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.

Computer vision techniques for human motion analysis have the potential to significantly improve the monitoring of motor rehabilitation processes. With respect to traditional marker-based techniques, computer vision offers both portability and low-cost. This thesis describes methods that have been designed for the analysis of the motor skills of subjects with Down's syndrome. More specifically, the motion of interest is weight-shifting; this motion plays an important role in the safety of locomotory activities, as well as of other daily actions. From a theoretical viewpoint, the thesis proposes several new concepts for human motion analysis and describes their algorithmic implementation, as well as their applicability to the detection and description of several motion primitives. The thesis introduces the concept of curved bounding box, which is an extension of the rectangular bounding box that is typically used for detection and tracking of rigid motion. This concept is successfully applied to the detection of deformable motion, such as arm, knee and upper body motions. A new technique for identifying subject-representative patterns of motion is also proposed. This technique is based on Motion History Images, which hold both analytical and visualization power.

Šeimos gydytojai ir bendruomenės slaugytojai bendradarbiaudami su šeimomis, kuriose auga vaikai su Dauno sindromu, savo praktikoje susiduria su pakankamai sudėtingomis situacijomis, kuomet tenka pasirūpinti ne tik vaiko su negalia poreikiais, bet taip pat ir visa šeima. Gimus vaikui su negalia, kai šeima yra pasimetusi ir išgyvena sunkų laikotarpį savo gyvenime, tenka į tai jautriau atsižvelgti ir stengtis jiems padėti prisitaikyti prie naujų gyvenimo sąlygų, nes nėra geresnio būdo padėti vaikui, kaip stiprinti tėvų galimybes tai padaryti jiems patiems. Specialistų bendradarbiavimas su šeima, padedant susiorientuoti pagalbos sistemoje ir atrasti tinkmiausius pagalbos būdus, yra pagrindas siekiant visapusiškos gerovės vaikui bei abipusio pasitenkinimo teikiamų paslaugų kokybe. / Family doctors and community nurses, collaborating with families raising children with Down syndrome, encounter quite complicated situations in practice, when they must take care not only for the needs of the disabled child, but for the whole family as well. After the birth of a child with a disability, when the family is confused and experiencing difficult period, there appears a great need of external sensitivity and assistance for the family to adapt to new conditions of its life, because there is no better way to help the child, as to enhance parents’ ability to do it by themselves. Professionals’ collaboration with the family, by helping to orientate in the support system and to find the most suitable ways of support, is the basis for a comprehensive welfare of the child and for mutual satisfaction with quality of services provided.

No description available.

No description available.

Bibliography: leaves 223-229. / xiii, 229 leaves : ill. ; 30 cm. / Title page, contents and abstract only. The complete thesis in print form is available from the University Library. / This thesis considers several aspects of multivariate analysis motivated by the South Australian prenatal Down's syndrome screen, which seeks to identify those pregnancies at high risk to Down's syndrome from several risk factors, amongst them maternal age and measurements from four analyte concentrations found in maternal blood. The primary aim is to discriminate between the unaffected and affected pregnancies in terms of these observed risk factors. Through the development of multivariate regression models it is examined how the Mahalanobis distance might be decomposed into distances that give more insight into where the discrimination is derived and how this might change with the gestational age at which the analyte concentrations are measured. A second multivariate aspect motivated by the screen surrounds the detection of directional outliers and the incorporation of knowledge of likely departures into the outlier identification technique. A method is also developed to account for misreporting in inferences of gestational age. Similarities with measurement error and misclassification models are explored. / Thesis (Ph.D.)--University of Adelaide, Dept. of Statistics, 1998?

