<p>Denna litteraturöversikt visar att det finns en hel del litteratur och forskning inom området föräldrar med förståndshandikapp. Den forskning som gjorts är till största delen internationell, men de resultat denna studie kommit fram till bör kunna vara användbara under svenska förhållanden. Syftet var att belysa ett antal bestämda faktorer som kan påverka insatsers effektivitet, bland annat attityder, sociala nätverk och handikappmedvetandet. Resultatet visar att förmågan hos många av föräldrarna kan förbättras med hjälp av träning och utbildning. Studien har sin utgångspunkt i systemteori och visar att insatsers effektivitet påverkas av olika system runt den förståndshandikappade föräldern, där även föräldern själv ingår som ett system.</p>

The loss of expression of the fragile X mental retardation protein (FMRP) leads to fragile X syndrome. Fragile X syndrome is the most prevalent inheritable mental retardation. FMRP has two types of RNA binding domains, two K-homology domains and an arginine-glycine-glycine box domain, and is proposed to act as a translation regulator of specific mRNA. Despite extensive research, the mechanism by which FMRP loss leads to the fragile X syndrome remains unclear. Thus, there is high interest to produce sufficient quantities of pure recombinant FMRP for biochemical and biophysical studies of the protein function. However, the recombinant bacterial expression of FMRP has had limited success, and subsequent recombinant eukaryotic and in vitro systems may produce FMRP which is posttranslationally modified, as phosphorylation and arginine methylation have been shown to occur on FMRP. In this study, we have successfully isolated the conditions for recombinant expression, purification and dialysis of full-length FMRP using Escherichia coli, with a high yield. The expression of FMRP using E. coli renders the protein devoid of the posttranslational modifications of phosphorylation and arginine methylation, allowing for the further study of the direct effects of these modifications individually and simultaneously. Additionally, FMRP has been shown to undergo alternative splicing, with one of the splicing sites in close proximity to the FMRP domain shown to be involved in binding G quadruplex mRNA with high affinity and specificity. We have analyzed how naturally occurring truncations in the FMRP sequence affect its RNA binding affinity, by applying the expression, purification and dialysis process to the second and third longest FMRP isoforms, followed by subsequent analysis of the G quadruplex mRNA binding properties by fluorescence spectroscopy. Our results show that as FMRP gets truncated by alternative splicing, its mRNA binding affinity increases. To test a model we proposed for FMRP translation regulation activity, we developed a luciferase reporter gene construct that contains the G quadruplex structure in the mRNA 5���-untranslated region. Using luminescence spectroscopy to analyze luciferase translation, we showed that low levels of full-length FMRP reduces luciferase translation, and as the concentration of full-length FMRP increases the luciferase translation increases. / Bayer School of Natural and Environmental Sciences / Chemistry and Biochemistry; / PhD; / Dissertation;

This retrospective study investigated the incidence, characteristics, and risk factors of bone fracture among a group of 518 adults with severe mental retardation between 25 and 75 years old. Data were collected from a large state developmental center in the Western United States between April 1, 1991 and March 31, 1996. Ninety-six of 271 males and 133 of 247 females experienced 291 fractures during the study period. Relative risk of fracture for all males was .658 compared to 1.540 for females. Menopausal status did not significantly influence the risk of fractures among females. Risk of fracture by self-feeding ability ranged from 1.675 for individuals who were tube fed to .343 for those requiring no assistance during meals. As a group, individuals with a body mass index (BMI) less than 20 were at the greatest risk of fracture (RR=2.416). Males with BMI values between 20-25 (RR=.560) and greater than 25 (RR=.373) had a decreased risk of fracture. Ambulatory males and females had a significantly decreased risk of fracture (RR=.356 and .559 respectively). Rib, femur, vertebrae, and radial fractures accounted for nearly 60% of all fractures. The etiology of the 41% of fractures was of unknown origin. Transfers by developmental training personnel (10.3%), falls to the ground (15.8%), and accidents (32.6%) were also frequently related to fracture cause. Logistic regression analysis revealed the occurrence of any fracture was significantly associated with ambulation, calcium intake, body weight, self-feeding ability, and body mass index. / Graduation date: 1997

Denna litteraturöversikt visar att det finns en hel del litteratur och forskning inom området föräldrar med förståndshandikapp. Den forskning som gjorts är till största delen internationell, men de resultat denna studie kommit fram till bör kunna vara användbara under svenska förhållanden. Syftet var att belysa ett antal bestämda faktorer som kan påverka insatsers effektivitet, bland annat attityder, sociala nätverk och handikappmedvetandet. Resultatet visar att förmågan hos många av föräldrarna kan förbättras med hjälp av träning och utbildning. Studien har sin utgångspunkt i systemteori och visar att insatsers effektivitet påverkas av olika system runt den förståndshandikappade föräldern, där även föräldern själv ingår som ett system.

