14H45 – 15H00 Faecal carriage of extended-spectrum beta-lactamase- and
carbapenemase-producing enterobacteriaceae in healthy infants
and their mothers, South Africa. R. Manenzhe 36
15H00 – 15H30 T E A & POSTERS
Session 6: Chairperson: A Argent
15H30 – 16H00 The Drakenstein Child Health Study: investigating the early
determinants of child health in South Africa. H. Zar 37
16H00 – 16H15 Streptococcus pneumoniae nasopharyngeal colonization, serotype
distribution and impact of vaccination during the first year of life:
a South African birth cohort study. F. Dube 39
16H15 – 16H30 Lung function in the first year of life in African infants:
effect of early life pneumonia. L. Willemse 40
16H30 – 16H45 Incidence of childhood pneumonia: facility-based surveillance
estimate compared to measured incidence in a South African birth
cohort study. D. le Roux 41
16H45 – 17H00 Feedback on Research Day presentations, with Award & Research Prizes by
Profs. D. & S. Hall
Closing remarks by H Zar
Poster Presentations Page No.
-
THE SPATIAL DISTRIBUTION OF INJURY MORTALITY OF CHILDREN IN THE
WESTERN GEOGRAPHIC SERVICE AREA, CITY OF CAPE TOWN (2011-2015).
Z. Albertyn, D. Coetzee, S. Mathews 42
-
DYNAMICS OF THE NASOPHARYNGEAL MICROBIOME PRECEDING AND AT
THE ONSET OF PNEUMONIA IN INFANTS: A PILOT STUDY. S. Claassen, E. du Toit,
S. Lubbe, H.J. Zar, M.P. Nicol 43
-
FEASIBILITY OF PULSE OXIMETRY PRE-DISCHARGE SCREENING
IMPLEMENTATION FOR DETECTING CRITICAL CONGENITAL HEART LESIONS
IN NEWBORNS IN A SECONDARY LEVEL MATERNITY HOSPITAL IN THE WESTERN
CAPE, SOUTH AFRICA - THE "POPSICLE" STUDY. A.M. van Niekerk, R.M. Cullis, L.L.
Linley, L. Zuhlke 44
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KNOWLEDGE AND EXPERIENCES OF PARENTS WITH CHILDREN AFFECTED BY
SICKLE CELL DISEASE IN CAPE TOWN. K. Fourie, J. de Vries, N. Laing, A. Wonkam 45
-
PREVALENCE OF EIGHT MUTATIONS IDENTIFIED BY TARGETED EXOME
SEQUENCING AMONGST AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING
LOSS PATIENTS FROM CAMEROON. K. Lebeko, J.J.N. Noubiap, C.Dandara, R. Smith,
A. Wonkam 46
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FACTORS INFLUENCING THE PROVISION OF MOTHERS' OWN BREAST MILK FOR
PRETERM INFANTS IN A SOUTH AFRICAN TERTIARY NEONATAL
UNIT. K. Mutesu-Kapembwa, S. Raban, Y. Joolay 47
-
A REVIEW OF THE LITERATURE ON HEALTH ASSESSMENT TRAINING IN NURSING
PROGRAMS. L. Rees 48
-
DEMOGRAPHIC AND CLINICAL CHARACTERISTICS OF CHILDREN WITH JUVENILE DERMATOMYOSITIS IN CAPE TOWN. L.O. Okong’o, J. Wilmshurst, C. Scott 49
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WOMEN'S EXPERIENCES OF RECEIVING A CHILD'S FETAL ALCOHOL SPECTRUM
DISORDER DIAGNOSIS: A WESTERN CAPE STUDY. T. Shaw, T-M. Wessels, L. Olivier,
C. Lombard 50
-
ROLE OF FOCUSED ABDOMINAL SONOGRAPHY IN TRAUMA (FAST) AS A
SCREENING TOOL FOR BLUNT ABDOMINAL TRAUMA (BAT) IN YOUNG CHILDREN
INVOLVED IN HIGH VELOCITY TRAUMA. W.S. Tummers, H. Langeveld, J.van Schuppen,
J.C.H. Wilde, A.B. van As, A.J. Millar, A. Numanoglu 51
-
EVALUATION OF A FOCUSED PROTOCOL FOR HAND-HELD ECHOCARDIOGRAPHY
AND COMPUTER-ASSISTED AUSCULTATION IN DETECTING LATENT RHEUMATIC
HEART DISEASE IN SCHOLARS. L. Zuhlke, M.E. Engel, S. Nkepu, B.M. Mayosi 52
Title: FIELD EVALUATION OF POINT-OF-CARE TESTING FOR EARLY INFANT DIAGNOSIS IN CAPE TOWN, SOUTH AFRICA
Authors: SM. Kroon1, L. Dunning2, M. Hsiao3, L. Myer2
Affiliation: 1Division of Neonatal Medicine, Department of Paediatrics & Child Health,University of Cape Town, Cape Town, South Africa, 2Division of Epidemiology& Biostatistics, School of Public Health & Family Medicine, University of Cape Town, Cape Town, South Africa, 3Division of Medical Virology, University of Cape Town, Cape Town, South Africa
