Introduction: Sodium chloride supplementation in saltwasting congenital adrenal hyperplasia (CAH) is generally recommended in infants, but its implementation in routine care is very heterogeneous. Objective: To evaluate oral sodium chloride supplementation, growth, and hydrocortisone and fludrocortisone dose in infants with salt-wasting CAH due to 21-hydroxylase in 311 infants from the AQUAPE CAH database. Results: Of 358 patients with classic CAH born between 1999 and 2015, 311 patients had salt-wasting CAH (133 females, 178 males). Of these, 86 patients (27.7%) received oral sodium chloride supplementation in a mean dose of 0.9 ± 1.4 mmol/kg/day (excluding nutritional sodium content) during the first year of life. 225 patients (72.3%) were not treated with sodium chloride. The percentage of sodium chloride-supplemented patients rose from 15.2% in children born 1999–2004 to 37.5% in children born 2011–2015. Sodium chloride-supplemented and -unsupplemented infants did not significantly differ in hydrocortisone and fludrocortisone dose, target height-corrected height-SDS, and BMI-SDS during the first 2 years of life. Conclusion: In the AQUAPE CAH database, approximately one-third of infants with salt-wasting CAH receive sodium chloride supplementation. Sodium chloride supplementation is performed more frequently in recent years. However, salt supplementation had no influence on growth, daily fludrocortisone and hydrocortisone dose, and frequency of adrenal crisis.

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South Africa has the highest prevalence of Foetal Alcohol Spectrum Disorders (FASD) worldwide. Despite the high prevalence of FASD in children and the resulting need for services, appropriate identification and management of most genetic and congenital disorders are critically lacking in South Africa. As a result of the established risk for communication delay from birth, young children with FASD need early communication intervention (ECI). There appears to be a dearth in research on the communication difficulties of local young children with FASD. Determining comprehensive communication profiles of young children may serve to emphasize their need for ECI. The main aim of the study was to present the distinctive communication profiles of a group of young children with FASD. The sub-aims entailed the description of their developmental histories, family/care-giving contexts, communication functioning and identifying developmental trends across the participants. A collective case study design following a quantitative approach was selected. The study was cross-sectional and descriptive statistics was used to describe the participants’ communication skills. A purposive sampling procedure was utilized as a limited number of participants could be found with a diagnosis of FASD. Five participants diagnosed with FASD, living in the Gauteng area, between the ages of 4 to 58 months took part in the study. The empirical study comprised of two phases. Phase 1 entailed the development of the Interview Schedule, the Assessment Protocol and the conduction of a pilot study. Phase 2 comprised the data collection, analysis and interpretation of results. The results of the study indicated that all five participants presented with incomplete case histories obtained from the foster parents and general developmental delays. According to the Four-Level Early Communication Assessment Framework the greatest delays included all aspects of communication skills. A developmental trend of the combined communication profiles of the participants indicated an increase in delay with an increase in chronological age. The participants presented with complex multiple neuro-developmental needs to be viewed within a developmental systems and ecological framework. Based on the results of this study the diverse roles of the speech-language therapist working with young children with FASD and their families were identified. A framework for interdisciplinary service delivery to this population was suggested. The study succeeded in the attempt to provide a comprehensive, in-depth description of a group of the five participants’ unique communication skills. In addition the study also highlighted the shortage of services, e.g. limited early identification and services dedicated to families affected by alcohol related problems. The study is of value to the speech-language therapist in the clinical and research domain. Future research is recommended to expand and support the findings. AFRIKAANS : Suid-Afrika vertoon die hoogste prevalensie van Fetale Alkohol Spektrumafwykings (FAS) wêreldwyd. Ten spyte van die hoë prevalensie van FAS in kinders en die voortspruitende behoefte aan dienste, is toepaslike identifikasie en hantering van die meeste genetiese en kongenitale afwykings in Suid-Afrika krities ontoereikend. As ‘n resultaat van die bevestigde risiko vir kommunikasie agterstand vanaf geboorte, benodig jong kinders met FAS vroëe kommunikasie intervensie (VKI). Daar blyk ‘n gaping in die navorsing aangaande die kommunikasie probleme van plaaslike jong kinders met FAS te wees. Omvattende kommunikasie profiele van jong kinders met FAS kan die behoefte aan VKI dienste beklemtoon. Die hoofdoel van die studie was om die kommunikasie profiele van ‘n groep jong kinders met FAS voor te lê. Die sub-doelwitte het die beskrywing van hulle ontwikkelings geskiedenis, gesin/sorggewer konteks, kommunikasie funksionering en die identifisering van ontwikkelings neigings in al die deelnemers behels. ‘n Saamgestelde gevallestudie is geselekteer volgens ‘n kwantitatiewe navorsings benadering. Die studie is ‘n kruisdeursnee ontwerp en beskrywende statistieke is gebruik om die deelnemers se kommunikasie vaardighede te beskryf. ‘n Doelgerigte steekproef prosedure is gebruik omdat ‘n beperkte aantal deelnemers met ‘n diagnose van FAS gevind kon word. Die vyf deelnemers wat geselekteer was vir die steekproef was gediagnoseer met FAS, woonagtig in die Gauteng area en het binne die 0 – 5 jaar ouderdomsgroep geval. Die empiriese studie het uit twee fases bestaan. Fase 1 het die ontwikkeling van die onderhoud skedule, die assesserings protokol en die uitvoering van ‘n loodsstudie ingesluit. Fase 2 het die data insameling, analise en interpretasie van resultate behels. Die resultate van die studie het aangedui dat al die deelnemers gepresenteer het met onvolledige gevalsgeskiedenisse wat van hul pleegouers verkry is en ‘n algemene ontwikkelings agterstand. Volgens die Vier-Vlak Vroëe Kommunikasie Assesserings Raamwerk het die grootste agterstande alle aspekte van kommunikasie vaardighede behels. ‘n Ontwikkelings neiging vanuit die gekombineerde kommunikasie profiele van die deelnemers het ‘n toename in agterstand met ‘n toename in kronologiese ouderdom aangedui. Die deelnemers presenteer met veelvuldige neuro-ontwikkelings behoeftes wat binne die ontwikkelings sisteem en ekologiese raamwerk beskou moet word. Gebasseer op die resultate is die diverse rolle van die spraak-taalterapeut wat met jong kinders met FAS en hulle families werk, geïdentifiseer. ‘n Raamwerk vir interdissiplinêre dienslewering aan hierdie populasie word voorgestel. Die studie het geslaag in die poging om ‘n omvattende, in-diepte beskrywing van die deelnemers se unieke kommunikasie vaardighede te verskaf. Addisioneel het die studie ook die tekort aan dienste, naamlik beperkte vroëe identifikasie en dienste toegewy aan families geaffekteer deur alkohol verwante probleme, uitgelig. Die studie is van waarde vir die spraak-taalterapeut in die kliniese en navorsings domein. Toekomstige navorsing vir die uitbreiding en ondersteuning van die studie se bevindinge word aanbeveel. / Dissertation (MCommunication Pathology)--University of Pretoria, 2011. / Speech-Language Pathology and Audiology / Unrestricted

Die kongenitale Toxoplasmose kann zu schwerwiegenden Folgen für einen Fötus führen. In dieser Dissertation wird erstmals ein geeignetes Tierversuchsmodell in Form des Meerschweinchens etabliert. Anhand dessen konnten die pathologischen Alterationen als eine Folge von einer durch den Parasiten verursachte Reduktion von Neuronen und neuralen Stammzellen zurückgeführt werden.