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Deafblindness: Theory-of-mind, cognitive functioning and social network in Alström syndrome
Örebro University, School of Health Sciences.ORCID iD: 0000-0003-2172-9792
2016 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

This thesis addresses young adults with Alström syndrome (AS). AS causes acquired deafblindness, a severe, progressive, combined auditory and visual impairment affecting daily life and self-reliance to a degree that full participation depends on help from others and society. AS is an autosomal, recessively inherited single-gene disorder that affects the ALMS1 gene. AS has a multi-systemic pathology including a high incidence of additional multiple endocrine abnormalities, cardiomyopathy, pulmonary fibrosis, restrictive lung disease and progressive hepatic and renal failure leading to reduced life expectancy. The focus in the present thesis is on the development of Theory-of-mind (ToM) and on how ToM relates to the development of certain cognitive skills and the characteristics of the individual social network. ToM refers to the ability to understand the thoughts and feelings of others.

The results reveal that individuals with AS displayed a significantly higher degree of heterogeneity in the performance of ToM tasks, and some individuals with AS performed on an equal level with nondisabled individuals. ToM performance was predicted by verbal ability and executive functioning (EF), whereas working memory capacity (WM) proved to be an indirect predictor. Later onset of visual loss further characterized AS individuals with better ToM. The sizes of the social networks of individuals with AS were smaller relative to those of nondisabled individuals, and many of the acquaintances were professionals working with individuals with AS. The number of friends correlated with ToM performance.

Methods to improve verbal ability and EF, and interventions to enhance social participation in childhood of individuals with AS might prove to be fruitful. In addition assistive technology to establish and maintain friendships in adulthood is required.

Place, publisher, year, edition, pages
Örebro: Örebro university , 2016. , 62 p.
Series
Studies from The Swedish Institute for Disability Research, ISSN 1650-1128 ; 78
Keyword [en]
Alström syndrome, Deafblindness, Theory-of-mind, Communication, Verbal ability, Executive functions, Working memory, Health problems, Friendship, Social network
National Category
Other Health Sciences
Research subject
Disability Research
Identifiers
URN: urn:nbn:se:oru:diva-48930ISBN: 978-91-7529-132-1 (print)OAI: oai:DiVA.org:oru-48930DiVA: diva2:908830
Public defence
2016-04-22, Långhuset, Hörsal 2, Örebro universitet, Fakultetsgatan 1, Örebro, 09:00 (Swedish)
Opponent
Supervisors
Available from: 2016-03-03 Created: 2016-03-03 Last updated: 2017-10-17Bibliographically approved
List of papers
1. Theory-of-mind in adolescents and young adults with Alström Syndrome
Open this publication in new window or tab >>Theory-of-mind in adolescents and young adults with Alström Syndrome
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2014 (English)In: International Journal of Pediatric Otorhinolaryngology, ISSN 0165-5876, E-ISSN 1872-8464, Vol. 78, no 3, 530-537 p.Article in journal (Refereed) Published
Abstract [en]

Objective: The study focuses on theory-of-mind in adolescents and young adults with Alström syndrome (ALMS). ALMS, an autosomal recessive syndrome causes juvenile blindness, sensorineural hearing loss, cardiomyopathy, endocrinological disorders and metabolic dysfunction. Theory-of-mind (ToM) refers to the ability to impute mental states to one self and to others. Clinical observations have revealed an increased occurence of deviances in mental state understanding in ALMS. In the present study ToM will be examined and related to working memory (WM), verbal ability and sensory loss.

Methods: Twelve young individuals (16-37 years) with ALMS and 24 nondisabled individuals matched on age, gender and educational level participated. ToM was assessed by means of a multiple task that taxes the ability to understand thoughts and feelings of story chraracters´. WM was examined by means of a reading span task and verbal ability by means of a vocabulary test.

Results: The ALMS group performed at significantly lower levels in ToM tasks and displayed a higher variability in performance than the control group. Individuals with ALMS and a relatively poor level performance provided fewer correct mental state inferences in ToM tasks than ALMS individuals with relatively higher performance levels. ALMS individuals with relatively high performance levels made as many correct inferences in ToM tasks as the control group, but their inferences were more often incomplete. Vocabulary skills and educational level, but not WM-capacity predicted ToM performance. Degree of deafblindness did not have an impact on ToM. Age of onset of visual loss but not hearing loss related to ToM.

