OASES-itsearviointilomakkeiden suomennosten validiteetti ja reliabiliteetti

The Overall Assessment of the Speaker´s Experience of Stuttering (OASESTM; Yaruss & Quesal,2016) is a patient-reported outcome measure that was designed to provide a comprehensiveassessment of “the experience of the stuttering disorder from the perspective of individualswho stutter” (Yaruss & Quesal, 2006, p. 90). The aim of the present study was to evaluate thevalidity and reliability of the authorized Finnish adaptations of the OASES-S (for school-agechildren, ages 7-12), OASES-T (for teens, ages 13-17), and the OASES-A (for adults ages18 and above). In this research, 60 school-aged children completed the OASES-S responseforms with 60 statements, 31 teenagers completed the OASES-T response forms with 80statements, and 31 adults completed the OASES-A response forms with 100 statements.The analyses of external (age), construct (correlation between different sections) and content(descriptive comparison between the Finnish and English OASES scores) validity indicatedthat the Finnish OASES questionnaires are valid measures. The age of the participant didnot have an effect on the results indicating good external validity. The mean scores weredescriptively close to those of the English version. Internal consistency and re-test reliabilitieswere high for both measures. The alpha scores of the OASES-S, OASES-T and OASES-Awere high (α 0,82–0,95) indicating good internal consistency. Similarly test-retest reliabilitydemonstrated high consistency of responses (r = 0,65–0,97) from one administration tothe next, except for the OASES-A Part I (General information). To conclude, the FinnishOASES-S, OASES-T and OASES-A validly and reliably measure the impact of stuttering onthe Finnish children, teenagers, and adults. The titles of the impact ratings may be changedto equal to the Finnish clinical terminology. Moreover, further research is needed on thecultural differences of the experience of stuttering and the assessment of the experience toget the measures more sensitive for different cultures.Overall Assessment of the Speaker´s Experience of Stuttering (OASESTM; Yaruss & Quesal, 2016) -itsearviointimenetelmä mittaa änkyttävän henkilön kokemuksia änkytyksestä hänen omasta näkökulmastaan. Tutkimuksemme tavoitteena oli arvioida alakouluikäisten OASES-S-, nuorten OASES-T- ja aikuisten OASES-A-itsearviointimenetelmän suomennosten pätevyyttä (validiteettia) ja luotettavuutta (reliabiliteettia). Tutkimuksessa 60 änkyttävää lasta täytti OASES-S:n (60 kysymystä), 31  änkyttävää nuorta OASES-T:n (80 kysymystä) ja 31 änkyttävää aikuista OASES-A:n (100 kysymystä). Mittareiden ulkoinen validiteetti, rakennevaliditeetti ja sisällön validiteetti todettiin hyväksi, joten itsearviointilomakkeet arvioivat pätevästi vastaajien kokemusta änkytyksen vaikutuksesta elämänlaatuun. Eri ikäisille suunnattujen itsearviointilomakkeiden alfakertoimet olivat korkeat (α 0,82–0,95) osoittaen hyvää sisäistä konsistenssia, ja mittaustulosten pysyvyys oli hyvä (r = 0,65– 0,97), lukuun ottamatta OASES-A:n osaa yleiset tiedot. Tutkimus osoitti, että suomennetut OASES-itsearviointilomakkeet erottelevat änkyttävien ihmisten kokemuksia änkytyksen vaikutuksesta heidän elämänlaatuunsa pätevyyden lisäksi luotettavasti. Vaikutuksen luokitukset olisi kuitenkin hyvä muuttaa suomalaisen kliinisen käytänteen mukaisiksi. Lisätutkimuksia tarvitaan kulttuurierojen vaikutuksesta änkytyksen kokemukseen ja sen itsearviointiin arviointimenetelmien sensitiivisyyden parantamiseksi

Effectiveness of speech therapy in treating vocal blocking tics in children with Tourette syndrome : Two case reports

