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280 Uppsatser om 22q11-deletion syndrome - Sida 1 av 19

Talstörningar hos vuxna med 22q11-deletionssyndrom ?

Speech disorders are common in children with 22q11-deletion syndrome, but there is limited knowledge about speech in adults with this syndrome. The aim of this study is to describe speech and voice in adultswith 22q11-deletion syndrome, and compare the results with a control group.Ten adults between 19-49 years participated in each group. The study wasbased on the Swedish dysarthria assessment, Dysartribedömningen. Thetested abilities were respiration, phonation, oral motor function, velopharyngeal function, articulation, prosody and intelligibility. Communicative participation was examined as well.

Perceptuell bedömning av tal och röst hos vuxna med 22q11-deletionssyndrom

Speech anomalies have been described as characteristic symptoms forthe 22q11 deletion syndrome. However, research on speech and voice in adultswith the syndrome is still scarce. Previous research has indicated that speech andvoice anomalies seen in children with the syndrome might have neurologicalcauses. The aim of this study is to investigate speech and voice in a group ofadults diagnosed with the 22q11 deletion syndrome, with extra focus onanomalies with possible neurological cause. The researched group consisted of24 adults between the ages 19 to 38 with a verified 22q11-deletion, 16 womenand 8 men.

Barn med 22q11.2 deletionssyndromet ? hur hör de?

The 22q11.2 deletion syndrome is a common genetic disorder that affects for example the heart, palate, immune system and hearing and therefore affects a child?s development. The purpose of this study was to investigate the proportion of children (0-18 years) with 22q11.2 deletion syndrome who have a hearing loss. A retrospective study of 103 children diagnosed with 22q11.2 deletion syndrome was conducted by medical records. Of the 103 children, 51 were boys and 52 were girls.

"Aspergers syndrom är jag" En kvalitativ studie om hur det kan vara att leva med Aspergers syndrom

Asperger´s syndrome is a state with certain difficulties in social relations, communication and perception. People with Asperger´s syndrome often have a special interest for a certain topic. The main purpose of this study was to describe how grown people with Asperger´s syndrome make sense of living with Asperger´s syndrome. The inquiry was based on semi-structured interviews with eight persons with Asperger´s syndrome. We reached those subjects trough interest organisations for people with Asperger´s syndrome.

Epidemiologisk fall-kontroll studie av reumatoid artrit : betydelsen av genotyp och omgivningsfaktorer

Syftet med studien var att studera effekterna av några miljöfaktorer och genetiskt predisponerande faktorer för reumatoid artrit (RA). RA är en inflammatorisk sjukdom där immunsystemet bryter ner kroppsegen vävnad. En signifikant ökad risk för RA påvisades vid exponering för spannmålsdamm och rökning. Generna som studerades var GSTM1, GSTT1 och Fc-gamma-RII. Generna i sig var ingen predisponerande faktor för RA, men rökning visade sig vara en signifikant högre riskfaktor för de som hade en deletion av GSTM1 eller Fc-gamma-RII genen samt för de som inte hade deletion av GSTT1 genen.

Kirurgi vid Superior Canal Dehiscence Syndrome ? En beskrivande litteraturstudie om audiologiska och vestibulära resultat och komplikationer

Superior Canal Dehiscence Syndrome (SCDS) is a newly described syndrome with symptoms including sound- and pressure induced vertigo, conductive hyperacusis and autophony. SCDS is caused by absence of bone overlying the superior semicircular canal and can be surgically treated. As the syndrome and surgical technique is new, it is of importance to study possible postoperative outcomes..

"Man kan säga att båda sänder signaler men på olika frekvenser" : en kvalitativ studie om partners upplevelse av att vara i ett parförhållande där den andra partnern har Aspergers syndrom

Being in a relationship where the partner has Asperger's syndrome makes you indirectly affected by their disability as it affects not only the disabled but also the partner. The partner may be faced with a lack of understanding from their partner with Asperger's syndrome and from its surroundings, where the syndrome including causes, limits ability in social interaction and communication.The study is a qualitative study based on six asynchronous interviews conducted via email with partners who are in a relationship with a partner who has Asperger's syndrome.The aim of the study was to increase understanding and to highlight partners experience to be in a relationship where the other partner has Asperger's syndrome and how outside support from the environment is perceived. Results of the study showed that all six partners felt that everyday life was structured around the partner with Asperger's syndrome. There was a perceived feeling of loneliness because of the partner with Asperger's syndrome not caring about the partner and of being the one taking the greatest responsibility in everyday life for it to work. There was a feeling of stress, anxiety, lost confidence and frustration but there was also a strong desire and commitment to their partner with Asperger's syndrome.

Fysisk aktivitet hos personer med metabolt syndrom

A quart of the of the adult population worldwide havemetabolic syndrome. A sedentary lifestyle, low physicalactivity, combined with wrong eating habits, stress,smoking and psychosocial factors, are the main causes ofdevelopment of the metabolic syndrome. The purpose ofthe literature review was to illuminate the physicalactivity in persons who have the metabolic syndrome, andwhat sort of advice a nurse use in the promotion ofphysical activity. The study was conducted as a literaturereview, including 15 scientific quantitative articles. In tenarticles, the focus was on physical activity at themetabolic syndrome, and five articles focused on variousforms of counselling for physical activity.

