Thesis (M.A.) - Carleton University, 2008. / Includes bibliographical references (p. 128-139). Also available in electronic format on the Internet.

Prenatal alcohol exposure (PAE) alters limb development that may lead to structural and functional abnormalities of the limb reported in children diagnosed with Fetal Alcohol Spectrum Disorder. To determine whether PAE alters the central representation of the forelimb we used the rodent barrel cortex as our model system where it was possible to visualize and quantitatively measure the size of the forepaw representation in the forepaw barrel subfield (FBS) in first somatosensory cortex. In the present study, we examined the effects of PAE on pattern and size of the forepaw and forepaw representation in FBS in neonatal rats at gestational day 32 that corresponds to postnatal day 9. Pregnant Sprague-Dawley rats were chronically intubated with binge doses of ethanol (6 g/kg) from gestational day 1 through gestational day 20. The offspring of the ethanol treated dams comprised the ethanol (EtOH) group. The effect of PAE on the EtOH group was compared with a nutritional-controlled pairfed (PF) group and a normal chowfed (CF) group. The ventral (glabrous) surface area of the forepaw digits, length of digit 2 through digit 5, and the corresponding glabrous forepaw digit representations in the FBS were measured and compared between treatment groups. In rats exposed to in utero alcohol, the sizes of the overall glabrous forepaw and forepaw digits were significantly reduced in EtOH pups compared to CF and PF pups; overall glabrous forepaw area was 11% smaller than CF controls. Glabrous digit lengths were also smaller in EtOH rats compared to CF controls and significantly smaller in digit 2 through digit 4. The glabrous digit representation in FBS was 18% smaller in the EtOH group when compared to the CF treatment. However, PAE did not produce malformations in the forepaw or alter the pattern of the forepaw representation in FBS; instead, PAE significantly reduced both body and brain weights compared to controls. Unexpectedly, little or no correlation was observed between the size of the glabrous forepaw compared to the size of the glabrous forepaw representation in the FBS for any of the treatment groups. The present findings of PAE-related alterations in sensory periphery and the central cortical representation may underlie deficits in sensorimotor integration reported among children with Fetal Alcohol Spectrum Disorder.

Indiana University-Purdue University Indianapolis (IUPUI) / Down syndrome (DS) and Fetal Alcohol Syndrome (FAS) are two leading causes of birth defects with phenotypes ranging from cognitive impairment to craniofacial abnormalities. While DS originates from the trisomy of human chromosome 21 and FAS from prenatal alcohol consumption, many of the defining characteristics for these two disorders are stunningly similar. A survey of the literature revealed over 20 similar craniofacial and structural deficits in both human and mouse models of DS and FAS. We hypothesized that the similar phenotypes observed are caused by disruptions in common molecular or cellular pathways during development. To test our hypothesis, we examined morphometric, genetic, and cellular phenotypes during development of our DS and FAS mouse models at embryonic days 9.5-10.5. Our preliminary evidence indicates that during early development, dysregulation of Dyrk1a and Rcan1, cardinal genes affecting craniofacial and neurological precursors of DS, are also dysregulated in embryonic FAS models. Furthermore, Caspase 3 was also found to have similar expression in DS and FAS craniofacial neural crest derived tissues such as the first branchial arch (BA1) and regions of the brain. This may explain a developmental deficit by means of apoptosis. We have also investigated the expression of pAkt, a protein shown to be affected in FAS models, in cells located within the craniofacial precursor of Ts65Dn. Recent research shows that Ttc3, a gene that is triplicated and shown to be overexpressed in the BA1 and neural tube of Ts65Dn, targets pAkt in the nucleus affecting important transcription factors regulating cell cycle and cell survival. While Akt has been shown to play a role in neuronal development, we hypothesize that it also affects similar cellular properties in craniofacial precursors during development. By comparing common genotypes and phenotypes of DS and FAS we may provide common mechanisms to target for potential treatments of both disorders. One of the least understood phenotypes of DS is their deficient immune system. Many individuals with DS have varying serious illnesses ranging from coeliac disease to respiratory infections that are a direct result of this immunodeficiency. Proteasomes are an integral part of a competent and efficient immune system. It has been observed that mice lacking immunoproteasomes present deficiencies in providing MHC class I peptides, proteins essential in identifying infections. A gene, Psmg1 (Dscr2), triplicated in both humans and in Ts65Dn mice, is known to act as a proteasome assembly chaperone for the 20S proteasome. We hypothesized that a dysregulation in this gene promotes a proteasome assembly aberration, impacting the efficiency of the DS immune system. To test this hypothesis we performed western blot analysis on specific precursor and processed β-subunits of the 20S proteasome in thymic tissue of adult Ts65Dn. While the β-subunits tested displayed no significant differences between trisomic and euploid mice we have provided further insight to the origins of immunodeficiency in DS.

