Down syndrome (DS) is the most common chromosomal disorder in humans. It is associated with various medical, social and developmental issues affecting all stages of life. Most people with DS now live to adulthood. However, limited data is available on the medical and social concerns and the impacts on their quality of life. In this study, my primary aim was to study the health-related quality of life (HRQoL) of Chinese with DS in Hong Kong. Secondarily, 2 other important aspects of medical care and counseling for people with DS were explored: the level of satisfaction in the transition from paediatric to adult medical care, and how language choice in medical settings can be of great significance to caretakers and families. In collaboration with Hong Kong Down Syndrome Association, a proxy-assessment survey was designed and administered to parents or caregivers of people with DS. I used the Health Utilities Index (HUI) to measure the HRQoL of people with DS. Logistic Regression Model was employed to estimate the associations between HRQoL scores and various physical and developmental-behavioural morbidities. The findings on the survey of service satisfaction and sensitive language are summarized quantitatively. I recruited 116 Chinese people with DS (n = 63 male; age ranged from 5 to 53). More than 50% of the subjects scored in the severe range on the HUI disability scale. Behavioural problems (HUI2) and hearing problems (HUI2 and HUI3) were statistically significant predictors (p-value<0.05) for a less favorable HRQoL score. A statistically significant inverse dose response relationship was observed between the HRQoL scores and the number of developmental-behaviour problems, as well as the number of chronic health problems. Satisfaction of service rated by caretakers reveals that >80% felt accessibility and coordination of both medical and social service were better when the subjects were in their childhood. Sixty percent felt that transition care is lacking and nearly 90% felt that caring for a person with DS is more difficult as they age. For the exploratory survey on language choice in medical setting, most participants rated ‘成為負擔 become a burden’ (82%), ‘冇用 useless’ (77%), ‘冇希望 hopeless’ (77%) and ‘唔正常 abnormal’ (76%) as offensive. Alternative words suggested include ‘可能需要特別指導及訓練 may need special guidance and training’ and ‘特殊 special’ instead of ‘成為負擔 become a burden’ and ‘唔正常 abnormal’ respectively. On the other hand, the least rated offensive words were ‘染色體異常 chromosome deviant’ (35%), “發育遲緩 growth delay” (35%) and ‘傷殘人士 handicapped person’ (34%). Medical and social issues addressed will be useful for health care providers, genetic counselors, and parents or caregivers to gain a broader perspective of the realistic outcome of individuals with DS under the healthcare infrastructure available in Hong Kong. This knowledge is important to inform expectations of families, improve communication between families and health care professionals, and to facilitate the design of targeted interventions to improve quality of life for people with this common genetic disorder. / published_or_final_version / Obstetrics and Gynaecology / Master / Master of Medical Sciences

published_or_final_version / Journalism and Media Studies Centre / Master / Master of Journalism

Phonological awareness is a set of language manipulation skills such as blending, rhyme, alliteration production and detection. There are disagreements among researchers how phonological awareness is connected to literacy learning and also how and if children with Down syndrome acquire phonological awareness. The specific phenotype of Down syndrome shows deficits in both short term memory and language development. It is therefore of great concern to investigate how children with Down syndrome acquire phonological awareness and later on literacy. The PhonicStick is a joystick that generates speech sounds. In this study, the PhonicStick was used in phonological awareness intervention in children with Down syndrome. It was compared to intervention with Praxis cards – an already existing picture material in Swedish speech and language therapy. The aim of the study was to investigate if children with Down syndrome can improve phonological awareness during a six week period, and if this was the case, was there a difference in effectiveness between the materials. Six children with Down syndrome participated in this cross-over study. The results indicated that some children can acquire phonological awareness during a six week period. However, it was not possible to address the effectiveness to a certain material. The preference among the children to play with PhonicStick, showed that this is a material that motivates the children to participate in intervention. If the PhonicStick is adapted to this population of children with Down syndrome, this material can be used for phonological awareness intervention in children with Down syndrome.

