Paediatrics (RCH) - Theses
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ItemCardiovascular associations of HIV infection in children( 2015)Vertically-acquired HIV infection is a devastating disease in childhood that may affect any organ, including the cardiovascular system. With increased survival of HIV infected children due to antiretroviral (ART) treatment availability, chronic cardiovascular problems become a confronting challenge, not only because HIV infection may cause cardiac problems readily manifesting in childhood but also because it potentially increases future cardiovascular disease risk in adulthood. This thesis explores various possible cardiovascular effects of HIV infection in children, particularly the differential effects of ART-naïve compared to ART-exposed HIV infection on left ventricular (LV) remodelling, pulmonary hypertension, and arterial elasticity. We conducted a cross-sectional study enrolling 56 ART-naïve, 59 ART-exposed HIV infected, and 51 healthy children in Jakarta, Indonesia and performed cardiac/vascular ultrasound, and blood tests for biomarkers. There were marked differences in the cardiovascular parameters between the two groups. We found that ART-naïve HIV infection was associated with LV dilation while the ART-exposed seemed to cause concentric hypertrophic remodelling. ART-exposed HIV infected children who showed evidence of higher pulmonary artery pressure than healthy children, whereas the ART-naïve children had reduced right ventricular function. For arterial elasticity, the ART-naïve had higher strain and lower elastic modulus, but thicker intima-media thickness, whereas the ART-exposed had similar vascular properties as healthy children. In conclusion, HIV infection in children have significant impacts on childhood cardiovascular system with particular differential effects between ART-naïve and ART exposed HIV infection. Routine cardiovascular surveillance is needed for children with HIV infection.
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ItemScoliosis in children with cerebral palsy: a population based study( 2015)Introduction Scoliosis is the most common spinal deformity in children with cerebral palsy. Previous published studies have been based on institutionalised patients and not on a total population of individuals with cerebral palsy. Methods This study was based on both prospective and retrospective cross-section analysis of 292 children identified from the Victorian Cerebral Palsy Register. These children were spread across GMFCS levels I–V. The children were assessed during their transition clinic appointment prior to exit from the Royal Children’s Hospital. The research looked at three main sections: clinical review for scoliosis, radiographic assessment of scoliosis, and CHQ and CPCHILD questionnaires survey. Cobb angles were measured by two experienced observers. Results If a Cobb angle of more than 10° was used, then 40% of patients were classified with scoliosis. By changing the definition of scoliosis in cerebral palsy to a Cobb angle greater than 40°, the prevalence of “clinically important scoliosis” was 12.7%. The majority of the severe curves occurred in children at GMFCS levels IV and V. As the GMFCS level increased, the mean Cobb angle increased. The mean score for the questionnaires decreased as the GMFCS level increased. Conclusion The CP scoliosis and the scores for the questionnaire were closely related to the GMFCS levels. The prevalence of CP scoliosis is overestimated in other studies. Our study shows the prevalence of CP scoliosis is 12.7% using a Cobb angle of more than 40°. Non-ambulant children are at high risk of developing scoliosis and formal spine surveillance should be considered.
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ItemDefining the phenotype of a cohort of children with non-syndromic Pierre Robin Sequence( 2015)Background Pierre Robin Sequence (PRS) is a common craniofacial anomaly comprising of micrognathia, cleft palate, glossoptosis and upper airway obstruction. It is a condition which affects 1 in 6000 neonates, often resulting in airway and feeding difficulties. Although it is a well-known condition, many aspects about the diagnosis, aetiology and management of Pierre Robin Sequence are contentious or unknown. Specifically, the exact phenotypic spectrum of this condition has been poorly studied. The major aim of this Master of Surgery is to provide an accurate phenotypic characterisation of a large cohort of non-syndromic Pierre Robin Sequence patients. A retrospective review of diagnosis and management of this cohort was also performed, along with a preliminary investigation into the possible genetic aetiology of a subset of patients. Methods A cohort of 141 non-syndromic PRS patients managed at the Royal Children’s Hospital in Melbourne from 1985 to 2012 was identified by cross-referencing two clinical databases. A detailed review of each patient’s medical file was performed and patients were categorised into either “Isolated PRS” or “PRS-Plus” groups. A subset of patients with a family history of cleft and/or a musculoskeletal anomaly were selected for targeted DNA sequencing of the non-coding elements of SOX9 (chromosome 17), a potential candidate gene for non-syndromic PRS. Results Our cohort comprised 83 Isolated PRS patients and 58 PRS-Plus patients. In the PRS-Plus group, the most common malformations beyond the craniofacial region involved were the musculoskeletal and ocular systems, with choanal stenosis/atresia being the single most common coexisting condition. PRS-Plus patients were found to have worse outcomes at birth as well as during the neonatal period, with a higher proportion being born small-for-gestational-age, have failure to thrive and require surgical intervention for airway and feeding. No significant genetic mutations were identified in the non-coding elements of SOX9 in the subset of patients who had DNA sequencing. A single nucleotide substitution was identified in the GATA1 transcription factor binding site, however the functional significance of this variant is yet to be determined. Summary Pierre Robin Sequence is a phenotypically diverse condition which contains a wide spectrum of features far beyond what was initially described. The results of this study supports the existence of a “PRS Spectrum” ranging from the mildest isolated PRS patients to the more complex syndromic PRS patients. Patients with additional anomalies outside of the craniofacial system had poorer outcomes at birth and during the neonatal period. Further studies are required to determine whether these differences can be explained by underlying biological causes such as genetic mutations, or whether this is a result of inadequate initial management.