| 1. |
- Björkman, Kristoffer, et al.
(author)
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Clinical course of patients with single large-scale mtDNA deletions and childhood onset anemia
- 2022
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In: 14th European Paediatric Neurology Society Congress, Glasgow, UK (ISBN 978-3-00-072065-9).
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Conference paper (other academic/artistic)abstract
- Objective: To add to our knowledge of the clinical spectrum of patients with single large-scale mitochondrial DNA (mtDNA) deletion and childhood onset anemia. Methods: Retrospective collection of clinical data from medical records for patients, both living and deceased, with a single large-scale mtDNA deletion from seven mitochondrial disease centers in five countries. Statistical analysis with descriptive methods and Kaplan-Meier survival analysis. Results: Seventeen patients matching the genetic criterium and with anemia onset before six years of age. Exocrine pancreatic insufficiency was only seen in five patients in this group. Multiple organs were involved in all patients, with the most common non-hematologic ones being skeletal muscle, central nervous system, endocrine, eyes, gastrointestinal system, kidneys, hearing, liver and heart. Psychomotor retardation was seen in ten patients, hearing impairment in nine patients, failure to thrive in eight patients. Eight later developed Kearns-Sayre syndrome. Eleven patients were deceased, with a median age at death of 7.5 years. Conclusions: The classically described phenotype of patients with large-scale mtDNA deletions and early onset anemia is Pearson marrow-pancreas syndrome, characterized by sideroblastic anemia and exocrine pancreas dysfunction. Only a minority of our patients fulfill the original criteria of Pearson syndrome though. Involvement of other organs than the pancreas is more common. The clinical course vary, but multi-system impact is the rule and life-expectancy is low. Early onset anemia in patients with large-scale mtDNA deletions is most frequently not associated with exocrine pancreas dysfunction. Better knowledge of the phenotype is helpful for diagnosis and more accurate prognosis.
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| 2. |
- Sundell, Anna Lena, 1970-
(author)
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Children with orofacial clefts : dental caries and health-related quality of life
- 2016
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Doctoral thesis (other academic/artistic)abstract
- Background. The current understanding on caries and enamel developmental defects prevalence and frequency, caries risk, health-related quality life (HRQoL) and stress response in young children with cleft lip and/or palate (CL/P) are sparse. In this thesis these aspects were investigated in 5- and 10- year-old children with CL/P in comparison to non-cleft children in the same ages.Design. The studies in this thesis have a cross-sectional case-control design. Participants. The study group consisted of 139 children with CL/P (80 children aged 5 years and 59 aged 10 years) and 313 non-cleft controls (144 children aged 5 years and 169 aged 10 years).Method. Caries was scored according to International Caries Detection and Assessment System (ICDAS II) and developmental enamel defects were measured as presence and frequency of hypoplasia and hypomineralization. Oral hygiene was assessed using Quigley-Hein plaque index. Stimulated saliva samples were analyzed for mutans streptococci, lactobacilli, buffering capacity and secretion rates. Information regarding children’s oral hygiene routines, dietary habits and fluoride exposure were collected with questionnaires. Caries risk was evaluated with algorithm-based software, Cariogram while HRQoL was perceived with KIDSCREEN-52. Stress response was analyzed with cortisol concentration in saliva at three different time points using a commercial competitive radioimmunoassay.Results. Caries prevalence (36% versus 18%) and caries frequency (1.2 dmfs versus 0.9 dmfs) was significantly higher in 5-year-old children with CL/P in comparison to non-cleft controls. In 10-yearolds no significant difference was found between children with CL/P and non-cleft controls in caries prevalence (47% versus 38%) or in caries frequency (0.7 DMFS versus 0.5 DMFS). Children with CL/P had significantly higher prevalence of enamel defects, higher counts of salivary lactobacilli and less good oral hygiene. The odds of being categorized with high caries risk were elevated in children with CL/P. Children with CL/P had similar HRQoL and salivary cortisol concentrations as non-cleft controls. However, 10-year-old boys with CL/P had significantly higher cortisol concentrations in the evening than non-cleft boys.Conclusions. Preschool children with CL/P seem to have more caries in the primary dentition than non-cleft controls. Children with CL/P had increased odds of being categorized as high caries risk individuals compared to controls. Some of the contributing factors seem to be higher prevalence of enamel defects, impaired oral hygiene and elevated salivary lactobacilli. Furthermore, as measured with the help of cortisol concentrations in saliva, children with CL/P were not more stressed than noncleft controls and their HRQoL was comparable to a European norm population. It appears that regular comprehensive preventive oral care in children with CL/P is effective in preventing caries development in permanent teeth. However, children with CL/P are at risk of caries development and preventive oral care should be implemented and started earlier than today.
