OpenUCT :: Browsing by Author "Fieggen, Karen"

Browsing by Author "Fieggen, Karen"

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Open Access
Approach to congenital disorders: referral pathways for genetic services in the Eastern Cape
(2024) Ntanjana, Sesethu; Wessels, Tina-Marié; Fieggen, Karen
Congenital disorders are defined as abnormalities of either a structural or functional nature. These abnormalities are present at birth; however, they may sometimes only be observed later in life. The underlying cause of congenital disorders can be attributed to genetics or, environmental effects or both, as well as unknown factors in some instances. These disorders are known to affect approximately 1 in 15 live births, yet, in South Africa they are underreported. The underrepresentation is partly due to the lack of skills and resources to successfully diagnose patients, therefore, contributing to the neonatal and infant mortality rate. When congenital disorders are not considered and correctly diagnosed, the implications for management and for recurrence risk in the family remains unclear. The burden of these disorders in low middle-income countries (LMIC) is underappreciated. Referral to genetic services aids in diagnosis, management, and the interpretation of the family history to ascertain the implications and recurrence risk of a disease. The aim of this study, therefore, is to explore the experiences and perceptions of health care professionals concerning the utility of genetic services for congenital disorders in rural Eastern Cape through a descriptive phenomenology approach. Methods: Qualitative research, drawing on principles of phenomenology was used as the study design. The sample for this study included healthcare professionals who were involved in the management of patients affected by congenital disorders. A research advertisement was disseminated with the assistance and permission from the hospital's management. Semi-structured face-to-face interviews with open-ended questions were used to collect the data and close-ended questions were used to obtain the demographic data. The interviews were recorded and transcribed verbatim. The data were analysed using a thematic data analysis approach. A total of 10 healthcare professionals were interviewed. Results: Four themes were identified in this study. These include “Challenges in rural healthcare”, “Service provision”, “Genetic counselling” and “Genetic awareness and education”. These themes often overlapped and could be described in three overarching ideas, namely logistic factors, human factors, and guidelines which illustrated the determinants of the approach to congenital disorders in rural areas. Discussion and Conclusion: The study highlighted the challenges that exist for patients outside urban areas such as the lack of access to healthcare facilities and genetic information. It highlights the lack of training and guidelines on congenital disorders as a hindrance to achieving optimal patient satisfaction. Empowering healthcare providers outside of tertiary hospitals is instrumental in improving health outcomes. The research participants stressed the importance of genetic awareness among healthcare professionals, as they need to be able to empower patients by sensitising them to the causes of congenital disorders, their genetic risks, and options. Finally, the results showed that the participants had a superficial understanding of genetic counselling, thus indicating the need for raising awareness about this profession among healthcare professionals.
Open Access
A clinical and molecular investigation of two families with Simpson-Golabi-Behmel syndrome
(2014) Pretorius, Careni Elizabeth; Fieggen, Karen; Beighton, Peter
Includes abstract (p. 30-32). Includes bibliographical references.
Open Access
Cohort Profile: The Western Cape Pregnancy Exposure Registry (WCPER)
(2022-06) Kalk, Emma; Heekes, Alexa; Slogrove, Amy; Phelanyane, Florence; Davies, Mary-Ann; Myer, Landon; Euvrard, Jonathan; Kroon, Max; Petro, Greg; Fieggen, Karen; Stewart, Chantal; Rhoda, Natasha; Gebhardt, Stefan; Osman, Ayesha; Anderson, Kim; Boulle, Andrew; Mehta, Ushma
Purpose: The Western Cape Pregnancy Exposure Registry (PER) was established at two public sector healthcare sentinel sites in the Western Cape province, South Africa, to provide ongoing surveillance of drug exposures in pregnancy and associations with pregnancy outcomes. Participants: Established in 2016, all women attending their first antenatal visit at primary care obstetric facilities were enrolled and followed to pregnancy outcome regardless of the site (ie, primary, secondary, tertiary facility). Routine operational obstetric and medical data are digitised from the clinical stationery at the healthcare facilities. Data collection has been integrated into existing services and information platforms and supports routine operations. The PER is situated within the Provincial Health Data Centre, an information exchange that harmonises and consolidates all health-related electronic data in the province. Data are contributed via linkage across a unique identifier. This relationship limits the missing data in the PER, allows validation and avoids misclassification in the population-level data set. Findings to date: Approximately 5000 and 3500 pregnant women enter the data set annually at the urban and rural sites, respectively. As of August 2021, >30 000 pregnancies have been recorded and outcomes have been determined for 93%. Analysis of key obstetric and neonatal health indicators derived from the PER are consistent with the aggregate data in the District Health Information System. Future plans: This represents significant infrastructure, able to address clinical and epidemiological concerns in a low/middle-income setting.
