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Cognitive capacities and composite cognitive skills in individuals with Usher syndrome type 1 and 2
Linköping University, Department of Behavioural Sciences and Learning. Linköping University, Faculty of Arts and Sciences.
2015 (English)Doctoral thesis, comprehensive summary (Other academic)Alternative title
Kognitiva förmågor och färdigheter hos personer med Usher syndrome typ 1 och 2 (Swedish)
Abstract [en]

The present thesis belongs to the research area disability research and deal with specific aspects of cognition in individuals with Usher syndrome type 1 and 2. The subject has been investigated and is discussed within an interdisciplinary framework, though the theories applied and described are derived from the area of cognitive psychology. Usher syndrome is a rare genetic condition causing a combination of visual and hearing impairment: deafblindness. There is a congenital hearing loss that is profound in type 1 and moderate to severe in type 2. During mid-childhood symptoms of visual impairment, e.g. light sensitivity, emerge and a progressive loss of visual field follows as a result of the genetically caused eye disease Retinitis Pigmentosa. The syndrome has previously been well described with respect to the genetical and medical aspects, but there has been very little research with a cognitive perspective on the population. Studies 1 and 2 in the present thesis focused on children with Usher syndrome type 1 with cochlear implants and investigated phonological skills, lexical access, working memory and reading skill in the group. Studies 3 & 4 investigated the same cognitive abilities and theory of mind in adults with Usher syndrome type 2. In study 4 the performance on theory of mind in the adults with Usher syndrome type 2 was also compared to that of another group with genetically caused deafblindness: individuals with Alström syndrome.

The results were that both the children and adults with Usher syndrome had significantly poorer phonological processing than the control groups with normal hearing. There was a large variation on performance on lexical access, especially in the group of children, however several individuals performed at the same level as the control group. Reading skill was found to be at level with the control groups’. There was also great variation in performance on ToM, however the majority of individuals performed similar to the control group with normal hearing and vision. The present project has resulted in some new knowledge on cognitive performance in  individuals with Usher syndrome type 1 and type 2. Performance in the participants with Usher syndrome can to a large extent can be understood by application of the models developed in previous research on populations with hearing impairment or deafness for understanding the impact of hearing with a hearing aid or cochlear implant. However, individuals with Usher syndrome experience additional difficulties in accessing information due to the progressive visual loss and the impact this has on performance is still largely unknown. Hence, the present project would recommend that interventions and support would be designed specifically to each individuals’ needs, with consideration of both the visual impairment and the hearing impairment.

Abstract [sv]

