Deafblindness
Theory-of-mind, cognitive functioning and social network in Alström
syndrome
To my family
Studies from the Swedish Institute for Disability Research 78
HANS-ERIK FRÖLANDER
Deafblindness
Theory-of-mind, cognitive functioning and social network in
Alström syndrome
© Hans-Erik Frölander, 2016
Title: Deafblindness - Theory-of-mind, cognitive functioning and social network
in Alström syndrome
Publisher: Örebro University 2016
www.oru.se/publikationer-avhandlingar
Print: Örebro University, Repro 03/2016
ISSN 1650-1128
ISBN 978-91-7529-132-1
Abstract
Hans-Erik Frölander (2016): Deafblindness - Theory-of-mind, cognitive functioning and social network in Alström syndrome: Studies from the Swedish
Institute for Disability Research 78.
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.
Keywords: Alström syndrome, Deafblindness, Theory-of-mind, Communication, Verbal ability, Executive functions, Working memory, Health
problems, Friendship, Social network
Örebro University, SE-701 82 Örebro, Sweden, [email protected]
Abbreviations
ADHD
ALMS1
ANOVA
AS
ASD
ASI
CI
CSCT
dB HL
EFs
HI
ICF
ID
LMBB
LTM
MANOVA
MSNA
NHV
PhoWM
PTA4
RP
SLI
SNI
ToM
USH
USH1
USH2
USH3
VA
VF
VI
WAIS
WHO
WMC
Attention Deficit/Hyperactivity Disorder
The Alström syndrome gene
Analysis of Variance
Alström syndrome
Autism Spectrum Disorders
The Alström Syndrome International
Cochlear Implants
Cognitive Spare Capacity Test
Decibel Hearing level
Executive Functions
Hearing Impairment
The International Classification of Functioning
Intellectual Disability
Laurence-Moon-Bardet-Biedl syndrome
Long-term memory
Multivariate Analyses of Variance
The Maastricht Social Network Analysis
Normal Hearing and Vision
Phonological Working memory
Pure Tone Average for four frequencies (0.5-4 kHz)
Retinitis Pigmentosa
Specific Language Impairment
The Social Network Inventory
Theory-of-mind
Usher syndrome
Usher syndrome type 1
Usher syndrome type 2
Usher syndrome type 3
Visual Acuity
Visual Field
Visual Impairment
The Wechsler Adult Intelligence Scale
The World Health Organization
Working Memory Capacity
Included studies
The present thesis is based on the following four studies, which are referred to in
the text by their roman numerals:
I.
Frölander, H. E., Möller, C., Marshall, J. D., Sundqvist, A.,
Rönnåsen, B., Falkensson, L., & Lyxell, B. (2014).Theory-of-mind in
adolescents and young adults with Alström syndrome. International
journal of Pediatric Otorhinolaryngology, 78, 530 – 537.
II.
Henricsson, C., Frölander, H. E., Möller, C., & Lyxell, B. Theory of
mind and cognitive function in adults with Usher or Alström
syndrome. Journal of Visual Impairment & Blindness, accepted for
publishing.
III.
Frölander, H. E., Möller, C., Rudner, M., Mishra, S., Marshall, J. D.,
Piacentini, H., & Lyxell, B. (2015).Theory-of-mind in individuals
with Alström syndrome is related to executive functions, and verbal
ability. Frontiers in Psychology, 6 (1426). Doi:
10.3389/fpsyg.2015.01426.
IV.
Frölander, H. E., Möller, C., Marshall, J. D., Piacentini, H., &
Lyxell, B. Theory-of-mind in young adults with Alström syndrome is
affected by social relationships. In manuscript.
Reprints were made available with the permission of the publishers.
Table of Contents
1. INTRODUCTION ............................................................................. 9
1.1.
Thesis outline ....................................................................... 9
1.2.
Deafblindness ..................................................................... 10
1.3.
Alström syndrome and Usher syndrome ............................. 11
1.4.
Theory-of-mind .................................................................. 13
1.5.
Cognitive functioning ......................................................... 15
1.5.1.
Verbal ability ...................................................................... 15
1.5.2.
Executive functions............................................................. 16
1.5.3.
Working memory ............................................................... 16
1.6.
Social network .................................................................... 17
1.7.
ToM in relation to sensory capacity, cognition and
social factors ....................................................................... 18
2.
METHODS ..................................................................................... 19
2.1.
Methodological challenges ................................................. 19
2.2.
General aims ....................................................................... 20
2.3.
Participants ......................................................................... 21
2.4.
Assessments ........................................................................ 22
2.4.1.
Hearing .............................................................................. 22
2.4.2.
Visual acuity ....................................................................... 23
2.4.3.
Visual field ......................................................................... 23
2.4.4.
Degree of deafblindness ...................................................... 23
2.4.5.
Vestibular functions............................................................ 23
2.4.6.
Motor development, language, thinking and social behavior.. 23
2.4.7.
Theory-of-mind .................................................................. 24
2.4.8.
Verbal ability ...................................................................... 24
2.4.9.
Executive Functions ............................................................ 24
2.4.10.
Working memory ............................................................... 25
2.4.11.
Social network .................................................................... 25
2.5.
Analysis .............................................................................. 25
2.5.1.
Ethical approval and considerations ................................... 27
3.
SUMMARY OF THE STUDIES....................................................... 28
4. DISCUSSION ................................................................................... 31
4.1.
Sensory loss and ToM ........................................................ 32
4.2.
Hearing loss, speech perception and ToM .......................... 32
4.3.
ToM, visual loss and social interplay.................................. 33
4.4.
ToM, EF, WM, verbal ability and communication ............. 34
4.5.
Biology and cognitive functions .......................................... 35
4.6.
Social interaction and development of ToM ....................... 35
4.7.
Effect of friendship on development of advanced ToM ...... 36
4.8.
Conclusions ........................................................................ 37
4.9.
Future research ................................................................... 37
5.
SAMMANFATTNING PÅ SVENSKA/SWEDISH SUMMARY ...... 39
6.
ACKNOWLEDGMENTS ................................................................ 41
7.
REFERENCES ................................................................................. 44
1. Introduction
The understanding of other humans´ emotional and intellectual life must
be something absolutely fundamental (David Katz, born 1884).
This thesis is about 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 127. Emphasis is
placed on the emergence and expression of Theory-of-mind (ToM) in
challenging conditions. ToM refers to the understanding of emotions and
thoughts of other individuals 45, 55, 80, 133, 146. The challenge referred to is the
deafblindness and, in addition, a high prevalence of additional health
problems such as cardiomyopathy, endocrine disorders and metabolic
dysfunctions, which are health problems that are often implicated in a
shortened life expectancy. No previous research has focused on this issue in
this population.
An understanding of the specific challenges for individuals with dual
sensory loss requires a perspective that links biological, psychological and
social elements to one another 22. The thesis focuses on the interaction
between sensory prerequisites and individual capacity to compensate for the
loss of sensory information by the use of cognitive skills. The phenotype of
AS is portrayed in this respect, requiring a description of deafblindness in
relation to biological, psychological, social and cultural perspectives. A
specific focus on the interaction between functioning and disabling
consequences is further required 123, 181. Comparisons with nondisabled
populations are conducted to confirm whether ToM performance in
individuals with AS diverges from performance by nondisabled individuals.
Comparisons to other disabled populations with sensory loss enables
examination of mechanisms of importance in the development of ToM in
AS.
1.1. Thesis outline
This thesis begins with a definition of deafblindness and a description of
its consequences for social participation. Then, the clinical features of AS
are introduced, with a focus on the gradual loss of both hearing and vision.
The secondary consequences of deafblindness will be investigated via a
comparison to Usher syndrome (USH), another deafblind syndrome that
differs from AS with respect to onset and degree of loss. Differences in ToM
HANS-ERIK FRÖLANDER Deafblindness – Theory-of-mind in Alström syndrome
9
will be briefly described and discussed. The possible compensatory role of
cognitive skills in communication challenged by dual sensory loss is
explored. In addition, the relationship between development of ToM and
the capacity and features of the social environment (i.e., the social network)
is described. The consequences of poor health in the development of ToM
are also emphasized. Finally, clinical applications and suggested future
studies are presented.
1.2. Deafblindness
Deafblindness is extremely heterogeneous, and different definitions of
deafblindness have been used, some following legal definitions of deafness
and blindness. Other definitions refer to the functional consequences of dual
sensory loss and include physical, social and attitudinal factors within the
environment 181. The most frequently used definition in the Nordic countries
states that deafblindness affects daily life and self-reliance to a degree that
full participation depends on help from others and from society 127. The
absence of an exact definition complicates an estimation of absolute
numbers, although the prevalence of deafblindness has been estimated to be
14/100 000 25. The causes are predominantly genetic, and more than 50
hereditary syndromes cause acquired deafblindness 123. Deafblindness can
be congenital (i.e., severe visual and hearing loss at birth) or acquired
(causing a progressive dual sensory loss later in life), as in the case of AS 124.
Severe sensory loss has a negative effect on the ability to develop
communicative and verbal skills (cf. 101, 111, 115, 134, 140). It has thus been
proposed that early severe hearing loss for children in hearing families leads
to poor social interaction, delaying ToM development, whereas native
signers with signing parents display a relatively normal ToM development
114, 137, 138, 166
. Additionally, early visual loss has an effect and might cause a
delay in the development of ToM 27, 115, 134, 150. In contrast to the cases of
individuals with Autism spectrum disorders (ASD), the development of
ToM might be delayed but does not differ in individuals with severe hearing
impairment or severe visual impairment 81. The combined effect of
deafblindness on development of ToM has not been previously studied.
