Chan, Ka Ying. / Thesis (M.Phil.)--Chinese University of Hong Kong, 2009. / Includes bibliographical references (leaves 133-150). / Abstract also in Chinese. / ABSTRACT --- p.i / 摘要 --- p.iii / ACKNOWLEDGEMENTS --- p.iv / CONTRIBUTORS --- p.vi / TABLE OF CONTENTS --- p.vii / LIST OF TABLES --- p.x / LIST OF FIGURES --- p.xi / LIST OF ABBREVIATIONS --- p.xiii / Chapter SECTION I: --- BACKGROUND --- p.1 / Chapter CHAPTER 1: --- PRENATAL DIAGNOSIS OF FETAL TRISOMY 21 --- p.2 / Chapter 1.1 --- Down syndrome --- p.2 / Chapter 1.2 --- Current methods of prenatal diagnosis of fetal trisomy 21 --- p.3 / Chapter 1.2.1 --- Non-invasive procedures --- p.3 / Chapter 1.2.2 --- Invasive procedures --- p.5 / Chapter 1.3 --- Alternative methods for the prenatal diagnosis of fetal trisomy 21 --- p.7 / Chapter CHAPTER 2: --- CELL-FREE FETAL NUCLEIC ACIDS IN MATERNAL PLASMA --- p.13 / Chapter 2.1 --- Circulating fetal cells --- p.15 / Chapter 2.2 --- Circulating cell-free fetal nucleic acids --- p.15 / Chapter 2.3 --- Diagnostic applications of cell-free fetal nucleic acids in maternal plasma --- p.17 / Chapter 2.4 --- Digital relative chromosome dosage approach --- p.20 / Chapter 2.5 --- Validation of digital RCD approach on artificial DNA mixtures --- p.22 / Chapter SECTION II --- : MATERIALS AND METHODS --- p.25 / Chapter CHAPTER 3: --- QUANTITATIVE ANALYSIS OF NUCLEIC ACIDS --- p.26 / Chapter 3.1 --- Subject recruitment and sample collection --- p.26 / Chapter 3.2 --- Sample processing --- p.26 / Chapter 3.3 --- Nucleic acid extraction --- p.27 / Chapter 3.3.1 --- Extraction of DNA from placental tissues --- p.27 / Chapter 3.3.2 --- Extraction of DNA from maternal blood cells --- p.27 / Chapter 3.4 --- Matrix-assisted laser desorption/ionisation time-of-flight mass spectrometry (MALDI-TOF MS) --- p.28 / Chapter 3.5 --- Paralogous sequence assays optimisation workflow --- p.31 / Chapter 3.5.1 --- Monoplex paralogous sequence assays --- p.31 / Chapter 3.5.2 --- Multiplex paralogous sequence assay --- p.38 / Chapter 3.6 --- Digital PCR --- p.42 / Chapter 3.6.1 --- Principle --- p.42 / Chapter 3.6.2 --- Digital multiplex paralogous sequence assay --- p.42 / Chapter 3.7 --- Statistical analysis --- p.46 / Chapter 3.7.1 --- Disease classification of samples --- p.46 / Chapter 3.7.2 --- Poisson distribution --- p.46 / Chapter 3.7.3 --- Data analysis --- p.48 / Chapter 3.7.4 --- Sequential probability ratio test (SPRT) analysis --- p.49 / Chapter SECTION III: --- ASSAY DEVELOPMENT --- p.53 / Chapter CHAPTER 4: --- TESTING OF ASSAY SPECIFICITY WITH CORIELL CELL LINES --- p.54 / Chapter 4.1 --- Coriell cell lines --- p.54 / Chapter 4.2 --- Specificity of initial PCR primers --- p.56 / Chapter 4.2.1 --- Principle --- p.56 / Chapter 4.2.2 --- Materials and methods --- p.56 / Chapter 4.2.3 --- Results --- p.60 / Chapter 4.2.4 --- Conclusion --- p.63 / Chapter 4.3 --- Specificity of the iPLEX® Gold extension primers --- p.63 / Chapter 4.3.1 --- Principle --- p.63 / Chapter 4.3.2 --- Materials and methods --- p.64 / Chapter 4.3.3 --- Results --- p.65 / Chapter 4.4 --- Further analysis on the specificity of PV2107a initial PCR primers --- p.67 / Chapter 4.5 --- Conclusion --- p.71 / Chapter CHAPTER 5: --- ASSAY OPTIMISATION --- p.72 / Chapter 5.1 --- Introduction --- p.72 / Chapter 5.2 --- Optimisation of initial PCRs with AmpliTaq Gold® DNA polymerase followed by homogeneous MassEXTEN´DёØ (hME) assays (Sequenom) --- p.72 / Chapter 5.2.1 --- Optimisation of initial PCR reactions --- p.72 / Chapter 5.2.2 --- Principle of homogeneous MassEXTEN´DёØ assays (Sequenom)… --- p.75 / Chapter 5.2.3 --- Homogeneous MassEXTEN´DёØ assays (Sequenom) on euploid and T21 samples --- p.76 / Chapter 5.3 --- Assay selection by iPLEX® Gold single base primer extension reactions (Sequenom) --- p.82 / Chapter 5.4 --- Optimisation of multiplex PCR with AmpliTaq Gold® DNA polymerase --- p.88 / Chapter 5.5 --- Optimisation of multiplex iPLEX® Gold single base primer extension reaction --- p.93 / Chapter 5.6 --- Single molecule detection test for the multiplex paralogous sequence assays … --- p.103 / Chapter SECTION IV: --- ANALYSIS OF CLINICAL SAMPLES --- p.107 / Chapter CHAPTER 6: --- DISEASE CLASSIFICATION OF EUPLOID AND TRISOMY SAMPLES WITH MULTIPLEX PARALOGOUS SEQUENCE ASSAY --- p.108 / Chapter 6.1 --- Introduction --- p.108 / Chapter 6.2 --- Materials and methods --- p.109 / Chapter 6.2.1 --- Sample collection --- p.109 / Chapter 6.2.2 --- Experimental design --- p.110 / Chapter 6.3 --- Results --- p.111 / Chapter 6.4 --- Discussion --- p.114 / Chapter SECTION V: --- CONCLUDING REMARKS --- p.122 / Chapter CHAPTER 7: --- CONCLUSION AND FUTURE PERSPECTIVES --- p.123 / Chapter 7.1 --- Conclusion --- p.123 / Chapter 7.2 --- Future perspectives --- p.124 / Appendix 1 --- p.126 / Appendix II --- p.127 / REFERENCE --- p.133

The purpose of this study was twofold: 1) To analyze the similarities and differences between parent responses to the birth and rearing of a child with Down syndrome and; 2) To document the characteristics of grieving described in Engel's 3-stage model of grieving. A questionnaire was used to assess responses from randomly chosen parent members of the Dallas Down Syndrome Guild. Qualitative data analysis was conducted, using the methodology of triangulation.

Thesis (MEdPsych)--University of Stellenbosch, 2005. / ENGLISH ABSTRACT: The study was undertaken to identify internal and external assets of a ten year- old girl with Down Syndrome. The assets include those of the individual and the broader community. The learner’s assets, in her immediate environment, was difficult to identify because of minimal exposure to community activities. A list of assets were compiled and the 40 Developmental Assets as researched by the “Searched Institute of Minneapolis” (Roehlkepartain & Leffert, 2000), served as key elements for the cartographic listing of the assets of the learner with Down Syndrome. In this research, the asset-based approach was used as a framework. A qualitative research design was used for the research where the learner was observed in her natural environment. The learner was observed at school and at home with the aim to identify assets. During the research the parents as well as the school was empowered by shifting their focus from the learner’s needs and shortcomings to the learner’s strengths, abilities and talents. The identifying of the new assets will enable the learner to improve her socialising skills and allow her to improve her self-care. The results of the research show that the parents and the school developed a more positive attitude with regard to the identification and mobilization of assets of learners with disabilities. / AFRIKAANSE OPSOMMING: Die studie is onderneem om interne en eksterne bates by 'n leerder met Downsindroom te identifiseer. Die bates sluit nie net diè van die individu in nie, maar neem ook die bates wat in die breër gemeenskap bestaan, in ag. Die leerder se eksterne bates in haar onmiddellike omgewing was moeilik identifiseerbaar, omdat sy weinig blootgestel word aan gemeenskapsaktiwiteite. 'n Lys van bates is saamgestel en die 40 Ontwikkelingsbates soos deur die "Search Institute of Minneapolis" (Roehlkepartain & Leffert, 2000) nagevors, is as sleutelelemente gebruik vir die kartografering van die bates vir die leerder met Downsindroom. In hierdie navorsing is die bate-gebaseerde benadering as 'n raamwerk gebruik. 'n Kwalitatiewe navorsingsontwerp is vir hierdie navorsing gebruik waar die leerder in haar natuurlike omgewing waargeneem is. Die leerder is by die skool en by die huis waargeneem met die doel om bates te identifiseer. Tydens die navorsing is die ouers en die skool bemagtig deur hul fokus te verskuif vanaf die leerder se behoeftes en tekorte na die leerder se sterkpunte, vermoëns en talente. Die identifisering van die nuwe bates by die leerder sal haar sosialiseringsvaardighede verbeter en haar in staat stel om veral haar selfversorging te verbeter. Die resultate van die navorsing dui daarop dat die ouers en die skool 'n meer positiewe houding ontwikkel het ten opsigte van die identifisering en mobilisering van bates by leerders met gestremdhede.