Föreliggande avhandling tillhör ämnet handikappvetenskap och beskriver specifika kognitiva förmågor hos personer med Ushers syndrom typ 1 och 2. Avhandlingens ämne har undersökts utifrån ett tvärvetenskapligt perspektiv, även om de teorier som tillämpas och beskrivs huvudsakligen härrör inom området kognitiv psykologi. Ushers syndrom är en ovanlig genetisk åkomma som leder till kombinationen av syn- och hörselnedsättning: dövblindhet. Individer med typ 1 av syndromet har medfödd dövhet medan individer med typ 2 har en medfödd måttlig till grav hörselnedsättning. Någon gång i åldrarna 6-10 år börjar de första symptomen, till exempel nedsatt mörkerseende, på den genetiskt betingade progressiva synnedsättningen Retinitis Pigmentosa att framträda. Syndromet är väl beskrivet i forskningen med avseende på genetiska och medicinska aspekter, men det finns extremt lite tidigare forskning med kognitivt perspektiv om populationen. Studierna 1 och 2 i föreliggande avhandling fokuserade på barn med Ushers syndrom typ 1 och cochleaimplantat. Dessa studier undersökte fonologisk förmåga, lexikal access, arbetsminne och läsning i gruppen. Studie 3 undersökte samma kognitiva förmågor hos vuxna med typ 2 av syndromet. I studie 4 undersöktes även den sammansatta förmågan Theory of Mind hos de vuxna med typ 2 och deras prestation jämfördes både mot en kontroll grupp med normal hörsel och syn och en kontrollgrupp med annan typ av dövblindhet; Alström syndrom. Resultaten visade att både barnen och de vuxna med Ushers syndrom hade signifikant sämre fonologisk förmåga än kontrollgruppen med normal hörsel. Nivån på prestation varierade stort inom grupperna, särskilt mellan barnen med typ 1, och flera av individerna (barn och vuxna) presterade trots hörselnedsättningen på samma nivå som de normalhörande. Läsfärdigheten befanns vara i nivå med kontrollgrupperna. I den vuxna gruppen var det stor variation i prestation även på Theory of Mind, men de flesta av individerna presterade liknande som kontrollgruppen med normal hörsel och syn. Föreliggande projekt har resulterat i lite mer kunskap om kognitiva färdigheter hos individer med Ushers syndrom typ 1 och 2. De resultat som individerna med Ushers syndrome presterade kan till stor del förstås och tolkas genom tillämpning av teorier och modeller utvecklade för att den inverkan på kognitiva förmågor det har att ha nedsatt hörsel och höra med hjälp av hörselapparat eller cochleaimplantat. Dock tyder fynden i detta projekt även på att individer med Ushers syndrom på grund av den allvarliga synnedsättningen har ytterligare svårigheter att få tillgodogöra sig information, men i vilken utsträckning och på vilket sätt är ännu inte beskrivet. Utifrån fynden i föreliggande studie blev rekommendation att interventioner och stöd till personer med Ushers syndrom utformas specifikt till varje individ, med hänsyn taget både till hens grad av synnedsättning och hörselnedsättning.

Place, publisher, year, edition, pages
Linköping: Linköping University Electronic Press, 2015. , 63 p.
Series
Linköping Studies in Arts and Science, ISSN 0282-9800 ; 651Studies from the Swedish Institute for Disability Research, ISSN 1650-1128 ; 72
Keyword [en]
Usher syndrome, Cognition, Phonological skills, Lexical Access, Working memory, Reading, Theory of Mind, Deafblindness
Keyword [sv]
Ushers syndrom, Kognition, Fonologisk förmåga, Lexikal access, Arbetsminne, Läsning, Theory of Mind, Dövblindhet
National Category
Psychology Social Sciences Interdisciplinary
Identifiers
URN: urn:nbn:se:liu:diva-120114DOI: 10.3384/diss.diva-120114ISBN: 978-91-7685-999-5 (print)OAI: oai:DiVA.org:liu-120114DiVA: diva2:840966
Public defence
2015-09-07, Key 1, Hus Key, Campus Valla, Linköpings Universitet, Linköping, 10:00 (Swedish)
Opponent
Supervisors
Available from: 2015-07-10 Created: 2015-07-09 Last updated: 2015-09-02Bibliographically approved
List of papers
1. Cognitive skills in children with Usher syndrome type 1 and cochlear implants
Open this publication in new window or tab >>Cognitive skills in children with Usher syndrome type 1 and cochlear implants
Show others...
2012 (English)In: International Journal of Pediatric Otorhinolaryngology, ISSN 0165-5876, E-ISSN 1872-8464, Vol. 76, no 10, 1449-1457 p.Article in journal (Refereed) Published
Abstract [en]

Introduction: Usher syndrome is a genetic condition causing deaf-blindness and is one of the most common causes of syndromic deafness. Individuals with USH1 in Sweden born during the last 15 years have typically received cochlear implants (CI) as treatment for their congenital, profound hearing loss. Recent research in genetics indicate that the cause of deafness in individuals with Usher type 1 (USH1) could be beneficial for the outcome with cochlear implants (CI). This population has not previously been the focus of cognitive research.

