Characteristics of tuberous sclerosis complex in a South African cohort : description and parental understanding

Master Thesis


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University of Cape Town

Tuberous sclerosis complex (TSC) is a genetically inherited condition that manifests with benign non-invasive tumours or hamartomas in multiple organ systems. The condition is of autosomal dominant inheritance with an estimated incidence of 1 in 6000 live births. Population based studies estimate the prevalence of TSC to be 1 per 14, 492 population. TSC has myriad presentations but 80 to 90% of these children have seizure disorders. The prevalence of learning disabilities in children with TSC ranges from 38% to 80%. Pervasive developmental disorders (PDD) and attention deficit hyperactivity disorder have been identified in half of the children with TSC. Cutaneous manifestations occur in more than 90% of TSC patients. Cortical tubers, cardiac rhabdomyomas and renal angiomyolipomas are other lesions associated with TSC in children. Currently TSC has no cure and associated complications manifest with advancing age. Parents are faced with the challenge of life long care for these children. Half of the parents of children with TSC suffer significant psychological stress. Child specific factors, health literacy, and social stability are some factors known to impact on parental understanding of a child's chronic illness. Data specific to parental understanding of TSC are limited. Methodology: A retrospective case note review was performed to obtain the patient demographic and clinical presentation data. A prospective observational study provided the parental background characteristics and information on their understanding of TSC. Results: A total of 31 patient case notes were included in the review. The median patient age at the time of data was 132 months (IQR 96.00). The male: female ratio was 4:1. Seizures were observed in 27 patients (87.1%). Infantile spasms were reported in 3 (9.6%) patients while partial seizures occurred in 11 (35.5%) patients. More than one anticonvulsant was required in 15 (48.4%) of the 27 patients with seizures. Fourteen (53.8%) had global developmental delay. Two children (6.4%) were both hyperactive and aggressive and six (19.3%) were considered hyperactive. Aggressive behaviour was observed in four (12.9%) other children. Parents of 21 patients gave consent to participate in the study. The median parental age was 38 years (IQR 10.5). Seven parents (33.3%) had attained a primary level of education. Secondary education was attained by ten parents (47.6%) and three (14.3%) had received tertiary education. A statistically significant difference, p value =0.001, was observed in the change in the level of knowledge on comparison between the parent group that received a leaflet and the one that did not. A parental level of education of grade 8 was associated with a significantly higher baseline knowledge score (p value = 0.045) and a significantly greater change in the level of knowledge score (p value = 0.003). No association was detected between a parent's duration of clinic attendance and the baseline level of knowledge (p value = 0.63) There was no association between a parents baseline level of knowledge and their assessment of the impact of TSC on their child. (p value = 0.61). Conclusions and recommendations: The clinical profile of the cohort of children seen at the Red Cross Children's Hospital is similar to that of other cohorts described in literature. Parental understanding of TSC can be improved by provision of written information for those with at least a grade eight level of education. The information leaflet used in this study can be used to educate parents of children with TSC.

Includes bibliographical references (leaves 63-70).