Thesis (M. Med.(Paediatrics and Child Health)) -- University of Limpopo, 2019 / Background: Congenital heart disease (CHD) is a significant contributor to Under 5 Mortality rate(U5MR) in Limpopo. Atrioventricular septal defect (AVSD) is the best ascertained lesion in Limpopo and is strongly associated with Down syndrome. Few children from Limpopo with CHD including AVSD access cardiac diagnostic and surgical services. Objectives: The study aimed to enumerate, describe syndromes associated with AVSD and outcomes of children with AVSD at Pietersburg hospital. Methods: This is a Retrospective study of all children (n=80) diagnosed with AVSD from 1 January 2010 to 31 December 2014 at Pietersburg hospital. Data were drawn from echocardiogram reports and patient records. District Health Information Software (DHIS) data was used to obtain the number of live births per district during the 5 years study period. Results: Eight hundred and sixty six (n=866) patients had a first diagnosis of CHD confirmed on echocardiography and 80 (9.2%) of these had AVSD (an estimated 31.5% of expected cases of AVSD). Eighty four per cent (84%) of AVSD patients were associated with Down syndrome. 42/67 (63%) AVSD patients were referred for surgical assessment and of those 15/42 (36%) had surgery. The median interval between diagnosis and surgery was 13 months. Seventy five percent (n=50/67) of patients defaulted follow up. Conclusion: The study confirmed that most children with AVSD had associated Down syndrome and that the majority of children with AVSD from Limpopo do no access surgery. There is under referral of children with Down syndrome for screening of CHD.

Indiana University-Purdue University Indianapolis (IUPUI) / Down syndrome (DS) is caused by trisomy of human chromosome 21 (Hsa21) and occurs in ~1 of every 700 live births. Individuals with DS present craniofacial abnormalities, specifically an undersized, dysmorphic mandible which may lead to difficulty with eating, breathing, and speech. Using the Ts65Dn DS mouse model, which mirrors these phenotypes and contains three copies of ~50% Hsa21 homologues, our lab has traced the mandibular deficit to a neural crest cell (NCC) deficiency in the first pharyngeal arch (PA1 or mandibular precursor) at embryonic day 9.5 (E9.5). At E9.5, the PA1 is reduced in size and contains fewer cells due to fewer NCC populating the PA1 from the neural tube (NT) as well as reduced cellular proliferation in the PA1. We hypothesize that both the deficits in NCC migration and proliferation may cause the reduction in size of the PA1. To identify potential genetic mechanisms responsible for trisomic PA1 deficits, we generated RNA-sequence (RNA-seq) data from euploid and trisomic E9.25 NT and E9.5 PA1 (time points occurring before and after observed deficits) using a next-generation sequencing platform. Analysis of RNA-seq data revealed differential trisomic expression of 53 genes from E9.25 NT and 364 genes from E9.5 PA1, five of which are present in three copies in Ts65Dn. We also further analyzed the data to find that fewer alternative splicing events occur in trisomic tissues compared to euploid tissues and in PA1 tissue compared to NT tissue. In a subsequent study, to test gene-specific treatments to rescue PA1 deficits, we targeted Dyrk1A, an overexpressed DS candidate gene implicated in many DS phenotypes and predicted to cause the NCC and PA1 deficiencies. We hypothesize that treatment of pregnant Ts65Dn mothers with Epigallocatechin gallate (EGCG), a known Dyrk1A inhibitor, will correct NCC deficits and rescue the undersized PA1 in trisomic E9.5 embryos. To test our hypothesis, we treated pregnant Ts65Dn mothers with EGCG from either gestational day 7 (G7) to G8 or G0 to G9.5. Our study found an increase in PA1 volume and NCC number in trisomic E9.5 embryos after