| 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. |
- Hartel, Bas P., et al.
(author)
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A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa
- 2016
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In: Hearing Research. - Amsterdam, Netherlands : Elsevier. - 0378-5955 .- 1878-5891. ; 339, s. 60-68
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Journal article (peer-reviewed)abstract
- Objectives: Usher syndrome is an inherited disorder that is characterized by hearing impairment (HI), retinitis pigmentosa, and in some cases vestibular dysfunction. Usher syndrome type IIa is caused by mutations in USH2A. HI in these patients is highly heterogeneous and the present study evaluates the effects of different types of USH2A mutations on the audiometric phenotype. Data from two large centres of expertise on Usher Syndrome in the Netherlands and Sweden were combined in order to create a large combined sample of patients to identify possible genotype-phenotype correlations.Design: A retrospective study on HI in 110 patients (65 Dutch and 45 Swedish) genetically diagnosed with Usher syndrome type IIa. We used methods especially designed for characterizing and testing differences in audiological phenotype between patient subgroups. These methods included Age Related Typical Audiograms (ARTA) and a method to evaluate the difference in the degree of HI developed throughout life between subgroups.Results: Cross-sectional linear regression analysis of last-visit audiograms for the best hearing ear demonstrated a gradual decline of hearing over decades. The congenital level of HI was in the range of 16-33 dB at 0.25-0.5 kHz, and in the range of 51-60 dB at 1-8 kHz. The annual threshold deterioration was in the range of 0.4-0.5 dB/year at 0.25-2 kHz and in the range of 0.7-0.8 dB/year at 4-8 kHz. Patients with two truncating mutations, including homozygotes for the common c.2299delG mutation, developed significantly more severe HI throughout life than patients with one truncating mutation combined with one nontruncating mutation, and patients with two nontruncating mutations.Conclusions: The results have direct implications for patient counselling in terms of prognosis of hearing and may serve as baseline measures for future (genetic) therapeutic interventions.
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| 3. |
- 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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| 4. |
- Hallberg, Lillemor R-M, 1942, et al.
(author)
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Facing a moral dilemma--introducing a dental care insurance within the public dental service.
- 2012
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In: Swedish dental journal. - : Swedish dental journal. - 0347-9994. ; 36:3, s. 149-56
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Journal article (peer-reviewed)abstract
- Through the reform entitled "Dental care insurance-dental care at a fixed price", patients are offered a dental insurance, a capitation plan, that ensures that they can visit the dentist regularly during a period of three years at a fixed price per month (Frisktandvård).This insurance may be offered to all patients. The aim of this study was to generate a theory explaining the main concern for the staff at the public dental service when they have to introduce and advocate dental care insurance to patients. Interview data from 17 persons, representing different professions within the public dental service, were collected and analyzed simultaneously in line with guidelines for grounded theory. The results indicated that dentists/dental hygienists experienced several difficult standpoints concerning the implementation of the dental insurance, somewhat of a moral dilemma. The staff generally had a "cautiously positive attitude" to the forthcoming dental care insurance, but had perceptions how and when the patients should be offered the insurance and what that may mean to the clinic.The respondents reflected about the economic aspects for the clinic and how the oral health may be affected over time for the patients.
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| 5. |
- Alm, Fredrik, 1983-, et al.
(author)
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Patient reported pain-related outcome measures after tonsil surgery: an analysis of 32,225 children from the National Tonsil Surgery Register in Sweden 2009-2016
- 2017
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In: European Archives of Oto-Rhino-Laryngology. - : Springer Science and Business Media LLC. - 0937-4477 .- 1434-4726. ; 274:10, s. 3711-3722
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Journal article (peer-reviewed)abstract
- The objective of this study was to describe factors affecting pain after pediatric tonsil surgery, using patient reported pain-related outcome measures (pain-PROMs) from the National Tonsil Surgery Register in Sweden. In total, 32,225 tonsil surgeries on children (1 to < 18 years) during 2009-2016 were included; 13,904 tonsillectomies with or without adenoidectomy (TE +/- A), and 18,321 tonsillotomies with or without adenoidectomy (TT +/- A). Adjustments were made for variables included in the register to compensate for contributable factors in the analysis. When compared to TE +/- A for surgical indication obstruction, TT +/- A resulted in lower pain-PROMs, shorter use of postoperative analgesics, earlier return to regular food intake, and lower risk for contact with health care services due to pain. Children who underwent TE +/- A because of obstruction problems stopped taking painkillers and returned to normal eating habits sooner, compared to children who underwent TE +/- A for infectious indications. In both indication groups, TE +/- A performed with hot rather than cold technique (dissection and haemostasis) generally resulted in higher pain-PROMs. Older children reported more days on analgesics and a later return to regular food intake after TE +/- A than younger ones. No clinically relevant difference between sexes was found. Between 2012 and 2016 (pre-and post-implementation of Swedish national guidelines for pain treatment), the mean duration of postoperative analgesic use had increased. In conclusion, TE +/- A caused considerably higher ratings of pain-related outcome measures, compared to TT +/- A. For TE +/- A, cold surgical techniques (dissection and haemostasis) were superior to hot techniques in terms of pain-PROMs. Older children reported higher pain-PROMs after TE +/- A than younger ones.
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| 6. |
- Flynn, Traci, 1973, et al.
