Syftet med fördjupningsarbetet har varit att via en pilotstudie öka kunskapen om ungdomar med funktionsnedsättning i Umeå, med avseende på psykisk hälsa, och på hur de upplever sin vardag i skolan, med kamrater och i familjen. Psykisk hälsa undersöktes genom att ungdomar med funktionsnedsättning som går i specialklasser (grundsärskolans högstadium, högstadium för ungdomar med Asperger, högstadium för ungdomar med rörelsenedsättningar), fick besvara en enkät under skoltid. För att kunna relatera till den undersökning som Statens Folkhälsoinstitut genomförde hos ungdomar i Sverige 2009 har samma enkät använts.   Resultatet visar att de flesta ungdomar har angett att de mår bra, trivs i skolan, har bra kontakt med sina lärare och med sina föräldrar. Majoriteten mår lika bra som de flesta ungdomar i landet och t.om bättre än de ungdomar i Folkhälsoinstitutets undersökning, som angett att de hade någon funktionsnedsättning.   Inom några områden visades dock lägre resultat. Ungdomarna i vår undersökning uppgav att deras svårigheter påverkade deras vardag i familjen och vid fritidsaktiviteter. De umgås mer sällan med kamrater, motionerar mindre och har färre fritidsaktiviteter. Ungdomar med Asperger skiljer ut sig mest i vår undersökning, de är mindre nöjda med livet och med sig själva, känner sig mer ensamma,  umgås mer sällan med kamrater och har mindre kul, jämfört med ungdomar i grundsärskolan.   Det finns områden där stödet ifrån Barn- och ungdomshabiliteringen kan förbättras, som att utveckla metoder för socialt samspel och stärka ungdomarnas identitet och i samarbete med andra aktörer öka delaktigheten till en mer aktiv fritid.

Darbe atlikta teorinė sutrikusio intelekto vaikų vystymosi ypatumų, buitinių įgūdžių apibrėžties analizė bei tėvų ir ugdymo įstaigos pedagogų vykdomo buitinių įgūdžių formavimo kryptingumo siekiant vaikų, turinčių vidutinį intelekto sutrikimą, autonomiškumo analizė. Iškelta hipotezė, kad vaikų, turinčių vidutinį intelekto sutrikimą, buitinių įgūdžių formavimas vyksta kryptingai. Taikant anketinės apklausos metodą, buvo atliktas tyrimas, kurio tikslas - įvertinti buitinių įgūdžių formavimo kryptingumą, siekiant vaikų, turinčių vidutinį intelekto sutrikimą, autonomiškumo. Atlikta anketinės apklausos duomenų analizė. Tyrime dalyvavo 118 Vilniaus miesto specialiųjų ugdymo įstaigų pedagogų ir 100 tėvų, auginančių vaikus, turinčius vidutinį intelekto sutrikimą. Empirinėje dalyje aptariamos asmens, turinčio vidutinį intelekto sutrikimą, galimybės atlikti buitinius darbus; nagrinėjamas sutrikusio intelekto vaikų buitinių įgūdžių formavimo kryptingumas namuose ir ugdymo įstaigoje. Svarbiausios empirinio tyrimo išvados: 1. Hipotezė, kad vaikų, turinčių vidutinį intelekto sutrikimą, buitinių įgūdžių formavimas vyksta kryptingai, pasitvirtino iš dalies. 2. Daugumos respondentų nuomone, vaikų, turinčių vidutinį intelekto sutrikimą galimybės atlikti buitinius darbus yra ribotos, minimalios. Tik 36 proc. tėvų ir 25 proc. pedagogų nurodė normalias galimybes, 10 proc. pedagogų pabrėžė, kad galimybės atlikti buitiniuis darbus priklauso nuo individualių vaiko sugebėjimų. 3. ... [toliau žr. visą tekstą] / There was made theoretical analysis about development peculiarities of children with mental retardation, daily skills were defined and also there was made an analysis about singleness of daily skills formation with purpose to make children with moderate mental retardation self–sufficient, which parents and educators implement. It was hypothesized that formation of daily skills for children with moderate mental retardation is going purposefully. By employing method of questionnaires the research was made which purpose is to evaluate singleness of daily skills formation with purpose to make children with moderate mental retardation self–sufficient. The analysis of questionnaires data was made. 118 Vilnius city special educational institutions educators and 100 parents who have children with moderate mental retardation participated in the research. In the empirical part the possibilities of a person with moderate mental retardation to make daily activities are discussed; the singleness of daily skills formation of children with mental retardation at home and at the educational institution is examined. The most important conclusions of empirical research: 1. Hypothesis that formation of daily skills for children with moderate mental retardation is going purposefully was proved partially. 2. Many respondents take the view that possibilities for children with moderate mental retardation to make daily activities are limited, minimal. Only 36 percent of parents and 25 percent... [to full text]