Background:
Provision of rapid early infant HIV diagnosis (EID) service remains a challenge for prevention of mother-to-child transmission programmes globally. Point-of-care (POC) EID testing may improve access and turnaround times, but while several POC technologies are in development
there are few data on implementation.
Methods:
We conducted an implementation study of the Alere q Detect POC system for EID at two public sector health facilities. At a maternity hospital the POC device was used to test HIV-exposed neonates soon after birth; at a primary care clinic the device was used for routine six-week EID testing. At
each site infants undergoing laboratory-based HIV PCR testing per local protocols were tested on the POC device by doctors or nurses with results available within 1 hour. Analysis examined the performance of POC versus laboratory testing of the same specimen, and semi-structured interviews with providers to assess implementation issues and acceptability.
Results:
Overall 470 tests were conducted: 285 birth tests in the maternity hospital (median child age, < 1 day) and 185 six-week tests in primary care (median child age, 42 days). 10.6% of all tests resulted in an error with no differences by site; most error results resolved with retesting. POC EID was more sensitive (100%; lower confidence limit, 40%) and specific (100%, lower confidence limit, 98%) among older children tested in primary care compared birth testing in hospital (93%, [95% CI, 66-100%] and 99% [95% CI, 98-100%], respectively), though test performance improved with repeated lab testing and negative predictive value was high (>99%) at both sites. In interviews, providers felt that the ease of use of the device coupled with the rapid turnaround time of POC EID results facilitated decision-making in the management of infants, but many wanted to understand better the cause of errors on the POC device to assist in repeat testing.
Conclusions:
POC EID testing performs well in field implementation in health care facilities and is highly acceptable to health care providers. While further research is needed to understand POC EID implementation at scale, the rapid turnaround time of POC testing may allow immediate identification and management of HIV-infected infants.
Title: HIV EXPOSED VERY LOW BIRTH WEIGHT (<1500g) INFANTS: ARE THEY ALL REALLY ‘HIGH RISK’?
Authors: C Levin, MC Harrison, L Tooke
Background:
The preterm infant is at higher risk of perinatal HIV transmission due to immunological reasons as well as having thinner and more friable skin and mucous membranes. However there is a paucity of research on transmission to the very preterm infant. Groote Schuur nursery has previously shown that with proper care the transmission rate to very low birth weight (VLBW) infants (2,7%) can approximate those of term infants. This low rate of transmission was achieved using neviripine (NVP) as a single agent to those babies deemed at a lower risk.
At the time of this study policy had changed and all HIV exposed infants in the Western Cape born before 37 weeks gestation or with a birth weight less than 2500g were deemed ‘high risk exposed’ irrespective of maternal factors or viral load. Consequently these infants were placed on dual prophylaxis which included zidovudine (AZT) and NVP. This is in contrast to other countries where infants born to mothers with a low viral load and pre-labour caesarean section (c/s) are considered ‘low-risk’.
