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Cognitive Capacities and Composite Cognitive Skills in Individuals with Usher Syndrome Type 1 and 2

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Cognitive Capacities and Composite Cognitive Skills in Individuals with Usher Syndrome Type 1 and 2 Cognitive capacities and composite cognitive skills in individuals with Usher syndrome type 1 and 2 Cecilia Henricson Linköping Studies in Arts and Science No. 651 Studies from the Swedish Institute for Disability Research No. 72 Linköping University, Department of Behavioural Sciences and Learning Linköping 2015 Linköping Studies in Arts and Science No. 651 Studies from the Swedish Institute for Disability Research No. 72 At the Faculty of Arts and Sciences at Linköping University, research and doctoral studies are carried out within broad problem areas. Research is organized in interdisciplinary research environments and doctoral studies mainly in graduate schools. Jointly, they publish the series Linköping Studies in arts and Science. This thesis comes from the Swedish Institute for Disability Research at the Department of Behavioural Sciences and Learning. Distributed by: Department of Behavioural Sciences and Learning Linköping University SE-581 83 Linköping Cecilia Henricson Cognitive capacities and composite cognitive skills in individuals with Usher syndrome type 1 and 2 Edition 1:1 ISBN 978-91-7685-999-5 ISSN 0282-9800 ISSN 1650-1128 ©Cecilia Henricson Department of Behavioural Sciences and Learning, 2015 Printed by: LiU-Tryck, Linköping 2015 Table of Content List of Papers ............................................................................................................................. 3 List of Abbreviations ................................................................................................................. 4 Introduction ............................................................................................................................... 5 Thesis outline ......................................................................................................................... 5 Theoretical framework of the thesis .................................................................................... 5 Deafblindness ..................................................................................................................... 8 Usher Syndrome (USH) ...................................................................................................... 9 Alström Syndrome (AS) ................................................................................................... 10 Hearing Aids and Cochlear implants (CI) ......................................................................... 11 Central Concepts .................................................................................................................. 13 Phonological skills ............................................................................................................ 14 Lexical skills ...................................................................................................................... 16 Working Memory ............................................................................................................. 17 Reading skill ..................................................................................................................... 19 Theory of Mind (ToM) ...................................................................................................... 21 The Empirical Studies .............................................................................................................. 24 General Aims ........................................................................................................................ 24 Specific Aims ........................................................................................................................ 24 Method ................................................................................................................................ 25 Methodological Challenges and Considerations ............................................................ 25 Ethical considerations ...................................................................................................... 25 Design and data collection .............................................................................................. 26 General procedure ........................................................................................................... 27 Tests .................................................................................................................................. 28 Measures .......................................................................................................................... 33 Participants ...................................................................................................................... 33 Levels of Analysis ............................................................................................................. 36 Summary of the Papers ....................................................................................................... 38 Paper I. ............................................................................................................................. 38 Paper II. ............................................................................................................................ 40 Paper III. ........................................................................................................................... 41 Paper IV. ........................................................................................................................... 43 1 General discussion .................................................................................................................. 44 Summary of Empirical Findings ........................................................................................... 44 General performance .......................................................................................................... 45 The bio-psycho-social perspective ...................................................................................... 45 Cognitive skills and design of interventions ....................................................................... 46 Theory of mind in individuals with deafblindness ............................................................. 47 Discussion on methods ........................................................................................................ 48 Conslusions .......................................................................................................................... 48 Future Directions ..................................................................................................................... 49 Acknowledgments ................................................................................................................... 50 References ............................................................................................................................... 51 2 List of Papers Paper 1 Henricson C., Wass M., Lidestam B., Möller C., Lyxell B. (2012) Cognitive skills in children with Usher syndrome type 1 and cochlear implants. International Journal of. Pediatric. Otorhinolaryngology, 76, 1449–57. Paper 2 Henricson C., Lidestam B., Möller C., Lyxell B. Reading skill in five children with Usher type 1 and cochlear implants. (manuscript) Paper 3 Henricson, C., Lidestam, B., Lyxell, B., Möller, C. (2015). Cognitive skills and reading in adults with Usher syndrome type 2. Frontiers in Psychology, 6(326). doi: 10.3389/fpsyg.2015.00326 Paper 4 Henricson C., Frölander H-E., Möller C., Lyxell B. Theory of Mind and cognitive function in adults with Usher and Alström syndromes. (manuscript) 3 List of Abbreviations AS: Alström Syndrome CI: Cochlear Implant HA: Hearing Aid HI: Hearing impairment HI+HA: Hearing impairment rehabilitated with Hearing aids HL: Hearing Loss NH: Normal Hearing NHV: Normal Hearing and Vision P.corr.c: Percent Correct Consonants Phon.WM: Phonological Working Memory SRN: Serial Recall of Non-words ToM: Theory of Mind USH: Usher syndrome USH1: Usher syndrome type 1 USH1+CI: Usher syndrome type 1 with CI as treatment for the profound deafness USH2: Usher syndrome type 2 WM: Working Memory 4 Introduction The present thesis investigates the impact of the combination of hearing and visual impairment on a set of basic cognitive abilities, and two composite abilities. The population with Usher syndrome (USH) was selected, as the conditions of the syndrome are relatively well known with regard to genetics and medicine, but very few studies have focused on the population from a cognitive perspective. Research within the area of cognitive hearing science has demonstrated that better understanding of the interplay between cognitive skills and sensory input can be important to the design of treatments, devices, and interventions aimed at improving communication (e.g., Alt & Suddarth, 2012; Baddeley, 2003; Hua, Karlsson, Widén, Möller, & Lyxell, 2013; Ng, Rudner, Lunner, Pedersen, & Rönnberg, 2013; Rönnberg, Rudner, Lunner, & Zekveld, 2010). In the present thesis levels of phonological skill, lexical skill and working memory capacity in children with Usher syndrome type 1 (USH1), and in adults with Usher syndrome type 2 (USH2) has been examined. Furthermore, two composite cognitive skills were selected for investigation: reading skill (in both the children and adults), and theory of mind (in the adult group). Thesis outline The main theme of the present thesis is the level of functioning of three basic cognitive abilities (i.e., lexical skill,
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