Children with Down syndrome (DS) are reported to experience difficulty with spoken and written language which can persist through the lifespan. However, little is known about the spoken and written language profiles of children with DS in the New Zealand social and education environment, and a thorough investigation of these profiles has yet to be conducted. The few controlled interventions to remediate language deficits in children with DS that are reported in the literature typically focus on remediation of a single language domain, with the effectiveness of interventions which integrate spoken and written language goals yet to be explored for this population. The experiments reported in this thesis aim to address these areas of need. The following questions are asked 1) What are the phonological awareness, speech, language and literacy skills of New Zealand children with DS? 2) What are the home and school literacy environments of New Zealand children with DS and how do they support written language development? and 3) What are the immediate and longer term effects of an integrated phonological awareness intervention on enhancing aspects of spoken and written language development in young children with DS? These questions will be addressed through the following chapters. The first experiment (presented in Chapter 2) was conducted in two parts. Part 1 consisted of the screening of the early developing phonological awareness, letter knowledge, and decoding skills of 77 primary school children with DS and revealed considerable variability between participants on all measures. Although some children were able to demonstrate mastery of the phoneme identity and letter knowledge skills, floor effects were also apparent. Data were analysed by age group (5 - 8 years and 9 -14 years) which revealed increased performance with maturation, with older children outperforming their younger peers on all measures. Approximately one quarter of all children were unable to decode any words, 6.6% demonstrated decoding skills at a level expected for 7 - 8 year old children and one child demonstrated decoding skills at an age equivalent level. Significant relationships between decoding skills and letter knowledge were found to exist. In Part 2 of the experiment, 27 children with DS who participated in the screening study took part in an in-depth investigation into their speech, phonological awareness, reading accuracy and comprehension and narrative language skills. Results of the speech assessments revealed the participants’ speech was qualitatively and quantitatively similar to the speech of younger children with typical development, but that elements of disorder were also evident. Results of the phonological awareness measures indicated participants were more successful with blending than with segmentation at both sentence and syllable level. Rhyme generation scores were particularly low. Reading accuracy scores were in advance of reading comprehension, with strong relationships demonstrated between reading accuracy and phonological awareness and letter knowledge. Those children who were better readers also had better language skills, producing longer sentences and using a greater number of different words in their narratives. The production of more advanced narrative structures was restricted to better readers. In the second experiment (presented in Chapter 3), the home literacy environment of 85 primary school aged children with DS was investigated. Parents of participants completed a questionnaire which explored the frequency and duration of literacy interactions, other ways parents support and facilitate literacy, parents’ priorities for their children at school, and the child’s literacy skills. Results revealed that the homes of participants were generally rich in literacy resources, and that parents and children read together regularly, although many children were reported to take a passive role duding joint story reading. Many parents also reported actively teaching their child letter names and sounds and encouraging literacy development in other ways such as language games, computer use, television viewing and library access. Writing at home was much less frequent than reading, and the allocation of written homework was much less common than reading homework. In the third experiment (presented in Chapter 4), the school literacy environment of 87 primary school aged children with DS (identified in the second experiment) was explored. In a parallel survey to the one described in Chapter 3, the teachers of participants completed a questionnaire which explored the frequency and duration of literacy interactions, the role of the child during literacy interactions, the child’s literacy skills, and other ways literacy is supported. The results of the questionnaire revealed nearly all children took part in regular reading instruction in the classroom although the amount of time reportedly dedicated to reading instruction was extremely variable amongst respondents. The average amount of time spent on reading instruction was consistent with that reported nationally and in advance of the international average for Year 5 children. Reading instruction was typically given in small groups or in a one on one setting and included both ‘top-down’ and bottom up’ strategies. Children were more likely to be assigned reading homework compared to written homework, with writing activities and instruction reported to be particularly challenging. In the fourth experiment (reported in Chapter 5), the effectiveness of an experimental integrated phonological awareness intervention was evaluated for ten children with DS, who ranged in age from 4;04 to 5;05 (M = 4;11, SD = 4.08 months). The study employed a multiple single-subject design to evaluate the effect of the intervention on participants’ trained and untrained speech measures, and examined the development of letter knowledge and phonological awareness skills. The 18 week intervention included the following three components; 1. parent implemented print referencing during joint story reading, 2. speech goals integrated with letter knowledge and phoneme awareness activities conducted by the speech-language therapist (SLT) in a play based format, and 3. letter knowledge and phoneme awareness activities conducted by the computer specialist (CS) adapted for presentation on a computer. The intervention was implemented by the SLT and CS at an early intervention centre during two 20 minute sessions per week, in two 6 week therapy blocks separated by a 6 week break (i.e. 8 hours total). The parents implemented the print referencing component in four 10 minute sessions per week across the 18 week intervention period (approximately 12 hours total). Results of the intervention revealed all ten children made statistically significant gains on their trained and untrained speech targets with some children demonstrating transfer to other phonemes in the same sound class. Six children demonstrated gains in letter knowledge and nine children achieved higher scores on phonological awareness measures at post-intervention, however all phonological awareness scores were below chance. The findings demonstrated that dedicating some intervention time to facilitating the participants’ letter knowledge and phonological awareness was not at the expense of speech gains. The fifth experiment (presented in Chapter 6) comprises a re-evaluation of the speech, phonological awareness, and letter knowledge, and an evaluation of the decoding and spelling development in children with DS who had previously participated in an integrated phonological awareness intervention (see Chapter 5), after they had subsequently received two terms (approximately 20 weeks) of formal schooling. Speech accuracy was higher at follow-up than at post-intervention on standardised speech measures and individual speech targets for the group as a whole, with eight of the ten participants demonstrating increased scores on their individual speech targets. Group scores on both letter knowledge measures were higher at follow-up than at post-intervention, with nine participants maintaining or improving on post-intervention performance. The majority of participants exhibited higher phonological awareness scores at follow-up on both the phoneme level assessments, with above chance scores achieved by five participants on one of the tasks, however, scores on the rhyme matching task demonstrated no evidence of growth. Some transfer of phonological awareness and letter knowledge was evident, with five children able to decode some words on the single word reading test and three children able to represent phonemes correctly in the experimental spelling task. The emergence of these early literacy skills highlighted the need for ongoing monitoring of children’s ability to transfer their improved phonological awareness and letter knowledge to decoding and spelling performance. In the sixth experiment (presented in Chapter 7) the long term effects of the integrated phonological awareness intervention was evaluated for one boy with DS aged 5;2 at the start of the intervention. The study monitored Ben’s speech and literacy development up to the age of 8;0 (34 months post pre-school intervention) which included two years of formal schooling. Ben demonstrated sustained growth on all measures with evidence of a growing ability to transfer letter-sound knowledge and phoneme-grapheme correspondences to the reading and spelling process. The results indicated an intervention which is provided early and which simultaneously targets speech, letter knowledge and phonological awareness goals provides a promising alternative to conventional therapy, and that integrating spoken and written therapy goals for children with DS can be effective in facilitating development in both domains. This thesis provides evidence that the spoken and written language abilities of New Zealand children with DS exhibit a pattern of delay and disorder that is largely consistent with those of children with DS from other countries reported in the literature. The home and school literacy environments of children in New Zealand with DS are rich in literacy resources and are, for the most part, supportive of their literacy development. The immediate and longer term results of the integrated phonological awareness intervention suggest that it is possible to achieve significant and sustained gains in speech, letter knowledge and phonological awareness which may contribute to the remediation of the persistent and compromised spoken and written language profile characteristic of individuals with DS.

Diss. (sammanfattning) Stockholm : Karolinska institutet, 2005. / Härtill 4 uppsatser.

Thesis (M.S.)--Missouri State University, 2008. / "May 2008." Includes bibliographical references (leaves 22-23). Also available online.

Thesis (Ph. D.)--CSULA-UCLA, 2008. / Vita. Includes bibliographical references (leaves 52-58).