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HANS-ERIK FRÖLANDER Deafblindness – Theory-of-mind in Alström syndrome
1.3. Alström syndrome and Usher syndrome
AS is an autosomal, recessively inherited
single-gene disorder addressing the ALMS1
gene. Both parents are of necessity carriers
but do not exhibit features of the syndrome.
AS has an incidence of less than one per
million 104 However, AS is closely related to
a group of other syndromes within the
ciliopathy spectrum that often shares major
features 106. The syndrome is named after the
Swedish psychiatrist and geriatrician CarlHenry Alström. In 1959, he described a
group of patients with the clinical diagnosis
Carl-Henry Alström
of Laurence-Moon-Bardet-Biedl (LMBB) but
(1907-1993)
without the severe cognitive dysfunction that
is typical in LMBB. Despite similarities with
the prevalence of retinitis pigmentosa and hearing loss, differences in clinical
manifestations and endocrinological profiles and genetic differences were
found 3. 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. AS has a mild sensorineural hearing loss,
slowly progressing in the first decade, usually to moderate or severe loss in
following decades. The severity is variable, and age of onset varies from
infancy to adulthood. Otitis media is frequent, causing an additive
conductive hearing loss. The medical care for the population is improving;
with a prolonged life span, it is clear that the loss of hearing in patients over
30 years of age is profound, with a need for cochlear implants (CI). The
progression of visual loss is faster than that of hearing loss. Although there
is variability in age of onset, dysfunction is typically demonstrated within a
few weeks after birth. Retinal dystrophy leads to retinitis pigmentosa (RP)
and juvenile blindness in 90% of the cases by the age of 16. Cone dystrophy
occurs first; hence, visual experience in early childhood primarily comes
from rods, which are accountable for peripheral and night vision. Motor
development is often delayed in AS, and repetitive motor mannerisms occur.
Deficits in coordination balance and fine motor skills have been observed
in addition to a language delay and atypical behavior such as lacking
inhibition of irrelevant responses, extreme stubbornness and excessive
HANS-ERIK FRÖLANDER Deafblindness – Theory-of-mind in Alström syndrome
11
eating 104 (Möller and Marshall, 2015, personal communication). A higher
frequency of conditions along the autism spectrum disorder (3-4%), ranging
from autism to milder forms such as Asperger syndrome and restricted,
repetitive or stereotyped patterns of behavior, have been reported in AS 106.
Fig. 1 Symptoms in Alström syndrome
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HANS-ERIK FRÖLANDER Deafblindness – Theory-of-mind in Alström syndrome
Usher syndrome (USH) is another autosomal, recessively inherited
condition that causes loss of hearing and vision. USH is included in the
empirical part of this thesis to examine more general consequences of dual
sensory loss and to compare these consequences with individuals with AS.
USH accounts for more than 50% of individuals with deafblindness 130, 157.
Due to a high degree of clinical heterogeneity in USH in sensory functioning,
the present classification into three subtypes (USH1-3) was determined. Of
these subtypes, individuals with USH2 display the most similarities to AS
when sensory functions are addressed, implicating differences in both the
rate of progression and degree of loss. Individuals with USH2 have a
congenital non-progressive moderate-to-severe hearing loss. USH2 also
includes RP, which leads to severe visual impairment. The type of RP in
USH2 is, however, less aggressive and has a slower progression than the
type in AS 105, 130, 157. In USH2, the onset of RP appears in early teenage years.
The loss of peripheral vision is typically slow, and when the process
stabilizes, there is a remaining central visual field of approximately 10
degrees 130. Individuals with USH2 do not have vestibular deficits or balance
problems, deficits that are frequent in AS. No behavior patterns such as
repetitive behavior have been reported within this population.
1.4. Theory-of-mind
The structure of the human brain reflects the demands of living in bonded
social groups; development of ToM is indispensable to our species 49. ToM
refers to specific emotional and cognitive skills molding a capacity to impute
mental states to one’s self and to others 55, 146, 160, 178. ToM is described as an
innate biological ability that is activated and developed during interactions
with the social environment 16, 61, 82, 160.
Difficulties in ToM have been observed in individuals with Autism
Spectrum Disorders (ASD) 16, 41, 129. Other syndromal populations with
atypical development such as individuals with Down´s syndrome 187, Fragile
X syndrome 21, 39, Williams syndrome 164, 167, and CHARGE–syndrome 73
display lower scores on ToM tests, which might indicate a biological
explanation model. Explanations of deviances, however, cover biological,
psychological and social levels 83.
An interplay between biological, psychological and social factors of
importance in ToM development are inferred because both innate capacities
to relate and social experience are required to develop knowledge about
feelings and thoughts of other humans 86.
HANS-ERIK FRÖLANDER Deafblindness – Theory-of-mind in Alström syndrome
13
In contrast to theories underlining that ToM is innate, modularity
theories suggest that ToM consists of serial modules triggered by the
experience of social interplay 160. The formation of early social relationships
is indispensable for further development of ToM 62, 81, and variance in family
patterns in particular contributes to differences 40. The importance of the
establishment of an early parent-child relationship to develop ToM has been
stressed 62. In particular, parental talk about desires promotes children’s talk
about thinking, with an effect on ToM development 168.
During the first years of life, development of an implicit ToM is already
performed, referring to a social-perceptual ability to attribute thoughts and
feelings to behavior and action 20, 167. Attention to other human’s faces and
to their gestures and motions empowers development of an ability to predict
events and to understand what another person will do next 68, 74, 122, 153. Such
an implicit understanding of behavior supports ToM development (e.g., 162).
Imitation, shared attention and empathy are fundamental social skills 99,
further required for the development of an ability to reason about mental
states 184.
An ability to understand that other humans might hold a false belief is
an explicit social-cognitive form of ToM, indispensable in the development
of a more advanced ability to understand the thoughts and feelings of others
178
. This ability has largely been tested by the use of the false belief test 28
and might be an indication of the understanding of mental states as a
representation. Such an understanding is typically developed throughout
preschool years around the age of four 178. An exclusive focus on false belief
understanding has, however, lately been displaced by a broader perspective
on the ability to impute mental states, affirming that development is
triggered by the richness of the social environment 59, 61, 160. A noticeable
account of ToM development is stimulation theory. According to this
theory, ToM depends on self-awareness and the capacity to imagine and
pretend. That capacity is developed in the same timespan as false belief
understanding 51, 52. Pretend play that involves a taking of different roles is
reinforced by interplay with other children 96. Around the age of seven, an
insight that another person understands something about someone or
something else is developed 14. Such an ability is of importance to
understand another individual´s reactions to a situation and the other
individual´s reactions to the child´s actions 14, 17.
Advanced ToM is one aspect of ToM that develops later in childhood
and refers to the understanding of social deceptions (e.g., white lies and
bluffs). Advanced ToM requires an ability to make context-appropriate
14
HANS-ERIK FRÖLANDER Deafblindness – Theory-of-mind in Alström syndrome
mental state references. Individuals with high functioning forms of autism
do not display such complex mentalization ability 16, 41, 72 and have problems
with understanding indirect requests, sarcasm, jokes and metaphorical
expressions. Advanced ToM is especially dependent on cultural stimulation
and verbal understanding 26 but also requires focused attention and
cognitive effort 63.
1.5. Cognitive functioning
Cognitive functions such as executive functions (EFs) and working
memory (WM) are important for communication and for the development
of ToM 45, 80, 84, 156, 188. No previous research on individuals with AS has
explicitly examined cognitive functioning, verbal ability and communicative
skills, despite frequent clinical observations of possible deficiencies in these
aspects.
1.5.1. Verbal ability
Language processing is a complex cognitive activity 12 involving a
retrieval of language representations from long-term memory (LTM).
Limitations in access to language and communication due to sensory loss in
the first two years of life might cause a delayed development of language 67,
87, 100, 155
.
Language entails several different skills such as lexical skills (e.g.,
expressive and receptive vocabulary), syntax (e.g., grammatical
understanding and use) 9 and pragmatics (the use of language) 89, 161.
The development of spoken language is, among other things, dependent
upon phonological skills such as the awareness of and sensitivity to the
sound structure of language 4, 13, 131, 159. Verbal ability develops as the
efficiency to retrieve and to use language representations in the semantic
LTM develops 4, 131. Lexical skills also entail information access and
processing of phonological representations 113. The pragmatic abilities of
initiating, maintaining and terminating interaction are just as important as
verbal lexical and syntactic abilities and thus are incorporated in a broad
definition of language 97.
In the present thesis, the focus will be on aspects of verbal ability such as
access and retrieval of semantic information and phonological
representations in LTM.
HANS-ERIK FRÖLANDER Deafblindness – Theory-of-mind in Alström syndrome
15
1.5.2. Executive functions
EFs refer to top-down mental processes that promote concentration and
the ability to focus attention 32, 47, 54. Top-down processes enable elaboration
of ideas, planning of actions and assigning of options to handle
unanticipated challenges. EFs are further of use in resisting temptations or
acting impulsively. In addition, EFs enhance cognitive flexibility 32, 54. There
are three core aspects of EFs 47. One is to shift attention between different
multiple tasks, operations or mental sets. A second aspect of EF refers to
the updating of new incoming information in WM, at the same time
replacing old irrelevant information. Inhibition or ignorance of irrelevant
information and the suppression of prepotent responses is a third aspect of
EFs 93, 118. Behavioral control is another aspect of inhibition that refers to an
ability to resist temptations and to avoid reacting impulsively. Poorer
inhibitory control is associated with atypical behavior 46 such as difficulties
with regulating emotions 36 and repetitive mannerisms 119.