Down syndrome (DS) is the most common genetic cause of mental challenge in individuals and is associated with many ocular disorders. One of these anomalies which is frequently present in this population is reduced accommodation and many studies have reported this. Accommodation is the ability of the crystalline lens in the eye to focus for objects at different distances. Prescribing bifocals could potentially help in correcting the resultant inaccurate focus, although this modality of treatment is not very commonly practiced. The impact of bifocals on reading and literacy skills (academic skills) as well as visual-perceptual skills in individuals with DS has not been studied previously. The aim of this study was to investigate the impact of bifocals on the educational attainment of children and young adults with DS who have reduced accommodation and monitor their performance longitudinally. This is the first time that the impact of bifocal provision on the functional performance of children and young adults with DS has been studied. Also for the first time in children with DS, frequent measures of performance have been used to control for progression with time before and after bifocal prescription. A battery of tests comprising early literacy and visual-perceptual skills was administered before and after bifocal prescription. Accommodation and printing skills were also measured periodically. It was expected that the prescription of bifocals would help to improve near visual acuity and that the improved near acuity would result in educational achievements at school. Compliance with spectacle wear and school reports were also considered. A longitudinal observational study design was utilized with each child acting as his/her own control. Fourteen children and teenagers aged 8-18 with DS were recruited and underwent a basic optometric exam including measurement of their accommodative ability and a cycloplegic refraction. Seventy nine percent required a change in their spectacle prescription and were prescribed single vision (SV) lenses. One hundred percent had reduced accommodation both before and after new SV glasses were prescribed. Distance visual acuity did not significantly improve with SV lenses (p>0.05) but near visual acuity showed a significant improvement (p-=0.015) from 0.64±0.25 logMAR to 0.54±0.20 logMAR. A high prevalence of high refractive errors, including both hyperopia and myopia, was observed t andnear visual acuity even with a habitual correctionwas reduced compared to distance VA. A full battery of reading and visual-perceptual tests was administered with SV lenses. Thereafter the participants were followed for 6 months and monthly subtests (probes) of literacy skills and printing tasks were administered. These “probes” acted as immediate indicators of the child’s performance with his/her correction and change in performance over this time period was monitored. Over the 6 months the participants showed no noteworthy progression in their literacy skills. The group of participants performed at an age-equivalent between 3-10 years. The quality of printing formation in this population has been studied for the first time and showed no significant change over time. It was observed that some aspects of visual-perceptual and early literacy skills could be measured in all the participants. Chronological age and receptive vocabulary were significantly correlated with visual motor integration and Word Identification. Eighty five percent of the participants were prescribed bifocals with additions ranging from +1.00D to +3.50D at the 6th month after the provision of SV lenses. Post-bifocal measures of visual acuity, accommodation, visual-perceptual and early literacy skills were taken 1-2 weeks, and finally 5 months, after bifocal correction. Throughout the pre- and post-bifocal period, verbal compliance with spectacle wear was assessed through school and parental reports. The mean near logMAR VA improved with bifocals (p=0.007) compared to SV lenses. Accommodative accuracy improved with bifocals (less accommodative lag) compared to SV lenses (p=0.002) but there was no change in the accommodation exerted through the distance portion of the lens compared to SV lenses (p=0.423). There was a main effect of bifocals on sight words (p=0.013), Word Identification (p=0.047), and 2 out of 3 tests of visual perception (p<0.05). It was observed that bifocals have a positive impact on the children’s visual and school performance and this was supported by reports of improved performance in school for nine out of eleven individuals who were prescribed bifocals. The children adapted to bifocals more readily than the SV glasses, wearing them for the majority of their waking time. All the sessions of early literacy and visual-perceptual skills administered throughout the duration of the study were videotaped and were then analyzed by a naïve examiner. The time taken to perform each task was calculated and compared between the main single vision and bifocal visits. There was a significant decrease in the completion times on the test battery with bifocals for Word Identification (p=0.0015) and the Dolch sight words (p=0.048). All participants who completed the monthly probes took less time to complete the Dolch sight words (p= 0.025) and the number writing task (p=0.001) with bifocals. Similar results were not observed for the visual-perceptual tests. Performance in the monthly probes was compared before and after bifocal prescription in terms of the average raw scores and time taken. The rate of improvement in performance with bifocals was calculated by plotting the test scores against time and determing the regression lines. There was an overall significant improvement in the monthly probe scores of Word Identification (p=0.050), Dolch sight words (p=0.025) and the number test (p=0.023) with bifocals. The rate of progression in scores increased with bifocals for the Word Identification (p=0.008). Evidence of improved and faster performance with bifocals on some literacy skills was seen. It was concluded that bifocals, which result in improved near focusing, help individuals with DS to maximize their educational potential. It is suggested that more children and teenagers with DS will benefit from bifocal prescription, as they were observed to improve near visual acuity and enable better focusing for near. This thesis has provided a comprehensive analysis of the some tests of literacy, visual- perceptual and early printing skills before and after a bifocal prescription in a group of children and teenagers with Down syndrome. This is the first study to longitudinally monitor the educational impact of bifocals in a population with Down syndrome. Furthermore, the quality of printing formation in this population is a previously unstudied area and was studied longitudinally prior to and after bifocal intervention. The impact of bifocals on printing skills is also discussed. Another novel approach was that all the literacy, writing and visual-perceptual tasks sessions were videotaped to calculate the time taken to complete each task pre- and post-bifocals. This thesis is an addition to the existing literature on bifocal prescription in Down syndrome populations. From the findings in this thesis, the following recommendations are made in order to improve the standard of clinical eye care in this population. Measurement of accommodation should be considered a routine test in the clinical ocular examination for young individuals with DS, now that it is known that many of them present with accommodative deficits. When accommodation is found to be reduced, prescription of bifocals is indicated and should also become the standard of care in this population.

Examining responses to violations of communication may provide insight into children’s communicative competencies not apparent during reciprocal interactions. In this study, the caregivers of 18-month-old typically developing children, 30-month-old children with autism spectrum disorder (ASD), and 30-month-old children with Down syndrome followed our suggestion to playfully violate communication with their children in two contexts: requesting and social interacting. Caregivers of children with ASD made fewer bids and violations, which their children accepted less often than typically developing children; they also used instrumental behaviors more often when responding. Children with Down syndrome responded to their caregivers similarly to typically developing children, and used more high-level communicative behaviors in the requesting, versus social interacting, context. This study highlights the bidirectional nature of parent-child interactions, and suggests that violations of communication may serve as a “press” to elicit child behaviors not present during reciprocal communication.

