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Case Studies Index

20 resources found.

  • Autoimmunity puzzle in Down syndrome
    Corin Badiu, Simona Verzea, Maria Picu and Cornelia Pencea
    One of the most common genetic abnormalities, Down syndrome is associated with intellectual disabilities as well as increased incidence of autoimmune diseases. Endocrine disorders, such as diabetes and thyroid dysfunction are amongst the most common. We describe the case of a 27 year old woman diagnosed with diabetes at the age of 9, who had associated crises of loss of consciousness from the age of 23 and developed primary autoimmune hypothyroidism from the age of 25 years with chronic pericardial effusion. Neurological examination considered the diagnosis of absence crises; therefore she started taking Carbamazepine 400 mg daily since the age of 23. At admission, the patient was obese (BMI =32 kg/m2), with neck localised acanthosis nigricans. The clinical examination revealed signs of hypothyroidism without goitre. Diagnosis was confirmed by TSH = 350 mUI/L, anti TPOAb = 329.9 U/ml as well as pericardial effusion on echocardiography. She started thyroxine replacement therapy, while being on basal/bolus insulin regimen (short and intermediate acting insulin). Full control of diabetes was not achieved until she also received metformin and basal insulin analog. TSH level reached normal values of 2.4 mU/L only after a LT4 substitution dose of 150 µg daily. Evolution of thyroid status and diabetes under progressive thyroxine substitutive treatment is discussed. Compliance to diet, diabetes and myxoedema treatment is severely influenced by her intellectual disabilities. Screening for thyroid status and autoimmunity in order to detect subclinical hypothyroidism, should be performed in patients with Down syndrome.
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    Down Syndrome Research and Practice. 2010. doi:10.3104/case-studies.2138
  • The coexistence of Down syndrome and a triad consisting of: coeliac disease, insulin dependent diabetes mellitus and congenital hypothyroidism
    Kamil Hozyasz, Beata Pyrzak and Marta Szymanska
    The incidence of immune mediated diseases and hormonal disturbances is increased in people with Down syndrome. However, there are only three published reports of the coexistence of thyroid disorder, insulin dependent diabetes mellitus and coeliac disease in children with Down syndrome. Here we describe a young male with Down syndrome who was diagnosed with congenital hypothyroidism, diabetes mellitus, and coeliac disease. The role of serological screening for coeliac disease in children with Down syndrome is discussed.
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    Down Syndrome Research and Practice. 2010. doi:10.3104/case-studies.2062
  • Exceptional writing in a young adult with Down syndrome
    Stephanie Markey and Pau-San Hoh
    Until recently, there have been few studies of language development in the Down syndrome population. Within the past fifteen years, studies have been done concerning the writing abilities of people with Down syndrome. None of these studies, however, have focused on a high functioning person with Down syndrome. This study demonstrates the ability of someone with Down syndrome to make incredible language achievements. I used my sister, Rose, as the subject of my study. Rose was born five years before me; at birth she was diagnosed with Down syndrome. I analysed 62 of Rose’s journal entries, dating from 1998 to 2005. From these journals, I was able to see the language accomplishments that she has made. These include metalinguistic awareness, correct sentence structure, correct use of parallelism, correct use of temporal phrases, correct use of conditional phrases, and an interesting narrative structure and writing persona. Rose has achieved incredible language accomplishments. This is due in part to the early intervention programme she completed, as well as her home atmosphere. There, she was given intensive treatment, and she was treated as a capable person, not a disabled individual.
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    Down Syndrome Research and Practice (Online). 2009. doi:10.3104/case-studies.2030
  • Down Syndrome and golf
    Victor Bishop
    Around age 10, if not hopefully way before, parents with a child with Down syndrome make the transition from therapy to sports and recreation; from aquatic therapy to swimming; from hippotherapy to horseback riding. It was readily apparent from Emmanuel’s first golf range practice that he had an innate ability to swing a golf club. It is in his genes. He is at a disadvantage with his typically developing peers that his father has never wielded a golf club in his life.
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    Down Syndrome Research and Practice. 2009. doi:10.3104/case-studies.2085
  • Parent-training in Narrative Language Intervention with children with Down syndrome: case study
    Lisa Schoenbrodt, Lisa Eliopoulos and Eleni Popomaronis
    The purpose of the present study was to introduce parent training as a method to increase narrative language production in their children with Down syndrome. Two children and their mothers participated in this intervention. Children were pre-tested using the Peabody Picture Vocabulary Test-III (PPVT-III) to measure receptive language abilities for a general indication of language abilities. In addition, an elicitation of a narrative language sample (story retell and story generation) was evaluated for mean length of utterance, number of communication units (C-units), as well as the presence or absence or narrative and story grammar elements. Parents participated in a training workshop and then completed the narrative training over a four-week period in their homes. Through two case studies, the effectiveness of this type of intervention in increasing overall language, but particularly narrative language elements, is demonstrated.