Knutby och stockholmssyndromet. : En religionspsykologisk undersökning avstockholmssyndromets koppling till våld i religiösa rörelser.

In January 2004 two members of the Pentecostal community Knutby Filadelfia in Uppsalamunicipality, Sweden, were shot by their fellow member Sara Svensson. With a qualitative hermeneutic case study as the principal method this essay takes on the task of not only investigating if and how Stockholm Syndrome can be used as a model for interpreting and understanding the violent incident in Knutby Filadelfia, but also to see if the unique characteristic of the Knutby incident can tell us something about Stockholm Syndrome as a model for understanding violence in religious movements. The material shows Stockholm Syndrome as having been present in Knutby because of among other things, a mileu, leadership and theology that supported the normalization of abuse and the enabling and maintaining of self punishment in the community. While Stockholm Syndrome still is a controversial theory this study shows that it can be used as a powerful tool in the understanding of violence in religious contexts..

Personer med Asperger och svårigheteri samhället ? en fråga om kommunikation? : - en jämförande studie mellan forskning och egnaupplevelser hos personer med Asperger

This study is about people with Asperger syndrome and their difficulties in all kinds of communication in society. Through the language we code objects and events to remember and observe the environment. The aim is to compare research with the actual experiences of people with Asperger syndrome, in relation to their difficulties in society / communication. Three questions have been given extra attention. The first is what similarities and differences there are between people with Asperger syndrome.

Elever med Aspergers syndrom : Hur kan pedagoger arbeta för att underlätta för dessa elever?

The purpose with my examination is to make a contribution to how, as a pedagogue, you can work to make it easier for pupils with Aspergers syndrome that are integrated in an ?average? class. I will concentrate my work to these questions: how pedagogues can work to make it easier for pupils with Asperger syndrome that are integrated in an ?average? class. If it affects the other pupils in the class when pupils with Asperger syndrome is integrated in the class and also if it affects the pedagogues work having these children integrated in their ?average? class.I have decided to study research and other literature and also to do two interviews to find out how pedagogues can make it easier for children with the diagnosis Asperger syndrome.

TAKK - Tecken som Alternativ och Kompletterande Kommunikation : En kvalitativ studie om hur förskolepedagoger arbetar med TAKK med barn med Downs syndrom ur ett språkutvecklingsperspektiv och vad de anser om att använda TAKK med barn utan särskilda behov

The purpose of this study is to examine how two educators at a preschool that is located in a neighborhood south of Stockholm works with TAKK with children who has Down syndrome in a language promotion purposes. The aim is also to investigate what teachers think about using TAKK with children without special needs and children with Down syndrome.In this study, I used qualitative research methods. I've used both observations and interviews to get answers to my questions. The theories which I have used in this thesis is, socio-cultural perspective, including integration and segregated integration.In order to find out how the educators work with TAKK I have asked these questions:How do the educators work with TAKK with children with Down syndrome from a language development perspective?What do the educators express about using TAKK with children without special needs and with children who has Down syndrome?My conclusions to these questions are that the literatures I have read in many ways are consistent with how they work.

Internet - en plats där du inte behöver vara annorlunda : En kvalitativ internetstudie om personer med Asperger syndrom, om svårigheter och möjligheter som de möter genom samhällets konstruktion.

This study is based on a qualitative internet research about people with Asperger syndrome and their thoughts and opinions about the difficulties that occurs in the environment outside the home and their experiences of Internet. We have analyzed Internets social influences for those with Asperger syndrome, as a consequence of the difficulties that they meet in other environments. The constructed communities in the environment outside the home and the social interaction that occurs there is not adjusted for those with the diagnosis. This leads to difficulties to be there for those with Asperger syndrome. By doing a content analysis of the assembled data from a community site on the Internet, we found out that the environment on Internet is more comfortable for those with the diagnosis in several ways.

Skolkuratorers kunskap och erfarenhet om tics och Tourette syndrom : En kvalitativ intervjustudie

The aim of this study was to examine the knowledge and the experience that school counsellors have about tics and Tourette syndrome. This study is based on a qualitative research which we conducted with semi-structured interviews. We have done five interviews with different school counsellors in a small municipality in southern Sweden. The theoretical approach that was used in this study was theory of knowledge as a comprehensive theory and professional competence which includes formal knowledge and tacit knowledge. Some of the study?s conclusions are that the School Counsellors had different professional competence about tics and Tourette syndrome.

Föräldrar till barn med Downs Syndrom : Skillnader i upplevelser av stöd mellan mödrar och fäder.

Every year 120 children with Downs Syndrome is born in Sweden. The aim of the study was to investigate if there were any differences between mothers and fathers of children with Downs Syndrome regarding: experience of support from health care personnel and physicians in the time of delivery and from who parents sought most emotional support.Participants of the study was 80 mothers and 79 fathers that answered a questionnaire. There was a difference between parents if they thought they received support from health care personnel, mothers (59 %) and fathers (38 %) thought that they didn?t receive support. Emotional support sought mothers (52 %), in grater wideness then the fathers (23 %), with other families with handicapped children.

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