EF is important for most communicative activities in disabled and
nondisabled populations 23, 79, 185. The ability to understand speech in
challenging conditions is dependent upon cognitive skills such as EFs 117, 151,
155
. EF is also related to verbal ability in nondisabled populations 33. EF is
to some extent also related to verbal ability in individuals with ASD 88. No
previous research has focused on the specific contributions of EFs in the
development of ToM in AS.
1.5.3. Working memory
WM refers to the capacity to hold and process information over a short
period of time 11. The WM system includes four different components. The
central executive is thought to be responsible for planning, coordination
and execution of cognitive tasks in which WM is one involved component.
The central executive is also proposed to have some storage capacity. The
phonological store (PhoWM) holds auditory or auditory-related
information active for a short period. The visuospatial store serves a similar
role for visual and spatial information (see, Baddeley, 2012, for an
overview). The episodic buffer is proposed to bind old information (stored
in LTM) with new, incoming information 148. WM develops over time and
is fully developed by approximately 20 years of age 2. WM capacity (WMC)
is predictive for a large number of cognitive activities including language
comprehension 44, 141, 151, 186 and speech communication in a challenging
listening situation due to hearing loss 163 and/or the presence of noise 44, 108, 186.
16
HANS-ERIK FRÖLANDER Deafblindness – Theory-of-mind in Alström syndrome
The storage of phonological representations mediates the establishment
of this specific representation in the LTM 6. Learning of new words is hence
dependent upon PhoWM, and restrictions might be a reason for language
deficits in, e.g., children with specific language impairment (SLI) 5. Specific
problems in PhoWM have also been demonstrated in children with
Attention Deficit/Hyperactivity Disorder (ADHD) 147. In addition, children
with profound deafness and CI have poorer PhoWM capacity than agematched hearing children 101, 125, 174. PhoWM within a group of deaf children
with CI was found to be related to development of vocabulary 143, 180 and to
development of grammar 58. A preference for oral communication in deaf
children with CI was related to higher performance levels in the PhoWM
span 142.
1.6. Social network
Social networks refer to the web of social relationships. Network data
are defined by interlocutors and relationships within naturally occurring
social clusters 70. Both quantitative descriptions such as number of
relationships and qualitative data (e.g., quality of relationships) can be
included. An egocentric perspective is often applied, with a specific
individual in focus and related individuals grouped due to their specific role
or function 170. One important function of a network is distribution of social
capital (i.e., resources characterized by norms of reciprocity and social trust)
57
. Robust social networks positively affect health, employment and social
inclusion 149. House (1981) defined different functions of the social network
as provision of emotional support, services that assist needs, advice to
addressed problems and information that is useful for self-evaluation. The
social network can also be described by its structural features in terms of
reciprocity or emotional closeness. The extent to which relationships exist
in the context of organizational roles and whether equal powers are exerted
are other important features of the network. Other aspects of importance
are whether members of the network are demographically similar and
whether they live in close proximity to the focal person 77.
Social support is transferred through the social network. In previous
research on caretaking and support, the family constituted a primary focus.
Peer relationships have also attracted interest in a supportive perspective 50.
Bronfenbrenner argued for the importance of a larger social context to
promote children`s development 29, 30. Supportive functions of the network
have also been studied in relation to disability. A social network focus can
HANS-ERIK FRÖLANDER Deafblindness – Theory-of-mind in Alström syndrome
17
enhance intervention planning for individuals with complex communication
needs and for their communication partners. Individuals lacking
opportunities to establish such ties might develop isolation. The risk of
isolation is further increased in individuals with disability, despite an
inclusive policy 24. Individuals with augmentative and alternative
communication specifically face barriers 112, 165. This statement also applies
to individuals with visual loss 110. Social exclusion has also been reported in
relation to individuals with acquired deafblindness 75.
1.7. ToM in relation to sensory capacity, cognition and social
factors
Deafness and blindness might have a negative effect on communication
and development of language (cf. 101, 102, 140 ). Early hearing loss for children
in normal hearing families and early visual loss might lead to impoverished
social interaction and might cause a delay in the development of ToM 134,
166
.
Clinical observations of adult individuals with AS reveal a frequent
presence of difficulty in understanding mental states103. It is, thus,
reasonable to assume that a dual sensory loss will have an effect on the
development of ToM 85. Previous studies of individuals with hearing or
visual loss underline that conscious mental processes might be required to
gain sufficient information from the social environment, which is one
prerequisite for the development of ToM 34, 35, 92, 121, 145. AS is a unique
condition that might highlight cognitive mechanisms of importance for the
development of ToM 133, 156, 177. Closeness to family members has proved to
be important for the development of ToM 62, 94, 95, 168, as has range of social
acquaintances 65, 132. Anecdotal data indicate a widespread loneliness that is
not generally displayed in individuals with hearing loss or visual loss that
could have an effect on the development of ToM. To facilitate the
development of ToM in individuals with AS, it is necessary to consider
biological aspects and both psychological and social components in the
development of ToM.
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HANS-ERIK FRÖLANDER Deafblindness – Theory-of-mind in Alström syndrome
2. METHODS
2.1. Methodological challenges
AS constitutes a small population, with an incidence of less than one per
million, spread over a large geographical area105, which complicates any
attempt to recruit research persons. Deafblindness restricts the number of
research questions that can be posed. A small sample further declines the
power of the statistical analyses. The population of AS is also very
heterogeneous with respect to number of medical conditions. Onset of
visual loss and hearing loss varies within the population. Type of
educational setting and access to technical aids and healthcare support
varies both within and between countries 106. To be able to include data
beyond a single-case study level, it was necessary to collect data from
outside Sweden. Thus, English-speaking individuals with AS, primarily
from the US, participated in the studies. The tests used were all well
established and have previously been frequently used in research. The tests
were chosen to allow for comparisons of empirical patterns with other
populations. The deafblindness also restricted the type of tests that could be
used. That is, the tasks in the tests should be possible to perceive and
understand with respect to the degree of participants’ dual sensory loss.
Tests based on visual presentations were excluded for individuals with AS.
The data were collected in a short period at two family and research
conferences (2010 and 2013). At a similar event (2013), adults with USH
were tested in Sweden. The small size of the AS population also makes
participants in specific aspects easy to identify, a limitation that also restricts
possibilities to present and publish results (e.g., about individual etiology,
symptoms and personal traits).
In the empirical part, we divided the AS participants into subgroups
based on a median-split, enabling more specific comparisons with the
control group. Analysis on a subgroup level might highlight important
mechanisms.
The genetic background of AS, the physiological dysfunctions, the
diseases caused by the ALMS gene, and the connected disabilities have been
studied in previous studies. Thus, the physical phenotype is fairly well
described, whereas the mental phenotype is only anecdotally described.
Behavioral traits such as difficulties to understand mental states, repetitive
or stereotyped patterns of behavior and other neurological findings also
have been reported at an anecdotal level105.
HANS-ERIK FRÖLANDER Deafblindness – Theory-of-mind in Alström syndrome
19
2.2. General aims
The general aims of this thesis were to explore and examine ToM in
young adult individuals with AS and to examine whether and how ToM
performance was related to sensory loss, to some cognitive skills and to the
characteristics of the individuals’ social networks.
Specific aims in studies I-III were designed to examine ToM in individuals
with AS, examine how ToM related to cognitive performance and to
compare performance levels with populations of nondisabled individuals
and individuals with USH. Study IV was designed to describe the size and
content of individuals´ social networks and whether these characteristics
were related to ToM, cognitive skills and the degree of deafblindness.
20
HANS-ERIK FRÖLANDER Deafblindness – Theory-of-mind in Alström syndrome
2.3. Participants
Study I included twelve adolescents and young adults with AS (six
females) 16–37 years with a mean age of 27 years. A control group of 24
nondisabled individuals (12 females) was matched with respect to age and
educational level. An initial analysis revealed a high degree of variability in
ToM performance; to examine how ToM might relate to cognitive factors
and factors connected to the disability, the AS group was divided into two
groups by a median split based on their ToM performance.
Study II included the same 12 individuals (six females) with AS who took
part in the first study and 13 individuals with USH2 (four females) 21–60
years with a mean age of 39 years. In addition, 33 nondisabled individuals
were recruited of whom 24 individuals matched the AS group with
respect to gender, age and educational level, and 10 individuals
matched the USH group with respect to gender, age and educational level.
Study III included ten young individuals with AS (six females) 19–38
years with a mean age of 28 years. Seven of those took part in the first study.
A control group of 20 nondisabled individuals was included, matched for
gender, age and educational level. Similar to the first study, the participants
in the AS group were divided by a median-split based on their ToM
performance.
Study IV included the same ten young individuals with AS (six females)
who participated in the third study. A reference group of 42 age-matched
nondisabled individuals from the Maastricht Social Network Analysis
(MSNa) 10 was included to enable a comparison between nondisabled
individuals and individuals with AS concerning quantitative aspects of the
network. In addition, the same age and gender-matched ToM-tested
nondisabled individuals from study III participated, chosen as a comparison
to the group of AS individuals with better and poorer ToM performance.