Tourette syndrome is characterized by at least two motor tics and one vocal tic, which persist for over a year. Infrequently, tics can manifest as blocking tics in speech when they prevent a person from starting to speak or interrupt their speech flow. Vocal blocking tics (VBTs) resemble stuttering, and they can be difficult to differentiate from each other. A previous report described two patients with severe VBTs who did not benefit from stuttering-therapy-based speech therapy and were treated effectively with cannabis-based medicine. Here, we present the cases of two patients, seven- and nine-year-old boys, who benefited from speech therapy in which stuttering therapy techniques were used. Detailed descriptions of the interventions are included. Further research is needed to test the effectiveness of speech therapy in treating VBTs in a larger group of children with Tourette syndrome.Peer reviewe

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer

Uterine leiomyomata (fibroids) are common and clinically important tumors, but little is known about their etiology and pathogenesis. We previously mapped a gene that predisposes to multiple fibroids, cutaneous leiomyomata and renal cell carcinoma to chromosome 1q42.3-q43 (refs 4-6). Here we show, through a combination of mapping critical recombinants, identifying individuals with germline mutations and screening known and predicted transcripts, that this gene encodes fumarate hydratase, an enzyme of the tricarboxylic acid cycle. Leiomyomatosis-associated mutations are predicted to result in absent or truncated protein, or substitutions or deletions of highly conserved amino acids. Activity of fumarate hydratase is reduced in lymphoblastoid cells from individuals with leiomyomatosis. This enzyme acts as a tumor suppressor in familial leiomyomata, and its measured activity is very low or absent in tumors from individuals with leiomyomatosis. Mutations in FH also occur in the recessive condition fumarate hydratase deficiency, and some parents of people with this condition are susceptible to leiomyomata. Thus, heterozygous and homozygous or compound heterozygous mutants have very different clinical phenotypes. Our results provide clues to the pathogenesis of fibroids and emphasize the importance of mutations of housekeeping and mitochondrial proteins in the pathogenesis of common types of tumor

The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling

Homozygosity for the G allele of rs6983267 at 8q24 increases colorectal cancer (CRC) risk approximately 1.5 fold. We report here that the risk allele G shows copy number increase during CRC development. Our computer algorithm, Enhancer Element Locator (EEL), identified an enhancer element that contains rs6983267. The element drove expression of a reporter gene in a pattern that is consistent with regulation by the key CRC pathway Wnt. rs6983267 affects a binding site for the Wnt-regulated transcription factor TCF4, with the risk allele G showing stronger binding in vitro and in vivo. Genome-wide ChIP assay revealed the element as the strongest TCF4 binding site within 1 Mb of MYC. An unambiguous correlation between rs6983267 genotype and MYC expression was not detected, and additional work is required to scrutinize all possible targets of the enhancer. Our work provides evidence that the common CRC predisposition associated with 8q24 arises from enhanced responsiveness to Wnt signaling

Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata

Uterine leiomyomata (UL) are the most common tumours of the female genital tract and the primary cause of surgical removal of the uterus. Genetic factors contribute to UL susceptibility. To add understanding to the heritable genetic risk factors, we conduct a genome-wide association study (GWAS) of UL in up to 426,558 European women from FinnGen and a previous UL meta-GWAS. In addition to the 50 known UL loci, we identify 22 loci that have not been associated with UL in prior studies. UL-associated loci harbour genes enriched for development, growth, and cellular senescence. Of particular interest are the smooth muscle cell differentiation and proliferation-regulating genes functioning on the myocardin-cyclin dependent kinase inhibitor 1A pathway. Our results further suggest that genetic predisposition to increased fat-free mass may be causally related to higher UL risk, underscoring the involvement of altered muscle tissue biology in UL pathophysiology. Overall, our findings add to the understanding of the genetic pathways underlying UL, which may aid in developing novel therapeutics.Peer reviewe