Thesis (MA)--Stellenbosch University, 2014. / ENGLISH ABSTRACT: Maternal drinking during pregnancy and its consequences are a growing health concern worldwide. It has also been identified as a significant problem in South African communities with some of the highest prevalence rates of Fetal Alcohol Spectrum Disorder (FASD) reported in South Africa. The primary aim of this study was to explore how women in a South African community in the Northern Cape Province perceive the personal and general risk of drinking during pregnancy. The secondary aims were to ascertain whether there was evidence of unrealistic optimism, to examine whether there were personal characteristics that are associated with high or low risk perception, and to examine women‟s knowledge of FASD. A total of 128 women from De Aar in the Northern Cape, an area with a high prevalence of FASD, and therefore drinking during pregnancy, were recruited to take part in the study. Participants had previously taken part in a FASD prevention programme. Questionnaires were administered assessing the perception of the risk posed to a participant‟s own child should she drink during pregnancy, and the risk posed to others‟ children should they drink during pregnancy. The questionnaire also contained questions on FASD knowledge and demographic variables. Participants were between 18 and 44 years of age and reported high rates of unemployment. Most women had more than one child and 7.8% had a child diagnosed with FASD. No evidence for unrealistic optimism was found. Multiple regression analyses revealed both FASD knowledge, and the perception of how easy it would be for oneself to stop drinking, were significant predictors for both personal and general risk. A model including the perception of general risk, FASD knowledge and the perception of how easily one could stop drinking accounted for the most variance in the perception of personal risk (66.4%). Perception of personal risk on its own was the strongest predictor of the perception of general risk accounting for 56.1% of variance. There was no significant correlation between passage of time and FASD knowledge, but possible gaps in FASD knowledge were identified. The study provides an overview of the perception of the risk of drinking during pregnancy in the target population. It also suggests improvements to the research design and materials for further research. / AFRIKAANSE OPSOMMING: Moederlike drankgebruik gedurende swangerskap en die gevolge daarvan word wêreldwyd met groeiende kommer beskou. Dit is ook as ʼn wesenlike probleem in Suid-Afrika geïdentifiseer, met van die hoogste voorkomssyfers van Fetale Alkohol Spektrumafwykings (FASA) wat in Suid-Afrika aangeteken is. Die primêre doel van hierdie studie was om, in ʼn Suid-Afrikaanse gemeenskap in die Noord Kaap provinsie, die persepsie van persoonlike en algemene risiko van drink tydens swangerskap onder vrouens, te ondersoek. Die sekondêre doelstellings was om vas te stel of daar bewyse van onrealistiese optimisme is; te bepaal of daar persoonlike eienskappe is wat korreleer met ʼn hoë of lae risiko-persepsie, en om ook die vroue se kennis van Fetale Alkohol Spektrumafwykings (FASA) te ondersoek. 128 vroue van De Aar in die Noord-Kaap is gewerf om aan die studie deel te neem. Die gebied het 'n hoë FASA voorkoms, en dus ook alkoholgebruik tydens swangerskap. Deelnemers het voorheen deelgeneem aan 'n FASA voorkomingsprogram. Vraelyste is voltooi rakende die persepsie van die risiko vir 'n deelnemer se eie kind sou sy tydens swangerskap drink, en die risiko vir ander se kinders, sou hulle tydens swangerskap drink. Die vraelys het ook vrae oor FASA kennis en demografiese veranderlikes ingesluit. Deelnemers was tussen 18 en 44 jaar oud en het hoë vlakke van werkloosheid gerapporteer. Meeste vrouens het meer as een kind gehad en 7.8% het ʼn kind wat met FASA gediagnoseer is gehad. Geen bewyse vir onrealistiese optimisme is gevind nie. Meervoudige regressie-ontleding het bevind dat beide FASA-kennis en die persepsie van hoe maklik dit vir ‟n deelnemer self sou wees om op te hou drink, beduidende voorspellers vir beide persoonlike en algemene risiko is. 'n Model wat die persepsie van algemene risiko, FASA-kennis en die persepsie van hoe maklik 'n deelnemer self kan ophou drink, het die grootste variansie in die persepsie van persoonlike risiko verduidelik (66,4 %). Persepsie van persoonlike risiko op sy eie, was die sterkste voorspeller van die persepsie van algemene risiko, opsigself verantwoordelik vir 56,1% van die variansie. Daar was geen beduidende korrelasie tussen die verloop van tyd en FASA kennis nie, maar moontlike gapings in die kennis van FASA is geïdentifiseer. Die studie bied 'n oorsig van die persepsie van die risiko van drankgebruik tydens swangerskap in die teikenbevolking. Dit stel ook verbeteringe vir die navorsingsmetodiek voor vir toekomstige navorsing.