Objectives:
To describe a cohort of HIV exposed very low births weight infants and document their birth PCR, ARV history, and follow up their 6 and 10 week PCR.
Methods:
A questionnaire was developed. Data was collected from GSH and New Somerset Hospital (NSH) from 1 August 2014- 31 March 2015 of all HIV exposed VLBW infants. The data was then captured and analysed using an excel spread sheet.
Results:
84 patients (77 from GSH and 7 from NSH) were included. 2 infants died on the first day of life and did not receive a birth PCR. 5 out of 82 (6%) of the infants had a positive birth PCR. In all 5 of the PCR positive babies, maternal HAART was inadequate. These 5 positive infants were started on triple therapy and their progress followed.
Of the 77 birth PCR negative infants, 9 died and 10 had outstanding 6 week PCR results. The remaining 58 infants were all 6 week PCR negative. All available subsequent HIV testing in these infants has also remained negative.
Conclusion:
This is one of the largest cohorts of HIV exposed infants described. Our findings confirm that preterm Infants born to mothers with a low viral load are at low risk of intra-uterine infection. Dual prophylaxis eliminated perinatal transmission. However, looking at our previous study, a similar result was achieved with NVP alone and we suggest that infants of mothers who have low viral loads and have a pre-labour c/s should be considered low risk. This would minimise their exposure to potentially toxic medications.
Ethical Approval: R038/2014
Title: VACCINATION OF THE PRETERM INFANT – IS IT FEASIBLE AND SAFE?
Authors: B Louw, C Bailey, MC Harrison, L Tooke
Background:
Preterm infants are at a higher risk from vaccine preventable infections than their term counterparts due to immunological, anatomical and developmental reasons. Despite current recommendations that preterm infants receive their vaccines at chronological and not corrected age, this is poorly implemented in most centres. Concerns about effectiveness and safety, as well as compartmentalization of care are major reasons for these short fallings.
In October 2014 Groote Schuur hospital (GSH) nursery decided to institute a protocol of vaccinating all preterm infants at chronological age.
Objective:
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To determine if the protocol was being adhered to correctly
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To describe the logistical problems surrounding the implementation
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To document any adverse events due to introduction of vaccinations.
Methods:
The study took place for 7 months between October 2014 and April 2015. All neonates that were still in GSH nursery at 6 weeks of age were included. Data were collected from patient files and medication charts on which vaccines were prescribed. Age and date at which immunisations were given were entered into an Excel spreadsheet along with any complications or problems with providing immunisations.
Results:
A total of 60 babies were included. 57 babies received six week immunisations with 15 of them being delayed for at least one week. Of the 3 that was not vaccinated, 2 were because vaccination was contra-indicated and one had no record of vaccine administration. 5 babies were old enough for 10 week immunisations, 3 of which were given on time.
Nursing staff were willing and competent in administering vaccinations. Concern about the pain babies experience when giving immunisations were noted.
Immunisations were delayed due to short supply on 7 occasions, but were provided within 2 days in all cases. No adverse events following vaccination were recorded for 72hrs after administration.
Conclusion:
The vast majority (98%) of babies received their immunizations appropriately with 74% of these being within a week of the recommended schedule. The implementation of the preterm vaccination schedule was feasible and safe.
Ethical Approval: R039/2015
Title: BACTERAEMIA IN THE NEONATAL UNIT AT NEW SOMERSET HOSPITAL: A RETROSPECTIVE RECORD REVIEW OF BLOOD CULTURES, 2011-2014
Authors: Wakithi Mabaso1, Abigail Wood1, Dave le Roux2
Affiliation: 1University of Cape Town; 2Department of Paediatrics and Child Health, University of Cape Town, and New Somerset Hospital
Background:
Hospital acquired infections are common in babies admitted to neonatal units, and contribute substantially to morbidity and mortality of this population. Incidence of hospital acquired infections in neonatal units in South Africa is not well described; estimates range between 11 and 34% of neonates admitted are diagnosed with a hospital acquired infection. A database of infections has been maintained by the medical staff of the neonatal unit at Somerset Hospital.