HANS-ERIK FRÖLANDER Deafblindness – Theory-of-mind in Alström syndrome
21
Table 1. People with AS and USH included in the present thesis
2.4. Assessments
2.4.1. Hearing
Hearing impairment (HI) was assessed by pure tone audiometry, with a
calculation of the average pure tone threshold for the best ear at frequencies
of 0.5, 1.2, and 4 KHz (PTA4). The hearing tests used were either performed
in standardized settings within 6 months and/or by audiometry performed
at the time of testing. When audiometry was performed at the time of
testing, an audiometer with earphones (Kuduawe Ltd) was used. The WHO
grading of HI was used: 1 = mild, (PTA4 26-40 dBHL); 2 = moderate PTA4
(41–60 dBHL); 3 = severe, (61–80 dBHL), and 4 = profound, PTA4 (> 81
dBHL). In this thesis, the degree of hearing impairment was reported either
by the use of the WHO scale 181 or by the presentation of PTA4 values. All
participants during the ToM and cognitive tests were fitted with bilateral
hearing aids.
22
HANS-ERIK FRÖLANDER Deafblindness – Theory-of-mind in Alström syndrome
2.4.2. Visual acuity
Visual acuity (VA) of the best eye was measured using Snellen chartbased standard tests (0,0-1,0) in which normal visual acuity was denoted to
be >0,8 69.
2.4.3. Visual field
Visual field (VF) was measured by Goldmann perimetry, with
categorization into five phenotypes: 1 = normal; 2 = presence of a partial or
complete ring scotoma, the latter either extending or not extending into the
periphery; 3 = concentric central field loss with a remaining peripheral
island less than one-half of the field circumference; 4 = marked concentric
loss (a visual field of less than 10 degrees); and 5 = no visual field, i.e.,
blindness 69.
2.4.4. Degree of deafblindness
In study I, we used a hearing impairment categorization according to the
WHO recommendations, in which we used categories from mild to
profound impairment 181. The scores of HI and visual impairment (visual
acuity) in the first study were added to achieve a combined degree of
deafblindness 43. Age of onset of sensory loss was obtained from the Alström
International Questionnaire 8.
2.4.5. Vestibular functions
Data about vestibular functioning were retrieved from medical records,
built on, e.g., bithermal-caloric tests, rotary tests, computerized dynamic
posturography or Romberg’s tests. The vestibular function was categorized
into normal function, hypofunction and vestibular areflexia 183.
2.4.6. Motor development, language, thinking and social behavior
ASI developed the questionnaire, “Alström syndrome questionnaire” 8,
to be completed by a parent or another close associate together with the
individual with AS. The questions were estimated to take about an hour to
answer. The questionnaire included questions concerning social status,
employment, education and schooling situations. The questionnaire also
inquired whether health problems were generally observed in AS. If the
answer was yes, a follow-up question inquired at what age AS was
diagnosed.
Information about motor development, language, thinking and social
behavior as a child under the age of ten and as an adolescent or adult (age
HANS-ERIK FRÖLANDER Deafblindness – Theory-of-mind in Alström syndrome
23
11–adult) were further obtained from responses in the questionnaire. The
responses were categorized into five levels. The medical history was well
documented, also focusing on functional aspects and developmental issues
(Marshall and Möller 2014, Personal communication) 105, 106.
2.4.7. Theory-of-mind
Advanced ToM was measured by a set of eight social stories from
Happé’s advanced test of ToM—the strange stories72, including examples
of double bluff, persuasion, white lies and misunderstanding. In addition,
eight matched physical control stories requiring a general reasoning ability
were administered and scored on the basis of why an action had been
performed. Eight unconnected sentences assessing an ability to recall were
also administered. This shorter form of Happe´s test of advanced ToM has
previously been used in functional imaging studies and neuropsychological
studies 15, 60, 71, 72, 82, 179. The test took approximately 45 minutes to conduct.
2.4.8. Verbal ability
Verbal ability was assessed with tests of vocabulary. The AS group and
the matched nondisabled control group were tested on the vocabulary
subtest in the Wechsler Adult Intelligence Scale 175. Participants were asked
to tell the meaning of words. Responses were matched to the general scoring
principles and the sample responses to each item. The USH2 group and their
matched nondisabled control group were tested on the Antonym Test, in
which the participants were asked to identify the pair of antonyms among
five visually displayed words 100, 158. Each of the vocabulary tests took 15–
20 minutes to conduct.
2.4.9. Executive Functions
The EFs of updating and inhibition were measured using a shortened
version of the Cognitive Spare Capacity Test (CSCT)116. Participants were
asked to repeat a number of two-digit numbers. After each list, participants
were asked to report particular list items depending on the condition. In the
updating condition, participants were asked to report the first list item and
the two highest numbers in the list. In the inhibition condition, participants
were asked to report the two odd value items by a particular speaker. The
EF test took approximately 15 minutes to conduct.
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HANS-ERIK FRÖLANDER Deafblindness – Theory-of-mind in Alström syndrome
2.4.10. Working memory
General WMC was measured by a reading span test 44. Short three-word
sentences were presented. After the presentation of each sentence, the
individuals were asked to judge whether the sentence was absurd. After a
series of sentences had been presented, the individuals were asked to
randomly recall the first or the last word in every sentence. PhoWM was
assessed using serial recall of non-word series with increasing lengths 66.
Participants were asked to repeat each of the non-words after each series.
Each of the WM tests took approximately 10 minutes to conduct.
2.4.11. Social network
Structured interviews were conducted with the Maastricht Social
Network Analysis (mSNA) 10 to measure the size of each participant’s social
network. The reference group of nondisabled individuals was used to
compare the size of the social network, listed as family members and
acquaintances or as professionals/semiprofessionals. The Social Network
Inventory (SNI), a sociometric method developed for small group studies,
was used in addition to conduct structured interviews in which participants
were asked to mention significant others in different environments 170. This
inventory was used in addition because, aside from quantitative
measurements, it also allowed qualitative measurements as estimations of
the closeness to other individuals. The structured interviews took
approximately 30 minutes to conduct.
2.5. Analysis
The designs of the studies were quasi-experimental, with an exploratory
and descriptive focus. Individuals with deafblindness were matched to
nondisabled individuals on background variables such as age, gender and
educational level. To examine within-group differences and conduct specific
comparisons with the nondisabled individuals, the population of AS and
USH2 was divided into two groups by a median-split based on their
performance on the strange stories test of ToM. Thus, the results were
analyzed at three different levels, with comparisons at a group level,
subgroup level and case-study level.
In study I, multivariate analyses of variance (MANOVA) and post hoc ttests with Bonferroni correction were conducted to show group differences.
Analyses were performed via a median-split of individuals with AS into a
better and a poorer ToM performing group. This sub-division enabled a
HANS-ERIK FRÖLANDER Deafblindness – Theory-of-mind in Alström syndrome
25
description of characteristics of better versus poorer ToM performance with
respect to WMC and verbal ability.
In study 2, a non-parametric Kruskal Wallis test was used to analyze
differences between the two groups of deafblindness (AS and USH2)
because the data were not normally distributed. Follow-up analyses of
between-group differences were performed via a Mann-Whitney U test. The
level of significance was adjusted, with the Bonferroni correction for
multiple comparisons set to p < 0.0167. Analyses were also performed on
two subgroups (regardless of syndrome), defined by their ToM
performance. Individuals with deafblindness producing correct mental
inferences within 1 SD of the mean of the control group (n=12) were
compared with those whose production of correct mental inferences was
below 1 SD below the mean of the control group (n=13).
In study 3, independent t-tests were performed to examine differences
between the AS group and the nondisabled control group. Non-parametric
Mann-Whitney tests were used to examine differences between both AS subgroups and between sub-groups and the nondisabled control group. The
subgroup of AS individuals producing correct mental references within 1
SD of the mean of the control group was compared with the control group.
This comparison was done to determine whether the performance in this
better ToM-performing subgroup in other domains also resembled that of
the control group. The reminder of the group of individuals with AS was
also compared with the control group to determine whether and how their
performance differed in other domains (i.e., with respect to verbal and
cognitive performance).
In study 4, one-way ANOVAs were used to examine differences between
the AS group and the nondisabled control group. The AS group was divided
into a better ToM-performing group and a poorer ToM-performing group.
The better ToM-performing group consisted of AS individuals with a ToM
performance within 1 SD of the mean of the nondisabled control group
(n=3). The poorer ToM performing group consisted of AS individuals with
a ToM performance poorer than 1 SD below the nondisabled control group
mean (n=7). Both AS subgroups were specifically compared with the
nondisabled group. Non-parametric Kruskal-Wallis tests were computed to
examine differences between both AS subgroups or between the subgroups
and the nondisabled group.
Spearman´s rho (non-parametric correlation) was also used in all four
studies to evaluate interaction. The level of significance used was p<0.05 in
all of the statistical analyses.
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HANS-ERIK FRÖLANDER Deafblindness – Theory-of-mind in Alström syndrome
2.5.1. Ethical approval and considerations
The guidelines of the WMA Declarations of Helsinki, Ethical principles
for medical research involving humans have been considered 182. The studies
were approved by the regional ethics review Board of Uppsala – Örebro,
Sweden and the Institutional Board of the Jackson Laboratory, USA. Signed
informed consent was obtained from all participants. All participants were
informed that participation in the study was confidential and voluntary.
Analyses conducted in the studies at the subgroup level were connected to
ethical issues and a need to protect the integrity of the participants.
Demographic data were presented at a group level for the same reason.
HANS-ERIK FRÖLANDER Deafblindness – Theory-of-mind in Alström syndrome
27
3. SUMMARY OF THE STUDIES
Study I
Title: Theory-of-mind in adolescents and young adults with Alström
syndrome.
The aim was to examine clinical observations revealing a higher
frequency of deviations than a typical trend of development of ToM in AS.
Possible factors contributing to ToM development such as verbal ability,
WMC and onset and degree of sensory loss were assessed in relation to ToM
performance.