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    Down Syndrome Research and Practice (Online). 2008. doi:10.3104/case-studies.2056
  • Teaching spontaneous responses to a young child with Down syndrome
    Kathleen Feeley and Emily Jones
    Children with Down syndrome experience significant communication impairments, particularly in expressive language. Although receiving little attention in the literature, deficiencies in expressive language are likely to affect spontaneous communicative responses in children with Down syndrome. In this study, using a multiple baseline design across responses, we demonstrated the effectiveness of discrete trial instruction in establishing spontaneous responses in a preschooler with Down syndrome. Spontaneous responses generalised to a novel setting involving a novel person and novel materials. Implications for the use of behaviourally based interventions to address the social-communicative needs of children with Down syndrome are discussed.
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    Down Syndrome Research and Practice (Online). 2007. doi:10.3104/case-studies.2007
  • Strategies to address challenging behaviour in young children with Down syndrome
    Kathleen Feeley and Emily Jones
    Children with Down syndrome are at an increased risk for engaging in challenging behaviour that may present problems within community, leisure, and educational settings, and, in many instances, precludes them from accessing these environments. Factors contributing to the occurrence of challenging behaviours include characteristics associated with the Down syndrome behavioural phenotype, increased incidence of illness and sleep disorders, and the way in which individuals in their environment respond to their behaviours. In this paper we describe the use of behaviourally based intervention strategies to address some of the specific challenges often seen in young children with Down syndrome. Through a series of case studies, the effectiveness of evidence-based interventions addressing challenging behaviour is demonstrated.
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    Down Syndrome Research and Practice (Online). 2007. doi:10.3104/case-studies.2008
  • Obsessive Compulsive Disorder treatment in patients with Down syndrome: A case series
    Bruce Sutor, Mark Hansen and John Black
    In this case series we report four cases of patients with Down syndrome with symptoms consistent with obsessive compulsive disorder. Each patient experienced substantial reduction in compulsive behaviors with pharmacotherapy of an SSRI alone or with the addition of risperidone to SSRI therapy. None of the patients experienced significant side effects. This small case series supports the use of these medications in the treatment of co-morbid obsessive compulsive disorder in patients with Down syndrome.
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    Down Syndrome Research and Practice. 2006. doi:10.3104/case-studies.299
  • The passive in adolescents with Down syndrome: a case study
    Maraci Rubin
    This paper shows that some individuals with Down syndrome are capable of producing, imitating (repeating) and comprehending passive sentences, even though group studies indicate that this is not the norm. Experimental tests of elicited production, repetition and comprehension of passive and active sentences applied in ten adolescents with Down syndrome, speakers of Portuguese, showed that out of the ten adolescents, one, Fa, is able to produce, imitate and comprehend passive sentences. It is hypothesised that, when there is no comprehension, or when the comprehension of reversible passives is unstable, the passive is understood as active, because the first noun of the passive sentence is interpreted as agent/causer of the action/non-action. This hypothesis is strong inasmuch as it assumes that both active and passive have very similar initial derivations. There is not, however, strong evidence that the nine adolescents interpret the passive as active. But if it is assumed that their chance results in comprehension of the passive is due to the fact that they are beginning to understand it, then it could be said that, for around 50% of the time, the adolescents with Down syndrome interpret the passive as active. Fa, on the other hand, does not interpret the passive as active, as she produces, imitates and comprehends the passive structure very well.
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    Down Syndrome Research and Practice. 2006. doi:10.3104/case-studies.319
  • Provision of coordinated care for individuals with Down syndrome: The Calgary perspective
    Donna Heerensperger
    In Calgary, Alberta, Canada, cooperation between families, agencies and health care providers has resulted in services that improve the health and quality of life for individuals with Down syndrome. One of these is the multidisciplinary Down syndrome team at the Alberta Children's Hospital, which provides assessment, treatment and support based on established the Down Syndrome Medical Guidelines (Cohen, 1999) to children with Down syndrome. Originally established to provide services to children from birth to six years of age, the clinic now sees children until the age of 18 years. This change in clinic mandate has enriched and changed the practice of the team. They have an increased awareness of how issues develop over time and impact the child's functioning and quality of life and have developed approaches to prevent and minimise these challenges. This article describes the Down syndrome team's evolution and the benefits of a multidisciplinary/coordinated approach for individuals with Down syndrome.