Methods:
A retrospective analysis of the neonatal infections database was performed. Infections occurring within the first 2 days of life were considered congenital or perinatally acquired; infections occurring after the 2nd day of life were considered hospital-acquired. Incidence rates of hospital acquired infections were calculated for each year. Simple comparative statistics were used to compare proportions of bacteraemias due to different pathogens. Bacteraemias recorded in the neonatal infections database for one year (2013) were compared to a data export from the National Health Laboratory Service’s microbiology laboratory.
Results:
From 1 January 2011 to 31 December 2014, there were 4974 admissions to the neonatal unit; there were 72 episodes of bacteraemia in 70 neonates (2 neonates had 2 episodes). The incidence of hospital acquired infections was 8.64 episodes per 1000 admisisons; there was a trend of reduced incidence, from 14 per 1000 admissions in 2011 in 6 per 1000 admissions in 2014. 76 organisms were isolated in 72 blood cultures. 43/72 (60%) of bacteraemias were considered “hospital acquired”. The most common perinatally-acquired pathogen was Group B streptococcus (11/29, 38%). The most common hospital-acquired bacteria were enteric Gram negatives: Escherischia coli (13/43, 30%), Klebsiella pneumoniae (6/43, 14%) and Enterobacter cloacae (5/43, 12%). These Gram negatives showed high level of resistance to commonly used antibiotics: 35% were resistant to gentamicin, 61% were resistant to amikacin, and 36% were resistant to 3rd generation cephalosporins. When the neonatal unit database for 2013was compared to the NHLS microbiology data, 7/26 (27%) of bacteraemias had not been recorded at all; of the 19 that had been recorded, 2 had been incorrectly entered.
Conclusion:
There is a high burden of bacteraemia in neonates, and a large percentage bacteraemias are hospital-acquired. Group B streptococcus and enteric Gram negatives are the most common pathogens. The incidence of hospital acquired infections would appear to be decreasing, but the extent of under-reporting of bacteraemias in the infections database suggests this estimate is unreliable. Future research should utilise data from the microbiology laboratory as the primary data source for analysis of bacteraemias.
Title: The influence of anaesthetic method on outcomes of preterm infants delivered by caesarean section in a tertiary hospital in South Africa: a pilot review
Authors: R Stander, L Tooke, AR Horn
Objectives:
Delivery of preterm infants by caesarean section (CS) is associated with an elevated risk for morbidity and mortality due to the associated intra-partum emergencies, fetal distress, maternal medication and early delivery due to maternal illness. However, the influence of the method of anaesthesia on this group is contentious. The objectives of this study were to describe the indications for CS and the methods of anaesthesia in a cohort of preterm infants; to identify a uniform subgroup for whom we could compare outcomes vs. anesthetic type; and to describe the need for resuscitation and related short term outcomes in the above subgroup, comparing spinal anaesthesia (SA) to general anaesthesia (GA).
Methods:
We carried out a retrospective, descriptive, cohort study at Groote Schuur Hospital, Cape Town, South Africa. Data was collected on infants born between 1 January and 30 Sep 2014. All preterm infants born at 28 – 35 wks gestation, delivered by CS were eligible for inclusion. Infants with missing data for method of anaesthesia and/or indication for CS were excluded. Indications for CS and type of anaesthesia were obtained from the theatre register. The largest group of infants with similar indications for delivery were identified from the theatre register. Baseline characteristics and short term outcomes for this group were extracted from an existing prospective data base of all infants ≤ 1500g who are born at Groote Schuur Hospital (GSH) (The data base is collected as part of the international Vermont Oxford Data Base). The characteristics and outcomes of infants delivered by SA were compared with those delivered by GA
Results:
There were a total of 249 caesarean sections for preterm infants; data on mode of anaesthesia or indication for CS were missing in 23 infants. Of the remaining 226 preterm caesarean sections; 56 (24%) were delivered via GA and the majority 170 (75%) were delivered under SA. Abnormal CTG, was the commonest indication for CS irrespective of mode of anaesthesia, occurring in 150 (66%) infants; it included diagnoses of fetal distress, fetal compromise, fetal bradycardia, non-re-assuring CTG.
