3. Electronic Theses and Dissertations (ETDs) - All submissions
Permanent URI for this communityhttps://wiredspace.wits.ac.za/handle/10539/45
Browse
5 results
Search Results
Item A pilot study evaluating depression in mothers with children diagnosed with Down syndrome in state healthcare(2017) Swanepoel, MelissaParenting a child who has an intellectual disability has been shown to increase the risk for developing depression. The purpose of this study was to screen for depression in mothers with a child diagnosed with Down syndrome in state health care in Johannesburg, and to identify associated sociodemographic variables. The Edinburgh Postnatal Depression Scale (EPDS) was used to assess depression in participants along with a 10-item sociodemographic questionnaire, administered to 30 biological mothers of children postnatally diagnosed with Down syndrome. Eight mothers (26.7%) screened positive for depression with an EPDS score of 13 or greater. A statistically significant association was found between an HIV positive status and mothers who had an EPDS score of 13 or greater (p = 0.01). No significant association between a positive screening score for depression and various other sociodemographic factors were identified. Mothers with children diagnosed with Down syndrome, may be vulnerable towards developing depression.Item A study of the three most common chromosome trisomies,21 (Down Syndrome), 18 (Edwards Syndrome) and 13 (Patau Syndrome)(1997) Parrott, N,M.In 1959 Lejeune and his colleague first demonstrated a chromosome abnormality and showed that " infant mongoliens " had 47 instead of the normal 46 chromosomes in their body cells. Recent studies show that about 1 in 200 infants have recognisable chromosome abnormalities.Trisomy 21 ( Down syndrome, DS ) trisomy 18 ( Edwards syndrome, ES ) and trisomy 13 ( Patau syndrome, PS ) have been found to be the most common trisomies with population incidences of approximately 1 in 650, 1 in 8000 and 1 in 10000, respectivevely.Item An audit of thyroid function tests in a cohort of South African children with Down Syndrome(2013-03-28) Moosa, ShahidaDown syndrome (DS) (OMIM #190685), the most common viable chromosome abnormality, is associated with an increased risk of medical complications. The most frequent endocrine abnormalities observed in children with DS involve the thyroid gland, and the risk of thyroid dysfunction increases with age. Global studies have documented a wide spectrum of thyroid dysfunction in children with DS. Due to the paucity of data from sub-Saharan Africa regarding thyroid function in African children with DS, this study was conceived. The main aim of the study was to document the range of thyroid function in a cohort of 391 South African children with DS, seen at the Genetic Clinics from 2003 to 2008. Referral and treatment practices at two tertiary hospitals in Johannesburg were also documented. The majority (84%) of children had at least one thyroid function test (TFT) performed, and the most common form of thyroid dysfunction encountered was subclinical hypothyroidism (25.3%). Notably, up to one third of patients with abnormal TFT results were not referred to the Endocrine Clinics for evaluation, and were thus not receiving the necessary treatment. There were 13 neonates with congenital hypothyroidism; at least two of them were not referred, and thus not treated during the sensitive neonatal period. A significant difference was noted between the results from Chris Hani Baragwanath Hospital and those from the other two hospitals. The difficulties in interpretation of results obtained from different biochemical machines and different populations, as compared to those used to derive the reference ranges, were raised. Problems with regular follow-up of patients and annual thyroid surveillance were also highlighted. The clinical features of hypothyroidism may be difficult to distinguish from the phenotypic features of DS. Thus, regular biochemical screening, even in the absence of physical signs and symptoms, is warranted in this group of children to ensure that hypothyroidism is treated, and further, irreversible neurological and physical impairment prevented.Item Inclusive education of primary school aged children with Down Syndrome in Gauteng Province, South Africa.(2008-06-11T05:47:04Z) Klompas, Michelle ShanaThe study documented three case studies of primary school aged children with Down Syndrome attending ordinary public schools in Gauteng province, South Africa by employing an adapted ecosystemic model (Donald, Lazarus & Lolwana, 2002). Triangulation and content analysis was employed to analyse the data obtained from a parent questionnaire; parent, teacher and teaching assistant interviews; documented reports; school observations; an educator rating scale; a speech-language assessment and audiological screening. The study found that inclusive education had been successful for the participating children. Their communicative impairments impacted on the domains of communication, academic skills and socialization in the inclusive school context and had the greatest influence on their functioning in the ordinary school. The unique perceptions, attitudes and experiences of the children’s parents and educators were found to have a profound impact on the inclusive education process. The study found that systemic factors influencing inclusive education within the South African context acted as barriers and challenges to the successful inclusive education of the children and that their parents were the most influential and contributing force to the success of the process. Paramount implications for the systems and subsystems involved in the inclusive education process, clinical practice of Speech-Language Pathology and for the advancement of theory and research are discussed. A valuable proposed inclusive education process for the learner with Down Syndrome in the South African context is set out.Item The reproductive choices made by South African mothers who have children with down syndrome(2007-02-28T11:08:51Z) Lampret, Julie ClareDown syndrome is the commonest cause of congenital developmental disability in industrialized countries, where it occurs in approximately 1.4 per 1000 live births. In South Africa, the birth prevalence of Down syndrome was documented as 1.8 and 2.09 per 1000 live births in urban and rural populations, respectively. The physical, psychosocial and emotional burden of Down syndrome on affected families is significant. The aim of this study was to determine the reproductive choices of women with a child with Down syndrome, aged 1 year or older. The survey was conducted using a structured questionnaire. The sample consisted of fifty women; 36 African, 4 Asian and 10 Caucasian. The questionnaire assessed the mothers’ knowledge of Down syndrome prior to diagnosis, what counselling was received and how this knowledge was utilised. Information was also obtained on the mothers’ use of family planning, the knowledge and use of prenatal medical genetic screening and diagnosis, and what decisions would be made in future pregnancies. None of the sample group of mothers had prenatal diagnosis in their pregnancy with their Down syndrome child, but 76% (38) said that they would want prenatal diagnosis in any future pregnancies. Of the 50 mothers, 21 (42%) said they would terminate a pregnancy if Down syndrome had been detected, 26 (52%) said they would not, and 3 (6%) said they were unsure what they would have done if faced with this decision. Of the Caucasian women, 40% (4) said they would opt for termination of pregnancy, 40% (4) said they would not and 20% (2) were unsure. Of the African and Asian women, 52.8% (19) and 75% (3) respectively said they would not terminate an affected fetus. The information from this study can be used to improve the understanding of how women and their families cope with their children with Down syndrome and give insight for the provision of more effective and comprehensive genetic counselling.