Thesis (M Speech Path)--Stellenbosch University, 2014. / ENGLISH ABSTRACT: This study was done in collaboration with the Foundation for Alcohol Related Research (FARR), a non-governmental organization whose primary objective is to develop and maintain Fetal Alcohol Spectrum Disorder (FASD) prevention programmes across South Africa. Research has shown the occurrence of FASD in South Africa to be much higher than in other parts of the world. As part of their prevention programmes, FARR uses a three part diagnostic process, including a maternal interview, a dysmorphological examination, as well as a general developmental assessment. The maternal interview questionnaire that FARR currently uses takes an average of two hours per interviewee to complete. Even though a recent study indicates that FASD prevention programmes administered by FARR can potentially reduce FASD prevalence, shorter maternal interviews could improve the use of FARR resources and the ability of FASD research studies to gather meaningful information and inform future prevention efforts. The main purpose of this study was to adjust the maternal interview questionnaire used by FARR in order to make interviews with mothers shorter while delivering the information needed for successful FASD prevention programmes. Data related to the adequacy of the adjusted maternal interview questionnaire was collected and analysed according to an action research approach in four consecutive phases. The research procedures consisted of two separate focus group interviews with five key role players from FARR. During the first focus group interview the main problems with the questionnaire was identified as being (i) the length of the questionnaire, (ii) the unsuitability of the questionnaire to interview someone other than the biological mother, and (iii) inconsistency between interviewers when using the questionnaire. During the second phase of the study the questionnaire was adjusted and revised as part of a second focus group interview. The interviewers, data capturer and data analyst who used the adjusted questionnaire as part of a larger FASD prevention programme made several suggestions on how the questionnaire could be further adjusted to suit the needs of FARR. These suggestions were addressed during the final phase of the study, after which the adjusted questionnaire was finalized. Findings from the study suggest that identified problems with FARR’s original maternal interview questionnaire were successfully addressed by the adjusted questionnaire, while simultaneously satisfying the objectives of a maternal interview as identified by participants during the first focus group interview. Results confirmed that more maternal interviews could be conducted in the same time period using the adjusted interview questionnaire compared to when the original questionnaire was used, due to the fact that the questionnaire was shorter and took less time to administer. As part of this study an additional questionnaire was developed specifically for caregiver interviews. According to FARR role players, inconsistency between interviewers was for the most past successfully addressed by the development of this additional questionnaire and the development of an interviewer guideline. Recommendations for future research include the further development and evaluation of the caregiver questionnaire and interviewer guideline. / AFRIKAANSE OPSOMMING: Hierdie studie is uitgevoer in samewerking met die “Foundation for Alcohol Related Research” (FARR), ‘n nie-regeringsorganisasie met die primêre objektief om Fetale Alkohol Spektrum Afwyking (FASA) voorkomingsprogramme in Suid-Afrika te ontwikkel en te handhaaf. Volgens navorsing is die voorkoms van FASA in Suid-Afrika beduidend hoër as in ander dele van die wêreld. ‘n Drie-delige diagnostiese proses word as deel van FARR se voorkomingsprogramme gebruik, insluitend ‘n onderhoud gefokus op moeders, ‘n dismorfologiese ondersoek, asook ‘n evaluasie van die kind se algehele ontwikkeling. Die moeder-onderhoudsvraelys wat tans deur FARR gebruik word neem gemiddeld twee ure om te voltooi. Alhoewel ‘n onlangse studie aandui dat die voorkomingsprogramme deur FARR oor die potensiaal beskik om die prevalensie van FASA te verlaag, kan korter moeder-onderhoude potensieël daartoe lei dat bronne beter benut word, asook dat FASA voorkomingstudies betekenisvolle inligting versamel vir die ontwikkeling van toekomstige voorkomingsprogramme. Die hoofdoel van die huidge studie was om die moeder-onderhoudsvraelys wat tans deur FARR gebruik word aan te pas, om sodoende die onderhoude met moeders korter te maak terwyl die nodige inligting vir suksesvolle FASA voorkomingsprogramme steeds verkry word. Gedurende hierdie studie is data rakende die toereikendheid van die aangepaste moederonderhousdvraelys versamel en geanaliseer volgens ‘n aksie-navorsingsbenadering in vier opeenvolgende fases. Die navorsingsprosedures het bestaan uit twee afsonderlike fokusgroeponderhoude met vyf van die sleutelrolspelers van FARR. Gedurende die eerste fokusgroeponderhoud is die hoofprobleme met die vraelys geïdentifiseer as (i) die lengte van die vraelys, (ii) die ongeskiktheid van die vraelys om ‘n onderhoud met iemand anders as die biologiese moeder te voer, en (iii) die inkonsekwentheid tussen onderhoudvoerders met die gebruik van die vraelys. Gedurende die tweede fase van die studie is die vraelys aangepas en hersien as deel van ‘n tweede fokusgroeponderhoud. Die onderhoudvoerders, data verwerker en data analis wat die aangepaste vraelys gebruik het as deel van ‘n groter FASA voorkomingsprogram het verskeie aanbevelings gemaak rakende hoe die vraelys verder aangepas kan word om te voldoen aan FARR se behoeftes. Laasgenoemde aanbevelings is aangespreek gedurende die laaste fase van die studie, waarna die aangepaste vraelys gefinaliseer is. Die bevindinge van die studie dui aan dat die geïdentifiseerde probleme met FARR se oorspronklike moeder-onderhoudsvraelys suksesvol deur die aangepaste vraelys aangespreek is, terwyl die objektiewe van ‘n moeder-onderhoud (soos geïdentifiseer deur die deelnemers aan die eerste fokusgroeponderhoud) steeds vervul is. Resultate het bevestig dat meer moeder-onderhoude in dieselfde tydsperiode met behulp van die aangepaste vraelys gevoer kon word as met die oorspronklike vraelys, as gevolg van die feit dat dit korter was en minder tyd geneem het om te voltooi. As deel van die studie is ‘n bykomstige vraelys spesifiek vir sorggewer-onderhoude ontwikkel. Volgens die FARR rolspelers is inkonsekwentheid tussen die onderhoudvoerders grootliks suksesvol aangespreek deur middel van die ontwikkeling van hierdie bykomstige vraelys asook die ontwikkeling van ‘n riglyn vir onderhoudvoerders. Aanbevelings vir verdere navorsing sluit die verdere ontwikkeling en evaluasie van die sorggewer-vraelys en onderhoudvoerder riglyn in.

