| 1. |
- Carlsson, Per-Inge, 1959-, et al.
(författare)
-
GJB2 (Connexin 26) gene mutations among hearing-impaired persons in a Swedish cohort
- 2012
-
Ingår i: Acta Oto-Laryngologica. - London, United Kingdom : Informa Healthcare. - 0001-6489 .- 1651-2251. ; 132:12, s. 1301-1305
-
Tidskriftsartikel (refereegranskat)abstract
- Conclusion: The most common mutation in the Swedish population was Connexin 26 (C×26) 35delG, which indicates that the percentage of Swedish persons with C×26 mutations and polymorphisms in the GJB2 gene among non-syndromic hearing-impaired (HI) persons is comparable to the rest of Europe. The results strongly support a Swedish policy to offer all children with diagnosed hearing impairment genetic tests for the C×26 35delG mutation.Objectives: The aim of the present study was to search for mutations in the GBJ2 gene among Swedish persons with non-syndromic hearing impairment to further clarify how common these mutations are in Sweden, one of the northernmost countries in Europe.Methods: Seventy-nine patients with non-syndromic hearing impairment participated in the study. For 87% of the participants, a pure tone audiogram showed a severe or profound hearing impairment. Dried blood spots on filter paper, taken at 3-5 days of age in the Swedish nationwide neonatal screening programme for congenital disorders and saved in a biobank, were used for the molecular genetic analyses.Results: The total number of subjects with one or two pathologic mutations or a mutation of unknown consequence found in the GJB2 gene was 28 of 79 (35%). Nineteen (19) persons (24%) were homozygotes for the 35delG mutation.
|
|
| 2. |
- Wass, Malin, et al.
(författare)
-
Correlates of Orthographic Learning in Swedish Children With Cochlear Implants
- 2019
-
Ingår i: Frontiers in Psychology. - : Frontiers Media S.A.. - 1664-1078. ; 10
-
Tidskriftsartikel (refereegranskat)abstract
- This study set out to explore the cognitive and linguistic correlates of orthographic learning in a group of 32 deaf and hard of hearing children with cochlear implants, to better understand the factors that affect the development of fluent reading in these children. To date, the research about the mechanisms of reading fluency and orthographic learning in this population is scarce. The children were between 6:0 and 10:11 years of age and used oral language as their primary mode of communication. They were assessed on orthographic learning, reading fluency and a range of cognitive and linguistic skills including working memory measures, word retrieval and paired associate learning. The results were analyzed in a set of correlation analyses. In line with previous findings from children with typical hearing, orthographic learning was strongly correlated with phonological decoding, receptive vocabulary, phonological skills, verbal-verbal paired-associate learning and word retrieval. The results of this study suggest that orthographic learning in children with CI is strongly dependent on similar cognitive and linguistic skills as in typically hearing peers. Efforts should thus be made to support phonological decoding skill, vocabulary, and phonological skills in this population.
|
|
| 3. |
- Asp, Filip, et al.
(författare)
-
A longitudinal study of the bilateral benefit in children with bilateral cochlear implants
- 2015
-
Ingår i: International Journal of Audiology. - : Taylor & Francis. - 1499-2027 .- 1708-8186. ; 54:2, s. 77-88
-
Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To study the development of the bilateral benefit in children using bilateral cochlear implants by measurements of speech recognition and sound localization.DESIGN: Bilateral and unilateral speech recognition in quiet, in multi-source noise, and horizontal sound localization was measured at three occasions during a two-year period, without controlling for age or implant experience. Longitudinal and cross-sectional analyses were performed. Results were compared to cross-sectional data from children with normal hearing.STUDY SAMPLE: Seventy-eight children aged 5.1-11.9 years, with a mean bilateral cochlear implant experience of 3.3 years and a mean age of 7.8 years, at inclusion in the study. Thirty children with normal hearing aged 4.8-9.0 years provided normative data.RESULTS: For children with cochlear implants, bilateral and unilateral speech recognition in quiet was comparable whereas a bilateral benefit for speech recognition in noise and sound localization was found at all three test occasions. Absolute performance was lower than in children with normal hearing. Early bilateral implantation facilitated sound localization.CONCLUSIONS: A bilateral benefit for speech recognition in noise and sound localization continues to exist over time for children with bilateral cochlear implants, but no relative improvement is found after three years of bilateral cochlear implant experience.
|
|
| 4. |
|
|
| 5. |
- Asp, Filip, et al.