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| 3. |
- Mirkoska, Vesna, et al.
(author)
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Detection of subclinical motor speech deficits after presumed low-grade glioma surgery
- 2023
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In: Brain Sciences. - : MDPI. - 2076-3425. ; 13:12
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Journal article (peer-reviewed)abstract
- Motor speech performance was compared before and after surgical resection of presumed low-grade gliomas. This pre- and post-surgery study was conducted on 15 patients (mean age = 41) with low-grade glioma classified based on anatomic features. Repetitions of /pa/, /ta/, /ka/, and /pataka/ recorded before and 3 months after surgery were analyzed regarding rate and regularity. A significant reduction (6 to 5.6 syllables/s) pre- vs. post-surgery was found in the rate for /ka/, which is comparable to the approximate average decline over 10–15 years of natural aging reported previously. For all other syllable types, rates were within normal age-adjusted ranges in both preoperative and postoperative sessions. The decline in /ka/ rate might reflect a subtle reduction in motor speech production, but the effects were not severe. All but one patient continued to perform within normal ranges post-surgery; one performed two standard deviations below age-appropriate norms pre- and post-surgery in all syllable tasks. The patient experienced motor speech difficulties, which may be related to the tumor’s location in an area important for speech. Low-grade glioma may reduce maximum speech-motor performance in individual patients, but larger samples are needed to elucidate how often the effect occurs.
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| 4. |
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| 5. |
- Socher, Michaela, et al.
(author)
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Comparing the semantic networks of children with cochlear implants and children with typical hearing: Effects of length of language access
- 2022
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In: Journal of Communication Disorders. - : Elsevier. - 0021-9924 .- 1873-7994. ; 99
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Journal article (peer-reviewed)abstract
- PurposeKenett et al. (2013) report that the sematic networks, measured by using an oral semantic fluency task, of children with cochlear implants (CI) are less structured compared to the sematic networks of children with typical hearing (TH). This study aims to evaluate if such differences are only evident if children with CI are compared to children with TH matched on chronological age, or also if they are compared to children with TH matched on hearing age.MethodThe performance of a group of children with CI on a verbal fluency task was compared to the performance of a group of chronological-age matched children with TH. Subsequently, computational network analysis was used to compare the semantic network structure of the groups. The same procedure was applied to compare a group of children with CI to a group of hearing-age matched children with TH.ResultsThe children with CI perform on the same level on an oral semantic verbal fluency task as the children with TH matched on hearing age. There are significant differences in terms of the structure of the semantic network between the groups. The magnitude of these differences is very small and they are non-significant for a proportion of nodes included in the bootstrap analysis. This indicates that there is no true difference between the networks. Hearing age, but not age at implantation was found to be significantly positively correlated with semantic verbal fluency performance for the children with CI.ConclusionsThe results from the current study indicate that length of language exposure is an important factor for the structure of the semantic network and the performance on a semantic verbal fluency task for children with CI. Further studies are needed to explore the role of the accessibility of the language input for the development of semantic networks of children with CI.
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| 6. |
- Hedbrant, Johan, 1959-, et al.