Changes in health care and increasing provision of community services have resulted in an increased number of community dwelling older adults with intellectual disabilities (ID), leading to questions about future planning for service delivery. Although selected aspects of functioning have been explored in various research studies, less longitudinal information pertaining to broad aspects of health is available to planners. This longitudinal project was designed over 10 years ago with the primary purpose of exploring individual and systemic issues in the health needs of this challenging population, leading to improved service planning.<p>Cross-sectional and longitudinal health data were collected from 360 adults with intellectual disabilities (ID) recruited from social services agencies from across the province of Saskatchewan. Data collection included caregiver information, chart information and directly administered tests of selected aspects of cognitive functioning. Formal data-collection occurred every second year for a maximum of four test times, and was supplemented by follow-up phone calls.<p>Analysis of study results showed that young, rather than older people without DS had a greater severity of health needs related to their underlying conditions, and more problematic behavioral and mental health issues. The reason for this was likely the increased survival of multiply handicapped young people, and the increasing trend for these people to be maintained in the community rather than in large institutions. This population was more likely to receive psychotropic medications, both for underlying problems such as seizure disorders, but also for difficult behaviors such as aggression.<p>On the other hand, adults with DS had relatively fewer problems in their younger adult years, but had increasing problems as they aged. Most aspects of functioning were decreased in the older compared to the younger cohorts, which was consistent with the longitudinal, individual level data showing yearly declines in most measured skills. These declines were greater than those found in adults without DS. Although yearly declines were noted in most age cohorts, the largest declines were noted in the oldest age groups, 50 years and over, suggesting that, while aging related decline was present from an early age, declines severe enough to suggest a dementing process probably do not start until after middle age. Declines in visual memory appear to precede those in praxis.<p>Mortality was increased with age, lower baseline functioning, DS, male gender, and baseline depressive symptoms.<p>The use of aging programs did not change much during the course of the study, but interesting differences in service use between people with and without DS were noted. Adults with DS were more likely than those without DS to participate in generic aging services, which was thought to be due to people with DS presenting with more typical, Alzheimer type behaviors, rather than severe behaviors such as aggression.

Changes in health care and increasing provision of community services have resulted in an increased number of community dwelling older adults with intellectual disabilities (ID), leading to questions about future planning for service delivery. Although selected aspects of functioning have been explored in various research studies, less longitudinal information pertaining to broad aspects of health is available to planners. This longitudinal project was designed over 10 years ago with the primary purpose of exploring individual and systemic issues in the health needs of this challenging population, leading to improved service planning.<p>Cross-sectional and longitudinal health data were collected from 360 adults with intellectual disabilities (ID) recruited from social services agencies from across the province of Saskatchewan. Data collection included caregiver information, chart information and directly administered tests of selected aspects of cognitive functioning. Formal data-collection occurred every second year for a maximum of four test times, and was supplemented by follow-up phone calls.<p>Analysis of study results showed that young, rather than older people without DS had a greater severity of health needs related to their underlying conditions, and more problematic behavioral and mental health issues. The reason for this was likely the increased survival of multiply handicapped young people, and the increasing trend for these people to be maintained in the community rather than in large institutions. This population was more likely to receive psychotropic medications, both for underlying problems such as seizure disorders, but also for difficult behaviors such as aggression.<p>On the other hand, adults with DS had relatively fewer problems in their younger adult years, but had increasing problems as they aged. Most aspects of functioning were decreased in the older compared to the younger cohorts, which was consistent with the longitudinal, individual level data showing yearly declines in most measured skills. These declines were greater than those found in adults without DS. Although yearly declines were noted in most age cohorts, the largest declines were noted in the oldest age groups, 50 years and over, suggesting that, while aging related decline was present from an early age, declines severe enough to suggest a dementing process probably do not start until after middle age. Declines in visual memory appear to precede those in praxis.<p>Mortality was increased with age, lower baseline functioning, DS, male gender, and baseline depressive symptoms.<p>The use of aging programs did not change much during the course of the study, but interesting differences in service use between people with and without DS were noted. Adults with DS were more likely than those without DS to participate in generic aging services, which was thought to be due to people with DS presenting with more typical, Alzheimer type behaviors, rather than severe behaviors such as aggression.

