Browsing by Author "Donald, Kirsten"
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- ItemOpen AccessA retrospective description of primary immunodeficiency diseases at Red Cross War Memorial Children's Hospital, Cape Town, South Africa, 1975-2017(2023) Moodley, Sashmi; Donald, KirstenBackground: Even in the absence of global threat, children with disabilities were underrepresented in monitoring efforts and were less likely to have been included in response strategies during the COVID - 19 pandemic. The harmful effects of the pandemic were expected to be most damaging for those in the poorest countries. Objectives: Our study aimed to report the impact of the COVID-19 pandemic on families of children with disabling conditions in South Africa. Methods: Parents from an online parent network, initiated by Shonaquip Social Enterprise during the pandemic, were invited to participate in an online survey in October 2021. A quantitative analysis was conducted using Stata Statistical Software. Results: Sixty-eight (17%) of 400 parents in the network, completed the survey, 89% were mothers. Children aged 5-12 years represented 43% of the group. Eleven parents (16%) reported child health worsening compared to before the pandemic. Parent concerns included practicalities of infection control measures for their children and concerns about caregivers falling ill. Six (9%) children contracted COVID-19 infection and two (3%) children demised. Few families received telephonic contact from health providers. Indirect effects of the pandemic included loss of income and food shortages in more than half of the families. Twentytwo( 32%) families had opted not to send their children back to school even by the third wave of infections. Some positive experiences of lockdown reported by parents included more family time and the opportunity to reach out to other families, however 33 (49%) parents reported being highly stressed, with five (7%) revealing a need for substances to cope. Most parents (n = 50, 74%) reported feeling that care for children with disabilities was not prioritized in South Africa. Conclusion: This is one of the few studies in South Africa that explored childhood disability during the pandemic. A proportion of caregivers reported deterioration in their children's health during a time of limited access to health services. They have reported loss of family income, reduced access to educational services and challenges to mental health of caregivers. Families did not feel supported. Including the voices of parents highlight a range of challenges that need greater awareness. Post-pandemic, much change in practice is needed for families and children with disabilities.
- ItemOpen AccessClinical profile of children with Autism Spectrum Disorder in a developmental clinic in Western Cape(2023) Mudawarima, Louisa; Petersen, Reneva; Donald, KirstenClinical profile of children with Autism Spectrum Disorder in a developmental clinic in Western Cape Abstract Introduction Autism Spectrum Disorder (ASD) is increasingly being recognised as a significant neurodevelopmental condition in African countries. There is some evidence to suggest that the children who present with ASD in Africa may be diagnosed late and have a more severe clinical picture. The purpose of this study was to describe the clinical profile of children with ASD in the neurodevelopmental clinic at Red Cross War Memorial Children's Hospital in Western Cape Province South Africa. Methods We sampled patients with a previous or new diagnosis who attended our clinic during the period January to July 2017. Consenting participants were administered a questionnaire with sociodemographic and clinical questions, clinical details of medical and developmental diagnosis were extracted from medical records and children. were further assessed using the Autism Diagnostic Observation Schedule version 2 (ADOS-2). Results A total of 32 patients were recruited into the study with 26 out of 32 (81%) being boys. On assessment as part of the study, all participants met DSM 5 criteria for the diagnosis of ASD. Most participants (94%) had not experienced general developmental regression but a substantial proportion (39%) had reported early regression of language milestones. Almost half of participants (48%) had self-injurious behaviour reported, 25% had associated motor difficulty and 10% comorbid epilepsy. More than half of participants (53%) required substantial support in day-to-day activities. Most participants (81%) were administered module 1 of the ADOS-2 reflecting the high proportion of children in the sample who were either preverbal or using only single words. Conclusions Children seen in this clinical sample reflected the more severe end of the autism spectrum with a significant proportion having associated comorbidities such as epilepsy, and motor difficulties. The phenotypic profile on the ADOS 2 in this study correlated well with clinical assessments.