The subgroup of 150 infants delivered for the primary indication of abnormal CTG were studied further: of these, 26 (17%) were delivered under GA and 124 (83%) under SA. There was no difference in mortality between the groups. The median (IQR) Apgar scores at 1 and 5 Minutes in the GA group were 3(2-5) and 7(5-8) compared to 6(4-8) and 9(8-10) in the SA group (p<0.001). Oxygen administration and endotracheal intubation were also significantly more frequent in the GA group (p=0.028 and p=0.002 respectively). These findings remained significant after excluding infants who were delivered for apruptio placenta or prolapsed cord.
Conclusion:
Abnormal CTG was the predominant indication for caesarean section in preterm infants at our institution and spinal anaesthesia for caesarean section is used most often. Preterm infants delivered by GA require more intensive resuscitation than those delivered by SA – a senior clinician should be present at these deliveries.
ETHICS APPROVAL NUMBER: 598/2015
Title: CLINICAL OUTCOME OF MLPA TESTING FOR INTELLECTUAL DISABILITY AT RED CROSS WAR MEMORIAL CHILDREN’S HOSPITAL GENETIC CLINIC
Authors: K. J. Fieggen, F Musoke, A. Esterhuizen, A. Wonkam
Affiliation: Division of Human Genetics, University of Cape Town, Cape Town, South Africa
Background:
Many children with intellectual disability (ID) in South Africa do not have an aetiological diagnosis which limits the ability to provide accurate prognosis and genetic counselling. Copy number variation has been shown to significantly contribute to the cause of ID. Targeted MLPA testing for Copy Number Variation was introduced in 2013 in the paediatric genetic clinic at Red Cross War memorial Children’s Hospital (RCWMCH) in South Africa.
Objectives:
To review the number of patients tested using MLPA testing in DD/ID patients in the paediatric genetic clinic at Red Cross War Memorial Children’s Hospital
To document the positive findings and their clinical correlation
To compare the clinical features of patients testing positive with a control group of those testing negative
To make recommendations that could guide future testing for CNVs in this patient population in our resource constrained environment
Methods:
Retrospective review of the GSH NHLS laboratory records to establish the numbers of patients with ID / DD referred from RCWMCH for microdeletion / subtelomeric testing from December 2012 to April 2015
Further analysis of the clinical records of all those patients testing positive (n=19) as well as a randomly selected control group of patients testing negative (n=22)
Results:
132 patients had testing with either the MLPA microdeletion or subtelomeric kits or both
19 of the patients tested positive (14.4%) and 2 had findings of uncertain significance
Specific results and clinical findings to be discussed.
No significant difference in clinical presentation between those testing positive and those testing negative
Conclusions:
Significant detection rate of 14% in this selected group of patients with ID allowing for better management of patients and their families. Findings suggest appropriate selection criteria which can be incorporated in future testing guidelines.
Title: FREQUENCY OF SELECTED SNPS ASSOCIATED WITH KIDNEY DISEASE AMONGST SICKLE CELL DISEASE PATIENTS IN AFRICA
Authors: Amy Geard1, Gift Pule1, Professor Ambroise Wonkam1
Affiliation: ¹Division of Human Genetics, Department of Clinical Laboratory Sciences, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa
Background:
Sickle Cell Disease (SCD) is highly prevalent in Africa, with kidney disease being considered a proxy of severity. Kidney disease has been shown to be associated with specific genetic modifiers, however these have not been investigated among SCD patients in Africa, or associated other genetic modifiers such as fetal haemoglobin (HbF).
Objectives:
We have investigated the frequency of selected single nucleotide polymorphisms (SNPs) that are associated with kidney disease in SCD patients and the association to genetic predispositions to other disease modifiers, such as HbF.
