Search

Structural analyses through SDS-PAGE, electron microscopy, thioflavin T and congo red staining were done to characterize two highly amyloidogenic mutants of transthyretin (TTR) with substituted or deleted position 53-55. Results have shown that the mutations have lead to unstable protein molecules secondary to conformational changes resulting to faster initiation of self-aggregation.

Background: The risks of developmental language disorder (DLD) for both educational progress and socio-emotional development are well documented, but little is known about how children and young people with DLD experience and describe their language and communication. The need to complement experimental and quantitative studies with qualitative perspectives of the lived experience of individuals with DLD for speech and language therapists (SLT) practice has recently been foregrounded., Aims: To understand further the experiences of young people with DLD focusing on language and communication in a school context, and thereby contribute to the improvement of the communicative situation in school for this group. The study is guided by the following research question: How do young people diagnosed with DLD describe their experiences of language and communication in school?, Methods & Procedures: The study is based on data generated from qualitative semi-structured interviews with 23 participants diagnosed with DLD (age 13-19 years old) living in Sweden. All participants attended mainstream schools. To enable data to be collected during COVID-19 restrictions, all interviews were conducted using Zoom. Reflexive thematic analysis was used to analyse the data., Outcomes & Results: Four main themes related to experiences of language and communication in school were constructed from the interviews: (1) feelings of inadequacy and comparisons with others; (2) feelings of being misjudged and misunderstood; (3) the importance of feeling safe and comfortable; and (4) the significance of the social and communicative context. The results bear witness of difficult and challenging aspects related to language and communication in school, including educational, social and emotional dimensions. An important outcome of this study is how young people diagnosed with DLD describe their language and communication functioning to be dependent on both individual characteristics and abilities, as well as situational, contextual and social factors., Conclusions & Implications: The results from this study show that young people with DLD can have persisting problems related to language and communication in school, including educational, social and emotional dimensions. SLT services may therefore be needed throughout the school years to ensure that students with DLD receive adequate support. In addition, support that goes beyond language abilities and targets social, contextual and emotional aspects should be considered., What This Paper Adds: What is already known on this subject Children and young people have unique knowledge about their language and communication which is instrumental for designing interventions and support strategies. Qualitative analyses of interview data have been able to identify both risk factors and protective strategies in relation to the well-being of individuals with DLD. Despite this, children and young people with DLD are rarely heard in research or clinical discussions. What this paper adds to existing knowledge In this study we listen to the voices of young people with DLD as they describe their experiences of language and communication in school. The participants describe a condition that makes them struggle to keep up with peers and puts them at risk of being misjudged by teachers, but also give examples of situations where negative consequences are hardly felt. What are the potential or actual clinical implications of this work? DLD is a complex and dynamic disorder where contextual and social factors interact with individual abilities in creating the end result. The results of the study indicate that DLD can cause persisting problems related to language and communication in school, with impact on educational, social and emotional dimensions. To counteract these effects, SLT services may be needed throughout the school years, and support that goes beyond language abilities must be considered., (© 2023 The Authors. International Journal of Language & Communication Disorders published by John Wiley & Sons Ltd on behalf of Royal College of Speech and Language Therapists.)

Background: Continued professional development (CPD) is required for updated skills and knowledge. This study evaluates the efficacy of a CPD programme for mainstream school teachers., Aims: In an 11-week intervention programme, speech-language therapists (SLTs) presented the participating teachers with whole-class teaching techniques aimed at creating a language and communication-supporting classroom environment. The effects of the intervention on the language development of the students in the teachers' classes were assessed., Methods & Procedures: A total of 211 first- and second-year students (M age = 7;6, range = 6;5-8;9) underwent standardized language assessments of receptive and expressive language abilities before and after their teachers' participation in the CPD. The students were divided into intervention and delayed intervention groups to enable randomized intervention allocation. Linear mixed modelling was used to estimate the individual and interaction effects of group, time and demographic factors., Outcomes & Results: Significant effects of time, group and school, respectively, but no interaction between time and group indicates that while all students advanced between assessments, the progress was not attributable to the teachers' participation in the CPD., Conclusions & Implications: Results are discussed in light of those of recent studies of universal services to support optimal language development., What This Paper Adds: What is already known on this subject Although inconclusive, previous research indicates that intervention delivered to teachers by SLTs has the potential to improve the language abilities of the students in the teachers' classrooms. What this paper adds to existing knowledge This study explored the language development of first- and second-year mainstream school students whose teachers took part in a CPD programme aimed at establishing language and communication-supporting teaching techniques. Results indicate that the development of the students' language abilities could not be attributed to the teachers' participation in the CPD. What are the potential or actual implications of the work? SLTs are often asked to guide teachers and teaching staff rather than themselves conduct individual assessments and interventions. The results of this trial can be used to inform the discussion on how to prioritize between tasks., (© 2022 The Authors. International Journal of Language & Communication Disorders published by John Wiley & Sons Ltd on behalf of Royal College of Speech and Language Therapists.)

