<p>Monogenic disorders offer a possibility for studies of genetic disturbances in hearing impairment—a knowledge which could be essential for development of future treatment options. In this thesis, the underlying genetic disturbances in neurofibromatosis 2 (NF2) and familial Meniere’s disease (FMD) were evaluated, and familial X-linked hearing impairment was described from a clinical point of view. </p><p>In paper I, constitutional DNA from 116 individuals with NF2 of variable severity was studied using the array-CGH method focusing on a 7.6-Mb area surrounding the NF2 gene on chromosome 22q. Deletions were found in 20.7% of samples. In mild NF2, the deletions were small, but variable sizes of deletions were found in cases that were moderately or severely affected. Disease phenotype could not be predicted from the size of the deletions.</p><p>In papers II and III, a single five-generation family with autosomal dominant FMD was described. Anticipation concerning age of onset was observed. Genome scan revealed five candidate gene regions with a LOD score of > 1. Two additional families with autosomal dominant MD were analyzed for linkage to these five regions. A cumulative Zmax of 3.46 was obtained for a single 463-kb region on chromosome 12p12.3, containing only one known gene: PIK3C2G. This encodes a protein with a proposed role in hair cell regeneration in mammalian ears. No mutations were found in protein-coding sequences or exon-intron borders. In two of the three families, a shared haplotype, suggested common ancestry, was found to extend over 1.7 Mb, which could be a genomic region of importance for FMD.</p><p>In paper IV, a family in which five males displayed progressive low- and mid-frequency hearing impairment from the first or second decade was described. Female carriers were affected by a high-frequency hearing impairment from the fourth decade. The family could represent a novel X-linked dominant audiophenotype.</p>

“A child has been born unto us”, is the most beautiful expression of humankind’s ability to cherish hope and trust for the world, writes Hanna Arendt. She describes how every child’s birth is the beginning of something new, something that the title is intended to emphasise. “Us” in the title also indicates that the child with a functional impairment becomes a public child in a special way. The purpose of this study is to describe the experience of becoming a parent when the child has a functional impairment. The study is based on a relational perspective. The theoreticians whose ideas have been used are, aside from Arendt, also Buber, Stern and Winnicott. In the analysis of the parental narratives, inspiration was taken from Ricoeur in a hermeneutic phenomenological approach. Encounters are the themes in this thesis, and have been formulated as encounters with the child, the environment and the professionals. 30 parents (19 mothers and 11 fathers) were interviewed about their experiences of parenthood. The diagnosis of the child’s functional impairment was a chaotic and upsetting situation for the parents. Many strong, different feelings came into play. The parents could feel that they had been “thrown out into space”, and that their future was suddenly taken away from them. The future was what worried them most, and the question that was singled out was “How can we live this life?” Many professionals became involved in the child’s life, which could be both advantageous and disadvantageous for the family. The professionals’ attitudes and advices had a profound influence on the parents. Even though the child became in a sense a public child, the parents also had a feeling of having to carry on a struggle for their child in society, a” struggle of love” demanding the consideration of the child’s potential. Another “struggle of love” initially involved the parents’ own attempts to establish a relationship to the child. Thus there were two “struggles of love”. In their new, hesitant parenthood they had to “find their place in the world” and a way to exist. In their interaction with the child they had two competing figures of mind during the first period, “to be” and “to act”. The grief the parents had felt for the diagnosis could after a while be separated from the child, and it was the child who helped the parents to handle the grief. In the thesis the parents’ experiences are discussed, based on questions confronting them. How playing and training are interrelated is also discussed, as well as the significance of narration and the responsibility of the professionals. These results can be expected to have consequences for special educational work in this field.