The effects of a gymnastic unit on stereotypic, on-task, and off task behaviors of two children with Autism Spectrum Disorders (ASD), and two children with Down syndrome were examined using structured teaching, based on adaptations by the TEACCH model. Structured teaching consisted of individual pictorial activity schedules and work systems. The stereotypic, on-task, and off task behaviors were observed during three phases: baseline, treatment, and post-treatment. / Inter-rater reliability of stereotypic, on-task, and off task behaviors was 82.2%. The results indicated reductions on the levels of stereotypic behaviors of both participants with ASD, while no significant changes were observed in the levels of on-task behaviors for these participants. This was probably due to the fact that the gymnastic unit was fairly structured even before the implementation of the treatment. No effects were found on the levels of on-task behaviors of both participants with Down syndrome.

Introduction: Due to limited research within KwaZulu-Natal there is a deficit in the knowledge base and understanding surrounding the dynamics of caring for a child diagnosed with Down syndrome. The study aims to inform health professionals who adopt a psychosocial approach, such as occupational therapist, in an effort to improve the therapy and handling of the caregivers and children. Methodology: A sequential explanatory mixed method approach with an interpretive phenomenological perspective was utilized. Sampling utilized non-probability methods from the Down syndrome Association (KwaZulu-Natal) database. An initial quantitative descriptive survey (n=57) guided the subsequent qualitative phase encompassing focus groups and interviews (n=18). Quantitative data was statistically analyzed using SPSS (version 21) and the transcribed quantitative data utilized thematic analysis with in vivo, emotions and descriptive coding. Results and Discussion: Experiences were primarily influenced by initial reactions of the participants; their level of knowledge of the syndrome and reactions to informing their family and community. Thereafter the positive and negative aspects of raising the child affected their perceptions. Conclusion: Many factors contributed to the participants‟ perceptions of raising a child with Down syndrome, namely: community and family attitudes; support structures available; positive factors such as personal growth as well as negative factors such as the erratic health of the child and difficulties with inter-personal relationships. However; an overall positive perception was reported by the participants, with an emphasis on advice to other caregivers based on lived experience. / Thesis (M.O.T.)-University of KwaZulu-Natal, Durban, 2013.

CHAPTER 1 - POSTULATION OF PROBLEM, PURPOSE, METHOD AND PROGRAM OF STUDY: 1. Postulating the problem - The following problematical questions are investigated in this study:- a. Are there specific skills in which the trainable mentally retarded Down's Syndrome child is inferior to and/or more improved than other trainable mentally retarded groups? b. To what extent can the Down's Syndrome children participate in the same training program when grouped together? c. In which skills do Down's Syndrome children show the greatest train= ability? d. Is there a remarkable inferiority or progress in social competence, when compared with trainable Down's Syndrome and other trainable children in the training centre? 2. Aim of study - The following aims have been set for this study: a. to discover in which skills Down's Syndrome children have the great test inferiority and in which skills they show the greatest possibility of improvement. This means the question of the trainability of the Down's Syndrome child; b. to discover the grouping criteria which are used to classify the child with Down's Syndrome and all the other trainable children in the training centre; c. the criteria used by the different centres to promote a trainable child to the following class or group; d. to set a theoretical framework for a training program, which is based on the findings in this study, for trainable Down's Syndrome children; e. to find out what training facilities are available to the trainable Down's Syndrome child and to make some recommendations in this context. 3. Study method - In this study the descriptive method is used. The setting of a theoretical framework about the existing knowledge on the trainable Down's Syndrome child in the training centres is based on the following:- a. Study of literature: The most reliable sources of literature on the topic of this study are found in research results of American and British researchers; b. Empirical research: Questionnaires were sent to all the training centres in the Republic to collect information about the inferiority and/or progress in certain skills in Down's Syndrome children, grouping criteria and training programs for them. The program of study is set out in the last part of chapter 1. CHAPTER 2 - CONCEPTUALIZATION IN GENERAL: The following impediment categories were discussed in the first part of the chapter: motor, sensory, behaviouristic, mental and emotional impediments. The most important points of discussion are the concepts: educability and trainability of mentally retarded children. In the second part of this chapter the concepts: education ("opvoeding"); instruction ("onderwys”); training ("opleiding"); educability (“opvoedbaarheid”); trainability ("opleibaarheid") and untrainability (“onopleibaarheid") are discussed. 1. Educable and trainable mentally retarded - The Mentally Retarded Children's Act (Act No. 63 of 1974) refers to the child in the special class and special school as the educable mentally retarded and the child who is certified as uneducable as the trainable mentally retarded. The child in the institution is referred to as the untrainable mentally retarded. 2. Educability - Educability refers to the child's ability to gain from scholastic activities such as writing, reading and arithmetic and to transfer these skills with insight to practical situations. 3. Trainability - The trainable mentally retarded child's cognitive processes are concrete operational and cannot reach the abstract stage. Trainability therefore implies the possibility of making progress in the following skills: self-help, communication, socialization and occupation. 