Purpose: Vocabulary relates to overall language proficiency and is important for academic success. Word definition (WD) tasks can be used to assess vocabulary depth and definition skills. We investigate monolingual and bilingual children's performances on a WD task, and how bilingualism, level of parental education, school characteristics (proportion of students with Swedish as second language and proportion of parents with tertiary education), CELF-4 Core Language Score, and non-verbal IQ contribute to their performance. We also evaluate the level of difficulty of the test items and the test's internal consistency. Method: Two hundred and eight children (mean age 7:8, range 6:8-9:0) were assessed with a 10-item WD task. Amount of information included in the definitions gave the WD score and number of words with at least partially correct information gave a Word knowledge score. Result: The bilingual group had lower scores on both measures. In isolation bilingualism explained 15% of the variance of the WD score. With all background factors included, the only significant predictor was CELF-4 Core Language Score, uniquely explaining 24.3% of the variance. Response patterns on the WD score were similar between groups. Internal consistency was > α = 0.7 for both measurements. Conclusion: Bilingual children performed lower than monolingual children on a WD task, but bilingualism alone cannot explain poor results.

Purpose: Learning new vocabulary has been identified as a challenge for students with (developmental) language disorder ((D)LD). In this study, we evaluate the effects of two active learning methods, (a) retrieval practice (RP) and (b) rich vocabulary instruction (RVI), in a group of students with (D)LD in secondary school., Method: A quasi-experimental counterbalanced within-subject design was used to compare and evaluate the effect of RP and RVI on learning Tier 2 vocabulary, with target and control words as dependent measures. Eleven students with (D)LD ( M age = 14.9 years) attending a language unit participated. RP and RVI were implemented in regular classroom activities during 16 lessons (eight lessons/instructional condition). Learning was assessed by comparing performance on a pretest session 1-2 weeks prior, with posttest performance 1 week after each instructional condition., Results: The learning gain for RP was superior to that for RVI, both with respect to the Bayesian probabilistic estimations for target words relative to control words and in direct comparison with RVI. Only weak evidence was found for RVI with respect to the Bayesian probabilistic estimations for target words relative to control words., Conclusions: All participants showed positive learning gains following RP, whereas the outcome for RVI was more diverse. This initial work suggests that RP promotes larger learning gains relative to RVI and promotes learning across language profiles. This study extends previous studies by exploring the implementation of RP in regular classroom activities and by using more complex to-be-learned material (Tier 2 words).

We examined word associations in Swedish children with Developmental Language Disorder (DLD) compared to their typically developing (TD) peers. Furthermore, the study aimed to explore the dimensions of vocabulary knowledge (breadth, depth, and fluency) in these children. Fifty children (15 DLD and 35 TD) participated in the study, aged six to nine years. This age span is commonly associated with substantial lexical reorganisation, by some referred to as the syntagmatic-paradigmatic shift. Fifty items from the Kent-Rosanoff list were used to elicit word associations (say the first word that comes to mind). Word associations were coded as paradigmatic (lion-tiger), syntagmatic (chair-sit), phonological (moon-poon), and other/no answer (foot-hello/bed- -). A semantic depth score (paradigmatic and syntagmatic associations) was calculated and analysed. The children with DLD showed significantly lower semantic depth scores than their TD peers, in line with previous research in English-speaking children. However, the vocabulary dimensions were uniformly affected for the DLD group, contradicting previous findings of semantic depth as a particular area of weakness in this group.