- ItemOpen AccessEvaluating the Psychometric Properties of Neurodevelopmental Assessment Tools in a South African Context(2021) Zieff, Michal R; Donald, Kirsten; Hoogenhout, MichelleNeurodevelopmental and behavioural tools, used to assess children's cognitive and psychological development, play important supportive roles in clinical decision-making processes. It is therefore important that inferences made based on the information generated by these tools are valid and reliable. Because validity and reliability are inextricably tied to the context in which the tool is administered, it is critical that tools, including established “gold standard” tools, undergo ongoing psychometric evaluation. This is particularly important when tools are used in contexts different to that in which the original tool was developed. The use of poorly performing measures in clinical settings may result in a higher risk of misinterpretation of results or misdiagnosis, carrying serious implications for provision of interventions. This dissertation explored the psychometric properties of two frequently used behavioural tools in a South African context. The first aim of the dissertation was to investigate the use, cultural appropriateness, and psychometric soundness of Achenbach System of Empirically Based Assessment (ASEBA) forms in sub-Saharan Africa. The ASEBA forms are used worldwide to screen children and adolescents for behavioural and emotional problems. To achieve this aim, I conducted a systematic review of the psychometric properties of the ASEBA forms in sub-Saharan Africa. The second aim was to evaluate the structural and construct validity of a commonly used measure of AttentionDeficit/Hyperactivity Disorder (ADHD), the Swanson, Nolan, and Pelham ADHD Rating Scale (SNAP-IV), in a sample of South African children with neurodevelopmental disorders (NDDs), including Autism Spectrum Disorder and Intellectual Disability. The systematic review identified 58 studies with sub-Saharan African participants that reported measurement properties of the ASEBA forms. Most studies came from Southern (n = 29, 50%) or East African (n = 25, 43%) countries. Forty-nine studies (84%) used translated versions of the tool, but details regarding the translation process, if available, were often sparse. Most studies (n = 47, 81%) only reported internal consistency (using coefficient alpha) for one or more subscales. The methodological quality of the psychometric evaluations varied considerably across all measurement properties, except for internal consistency. There is limited good quality psychometric evidence available for the ASEBA forms in sub-Saharan Africa. Recommendations include implementing a standardised procedure for conducting and reporting translation processes and conducting more comprehensive psychometric evaluations of the translated versions of the tools. Parents of 109 children with one or more diagnosed NDDs completed the SNAP-IV. A subset of parents (n = 79) also completed the ASEBA Child Behaviour Checklist (CBCL/6-18). We conducted a confirmatory factor analysis to inspect the two-factor structure of the SNAP-IV (Inattention + Hyperactivity-Impulsivity). We also calculated ordinal coefficient alpha (α) to estimate internal consistency. Finally, we correlated scores of SNAP-IV and CBCL/6-18 subscales to estimate concurrent, convergent (ADHD + externalizing behaviour), and discriminant (ADHD + internalizing behaviour) validity respectively. The two-factor model performed acceptably (χ2 (134) = 249.82, p < 0.001, TLI = 0.868, RMSEA = 0.089, p < 0.001). The model fit improved after removing three problematic items, two of which were dependent on the child's level of spoken language (χ2 (89) = 135.17, p < 0.01, TLI = 0.942, RMSEA = 0.069, p = 0.096). The revised SNAP-IV subscales had acceptable internal consistencies (α = 0.85-0.86). Correlation coefficients between the SNAP-IV and ADHD-related CBCL/6-18 subscales were significant (r = 0.53- 0.62, p < 0.001). Correlations between ADHD and externalizing behaviours (r = 0.45, p < 0.001) and internalizing behaviours (r = 0.38, p < 0.001) respectively were not significantly different (z = 0.97, p = 0.165). The findings tentatively support the use of the SNAP-IV in this group of children. However, there are limitations to its performance in this population likely related to the presence of NDDs. Taken together, the findings of these two studies highlight the need for clinicians and researchers to conduct ongoing psychometric testing of behavioural tools for use with linguistically and culturally diverse sub-Saharan African populations. The data also reveal important insights regarding problems associated with using standard behavioural tools in children with complex clinical presentations.
