Promoting Aphasia Awareness

The National Aphasia Association defines aphasia as an impairment of language, affecting the production or comprehension of speech and ability to write. This communication disorder is typically acquired after a brain injury resulting from an accident or stroke. Nearly 180,000 Americans acquire aphasia each year. Despite efforts to increase awareness about aphasia, via organizations such as the National Aphasia Association, general knowledge is still limited. In 2000 Elman and colleagues collected data on the number of news articles that mentioned the term “aphasia” and compared it to similar health conditions with comparable or lower prevalence rates. They found that these latter conditions have a significantly higher representation in US newspaper articles as compared to aphasia. We replicated Elman et al., (2000) to look at what has happened over the past two decades. Although we predicted the number of news articles on the topic would increase, we posited that awareness of aphasia would continue to be underrepresented relative to the other medical conditions. Our results confirmed this prediction and indicate a need for further research into ways we can increase public awareness, thereby lending support to people with aphasia and improving their quality of life

Language therapy effects on the treated and untreated languages of a multilingual person with aphasia

We administered language treatment in the first language of a multilingual person with aphasia and tested his skills pre- and post-treatment in his additional languages. We report improvement in object and action naming in the treated language (Catalan, the participant’s L1). Small cross-language generalization was found for Spanish, his highly-proficient, early-acquired, L2 as well as for English, his least-proficient language. Improvement was noted not only in items that were translation-equivalents of trained items but also of untrained items. Cognate status did not seem to influence the results

Age-related Differences in Idiom Production in Adulthood

To investigate whether idiom production was vulnerable to age-related difficulties, we asked 40 younger (ages 18–30) and 40 older healthy adults (ages 60–85) to produce idiomatic expressions in a story-completion task. Younger adults produced significantly more correct idiom responses (73%) than did older adults (60%). When older adults generated partially correct responses, they were less likely than younger participants to eventually produce the complete target idiom (old: 32%; young: 70%); first-word cues after initial failure to retrieve an idiom resulted in more correct idioms for older (24%) than younger (15%) participants. Correlations between age and idiom correctness were positive for the young group and negative for the older group, suggesting mastery of familiar idioms continues into adulthood. Within each group, scores on the Boston Naming Test correlated with performance on the idiom task. Findings for retrieving idiomatic expressions are thus similar to those for retrieving lexical items

Identification of ovule transcripts from the Apospory-Specific Genomic Region (ASGR)-carrier chromosome

<p>Abstract</p> <p>Background</p> <p>Apomixis, asexual seed production in plants, holds great potential for agriculture as a means to fix hybrid vigor. Apospory is a form of apomixis where the embryo develops from an unreduced egg that is derived from a somatic nucellar cell, the aposporous initial, via mitosis. Understanding the molecular mechanism regulating aposporous initial specification will be a critical step toward elucidation of apomixis and also provide insight into developmental regulation and downstream signaling that results in apomixis. To discover candidate transcripts for regulating aposporous initial specification in <it>P. squamulatum</it>, we compared two transcriptomes derived from microdissected ovules at the stage of aposporous initial formation between the apomictic donor parent, <it>P. squamulatum </it>(accession PS26), and an apomictic derived backcross 8 (BC₈) line containing only the Apospory-Specific Genomic Region (ASGR)-carrier chromosome from <it>P. squamulatum</it>. Toward this end, two transcriptomes derived from ovules of an apomictic donor parent and its apomictic backcross derivative at the stage of apospory initiation, were sequenced using 454-FLX technology.</p> <p>Results</p> <p>Using 454-FLX technology, we generated 332,567 reads with an average read length of 147 base pairs (bp) for the PS26 ovule transcriptome library and 363,637 reads with an average read length of 142 bp for the BC₈ovule transcriptome library. A total of 33,977 contigs from the PS26 ovule transcriptome library and 26,576 contigs from the BC₈ovule transcriptome library were assembled using the Multifunctional Inertial Reference Assembly program. Using stringent <it>in silico </it>parameters, 61 transcripts were predicted to map to the ASGR-carrier chromosome, of which 49 transcripts were verified as ASGR-carrier chromosome specific. One of the alien expressed genes could be assigned as tightly linked to the ASGR by screening of apomictic and sexual F₁s. Only one transcript, which did not map to the ASGR, showed expression primarily in reproductive tissue.</p> <p>Conclusions</p> <p>Our results suggest that a strategy of comparative sequencing of transcriptomes between donor parent and backcross lines containing an alien chromosome of interest can be an efficient method of identifying transcripts derived from an alien chromosome in a chromosome addition line.</p

NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum

Background: The nucleotide binding protein-like (NUBPL) gene was first reported as a cause of mitochondrial complex I deficiency (MIM 613621, 618242) in 2010. To date, only eight patients have been reported with this mitochondrial disorder. Five other patients were recently reported to have NUBPL disease but their clinical picture was different from the first eight patients. Here, we report clinical and genetic findings in five additional patients (four families).  Methods: Whole exome sequencing was used to identify patients with compound heterozygous NUBPL variants. Functional studies included RNA-Seq transcript analyses, missense variant biochemical analyses in a yeast model (Yarrowia lipolytica) and mitochondrial respiration experiments on patient fibroblasts.  Results: The previously reported c.815-27T>C branch-site mutation was found in all four families. In prior patients, c.166G>A [p.G56R] was always found in cis with c.815-27T>C, but only two of four families had both variants. The second variant found in trans with c.815-27T>C in each family was: C.311T>C [p.L104P] in three patients, c.693+1G>A in one patient and c.545T>C [p.V182A] in one patient. Complex I function in the yeast model was impacted by p.L104P but not p.V182A. Clinical features include onset of neurological symptoms at 3-18 months, global developmental delay, cerebellar dysfunction (including ataxia, dysarthria, nystagmus and tremor) and spasticity. Brain MRI showed cerebellar atrophy. Mitochondrial function studies on patient fibroblasts showed significantly reduced spare respiratory capacity.  Conclusion: We report on five new patients with NUBPL disease, adding to the number and phenotypic variability of patients diagnosed worldwide, and review prior reported patients with pathogenic NUBPL variants

Code-switching in multilingual aphasia

Introduction: This presentation addresses the post-intervention change in frequency and type of code switching (CS) in two of the weaker languages (Spanish and Norwegian) of a multilingual individual with mild aphasia who reported proficiency in 11 languages. CS is typical among multilingual speakers who share the same languages, although for multilingual people with aphasia, CS behavior may reflect word-finding difficulties (Ansaldo et al., 2010) or impairment of language control (Green & Abutalebi, 2013). Method: Our participant, a 64-year-old male who sustained a left CVA and subsequent aphasia 12 months prior to enrollment, was given two courses of intervention approximately six months apart. The first was a modified ORLA (oral reading for language in aphasia) treatment in his native Dutch (Flemish) of 30 hours over 6 weeks. The second “intervention” was a language-learning course in Russian of 40 hours over 4 weeks. The participant was tested three times on separate days for each baseline prior to and following each of the interventions in seven of his languages via Skype over a 5-6 day period. Results of two tasks are reported: an action-description task in which the participant described six individual action pictures with a sentence, and an answering-questions task that required a short response to six “wh” questions. Responses were analyzed for frequency and type of CS from pre to post testing. We differentiated “whole-word” CS (e.g., birthday/cumpleaños) from “within-word” CS (e.g., /livel/ blend of “level” and “nivel”) and compared the pattern of responses following each intervention for a change of over 15%. Results: Spanish: Post-Dutch intervention we noted an increased frequency of CS in both the action-description (25.4%) and answering-questions tasks (20.2%); this was accounted for largely by the relative change in whole-word CS type (action-description: 21.1% vs. 4.4% within and answering-questions: 37.3% vs. -17.1% within). Following Russian intervention, an increase in CS was evident, 50.8% for action description and 40.9% for answering questions, reflective of a within-word CS increase (action-description: 39.7%) and more evenly distributed for the latter task. For CS, the non-target language was primarily Italian. Norwegian: Following Dutch treatment, the proportion of code-switched responses remained the same for action description and answering questions. The type of CS changed with a decrease in whole-word CS (-19.1%) for the answering-questions task. Post-Russian intervention, no production differences were noted in CS frequency for action description, although within-word type increased (16.7%). On the answering-questions task, CS frequency decreased (-33%), particularly whole-word CS (-26%). Across baselines non-target whole- and within-word transfer included English, German, Danish, Swedish and Dutch. Discussion: We suggest the increase in CS in Spanish following treatment in Dutch and post-Russian language introduction likely reflects increased lexical inhibition. In contrast, in Norwegian, the proportion of code-switched responses decreased or remained the same and the proportion of within-word CS increased, suggestive of improved lexical access following both interventions. The contrasting effect (see Figure 1) may be due to relative proficiency (greater in Spanish than in Norwegian) or the differential lexical similarities between the target language and the language of intervention

The role of language proficiency and linguistic distance in cross-linguistic treatment effects in aphasia

Current findings from intervention in bilingual aphasia are inconclusive regarding the extent to which levels of language proficiency and degree of linguistic distance between treated and non-treated languages influence cross-language generalisation and changes in levels of language activation and inhibition following treatment. In this study, we enrolled a 65-year-old multilingual speaker with aphasia and administered treatment in his L1, Dutch. We assessed pre- and post-treatment performance for seven of his languages, five of high proficiency and two of lower proficiency. We asked whether treatment in L1 would generalise to his other languages or increase interference among them. Forty hours of treatment were completed over the course of five weeks. Each language was tested three times at pretreatment and at post-treatment. Testing included measures of narrative production, answering questions, picture description and question generation. Dependent measures examined language efficiency, defined as Correct Information Units (CIUs)/min, as well as language mixing, defined as proportion of code-mixed whole words. We found that our participant’s improved efficiency in Dutch was mirrored by parallel improvement in the four languages of high proficiency: English, German, Italian and French. In contrast, in his languages of lower proficiency, Norwegian and Spanish, improved efficiency was limited. An increase in code-mixing was noted in Spanish, but not in Norwegian. We interpret the increased code-mixing in Spanish as indication of heightened inhibition following improvement in a language of close linguistic proximity, Italian. We conclude that an interaction of language proficiency and linguistic similarity affects cross-language generalisation following intervention in multilingual aphasia