Phenylketonuria (PKU) is one of the most common amino acids metabolisms disorders. Even though such disorders are rather scarce, it was the first case of all metabolism disorders. Phenylketonuria was first described by A. Fioling in 1934. PKU is an autosomic recessive hereditary metabolism disease that is followed by disorders in amino acids metabolism, which disorders the development of the nervous system. The earlier the treatment begins, the better prognosis of the disease is. If the baby is not being treated, his health gets worse already during the first 6 months of his life. During the first months he often does not eat well, sucks wanly, vomits. After some time after birth there appear the jumps. The baby is lacking vitality, sleepy or too much irritable. In many cases the muscular tonicity might be varied (either higher or lower). A specific smell or color of the body or urine of babies who have phenylketonuria may be common. Over time, growth, physical and mental development of the baby is out of order. Children, who have phenylketonuria, have emotional and action problems Moreover, just after birth phenylketonuria causes serious and incurable mental disorders The intelligence quotient of the majority of patients is lower than 60 points. There is a general babies’ check in order to diagnose phenylketonuria on time. The researches are being held in the Medical Genetics Centre of Vilnius Santariskes Clinic since 1975. The average of babies who have phenylketonuria is... [to full text]

No description available.

This study examined the relative risk of perinatal complications in common childhood disorders. Specifically, the ability of perinatal complications to predict membership into children's disorders was studied. The sample consisted of 634 normal children and children with mental retardation, learning disabilities, and emotional handicaps, whose mothers completed the Maternal Perinatal Scale (WS). Seven MPS items significantly contributed to the prediction of the mentally retarded, learning disabled, emotionally handicapped, and regular education groups. The two significant discriminant functions correctly classified about 46% of the students, with the greatest misclassification occuring for those with emotional handicaps. When the separate disorders were collapsed to form a single group, eleven MPS items significantly contributed to the prediction of the special education and regular education groups. The linear composite from discriminant function analysis correctly classified about 74% of the students. Some 89% of the special education students were correctly classified. When MPS factors were used as predictors, 90% of the special education students were correctly classified. Seven MPS factors comprised the discriminant function. Relative risk ratios were computed for each perinatal item. Significant relative risk ratios included maternal weight over 151 pounds, saddle block anesthesia, no anesthesia, stress during pregnancy, prenatal care, medically induced labor, unplanned pregnancy, medication use during pregnancy, hypoxia, and cigarette use during pregnancy. An overall relative risk of 6.35 was computed based on the linear composite of perinatal variables defined by the discriminant function, suggesting that a suggesting that a synergism of perinatal complications makes a child over 6 times more likely to be placed in special education. A second overall relative risk of 3.83 was derived from the linear composite of MPS factor scores. This indicated that children with a perinatal history marked by this particular combination of perinatal complications were nearly 4 times as likely to require special educational services. Results were discussed in terms of comorbidity among special education categories. The potential use of the MPS as a screener for early intervention was also discussed. / Department of Educational Psychology

The mechanisms that govern the repression of 5-HT1A receptor gene expression mediated by a novel mental retardation gene, Freud-1, were examined in HEK293 and SKNSH cells. This study provides a possible mechanism of 5-HT1A receptor gene regulation by Freud-1, which, to mediate its action, recruits Swi/Snf and Sin3A/histone deacetylase (HDAC) complexes in non-neuronal HEK293 cells and Swi/Snf only in neuronal, 5-HT1A receptor-expressing SKNSH cells. Thus, Freud-1 has a dual mechanism of repression depending on cell type: HDAC dependent in HEK293 cells and HDAC independent in SKNSH cells. In addition, I present evidence that Freud-1 is not sumoylated at its consensus sumoylation sites and I present the lipid binding properties of Freud-1 and Freud-1 mutants.

Copies of author's previously published works inserted. / Bibliography: leaves 321-370. / xv, 370, [21] leaves : ill. (chiefly col.) ; 30 cm. / Title page, contents and abstract only. The complete thesis in print form is available from the University Library. / The aim of the project presented in this thesis is to isolate microsatellite markers and to construct a high resolution genetic map of the human X chromosome using these and pre-existing microsatellite markers. AC dinucleotide repeat markers are isolated from a bacteriophage library for application to the genetic localisations of X-linked disease genes, particularly those responsible for non-specific mental retardation (MRX). The genetic map is used to refine the location of the disease gene segregating in five families affected with X-linked mental retardation. / Thesis (Ph.D.)--University of Adelaide, Dept. of Genetics, 1997

Typescript (Photocopy) / Includes published papers co-authored by the author at the end of volume 2 / Bibliography: leaves 195-237 of vol. 1 / 2 v. : ill ; 30 cm. / Title page, contents and abstract only. The complete thesis in print form is available from the University Library. / Thesis (Ph.D.)--Dept. of Paediatrics, Faculty of Medicine, University of Adelaide, 1991

Thesis (M. Ed.)--Kutztown University, 1989. / Source: Masters Abstracts International, Volume: 45-06, page: 2749. Abstract precedes title page. Typescript. Includes bibliographical references.

Thesis (Ph. D. in Biological Science)--Vanderbilt University, Dec. 2007. / Title from title screen. Includes bibliographical references.