- ItemOpen AccessHealth service utilization patterns by preschool children with autism spectrum disorder compared to those with global developmental delay at a tertiary centre in South Africa(2020) Oringe, Florence Nafula; Donald, KirstenBackground Children with autism spectrum disorder (ASD) and those with global developmental delays (GDD) have complex health care needs that span long periods. Affected families in low resourced countries face substantial barriers in accessing care. Challenging behaviours in children with ASDs further complicates their service encounters and may result in forgone care, resulting in poor outcomes. Aim The aim of the study was to compare health service use (HSU) by preschool children with ASD and GDD attending developmental services at a tertiary hospital, and to explore the major factors impacting patterns of access. Methods A retrospective cohort study was done, where 240 children with ASD and GDD (Non -ASD) were enrolled at a ratio of 1:1. HSU was determined by a retrospective review of their medical records, in the preceding 1 year. A structured questionnaire administered sought information on socio-demographics, child characteristics, perspectives, family distress level, experiences, and level of service satisfaction. Descriptive statistics and logistic regression analysis were used to evaluate primary study questions. Ethical approval was obtained by the University of Cape Town Human Research Ethics Committee (HREC: 397/2019). Families gave informed consent prior to enrolment. Results A total of 240 children were enrolled,116 had ASD and 124 had GDD. Their median age was 5.2 years, and male: female ratio was 2:1. Higher co-occurring syndromic diagnoses were documented in GDD vs ASD at (46/124, 37.1% versus 14/116, 9.5%); (p<0.01) as well as higher comorbid diagnoses in GDD vs ASD at (51/124, 41.0% vs 14/116, 12.1%); (p=0.0001). A higher mean total health care visits was reported in those with GDD vs ASD (13.3 versus 11.5 (p=0.02), primarily due to higher specialist visits at 4.0 (2.0-5.5) vs 2.0 (2.0-3.0) (p<0.0001). Attendance for other services were similar in both groups, including therapy 6.0 (2.0-10.0), auxiliary services xiii 0 (0-1.0), emergency visits 1.0 (1.0-2.0), and primary care visits 0 (0-1.0). Respiratory infections (91/240;37.9%) and unspecified fever (57/240; 23.8%) were the leading reasons for emergency visits in this cohort. Hospitalization was higher among children with GDD (38/124, 31%) than ASD (16/116, 14%), p=0.02. Factors associated with higher HSU included primary diagnosis of GDD (p=0.02), female (vs male, average 1.59 more annual visits, p=0.04), being younger at first diagnosis (<2 vs ≥ 2 years, 1.72 more annual visits, p= 0.02), and having a concurrent syndromic diagnosis (vs none, 2.19 more annual visits, p=0.01). On logistic regression, controlling for these confounders, parental employment emerged as the strongest residual predictive factor for increased HSU (β 1.49, 95% CI -0.02 to 3.00, p=0.05). Conclusion: Children with GDD had greater service use than those with ASD, primarily due to higher specialist visits for their higher syndromic and comorbid diagnoses. Core therapy services were underutilized despite being key interventions in both groups. Parental employment, an enabling factor, predicted greater service use. This calls for systemic reduction in access costs to optimize care.
- ItemOpen AccessIs non-therapeutic aspirin use in children a problem in South Africa?(2011) Donald, Kirsten; Hall, Susan; Seaton, Cylene; Tanyanyiwa, DonaldBackground. Aspirin should not be used in children except for specific therapeutic reasons. We report on a severely ill infant who had ingested aspirin contained in a traditional medicine and review 21 other patients with pre-admission non-therapeutic salicylate exposure. Objectives and methods. We reviewed laboratory, clinical and poisons unit records to determine how many children were admitted to our hospital over an 18-month period with evidence of salicylate ingestion not prescribed for therapeutic reasons. We determined the source of the salicylate, elapsed time between ingestion and laboratory assay, morbidity and mortality and final diagnosis. Results. Twenty-one children meeting our criteria, including 9 under 6 months of age, were admitted during this period. The most prevalent source of salicylate was over-the-counter (OTC) aspirin, but some had reportedly only been given traditional medicines. Nineteen were seriously ill, 4 died and 3 had severe brain injury. Two, initially diagnosed with Reye’s syndrome, probably had inherited metabolic disorders. Only 2 patients had salicylate levels that at the time of measurement are normally considered toxic; however, the literature suggests that lower levels may exacerbate illness severity in young children. Conclusions. We found inappropriate use of OTC aspirin in children that requires explanation. There may be policy implications for the content and presentation of patient information; the incorporation of pharmaceuticals in traditional medicines merits further study. Salicylate toxicity should be considered in children with unexplained metabolic acidosis out of keeping with the severity of their acute illness.