Open Access
Craniosynostosis in a South Africa population
(2021) Crous, Ilse; Fieggen, Karen
Background: Craniosynostosis refers to the premature fusion of calvarial bones which lead to restricted growth potential. Compensatory growth occurs in the dimensions not restricted by fusion and causes progressive distortion in the skull shape. The majority of craniosynostosis cases occur in isolation and are so called non-syndromic craniosynostosis. In about 30 % of all cases, anomalies are noted along with the craniosynostosis, often defining a described and recognised syndrome. The aim is to delineate the phenotype observed in a South African population. Methods: In this descriptive study, hospital records for the preceding five years were retrospectively reviewed to describe the profile of patients with craniosynostosis seen at the Red Cross War Memorial Children's Hospital in Cape Town. In addition to the retrospective review, a sub cohort of patients were prospectively phenotyped. The patients were subdivided into three groups namely: non-syndromic craniosynostosis, syndromic craniosynostosis and craniosynostosis with additional features. The last group included patients who had additional malformations or clinical findings without a syndromic diagnosis. The prevalence of phenotypic findings, teratogen exposure, birth complications, congenital malformations, surgical interventions and results of genetic testing in this cohort is described. Descriptive statistical analysis was used. Results: A total of 47 children with craniosynostosis were included in this study. Twenty-five individuals of the cohort were male, and one patient has a disorder of sexual development. Eighteen patients had non-syndromic synostosis. Twelve of these had sagittal type synostosis and five had metopic type synostosis with one unspecified. Thirteen had syndromic synostosis. Eight were clinically diagnosed with Crouzon syndrome of which three were molecularly confirmed. Four patients had Apert syndrome and one had Pfeiffer syndrome, these were clinically diagnosed without molecular confirmation. Sixteen patients had craniosynostosis with some additional findings but no syndromic diagnosis. The suture involved in the majority of patients was the sagittal suture. Ten patients had an additional structural brain abnormality and 13 had signs of raised intracranial pressure. The average age at confirmation of diagnosis of craniosynostosis by CT scan was 22.5 months (SD = 31.4, range: 0.1 – 140.9). Thirty of the 47 patients had craniosynostosis surgery. The average age of surgery was 22.4 months (SD = 19; range: 5-79). The anthropometric, phenotype and developmental features indicate that this is a highly heterogenous group of disorders. Conclusion: Craniosynostosis has been widely reported worldwide, especially in individuals of European descent with only a few reports on craniosynostosis in South African or African populations. Knowledge of the phenotypic spectrum will aid in understanding and documenting this group of disorders in our local population. This study also highlights that this is a complex condition best managed by a multidisciplinary team that should include a medical geneticist. The recognition of specific craniosynostosis syndromes together with appropriate molecular testing can be cost effective even in a limited resource setting and aid in accurate prognosis and recurrence risk information for families.
Open Access
Exploring the decision making process of women offered termination of pregnancy for serious congenital abnormality
(2018) Malope, Malebo Felicia; Wessels, Tina-Marié; Fieggen, Karen; Stewart, Chantal
Background: A weekly pregnancy counselling clinic is held in conjunction with foetal medicine experts at Groote Schuur Hospital for women with pregnancies complicated by foetal anomalies. In cases with poor prognoses, termination of pregnancy (TOP) may be offered. The women receive genetic counselling where the ultrasound findings, invasive testing and TOP options are discussed. Decision-making is the focus of these sessions. The experiences and decision-making processes of the women in this clinic are poorly understood, therefore this project aims to explore these women's experiences and what factors influence their decision-making regarding TOP. Methods: Qualitative research, drawing on principles of phenomenology was used as the study design. The sample for this study are women who had a prenatal diagnosis of a serious congenital abnormality and were offered TOP. The women were identified using the Division of Human Genetics pregnancy counselling database at the University of Cape Town in South Africa. Semistructured face-to-face interviews with open-ended questions were used to collect the data and close-ended questions were used to obtain the demographic data. The interviews were recorded and transcribed verbatim. The data were analysed using a thematic data analysis approach. A total of 12 women were interviewed. Results: Five themes were identified in this study. These include "Health care services", "Home", "Being a woman", "Finding meaning", and "The aftermath". The healthcare services impacted the manner in which the women made sense of the ultrasound findings. Support (or lack of) from family and the community impacted on their decision-making. Stigma attached to having a child with a disability and/or stigma against TOP and partner relationships played a role. The women questioned their role as a woman and obligations of child-bearing. Finding meaning for the event was important and this process continued until after the delivery or after the child was born. Following the event having a burial and giving away the child's clothes were found to play a significant role in their adjustment. Discussion and Conclusion: The decision-making process was multifaceted and unique to each woman. They consulted their families, partners and community but in the end they made the final decision. The women considered a multitude of factors but it seems that there may be one deciding factor. This in depth exploration of the women's experiences has provided valuable insight into the decision-making process, which can be used to improve the services offered to patients.