(author)
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Ny mätmetod för käkmuskulaturen kan finna orsaken till tinnitus : Slutrapport Nutek 92-11904
- 1997
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Reports (other academic/artistic)abstract
- Tinnitus är en åkomma som i lindrigare eller allvarligare former drabbar 17% av västvärldens befolkning. Ca 85 000 svenskar har tinnitus på invalidiserande nivå. Förutom mänskligt lidande orsakar tinnitus samhällskostnader på ca 1.5 miljard kr årligen. Orsaken är till största delen okänd.Vissa tecken tyder på ett samband mellan tinnitus och funktionsstörning i en käkmuskel. Några olika icke–invasiva metoder för mätning av muskelstörning i M Pterygoideus Lateralis har utvärderas. Två av dessa är intressanta för fortsatta studier.Termografi användes för att diagnosticera muskelstörningar på ytligt liggande muskler. Vi såg åtskilliga varma områden på ytliga käk– och nackmuskler på de patienter som hade käkledsstörningar, samt möjligen tecken på onormal värme från M Pterygoideus Lateralis. Mätförhållandena var dock ej ideala.En metod att mäta EMG med adaptiv noise cancelling provades. EMG från en ryggmuskel, stört av en “EKG–signal” från hjärtat användes. Metoden fungerade bra. Fortsatt metodutveckling på t.ex. ryggmuskler borde göras.
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| 7. |
- Danielsson, D., et al.
(author)
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Brachytherapy and osteoradionecrosis in patients with base of tongue cancer
- 2023
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In: Acta Oto-Laryngologica. - : Informa UK Limited. - 0001-6489 .- 1651-2251. ; 143:1, s. 77-84
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Journal article (peer-reviewed)abstract
- Background: Base of tongue cancer incidence and patient survival is increasing why treatment sequelae becomes exceedingly important. Osteoradionecrosis (ORN) is a late adverse effect of radiotherapy and brachytherapy (BT) could be a risk factor. Brachytherapy is used in three out of six health care regions in Sweden. Aims: Investigate if patients treated in regions using BT show an increased risk for ORN and whether brachytherapy has any impact on overall survival. Material and Methods: We used data from the Swedish Head and Neck Cancer Register between 2008–2014. Due to the nonrandomized nature of the study and possible selection bias we compared the risk for ORN in brachy vs non-brachy regions. Results: Fifty out of 505 patients (9.9%) developed ORN; eight of these were treated in nonbrachy regions (16%), while 42 (84%) were treated in brachy regions. Neither age, sex, TNM-classification/stage, p16, smoking, neck dissection, or chemotherapy differed between ORN and no-ORN patients. The risk for ORN was significantly higher for patients treated in brachy regions compared to non-brachy regions (HR = 2,63, p =.012), whereas overall survival did not differ (HR = 0.95, p =.782). Conclusions and Significance: Brachytherapy ought to be used cautiously for selected patients or within prospective randomized studies.
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| 8. |
- Hua, Håkan, et al.
(author)
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The impact of different background noises : effects on cognitive performance and perceived disturbance in employees with aided hearing impairment and normal hearing
- 2014
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In: Journal of the American Academy of Audiology. - : American Academy of Audiology. - 1050-0545 .- 2157-3107. ; 25:9, s. 859-868
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Journal article (peer-reviewed)abstract
- Background: Health care professionals frequently meet employees with hearing impairment (HI) who experience difficulties at work. There are indications that the majority of these difficulties might be related to the presence of background noise. Moreover, research has also shown that high-level noise has a more detrimental effect on cognitive performance and self-rated disturbance in individuals with HI than low-level noise.Purpose: The purpose of this study was to examine the impact of different types of background noise on cognitive performance and perceived disturbance (PD) in employees with aided HI and normal hearing.Research Design: A mixed factorial design was conducted to examine the effect of noise in four experimental conditions.Study Sample: A total of 40 participants (21 men and 19 women) were recruited to take part in the study. The study sample consisted of employees with HI (n = 20) and normal hearing (n = 20). The group with HI had a mild-moderate sensorineural HI, and they were all frequent hearing-aid users.Intervention: The current study was conducted by using four general work-related tasks (mental arithmetic, orthographic decoding, phonological decoding, and serial recall) in four different background conditions: (1) quiet, (2) office noise at 56 dBA, (3) daycare noise at 73.5 dBA, and (4) traffic noise at 72.5 dBA. Reaction time and the proportion of correct answers in the working tasks were used as outcome measures of cognitive performance. The Borg CR-10 scale was used to assess PD.Data Collection and Analysis: Data collection occurred on two separate sessions, completed