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    Down Syndrome Research and Practice. 2006. doi:10.3104/case-studies.300
  • A 'positive' approach to supporting a pupil with Down syndrome during 'dedicated numeracy time'?
    Ruth Germain
    This exploratory study has been designed to consider how mainstream staff can most effectively support pupils with Down syndrome in numeracy. The study is partly based on the work of Wishart (1996, 2001), looking at motivation and learning styles in young children with Down syndrome. An individual case study was carried out during 'dedicated numeracy time', a central part of the National Numeracy Strategy framework, in a reception class. Background information was collected from the educational records of the pupil, initial unstructured observations and semi-structured interviews with the class teacher and Learning Support Assistant. Structured observations were carried out across individual, group and whole class settings. The findings, from this single case study, revealed that, contrary to the expectations of staff, the pupil demonstrated less inappropriate behaviour in the whole class setting, in comparison to individual and group settings. However, the pupil was more successful in his independent attempts at tasks in individual and group settings, in comparison with the whole class setting. The report concludes that it is important to provide pupils with appropriate support to avoid failure, particularly during the early stages of learning. It also recommends that the pupil is able to work within the mainstream classroom and participate, with the appropriate support, in the whole class 'mental maths' session and plenary on a more regular basis. This is a small-scale study and the findings tentative. It does however indicate the need for further research in this area.
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    Down Syndrome Research and Practice. 2002. doi:10.3104/case-studies.130
  • Reading with Abby: A case study of individual tutoring with a young adult with Down syndrome
    Kelly Gallaher, Christina van Kraayenoord, Anne Jobling and Karen Moni
    This case study examined the impact of a series of tutoring sessions on the literacy development of a young woman with Down syndrome. The sessions were conducted within the LATCH-ON (Literacy and Technology-Hands On) program at the Schonell Special Education Centre at the University of Queensland and made use of technology resources in addition to other methods of instruction. The first author assumed the role of participant observer through the reported sessions and acted as an individual tutor to the young woman. Data obtained from an initial screening indicated that the young woman had only limited word decoding strategies when reading text, and consequently, had significant problems with comprehension. Instruction during individual tutoring sessions focused primarily on phonics instruction, as well as other decoding strategies, such as sight word recognition. Specific instructional strategies employed by the first author are discussed. Within the context of the LATCH-ON program, the impact of individual instruction on the development of literacy is examined and discussed.
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    Down Syndrome Research and Practice. 2002. doi:10.3104/case-studies.131
  • Françoise, a fifteen year follow up
    Jean Rondal, Elbouz, Ylieff and Docquier
    A fifteen year follow up of the linguistic and cognitive profile of a woman, named Françoise, with standard trisomy 21. She had been studied in considerable detail between 1987 and 1991 by Rondal (1995) and found to have exceptionally good language abilities in advance of regular cognitive abilities for a person with Down syndrome. Françoise's psychological functioning has been deteriorating relatively rapidly over the last two years. A severe deterioration of her previously excellent receptive language abilities is documented in the present study. Productively, her online word finding is becoming problematic, mean length of utterance has halved compared with 15 years ago, and production of compound sentences is reduced. However, basic phonological and morphosyntactic skills are preserved. Françoise's changing profile during the latter years seems to mirror that documented in the first stages of Alzheimer disease in ageing adults in the general population.
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    Down Syndrome Research and Practice. 2002. doi:10.3104/case-studies.135
  • Quality of life - Ageing and Down syndrome
    Roy Brown, Janet Taylor and Brian Matthews
    This article, based on pilot qualitative research, examines the quality of life of people with Down syndrome who are in the upper age bracket (45-70 years). Through use of a questionnaire, the current life experience and interests of a small group of individuals are noted, along with some of their perceptions concerning their past and present, including their views on the ageing process. Recommendations are made particularly in relation to the need to recognise the principles of variability, perception and choice, while providing support to encourage dignified and active lifestyles.