Background: The impact of hearing loss on the individual and his/her everyday life can be assessed using questionnaires with the purpose to improve rehabilitation quality. The Abbreviated Profile of Hearing Aid Benefit (APHAB) can be used to evaluate disability in everyday life associated with hearing loss. Previous studies have examined APHAB outcomes in sensorineural hearing loss and we do not know whether the type of hearing loss influence questionnaire outcomes., Purpose: The purpose was to evaluate the psychometric properties of a Swedish translation of the APHAB and the influence of demographic variables on the outcome in a clinical sample., Research Design: A descriptive, cross-sectional study in a clinical sample., Study Sample: Forty-eight participants with no hearing aid experience seeking audiological rehabilitation for the first time. These participants represented different degrees of hearing loss and three types of hearing loss: monaural mixed, binaural mixed, and binaural sensorineural hearing loss., Data Collection and Analysis: Pure-tone audiometry was conducted and the participants completed the unaided APHAB during their first appointment at the clinic. Psychometric properties of the questionnaire were examined and the influence of age, gender, type of hearing loss, and degree of hearing loss on APHAB scores were studied., Results: The psychometric properties indicate high test-retest reliability but there seems to be some potential issues with the properties of the reverberation (RV) subscale. The items from the RV subscale failed to load as a separate component and the internal consistency of the subscale improved by removing four items (items 1, 9, 11, and 16). With few exceptions, APHAB scores were not influenced by age, gender, or type of hearing loss. APHAB scores were generally influenced by degree of hearing loss in both the best and the worst ear., Conclusion: This Swedish version of the APHAB can be additionally improved by addressing the inconsistencies found in the RV subscale by rephrasing or removing some items. The degree of hearing loss has some influence on questionnaire outcomes but not age, gender, and type of hearing loss., Competing Interests: None., (American Academy of Audiology. This article is published by Thieme.)

Purpose: Children's results on school-related achievements tests, such as aspects of math, reading and writing, have been shown to decline following a lengthy summer vacation. Few studies have investigated whether this also applies to vocabulary skills. The purpose of this study is to investigate how lexical organization and retrieval, assessed by a semantic verbal fluency (SVF) task, develops during a lengthy summer vacation versus formal schooling. Method: Sixty-eight children with mean age of 7.9 (ranging from 6.5 to 9.1), were assessed pre- and post-summer vacation and post-fall semester using two SVF categories (Animals and Clothes). The number of words produced in both categories gave the total score. Results: The result of the SVF tests decreased following summer vacation. The loss was recouped at the post-fall semester assessment, but no gains compared to initial testing were shown. Neither level of parental education, general language ability, non-verbal IQ, nor bilingualism explained the variance in development during the summer vacation or the fall semester. Conclusions: Our findings indicate that a lengthy summer vacation causes a recess in the expected development of SVF ability and that this recess is recouped after a semester of formal schooling. The findings are in line with previous research indicating that summer vacation may have negative impact on the development of important scholastic abilities in children.

Assessment of bilingual children in only one language fails to acknowledge their distributed linguistic competence and has been shown to overidentify language disorder in bilingual populations. However, other factors, sometimes associated with bilingualism, may also contribute to low results in language assessments. Our aim was to examine the impact of these factors on language abilities. We used the Clinical Evaluation of Language Fundamentals - Fourth Edition, Swedish (CELF-4) to investigate core language abilities of 224 7- to 8-year-old children. Results showed 30 and 80% of monolinguals and bilinguals, respectively, performing more than 1 SD below the normative sample mean, calling into question the clinical utility of the test. However, participant and school characteristics provided a deeper understanding of the skewed results. In isolation, bilingualism predicted 38% of the variance in the CELF-4 Core scores. With level of parental education entered the variance explained by the model increased to 52%, but the unique contribution of bilingualism was reduced to 20%. Finally, with information added on school characteristics and enrollment in the school's recreation center the model explained an additional two percent, with the unique contribution of bilingualism further reduced to 9%. The results indicate an increased risk for low results on the CELF-4 Core when children present with multiple risk factors. This highlights the need to look beyond bilingualism in language assessment of bilingual children and adolescents and to consider other explanations to academic struggle. Available interventions must be considered and applied proportionately to their respective impact on the individual's development.