Conclusions: The individuals with ALMS display a high degree of heterogeneity in terms of ToM, where some individuals reached performance levels comparable to nondisabled individuals. The results are discussed with respect to how cognitive and verbal abilities and factors related to the disability affect ToM.

Place, publisher, year, edition, pages
Elsevier, 2014
Keyword
Alström syndrome (ALMS), Deafblindness, Theory-of-mind, Working memory, Verbal ability, Dual sensory loss
National Category
Otorhinolaryngology Pediatrics
Identifiers
urn:nbn:se:oru:diva-33957 (URN)10.1016/j.ijporl.2013.12.038 (DOI)000334394400026 ()24485176 (PubMedID)2-s2.0-84893729756 (Scopus ID)
Note

Funding Agencies:

Linnaeus Centre HEAD

JDM

NIH

Available from: 2014-02-27 Created: 2014-02-27 Last updated: 2017-12-05Bibliographically approved
2. Theory of mind and cognitive function in adults with Usher or Alström syndrome
Open this publication in new window or tab >>Theory of mind and cognitive function in adults with Usher or Alström syndrome
(English)Manuscript (preprint) (Other academic)
National Category
Other Health Sciences
Research subject
Disability Research
Identifiers
urn:nbn:se:oru:diva-49433 (URN)
Available from: 2016-03-18 Created: 2016-03-18 Last updated: 2017-10-17Bibliographically approved
3. Theory-of-mind in individuals with Alström syndrome is related to executive functions, and verbal ability
Open this publication in new window or tab >>Theory-of-mind in individuals with Alström syndrome is related to executive functions, and verbal ability
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2015 (English)In: Frontiers in Psychology, ISSN 1664-1078, E-ISSN 1664-1078, Vol. 6, 1426Article in journal (Refereed) Published
Abstract [en]

Objective: This study focuses on cognitive prerequisites for the development of theory-of-mind (ToM), the ability to impute mental states to self and others in young adults with Alström syndrome (AS). AS is a rare and quite recently described recessively inherited ciliopathic disorder which causes progressive sensorineural hearing loss and juvenile blindness, as well as many other organ dysfunctions. Two cognitive abilities were considered; Phonological working memory (WM) and executive functions (EF), both of importance in speech development.                                                                                              

Methods: Ten individuals (18–37 years) diagnosed with AS, and 20 individuals with no known impairment matched for age, gender, and educational level participated. Sensory functions were measured. Information about motor functions and communicative skills was obtained from responses to a questionnaire. ToM was assessed using Happés strange stories, verbal ability by a vocabulary test, phonological WM by means of an auditory presented non-word serial recall task and EF by tests of updating and inhibition.                                           

Results: The AS group performed at a significantly lower level than the control group in both the ToM task and the EF tasks. A significant correlation was observed between recall of non-words and EF in the AS group. Updating, but not inhibition, correlated significantly with verbal ability, whereas both updating and inhibition were significantly related to the ability to initiate and sustain communication. Poorer performance in the ToM and EF tasks were related to language perseverance and motor mannerisms.                                                     

Conclusion: The AS group displayed a delayed ToM as well as reduced phonological WM, EF, and verbal ability. A significant association between ToM and EF, suggests a compensatory role of EF. This association may reflect the importance of EF to perceive and process input from the social environment when the social interaction is challenged by dual sensory loss. We argue that limitations in EF capacity in individuals with AS, to some extent, may be related to early blindness and progressive hearing loss, but maybe also to gene specific abnormalities.

Keyword
Alström syndrome (AS), ciliopathy, deafblindness, theory-of-mind, verbal ability, executive functions
National Category
Psychology (excluding Applied Psychology)
Research subject
Psychology
Identifiers
urn:nbn:se:oru:diva-46002 (URN)10.3389/fpsyg.2015.01426 (DOI)000361813000001 ()26441796 (PubMedID)
Funder
NIH (National Institute of Health), HDO36878
Note

Funding Agency:

Linnaeus Centre HEAD

Available from: 2015-10-02 Created: 2015-10-02 Last updated: 2017-12-01Bibliographically approved
4. Theory-of-mind in young adults with Alström syndrome is affected by social relationships
Open this publication in new window or tab >>Theory-of-mind in young adults with Alström syndrome is affected by social relationships
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(English)Manuscript (preprint) (Other academic)
National Category
Other Health Sciences
Research subject
Disability Research
Identifiers
urn:nbn:se:oru:diva-49434 (URN)
Available from: 2016-03-18 Created: 2016-03-18 Last updated: 2017-10-17Bibliographically approved

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