Telomeres are located at the ends of all eukaryotic chromosomes and provide the stability of chromosomes. They consist of simple tandem hexametric repeats and play an important part in cell longevity. In human lymphocytes, telomeres shorten progressively with age. Mental retardation (MR) is a disorder with intelligence quotient below average (IQ < 70) and impairment in adaptive skills. IQ by Weschsler Adult Intelligence Scales revised (WAIS-R) appears to peak in the of 30-34 and thereafter decline gradually. Life expectancy is defined as the number of years remaining to be lived. The overall increase in life expectancy indicates an improvement in longevity. The life expectancy of MR patients is shorter than that of the general population. The purpose of this study is to predict the relationship between telomere length and IQ in normal control as well as to analyze the differences among the average telomere length for the control and subgroups of MR cases. Fifty-nine patients who met the fourth edition of Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) criteria for mental retardation were included in this study. According to the degree of intellectual impairment, MR patients were divided into 4 types: mild, moderate, severe, and profound. Fifty-two female nursing students aged 19-21 were recruited as normal controls. DNA was isolated from their lymphocytes. Telomere length was analyzed by Southern blot hybridization. The length was calculated by the Photo CaptMw Version 99.03 software. Correlation between the telomere length and IQ in normal control was performed by the Pearson product-moment correlation. One-way ANOVA was used to test if any differences existed among the normal, mild, moderate, severe, and profound MR. Analyses displayed that there were no correlations between telomere length and IQ including PIQ(r=-0.001; p=0.922), VIQ(r=-0.033; p=0.817), TIQ(r=-0.026, p=0.857), and no difference existed among the normal and subgroups of MR cases. Results obtained from this study indicated that life expectancy of MR patients may approximate to that of the general population if live in the well environment.

Thesis (M.P.A.)--Kutztown University of Pennsylvania, 2002. / Source: Masters Abstracts International, Volume: 45-06, page: 2949. Typescript. Abstract precedes thesis as 2 preliminary leaves. Includes bibliographical references (leaves 68-71).

Thesis (Ph. D.)--University of Texas at Austin, 2000. / Vita. Includes bibliographical references (leaves 97-136). Available also in a digital version from Dissertation Abstracts.

Syftet med examensarbetet är att undersöka hur några speciallärare och specialpedagoger ser på arbete med musik, språk och kommunikation för elever på tidig utvecklingsnivå. Fokuseringen är hur de ser på att använda musik för att nå språkliga och kommunikativa mål för elever i gymnasiesärskolan. Som metod i studien har kvalitativa intervjuer använts då den undersöker upplevelser. Datainsamlingsmaterialet har analyserats enligt fenomenologisk forskningsmetod. Sammanlagt har sex speciallärare och specialpedagoger intervjuats. Resultatet visar att speciallärarna och specialpedagogerna ser flera gemensamma nämnare i musik som medel att nå kommunikativa mål. Musik ses som ett mångsidigt och flexibelt medel som utvidgar till språkliga och kommunikativa sammanhang. Det beskrivs i motivationshöjande aktiviteter som genererar sociala möten. Musiken sociala forum ses som särskilt betydelsefull då det annars arbetas mycket på individuell nivå. Möjligheter beskrivs i att variera metoder där hela kroppen används utifrån en här- och nusituation. Musiksammanhang beskrivs också i att locka eleverna till något mer utmanande. Även den ordlösa kommunikationen som finns i musiken tas upp, en slags kommunikation men utan ord. Det ordlösa som finns i musiken ger utrymme för återhämtning i en kravlös gemenskap för dem som annars har svårt att utrycka sig i talat språk. Där blir eleverna deltagare i en passiv kommunikation genom att följa med i texten till en känd sång eller genom att bara lyssna på musikens uttryck.