Objective: The present study aims to examine the phonological and lexical skills and working memory capacity (WMC) in children with USH1 and CI and to compare their performance with children with NH, children with hearing-impairment using hearing-aids and to children with non-USH1 deafness using CI. The participants were 7 children aged 7-16 years with USH1 and CI.

Methods: The participants performed 10 sets of tasks measuring phonological and lexical skills and working memory capacity.

Conclusions: The results indicate that children with USH1 and CI as a group in general have a similar level of performance on the cognitive tasks as children with hearing impairment and hearing aids. The group with USH1 and CI has a different performance profile on the tests of working memory, phonological skill and lexical skill than children with non-USH1 deafness using CI, on tasks of phonological working memory and phonological skill.

National Category
Social Sciences Interdisciplinary Psychology
Identifiers
urn:nbn:se:liu:diva-78068 (URN)10.1016/j.ijporl.2012.06.020 (DOI)000310048800012 ()
Available from: 2012-06-05 Created: 2012-06-05 Last updated: 2017-12-07
2. Reading skill in five children with Usher Syndrome type 1 and Cochlear implants
Open this publication in new window or tab >>Reading skill in five children with Usher Syndrome type 1 and Cochlear implants
2015 (English)Manuscript (preprint) (Other academic)
Abstract [en]

Objective: The aim of this study was to explore and describe reading skill in children with Usher syndrome type 1 and who have cochlear implants (USH1+CI), and to position their performance in relation to that of three control groups: children with normal hearing (NH), children with hearing impairment and hearing aids (HI+HA), and children with other types of deafness and CI (other CI).

Method: Reading comprehension and decoding was measured in five children with USH1+CI in the ages 7.5–16 years. The children participated during a test session of 2–2.5 hours and performed tests including reading skill, WM, phonological skills, and lexical skills.

Results: Four of the children with USH1+CI achieved results similar to those of the control group with NH on the measures of reading skill. One child with USH1+CI performed below all control groups. Three of the children with USH1+CI had high performance on both the measures of phonological skill and on the tests of reading skill. The groups perform similar results on the tests of reading skill.

Conclusions: Three of the children with USH1+CI decode non-words with a phonological decoding strategy, similar to the strategy applied by the control group with NH. Two of the children with USH1+CI relied on an orthographic decoding strategy, possibly relying on other cognitive skills than the phonological strategy.

Keyword
Reading skill; Usher syndrome type 1; Cochlear Implant; phonological skills; working memory
National Category
Social Sciences Interdisciplinary Psychology
Identifiers
urn:nbn:se:liu:diva-120112 (URN)
Available from: 2015-07-09 Created: 2015-07-09 Last updated: 2015-07-10Bibliographically approved
3. Cognitive skills and reading in adults with Usher syndrome type 2
Open this publication in new window or tab >>Cognitive skills and reading in adults with Usher syndrome type 2
2015 (English)In: Frontiers in Psychology, ISSN 1664-1078, E-ISSN 1664-1078, Vol. 6, no 326Article in journal (Refereed) Published
Abstract [en]

Objective: To investigate working memory (WM), phonological skills, lexical skills, and reading comprehension in adults with Usher syndrome type 2 (USH2). Design: The participants performed tests of phonological processing, lexical access, WM, and reading comprehension. The design of the test situation and tests was specifically considered for use with persons with low vision in combination with hearing impairment. The performance of the group with USH2 on the different cognitive measures was compared to that of a matched control group with normal hearing and vision (NVH). Study Sample: Thirteen participants with USH2 aged 21-60 years and a control group of 10 individuals with NVH, matched on age and level of education. Results: The group with USH2 displayed significantly lower performance on tests of phonological processing, and on measures requiring both fast visual judgment and phonological processing. There was a larger variation in performance among the individuals with USH2 than in the matched control group. Conclusion: The performance of the group with USH2 indicated similar problems with phonological processing skills and phonological WM as in individuals with long-term hearing loss. The group with USH2 also had significantly longer reaction times, indicating that processing of visual stimuli is difficult due to the visual impairment. These findings point toward the difficulties in accessing information that persons with USH2 experience, and could be part of the explanation of why individuals with USH2 report high levels of fatigue and feelings of stress (Wahlqvist et al., 2013).