The results demonstrated that individuals with AS performed at
significantly lower levels in ToM tasks and displayed a higher degree of
variability in performance than did the nondisabled control group.
Individuals with AS and a relatively poor level of ToM performance
produced fewer correct mental state inferences than did individuals with AS
with relatively higher performance levels. AS individuals with relatively high
performance levels made as many correct inferences in ToM tasks as the
control group did, but their inferences often displayed a lower degree of
exactitude (i.e., an incompleteness). Verbal ability and educational level but
not WMC was correlated with ToM performance. Degree of deafblindness
did not relate to ToM, but the time of onset of visual loss in contrast to
hearing loss was correlated with ToM. The results were discussed with
respect to how factors related to deafblindness and cognitive skills affected
ToM.
Study II
Title: Theory-of-mind and cognitive function in adults with Usher or
Alström syndrome.
The aim of this study was to investigate whether differences in visual loss
and hearing loss had an effect on ToM. ToM was examined in adults with
AS and USH2, and those adults were compared with nondisabled
individuals. In addition, the ability to understand a logical outcome of a
physical condition was examined.
The USH2 group outperformed the AS group in ToM tasks, but both the
USH2 and AS groups demonstrated poorer performance levels than did the
nondisabled group. Both groups also demonstrated poorer performance
than did the nondisabled group in the physical condition. Variability within
the AS group was related to verbal ability, and within the USH group,
variability was related to WMC. Visual status, and to a minor extent level
of hearing loss, was found to be related to ToM performance. The
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HANS-ERIK FRÖLANDER Deafblindness – Theory-of-mind in Alström syndrome
prevalence of the additional physical diseases was not related to poorer
ToM performance. The consequences of limited access to sensory
information due to deafblindness were discussed with respect to both ToM
and outcomes related to everyday situations.
Study III
Title: Theory-of-mind in individuals with Alström syndrome is related to
executive functions, and verbal ability.
The aim of this study was to explore whether cognitive skills such as EFs
and phoWM can account for differences in ToM performance in individuals
with AS.
The AS group performed at a significantly lower level than did the control
group in both the ToM task and the EF tasks. A significant correlation was
observed between recall of non-words and EFs 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
was related to language perseverance and to motor mannerisms
independent of vestibular functioning. The AS group displayed a delayed
ToM and reduced phonological WM, EF and verbal ability. The
compensatory role of EFs to perceive and process information from the
social environment when the interaction is challenged by deafblindness was
discussed and related to ToM.
Study IV
Title: Theory-of-mind in young adults with Alström syndrome is affected
by social relationships.
The aim of this study was to describe and examine the social networks
of young adult individuals with AS and to examine quantitative network
features (e.g., size) and qualitative features (e.g., closeness) related to ToM
performance.
AS individuals with poorer ToM reported fewer friends than did AS
individuals with better ToM, but both groups reported an equal amount of
significant others. Proximity to others did not correlate with ToM.
Reported frequency of pretend play in childhood correlated with both ToM
performance and the ability to establish appropriate social relationships.
Reported solitude in childhood related to inappropriate social responses
and a poorer ToM in adulthood that in turn was connected to reported
difficulties in focusing attention on others and understanding their
thoughts. Individuals with AS displayed a reduced network of
acquaintances relative to a nondisabled reference group. A large part of the
HANS-ERIK FRÖLANDER Deafblindness – Theory-of-mind in Alström syndrome
29
network of acquaintances consisted of professionals within the health care
system and educational settings or semiprofessionals within disability
organizations. Animals, primarily guide dogs, were also included in the
social network. The role of deafblindness, childhood interaction and
establishment of friendship in the development of advanced ToM were
discussed.
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HANS-ERIK FRÖLANDER Deafblindness – Theory-of-mind in Alström syndrome
4. DISCUSSION
The purpose of this thesis was to explore and examine ToM in young
adults with AS and to examine whether and how ToM performance is
related to some cognitive skills and to features of the social network.
The observations reported by families and professionals concerning
difficulties for some individuals with AS in understanding the mental states
of others were largely verified. We also observed that some of the
individuals with AS reached performance levels in ToM tasks comparable
to nondisabled individuals, although displaying a somewhat poorer rate of
extended answers. Extended answers require an ability to completely
understand and extensively refer to mental states72, an ability that was
seldom displayed among individuals with AS, even among those with higher
ToM scores. AS individuals with a relatively poorer ToM referred to
thoughts, feelings and desires less frequently to analyze the content of
socially loaded stories. The less appropriate physical references associated
with consequences (e.g., to obtain something) were instead more frequently
used. This pattern of responses is also expressed frequently in individuals
with high-functioning autism72, 82. The AS group differed from the
nondisabled control group in both the mental and the physical conditions.
The generally poor performance in the physical condition and lack of
difference between individuals with higher and lower ToM performance in
this respect might have been caused by a shared lack of sensory experience
related to the dual sensory loss rather than to difficulties in reasoning. AS
has not previously been reported as related to specific learning disabilities
or intellectual disability (ID)105. General difficulties in reasoning would also
have restricted participants’ ability to understand the thoughts of others at
a more advanced level 72, 144, 187 and are not compatible with the observation
of ToM variance in the group of individuals with AS. The AS group was
outperformed by the nondisabled control group in the EF and WM tasks
and in verbal ability. ToM was predicted by EF and verbal ability but not
by WM. Taken together, this performance indicates an interaction between
ToM performance and cognitive and verbal abilities in the AS group. An
interaction between ToM and verbal ability was not established in the USH
group, indicating that a majority of the individuals in this group had
sufficient verbal ability for reasoning in the mental condition. However, that
complex WMC, which is important for development of language
comprehension 44, 141, 151, 186, related to ToM in the USH group emphasizes
HANS-ERIK FRÖLANDER Deafblindness – Theory-of-mind in Alström syndrome
31
the importance of cognitive skills in communication challenged by loss of
hearing and vision.
4.1. Sensory loss and ToM
Our expectations based on previous studies on ToM in populations with
either severe to profound hearing loss or severe visual loss to blindness115,
135, 166
were that individuals with AS would perform at a lower level on tests
of advanced ToM than would nondisabled individuals. It was also expected
that a less severe form of dual sensory loss, such as was displayed in the
USH group, might be associated with a better ToM performance. These
assumptions were largely verified. The ability to produce extended correct
mental references was relatively poor in a significant number of individuals
with AS and USH2. The majority of the individuals with USH2 did,
however, display performance levels on ToM tasks comparable to
nondisabled individuals, whereas a majority of the individuals with AS
displayed a lower performance level. Degree of deafblindness did, however,
not predict ToM variance in the AS group. The reason may be a relative
within-group homogeneity in grade of sensory loss. The impact of sensory
loss, in this group, was yet verified by the fact that an early age at which the
first sign of visual impairment occurred related to a higher frequency of
incorrect mental references. When the two groups with deafblindness were
compared with the nondisabled control group using a stricter scoring
criterion of the number of extended correct mental references, no significant
difference between them emerged, thus also indicating possible
consequences for ToM in milder forms of deafblindness.
4.2. Hearing loss, speech perception and ToM
A severe hearing loss is not fully compensated for by the use of hearing
devices 7, 126, 166, which might cause a delay in the development in ToM 136
because the individual lacks full access to spoken language. An effect on
ToM development was expected in individuals with AS due to the
progressive loss of hearing 104. However, neither degree nor the age of onset
of hearing loss was related to ToM, possibly because the progress of hearing
loss is relatively slow in AS. That slow progression provides some access to
the hearing world and does not affect mental state understanding during the
phase of early social interplay when implicit forms of ToM are formed and
developed. The relatively slow progression of loss permits social interaction
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HANS-ERIK FRÖLANDER Deafblindness – Theory-of-mind in Alström syndrome
and observation of others of importance to implicit development of ToM 40,
62, 81, 162
. The consequences of hearing loss during one of the most sensitive
periods for the development of ToM (around the age of four) 176 seems,
despite frequent use of hearing aids to be more pronounced. At this age, the
ability to understand that another person’s beliefs are based on knowledge
and that mental states can differ from actuality is established 177. The
relatively small differences between the high performing AS group and the
USH2 group can be partly explained by the fact that individuals with USH2
have a moderate to severe HI at young ages, with permanent use of hearing
aids.
The AS group was outperformed in the physical control stories by the
nondisabled group. One reason for this outcome could be a less developed
verbal ability than in an age-matched nondisabled control group. Severe
hearing loss also affects daily life functioning negatively by restricting
participation in social settings and might constitute one reason for lower
performance levels in the physical control stories. Support for this
assumption comes from a study of individuals with USH2 and USH1, in
which individuals in the latter group who were congenitally deaf needed
more overall support in daily life 42. This study highlights the consequences
of hearing loss in everyday activities when vision is also poor. In the AS
group, a mild hearing loss might actually be functionally “severe” without
the ability to lip-read due to severe visual loss early in life.
4.3. ToM, visual loss and social interplay
The onsets of VI and ToM were related to one another in the AS group.
The visual mode is important for early, general mental development1, 19.
Children with AS encounter severe visual challenges early in life, and the
sensory prerequisites for participation in social interplay are already
negatively affected at this stage 104, 106. Thus`, a lack of visual experience
from communicative and social stimuli might be one reason for the
relationship between age of onsets of VI and ToM. Poor ToM might be
caused by lack of a possibility to make judgments concerning other
individuals´ mental states from their facial expressions18, 63. This type of
judgment is important in early communication to establish implicit forms
of ToM 20, 62, 167. This form of judgment also recruits other neural circuitries
than explicit ToM and is not related to verbal ability 20. However, it might
nonetheless constitute a platform for later development of advanced ToM
26
.