(author)
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The high prevalence of otitis media with effusion in children with cleft lip and palate as compared to children without clefts
- 2009
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In: International Journal of Pediatric Otorhinolaryngology. - Amsterdam : Elsevier Biomedical. - 0165-5876 .- 1872-8464. ; 73:10, s. 1441-1446
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Journal article (peer-reviewed)abstract
- OBJECTIVES: Children with cleft lip and palate universally present with otitis media with effusion. This prevalence has not been systematically studied. The purpose of the present study was to examine and compare the prevalence of otitis media with effusion, hearing sensitivity, and audiometry method utilised for assessment in children with and without clefts. METHODS: Two groups of children (children with unilateral cleft lip and palate, N=22, and children without clefts, N=20) were followed prospectively and longitudinally from 1 to 5 years of age. Data were collected at four points (1, 1.5, 3, and 5 years of age). Assessments at each of the four points included: (1) otomicroscopy, (2) tympanometry, and (3) hearing assessment. RESULTS: Overall the children with unilateral cleft lip and palate demonstrated a significantly higher prevalence of otitis media with effusion (121 ears, 74.7%) than children without clefts (31 ears, 19.4%) (p<0.001). This higher prevalence was also significant at 1, 1.5, 3, and 5 years of age (p<0.001). Of those ears with otitis media with effusion, 83.1% of the ears exhibited a hearing loss (PTA >20dB), with this loss more prevalent in the cleft group (89.7% UCLP and 70.0% non-cleft). The hearing loss was significantly more pronounced in the cleft (group 35.71dB HL UCLP and 26.41dB HL non-cleft group). Children with unilateral cleft lip and palate utilised a lower age-appropriate audiometry testing method than age-matched children with no cleft at 1, 1.5, and 3 years of age. CONCLUSIONS: Children with unilateral cleft lip and palate present with a significantly higher prevalence of otitis media with effusion than children without cleft. Also, the hearing loss associated with otitis media with effusion is demonstrated in this study. Furthermore, the method of audiometry has been examined and children with unilateral cleft lip and palate had to be assessed with a lower level of method than children without cleft.
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| 7. |
- Hessén-Söderman, Anne-Charlotte, et al.
(author)
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Post-tonsillectomy haemorrhage rates are related to technique for dissection and for haemostasis : an analysis of 15734 patients in the National Tonsil Surgery Register in Sweden
- 2015
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In: Clinical Otolaryngology. - : Wiley. - 1749-4478 .- 1365-2273. ; 40:3, s. 248-254
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Journal article (peer-reviewed)abstract
- Objectives: To analyse post-tonsillectomy haemorrhage(PTH) rates related to technique for dissection and haemostasis.Study Design: Register study from the National TonsilSurgery Register in Sweden (NTSRS).Methods: All patients, subjected to tonsillectomy (TE)without adenoidectomy from 1 March 2009 to 26 April 2013,were included in the study. The surgeon reports data abouttechnique and early PTH, while late PTH is reported by thepatient in a questionnaire 30 days after surgery.Results: 15734 patients with complete data concerningtechnique for dissec tion and for haemostasis were identifiedin the NTSRS. Techniques used were cold steel dissectionwith uni- or bipolar diathermy haemostasis (65.3%),diathermy scissors (15.7%), coblation (9.1%), cold steeldissection with cold haemostasis (7.4%) and ultrascision(2.5%). Early and late PTH were reported in 3.2% and 9.4% of the cases, respectively, and return to theatre (RTT) in2.7%. The rat es for PTH and RTT related to technique wereanalysed. Compared with cold dissection+ cold haemostasis,late PTH rate was 2.8 times higher after cold dissection + hothaemostasis, 3.2 times higher after coblation, 4.3 timeshigher after diathermy scissors and 5.6 times higher afterultrascision. The risk for RTT was higher for all hottechniques except for coblation, while ultrascision resultedin a lower risk for early PTH.Conclusions: All hot techniques resulted in a higher risk forlate PTH compared with cold steel dissection +coldhaemostasis. The risk for RTT was higher for all hottechniques except for coblation, while ultrascision resultedin a lower risk for early PTH. An early PTH was associatedwith an increased risk for late PTH.
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| 8. |
- Willadsen, E., et al.
(author)
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Inter-rater reliability in classification of canonical babbling status based on canonical babbling ratio in infants with isolated cleft palate randomised to Timing of Primary Surgery for Cleft Palate (TOPS)
- 2023
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In: Clinical Linguistics & Phonetics. - : Informa UK Limited. - 0269-9206 .- 1464-5076. ; 37:1, s. 77-98
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Journal article (peer-reviewed)abstract
- Canonical babbling (CB) is commonly defined as present when at least 15% of all syllables produced are canonical, in other words a canonical babbling ratio (CBR) >= 0.15. However, there is limited knowledge about inter-rater reliability in classification of CB status based on CBR and inter-rater differences in assessment of CBR. We investigated inter-rater reliability of experienced Speech Language Therapists (SLTs) on: classification of CB status based on CBR >= 0.15, CBRs and the total number of syllables per infant used to calculate CBR. Each infant (n = 484) was video-recorded at a clinical site in play interaction with their parent as part of the randomised controlled trial Timing of Primary Surgery for Cleft Palate. Each recording was subsequently assessed by three independent SLTs, from a pool of 29 SLTs. They assessed the recordings in real time. The three assessing SLTs agreed in classification of CB status in 423 (87.4%) infants, with higher complete agreement for canonical (91%; 326/358) than non-canonical (77%; 97/126). The average difference in CBR and total number of syllables identified between the SLT assessments of each infant was 0.12 and 95, respectively. This study provided new evidence that one trained SLT can reliably classify CB status (CBR >= 0.15) in real time when there is clear distinction between the observed CBR and the boundary (0.15); however, when the observed CBR approaches the boundary multiple SLT assessments are beneficial. Thus, we recommend to include assessment of inter-rater reliability, if the purpose is to compare CBR and total syllable count across infants or studies.
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| 9. |
- 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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| 10. |
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