In Sweden, about 10% of the adult population experienceshearing problems that cause them difficulties in everydaycommunication, and approximately 60 000 people are providedwith hearing aids each year. Despite the fact that modernhearing aids can facilitate speech communication in a widerange of listening environments, many hearing-aid users aredissatisfied with their hearing aids. It is likely that theclinical methods used for individual fitting of the hearingaids are not optimal. The current study investigates prescriptive methods fornonlinear, wide dynamic range compression (WDRC) hearinginstruments. The goal is to draw general conclusions about thepreferences of hearing aid users. Therefore, the prescriptionsare evaluated using well-established models of loudness andspeech intelligibility. Current methods differed considerably in prescribed gain.Evaluations in a laboratory test, with 20 hearing-impairedlisteners, showed that these differences led to largedifferences in perceived and calculated loudness, but only tominor differences in measured and predicted speech recognitionscores. The difference in loudness was explored in a studywhere 21 first-time hearing-aid users compared twoprescriptions. One method led to normal and the other toless-than-normal overall calculated loudness (according to theloudness model of Moore and Glasberg (1997)). The prescriptionthat led to less-than-normal overall loudness was clearlypreferred in field and in laboratory tests. Preferred overall loudness was then quantified.Hearing-impaired participants with mild to moderate hearingloss preferred considerably less-than-normal overall calculatedloudness in both eld and laboratory tests. There were nosignificant differences between inexperienced and experiencedhearing aid users. Normal-hearing participants, on the otherhand, preferred close-to-normal overall calculated loudness. Inaddition, a potential problem with the loudness model wasencountered: despite the fact that the hearing-impairedlisteners were provided with less than normal overallcalculated loudness, they rated loudness higher than thenormal-hearing listeners. The results refute the most commonly adopted rationale forprescriptive methods for WDRC hearing aids - that overallloudness should be restored to normal. Hearing-impairedlisteners with mild to moderate hearing loss preferredconsiderably less than normal overall loudness. This should betaken into account when deriving new prescriptive methods, andwhen providing clients with hearing aids. Key words:hearing impairment, hearing aid, nonlinear,WDRC, hearing aid experience, prescription, loudness, loudnessmodel, speech intelligibility, preference.

Work has a great influence on most of individuals in society. It influences both identity as well as the structure of the day. Unemployed people are often affected in a negative way through economic and psychological problems. In order to help people with reduced work capacity back to the labour market and decrease unemployment, the Labour Market Board works with vocational rehabilitation. The aim of this study is to investigate experiences of vocational rehabilitation within the Labour Market Board among unemployed people. A qualitative method was used by which interviews were made with 11 unemployed persons who participated in an investigation as a part of vocational rehabilitation within the Labour Market Board. The result shows both positive and negative experiences of the investigation period. The identified experiences were sorted into code groups: Support, Insight, Confidence in the investigation and result, Belief in the future, Motivation, and Participation. Both the actions of the personnel and the presence of the group members influenced the experiences. The support given by the personnel and how it is experienced is of great importance for the future of the unemployed. When the investigation was pursued during a short period of time, there was a lack of confidence in the investigation and result. A suggestions for future studies is to design a questionnaire that can be used in a larger study including a large number of individuals who are participating in vocational rehabilitation within the Labour Market Board.

Wilson's disease (WD), bepatolenticular degeneration, is an autosomal recessive disorder caused by mutations in the ATP7B gene, and is characterised by abnormal metabolism and deposition of copper in the liver, brain and other organs. The main aim of this thesis was to investigate the occurrence of psychopathology, as well as personality traits and neuropsychological function in Swedish patients with treated WD. The research subjects were 29 patients with confirmed WD, investigated at the Department of Internal Medicine at Uppsala University Hospital between 1996 and 2000. The treated WD patients showed prominent psychopathology as determined by the Comprehensive Psychopathological Rating Scale. The spectrum of psychopathological symptoms is not typical of classic psychiatric syndromes, and includes symptoms from Anxiety, Depression and Obsessive-Compulsive disorders as well as Negative Symptoms. In self-assessment, the WD patients tended to underestimate the presence of psychopathological symptoms. The treated WD patients differed in their sleep pattern from the control group, as measured with the Uppsala Sleep Inventory. The spectrum of self-reported symptoms suggests an altered REM sleep function. The treated WD patients had significant deviations in personality traits, especially in aggressivity-hostility related scales and Psychic anxiety, compared to healthy controls, as measured with the Karolinska Scales of Personality. The deviations were not related to age, age at onset or duration of WD. The treated WD patients displayed a specific profile of moderate neuropsychological impairment, as determined by the Automated Psychological Test battery. Finally, an attempt was made to search for, possible genotype-phenotype relationships in some ATP7B mutations.

The main purpose of this study was to examine if, and how, persons with psychological impairments have worse living conditions than the population average. The papers intention was to investigate and describe these conditions and to analyze them based on theories of stigma, and systems theory. This paper was composed on a qualitative study in which god men have been interviewed, in addition to accomplish the purpose. This study has highlighted the four individual areas of economy, employment, housing conditions and social relations. Results have shown that people with mental disabilities tend to live in worse living conditions than the population average. The conclusion of this study is that social service should make more attention to living conditions and social problems that people with mental health difficulties have. This would enable the social worker to his authority in making correct and fair assessments, and increased opportunities to design interventions in a satisfactory manner.