HANS-ERIK FRÖLANDER Deafblindness – Theory-of-mind in Alström syndrome
33
The rapid visual dystrophy in AS might also be a part of the explanation
for the difference in ToM between the AS group and the USH2 group.
Development of ToM in USH2 is not affected because early RP has a
pubertal onset in individuals with USH2. They have central vision in
adulthood, although the visual field for smaller objects decreases 102. The
cone dysfunction in AS leads to an early loss of vision in the 2nd decade 171,
173
. Thus, ToM development in USH2 is far less affected by visual loss in
childhood and adolescence than in AS.
4.4. ToM, EF, WM, verbal ability and communication
Verbal ability is important for development of advanced ToM 26. The
demands on EF and WM 63 might be further increased by the challenge of
processing information with a dual sensory loss 43, requiring focused
attention and cognitive efforts 63. In the present study, verbal ability and EF
proved to be directly related to ToM, whereas WM displayed a more
indirect role via the relationship with EF. The indirect relationship with
WM might be an indication that a certain level of WMC is necessary to
develop ToM but might not, beyond a critical level, lead to further
improvement in ToM 161.
Previous research has shown that the capacity to inhibit irrelevant
information is important to initiate and sustain communication and might
facilitate the development of mental references. This relationship has been
previously demonstrated in populations with ASD 109, 128, 185 and was found
in individuals with AS in the present thesis.
The ability to update WM with incoming information and compare it
with stored information in LTM correlated with verbal ability in the AS
group. This relationship might suggest a mediating role for updating ability
in vocabulary development, in turn promoting ToM.
Early language delay is frequently observed in individuals with AS. Odd
rhythm of speech has also been reported in AS. The finding that inhibition
of attention in general is related to inhibition of action64 supports the notion
that both attentional difficulties and motor control difficulties (i.e. odd
rhythm of speech) in AS, might be specifically related to poor inhibitory
capacity. Such difficulties may have negative secondary consequences for
verbal ability and then also for ToM development.
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HANS-ERIK FRÖLANDER Deafblindness – Theory-of-mind in Alström syndrome
4.5. Biology and cognitive functions
Restrictions in inhibitory capacity have been established in a number of
individuals with AS and might have contributed to the observed motormannerisms in AS that could not be explained by vestibular dysfunction,
and the observed behavioral patterns 104. This assumption is supported by
the fact that biological influence on specifically behavioral inhibition has
been reported 107. AS is a genetic disorder with one gene detected thus far.
The gene is very large, and many individuals have unique variations
(mutations), which most likely explains the large heterogeneity in organ
dysfunctions. The ALMS1 gene belongs to a group of ciliopathies 106 in
which neurocognitive impairments are frequently displayed 90. One example
is the closely related syndrome LMBB 53, 78. Because the mutations causing
AS are actively expressed in most organs, cerebellar anomalies have also
been observed in individuals with AS. However, these findings are not
consistent 38, but individual cerebellar anomalies might have accounted for
some of the EF deficits found in individuals with AS.
4.6. Social interaction and development of ToM
The reported problems in the AS group in understanding other
individuals´ thoughts and interpreting their intentions correlated with a
poorer ToM. ToM also correlated with reported frequency of pretend play
in childhood. This correlation has previously been reported in various
studies of nondisabled children 91, 96 and stresses the importance of EFs to
developing communicative skills. Such skills support interaction with other
children and stimulate pretend play 51, 52, in turn enhancing ToM
development. The need of efficient EFs to communicate is increased by the
challenge of sensory loss 43. A reported preference in the AS group for
solitary activities and a failure to develop peer relationships in childhood
was accordingly related to relatively less pretend play and poorer ToM
performance. Social isolation among deaf children is also related to poor
ToM for similar reasons 139. Because blind children have been reported to
spend more time exploring the environment than engaging in pretend play,
the development of ToM in this population for similar reasons might be
delayed 56. Verbal delay is frequent in AS and related to loss of hearing 104,
thus possibly affecting the development of pretend play in children with AS.
A fast progression of visual loss early in life in AS was related to a poorer
ToM capacity in adulthood, which might in turn be related to the significant
HANS-ERIK FRÖLANDER Deafblindness – Theory-of-mind in Alström syndrome
35
loss in one critical period for development of ToM around the age of four
178
.
4.7. Effect of friendship on development of advanced ToM
Individuals with AS reported significantly more contacts with
professionals than age-matched nondisabled adults did, whereas the
reported sizes of the networks of family members and acquaintances were
significantly smaller. A similar pattern has been reported in other disabled
populations (ASD and ID) 172. Individuals with physical disabilities in
general display a wider social network than do individuals with
developmental disabilities 98.
No relationship was observed between performance on ToM tasks and
reported number of significant others or family-members. Additionally,
performance in tasks tapping advanced ToM was not related to self-rated
closeness to other individuals within the family, possibly because the
individuals are adolescents or young adults, and friends become more
important at this age 31. However, individuals with AS and relatively poor
ToM reported fewer friends, which replicates results of studies including
nondisabled individuals 94, 165 and deaf individuals, pointing to the
interrelation between friendship and advanced ToM 139.
Friendship is dependent upon interpersonal competence and
understanding of mental states 31, 37 but also upon social environments
allowing encounters.
Many individuals with AS identified semiprofessionals (e.g., members of
the Alström International board) or professionals, for example physicians
and teachers, as members of their informal social networks. The same
observation has been made in a group of individuals with developmental
disabilities 75. Individuals with AS often attend boarding schools, and their
health problems imply frequent contacts with the health care system 104, in
which they frequently establish social relationships. In addition, a majority
of the reported friends also belonged to ASI. Friendship relationships that
primarily addressed professionals or semiprofessionals might imply a lack
of equal relationships and a higher degree of formality, which could
negatively affect the growth of an ability to cope with social situations 76,
110
.
36
HANS-ERIK FRÖLANDER Deafblindness – Theory-of-mind in Alström syndrome
4.8. Conclusions
Early loss of vision in combination with a slower loss of hearing might in
combination affect the development of ToM. Early loss of hearing is often
associated with a delay in vocabulary development and thus with a negative
effect on the development of ToM.
Early loss of vision leads to less exposure to social activities that facilitate
development of ToM. Support of early interaction in the family and support
to enhance play activities with other children already in preschool is
important for establishment of ToM. In addition, the need for assistive
technology and optimized social environments in adolescence and
adulthood should be addressed to create possibilities for establishing and
maintaining equal social relationships.
The present studies demonstrated a lower ToM performance level in AS
compared with nondisabled individuals. Some individuals with AS could,
however, reach levels comparable to nondisabled individuals. Similar
patterns of results were observed for the cognitive and verbal tasks. A
general decrease in ToM capacity is typical for individuals with ASD 15, and
the threshold for verbal effect is markedly high 81. In the AS group, a
significant within-group variance in ToM was displayed. This variability
was highly dependent upon communicative skills, in which EFs had a
mediating role.
The cognitive skills examined in this thesis can be modified with cognitive
interventions at relatively young ages 48, 169. However, the high degree of
heterogeneity is a factor that must always be considered and adjusted to
each individual level of functioning when interventions are being planned.
Training of EF might be especially important because many individuals with
AS are reported to display behavior in everyday life that might indicate less
well functioning EFs.
4.9. Future research
The characteristics of deafblindness in AS complicate research. A main
challenge is the within-group variance, which confounds between-group
comparisons. However, the variance could also uncover patterns of
interaction.
The recognized association between ToM and EFs in AS must be further
elaborated and replicated. There might be different cognitive phenotypes
dependent upon mutation sites in the gene, which might be possible to
investigate in the future. In addition, neurological studies are required to
HANS-ERIK FRÖLANDER Deafblindness – Theory-of-mind in Alström syndrome
37
investigate the prevalence and character of specifically cerebellar anomalies
in AS. Future research should also address phonological development and
the specific role of EFs in the development of social participation in different
adult populations with acquired deafblindness. The possibilities of
supporting the social interaction between children with AS and other
children should be further investigated, with a focus on implementation of
assistive technology and methods to improve verbal ability and EFs.
38
HANS-ERIK FRÖLANDER Deafblindness – Theory-of-mind in Alström syndrome
5. Sammanfattning på Svenska/Swedish summary
I fokus för denna avhandling står Alströms syndrom (AS), som är relaterat
till en senare inträffad dövblindhet. Utöver en progredierande nedsättning
av syn och hörsel, ingår sviktande funktioner i ett antal vitala organ, vilket
påverkar prognos och överlevnad 104. Mer specifikt studeras ”Theory-ofmind”, som på svenska motsvarar ”Mentaliseringsförmåga”. Denna
förmåga avser en individuell förståelse för hur andra människor känner och
tänker 146. En sådan förmåga formas av sociala erfarenheter samt
tillägnande av språk 120, 139. En försenad utveckling av
menaliseringsförmågan kan förekomma hos barn med medfödd dövhet, om
de inte fått möjlighet att tillägna sig ett åldersadekvat teckenspråk 137.
Förseningar har också observerats hos barn med medfödda grava
synnedsättningar 134, och relaterats till svårigheter att uppfatta sociala
signaler och reaktioner från omgivningen 1. Under den förspråkliga fasen i
ett barns utveckling är ett rikligt utbyte i den sociala närmiljön avgörande
för en optimal utveckling av förmågan att avläsa känslor och intentioner 68,
74, 122, 154
. Genom språk och begrepps-utveckling, skapas sedan
förutsättningar för att i vuxen ålder på ett tillfredställande sätt kunna tolka
och förstå innebörden av sociala signaler 20. Konsekvenserna av dövblindhet
när det gäller utvecklingen av mentaliseringsförmåga hade inte tidigare
blivit belysta.