(författare)
-
Bilateral versus unilateral cochlear implants in children: Speech recognition, sound localization, and parental reports
- 2012
-
Ingår i: International Journal of Audiology. - : Informa Healthcare. - 1499-2027 .- 1708-8186. ; 51:11, s. 817-832
-
Tidskriftsartikel (refereegranskat)abstract
- Objective: To compare bilateral and unilateral speech recognition in quiet and in multi-source noise, and horizontal sound localization of low and high frequency sounds in children with bilateral cochlear implants. Design: Bilateral performance was compared to performance of the implanted side with the best monaural speech recognition in quiet result. Parental reports were collected in a questionnaire. Results from the CI children were compared to binaural and monaural performance of normal-hearing peers. Study sample: Sixty-four children aged 5.1-11.9 years who were daily users of bilateral cochlear implants. Thirty normal-hearing children aged 4.8-9.0 years were recruited as controls. Results and Conclusions : Group data showed a statistically significant bilateral speech recognition and sound localization benefit, both behaviorally and in parental reports. The bilateral speech recognition benefit was smaller in quiet than in noise. The majority of subjects localized high and low frequency sounds significantly better than chance using bilateral implants, while localization accuracy was close to chance using unilateral implants. Binaural normal-hearing performance was better than bilateral performance in implanted children across tests, while bilaterally implanted children showed better localization than normal-hearing children under acute monaural conditions.
|
|
| 6. |
|
|
| 7. |
|
|
| 8. |
|
|
| 9. |
|
|
| 10. |
- Falkenius Schmidt, Karolina, et al.
(författare)
-
Long-term linguistic outcome in adults with congenital cytomegalovirus infection
- 2024
-
Ingår i: Infectious Diseases. - : Taylor & Francis. - 2374-4235 .- 2374-4243. ; 56:1, s. 32-41
-
Tidskriftsartikel (refereegranskat)abstract
- BackgroundCongenital cytomegalovirus (cCMV) is the most common prenatal infection and the main infectious cause of neurodevelopmental abnormalities in developed countries. Long-term neuropsychological outcome of cCMV infection is still not well understood. This is the first study that presents linguistic follow-up data performed on adults who were infected in utero.MethodAll individuals from a universal newborn CMV screening study in Sweden sampled from 1977 to 1985 were invited to participate in a follow-up study. 34/71 persons (48%) with cCMV and 22/46 controls (48%) were enrolled. Participants were between 34 and 43 years. Linguistic ability was evaluated with two-word fluency tasks (FAS letter fluency and verb fluency), and a qualitative analysis of the participants’ word retrieval strategies was conducted.ResultsNo statistically significant group differences were found in the total number of retrieved words. When related to Swedish norm data, 43% of participants with cCMV infection, all asymptomatic at birth, had adequate results on both FAS and verb fluency tasks, compared to 86% of the controls. Education level was the most important factor for word fluency ability in both groups. Adults with cCMV infection and higher education levels used less effective retrieval strategies on FAS letter fluency than controls.ConclusionThis study suggests that adults with cCMV infection may have deficits in the word retrieval process, even in the absence of known neurodevelopmental disorders. Long-term effects of cCMV infection may exist even in those with asymptomatic infection at birth.
|
|
| 11. |
- Karltorp, Eva
(författare)
-
Congenital CMV infection and connexin 26 mutations in childhood deafness : intervention with early cochlear implantation
- 2013
-
Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Hearing impairment (HI) is a common disability, which affects a significant proportion of the population. Early in life, however, the risk of acquiring a HI is low, with 0.2 % of all newborns having a permanent HI, and of these, 0.04 % have a severe or profound HI. Even if there are only a few children born with a permanent HI, the consequences can be devastating for their speech perception and spoken language development. Normal hearing children, start to hear and differentiate sounds already in the fifth month of pregnancy, and thereafter, their speech and language acquisition is intensive during the first years of life. If, however, a child with a HI is to have a chance to catch up with normal hearing children, in terms of spoken language acquisition, it is important to provide the child with the best possible auditory input at the earliest opportunity. The two most common reasons for permanent childhood HI are congenital cytomegalovirus (cCMV) infection and Connexin 26 (Cx26) mutations. cCMV infection might give the child other disabilities, such as cognitive delay, cerebral palsy and visual impairment, in addition to the HI. For children with Cx26 mutations, additional disabilities are less common. The aim of this thesis was to study the results after CI intervention in children with permanent HI, and especially, to examine the effect of implantation in infants. Moreover, the aim was to study children with cCMV infection and Cx26 mutations and to describe the additionally disabilities arising from a cCMV infection. In the first study, 90 children with a variety of HIs, which were of unknown etiology and non-syndromic, were tested for cCMV infection. The dried blood spot (DBS) sample, taken in the newborn period, was analysed for CVM DNA. Of the 90 children, 18 (20%) tested positive for cCMV infection. In the second study, 79 children, of whom the majority had severe to profound, non- syndromic HI, were tested for Cx26 mutations. Twenty-four of the 79 children (30 %) had two pathological Cx26 mutations. In the third study, 26 children with a HI caused by cCMV infection and 13 children with a HI caused by Cx26 mutations were examined