Methods:
A patient cohort of 426 Cameroonian SCD patients of various ages were genotyped for 9 targeted SNPs associated with kidney disease. This was done using PCR, SNaPshot and Sanger sequencing for validation. Age-related frequencies of these SNPs were analyzed with various regression models using R, accounting for gender, alpha-thalassemia genotype and foetal haemoglobin-promoting loci. The enrichment of particular SNPs associated with reported clinical phenotypes was assessed.
Results:
The frequencies of the genotypes for seven of the nine SNPs were similar to that reported in an African American SCD population. The minor allele frequency (MAF) of novel alleles in two SNPs (rs1557529 and rs73885319) were found to be 0.281 (G) and 0.276 (A), respectively, which differs to those results found in the African American population. Statistical analyses are currently underway using linear regression models to determine the relationship between these SNPs and kidney disease, as well as other genetic modifiers.
Conclusion:
These preliminary results indicate that the MAF’s of specific SNPs differ in the African SCD patient population compared to those of African American descent. This may affect the relation of these SNPs to the risk of kidney disease development, possibly contributing to the development of a panel of biological markers, which can predict the occurrence of kidney disease in African SCD patients in order to better inform disease management and preventative treatment measures.
Corresponding authors: A/Professor Ambroise Wonkam, Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Anzio Road, Observatory, 7925, Cape Town, Republic of South Africa. Tel: +27214066307; Fax: +27214066826 e-mail: ambroise.wonkam@uct.ac.za
Ethics: HREC/REF: 507/2013 and the National Ethical Committee Ministry of Public Health,
Republic of Cameroon (No 033/CNE/DNM/07).
1st presenter (AG): Honours student (Division of Human Genetics)
Title: Identification of genetic features underlying a rare childhood cancer syndrome: Constitutional Mismatch Repair Deficiency (CMMR-D) syndrome
Authors: Lindiwe Lamola1, Alvera Vorster1, Morne du Plessis1, Ursula Algar2, Paul Goldberg2, Karen Fieggen1, Helen Wainwright3, Raj Ramesar1
Affiliation: 1MRC Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Disease and Molecular Medicine, 2 Surgical Gastroenterology Unit, Department of Surgery, 3 Division of Anatomical Pathology, University of Cape Town and Affiliated Hospitals, Cape Town, South Africa
Introduction:
Childhood cancers account for ~10% of all reported cancers worldwide. In developing countries, childhood cancers have low survival rate attributed to ineffective diagnosis, treatment and presence of co-morbid diseases. In addition, the factors associated with initiation and progression of these cancers is not well understood, which also impacts on the survival. This report focuses on a rare cancer disorder, Constitutional Mismatch Repair Deficiency (CMMR-D) syndrome, which develops due to inherited germline DNA mismatch repair gene mutations. The presence of these mutations affects the functioning of the mismatch repair (MMR) activity, resulting in an increased predisposition to a range of cancers, most commonly brain and hematological tumours in early childhood. The proband in this study is a four-year-old diagnosed with CMMR-D syndrome, who had subsequently demised due to a grade IV astrocytoma in the brainstem. The aim of this study is to identify the genetic factors underlying the development of cancers of the MMR deficiency syndrome.
Methods and Results:
Whole exome sequencing was performed on the CMMR-D case as well as the immediate family. The sequencing analysis was performed and functional annotation of all variants was determined. There were about 26000 variants observed for each individual, ~ 900 unique variants were found in the CMMR-D case versus ~700 in the related sibling. Preliminary data does not indicate any hotspots in terms of mutation accumulation. However, there is an observable difference in the type of variants accumulated by the CMMR-D case compared to the control.
Discussion:
Difference in the number of unique variants between the case and control makes for an interesting observation in contrast with a recent report. The results hint that the type of primary mutation and the MMR gene affected may have an observable impression on the rate of mutation. The ongoing part of the study plans to characterize these variants, genes and biological pathways they are involved in. Since this syndrome has a diverse presentation, there are difficulties in developing guidelines to manage individuals at risk. This study will add to the understanding of disease and contribute to improving surveillance by determining biological markers, which may be used to monitor the cancer initiation and progression for both inherited and sporadic childhood cancers.
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