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    Down Syndrome Research and Practice. 2001. doi:10.3104/case-studies.101
  • The Social Development of Children with Severe Learning Difficulties: A Case Study of an Inclusive Education Initiative Between Two Primary Schools in Oxfordshire, UK
    Denise Dew-Hughes and Sonia Blandford
    This case study of primary age children in two linked Oxfordshire schools investigated the contribution of staff attitudes and practices to inequalities in education, and contrasted the socialisation of children with similar learning difficulties in different educational placements. Participant observation of a group of children and carers in a special school suggested areas of more rigorous inquiry. Structured observations compared this group with a matched sample of children with similar learning difficulties in a mainstream setting. Staff on both sites were invited to comment on findings arising from analysed data in order to identify attitudes and policies which might account for the observed differences in practice. The study was engendered by experience of ifferences arising from educational placement. The theoretical stance arose through reviewing previous work, predominantly the debate on inclusive ducation, and the wider issues of human rights and equal opportunities embedded in the social development of people with disabilities. The theoretical framework underpinning this study is established in some depth. The project was designed to investigate issues of the wider social perspective, by conducting a micro-study of one model of educational inclusion whose outcomes have direct relevance to those issues.
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    Down Syndrome Research and Practice. 1999. doi:10.3104/case-studies.92
  • The social development of children in special schools
    Denise Dew-Hughes
    A summary report of a research project investigating the social development of children with severe learning difficulties in special schools as compared with those in mainstream schools.
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    Down Syndrome News and Update. 1998. doi:10.3104/case-studies.140
  • Choose a story: Does Down syndrome make a difference?
    Christine Hainsworth
    This paper describes a pilot study of mother and child interaction during a book reading session. It is a detailed qualitative and quantitative analysis based on videotaping a story-time session. Comparison is made between the interactions of a mother with her pre-school child with Down syndrome and of a mother with her non-disabled pre-schoolers. While many similarities are documented some possibly significant differences are also explored.
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    Down Syndrome Research and Practice. 1998. doi:10.3104/case-studies.80
  • Teenagers with Down syndrome study Algebra in High School
    Elisabetta Monari Martinez
    This paper deals with the adaptation of an algebra curriculum for two students with Down syndrome who were included in High School. Since the kindergarten, this boy and girl have been fully included in general education classes. This paper examines the rationale for this choice on an algebra program. The adaptation of this program was easy because all that was required was to shorten it and do some additional steps in teaching (a little bit more than in a remedial course). Also, visual prompts were provided to the students. The boy needed a calculator all the time. Both of the students learned to calculate algebraic expressions with parenthesis, with positive and negative numbers and even with powers. The boy was able to do algebraic sum of monomials. The girl performed expressions with fractions. They took written and oral tests at the same time as their classmates, but with different exercises or questions. The girl was able to do some mental arithmetic. Often she was more consistent and careful than her typical classmates. The boy had problems with the integration and he did not attend the school full time. The inclusion, even when it was not perfect, provided the motivation to teach and to learn. In both cases, the crucial point was the daily collaboration of the mathematics teacher with the special educator. Both of the students enjoyed the mathematics program, as many typical students do. Mathematics gave them the fulfilling emotion of succeeding!
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    Down Syndrome Research and Practice. 1998. doi:10.3104/case-studies.73
  • Tell me about Katie - Attitudes of mainstream 7-8 year olds to a peer with Down syndrome
    Barry Carpenter
    Using a case study of integration into a mainstream primary school for his daughter with Down syndrome, the author seeks to explore the attitudinal development of her mainstream peers after a four-year period. As such, it is a first step, tentative piece of research, fraught with potential pitfalls. As Bines (1995) points out as a 'researcher [I am] inevitably part of the phenomenon being studied'. Through scripts written by children aged 7-8 years about Katie, their peer with Down syndrome, an analysis of the children's perceptions of and attitudes towards Katie was undertaken. The findings reveal significant insights on the part of the children, and an appreciation of the child for her abilities, not her disability. The outcomes of the research are interpreted in terms of family empowerment within a community, following a positive period of interaction for the child with Down syndrome in a neighbourhood mainstream school setting. A new paradigm, worthy of further exploration, is that of 'parent as researcher'.
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    Down Syndrome Research and Practice. 1995. doi:10.3104/case-studies.50
  • Learning to read at an early age: Case study of a Dutch boy
    Erik de Graaf
    If children with Down syndrome have overcome the difficulties with their health in their first years of life, speech development is their main problem area. Research from English speaking countries has proved, that with them one can start with teaching reading at the age of three or four, even before they start to speak, although this sounds unlikely. The advantages are that the very first bit of reading proficiency might be used to increase speech production, to train syntax and to improve articulation. The primary objective here clearly is reading to speak. A case study is presented of a boy with Down syndrome between the ages of 3 and 8. We gratefully acknowledge the use of a video camera and recorder which was donated to us in 1985 by the Philips Company of Eindhoven. What follows can hardly be more of a summary of the experiences we have had in the last five years.
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    Down Syndrome Research and Practice. 1993. doi:10.3104/case-studies.18

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