- ItemOpen AccessMental health and cognitive outcomes associated with early childhood violence exposure: a focus on children in low-middle income countries (LMICs)(2024) Tsunga, Lucinda Panashe; Fraser, Abigail; Donald, Kirsten; Heron, JonKnowledge about the exposure patterns of violence among preschoolers in low- and middle income countries (LMICs) is still limited. Furthermore, little is known about the associations of violence exposure with mental health or cognitive functioning in this age group. This is important, given that children in LMICs experience a high burden of violence and therefore alongside policies to reduce violence exposure, understanding the impacts of violence can guide early interventions to mitigate its adverse effects. In my thesis, I conducted two systematic reviews synthesizing the evidence on the mental health and cognitive outcomes associated with violence exposure in children in LMICs and identifying key gaps in the current literature. I further, directly investigated the lifetime violence exposure patterns of preschoolers in the Drakenstein Child Health Study (DCHS) in South Africa and subsequently investigated associations between lifetime childhood violence exposure at 4.5 years and mental health and cognitive outcomes at 5 years in this cohort. Approximately 70% of the 17 reviewed studies from 20 LMICs found associations between violence exposure and poor cognitive outcomes in childhood, while all 58 reviewed studies from 26 LMICs found associations between violence exposure and mental health problems in childhood. In my own study in the DCHS, I found that 72% -75% of the children were reported as having been exposed to some form of domestic or community violence at a young age (3.5– 6 years). Overall violence exposure, domestic victimisation and witnessing community violence by 4.5 years was associated with increased internalising and externalising behaviours at age 5. Polyvictimisation was associated with increased externalising behaviours. Associations between witnessing domestic violence (or community victimisation) exposure alone with mental health were less robust. Lastly, there were associations between lifetime exposure to violence by 4.5 years and poor selective attention, receptive language, nonverbal intelligence and inhibition at 5 years. This thesis highlights the adverse consequences of violence exposure in early life for mental health and cognitive problems in preschoolers living in high violence contexts. Mental health and cognitive problems manifest at an early age and emphasize the need for interventions to reduce violence exposure and its consequences in young children in LMICs.
- ItemOpen AccessParental Perspectives Regarding the Return of Genomic Findings in NeuroDevelopmental Disorders – A South African Study(2020) Diedericks, Angelique; De, Vries Jantina; Donald, Kirsten; Laing, NakitaIntroduction: There is a lack of policies and research regarding the disclosure of results in genomic research, especially in South Africa. Challenges remain regarding the disclosure of genomic research results to research participants and their families, which may partly be addressed by considering parental and participants' preferences. This study serves as a sub-study to the NeuroDev study which is performing genotyping and exome sequencing on children with NeuroDevelopmental disorders in the Western Cape; and will investigate a feedback of findings method pertaining to the needs and preferences of the patient community. Aims: To investigate parents' understanding of the genomic research study they are participating in as well as their preferences regarding the feedback process and anticipated contributions of significant genetic findings generated by the NeuroDev study. This study further hopes to inform a tailored feedback policy reflecting the needs of this South African population. Research Design: A pragmatic qualitative approach was used by conducting 12 semi-structured interviews with 17 parents of children participating in the NeuroDev study. Purposive sampling was used, selecting retrospectively from patients recruited for the NeuroDev study in which findings of de novo, significant mutations are more likely expected. Interviews were conducted in English, in a private setting at Red Cross War Memorial Children's Hospital (RCWMCH), and were audio-recorded by the researcher; observations and field notes were documented. Generated data was analyzed using thematic analysis to generate themes and transcripts were imported into NVivo 12 to assist with managing and organizing the data for analysis. Ethical approval was been obtained from the University of Cape Town (UCT) (HREC 784/2018). Results: Empiric data collection ran from May to July 2019 and preliminary data was presented at the NeuroDev AGM and on a poster at the SASHG conference, RCWMCH research open day and UCT postgraduate research day. Findings were that the parents of the participants understood the study they were participating in as well as basic concepts of genetics, however, parental