The thesis devotes to the negative effects of alcohol abuse during pregnancy on early psychical development of the child. It surveys the problematic fields of development of the children who were prenatally exposed to alcohol. The theoretical survey is accompanied by qualitative empirical part, which contains four case studies of children in the age of 6 - 72 weeks whose mothers were drinking alcohol during pregnancy. There are several problematic areas in the development of these children, for example growth deficit, retardation of the psychomotor development (especially in speech, gross motor skills and social behaviour), attachment disorders and eating disorders. These signs correspond to the scientific literature, but there are differences in the extent and frequency in the children Key words: alcohol, fetal alcohol syndrome, fetal alcohol spectrum disorders, early psychomotor development

No description available.

Thesis (M Social Work)--Stellenbosch University, 2013. / ENGLISH ABSTRACT: Fetal alcohol syndrome (FAS) is a condition which occurs when women drink alcohol during pregnancy. The use of alcohol during pregnancy has permanent and serious consquences which manifests in developmental delays and causes harmful effects to the central nervous system. FAS is seen as completely preventable and irreversable which lasts into adulthood. The prevalence rate of FAS in the Western Cape is the highest in the world. FAS is not just a health problem but also a social welfare problem, since the care for adolescents with FAS brings about exceptional demands for the carer. For this reason it became vital to explore the educational roles of the carers of adolescents with FAS. This research study firstly describes the characteristics of FAS within the physical, cognitive and social development of the adolescents with FAS. Secondly, the study describes and explores the educational roles of the carers of adolescents with FAS. The study combines both quantitative and qualitative research. The exploratory and descriptive research designs were used and a purposive sampling method was used. The participants were interviewed individually with the help of a semi-structured questionnaire. The findings of the empirical investigation show that the carers of FAS adolescents according to their perceptions and experiences know what is expected of them within their respective educational roles and they do make an effort to fulfil this role to the best of their ability. Further findings show that due to aspects like poverty and illiteracy of the participants, the carers need the support of the social worker in order for them to fulfil their educational roles. Recommendations resulting from the empirical investigation indicated that social workers need to support the carers of adolescents with FAS in parenting programmes which is simple and practical for the carers to understand and to implement. Further recommendations focus on awareness programmes and actions where the carers also take part in educating the community in terms of FAS. Through these actions the carers of adolescents with FAS can build a support system for themselves whithin the community. Therefore the community can be utilized by the carers of adolescents with FAS as a valuable resource in the fulfilment of their educational roles. / AFRIKAANSE OPSOMMING: Fetale-alkoholsindroom (FAS) is ‘n toestand wat veroorsaak word wanneer vroue alkohol drink tydens swangerskap. Alkoholgebruik tydens swangerskap het blywende en ernstige nagevolge wat manifesteer in ontwikkelingsagterstande en skade in die senuweestelsel. FAS word dus beskou as heeltemal voorkombaar, maar is onomkeerbaar en duur voort tot in volwassenheid. Die voorkomsyfer van FAS is wêreldwyd die hoogste in veral die Wes-Kaap. FAS is nie net ‘n gesondheidsprobleem nie, maar ook ‘n maatskaplike probleem aangesien die versorging van adolessente met FAS besondere eise aan versorgers stel. Om hierdie rede is dit noodsaaklik om die opvoedingsrolle waaroor versorgers van FAS-adolessente moet oor beskik te ondersoek. Hierdie navorsingstudie beskryf eerstens die kenmerke van FAS binne die fisiese-, kognitiewe- en sosiale ontwikkeling van die adolessent met FAS. Tweedens beskryf studie die opvoedingsrolle waaroor versorgers van FAS-adolessente moet oor beskik. Die studie kombineer beide kwalitatiewe en kwantitatiewe navorsing. Die verkennende en beskrywende navorsingsontwerp is gebruik en daar is ‘n doelbewuste steekproef gedoen. Individuele onderhoude is met die deelnemers gevoer met behulp van gestruktureerde vraelyste. Die bevindinge van die empiriese ondersoek toon dat die versorgers van FAS-adolessente volgens hulle persepsie en belewenisse, weet wat van hulle verwag word in die verskillende opvoedingsrolle en dat hulle wel pogings aanwend om hierdie rolle te probeer vervul. Verdere bevindings toon dat as gevolg van aspekte soos armoede en ongeletterdheid van die deelnemers die maatskaplike werker ondersteuning sal moet bied aan die versorgers van FAS-adolessente in die vervulling van hul opvoedingsrolle. Aanbevelings vanuit die empiriese ondersoek dui daarop dat die versorgers van FASadolessente deur veral die maatskaplike werker ondersteun moet word deur ouerleidingsprogramme wat eenvoudig en prakties aangebied behoort te word sodat die versorgers die inhoud maklik kan verstaan en kan toepas. Verdere aanbevelings fokus op bewusmakingsprogramme en -aksies waarin die versorgers ‘n rol kan speel om sodoende die gemeenskap ook op te voed ten opsigte van FAS. Hierdeur kan die versorgers van FASadolessente vir hulleself ‘n ondersteuningsnet binne die gemeenskap bou en die gemeenskap as ‘n waardevolle hulpbron benut in die vervulling van hul opvoedingsrolle.

