis Respiratoria; Argentina.Fil: Chappell, James D. Vanderbilt University. Pathology, Nashville, Tennessee; Estados Unidos.Fil: Edwards, Kathryn M. Vanderbilt University. Departments of Pediatrics, Nashville, Tennessee; Estados Unidos.Fil: Melendi, Guillermina A. Vanderbilt University. Departments of Pediatrics, Nashville, Tennessee; Estados Unidos.Fil: Polack, Fernando P. Vanderbilt University. Departments of Pediatrics, Nashville, Tennessee; Estados Unidos.Background: While the Northern Hemisphere experiences the effects of the 2009 pandemic influenza A (H1N1) virus, data from the recent influenza season in the Southern Hemisphere can provide important information on the burden of disease in children. Methods: We conducted a retrospective case series involving children with acute infection of the lower respiratory tract or fever in whom 2009 H1N1 influenza was diagnosed on reverse-transcriptase polymerase-chain-reaction assay and who were admitted to one of six pediatric hospitals serving a catchment area of 1.2 million children. We compared rates of admission and death with those among age-matched children who had been infected with seasonal influenza strains in previous years. Results: Between May and July 2009, a total of 251 children were hospitalized with 2009 H1N1 influenza. Rates of hospitalization were double those for seasonal influenza in 2008. Of the children who were hospitalized, 47 (19%) were admitted to an intensive care unit, 42 (17%) required mechanical ventilation, and 13 (5%) died. The overall rate of death was 1.1 per 100,000 children, as compared with 0.1 per 100,000 children for seasonal influenza in 2007. (No pediatric deaths associated with seasonal influenza were reported in 2008.) Most deaths were caused by refractory hypoxemia in infants under 1 year of age (death rate, 7.6 per 100,000). Conclusions: Pandemic 2009 H1N1 influenza was associated with pediatric death rates that were 10 times the rates for seasonal influenza in previous years

Mortality from gastrointestinal congenital anomalies at 264 hospitals in 74 low-income, middle-income, and high-income countries: a multicentre, international, prospective cohort study

Summary Background Congenital anomalies are the fifth leading cause of mortality in children younger than 5 years globally. Many gastrointestinal congenital anomalies are fatal without timely access to neonatal surgical care, but few studies have been done on these conditions in low-income and middle-income countries (LMICs). We compared outcomes of the seven most common gastrointestinal congenital anomalies in low-income, middle-income, and high-income countries globally, and identified factors associated with mortality. Methods We did a multicentre, international prospective cohort study of patients younger than 16 years, presenting to hospital for the first time with oesophageal atresia, congenital diaphragmatic hernia, intestinal atresia, gastroschisis, exomphalos, anorectal malformation, and Hirschsprung’s disease. Recruitment was of consecutive patients for a minimum of 1 month between October, 2018, and April, 2019. We collected data on patient demographics, clinical status, interventions, and outcomes using the REDCap platform. Patients were followed up for 30 days after primary intervention, or 30 days after admission if they did not receive an intervention. The primary outcome was all-cause, in-hospital mortality for all conditions combined and each condition individually, stratified by country income status. We did a complete case analysis. Findings We included 3849 patients with 3975 study conditions (560 with oesophageal atresia, 448 with congenital diaphragmatic hernia, 681 with intestinal atresia, 453 with gastroschisis, 325 with exomphalos, 991 with anorectal malformation, and 517 with Hirschsprung’s disease) from 264 hospitals (89 in high-income countries, 166 in middleincome countries, and nine in low-income countries) in 74 countries. Of the 3849 patients, 2231 (58·0%) were male. Median gestational age at birth was 38 weeks (IQR 36–39) and median bodyweight at presentation was 2·8 kg (2·3–3·3). Mortality among all patients was 37 (39·8%) of 93 in low-income countries, 583 (20·4%) of 2860 in middle-income countries, and 50 (5·6%) of 896 in high-income countries (p<0·0001 between all country income groups). Gastroschisis had the greatest difference in mortality between country income strata (nine [90·0%] of ten in lowincome countries, 97 [31·9%] of 304 in middle-income countries, and two [1·4%] of 139 in high-income countries; p≤0·0001 between all country income groups). Factors significantly associated with higher mortality for all patients combined included country income status (low-income vs high-income countries, risk ratio 2·78 [95% CI 1·88–4·11], p<0·0001; middle-income vs high-income countries, 2·11 [1·59–2·79], p<0·0001), sepsis at presentation (1·20 [1·04–1·40], p=0·016), higher American Society of Anesthesiologists (ASA) score at primary intervention (ASA 4–5 vs ASA 1–2, 1·82 [1·40–2·35], p<0·0001; ASA 3 vs ASA 1–2, 1·58, [1·30–1·92], p<0·0001]), surgical safety checklist not used (1·39 [1·02–1·90], p=0·035), and ventilation or parenteral nutrition unavailable when needed (ventilation 1·96, [1·41–2·71], p=0·0001; parenteral nutrition 1·35, [1·05–1·74], p=0·018). Administration of parenteral nutrition (0·61, [0·47–0·79], p=0·0002) and use of a peripherally inserted central catheter (0·65 [0·50–0·86], p=0·0024) or percutaneous central line (0·69 [0·48–1·00], p=0·049) were associated with lower mortality. Interpretation Unacceptable differences in mortality exist for gastrointestinal congenital anomalies between lowincome, middle-income, and high-income countries. Improving access to quality neonatal surgical care in LMICs will be vital to achieve Sustainable Development Goal 3.2 of ending preventable deaths in neonates and children younger than 5 years by 2030