4. Untrainability - The child's inability to progress from the skills named in par. 3 and to succeed in adaptation to the social environment characterise the untrainable child who receives custodial care in an institution. CHAPTER 3 - DOWN 1S SYNDROME OR MONGOLISM: In comparing a few terms: Mongolism, Unfinished child, Acromicria, G1-Trisomy and Downs’ Syndrome, the latter is preferable, because it prevents a stigma which is sometimes attached to the syndrome and it also gives the syndrome a scientific dignity. 1. Etiology of Down’s Syndrome: 1.1 Endogenic factors - The possibility of studying chromosomal behaviour through the developments of new cytologic techniques leads to the study of the cell nucleus in the metaphase of mitosis during which period an exact counting of the chromosomes and observations on their structural patterns is possible. Through two methods: tissue and peripheral blood culture studies three subtypes of Down’s Syndrome are distinguishable:- a. Trisomy 21: This condition is the result of a faulty division of the 21-chromosome pair. The child with trisomy Down’s Syndrome has three, rather than the normal two chromosomes in pair 21. b. Translocation: Children with translocation Down’s Syndrome have an extra number 21- chromosome which has broken and become attached to the same or another chromosome pair. A parent can carry a translocation without showing any symptoms of disease because the parent still carries the correct amount of genetic material, although some of it is out of place (translocated). c. Mosaicism: A child with mosaic Down's Syndrome has 46 chromosomes in some cells and 47 in other cells of his body. 1.2 Exogenetic factors - Disfunctioning of the Pituitary and Thyroid glands causes a hormonal maladjustment in the mother during pregnancy, which can result in the birth of a Down's Syndrome child. Research has shown that a high percentage of Down's Syndrome children have been born from mothers between 30 and 45 years of age. Bad health and a shortage of vitamine A during pregnancy can also cause Down's Syndrome. 2. Clinical diagnosis at birth: Although Down's Syndrome cannot be diagnosed only by a few clinical features without a cytogenetic investigation, these features are especially visible in the first years of life of the Down's Syndrome child. The following physical stigmata are very prominent: hypotonia, disorders in the growth of the skull, a short nose with a flat bridge, anomalies of the palate, a small oral cavity with a protruding fissured tongue, abnormally small teeth, slanting eyes, speckling of the iris, anomalies of the external ears, one rather straight line crosses the palm of the hand instead of the two curved lines of the normal hand, an abnormal space between the first and second fingers and toes, a congenital heart defect and malformed sexual organs. In the last part of this chapter the typical developmental traits of the Down's Syndrome child from birth to approximately 6 years of age are discussed. CHAPTER 4 - CHARACTERISTICS OF THE DOWN'S SYNDROME CHILD'S PERSONALITY: Firstly in this chapter the mental development of the Down's Syndrome child is discussed. The conclusion is reached that the intellectual development is as characteristic as the slow motory development and that the quality of his intelligence is different in comparison with other trainable mentally retarded children. A significant connection between physical, stigmata and intelligence could not be found, The next discussion is devoted to the connection between subtype of Down's Syndrome and intelligence. Although several researchers found that the mosaic Down's Syndrome child has a higher intelligence than the other two subtypes, insufficient research has been done in this field. It has been found that 95% of all Down's Syndrome children are cheerful, but about 5% are stubborn. Social competence and mimicry lend themselves par excellence in training this child. Language development is discussed to show the Down's Syndrome child's inferiority in this characteristic. In the last part of this chapter it is pain= ted out that the Down’s Syndrome child is also backward in motory and sensory development. CHAPTER 5 - DIMENSIONS OF MENTAL RETARDATION IN DOWN'S SYNDROME: The differentiation between educable and trainable mentally retarded children is discussed in chapter 2. I.Q.-groups between 0 and 80 are discussed here to put the Down's Syndrome child in the mental hierarchy:- 1. Educable mentally retarded (I.Q. 50 - 80) - The educable mentally retarded child can't keep up the pace with the normal school program and has thus been placed in a special class or special school. Although there are Down's Syndrome children who are educable they still have great problems in mastering scholastic, motory and speech skills and non-visual tasks. 2. Trainable mentally retarded (I.Q. 30 - 50) - Although the child in the training centre is uneducable in scholastic skills, progress has been seen in the following skills: self-help, communication, socialization and occupation. 3. Untrainable mentally retarded (I.Q. 0 - 30) - The child who is retarded to such a degree that he can't see to his own needs and safety, must receive custodial care in an institution. CHAPTER 6 - THERAPY AND DOWN'S SYNDROME: This chapter deals with the following therapeutic programs:- 1. Medicinal therapy: a. Thyroid treatment has a positive effect in improving the dry skin, thick rippled tongue, coarse voice and sluggishness. b. Vitamine B12 must be administered with other medicaments to stimulate growth in the Down's Syndrome child. c. Pituitary-hormone treatment stimulate this gland to release growth hormones. 2. Music therapy: An outstanding characteristic of the trainable mentally retarded Down's Syndrome child is his receptivity for rhythm and music. This therapeutic medium must be used by parents and teachers to stimulate the gross motor co-ordination and auditory acuity of the Down's Syndrome child. 