Thesis (M Social Work)--Stellenbosch University, 2015. / ENGLISH ABSTRACT: Non-biological caregivers often take children into their care when their own biological caregivers have failed to provide them with a safe and loving home. These children are often also affected with Fetal Alcohol Spectrum Disorders (FASD). Learning of a child’s disability can be a big shock to non-biological caregivers especially if it is misunderstood, available professional help is scarce and intervention resources are not readily available. These non-biological caregivers are often not prepared for the financial, emotional and physical investment that is required to fully support the children and their development. This can cause various emotional reactions and implications that are challenging for the caregivers. It is critical to recognise parenting experiences and challenges as a means of developing and promoting intervention strategies and support that will respond to the needs of the children with FASD and their non-biological caregivers especially from a South African perspective. There is a need for social workers to take on responsibility for addressing FASD as they have the professional capacity to help families living with FASD to develop and maintain stable and nurturing households. One way in which this can be achieved is through the initiation and facilitation of support groups. The goal of the study was to gain an understanding on the experiences of non-biological caregivers of children with FASD and of the utilisation of support groups to help them cope better. The researcher made use of a combination of an exploratory and descriptive research design. By using both a quantitative and qualitative approach in a complimentary manner, the researcher was able to gain an in depth insight into the lives of the non-biological caregivers and how they experience this disability and support groups that are utilised as a means of helping them cope. Permission to conduct the study was granted by the committee for Human Research at the University of Stellenbosch. The literature study firstly investigated the implication of FASD on affected children. Secondly, the extents to which non-biological caregivers are affected by the consequences of this disability were discussed. After this the utilisation of support groups as a method of supporting non-biological caregivers, with the emphasis on a mutual-aid and educational approach as theoretical underpinning was described. The empirical study was completed with 16 participants through face-to-face, semi-structured interviews. An interview schedule based on the findings of the literature study was utilised. The criteria for inclusion were that participants had to have attended at least 5 support group sessions and had to be a non-biological caregiver of FASD children who had attended the support groups specifically related to this disorder. The results of this study mostly confirmed the findings from the literature study which showed that support groups play a vital role in providing necessary support to non-biological caregivers who are often unprepared for the realities of caring for a FASD child. Recommendations are aimed at the social work profession in South Africa who need to align itself in providing necessary support to non-biological caregivers through the use of support groups and various other methods of service rendering. Suggestions for future research are also made in line with how non-biological caregivers can be supported in their unique caregiver responsibilities. / AFRIKAANSE OPSOMMING: Nie-biologiese versorgers neem dikwels kinders in hul sorg wanneer kinders se biologiese ouers versuim om vir hulle ‘n veilige en liefdevolle huis en omgewing te skep. Hierdie kinders kan ook ly aan of geaffekteer word deur Fetale Alkohol Spektrum Versteuring (FASV). Dit kan ‘n groot skok wees wanneer versorgers uitvind dat die kind geaffekteer is daardeur, veral as hierdie versteuring misverstaan word. Professionele hulp is skaars, en intervensies en hulpbronne is nie vryelik beskikbaar nie. Versorgers is dikwels nie voorbereid op die finansiële, emosionele en fisiese eise wat nodig is om ten volle die kind se ontwikkeling te ondersteun nie. Dit kan dit lei tot verskillende emosionele reaksies met verskeie gevolge wat opsigself ook verskeie uitdagings vir die nie- biologiese versorgers veroorsaak. Dit is van kritieke belang om die ervarings en uitdagings van ouerskap te verken in die bevordering en ontwikkeling van intervensiestrategieë ter ondersteuning van die behoeftes van die kinders met FASV en hul versorgers, veral vanuit ‘n Suid-Afrikaanse perspektief. Daar word vereis van maatskaplike werkers om verantwoordelikheid te neem vir die aanspreek van FASV, aangesien hulle die professionele kapasiteit het om families wat geaffekteer is te help, en om hulle by te staan sodat ‘n stabiele en koesterende huishouding ontwikkel en volgehou kan word. Een manier waarop dit bereik kan word, is deur die vestiging en fasilitering van ondersteuningsgroepe. Die doel van hierdie studie was om ‘n begrip te ontwikkel oor die ervarings van