Early detection of infant hearing loss in the private health care sector of South Africa

OBJECTIVE : A national survey of early hearing detection services was undertaken to describe the demographics, protocols and performance of early hearing detection, referral, follow-up and data management practices in the private health care sector of South Africa. METHODS : All private hospitals with obstetric units (n = 166) in South Africa were surveyed telephonically. This data was incorporated with data collected from self-administered questionnaires subsequently distributed nationally to audiology private practices providing hearing screening at the respective hospitals reporting hearing screening services (n = 87). Data was analyzed descriptively to yield national percentages and frequency distributions and possible statistical associations between variables were explored. RESULTS : Newborn hearing screening was available in 53% of private health care obstetric units in South Africa of which only 14% provided universal screening. Most (81%) of the healthy baby screening programs used only otoacoustic emission screening. Auditory brainstem response screening was employed by 24% of neonatal intensive care unit screening programs with only 16% repeating auditory brainstem response screening during the follow-up screen. Consequently 84% of neonatal intensive care unit hearing screening programs will not identify auditory neuropathy. A referral rate of less than 5% for diagnostic assessments was reported by 80% of universal programs. Follow-up return rates were reported to exceed 70% by only 28% of programs. Using multiple methods of reminding parents did not significantly increase reported follow-up return rates. Data management was mainly paper based with only 10% of programs using an electronic database primarily to manage screening data. CONCLUSIONS : A shortage of programs and suboptimal and variable protocols for early hearing detection, follow-up and data management in existing programs mean the majority of babies with hearing loss in the South African private health care sector will not be identified early. Newborn hearing screening must be integrated with hospital-based birthing services, ideally with centralized data management and quality control.http://www.elsevier.com/locate/ijporlnf201

C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation.

peer reviewedBACKGROUNDDeciphering the function of the many genes previously classified as uncharacterized open reading frame (ORF) would complete our understanding of a cell's function and its pathophysiology.METHODSWhole-exome sequencing, yeast 2-hybrid and transcriptome analyses, and molecular characterization were performed in this study to uncover the function of the C2orf69 gene.RESULTSWe identified loss-of-function mutations in the uncharacterized C2orf69 gene in 8 individuals with brain abnormalities involving hypomyelination and microcephaly, liver dysfunction, and recurrent autoinflammation. C2orf69 contains an N-terminal signal peptide that is required and sufficient for mitochondrial localization. Consistent with mitochondrial dysfunction, the patients showed signs of respiratory chain defects, and a CRISPR/Cas9-KO cell model of C2orf69 had similar respiratory chain defects. Patient-derived cells revealed alterations in immunological signaling pathways. Deposits of periodic acid-Schiff-positive (PAS-positive) material in tissues from affected individuals, together with decreased glycogen branching enzyme 1 (GBE1) activity, indicated an additional impact of C2orf69 on glycogen metabolism.CONCLUSIONSOur study identifies C2orf69 as an important regulator of human mitochondrial function and suggests that this gene has additional influence on other metabolic pathways