understanding over the cause of their child's condition remains a source of confusion when pertaining to their understanding of genetics being ‘passed down the family lineage' and how that integrates with de novo mutations. Furthermore, there is potential for it to impact on feelings of guilt. Parents have a need for information, discovering the cause of their child's condition and to be involved in the research process with full disclosure as events unfold. Altruism seems to be a major motivator for participating in genomics research but personal and family benefit also served to be a key driver in that research results could potentially provide awareness and information regarding their child's condition, the management thereof and recurrence risk in future. Participants in this study want pertinent research results which could offer closure, acceptance and relief, however, differences over the meaning of such results were observed between those whose child already had a diagnosis versus those whose child remained undiagnosed. Furthermore, receiving non-pertinent and negative result was still perceived to be meaningful for some. Further diversity was observed in parental preferences for the explanation of preliminary results. Discussion: Given that non-pertinent results still hold value for participants, consideration should be given as to more extensive ways of communicating this if such results are not to be returned since results are generally viewed as a point of access to information or relating to their child's condition. Diverse preferences regarding when and what participants want to know for results feedback needs to be addressed in order to facilitate a guidance framework for the delivery of genomic research results and can perhaps take the form of a tiered-consent model for feedback of incidental findings. As such, genetic counsellors may have a valuable role to play in facilitating participant satisfaction and bridging the gap between researchers and public expectations. Ethical considerations: Consent was taken before commencement of the study. There were no risks with regards to participating in this study and participants had the freedom to withdraw at any time and at their own discretion.
- ItemOpen AccessRegional neurometabolite trajectories and how they relate to neurocognitive(2023) Williams, Simone; Donald, Kirsten; Robertson FrancesIntroduction Since perinatal neurodevelopment forms the basis upon which optimal brain health and function are built, exposure to maternal HIV and/or antiretroviral therapy (ART) during in utero and/or early postnatal development may adversely affect functional brain development and subsequent neurological functioning, in children who are exposed to HIV and/or ART perinatally. Regional brain metabolite alterations have previously been linked to HIV exposure in both young and older children, however, it is not yet known whether neurometabolite profiles may be related to impaired functional neurodevelopment, often observed in children exposed to HIV and/or ART. This study thus explored regional brain metabolite concentrations in 6-year-old children who are HIV-exposed uninfected (CHEU) compared to children who are HIV-unexposed (CHU), and explored associations of neurometabolite profiles with functional neurodevelopmental outcomes in CHEU. Methodology At baseline a total of 1143 infants (from 1137 women) were included in the DCHS, 248 CHEU and 895 CHU (matched controls). A subset of 152 children enrolled in the DCHS had magnetic resonance spectroscopy data acquired at 6 years of age, 42 CHEU and 110 CHU . Absolute and relative brain metabolite concentrations were quantified from single voxels covering parietal grey matter (pgm) and right parietal white matter (pwm). Functional neurodevelopmental outcomes were also assessed at 6 years of age, using the Early Learning Outcome Measures (ELOM) tool. Neurometabolite concentrations between CHEU and CHU groups were compared using adjusted linear regression analysis. Underlying neurometabolic patterns based on MRS data were identified using factor analysis, and the relationship between neurometabolite patterns and HIV and/or ART exposure status was explored using logistic regression analysis. This study also used Pearson correlation analysis to explore the relationship between neurometabolite factors associated with HIV and/or ART exposure status, as well as individual neurometabolite concentrations, and ELOM subdomains in CHEU and CHU. Results After quality control, 138 and 109 usable MR spectra for pgm (98 CHU, 40 CHEU, 53% male) and pwm (84 CHU, 25 CHEU, 55% male) were available, respectively. CHEU were on average one month older than CHU, with age ranging from 69 to 81 months. All mothers of CHEU received ART. In pgm, both absolute and relative glutamate concentrations were significantly lower in CHEU compared to CHU, after adjusting for maternal alcohol use using pregnancy, child sex and child age at scan (p = 0.046 and p = 0.035 for absolute and relative glutamate respectively). Similarly, adjusted relative