nie-biologiese versorgers van kinders met FASV se benutting van ondersteuningsgroepe. Die navorser het gebruik gemaak van ‘n kombinasie van ‘n verkennende en beskrywende navorsing. Deur die gebruik van beide ʼn kwantitatiewe en kwalitatiewe benadering, is die navorser in staat gestel om ‘n indiepte insig in die lewens van die versorgers te bekom, en ondersoek in te stel oor hul ervarings van die versteuring/gestremdheid deur ondersteuningsgroepe wat as intervensie aangewend is. Toestemming om die studie te doen is deur die Etiese Komitee vir Menslike Navorsing aan die Universiteit van Stellenbosch bekom. Eerstens is die literatuurstudie voltooi waarin die navorser ondersoek ingestel het oor die implikasies van FASV op geaffekteerde kinders. Tweedens is daar bespreek hoe nie-biologiese versorgers geraak word deur die gevolge van hierdie versteuring/gestremdheid. Daarna is ondersteuningsgroepe as ‘n metode van ondersteuning aan versorgers ondersoek, en klem is gelê op ‘n wedersydse hulpbenadering en ‘n opvoedkundige benadering as teoretiese grondslag. Die empiriese studie is voltooi met 16 deelnemers deur middel van individuele, een-tot-een, semi-gestruktureerde onderhoude. ‘n Onderhoudskedule, wat gebaseer is op die bevindinge van die literatuurstudie, is gebruik. Die kriteria vir deelname aan die studie en groep het ingesluit dat deelnemers ten minste vyf sessies van ‘n ondersteuningsgroep moes bywoon en ook ‘n pleegouer wees van ‘n FASV kind. Die resultate van hierdie studie het meestal die bevindinge uit die literatuurstudie bevestig en het getoon dat ondersteuningsgroepe ‘n belangrike rol speel in ondersteuning aan nie-biologiese versorgers, wat dikwels onvoorbereid is op die werklike problematiek van die versorging van ‘n kind met FASV. Aanbevelings word gerig aan die maatskaplikewerk-professie in Suid-Afrika, ten einde ondersteuningsgroepe en ander metodes van dienslewering te bied, ter ondersteuning aan die versorgers van FASV kinders. Voorstelle vir verdere navorsing word ook gemaak sodat daar ‘n ondersteuningsnetwerk opgebou kan word vir die versorgers van ‘n FASV kind ten einde aan hulle unieke versorgingsbehoeftes te voorsien.

Dissertation (PhD)--Stellenbosch University, 2003. / ENGLISH ABSTRACT: Introduction: Fetal alcohol syndrome (FAS) consists of multi-system abnormalities and is caused by the excessive intake of alcohol during pregnancy. The teratogenic effect of alcohol on the human fetus has now been established beyond reasonable doubt and FAS is the most important human teratogenic condition known today. The syndrome, first described by Lemoine in1968 in the French literature and in the English literature by Jones and Smith in 1973, has since been corroborated by numerous animal and human studies. This study has grown out of several epidemiological, prenatal and infant studies in areas of the Western Cape that are currently being undertaken by the Foundation for Alcohol Related Research (FARR). Preliminary data from studies in Wellington have confirmed that a significant proportion of school-entry children have FAS. The prevalence ofF AS in this community exceeds that for Down syndrome by a factor of30 times. The frequency ofFAS in high-risk populations of the Western Cape is the highest reported anywhere in the world. With this background, and the paucity of FAS literature related to dentistry, the aim of this study was to determine the craniofacial and oral manifestations ofF AS in a sample of school-going children in the Western Cape. Methodology: This study is a descriptive, case-control, cross-sectional study using a random cluster sampling method. On the day of examination, children were weighed, and their height and head circumference were measured. They then had photographs and radiographs taken, followed by an oral examination. For each child, the following information was recorded on the data capture sheet: date of birth, gender, head circumference, weight and height, enamel opacities, dental fluorosis, plaque index, gingival bleeding index, dentition status, oral mucosal lesions and dentofacial anomalies. Results: The total sample of90 children with diagnosed FAS and 90 controls, were matched for age, gender and social class. There were no significant age differences between the two groups (p=0.3363) and the mean ages were 8.9 and 9.1 for the FAS and control groups respectively. Head circumference (HC) differed significantly between the two groups (p<O.OOO 1) and the three photographic diagnostic measurements were all influenced by head circumference. The prevalence of enamel opacities between FAS and controls was not significantly different and averaged around 15% for both groups. The opacities were found largely in the maxillary central incisor and lower first molar teeth. More than three quarters of both the cases and the controls demonstrated the presence of plaque and almost two thirds demonstrated gingival bleeding on probing. FAS patients had statistically significantly (p<O.OO 1) more dentofacial anomalies than the controls. The mean dmft score for the FAS sample was slightly higher, though not significantly