within 4 wk of each other. All tasks and experimental conditions were used in a counterbalanced order. Two-way analysis of variance with repeated measures was performed to analyze the results. To examine interaction effects, pairwise t-tests were used. Pearson correlation coefficients between reaction time and proportion of correct answers, and cognitive performance and PD were also calculated to examine the possible correlation between the different variables.Results: No significant between-group or within-group differences in cognitive performance were observed across the four background conditions. Ratings of PD showed that both groups rated PD according to noise level, where higher noise level generated a higher PD. The present findings also demonstrated that the group with HI was more disturbed by higher than lower levels of noise (i.e., traffic and daycare setting compared with office setting). This pattern was observed consistently throughout four working tasks where the group with HI reported a significantly greater PD in the daycare and traffic settings compared with office noise.Conclusions: The present results demonstrate that background noise does not impair cognitive performance in nonauditory tasks in employees with HI and normal hearing, but that PD is affected to a greater extent in employees with HI during higher levels of background noise exposure. In addition, this study also supports previous studies regarding the detrimental effects that high-level noise has on employees with HI. Therefore, we emphasize the need of both self-rated and cognitive measurements in hearing care and occupational health services for both employees with normal hearing and HI.
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| 9. |
- Karlsson, Fredrik, Docent, 1975-, et al.
(author)
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Assessment of speech impairment in patients with Parkinson's disease from acoustic quantifications of oral diadochokinetic sequences
- 2020
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In: Journal of the Acoustical Society of America. - : Acoustical Society of America (ASA). - 0001-4966 .- 1520-8524. ; 147:2, s. 839-851
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Journal article (peer-reviewed)abstract
- This investigation aimed at determining whether an acoustic quantification of the oral diadochokinetic (DDK) task may be used to predict the perceived level of speech impairment when speakers with Parkinson's disease (PD) are reading a standard passage. DDK sequences with repeated [pa], [ta], and [ka] syllables were collected from 108 recordings (68 unique speakers with PD), along with recordings of the speakers reading a standardized text. The passage readings were assessed in five dimensions individually by four speech-language pathologists in a blinded and randomized procedure. The 46 acoustic DDK measures were merged with the perceptual ratings of read speech in the same recording session. Ordinal regression models were trained repeatedly on 80% of ratings and acoustic DDK predictors per dimension in 10-folds, and evaluated in testing data. The models developed from [ka] sequences achieved the best performance overall in predicting the clinicians' ratings of passage readings. The developed [pa] and [ta] models showed a much lower performance across all dimensions. The addition of samples with severe impairments and further automation of the procedure is required for the models to be used for screening purposes by non-expert clinical staff.
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| 10. |
- Löfqvist, Anders
(author)
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Vowel-related tongue movements in speech: Straight or curved paths? (L).
- 2011
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In: The Journal of the Acoustical Society of America. - : Acoustical Society of America (ASA). - 1520-8524 .- 0001-4966. ; 129:3, s. 1149-1152
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Journal article (peer-reviewed)abstract
- This paper examines tongue movements between the two vowels in sequences of vowel-labial consonant-vowel, addressing the question whether the movement is a straight line or a curved path. Native speakers of Japanese and Italian served as subjects. The linguistic material consisted of words where the bilabial consonant was either long or short. The inclusion of words with different consonant lengths was motivated by earlier findings that the tongue movement is often longer when the consonant is long, which may be due to a more curved movement path. Tongue movements were recorded using a three-transmitter magnetometer system. To assess the movement path, the movement magnitude was calculated in two ways, as a straight line, the Euclidean distance, and as the actual path, obtained by summing the individual Euclidean distances between successive samples from movement onset to offset. The ratio between the path and the Euclidean distance is 1 when the movement is a straight line and greater than 1 when the path is curved. Results show that in virtually all 21 cases examined the ratio was very close to 1 and in most cases 1.2 or less. There was no reliable influence of consonant length on the ratio.
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