Mentaliseringsförmågan hos en grupp unga vuxna individer med AS
visade sig, relativt en åldersmatchad grupp av normalt seende och hörande
individer, vara signifikant sämre. Variationen inom AS gruppen var dock
betydande, och relaterad till skillnader i sensoriska förutsättningar. En
sämre förmåga att mentalisera sammanhängde med en relativt sett tidigare
nedsättning av synen. Variationen i mentaliseringsförmåga relaterade också
till individuella skillnader i verbal förmåga. En bättre förmåga att
mentalisera var kopplad till ett signifikant större ordförråd. Detta
implicerar att exponering för kommunikation samt möjligheterna att
utveckla verbal förmåga är av betydelse för utvecklingen av mentalisering
hos individer med AS, på samma sätt som hos individer utan
funktionsnedsättningar 152.
Vid en jämförelse med ett annat dövblindrelaterat syndrom, Usher typ 2,
med en generellt sett bättre förmåga att mentalisera, kunde synskärpa och
synfält (som vid det syndromet bibehålls i högre grad i vuxen ålder)
begripliggöra skillnaden i mentaliseringsförmåga mellan de två
dövblindrelaterade syndromen 104, 130. Att förmågan att mentalisera var
HANS-ERIK FRÖLANDER Deafblindness – Theory-of-mind in Alström syndrome
39
relaterad till verbal förmåga, lyfter fram hörselns betydelse, varvid bristande
auditiva intryck på goda grunder antas medföra en försenad
språkutveckling.
En nedsättning av både syn och hörsel har negativa konsekvenser för
möjligheten att kommunicera. Av synnerlig betydelse är då kognitiva
förmågor som de Exekutiva funktionerna, vilka understöder förmågan att
47
styra
uppmärksamheten
.
Eftersom
utvecklingen
av
mentaliseringsförmåga baseras på erfarenheter utvunna vid socialt samspel
kan förmågan att effektivt uppdatera arbetsminnet med ny information
likväl som förmågan att avleda ovidkommande intryck, tankar eller
associationer, kompensera för sensoriskt bortfall och skapa förutsättningar
för att etablera en god mentaliseringsförmåga hos individer med AS.
Mentaliseringsförmågan visade sig också tydligt kopplad till de
möjligheter till interaktion som det sociala nätverket medger. Anekdotiska
data pekade på en utbredd ensamhet bland individer med AS. Resultaten
indikerar omfattande konsekvenser av de hälso-problem som är
förknippade med syndromet. Vänskapskretsen utgjordes i hög grad av
vårdgivare samt företrädare för brukarorganisationer. Långt fler, än i andra
jämförbara grupper med unga vuxna, bodde hemma hos sina föräldrar.
Detta belyser generella svårigheter för människor med funktionhinder att
knyta sociala kontakter utanför hemmet, i miljöer som inte är tillrättalagda
76, 110
. En bättre förmåga att mentalisera visade sig vara relaterad till ett
större nätverk av vänner och bekanta. De vänskapsrelationer som etablerats
under uppväxt och tonår tycks stimulera framväxten av en mer avancerad
mentaliseringsförmåga. Av det skälet är de yttre förutsättningarna, i form
av tillgängliga och till individer med funktionshinder anpassade sociala
arenor, av stor betydelse.
Implementering av metoder för att stimulera och utveckla Exekutiva
funktioner 48, 169 hos individer med AS kan tillsammans med hörseltekniska
hjälpmedel och anpassning av sociala miljöer underlätta kommunikation.
Insatser via brukarorganisationer för att främja etablerande av sociala
relationer rekommenderas för att skapa delaktighet.
40
HANS-ERIK FRÖLANDER Deafblindness – Theory-of-mind in Alström syndrome
6. Acknowledgments
I am most grateful to all the individuals who participated in this PhD
project, and would like to direct specific thanks to the members of the Ateam within the Alström syndrome International (ASI). Thanks for taking
part and for sharing of experiences! Many thanks also to Jan D Marshall,
Heather Piacentini and all the other dedicated members of the ASI - board.
Without your support this project would not have been possible to conduct.
Thanks to my employer, the National Agency for Special Needs
Education and Schools (SPSM), allowing me a part time leave of absence. I
am very grateful to my colleagues at the center for children and adolescents
with deafblindness. Specific thanks to the team-leaders over these years;
Anna-Lena Steenson, Mårten Petersson and Mia Martini, for supporting my
journey into the notorious tower of ivory that science may constitute! As it
turned out it is not a tower after all, rather a platform for interaction
between theory and practice. Thanks to all the past and present colleagues
at the center, for sharing of knowledge and experience. Specific thanks to
Kerstin Arman! Your inspiring contributions constitute an important
foundation in this project.
I may have experience from the field of deafblindness, but in the web of
scientists I am best described as a middle-aged rookie. Without guidance
from Claes Möller and Björn Lyxell, my eminent supervisors, I would have
become lost in a true “Terra incognita”. I actually did a few times, but my
supervisors than always turned up. I begin with Claes, who I got to know
when I became a member of the Swedish Expert Team diagnosing
deafblindness. Claes, your deep knowledge about this disability combined
with an openness for interdisciplinary co-work is one of the main reasons
why I applied for a position as PhD student. Many thanks Claes for firm
support! I have been occupied over the years by the consequences of sensory
loss. Björn, thanks for introducing cognitive hearing science where some
important answers may be found. Many thanks Björn, also for being an
optimal coach! Thanks to Mats Granlund, now at Jönköping University,
who I met when I was a newly examined psychologist. Your introduction
into the topic of disability most certainly facilitated the decision of mine to
focus on disability research. Thanks also to Kerstin Möller, Stephen Widén
and Berth Danermark and all the other teachers and students that
highlighted, this perspective, during the Foundation course. My deep thanks
to the Swedish Institute of Disability Research (SIDR), and School of Health
and Medical Sciences at Örebro University. Specific thanks to the
HANS-ERIK FRÖLANDER Deafblindness – Theory-of-mind in Alström syndrome
41
administrators over the years; Marie-Louise Larsson and after her Lina
Ahlbom – you have always been ready to support!
I now address the Deafblind research group, beginning with my fellow
PhD students Moa Wahlqvist, Cecilia Henricson, Mattias Ehn and Berit
Rönnåsen; Thanks for comfort and sharing of experiences! Berit, you and I
share background from the practical field of deafblindness, and it has been
a pleasure to do this journey together! Thanks also to the senior researchers
in the group; Kerstin M and Bert mentioned before, and in addition Agneta
Anderzen-Karlsson, for sharing of knowledge. A huge thank to the
Audiological Research Center at the University Hospital of Örebro. AnnMarie Helgstedt, many thanks for your welcoming approach and all the
support you have given! Thanks to Jennie Hjaldahl, Hanna Hagsten,
Camilla Sandelius, Arvid Björndahl, Jonas Birkelöf, Tobias Åslund,
Margareta Landin and Sarah Granberg for specifically helping me with the
project. Thanks also to, Åsa Skagerstrand, Jonas Karlsson, Frida Ingham,
Parivash Ranjbar and all the others at the center for collegial exchange.
Another important environment has been Linköping University and the
Department of Behavioral Sciences and Learning. I have much enjoyed your
friendly atmosphere. Specific thanks to Mary Rudner, Björn Lidestam,
Malin Wass, Elisabet Clason, Niklas Rönnberg and Sushmit Mishra for the
sharing of knowledge, help to adapt tests and contributions to the analysis.
Thanks to Maria Hugo-Lindén and to Marie-Louise Lund-Mattsson for
coordinating. In addition thanks to Franceska Happé at the Department of
Psychiatry, the Kings College in London for sharing a short version of the
“Strange stories”- test.
Thanks to Head Graduate School for the opportunities to take part at
conferences and meetings, and to participate in workshops, of great
importance for the PhD project. Thanks to the foundation “Tysta skolan”
for a traveling grant to a conference abut hearing in a life perspective in
Como 2014. Thanks Mikael Heimann and Annet Sundqvist for your
constructive and valuable critique at the 60% seminar and the final seminar
respectively. I am very grateful! Thanks also to the National Resource
Centre; addressing Lena Göransson and all others for your valuable work
to integrate research and clinical experience of the benefit for people with
Deafblindess. Specific thanks to Lil Falkensson coordinator at the connected
team for the diagnoses of deafblindness, for help to collect data.
My warmest thanks to my dear wife Elke and my beloved children Max
and Paula. Your support and understanding have constituted a prerequisite
for the project. I have not always been available for you during these years.
42
HANS-ERIK FRÖLANDER Deafblindness – Theory-of-mind in Alström syndrome
Elke, I remember that you once asked if my brain possibly was connected
to the computer and that both were switched of when I left the work for the
day! It is true, I have even been more absent-minded than I normally am.
To my son Max and my daughter Paula: I am so proud of you both, so is
your mother. To follow you through childhood and adolescence to the
doorstep of adulthood and further on is, aside of the love for your mother,
most important in my life.
My deepest thank to my mother Karin, for wisdom, unconditional love
and convinced belief in the opportunities for my brother Lennart and me to
realize our ideas. My father Jan, in memoriam, a brilliant psychologist
without academic degree´s, for certain had an impact on my choice of
profession. I am grateful for that. To my brother, deep thanks for all our
discussions and sharing, thanks that also include Linda and my nephews
Emil and Felix, Thanks to Hans, for being a loving man to my mother, and
to Johan and Josefin, and their families respectively. Thanks also to aunt
Astrid and uncle Henry with family, and to Åse-Marie, Torbjörn and their
family. Finally thanks to the family on my wife’s side; to Heike, Wolfgang,
Silke and Jörg in Germany, and to Anke, Math, Liam and Ella in South
Africa. You are all important to me, and have shared my thoughts and
feelings during this project.
