Masters Degrees (Paediatrics and Child Health)

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    Clinical and radiological correlation in congenital hypopituitarism - a retrospective study
    (Stellenbosch : Stellenbosch University, 2024-02) Myburgh, Chantelle; Zollner, Ekkehard; Grantham, Michelle; Stellenbosch University. Faculty of Medicine and Health Sciences. Dept. of Paediatrics and Child Health.
    ENGLISH ABSTRACT: Background: Congenital hypopituitarism can present with either an isolated pituitary hormone deficiency or multiple pituitary hormone deficiencies. This can either be caused by abnormal development of the pituitary gland (for example anterior pituitary hypoplasia, absent or interrupted pituitary stalk, ectopic posterior pituitary gland) or an abnormality or disease process involving the hypothalamus (for example holoprosencephaly, corpus callosum agenesis).1,2 Structural abnormalities of the hypothalamic-pituitary axis are observed in these patients, with magnetic resonance imaging (MRI) being the modality of choice.3 Multiple studies have shown a stronger association between multiple pituitary hormone deficiencies (MPHD) and structural abnormalities observed on MRI when compared to isolated growth hormone (GH deficiency). There has also been a correlation seen between severe GH deficiency and the number of radiological abnormalities detected.8-10,23,25 An ideal paediatric MRI pituitary protocol should include T1-weighted sagittal plane, before and after contrast, T1-weighted coronal plane, before and after contrast, a T2-weighted coronal plane, as well as a T2-weighted axial plane.3 These image slices should ideally be 1,5mm slices thick.3,5 At Tygerberg Hospital (TBH) an adult pituitary protocol is being followed, which includes all the same planes as the ideal paediatric protocol. The only difference is that the TBH protocol does not specify the slice thickness. Primary objectives: • To identify all the paediatric and adolescent patients, known with congenital hypopituitarism, at the Paediatric Endocrine unit of TBH in South Africa, over a 12-year period (01/08/2007 - 21/12/2019); • to describe the type and number of hormone deficiencies in each patient; • to identify their clinical presentation; • to document the structural brain abnormalities related to the hypothalamic-pituitary axis on the MRI reports. Secondary objective: • To review whether a recommended MRI protocol was followed at the Radiology Department of TBH when imaging was conducted for patients with congenital hypopituitarism; 5 • to describe the level of expertise of the radiologist reporting the scan. Methods: A retrospective, descriptive study was done at TBH. The inclusion criteria were all paediatric and adolescent patients with congenital hypopituitarism diagnosed by the Paediatric Endocrine Unit, over a 12-year period (01/08/2007 -31/12/2019) who had an MRI of the pituitary region done. Data was collected from Enterprise Content Management (ECM) and Electronic Continuity of Care (ECCR) notes, as well as from endocrine duplicate folders. IgF-1, IgFBP-3, and growth hormone (GH) stimulation tests with clonidine and glucagon were done to determine the presence of GH deficiency. The cut off used was GH peak < 3µg/L peak value with stimulation testing), 7 had pituitary stalk abnormalities, compared to none in those with non-severe GH deficiency (p = 0,052). A high percentage of patients with severe GH deficiency (62,5%) had an abnormal MRI, compared to those with non-severe GH deficiency (16,7%), with a p value of 0,127. Twenty-three (67,6%) of the MRIs done followed an ideal MRI protocol. Thirty-one (91,0%) MRIs were done with gadolinium and twenty-six (76,5%) had the correct image slice thickness. Seven (20,6%) MRIs were done in infancy, 16 (47,1%) in pre-school age and 11 (32,4%) in school-going children. Twenty-six (76,5%) MRIs were requested by the paediatric endocrine unit, two by ophthalmology, two by neonatology and two by general paediatrics. Genetics and neurology both requested one of the MRIs. One MRI was reported by a neuroradiologist, and 33 by general radiologists, of which 5/33 were reported by consultants with a special interest in neurology. Conclusion: Based on the study only non-pituitary structural abnormalities appear to be predictive of MPHD. Due to the small sample size, neither MPHD nor the severity of GH deficiency seem to be associated with midline structural abnormalities. Irrespective of the above limitations, the results do suggest that EPP, pituitary stalk abnormalities and a triad could be predictive of MPHD; this would need to be confirmed with a larger study. Similarly, pituitary stalk abnormalities may be associated with severe GH deficiency. Confirmed GH deficiency was present in about three quarters of all the patients of the study, with ACTH deficiency and GH deficiency being the most common deficiencies seen in those with MPHD, followed by TSH deficiency and then ADH deficiency. Patients with severe GH deficiency had a high frequency of structural abnormalities compared to those with non-severe GH deficiency. MPHD were more common than IPHD in patients with congenital hypopituitarism. The risk of developing ADH deficiency and TSH deficiency in the absence of a posterior pituitary bright spot were significant, compared to those without an absent posterior pituitary bright spot. In patients with pituitary stalk abnormalities a higher risk of TSH deficiency was seen compared to those without stalk abnormalities. The risk of TSH deficiency was also high in patients with EPP and a triad, with the risk of developing central diabetes insipidus also being high in patients with EPP. Only two thirds of the patients had a correct MRI pituitary protocol, with many different general radiologists, in most cases, reporting MRIs. A prospective study with a bigger sample size, as well as thorough documentation of birth history, clinical presentation and laboratory tests is recommended. Testing for mutations and single nucleotide 8 polymorphisms (SNPs) of genes such as HESX1, SOX2, LHX4, and ROBO1 may be helpful to confirm possible associations. The current MRI pituitary protocol should include correct slice thickness, as well as measurements of the anterior pituitary gland. It is also recommended to have one or two dedicated consultants, preferably a paediatric radiologist or neuro-radiologist, reporting all paediatric MRIs of the hypothalamic-pituitary axis to ensure consistency.