different from that of the controls and the decayed component (d) made up the largest part of the index in both groups. None of the FAS children had any missing or filled teeth, and in the case of the controls these were also rarely found. Thirty nine children (21.67%) of the total sample were caries-free. Discussion: This study represents one of the largest sample sizes documenting the craniofacial and oral and dental manifestations of the FAS to date. Forty two per cent of the FAS sample manifested growth retardation and this was statistically significant (p<O.OOOl) when compared to their controls. Analysis of the face using anthropometry supports many of the previous clinical descriptions of the effects of neonatal alcohol exposure and offers some new perspectives on the FAS facial phenotype. The characteristic dysmorphic facial features found included ptosis of the upper eyelids, epicanthic folds, short upturned nose, thin vermillion border of the upper lip and a smooth philtrum. Overall the analysis of the caries data for this study in respect of differences between cases and controls was found to be unremarkable. The lack of difference in the primary and permanent dentitions between the cases and controls could have been anticipated in this population due to the high prevalence of dental caries among children from the Western Cape. The FAS children showed significantly lower dental ages when compared to the controls. Dental maturation has previously been shown to be mildly, but consistently, delayed in children with delayed development and therefore this is a not surprising finding for the FAS children in this study. Differences between skeletal age and chronological age were noted for both boys and girls, but as a whole, in the present study groups (FAS and controls) showed little variation in skeletal development. Measurements related to the face height and mandibular size appear to be the most important in distinguishing the FAS children from the controls. Most (5 out of8) of the discriminating linear measurements studied lie in the front of the skull area. Most of the discriminating measurements are vertical measurements and only two of the measurements are lines between soft tissue points. When comparing the photographic analyses of the facial features versus the cephalometric assessments; the four facial features most typical of aF AS child had a Positive Predictive Value (PPV) of92% and a Negative Predictive Value (NPV) of90% and the eight linear measurements from the cephalometric analyses had a PPV of 92% and a NPV of 95%. One can therefore conclude that the external facial features are probably more reliable in discriminating between the two groups than the cephalometric measures. For further analyses, other models where a single angular measurement explains a combination of linear measurements need to be investigated. This might further improve the discriminating abilities of the cephalometric measurements as a whole. Conclusions: This study has shown the importance of the oral and craniofacial features ofFAS. FAS can no longer be viewed as just a rare and peculiar childhood disorder. Awareness and recognition of children with FAS is important so that they can be correctly diagnosed and referred appropriately. Prevention of the secondary disabilities and most importantly, the prevention of FAS in subsequent programmes can be planned. The dentist who treats children with FAS must recognise that such patients might be emotionally and mentally handicapped and may make treatment difficult and there may be a need for the child to be treated with behaviour modification and/or premedication before restorative treatment. The dentist should also be aware of the need for an accurate medical history, and possible medical consultations, before treatment can be undertaken safely. / AFRIKAANSE OPSOMMING: Fetale alkoholsindroom (FAS) bestaan uit multisisteem abnormaliteite en word veroorsaak deur oormatige inname van alkohol tydens swangerskap. Die teratogeniese uitwerking van alkoholop die menslike fetus word nie meer betwyfel nie en FAS is die belangrikste menslike teratogeniese toestand tans bekend. Die sindroom, soos aanvanklik deur Jones en Smith in 1973 beskryf, is sedertdien deur vele studies op mens en dier bevestig. Hierdie studie het gegroei uit vele epidemiologiese-, prenatale- en kleuterstudies in dele van die Weskaap wat tans onderneem word deur die Stigting vir Alkoholverwante Navorsing. Voorlopige data van die studies in Wellington bevestig dat 'n betekenisvolle deel van skoolbeginners FAS het. Die prevalensie van FAS in hierdie gemeenskap oortref dié van Down se sindroom met 'n faktor van 30. Die frekwensie van FAS in die Weskaap is die hoogste wat in die wêreld gerapporteer is. Met hierdie agtergrond, en die skaarste aan FAS literatuur wat op tandheelkunde betrekking het, was die doel van hierdie studie om die kraniofasiale en mondmanifestasies van fetale alkoholsindroom in 'n monster van skoolkinders in die Weskaap te ondersoek. Metodologie: Hierdie studie was 'n beskrywende, gevallebeheerde deursneestudie waarin 'n lukrake gebondelde