by a multidisciplinary team, with the intention of investigating how frequently additional disabilities were present. Among the children with cCMV infection, there were a high number of children with disturbed balance and in addition neurodevelopmental disabilities and feeding problems were also found. Many of these additional disabilities have not previously been associated with a cCMV infection. In the Cx26 group, such additional problems were not found. In the fourth study, a cohort of 137 children with CIs, operated between 2002 and 2011 was described. When children were operated on before nine months of age, no language delay was apparent when compared with data for normal hearing children. Additionally, their speech intelligibility was rated high sooner than for children who received their implants at a later age. The children who received implants between 9 and 11 months of age, caught up with the children operated on before they were nine months old, within two to three years. When their vocabulary was tested, the children with implants introduced at 12-17 months of age, caught up at early school-age. Those implanted later, when 18 months old or more, did not, however, catch up with the children who had received implants when younger. In conclusion, early CI intervention is of great importance for children born with profound HI, if the aim is to acquire age-equivalent spoken language development. In addition, knowledge about the child’s etiology is important for an appropriate early and correct HI diagnosis, and to identify possible additional disabilities. Based on this broader knowledge about the child with a HI, it will be possible to give the child and family tailored support.
|
|
| 12. |
|
|
| 13. |
- Lidehäll, Anna Karin, et al.
(författare)
-
Cytomegalovirus-Specific CD4 and CD8 T Cell Responses in Infants and Children
- 2013
-
Ingår i: Scandinavian Journal of Immunology. - : Wiley. - 0300-9475 .- 1365-3083. ; 77:2, s. 135-143
-
Tidskriftsartikel (refereegranskat)abstract
- Congenital cytomegalovirus (CMV) infection is the most common congenital infection causing childhood morbidity. The pathogenetic mechanisms behind long-term sequelae are unclear, but long-standing viremia as a consequence of the inability to convert the virus to a latent state has been suggested to be involved. Whereas primary CMV infection in adults is typically rapidly controlled by the immune system, children have been shown to excrete virus for years. Here, we compare T-cell responses in children with congenital CMV infection, children with postnatal CMV infection and adults with symptomatic primary CMV infection. The study groups included 24 children with congenital CMV infection, 19 children with postnatal CMV infection and 8 adults with primary CMV infection. Among the infants with congenital CMV infection, 13 were symptomatic. T-cell responses were determined by analysis of interferon gamma-production after stimulation with CMV antigen. Our results show that whereas adults display high CMV-specific CD4 T-cell responses in the initial phase of the infection, children younger than 2 years have low or undetectable responses that appear to increase with time. There were no differences between groups with regard to CD8 T-cell function. In conclusion, inadequate CD 4 T-cell function seem to be involved in the failure to get immune control of the CMV infection in children younger than 2 years of age with congenital as well as postnatal CMV infection.
|
|
| 14. |
- Löfkvist, Ulrika, Docent, et al.
(författare)
-
Executive Functions, Pragmatic Skills, and Mental Health in Children With Congenital Cytomegalovirus (CMV) Infection With Cochlear Implants: A Pilot Study
- 2020
-
Ingår i: Frontiers in Psychology. - : FRONTIERS MEDIA SA. - 1664-1078. ; 10
-
Tidskriftsartikel (refereegranskat)abstract
- Congenital cytomegalovirus (cCMV) infection is the most common cause of progressive hearing impairment. In our previous study around 90% of children with a cCMV infection and CI had severely damaged balance functions (Karltorp et al., 2014). Around 20% had vision impairment, 15% were diagnosed with Autism-Spectrum-Disorder, and 20% with ADHD. One clinical observation was that children with cCMV infection had problems with executive functioning (EF), while controls with a genetic cause of deafness (Connexin 26 mutations; Cx26) did not have similar difficulties. A follow-up study was therefore initiated with the main objective to examine EF and pragmatic skills in relation to mental health in children with a cCMV infection and to draw a comparison with matched controls with Cx26 mutations (age, sex, hearing, non-verbal cognitive ability, vocabulary, and socioeconomic status level). Ten children with a cCMV infection and CI (4.8-12:9 years) and seven children with CI (4:8-12:8 years) participated in the study, which had a multidisciplinary approach. Executive functioning was assessed both with formal tests targeting working memory and attention, parent and teacher questionnaires, and a systematic observation by a blinded psychologist during one test situation. Pragmatics and mental health were investigated with parent and teacher reports. In addition, the early language outcome was considered in non-parametric correlation analyses examining the possible relationships between later EF skills, pragmatics, and mental health. Children with cCMV had a statistically significant worse pragmatic outcome and phonological working memory than controls despite their groups having similar non-verbal cognitive ability and vocabulary. However, there were no statistical differences between the groups regarding their EF skills in everyday settings and mental health. There were associations between early language outcomes and later EF skills and pragmatics in the whole sample. Conclusion: Children with a cCMV infection are at risk of developing learning difficulties in school due to difficulties with phonological working memory and pragmatic skills in social interactions.