3. Speech therapy: language development is the trainable mentally retarded Down's Syndrome child's greatest inferiority. His ability for mimicry is the starting point for acquiring speech skills. The daily therapy sessions must include blowing•, sucking• and chewing exercises to better tongue and lip activities. A few practical implications for the training of the Down's Syndrome child are discussed in par. 6.7. CHAPTER 7 - EMPIRICAL RESEARCH: QUESTIONNAIRE: Different aspects, as well as the course of the empirical research, are discussed in this chapter. The descriptive method is selected as the scientific method for this research project. A questionnaire was composed to gather information on the set classification methods and training programs for the child with Down's Syndrome in training centres in the Republic. Firstly in this chapter the questionnaire is motivated as the most suitable scientific research method to deal with the topic of this study. The composition and application, respondents and returns are discussed afterwards. A prerequisite for significant diversions was set at a minimum return of 70% completed questionnaires. A follow-up letter was sent when the return was 63%. Telephone calls to the remaining respondents lifted the return percentage to 71%, so that the set criterium was reached. CHAPTER 8 - TRAINING FACILITIES FOR THE TRAINABLE MENTALLY RETARDED DOWN'S SYNDROME CHILDREN: In this chapter attention is especially devoted to responses in connection with the total number of trainable mentally retarded Down's Syndrome children in the training centres, different school departments and the average number of children in groups in the centres. 1. Occurrence of trainable mentally retarded Down's Sindrome children: Questionnaires were sent to 31 training centres in the Republic. Areturn of 71% (22) questionnaires was obtained. A number of 264 (20,3%) Down's Syndrome children and 1 037 (79,7%) other trainable mentally retarded children are enrolled in 21 (68% respondents} training centres, so that the total number is 1 301 trainable mentally retarded children. 2. School departments: The training centres are organized in the following departments (the number of centres which have a certain department are given in brackets): nursery class (10}, adaptation class (10), junior class (12), senior class (11). 3. Average number of children in different groups The 68% centres that completed this item in the questionnaire reported an average of 14 children in a group. The conclusion is also reached that the trainable mentally retarded Down's Syndrome child shows the best progress when he receives sufficient stimulation in the early years at home. Ways of maintenance of the centres up to 1/4/75 is discussed in the last part of the chapter. CHAPTER 9 - GROUPING CRITERIA FOR THE TRAINABLE MENTALLY RETARDED DOWN'S SYNDROME CHILDREN: Grouping criteria for the trainable mentally retarded children, general differences in skills between Down's Syndrome and other trainable children and promoting criteria for trainable mentally retarded children are discussed in this chapter. 1. Grouping criteria for the trainable mentally retarded children: Responses show that 27% of the respondent's grade I.Q. as an important grouping criterium. The I.Q.'s of only 36% of the children in the centres are known by members of staff. Chronological age is graded as an important criterium by 73% respondents, mental age by 32%, visual-motor skills by 45% and social competence by 50% of the respondents. 2. Differences in skills between Down's Syndrome and non-Down's Syndrome trainable mentally retarded groups of children: No difference is noticed in visual-motor skills by 40% respondents. Down's Syndrome children are graded weaker in these skills by 18% respondents. As seen by 5% respondents, Down’s Syndrome children are much better in self-help skills, 10% as better, 40%•as the same and 5% respondents as weaker than other trainable children in the centres. In connection with scholastic work the Down's Syndrome child is seen as the same by 40% respondents, weaker by 10% and much weaker by 5% respondents. Social competence is graded as much better by 18% respondents, better by 23%, the same by 14% and weaker by 5% respondents. 3. Promoting criteria for trainable mentally retarded children: Visual-motor skills are the most important promoting criterium, as graded by training centres. Chronological age is placed second. CHAPTER 10 - A TRAINING PROGRAM FOR THE TRAINABLE MENTALLY RETARDED DOWN'S SYNDROME CHILDREN IN THE TRAINING CENTRE: In this chapter the necessity for a special adapted training program for the trainable mentally retarded Down's Syndrome children, differences in skills between Down's Syndrome children of the same chronological age, psychometric media to determine the functioning of different skills are discussed. Based on this knowledge a training program for the trainable mentally retarded Down’s Syndrome child is set out. 1. The necessity for a special adapted training program for the trainable mentally retarded Down's Syndrome child: A special or adapted training program for the trainable Down’s Syndrome children is suggested by 40% respondents. Another 40% respondents believe that Down’s Syndrome children can take part in the same program (without adaptation) with other trainable children, while 20% respondents did not respond to this item. Information collected from literature and the rest of the empirical research, however, shows without any doubt that the trainable mentally retarded Down's Syndrome child is inferior in certain skills (see par. 10. 2.2) and shows possibilities for improvement in other skills, when compared with other trainable children. The conclusion is therefore reached that a specially adapted program must be set for the Down's Syndrome child to give more opportunity for stimulation in skills in which he is inferior, 2. Differences in skills amongst Down's syndrome children of the same chronological age: Responses show that 45% respondents notice great individual differences amongst Down's Syndrome children of the same chronological age; 32% respondents see no markable differences in skills and 23% respondents did not respond to this item. Individual differences amongst trainable Down's Syndrome children are not denied, but specific inferiorities in motory, auditory, language and tactual skills are present in all the trainable mentally retarded Down's Syndrome children. 3. Psychometric media to determine the functioning level of certain skills: It is concluded that the Stanford-Binet Intelligence Scale, the Merrill Palmer Scale and the Goodenough-Harris Drawing Test (elaborated from the Goodenough-Draw-a-Man Test) can, after adaptation to South African circumstances, be used as intelligence scales to differentiate between educable, trainable and untrainable children. The Vineland Social Maturity Scale and the Gunzburg Progress Assessment Charts must be used to determine the improvement in connection with the following skills: self-help, knowledge of his own body and perception, communication, socialization and occupation. 4. Trainability: Responses demonstrated that the mental age of the trainable Down's Syndrome children is increasable with implementing of a training program which takes the specific inferiorities and improvement possibilities of certain skills into consideration. The Down's Syndrome child is therefore trainable to quite a large extent. CHAPTER 11 - SUMMARY, CONCLUSIONS AND RECOMMENDATIONS: In this chapter recommendations in connection with training facilities, grouping criteria, a training program and other possible research subjects are discussed. / Thesis (MEd)--PU for CHE