treatment on G7 and G8, but observed no significant improvements in NCC deficits following G0-G9.5 treatment. We also observed a developmental delay of embryos from trisomic mothers treated with EGCG from G0-G9.5. Together, these data show that timing and sufficient dosage of EGCG treatment is most effective during the developmental window the few days before NCC deficits arise, during G7 and G8, and may be ineffective or harmful when administered at earlier developmental time points. Together, the findings of both studies offer a better understanding of potential mechanisms altered by trisomy as well as preclinical evidence for EGCG as a potential prenatal therapy for craniofacial disorders linked to DS.

Indiana University-Purdue University Indianapolis (IUPUI) / Down syndrome (DS) is the result of trisomy of human chromosome 21 (Hsa 21) and occurs in approximately 1/700 live births. Mouse models of DS have been crucial in understanding the gene-phenotype relationships that underlie many DS anomalies. The Ts65Dn mouse model, trisomic for half of the Hsa 21 orthologs replicates many DS phenotypes including craniofacial alterations such as a small, dysmorphic mandible, midface, and maxilla. Other mouse models, such as the Ts1Rhr which contains a triplication of 33 Hsa 21 orthologs, have been used to better understand the genes responsible for craniofacial alterations. Our laboratory has demonstrated that the postnatal mandibular phenotype found in Ts65Dn mice can be traced back to an original neural crest cell (NCc) deficit in the developing first pharyngeal arch (PA1) at embryonic day 9.5 (E9.5). Furthermore, evidence suggested that both a proliferation deficit in the PA1 and a migration deficit in the NCC from the neural tube (NT) could be the mechanism behind this deficit. However, the molecular mechanisms behind these deficits remain to be elucidated. Due to the involvement of the Hsa 21 genes DYRK1A and RCAN1 in regulation of signaling pathways including NFATc (NFAT2), a transcription factor known to influence cellular proliferation and, later, bone development, we hypothesized that dysregulation of these genes could underlie the cellular deficit in the PA1. Furthermore, we hypothesized that targeting Dyrk1a by decreasing activity or available protein could ameliorate the established deficits. Through the use of RNA isolation techniques and cell culture systems of cell from the PA1 and NT of E9.5 Ts65Dn, Ts1Rhr, and control embryos, we established that trisomic genes Dyrk1a and Rcan1 ara dysregulated in both structures and that these two genes may interact. Furthermore, we established that a proliferation deficit in the Ts65Dn PA1 and a migration deficit in the Ts65Dn PA1 and NT exists at E9.5 and can be rescued to euploid levels in vitro with the addition of the Dyrk1a inhibitor, EGCG, a green tea polyphenol. We also confirmed that harmine, a more highly studied and specific Dyrk1a inhibitor, is capable of similar effects on proliferation of PA1 cell from E9.5 Ts65Dn embryos. Furthermore, when Ts65Dn pregnant mothers were treated with EGCG in vivo, the cellular deficit found in the developing E9.5 embryonic PA1 was rescued to near euploid volume and NCC number. Treatment with EGCG did not adversely impact litter size or embryonic development. Interestingly, euploid embryonic volume increased with EGCG treatment. Expression analysis of the E9.5 PA1 of EGCG treated Ts65Dn and control embryos revealed dysregulation of several genes involved in craniofacial and developmental pathways including Dyrk1a, Rcan1, Ets2 and members of the sonic hedgehog pathways. Our novel results provide a foundation for better understanding the molecular mechanisms of craniofacial development and may provide evidence-based therapeutic options to improve the quality of life for individuals with DS.