Hans-Erik
HANS-ERIK FRÖLANDER Deafblindness – Theory-of-mind in Alström syndrome
43
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Studies from the Swedish Institute for Disability Research
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prefitting strategies and assessment of outcomes
Marie Öberg
ISBN 978-91-7393-828-0, 2008
28.
Social Interaction and Participation in Activities of Everyday Life Among Persons
with Schizophrenia
Maria Yilmaz
Licentiate Degree, 2009
29.
Focus on Chronic Disease through Different Lenses of Expertise
Towards Implementation of Patient-Focused
Decision Support Preventing Disability:
The example of Early Rheumatoid Arthritis
Örjan Dahlström
ISBN 978-91-7393-613-2, 2009
30.
Children with Cochlear Implants: Cognition and Reading Ability
Malin Wass
ISBN: 978-91-7393-487-9, 2009
31.
Restricted participation:
Unaccompanied children in interpreter-mediated asylum hearings in Sweden
Olga Keselman
ISBN: 978-91-7393-499-2, 2009
32.
Deaf people and labour market in Sweden.
Education – Employment – Economy
Emelie Rydberg
ISBN: 978-91-7668-725-3, 2010
33.
Social rättvisa i inkluderande idrottsundervisning
för elever med rörelsehinder – en utopi?
Kajsa Jerlinder
ISBN: 978-91-7668-726-0, 2010
34.
Erfarenheter av rehabiliteringsprocessen mot ett arbetsliv
– brukarens och de professionellas perspektiv
Helene Hillborg
ISBN: 978-91-7668-741-3, 2010
35.
Knowing me, knowing you – Mentalization abilities of children who use
augmentative and alternative communication
Annette Sundqvist
ISBN: 978-91-7393-316-2, 2010
36.
Lärare, socialsekreterare och barn som far illa – om sociala representationer och
interprofessionell samverkan
Per Germundsson
ISBN: 978-91-7668-787-1, 2011
37.
Fats in Mind
Effects of Omega-3 Fatty Acids on Cognition and Behaviour in Childhood
Ulrika Birberg Thornberg
ISBN: 978-91-7393-164-9, 2011
38.
”Jobbet är kommunikation”
Om användning av arbetshjälpmedel för personer med hörselnedsättning
Sif Bjarnason
Licentiate Degree. ISBN: 978-91-7668-835-9, 2011
39.
Applying the ICF-CY to identify everyday life situations of children and
youth with disabilities
Margareta Adolfsson
ISBN: 978-91-628-8342-3, 2011
40.
Tinnitus – an acceptance-based approach
Vendela Zetterqvist
ISBN: 978-91-7393-040-6, 2011
41.
Applicability of the ICF-CY to describe functioning and environment of children
with disabilities
Nina Klang
ISBN: 978-91-7668-864-9, 2012
42.
Bringing more to participation
Participation in school activities of persons with Disability within the framework
of the International Classification of Functioning, Disability and Health for
Children and Youth (ICF-CY)
Gregor Maxwell
ISBN: 978-91-628-8484-0, 2012
43.
From Eye to Us.
Prerequisites for and levels of participation in mainstream school of persons with
Autism Spectrum Conditions
Marita Falkmer
ISBN: 978-91-637-2091-8, 2013
44.
Otosclerosis, clinical long-term perspectives
Ylva Dahlin-Redfors
ISBN 978-91-628-8617-2, 2013
45.
Tinnitus in Context - A Contemporary Contextual Behavioral Approach
Hugo Hesser
ISBN 978-91-7519-701-2, 2013
46.
Hearing and middle ear status in children and young adults with cleft palate
Traci Flynn
ISBN 978-91-628-8645-5, 2013
47.
Utrymme för deltagande, beslutsprocesser i möten mellan patienter med
ospecifika ländryggsbesvär och sjukgymnaster i primär vård
Iréne Josephson
ISBN 42-978-91-85835-41-6, 2013
48.
”Man vill ju klara sig själv” Studievardagen för studenter med Asperger syndrom
i högre studier
Ann Simmeborn Fleischer
ISBN 978-91-628-8681-3, 2013
49.
Cognitive erosion and its implications in Alzheimer’s disease
Selina Mårdh
ISBN 978-91-7519-621-1, 2013
50.
Hörselscreening av en population med utvecklingsstörning
Utvärdering av psykoakustisk testmetod och av OAE-registrering som
komplementär metod
Eva Andersson
Licentiate Degree. ISBN 978-91-7519-616-9, 2013
51.
Skolformens komplexitet – elevers erfarenheter av skolvardag och tillhörighet
i gymnasiesärskolan
Therése Mineur
ISBN 978-91-7668-951-6, 2013
52.
Evaluating the process of change:
Studies on patient journey, hearing disability acceptance and stages-of-change
Vinaya Kumar Channapatna Manchaiah
ISBN 978-91-7519-534-6, 2013
53.
Cognition in hearing aid users: Memory for everyday speech
Hoi Ning (Elaine) Ng
ISBN 978-91-7519-494-3, 2013
54.
Representing sounds and spellings Phonological decline and compensatory
working memory in acquired hearing impairment
Elisabet Classon
ISBN 978-91-7519-500-1, 2013
55.
Assessment of participation in people with a mild intellectual disability
Patrik Arvidsson
ISBN 978-91-7668-974-5, 2013
56.
Barnperspektiv i barnavårdsutredningar – med barns hälsa och barns
upplevelser i fokus
Elin Hultman
ISBN 978-91-7519-457-8, 2013
57.
Internet Interventions for Hearing Loss
Examining rehabilitation Self-report measures and Internet use in hearing-aid
users
Elisabet Sundewall Thorén
ISBN 978-91-7519-423-3, 2014
58.
Exploring Cognitive Spare Capacity: Executive Processing of Degraded Speech
Sushmit Mishra
ISBN 978-91-7519-386-1, 2014
59.
Supported employment i en svensk kontext – förutsättningar när personer med
funktionsnedsättning når, får och behåller ett arbete
Johanna Gustafsson
ISBN 978-91-7529-012-6, 2014
60.
Effects of Specific Cochlear Pathologies on the Auditory Functions:
Modelling, Simulations and Clinical Implications
Amin Saremi
ISBN 978-91-7519-365-6, 2014
61.
Children with profound intellectual and multiple disabilities and their
participation in family activities
Anna Karin Axelsson
ISBN 978-91-85835-48-5, 2014
62.
Lexical and Semantic Development in Children With Cochlear Implants
Ulrika Löfkvist
ISBN 978-91-7549-546-0, 2014
63.
Rethinking sound. Computer-assisted reading intervention with a phonics
approach for deaf and hard of hearing children using cochlear implants or
hearing aids
Cecilia Nakeva von Mentzer
ISBN 978-91-7519-270-3, 2014
64.
Assessing cognitive spare capacity as a measure of listening effort using the
Auditory Inference Span Test
Niklas Rönnberg
ISBN 978-91-7519-267-3, 2014
65.
Employees with Aided Hearing Impairment: An Interdisciplinary Perspective
Håkan Hua
ISBN 978-91-7519-240-6, 2014
66.
Prosthetic and Orthotic Services in Developing Countries
Lina Magnusson
ISBN 978-91-85835-55-3, 2014
67.
Dealing with digits - Arithmetic, memory and phonology in deaf signers
Josefine Andin
ISBN: 978-91-7519-235-2, 2014
68.
Time is of the essence in speech recognition: Get it fast or think about it
Shahram Moradi
ISBN: 978-91-7519-188-1, 2014
69.
Effects of hearing loss on traffic safety and mobility
Birgitta Thorslund
ISBN: 978-91-7519-178-2, 2014
70.
Aspekter på lärande vid dövblindhet - möjligheter och begränsningar för
personer med Alström syndrom
Berit Rönnåsen
Licentiate Degree. ISBN: 978-91-7529-068-3, 2015
71.
Memory and communication in typically developing infants and children with
Autism Spectrum Disorder: Behavioral and electrophysiological indices
Emelie Nordqvist
ISBN: 978-91-7519-078-5, 2015
72.
Cognitive capacities and composite cognitive skills in individuals with
Usher syndrome type 1 and 2
Cecilia Henricson
ISBN: 978-91-7685-999-5, 2015
73.
Functioning and Disability in Adults with Hearing Loss
Preparatory studies in the ICF Core Sets for Hearing Loss project
Sarah Granberg
ISBN: 978-91-7529-086-7, 2015
74.
Speech recognition and memory processes in native and non-native
language perception
Lisa Kilman
ISBN: 978-91-7685-972-8, 2015
75.
To include or not to include: Teachers’ social representations of inclusion of
students with Asperger diagnosis
Ann-Charlotte Linton
ISBN: 978-91-7685-956-8, 2015
76.
Health and People with Usher syndrome
Moa Wahlqvist
ISBN: 978-91-7529-098-0, 2015
77.
Children with mild intellectual disability and their families – needs for support,
service utilisation and experiences of support
Lena Olsson
ISBN: 978-91-85835-66-9, 2016
78.
Deafblindness
Theory-of-mind, cognitive functioning and social network in Alström syndrome
Hans-Erik Frölander
ISBN: 978-91-7529-132-1, 2016