CHAPTER 1 - POSTULATION OF PROBLEM, PURPOSE, METHOD AND PROGRAM OF STUDY: 1. Postulating the problem - The following problematical questions are investigated in this study:- a. Are there specific skills in which the trainable mentally retarded Down's Syndrome child is inferior to and/or more improved than other trainable mentally retarded groups? b. To what extent can the Down's Syndrome children participate in the same training program when grouped together? c. In which skills do Down's Syndrome children show the greatest train= ability? d. Is there a remarkable inferiority or progress in social competence, when compared with trainable Down's Syndrome and other trainable children in the training centre? 2. Aim of study - The following aims have been set for this study: a. to discover in which skills Down's Syndrome children have the great test inferiority and in which skills they show the greatest possibility of improvement. This means the question of the trainability of the Down's Syndrome child; b. to discover the grouping criteria which are used to classify the child with Down's Syndrome and all the other trainable children in the training centre; c. the criteria used by the different centres to promote a trainable child to the following class or group; d. to set a theoretical framework for a training program, which is based on the findings in this study, for trainable Down's Syndrome children; e. to find out what training facilities are available to the trainable Down's Syndrome child and to make some recommendations in this context. 3. Study method - In this study the descriptive method is used. The setting of a theoretical framework about the existing knowledge on the trainable Down's Syndrome child in the training centres is based on the following:- a. Study of literature: The most reliable sources of literature on the topic of this study are found in research results of American and British researchers; b. Empirical research: Questionnaires were sent to all the training centres in the Republic to collect information about the inferiority and/or progress in certain skills in Down's Syndrome children, grouping criteria and training programs for them. The program of study is set out in the last part of chapter 1. CHAPTER 2 - CONCEPTUALIZATION IN GENERAL: The following impediment categories were discussed in the first part of the chapter: motor, sensory, behaviouristic, mental and emotional impediments. The most important points of discussion are the concepts: educability and trainability of mentally retarded children. In the second part of this chapter the concepts: education ("opvoeding"); instruction ("onderwys”); training ("opleiding"); educability (“opvoedbaarheid”); trainability ("opleibaarheid") and untrainability (“onopleibaarheid") are discussed. 1. Educable and trainable mentally retarded - The Mentally Retarded Children's Act (Act No. 63 of 1974) refers to the child in the special class and special school as the educable mentally retarded and the child who is certified as uneducable as the trainable mentally retarded. The child in the institution is referred to as the untrainable mentally retarded. 2. Educability - Educability refers to the child's ability to gain from scholastic activities such as writing, reading and arithmetic and to transfer these skills with insight to practical situations. 3. Trainability - The trainable mentally retarded child's cognitive processes are concrete operational and cannot reach the abstract stage. Trainability therefore implies the possibility of making progress in the following skills: self-help, communication, socialization and occupation. 4. Untrainability - The child's inability to progress from the skills named in par. 3 and to succeed in adaptation to the social environment characterise the untrainable child who receives custodial care in an institution. CHAPTER 3 - DOWN 1S SYNDROME OR MONGOLISM: In comparing a few terms: Mongolism, Unfinished child, Acromicria, G1-Trisomy and Downs’ Syndrome, the latter is preferable, because it prevents a stigma which is sometimes attached to the syndrome and it also gives the syndrome a scientific dignity. 1. Etiology of Down’s Syndrome: 1.1 Endogenic factors - The possibility of studying chromosomal behaviour through the developments of new cytologic techniques leads to the study of the cell nucleus in the metaphase of mitosis during which period an exact counting of the chromosomes and observations on their structural patterns is possible. Through two methods: tissue and peripheral blood culture studies three subtypes of Down’s Syndrome are distinguishable:- a. Trisomy 21: This condition is the result of a faulty division of the 21-chromosome pair. The child with trisomy Down’s Syndrome has three, rather than the normal two chromosomes in pair 21. b. Translocation: Children with translocation Down’s Syndrome have an extra number 21- chromosome which has broken and become attached to the same or another chromosome pair. A parent can carry a translocation without showing any symptoms of disease because the parent still carries the correct amount of genetic material, although some of it is out of place (translocated). c. Mosaicism: A child with mosaic Down's Syndrome has 46 chromosomes in some cells and 47 in other cells of his body. 1.2 Exogenetic factors - Disfunctioning of the Pituitary and Thyroid glands causes a hormonal maladjustment in the mother during pregnancy, which can result in the birth of a Down's Syndrome child. Research has shown that a high percentage of Down's Syndrome children have been born from mothers between 30 and 45 years of age. Bad health and a shortage of vitamine A during pregnancy can also cause Down's Syndrome. 