Purpose: Inherited retinal dystrophies (IRDs) represent a group of progressive conditions affecting the retina. There is a great genetic heterogeneity causing IRDs, and to date, more than 260 genes are associated with IRDs. Stargardt disease, type 1 (STGD1) or macular degeneration with flecks, STGD1 represents a disease with early onset, central visual impairment, frequent appearance of yellowish flecks and mutations in the ATP-binding cassette subfamily A, member 4 (ABCA4) gene. A large number of intronic sequence variants in ABCA4 have been considered pathogenic although their functional effect was seldom demonstrated. In this study, we aimed to reveal how intronic variants present in patients with Stargardt from the same Swedish family affect splicing., Methods: The splicing of the ABCA4 gene was studied in human embryonic kidney cells, HEK293T, and in human retinal pigment epithelium cells, ARPE-19, using a minigene system containing variants c.4773+3A>G and c.5461-10T>C., Results: We showed that both ABCA4 variants, c.4773+3A>G and c.5461-10T>C, cause aberrant splicing of the ABCA4 minigene resulting in exon skipping. We also demonstrated that splicing of ABCA4 has different outcomes depending on transfected cell type., Conclusion: Two intronic variants c.4773+3A>G and c.5461-10T>C, both predicted to affect splicing, are indeed disease-causing mutations due to skipping of exons 33, 34, 39 and 40 of ABCA4 gene. The experimental proof that ABCA4 mutations in STGD patients affect protein function is crucial for their inclusion to future clinical trials; therefore, functional testing of all ABCA4 intronic variants associated with Stargardt disease by minigene technology is desirable., (© 2018 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.)

Background: Outcome- or competency-based education is well established in medical and health sciences education. Curricula are based on courses where students develop their competences and assessment is also usually course-based. Clinical reasoning is an important competence, and the aim of this study was to monitor and describe students' progression in professional clinical reasoning skills during health sciences education using observations of group discussions following the case method., Methods: In this qualitative study students from three different health education programmes were observed while discussing clinical cases in a modified Harvard case method session. A rubric with four dimensions - problem-solving process, disciplinary knowledge, character of discussion and communication - was used as an observational tool to identify clinical reasoning. A deductive content analysis was performed., Results: The results revealed the students' transition over time from reasoning based strictly on theoretical knowledge to reasoning ability characterized by clinical considerations and experiences. Students who were approaching the end of their education immediately identified the most important problem and then focused on this in their discussion. Practice knowledge increased over time, which was seen as progression in the use of professional language, concepts, terms and the use of prior clinical experience. The character of the discussion evolved from theoretical considerations early in the education to clinical reasoning in later years. Communication within the groups was supportive and conducted with a professional tone., Conclusions: Our observations revealed progression in several aspects of students' clinical reasoning skills on a group level in their discussions of clinical cases. We suggest that the case method can be a useful tool in assessing quality in health sciences education.

The clinical assessment of language impairment (LI) in bilingual children imposes challenges for speech-language pathology services. Assessment tools standardized for monolingual populations increase the risk of misinterpreting bilingualism as LI. This Perspective article summarizes recent studies on the assessment of bilingual LI and presents new results on including non-linguistic measures of executive functions in the diagnostic assessment. Executive functions shows clinical utility as less subjected to language use and exposure than linguistic measures. A possible bilingual advantage, and consequences for speech-language pathology practices and future research are discussed.

Corneal dystrophies are a clinically and genetically heterogeneous group of inherited disorders that bilaterally affect corneal transparency. They are defined according to the corneal layer affected and by their genetic cause. In this study, we identified a dominantly inherited epithelial recurrent erosion dystrophy (ERED)-like disease that is common in northern Sweden. Whole-exome sequencing resulted in the identification of a novel mutation, c.2816C>T, p.T939I, in the COL17A1 gene, which encodes collagen type XVII alpha 1. The variant segregated with disease in a genealogically expanded pedigree dating back 200 years. We also investigated a unique COL17A1 synonymous variant, c.3156C>T, identified in a previously reported unrelated dominant ERED-like family linked to a locus on chromosome 10q23-q24 encompassing COL17A1. We show that this variant introduces a cryptic donor site resulting in aberrant pre-mRNA splicing and is highly likely to be pathogenic. Bi-allelic COL17A1 mutations have previously been associated with a recessive skin disorder, junctional epidermolysis bullosa, with recurrent corneal erosions being reported in some cases. Our findings implicate presumed gain-of-function COL17A1 mutations causing dominantly inherited ERED and improve understanding of the underlying pathology., (© 2015 WILEY PERIODICALS, INC.)