choline concentrations in pwm were also significantly lower in CHEU (p = 0.039). Factor analysis identified four underlying neurometabolite patterns from both relative and absolute MRS data. A pgm glutamate and myo-inositol dominated factor, identified from the relative MRS data, was associated with HIV and/or ART exposure status in unadjusted (OR 0.55, 95% CI 0.17 - 0.45, p = 0.013) and adjusted analyses (OR 0.59, 95% CI 0.35 - 0.94, p = 0.031 ). A significant correlation between the pgm glutamate and myo-inositol dominated factor associated with HIV exposure and ELOM gross motor development scores in CHEU (r = -0.48 , p= 0.044) was also observed. This association was not found to be statistically significant in CHU. Significant associations between individual neurometabolite concentrations and ELOM outcomes in CHEU and CHU were also found in this study. Discussion Reduced glutamate concentrations in parietal grey matter suggest regional alterations in excitatory glutamatergic transmission pathways in the context of perinatal HIV and/or ART exposure, while reduced choline concentrations in parietal white matter may suggest regional myelin loss. The ability to detect neurometabolite patterns in this study may suggest that brain metabolites are integrated and function together under specific physiological or pathological conditions. Furthermore, the identified association between the pgm glutamate and myoinositol pattern associated with HIV exposure and gross motor development outcomes, provides an understanding of a potential mechanism which may underlie adverse functional neurodevelopmental symptomology in CHEU.
- ItemOpen AccessReturning individual genetic results to research participants: experiences of stigma in South African families with neurodevelopmental disorders(2024) Chetty, Nolene Priscilla; Bruwer, Zandre; de Vries, Jantina; Donald, KirstenIn South Africa, there is little research about the experiences of stigma in parents or caregivers of children with a Neurodevelopmental Disorder (NDD). Likewise, the impact of genetic attribution on these experiences have not been extensively studied. The aim of this study was to explore the experiences of stigma of NeuroDev research participants and their families and how a positive genetic result influences/affects these experiences. To achieve this, the researcher looked at the experiences of parents or caregivers of NeuroDev research participants with stigma and the influence a positive genetic result may have on stigma experiences. The role of genetic counsellors in addressing instances of stigma in NDDs and genomics research was also considered. The study drew on an interpretive phenomenological approach (IPA) as this approach views individuals as “experiential experts” where researchers engage and interpret the meaning of experiences. This research was a sub-study to the NeuroDev study. The NeuroDev study aims to account for the lack of African genetic data of NDDs by exploring the phenotypic and genetic landscape of NDDs in South Africa and Kenya. Participants of the study included fathers, mothers or caregivers of children diagnosed with an NDD, who have voluntarily participated in the NeuroDev study and who have received a positive genetic result. This is a form of purposive sampling as participants were selected based on appropriateness for the aim and objectives of this study. Data collection and exploration involved semi-structured interviews with six participants to ensure that the data obtained was deeply associated with personal experiences, views and beliefs. Interviews were conducted at Red Cross War Memorial Children's Hospital or at the University of Cape Town between March 15th to April 14th 2023 and were audio-recorded. Interviews continued for 45-90 minutes so that the researcher obtained rich, meaningful data. Transcribed interviews were then analysed using an IPA-tailored thematic analysis flow to identify recurrent themes or patterns in the data. Findings show that participants experience public, associative and internalised stigma. It was further found that how a parent understands a diagnosis, the difficulty in raising a child with an NDD, and respective coping mechanisms affect how patients perceive a genetic result and, subsequently stigma. While a genetic result did not impact public stigma, some patients expressed that assigning meaning to a genetic cause impacts internalised stigma. Participants understanding of genetic counselling differed. Most expressed a lack of understanding of genetic counselling. Nonetheless, the genetic counselling session enhanced participants knowledge on NDDs, is patient-centred and impacted internalised stigma. It was expected that genetic counselling would have a greater impact on other forms of stigma, however, it was not seen in this study. This study forms a basis for future research to further elucidate experiences of stigma in parents or caregivers of children with NDDs and the role genetic counsellors may play in addressing this stigma and in genomics research in South Africa.