Place, publisher, year, edition, pages
Frontiers, 2015
Keyword
deafblindness; Usher syndrome; phonological skill; lexical skill; working memory; reading
National Category
Psychology (excluding Applied Psychology)
Identifiers
urn:nbn:se:liu:diva-117380 (URN)10.3389/fpsyg.2015.00326 (DOI)000351714000001 ()25859232 (PubMedID)
Note

Funding Agencies|Swedish Research Council Forte; Audiological Research Centre in Orebro

Available from: 2015-04-24 Created: 2015-04-24 Last updated: 2017-12-04
4. Theory-of-mind and cognitive function in adults with Usher and Alström syndromes
Open this publication in new window or tab >>Theory-of-mind and cognitive function in adults with Usher and Alström syndromes
2016 (English)In: Journal of Visual Impairment & Blindness, ISSN 0145-482X, E-ISSN 1559-1476, Vol. 110, no 5, 349-366 p.Article in journal (Refereed) Published
Abstract [en]

Objective: Theory-of-Mind (ToM) refers to the ability to impute mental states to one self and to others. ToM was investigated in adults with Usher syndrome type II (USH2) and Alström syndrome (AS) - two syndromes causing acquired deafblindness. The syndromes differ with regard to onset and degree of sensory loss. Individuals with AS in contrast to individuals with USH2 display a high incidence of additional physical diseases. Cognitive shortcomings are generally not observed in USH2 or in AS, but cognitive delay and a delay in receptive language have been reported in AS. The results were compared to adults with normal hearing and vision (NHV).

Methods: Thirteen persons with USH2, 12 persons with AS, and 33 persons with NHV participated. All participants performed a test of working memory capacity and verbal ability. ToM was tested with Happe´s Strange Stories test, taxing the ability to understand the emotions and actions of story characters, comprising a mental condition. The test also include a section of matched stories, tapping verbal problem solving ability in a physical condition, and a set of tasks tapping the ability to recall verbal material.

Results: There were no differences between the three groups in the ability to recall verbal material. Significant differences were however established on working memory, and on verbal problem solving in a physical condition, with higher results for the NHV group. The two groups with deafblindness also displayed poorer ToM performance than the NHV group, by producing fewer correct mental references. The two groups with deafblindness differed from each other also in the ability to produce mental inferences as such, where the USH group outperformed the AS group. Intra-group variability in this ability was also observed within the two syndromal groups. Differences were related to verbal ability, complex working memory capacity, visual status, and to a minor extent auditory capacity. The prevalence and severity of additional physical diseases in AS was not related to ToM performance.

Conclusions: A limited access to information as a function of sensory loss could influence degree of experience of the physical world, but also of social situations and of communication, affecting ToM development negatively. Early loss of visual field and visual acuity was related to ToM performance in individuals with USH2 and AS. Access to information also requires processing skills promoted by effective cognitive skills. Working memory capacity was related to ToM in USH. This relation also points to the contribution of hearing in development of ToM. Differences between the two groups could be a function of genetic conditions, where the gene causing USH2 only affects the ear and the eye, while AS in addition has a multi-systemic pathology with varying onset and degree. Differences in ToM performance in the AS group could however not be directly attributed to health conditions.

Place, publisher, year, edition, pages
AMER FOUNDATION BLIND, 2016
Keyword
Usher syndrome (USH); Alström syndrome (AS); Theory-of-Mind; Deafblindness; physical disorders
National Category
Social Sciences Interdisciplinary Psychology
Identifiers
urn:nbn:se:liu:diva-120113 (URN)000384900000006 ()
Note

Funding agencies: Linnaeus Centre HEAD

Available from: 2015-07-09 Created: 2015-07-09 Last updated: 2017-12-04Bibliographically approved

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