Vi har genomfört en kvalitativ intervjustudie om föräldrars erfarenheter av en vardag tillsammans med ett barn som har Downs syndrom, i synnerhet när det gäller barnets ungdomstid. Den insamlade empirin har tolkats med hjälp av Beckers (2006) teori om avvikelse, Goffmans (2001) teori om stigma samt Goffmans (2009) teori om interaktion i det vardagliga sociala livet. Föräldern ingår i ett allmänt system av normalitet, såsom övriga samhällsmedlemmar. Studiens fokus ligger på förälderns agerande utefter detta i förhållande till den situation som barnets funktionsnedsättning för med sig. Downs syndrom medför en utvecklingsstörning, vilket innebär att barnets kroppsliga och mentala utveckling inte alltid är i fas med varandra. En följd av detta är att småbarns- och ungdomstiden förlängs, vilket föräldrarna i vår studie upplever som en svårighet. Svårigheten ligger bland annat i att barnets självständighetsutveckling skiljer sig från det som i allmänhet anses vara normalt och därmed skiljer sig även förälderns roll i denna utveckling. Studien visar att föreställningar om normalitet ständigt är närvarande i föräldrarnas berättelser. / We have made a qualitative interview study about parents' experiences of every day life with a child who has Down syndrome, particularly with regard to the child's youth. The empirical data collected has been interpreted using Becker's (2006) theory of deviance, Goffman's (2001) theory of stigma and Goffman's (2009) theory of interaction in everyday social life. The parent are included in a general system of normality, just as any other member of society. The focus of the study is parent's acting in relation to normality and to the situation that the child's disability causes. Down syndrome results in a development disorder, which means that child's physical and mental development not always is in phase with each other. This causes an extension of the childhood and youth, which the parents in our study perceive as difficult. The difficulty lies among other things in that the child's development of independence differs from what is generally considered to be normal and that the parent's role in this development consequently also differs. The study shows that ideas of normality are constantly present in the parents' narratives.

Background: Assessment of dementia in adults with intellectual disabilities poses specific challenges. Firstly, there is a paucity of validated, standardised and appropriate neuropsychological assessments of memory for adults with intellectual disabilities. Secondly, there are difficulties determining whether performance on neuropsychological assessments are attributable to preexisting intellectual disabilities, ‘normal’ ageing or part of a dementing process. A systematic review was therefore carried out to examine if there are memory changes associated with ‘normal’ ageing in the Down syndrome population. Following this an exploratory empirical research project was undertaken to examine one aspect of construct validity (i.e. convergent validity) of an associative memory test in a sample of adults with intellectual disabilities. This research project is presented as a journal article titled ‘Convergent validity of the Visual Association Test (VAT) in adults with intellectual disabilities’. Methods: 40 participants aged between 18-45 years were recruited from Community Learning Disability Teams. Participants completed the VAT and subtests of the modified Cambridge Cognitive Examination (CAMCOG-DS). IQ was assessed using the Wechsler Adult Intelligence Scale, Fourth Edition (WAIS-IV). Correlational analysis of the test variables were carried out. Participants with a diagnosis of dementia were excluded from the study. Results: All participants performed well on the VAT irrespective of age, gender or IQ. It was well received by participants. No significant correlations were found between the VAT and the subtests of the CAMCOG-DS or with the subtests of the WAIS-IV. Therefore, there was no evidence of convergent validity with this test in this sample of participants. Conclusions: While the VAT was found to be an easy, quick test to use with people with intellectual disabilities and all participants scored above ‘floor’ level, it was not found to have convergent validity with the CAMCOG-DS. Further research is needed to determine if the VAT represents a useful tool for assessment with this population.