2. Clinical diagnosis at birth: Although Down's Syndrome cannot be diagnosed only by a few clinical features without a cytogenetic investigation, these features are especially visible in the first years of life of the Down's Syndrome child. The following physical stigmata are very prominent: hypotonia, disorders in the growth of the skull, a short nose with a flat bridge, anomalies of the palate, a small oral cavity with a protruding fissured tongue, abnormally small teeth, slanting eyes, speckling of the iris, anomalies of the external ears, one rather straight line crosses the palm of the hand instead of the two curved lines of the normal hand, an abnormal space between the first and second fingers and toes, a congenital heart defect and malformed sexual organs. In the last part of this chapter the typical developmental traits of the Down's Syndrome child from birth to approximately 6 years of age are discussed. CHAPTER 4 - CHARACTERISTICS OF THE DOWN'S SYNDROME CHILD'S PERSONALITY: Firstly in this chapter the mental development of the Down's Syndrome child is discussed. The conclusion is reached that the intellectual development is as characteristic as the slow motory development and that the quality of his intelligence is different in comparison with other trainable mentally retarded children. A significant connection between physical, stigmata and intelligence could not be found, The next discussion is devoted to the connection between subtype of Down's Syndrome and intelligence. Although several researchers found that the mosaic Down's Syndrome child has a higher intelligence than the other two subtypes, insufficient research has been done in this field. It has been found that 95% of all Down's Syndrome children are cheerful, but about 5% are stubborn. Social competence and mimicry lend themselves par excellence in training this child. Language development is discussed to show the Down's Syndrome child's inferiority in this characteristic. In the last part of this chapter it is pain= ted out that the Down’s Syndrome child is also backward in motory and sensory development. CHAPTER 5 - DIMENSIONS OF MENTAL RETARDATION IN DOWN'S SYNDROME: The differentiation between educable and trainable mentally retarded children is discussed in chapter 2. I.Q.-groups between 0 and 80 are discussed here to put the Down's Syndrome child in the mental hierarchy:- 1. Educable mentally retarded (I.Q. 50 - 80) - The educable mentally retarded child can't keep up the pace with the normal school program and has thus been placed in a special class or special school. Although there are Down's Syndrome children who are educable they still have great problems in mastering scholastic, motory and speech skills and non-visual tasks. 2. Trainable mentally retarded (I.Q. 30 - 50) - Although the child in the training centre is uneducable in scholastic skills, progress has been seen in the following skills: self-help, communication, socialization and occupation. 3. Untrainable mentally retarded (I.Q. 0 - 30) - The child who is retarded to such a degree that he can't see to his own needs and safety, must receive custodial care in an institution. CHAPTER 6 - THERAPY AND DOWN'S SYNDROME: This chapter deals with the following therapeutic programs:- 1. Medicinal therapy: a. Thyroid treatment has a positive effect in improving the dry skin, thick rippled tongue, coarse voice and sluggishness. b. Vitamine B12 must be administered with other medicaments to stimulate growth in the Down's Syndrome child. c. Pituitary-hormone treatment stimulate this gland to release growth hormones. 2. Music therapy: An outstanding characteristic of the trainable mentally retarded Down's Syndrome child is his receptivity for rhythm and music. This therapeutic medium must be used by parents and teachers to stimulate the gross motor co-ordination and auditory acuity of the Down's Syndrome child. 3. Speech therapy: language development is the trainable mentally retarded Down's Syndrome child's greatest inferiority. His ability for mimicry is the starting point for acquiring speech skills. The daily therapy sessions must include blowing•, sucking• and chewing exercises to better tongue and lip activities. A few practical implications for the training of the Down's Syndrome child are discussed in par. 6.7. CHAPTER 7 - EMPIRICAL RESEARCH: QUESTIONNAIRE: Different aspects, as well as the course of the empirical research, are discussed in this chapter. The descriptive method is selected as the scientific method for this research project. A questionnaire was composed to gather information on the set classification methods and training programs for the child with Down's Syndrome in training centres in the Republic. Firstly in this chapter the questionnaire is motivated as the most suitable scientific research method to deal with the topic of this study. The composition and application, respondents and returns are discussed afterwards. A prerequisite for significant diversions was set at a minimum return of 70% completed questionnaires. A follow-up letter was sent when the return was 63%. Telephone calls to the remaining respondents lifted the return percentage to 71%, so that the set criterium was reached. CHAPTER 8 - TRAINING FACILITIES FOR THE TRAINABLE MENTALLY RETARDED DOWN'S SYNDROME CHILDREN: In this chapter attention is especially devoted to responses in connection with the total number of trainable mentally retarded Down's Syndrome children in the training centres, different school departments and the average number of children in groups in the centres. 1. Occurrence of trainable mentally retarded Down's Sindrome children: Questionnaires were sent to 31 training centres in the Republic. Areturn of 71% (22) questionnaires was obtained. A number of 264 (20,3%) Down's Syndrome children and 1 037 (79,7%) other trainable mentally retarded children are enrolled in 21 (68% respondents} training centres, so that the total number is 1 301 trainable mentally retarded children. 2. School departments: The training centres are organized in the following departments (the number of centres which have a certain department are given in brackets): nursery class (10}, adaptation class (10), junior class (12), senior class (11). 