|
|
| 15. |
- Löfkvist, Ulrika, et al.
(författare)
-
Gender differences in caregiver's use of spoken language with young children who are hard-of-hearing
- 2022
-
Ingår i: International Journal of Pediatric Otorhinolaryngology. - : Elsevier BV. - 0165-5876 .- 1872-8464. ; 156
-
Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: Shared parenting among caregivers of different gender is common in the Swedish society. It is unclear if this includes shared contribution for children's language development. The objective of this cross-sectional study was to explore the natural language environment of children who were hard-of-hearing compared to typically hearing controls.METHODS: Seventy-two families with children aged 7-35 months participated; 22 children who were hard-of-hearing (Cochlear implants, n=11; Hearing aids, n=11) and 50 controls with typical hearing. The majority of caregivers had higher education background level, especially in the control group. Families conducted a daylong recording with the Language Environment Analysis technology, when both parents were present at home. An Interpreted Time Segmental analysis was performed to extract information about female versus male caregivers quantitative word use.RESULTS: The results showed significant gender differences related to number of adult words, with less male words than female words (p <0.001). Male caregivers of children who were hard-of-hearing contributed with around 27 % of adult words during the recordings while males in the control group contributed with 37 %. There was a larger variation in number of female words in the study group than for controls, especially in mothers of children with cochlear implants.CONCLUSIONS: Female caregivers talk significantly more close to young children than male caregivers, and especially in the subgroup of children with cochlear implants. Children who are hard-of-hearing are dependent on a rich language environment, and might be especially vulnerable if male caregivers are less involved as language facilitators. More studies are needed to explore caregiver gender differences, both related to quantitative and qualitative language stimulation.
|
|
| 16. |
- Smeds, Henrik, et al.
(författare)
-
X-linked Malformation Deafness : Neurodevelopmental Symptoms Are Common in Children With IP3 Malformation and Mutation in POU3F4
- 2022
-
Ingår i: Ear and Hearing. - : Lippincott, Williams & Wilkins. - 0196-0202 .- 1538-4667. ; 43:1, s. 53-69
-
Tidskriftsartikel (refereegranskat)abstract
- Objective: Incomplete partition type 3 (IP3) malformation deafness is a rare hereditary cause of congenital or rapid progressive hearing loss. The children present with a severe to profound mixed hearing loss and temporal bone imaging show a typical inner ear malformation classified as IP3. Cochlear implantation is one option of hearing restoration in severe cases. Little is known about other specific difficulties these children might exhibit, for instance possible neurodevelopmental symptoms.Material and methods: Ten 2; 0 to 9; 6-year-old children with IP3 malformation deafness (nine boys and one girl) with cochlear implants were evaluated with a retrospective chart review in combination with an additional extensive multidisciplinary assessment day. Hearing, language, cognition, and mental ill-health were compared with a control group of ten 1; 6 to 14; 5-year-old children with cochlear implants (seven boys and three girls) with another genetic cause of deafness, mutations in the GJB2 gene.Results: Mutations in POU3F4 were found in nine of the 10 children with IP3 malformation. Children with IP3 malformation deafness had an atypical outcome with low level of speech recognition (especially in noise), executive functioning deficits, delayed or impaired speech as well as atypical lexical-semantic and pragmatic abilities, and exhibited mental ill-health issues. Parents of children with IP3 malformation were more likely to report that they were worried about their child’s psychosocial wellbeing. Controls, however, had more age-typical results in all these domains. Eight of 10 children in the experimental group had high nonverbal cognitive ability despite their broad range of neurodevelopmental symptoms.Conclusions: While cochlear implantation is a feasible alternative for children with IP3 malformation deafness, co-occurring neurodevelopmental anomalies, such as attention deficit hyperactivity or developmental language disorder, and mental ill-health issues require an extensive and consistent multidisciplinary team approach during childhood to support their overall habilitation.
|
|
| 17. |
|
|
| 18. |
- Wass, Malin, et al.