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    Wrap and cap: prevention of admission hypothermia in very low birth weight infants in a resource restricted hospital: a pilot study.
    (Stellenbosch : Stellenbosch University, 2023-11) Jones, Thomas Ryan; Kali, Gugu; Van Wyk, Lizelle; Stellenbosch University. Faculty of Medicine and Health Sciences. Dept. of Paediatrics and Child Health.
    ENGLISH ABSTRACT: Background: Neonatal hypothermia is both common, and a significant contributor to morbidity and mortality in very low birth weight (VLBW) infants. The objective of this pilot study was to determine if a new “wrap and cap” protocol would be able to ensure normothermia (36.5◦C-37.5◦C) in VLBW infants upon admission. Materials and methods: This was a prospective cohort study involving the introduction of a “wrap and cap” protocol for post-delivery thermoregulatory care in VLBW infants born in a tertiary centre in the Western Cape, South Africa. The “wrap and cap” protocol involved the use of plastic bags and woollen hats. Axillary temperatures were recorded post-resuscitation, on admission to the admission ward, and at 1 hour of age. Ambient delivery and admission room temperatures were recorded for each infant. The prevalence of admission hypothermia was calculated as well as risk factors for admission hypothermia. Results: A total of 53 VLBW infants were enrolled. The “wrap and cap” protocol was unable to prevent admission hypothermia with all infants being hypothermic on admission, and 83% of infants remaining hypothermic at 1 hour of age. Important contributing factors included the use of antenatal corticosteroids (OR = 3.45; p = 0.023), low delivery room temperatures (OR = 4.0; p = 0.065), and male sex (OR = 3.75; p = 0.080). Conclusion: Admission hypothermia in the VLBW infants remains highly prevalent. The Wrap and Cap protocol was unable to increase admission normothermia due to low delivery room temperatures and faulty equipment.
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    Clinical utility of next-generation sequencing in children with cryptogenic cerebral palsy; a cohort study from a tertiary paediatric neurology clinic in the Western Cape Province of South Africa
    (Stellenbosch : Stellenbosch University, 2023-11) Mohammed, Hiba Hamid Ahmed; Van Toorn, Ronald; Solomons, Regan; Stellenbosch University. Faculty of Medicine and Health Sciences. Dept. of Paediatrics and Child Health. Paediatric Neurology.
    ENGLISH ABSTRACT: Introduction: Cerebral palsy (CP) is the most common motor disability in childhood. Both genetic and environmental factors contribute to the aetiology of CP. Recent advances in molecular genetics such as next generation sequencing (NGS) and whole exome sequencing (WES) have revolutionized the understanding of aetiology by more precisely classifying these disorders with a molecular cause. This study aimed to determine the clinical utility of NGS/WES in children with cryptogenic CP. Methods: Data was collected from 218 consecutive children with CP aged 3.6-10.5 years, referred over an 18-month period, to the tertiary paediatric neurology service at Tygerberg Academic Hospital. Results: Cryptogenic CP cases accounted for 24.3% (53/218) of cases. NGS/WES was performed in 66% (35/53). Pathogenic/likely pathogenic variants were identified in 37.2% (13/35) within the following genes: ATP1A3, SCN2A, ATM, FOXG1, UBE3A, KCNA2, ADAR1, QDPR, GCDH, SAMHD1, PLP1 duplication and SLC16A2. Cryptogenic CP cases were more likely to exhibit dyskinetic (odds ratio (OR)= 2.86; P-value=0.01; 95% CI=1.34-6.11) or hypotonic (OR =24.96; P-value=0.01; 95% CI=2.99-208.05) phenotypes, and less likely present with seizures (OR=0.23, P-value=0.01; 95% CI=0.11-0.46). Conclusion: The high rate of detecting causative genetic variants in the study, 37.2%, suggests that NGS/WES should be considered as first-line investigations in children with cryptogenic CP, especially those with dyskinetic or hypotonic subtypes and normal or non-specific MRI findings.
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    Respiratory management of low birth weight neonates with respiratory distress in rural district and regional hospitals in the Western Cape during 2019
    (Stellenbosch : Stellenbosch University, 2023-11) Read, Jo-Mari; Slogrove, Amy; Engelbrecht, Arnold; Stellenbosch University. Faculty of Medicine and Health Sciences. Dept. of Paediatrics and Child Health.