3. Average number of children in different groups The 68% centres that completed this item in the questionnaire reported an average of 14 children in a group. The conclusion is also reached that the trainable mentally retarded Down's Syndrome child shows the best progress when he receives sufficient stimulation in the early years at home. Ways of maintenance of the centres up to 1/4/75 is discussed in the last part of the chapter. CHAPTER 9 - GROUPING CRITERIA FOR THE TRAINABLE MENTALLY RETARDED DOWN'S SYNDROME CHILDREN: Grouping criteria for the trainable mentally retarded children, general differences in skills between Down's Syndrome and other trainable children and promoting criteria for trainable mentally retarded children are discussed in this chapter. 1. Grouping criteria for the trainable mentally retarded children: Responses show that 27% of the respondent's grade I.Q. as an important grouping criterium. The I.Q.'s of only 36% of the children in the centres are known by members of staff. Chronological age is graded as an important criterium by 73% respondents, mental age by 32%, visual-motor skills by 45% and social competence by 50% of the respondents. 2. Differences in skills between Down's Syndrome and non-Down's Syndrome trainable mentally retarded groups of children: No difference is noticed in visual-motor skills by 40% respondents. Down's Syndrome children are graded weaker in these skills by 18% respondents. As seen by 5% respondents, Down’s Syndrome children are much better in self-help skills, 10% as better, 40%•as the same and 5% respondents as weaker than other trainable children in the centres. In connection with scholastic work the Down's Syndrome child is seen as the same by 40% respondents, weaker by 10% and much weaker by 5% respondents. Social competence is graded as much better by 18% respondents, better by 23%, the same by 14% and weaker by 5% respondents. 3. Promoting criteria for trainable mentally retarded children: Visual-motor skills are the most important promoting criterium, as graded by training centres. Chronological age is placed second. CHAPTER 10 - A TRAINING PROGRAM FOR THE TRAINABLE MENTALLY RETARDED DOWN'S SYNDROME CHILDREN IN THE TRAINING CENTRE: In this chapter the necessity for a special adapted training program for the trainable mentally retarded Down's Syndrome children, differences in skills between Down's Syndrome children of the same chronological age, psychometric media to determine the functioning of different skills are discussed. Based on this knowledge a training program for the trainable mentally retarded Down’s Syndrome child is set out. 1. The necessity for a special adapted training program for the trainable mentally retarded Down's Syndrome child: A special or adapted training program for the trainable Down’s Syndrome children is suggested by 40% respondents. Another 40% respondents believe that Down’s Syndrome children can take part in the same program (without adaptation) with other trainable children, while 20% respondents did not respond to this item. Information collected from literature and the rest of the empirical research, however, shows without any doubt that the trainable mentally retarded Down's Syndrome child is inferior in certain skills (see par. 10. 2.2) and shows possibilities for improvement in other skills, when compared with other trainable children. The conclusion is therefore reached that a specially adapted program must be set for the Down's Syndrome child to give more opportunity for stimulation in skills in which he is inferior, 2. Differences in skills amongst Down's syndrome children of the same chronological age: Responses show that 45% respondents notice great individual differences amongst Down's Syndrome children of the same chronological age; 32% respondents see no markable differences in skills and 23% respondents did not respond to this item. Individual differences amongst trainable Down's Syndrome children are not denied, but specific inferiorities in motory, auditory, language and tactual skills are present in all the trainable mentally retarded Down's Syndrome children. 3. Psychometric media to determine the functioning level of certain skills: It is concluded that the Stanford-Binet Intelligence Scale, the Merrill Palmer Scale and the Goodenough-Harris Drawing Test (elaborated from the Goodenough-Draw-a-Man Test) can, after adaptation to South African circumstances, be used as intelligence scales to differentiate between educable, trainable and untrainable children. The Vineland Social Maturity Scale and the Gunzburg Progress Assessment Charts must be used to determine the improvement in connection with the following skills: self-help, knowledge of his own body and perception, communication, socialization and occupation. 4. Trainability: Responses demonstrated that the mental age of the trainable Down's Syndrome children is increasable with implementing of a training program which takes the specific inferiorities and improvement possibilities of certain skills into consideration. The Down's Syndrome child is therefore trainable to quite a large extent. CHAPTER 11 - SUMMARY, CONCLUSIONS AND RECOMMENDATIONS: In this chapter recommendations in connection with training facilities, grouping criteria, a training program and other possible research subjects are discussed. / Thesis (MEd)--PU for CHE

The purpose of this thesis is to query the legitimacy of offering preimplantation genetic diagnostic (PGD) testing against Down's syndrome on the basis of United Kingdom (UK) law and policies. I will argue that extending PGD testing for Down’s syndrome as a permissible use of this technology does not (straightforwardly) adhere with the Human Fertilisation and Embryology Authority (HFEA) Code of Practice's stated factors which are to be considered when assessing the appropriateness of PGD applications. Indeed, due consideration of the evidence given in the relevant literature about the capacities and quality of life possible for persons living with Down's syndrome would seriously call into question the validity of a positive judgment recommending PGD as a treatment service for Down's syndrome according to the current UK regulatory instruments. I end the thesis by considering why the HFEA's relatively recent decision to limit client access according to an exclusive list of "serious" and therefore "in principle" test-worthy genetic conditions—understood as legitimate applications for PGD—stands to entrench prejudice, stigma, social bias, and unfair discrimination against the disadvantaged social group of persons living with Down's syndrome.