Open Access
Investigating the views and expectations of pregnant women who undergo genetic counselling for age-related risk of aneuploidy
(2020) Vorster, Nina; Wessels, Tina-Marie; Fieggen, Karen; Laing, Nakita
Background: Pregnancy at advanced maternal age (AMA) is associated with an increased risk of aneuploidy. In the Western Cape's public health sector maternal age alone is widely used to screen women for high risk of pregnancies affected by aneuploidy. The weekly pregnancy counselling clinic (PCC) at Groote Schuur Hospital (GSH) offers genetic counselling (GC) for women who are of AMA to inform them about their age-related aneuploidy risk, offer invasive diagnostic testing (IDT) and discuss the option of voluntary termination of an affected pregnancy. A recent audit at GSH showed that the uptake of IDT was low and other literature reports that South Africans tend to have a conservative view regarding termination of pregnancy (TOP). This study sought to understand what women expect from the GC service at PCC as well as what their experiences are of the service. Methods: This qualitative phenomenological study used a pragmatic approach and participants were recruited through purposive sampling. Semi-structured, in-person interviews were conducted after women had completed their GC sessions at PCC. Thematic analysis was used to analyse the data. Results: The results of this study suggest that participants (n=7) received very little information about their GC appointments at referring clinics, and that they generally did not have prior knowledge about age-related aneuploidy risks. Finding out about the age-related risk of aneuploidy was an emotional experience for the participants, but other factors, including normal ultrasound results, provided relief. The participants' choices regarding IDT and attitudes towards TOP reflected that of available literature as the uptake was low and most participants reported that they would not consider a TOP. The women reported that they would use the knowledge they gained during GC to educate other women in their communities about the pregnancy risks associated with increased maternal age. Generally, the participants believed that GC was useful and appreciated the opportunity. Conclusion: The participants in this study had limited health literacy and knowledge regarding AMA risks and GC. As a result, participants had no expectations of GC. However, the participants felt that GC was useful in helping them prepare for the possibility of a child with DS, and generally viewed the service in a positive light. Additionally, this study's results suggests that there is a need to educate women in local communities regarding AMA pregnancy risks.
Open Access
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome
(Biomed Central, 2015) Schlogel, Matthieu; Mendola, Antonella; Fastre, Elodie; Vasudevan, Pradeep; Devriendt, Koen; de Ravel, Thomy; Van Esch, Hilde; Casteels, Ingele; Arroyo Carrera, Ignacio; Cristofoli, Francesca; Fieggen, Karen; Jones, Katheryn; Lipson, Mark; Balikova,
BACKGROUND:Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome (MCLMR) is a rare autosomal dominant disorder with variable expressivity. It is characterized by mild-to-severe microcephaly, often associated with intellectual disability, ocular defects and lymphedema. It can be sporadic or inherited. Eighty-seven patients have been described to carry a mutation in KIF11, which encodes a homotetrameric motor kinesin, EG5. METHODS: We tested 23 unreported MCLMR index patients for KIF11. We also reviewed the clinical phenotypes of all our patients as well as of those described in previously published studies. RESULTS: We identified 14 mutations, 12 of which are novel. We detected mutations in 12 affected individuals, from 6 out of 6 familial cases, and in 8 out of 17 sporadic patients. Phenotypic evaluation of patients (our 26+61 earlier published=87) revealed microcephaly in 91%, eye anomalies in 72%, intellectual disability in 67% and lymphedema in 47% of the patients. Unaffected carriers were rare (4 out of 87: 5%). Family history is not a requisite for diagnosis; 31% (16 out of 52) were de novo cases. CONCLUSIONS: All inherited cases, and 50% of sporadic cases of MCLMR are due to germline KIF11 mutations. It is possible that mosaic KIF11 mutations cause the remainder of sporadic cases, which the methods employed here were not designed to detect. On the other hand, some of them might have another mimicking disorder and genetic defect, as microcephaly is highly heterogeneous. In aggregate, KIF11 mutations likely cause the majority, if not all, of MCLMR.