The present study evaluated olfactory and cognitive abilities of the Tg6799 (also called 5xFAD) strain of Alzheimer’s disease (AD) model mice of two different age groups (2-3 and 8-10 months of age), and one group of healthy control mice (9-10 months). Employment of an operant conditioning paradigm using an automated olfactometer, an olfactory habituation/dishabituation test and a spatial learning test with non olfactory cues resulted in data showing that the 5xFAD mice develop olfactory impairments already at 2-3 months of age. The impairments consisted in a robust impairment in olfactory sensitivity, decreased responsiveness to novel odors and an inability to discriminate between enantiomeric odor molecules in the 5xFAD mice compared to control mice. Spatial learning deficits were also detected at this age, suggesting that cognitive functions were also affected. No differences in magnitude of the olfactory or spatial learning impairments could be detected between the age groups of model mice tested. Histological examination of development and presence of amyloid β (Aβ) plaques in the brains showed that plaques develop mainly between the ages of 3 and 8 months. This indicates that soluble Aβ rather than the formation of plaques might be responsible for the olfactory impairment and spatial learning impairments found. By 10 months of age plaque load of the 5xFAD mice was massive. The results of the present study clearly show that the 5xFAD strain might be suitable for research on human AD with regard to the early onset of olfactory impairments.

Prosodi kan sammanfattas som talets rytmiska, dynamiska och melodiska aspekter. Utan prosodi skulle talet förefalla monotont och kommunikationen kunna kompliceras. Syftet med föreliggande studie var att undersöka prosodiska aspekter av nonordsproduktion hos barn med cochleaimplantat och barn med språkstörning. Tidigare studier av prosodi hos nämnda grupper har inte i detalj beskrivit vilka typer av fel som förekommer varför detta var intressant att undersöka. Föreliggande studie baseras på redan insamlat material av nonordsrepetition av sammanlagt 41 barn vilka deltagit i tidigare studier. Av dessa var 27 stycken barn med språkstörning i åldrarna 4:6-7:6 år och fjorton var barn med CI i åldrarna 3:0-13:4. Det inspelade materialet transkriberades och felanalyserades gruppvis och medelvärden för grupperna räknades ut. Barnen med CI uppvisade större prosodiska problem vid nonordsrepetition än barnen med språkstörning. Såväl barnen med språkstörning som barnen med CI uppvisade svårigheter med stavelseproduktion, betoningsplacering, ordaccent och vokalkvantitet. Dock gjorde barnen med CI generellt större antal fel samt fler olika typer av fel jämfört med barnen med språkstörning. Alla barnen med CI gjorde någon typ av prosodiskt fel medan 11 av 27 de barnen med språkstörning producerade korrekt prosodi på samtliga nonord. Barn som hade en högre ålder vid implantation uppvisade större prosodiska svårigheter än barn som implanterats vid en lägre ålder / Prosody can be defined as the rythmic, dynamic and melodic aspects of speech. Without prosody, speech would sound monotonous and communication could be obstructed. The aim of the present study was to examine prosodic aspects of nonword repetition by children with cochlear implants and children with language impairment. Previous studies of prosody in these groups have not in detail described what kinds of errors that occur and therefore this is interesting to investigate. The present study is based on previously collected data of nonword repetition among a total of 41 children, all participating in previous studies. Of these children, 27 were children with language impairment aged between 4:6-7:6 years. Fourteen were children with CI aged between 3:0-13:4. The recorded data was transcribed and analyzed group wise and the mean value of the groups were calculated. Children with CI showed prosodic problems in nonword repetition to a greater extent than children with language impairment did. Both children with language impairment and children with CI had difficulties with number of syllables, stress, tonal word accent and quantity of vowel. However, the children with CI generally made errors to a greater extent as well as more types of errors, compared to the children with language impairment. All children with CI made some type of prosodic error whilst 11 out of 27 of the language impaired children produced all the words prosodically correct. Children who were implanted at an older age showed greater difficulties with prosody than children who were implanted at a younger age.