Thesis (MMus) -- University of Stellenbosch, 2003. / ENGLISH ABSTRACT: There is a growing interest in the investigation of the value of music to the development of cognitive, social, personal and motor skills pertaining to infants. Research has shown that the inclusion of music in intervention programs for physically and cognitively disabled children could have a positive influence on the development of several of their skills. Against this background the reactions and development of four children with Down syndrome from a school for the disabled in Bellville were investigated from a holistic point of view during their participation in a music stimulation program. The music stimulation program presented in this study was compiled after consulting existing well-proven music appreciation programs for non-disabled children. Some of the activities extracted from these programs were adjusted where necessary. At times nonmusical activities were also combined with music in order to address a diversity of skills by means of music. Results after the completion of the program indicated that music has the potential to enhance the development of several skills and intelligences, as identified and described by Gardner (1983), of children with Down syndrome. Although it was difficult to determine whether music was responsible for some of the improvements that were observed, the results from this study indicated that children with Down syndrome can benefit from a structured music stimulation program. / AFRIKAANSE OPSOMMING: Die waarde van musiek ten opsigte van die ontwikkeling van kognitiewe, sosiale, persoonlike en motoriese vaardighede by kleuters word toenemend ondersoek. Navorsing het getoon dat die insluiting van musiek by intervensieprogramme vir fisies en kognitief gestremde kinders die ontwikkeling van verskeie vaardighede positief kan beïnvloed. Teen hierdie agtergrond IS die reaksies en ontwikkeling van vier kinders met Downsindroom vanuit 'n holistiese oogpunt tydens deelname aan 'n musiekstimuleringsprogram ondersoek. Hierdie kinders het 'n skool vir gestremdes in Bellville bygewoon. Die musiekstimuleringsprogram wat tydens die studie gebruik is, is saamgestel deur bestaande musiekwaarderingsprograrnme vir nie-gestremde kleuters wat oor 'n aantal jare beproef is te raadpleeg en, waar nodig, die aktiwiteite aan te pas. Nie-musikale aktiwiteite is soms met musiek gekombineer ten einde 'n verskeidenheid van vaardighede deur middel van musiek aan te spreek Die resultate van die voltooiing van die program het daarop gedui dat musiek die potensiaal het om 'n positiewe invloed op die ontwikkeling van verskeie vaardighede en intelligensies, soos geïdentifiseer en beskryf deur Gardner (1983), op kinders met Downsindroom uit te oefen. Hoewel dit soms moeilik was om te bepaal of musiek verantwoordelik was vir sommige van die verbeterings wat opgemerk is, het dit uit die resultate van hierdie studie geblyk dat kinders met Downsindroom kan baat vind by 'n gestruktureerde musiekstimuleringsprogram.

Thesis (M Sport Sc (Sport Science)--University of Stellenbosch, 2010. / ENGLISH ABSTRACT: Functional fitness refers to the physical capacity to perform normal everyday activities safely and independently without undue fatigue. More specifically, functional fitness refers to having adequate strength, flexibility, mobility and endurance to execute essential tasks efficiently and effortlessly. Being functionally fit is important for all populations, but even more so for populations at risk for loosing functional capacity such as the elderly, disabled, and those with chronic medical conditions. Down syndrome individuals form part of the intellectually disabled population and show even more marked reductions in physical and functional capacities when compared to this already functionally limited population. Most DS individuals live sedentary lives, are obese, and age prematurely. For these reasons it is important to develop their functional capacities optimally. Although standardised tests are available for youngsters with intellectual disability, this is not the case for DS individuals. This study therefore endeavoured to describe the physical and functional fitness capacity of DS adults and to determine how much individual physical attributes contribute to functional capacity. 