    ENGLISH ABSTRACT: Background Respiratory distress in low birth weight (LBW; <2500g) neonates is associated with prolonged morbidity and high mortality. Neonatal transport to specialized facilities can lead to complications and increased mortality. Improving care for LBW neonates with respiratory distress at district and regional hospitals and avoiding transport to specialized centres, may improve South Africa's neonatal mortality rate. Objectives This study aimed to compare the respiratory care received by LBW neonates in three rural Western Cape hospitals during 2019, to assess adherence to recommendations and to describe the outcomes. Methods A retrospective cohort study was conducted including LBW neonates with signs of respiratory distress within the first 24 hours of life born in 2019 at three rural hospitals. Neonates were categorised into mutually-exclusive groups: regional (all care at regional hospital), district (all care at district hospital) and transferred (transferred from district to regional hospital). Respiratory management was assessed according to the Western Cape Provincial Peri-viability Decision Support Framework, utilising the Downe score to classify severity of respiratory distress upon admission. The proportion (95% confidence interval) receiving recommended respiratory care was compared between groups. Results Among 210 included neonates, 145 (69%) were in the regional group, 53 (25%) in the district group and 12 (6%) in the transferred group. A total of 197 (94%) neonates received respiratory support as recommended or more with no significant difference between the groups. There was a higher proportion of neonates with moderate or severe distress in the regional (61/145;42%) compared to the district group (18/53;34%). Escalation of respiratory support occurred more frequently in the district (N=8/53;15%) compared to the regional group(N=12/145;8%). Neonates at regional level received a longer period of respiratory support (median 36.5 hours; IQR 13.5-82.5 hours) compared to district level (median 21 hours; IQR 9-48 hours). Specialized interventions were more prevalent at the regional level, with surfactant administration to 35/145 (24%) neonates compared to 4/53 (8%) at district level. However, there was no meaningful difference in mortality between the regional and district groups Conclusion Reassuringly 94% of neonates in rural Western Cape received respiratory support as recommended or more. While the regional hospital cared for neonates with more severe respiratory distress, requiring longer respiratory support and more specialized interventions, no difference in mortality between the regional and district level was observed which requires further investigation.
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    Hypernatraemic dehydration in children with acute gastroenteritis requiring intensive care in a tertiary hospital, Cape Town, South Africa.
    (Stellenbosch : Stellenbosch University, 2023-11) Abu-Hajer, Hasan; Parker, Noor; Smit, Liezl; Stellenbosch University. Faculty of Medicine and Health Sciences. Dept. of Paediatrics and Child Health.
    ENGLISH ABSTRACT: Background: Limited data is available on the management and outcome of hypernatremia as complication of acute gastro-enteritis (AGE) in children requiring paediatric intensive care in the developing world, and Africa in particular. Objectives: To describe the proportion, management, morbidity and mortality of children admitted with AGE, and hypernatraemia, to the paediatric intensive care unit (PICU) at Tygerberg Hospital, South Africa. Methods: This is a retrospective descriptive study from 1 January 2015 to 31 December 2020. Data were obtained from the intensive care unit data base, the National Health Laboratory Services and hospital electronic patient records. Demographic-, clinical-, and laboratory data, with complication events and mortality were determined. Results: There were 251 admissions of children with AGE, a proportion, of 5.9%; with 195 included in the final data analysis. Hypernatraemia was recorded in 47.2% (92/195) of AGE admissions; these infants had a median age of 5 months, 76% (70/92) had normal weights for age on admission and 6% (6/92) were HIV infected. The median sodium (Na) on admission was 159 mmol/L (IQR 150-168), improving to a median of 147 mmol/L (IQR 142-152) after 48 hours of admission. The acidosis improved significantly within 48 hrs of admission (p<0.001). Seizures, hypocalcaemia, and hyperglycaemia were more common in the group with hypernatraemic dehydration. The majority (84%, 65/77) of hypernatraemic dehydration patients were managed with a chloride free solution during the first 24 hours of admission and two thirds (67%, 48/71) required intubation and ventilation before transfer to the PICU. Most children with AGE were referred from another hospital (79%, 154/195). Most children presented initially with severe dehydration (97%, 190/195) and shock (89%,174/195); half (49%, 96/195) were still shocked on admission to PICU. Overall, the mortality rate in children admitted with acute gastro-enteritis was 7.2% (14/195); it was 4.3% (4/92) in the hypernatremic, 5.7% (4/69) in the isonatremic, and 17.6% (6/34) in the hyponatraemic dehydration groups. All patients who died (100%, 14/14) required intubation and ventilation before transfer, with a third (36%, 5/14) having coinciding sepsis with a positive blood culture. Most deaths in the hypernatraemic and isonatraemic dehydration groups occurred within the first 2 days of admission, with deaths in the hyponatraemic group occurring later. Conclusion: Complicated AGE remains a significant contributing factor to child morbidity and mortality in South Africa irrespective of the blood sodium level, but hypernatremia was not the major contributor as expected from the literature. Infants younger than 1 year of age, those with underlying malnutrition and sepsis, and those requiring intubation and ventilation at the referring facility may be at highest risk of death.