While reading in deaf children has been the object of a number of studies, the reading abilitiesof children with mild and moderate hearing impairment and their relation to cognitiveprocessing have not received very much attention. Predictive factors of reading ability inhearing children are well known, with phonological and working memory abilities beingnecessary prerequisites for reading development. Existing studies suggest, however, thatcertain hearing-impaired children achieve a reading level comparable to that of hearingchildren in spite of impaired phonological abilities. In the present study, reading abilities anda range of cognitive processing abilities were measured in a group of hearing-impairedchildren and compared with hearing controls in equivalent school grades. Comparisons weremade at group and school-grade level, and the cognitive profile of hearing-impaired childrenat level with controls (those being within one standard deviation) was discussed. The resultssuggest that phonological abilities are important for the hearing-impaired children, but to alesser extent than for normally hearing children. The results also point towards workingmemoryabilities (particularly correct recall of phonemes in nonword repetition) as beingimportant for the possibility to compensate for impaired phonological abilities. / Emedan döva barns läsande har varit föremål för ett antal studier, har läsförmågan hos barnmed mild och måttlig hörselnedsättning och dennas relation till underliggande kognitiva förmågor inte fått mycket uppmärksamhet. Predicerande faktorer för läsförmågan hos hörande barn är väl kända och fonologisk förmåga och arbetsminneskapacitet utgör oumbärliga förutsättningar för läsutvecklingen. Befintliga studier antyder dock att vissa barn med mildoch måttlig hörselnedsättning uppnår en läsförmåga i nivå med hörande barns, trots nedsatt fonologisk förmåga. I föreliggande studie undersöktes läsförmågan och en rad kognitivaförmågor hos en grupp barn med mild och måttlig hörselnedsättning. Jämförelser gjordes medhörande kontroller på gruppnivå och per årskurs, och den kognitiva profilen hos de barn medhörselnedsättning som låg i nivå med kontrollerna (de som låg inom en standardavvikelse) diskuterades. Resultaten antyder att fonologiska förmågor var viktiga för läsning i sambandmed hörselnedsättning, men i mindre utsträckning än för normalhörande barn. Resultaten antyder också att arbetsminneskapacitet (framförallt korrekt fonemåtergivning vidnonordsrepetition) har betydelse för möjligheten att kompensera en nedsatt fonologiskförmåga.

Bakgrund: Företagsförvärv är sedan länge en vanligt förekommande företeelse i företagens tillväxt, vilket bland annat medfört att redovisning av goodwill varit ett flitigt diskuterat ämne. I och med införandet av EUs 4:e direktiv utformar samtliga de i EU noterade bolag från och med 1 juni 2005 sin finansiella rapportering enligt IASBs standardverk IFRS. Förändringen innebär att goodwill istället för att skrivas av över dess nyttjandeperiod nu årligen skall testas för nedskrivning. Något som införts i och med implementeringen av IAS 36 är att goodwill skall fördelas på de kassagenererande enheter som förväntas få synergier av ett förvärv. Identifiering av kassagenererande enheter och fördelning av goodwill på kassagenererande enheter är något som kan orsaka bolagen problem. Syfte: Att undersöka och beskriva hur IAS 36 tolkas i praktiken vid nedskrivningstest av goodwill med avseende på kassagenererande enheter. Genom att syftet uppfylls minskar den kunskapsbrist som finns avseende praxis i användandet av IAS 36. Genomförande: Uppsatsen har genomförts som en kvalitativ fallstudie på ett svenskt bolag. Utöver fallföretaget har ett verifieringsföretag använts. Som förstudie har två redovisningsexperter intervjuats vilka likväl hjälpte till med att förklara IAS 36 olika beståndsdelar. Resultat: Uppsatsen har visat på att IAS 36 rekommendationer inte är så tydlig för företagen som de till en början tycks vara. Såväl identifiering av kassagenererande enheter som fördelning av goodwill kan innebära problem för företagen och att standardens intentioner inte alltid följs. Fallföretagets fördelning av goodwill skulle i förekommande fall kunna ske på en högre nivå än vad den görs idag. Fördelas goodwillen på en högre nivå skull det ske helt i enlighet med det viktiga begreppet rättvisande bild som IASBs föreställningsram hänvisar till. Dagens fördelning av goodwill kan göra att synergier från enheter som inte tilldelats goodwill inte beaktas i den nedskrivningsprövning som görs av goodwill. Uppsatsen har även visat på att väsentlighet är en viktig faktor. Beaktas inte väsentlighet kan identifiering av kassagenererande enheter och fördelning av goodwill bli allt för godtyckligt för att vara av värde, till de beslutsunderlag som används av fallföretagets intressenter.