Open Access
Orthodontic management of achondroplasia in South Africa
(2005) Stephen, Lawrence; Holmes, Haly; Roberts, Tina; Fieggen, Karen; Beighton, Peter
Achondroplasia is a relatively common genetic skeletal dysplasia that manifests with stunted stature and disproportionate limb shortening. Characteristic craniofacial features include a prominent forehead, depressed nasal bridge and maxillary hypoplasia. It is probable that there are between 500 and 1 000 persons with achondroplasia in South Africa, and it is inevitable that they will seek consultation and care in general and specialised dental practices. In this context, it is relevant that dental and orthodontic management is constrained by practical problems associated with upper airway obstruction and other primary and secondary syndromic components. In order to provide a perspective on the situation in South Africa, we assessed the special oro-dental needs of 10 affected children. Our findings are presented here.
Open Access
Significance of connexion genes in non-syndromic deafness in Africans
(2013) Bosch, Jason; Wonkam, Ambroise; Dandara, Collet; Fieggen, Karen
Includes abstract. Includes bibliographical references.
Open Access
The use of precision medicine on children with refractory epilepsy in South Africa: Caregivers’ experiences, perspectives and expectations
(2019) Muchada, Irene Farisai; Fieggen, Karen; Laing, Nakita; Davies, Elin Haf
Background: Precision Medicine (PM) is a model whose goal is to tailor healthcare to meet the individual patient’s treatment and management needs. Precision Management of Epilepsy in South African Children (PME) is an on-going study at the University of Cape Town (UCT) gathering preliminary insight into the potential of PM initiatives which include remote monitoring with a wearable device, a phone app and a genetic and pharmacogenomics study in a South African setting. Feasibility and acceptability of new innovations is dependent on caregivers. This sub-study aims to better understand the caregivers’ experiences, perceptions and expectations of the PME initiatives. Methods: Ethical approval was obtained from UCT for this qualitative sub-study (HREC 775/2018). Twelve participants were purposively recruited from a cohort of 40 caregivers of children with refractory epilepsy recruited for the PME study attending Red Cross War Memorial Children’s Hospital in Cape Town, South Africa (SA). Face to face semi-structured interviews were conducted and themes were extracted using a thematic framework approach. Results: The knowledge of the aetiology of epilepsy was limited for most participants whose beliefs included medical, spiritual and traditional causes. Poor seizure control despite medication has resulted in an ongoing search for sources of cure and the right medication(s) and dose which impacts on adherence. The majority of participants showed limited understanding of what precision medicine is and did not fully understand the PME study. However, most felt that if properly implemented, these measures would be beneficial in caring for Children with Epilepsy (CWE). The mHealth devices introduced new feelings and challenges. The four themes which emerged were: 1) Cause of epilepsy: uncertainty and conflicting views; 2) Need for healing; 3) PME mHealth devices; 4) Feasibility of Feasibility of implementation of PME initiatives. Conclusions: The cause of epilepsy was generally misunderstood but caregivers felt that PM could help unlock the unknown cause of the refractory epileptic seizures. Most caregivers harbour insecurities about treatment efficacy and are in a constant search for optimal therapy. Adherence to medication is central to controlling seizures but was inconsistent for most participants for a number of reasons including health care access and uncertainty about the benefit gained. The mHealth devices, particularly the phone app, was perceived to be helpful especially in improving adherence but created an additional burden for many participants. This sub-study generated beneficial information for understanding caregivers’ current level of understanding of epilepsy and the PME initiatives and the potential benefits and challenges in future implementation of PM in SA.

Browsing by Author "Fieggen, Karen"

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