monstermetode gebruik is. Op die dag van die ondersoek is die kinders geweeg en hulle lengte en kopomtrek bepaal. Hierna is foto's en x-straalopnames geneem, gevolg deur 'n mondondersoek. Die volgende inligting is vir elke kind aangeteken: geboortedatum, geslag, kopomtrek, massa en lengte, glasuur-opasiteite, tandfluorose, plaakindeks, gingivale bloedingsindeks, gebitstatus, mukosale letsels en dentofasiale anomalieë. Resultate: Die totale monster, bestaande uit 90 kinders met gediagnoseerde fetale alkoholsindroom en 90 bypassende kontroles, is vergelyk ten opsigte van ouderdom, geslag en sosiale klas. Daar was geen betekenisvolle ouderdomsverskille tussen die twee groepe nie (p- =0.3363). Kopomtrek het betekenisvol tussen die twee groepe verskil (p<0.0001), en die drie fotografiese diagnostiese afmetings is almal beïnvloed deur kopomtrek. Die prevalensie van glasuur-opasiteite tussen die FAS- en kontrolegroep was nie betekenisvol nie en het rondom 15% vir beide gewissel. Die opasiteite is hoofsaaklik gesien in maksillêre sentrale snytande en mandibulêre eerste molare. Meer as driekwart van beide groepe het plaak getoon, en byna tweederdes het gingivale bloeding met sondering gehad. Die gevallegroep het statisties betekenisvol meer (p<O.OO1) dentofasiale anomalieë getoon. Die gemiddelde dmft telling vir die FAS groep was effens hoër, alhoewel nie betekenisvol nie, as die kontrolegroep, en die "delayed" (vertraagde erupsie) komponent (d) het die grootste deel van die indeks uitgemaak in beide groepe. Geen van die FAS kinders het enige afwesige tande (m) of hers telde tande (f) gehad nie, soos ook gevind in die kontrolegroep. Nege-en-dertig kinders (21.67%) van die totale monster was kariesvry. Bespreking: Hierdie studie verteenwoordig een van die grootste monstergroottes tot op datum waarin ondersoek ingestel is na die kraniofasiale en mond- en tandmanifestasies van die fetale alkoholsindroom. Twee-en-veertig persent van die FAS monster het vertraagde groei getoon en dit was statisties-betekenisvol (p<O.OOOl)vergeleke met die kontrolegroep. Antropometriese analise van die gesig steun die vele kliniese beskrywings van neonatale blootstelling aan alkohol, en bied ook nuwe perspektiewe op die FAS gesigsfenotipe. Die kenmerkende dismorfiese gesigseienskappe wat gevind word, sluit ptose van die boonste ooglede, epikantusvoue, kort opgedraaide neus, dun vermiljoen rand van die bolip en 'n gladde filtrum in. In die geheel was die analise van die karies data ten opsigte van verskille tussen gevalle en kontroles onopvallend. Die afwesigheid van 'n verskil in die primêre en sekondêre gebitte in die gevalle en kontroles kon in hierdie bevolking verwag gewees het as gevolg van die hoë voorkoms van tandkaries onder kinders in die Weskaap. Die FAS kinders het betekenisvol-laer gebitouderdomme gehad as die kontrolegroep. Gebitmaturasie is in geringe maar deurlopende mate vertraag in kinders met vertraagde ontwikkelings, soos voorheen al getoon, en is daarom nie verbasend vir die FAS kinders in hierdie studie nie. Verskille tussen skeletale ouderdom en chronologiese ouderdom is gevind in beide seuns en dogters, maar in die geheel het dié huidige groepe (FAS en kontroles) min variasie in skeletale ontwikkeling getoon. Dit wil voorkom of afmetings wat verband hou met die gesigshoogte en grootte van die mandibula die belangrikste is om FAS kinders van die kontrolegroep te onderskei. Meeste (5 uit 8) van die diskriminerende lineêre afmetings wat bestudeer is, lê op die voorkant van die skedel. Die meeste is vertikale afmetings, terwyl slegs twee lyne tussen sagte weefsel punte. Waneer die fotografiese analises van die gesigseienskappe vergelyk word met die sefalometriese waarnemings, word gevind dat die vier gesigseienskappe tipies van 'n FAS kind 'n Positiewe Voorspelbare Waarde (PVW) van 92% en 'n Negatiewe Voorspelbare Waarde (NVW) van 90% het, en die agt lineêre afmetings vanaf die sefalometriese analise 'n PVW van 92% en 'n NPV van 95% het. Daar kan dus afgelei word dat die eksterne gesigseienskappe waarskynlik meer betroubaar is om te onderskei tussen die twee groepe. Vir verdere analise behoort ander modelle waar 'n enkel hoekige afmeting 'n kombinasie van lineêre afmetings verduidelik, ondersoek te word. Dit mag die diskriminerende vermoëns van sefalometriese afmetings in die geheel verder bevorder. Gevolgtrekking: Hierdie studie het die belang van orale en kraniofasiale eienskappe van FAS getoon. Die toestand kan nie langer as 'n seldsame en eienaardige aandoening van kinders beskou word nie, en bewustheid en herkenning van fetale alkoholsindroom pasiënte is belangrik sodat hulle korrek gediagnoseer en op gepaste wyse verwys kan word. Die tandarts wat FAS pasiënte behandel, moet besef dat sulke pasiënte emosioneel en geestelik belemmer mag wees en dus hantering en behandeling bemoeilik. Daar mag 'n behoefte ontstaan vir gedragsmodifikasie enlofpremedikasie voor herstellende behandeling. Verder moet die tandarts bewus wees van die behoefte aan 'n akkurate mediese geskiedenis, en moontlik konsultasie met 'n geneesheer, voor behandeling veilig ingestel kan word.