17 items, of which the validity and reliability have been determined, were included in the test battery. This included 2 balance tests, 2 flexibility tests, 2 coordination tests, 5 muscular strength and endurance tests, 2 functional tasks and an aerobic test. A total of 371 individuals from DS centres and institutions across seven provinces in South Africa volunteered to participate in the study. The study sample was categorised according to gender and four different age groups (18-25, 26-35, 36-45, >45 years) for further analysis. DS men were taller, heavier and had a greater arm span and sitting height than DS women. The majority of the participants were either overweight or obese. DS men performed significantly better on all but three tests compared to the women. The women performed better on the sit- and- reach flexibility test and the chair stand test, however, differences were not statistically significant. Physical test items correlated significantly and strongly to functional performance in 9 items for DS men and 5 items for DS women. Importantly, balance items correlated stronger with functional performance in DS women than in DS men. This is not a new finding and suggests that separate training programs should be developed for DS men and DS women. This is the first study of its kind in South Africa and confirms the findings of previous studies that DS adults have both low physical and functional capacities. They are particularly weak in terms of basic endurance and strength, which have been shown are trainable variables in DS individuals. The study also provides valuable criterion referenced values for an adult DS population. This information will assist health professionals in tailoring appropriate training programs to address functional limitations, as well as the negative health consequences associated with ageing. This special population thus need the assistance of sport scientists, as well as the community, to integrate them into special training and activity programs to improve their quality of life. / AFRIKAANSE OPSOMMING : Funksionele fiksheid verwys na die fisieke kapasiteit om alledaagse aktiwiteite op ‘n veilige en onafhanklike wyse uit te voer sonder om oormatige vermoeienis te ervaar. Meer spesifiek beteken funksionele fiksheid dat ‘n person voldoende krag, lenigheid, beweeglikheid en uithouvermoë besit om essensiële take doeltreffend en moeiteloos te voltooi. Alle populasies behoort funksioneel fiks te wees, maar dit is self meer belangrik vir populasies wat die risiko het om hul funksionele kapasiteit te verloor, soos bejaardes, persone met gestremdhede en diegene met kroniese mediese toestande. Down sindroom individue is deel van die populasie met intellektueel gestremdhede en hulle het selfs meer fisieke en funksionele beperkinge as die intellektueel gestremdes. Die meeste persone met DS het ‘n onaktiewe leefstyl, is vetsugtig en ervaar premature veroudering. Vir hierdie redes is dit uiters belangrik om hulle funksionele kapasiteit optimaal te ontwikkel. Hoewel gestandaardiseerde toetse beskikbaar is vir jong persone met intellektueel gestremdhede, is dit nie die geval met DS individue nie. Hierdie studie was ‘n poging om die fisieke en funksionele fiksheidkapasiteit van DS volwassenes te beskryf en te bepaal tot watter mate fisieke eienskappe funksionele kapasiteit bepaal. 17 items, waarvan die geldigheid en herhaalbaarheid bepaal is, is ingelsuit in die toetsbattery. Dit het die volgende ingesluit: 2 balanstoetse, 2 lenigheidstoetse, 2 koordinasietoetse. 5 spierkrag en uithouvermoë toetse, 2 funksionale take en een aërobiese toets. ‘n Totaal van 371 individue van DS sentrums en instellings in sewe provinsies in Suid Afrika het vrywillig ingestem om aan die studie deel te neem. Die steekproef is volgens geslag en ouderdom in vier kategorieë verdeel (18-25, 26-35, 36-45, >45 jaar) vir verdere analise. DS mans was langer, swaarder en het ‘n langer armlengte en sithoogte gehad as DS vroue. Die meerderheid van die deelnemers was of oorgewig of vetsugtig. DS mans het beduidend beter as die vroue gevaar in al die toetse, behalwe drie. Die vroue het beter gevaar in die sit en strek lenigheidstoets en die stoel opstaan toets, maar die verskille was nie statisties betekenisvol nie. Nege fisieke toetsitems vir mans het sterk en betekenisvol gekorreleer met funksionele kapasiteit, terwyl 5 items vir vroue betekenisvolle korrelasies gewys het. Balans items het sterker met funksionele kapasiteit in vroue as in mans gekorreleer. Hierdie is nie ‘n nuwe bevinding nie en bevestig dat verskillende oefenprogramme vir DS mans en vroue ontwikkel moet word. Hierdie is die eerste studie van sy soort in Suid Afrika en bevestig die resultate van vorige studies dat DS volwassenes beide lae fisieke en funksionele kapasiteite het. Hulle is veral swak ten opsigte van basiese uithouvermoë en spierkrag, maar beide hierdie veranderlikes kan by DS persone ingeoefen word. Hierdie studie voorsien ook waardevolle kriterium verwysingswaardes vir ‘n volasse DS populasie. Hierdie inligting kan persone in die gesondheidsberoepe help om gepaste oefenprogramme saam te stel om die funksionele beperkings en negatiewe gesondheidsgevolge wat met veroudering geassosieer word, aan te spreek. Hierdie spesiale populasie benodig dus die hulp van sportwetenskaplikes, sowel as die gemeenskap, om hulle te integreer in spesiale oefen- en aktiwiteitsprogramme om sodoende hulle kwaliteit van lewe te verbeter.