(författare)
-
Learning to read when speech sounds different : Orthographic learning in children with cochlear implants
- 2018
-
Konferensbidrag (refereegranskat)abstract
- PurposeThe aim of this study was to investigate orthographic learning and reading skill in Swedish children with cochlear implants (CI) in comparison with normal hearing peers (NH), and to explore relationships between orthographic learning and cognitive skills in the CI group.MethodEighteen children with CI and 43 NH children, matched for age and nonverbal IQ, participated. They were 7;10 - 10;4 years of age. All children were tested on reading fluency (words and nonwords), orthographic learning, existing orthographic representations, working memory (WM), and expressive vocabulary. The children with CI were also assessed on verbal fluency, paired associate learning (visual-visual, verbal-verbal and visual-verbal) and phoneme deletion. Group differences were analyzed with Mann-Whitney U tests. Relationships between skills were analyzed in partial correlations with age controlled.ResultsThe children with CI performed below the level of hearing peers on the measures of WM, and expressive vocabulary. They also performed below age-norms on the phoneme deletion task.On the other hand, the groups did not differ significantly on reading fluency, existing orthographic representations or orthographic learning. The group difference on orthographic learning approached significance (p=.07). In the CI group, orthographic learning was strongly correlated with reading fluency (words and nonwords respectively), visual-verbal and verbal-verbal paired associate learning, and verbal fluency.ConclusionsDespite having poorer language skills and lower WM capacity, children with CI may successfully learn new orthographic representations and develop fluent reading. In line with the self-teaching hypothesis (Share, 1999), orthographic learning was strongly related to phonological decoding (nonword reading fluency) also in children with CI. In addition, paired associate learning, verbal fluency, and WM capacity were related to their orthographic learning skill.
|
|
| 19. |
- Wass, Malin, et al.
(författare)
-
Predictors of Reading Comprehension in Children With Cochlear Implants
- 2019
-
Ingår i: Frontiers in Psychology. - : Frontiers Media S.A.. - 1664-1078. ; 10
-
Tidskriftsartikel (refereegranskat)abstract
- Children with a profound hearing loss who have been implanted with cochlear implants (CI), vary in terms of their language and reading skills. Some of these children have strong language skills and are proficient readers whereas others struggle with language and both the decoding and comprehension aspects of reading. Reading comprehension is dependent on a number of skills where decoding, spoken language comprehension and receptive vocabulary have been found to be the strongest predictors of performance. Children with CI have generally been found to perform more poorly than typically hearing peers on most predictors of reading comprehension including word decoding, vocabulary and spoken language comprehension, as well as working memory. The purpose of the current study was to investigate the relationships between reading comprehension and a number of predictor variables in a sample of twenty-nine 11–12-year-old children with profound hearing loss, fitted with CI. We were particularly interested in the extent to which reading comprehension in children with CI at this age is dependent on decoding and receptive vocabulary. The predictor variables that we set out to study were word decoding, receptive vocabulary, phonological skills, and working memory. A second purpose was to explore the relationships between reading comprehension and demographic factors, i.e., parental education, speech perception and age of implantation. The results from these 29 children indicate that receptive vocabulary is the most influential predictor of reading comprehension in this group of children although phonological decoding is, of course, fundamental.
|
|
| 20. |
- Wass, Malin, et al.
(författare)
-
Reading fluency and orthographic learning in Swedish children with CI
- 2017
-
Ingår i: Abstract book. - : Linköping University. ; , s. 196-196
-
Konferensbidrag (refereegranskat)abstract
- The present study examined reading fluency and orthographic learning in 40 children with cochlear implants. Their age range was 6;0-10;11.The children were implanted with their (first) CI at 24 months on average and thirty-four of them were bilaterally implanted. Sixty to 70 percent of the children with CI had reading skills at or above the 45th percentile on the measures of orthographic and phonological word reading fluency. Speech perception in silence was moderately associated with both reading fluency and orthographic learning. Hierarchical regression analyses showed that phonological decoding was a strong predictor of orthographic learning after age and non-verbal skills were accounted for. Receptive vocabulary, verbal fluency and verbal-verbal paired-associate learning predicted additional variance in orthographic learning after phonological decoding was controlled for.Phoneme awareness was the strongest predictor of both orthographic- and phonological- and decoding fluency after age and nonverbal skills were controlled.Age at implantation was not a significant predictor of any of the measures of reading or orthographic learning.These results resemble the pattern typically found in normal hearing children and suggests that phonemic awareness and phonological decoding are crucial for orthographic learning and reading fluency in children with CI.
|
|
