Communication in Persons with Acquired Speech Impairment: The Role of Family as Language Brokers

The authors report the first case of a strikingly unusual speech impairment evoked by intraoperative electrostimulation in a 36-year-old right-handed patient, a well-trained singer, who underwent awake surgery for a right fronto-temporo-insular low-grade glioma. Functionally disrupting the pars opercularis of the right inferior frontal gyrus led the patient to automatically switch from a speaking to a singing mode of language production. Given the central role of the right pars opercularis in the inhibitory control network, the authors propose that this finding may be interpreted as possible evidence for a competitive and independent neurocognitive subnetwork devoted to the melodically intoned articulation of words (normal language-based vs singing-based) in subjects with high expertise. From a more clinical perspective, such data may have implications for awake neurosurgery, especially to preserve the quality of life for singers.

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Right thalamic lacunar infarction presenting with anomic aphasia

International Journal on Disability and Human Development ◽

10.1515/ijdhd-2014-0008 ◽

2015 ◽

Vol 14 (2) ◽

Author(s):

Naveed Natanzi ◽

Sogol Ashourpour ◽

Pedram Goel ◽

Patricia W. Nance

Keyword(s):

Temporal Lobe ◽

Cognitive Deficits ◽

Medical Literature ◽

Parietal Lobe ◽

Speech Impairment ◽

Subcortical Structures ◽

Thalamic Infarction ◽

Crossed Aphasia ◽

Over Time

AbstractWe present two cases of thalamic infarction presentation with aphasia, which has rarely been documented in the literature. Of interest, the second case presented with a lesion in the non-dominant thalamus, which made the finding of speech impairment exceedingly rare. Anomic aphasia has been associated with lesions to the basal temporal lobe, anterior inferior temporal lobe, temporo-parieto-occipital junction and the inferior parietal lobe, but rarely in association with the thalamus. Thalamic strokes most often present with motor, sensory, and cognitive deficits; few reports in the medical literature associate aphasia with a thalamic infarction. Possible explanations include crossed aphasia, diaschisis, the hypometabolic theory, and the thalamus as a secondary language center. Our findings may hint to a relationship among language, higher cognitive function, subcortical structures, and interhemispheric connections that are yet to be understood completely. We postulate that an increasingly important role of subcortical neuronal structures in cognitive functions will be recognized as diagnostic imaging technology improves over time.

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Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder

10.1101/2021.05.31.21257832 ◽

2021 ◽

Author(s):

Francesca Mattioli ◽

Hossein Darvish ◽

Sohail Aziz Paracha ◽

Abbas Tafakhori ◽

Saghar Ghasemi Firouzabadi ◽

...

Keyword(s):

Intellectual Disability ◽

Mouse Model ◽

Autosomal Recessive ◽

High Throughput Sequencing ◽

Neurodevelopmental Disorder ◽

Behavioral Changes ◽

Causative Role ◽

Speech Impairment ◽

Lipid Flippase

Intellectual disability (ID) is a highly heterogeneous disorder with hundreds of associated genes. Despite progress in the identification of the genetic causes of ID following the introduction of high-throughput sequencing, about half of affected individuals still remain without a molecular diagnosis. Consanguineous families with affected individuals provide a unique opportunity to identify novel recessive causative genes. In this report we describe a novel autosomal recessive neurodevelopmental disorder. We identified two consanguineous families with homozygous variants predicted to alter the splicing of ATP9A which encodes a transmembrane lipid flippase of the class II P4-ATPases. The three individuals homozygous for these putatively truncating variants presented with severe ID, motor and speech impairment, and behavioral anomalies. Consistent with a causative role of ATP9A in these patients, a previously described Atp9a-/- mouse model showed behavioral changes.

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Children as Language Brokers

Childhood Studies ◽

10.1093/obo/9780199791231-0217 ◽

2019 ◽

Author(s):

Rachele Antonini

Keyword(s):

Family Relationships ◽

Minority Groups ◽

Research Question ◽

Well Being ◽

The Body ◽

North African ◽

Negative Effects ◽

Language And Culture ◽

Language Brokers

Child language brokering (CLB) is a widespread practice of linguistic and cultural mediation or brokering that is generally performed by the children of immigrant and minority groups and that takes place in all those domains that pertain to these families’ social and daily life. It is a very young topic of interest; hence the body of research and literature available on CLB is still limited and highly fragmented and discipline-based, and attempts at bringing together researchers with different disciplinary and methodological perspectives are quite recent. Nonetheless, the increased interest in this topic of study has contributed to make it a fully fledged and freestanding area of study. Until the mid-1970s, the study of CLB was never the primary research question, and any observation on its existence was considered a byproduct of research focusing on other topics and issues. In the 1980s, articles and essays describing this practice started appearing in a variety of journals and volumes from a wide array of disciplinary perspectives. In the mid-1990s, research on CLB gained momentum and shifted to other aspects and issues of CLB, namely, the who, what, and where of CLB and its positive and negative effects on the language brokers’ education, identity construction, and psychological well-being. These include parentification and adultification issues that emerge when children assume the role of the decision-maker in the family and that may have a significant impact on family relationships, the children’s acculturation and learning process, and their attitudes toward their native and/or second language and culture. The study of CLB in Europe was introduced in the late 1990s and was initially almost exclusively UK-based. Since the end of the 1990s, it has developed in other European countries too, by focusing on the communities that represent the largest migrant groups present in each country, like for instance Moroccan communities in Spain, North African and Italian immigrants in Germany, and a variety of immigrant groups in Italy. CLB is now a topic of research in, inter alia, anthropology, bi- and multilingualism studies, educational studies, interpreting and translation studies, sociolinguistics, and psychology.

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Translating People and Policy: The Role of Maid Agents in Brokering between Employers and Migrant Domestic Workers in Singapore’s Migration Industry

International Migration Review ◽

10.1177/0197918319897570 ◽

2020 ◽

Vol 54 (4) ◽

pp. 992-1015

Author(s):

Kellynn Wee ◽

Charmian Goh ◽

Brenda S.A. Yeoh

Keyword(s):

Migrant Workers ◽

Migrant Worker ◽

Domestic Workers ◽

Labor Migrants ◽

Labor Market Intermediaries ◽

International Labor ◽

Language Brokers ◽

Working And Living Conditions ◽

Migrant Domestic Workers

There has been a surge of recent interest in the migration industries that facilitate the movement of migrants, particularly that of low-waged laborers engaged in temporary contracts abroad. This article extends this research to include migration brokers working in destination contexts, thus drawing analytical attention to the arrival infrastructures that incorporate migrants into host societies. Based on ethnographic research involving the employment agents who recruit women migrating from Indonesia to work as migrant domestic workers in Singapore, we use the concept of “translation” as a broad theoretical metaphor to understand how brokers actively fashion knowledge between various actors, scales, interfaces, and entities. First, we argue that through the interpretation of language, brokers continually modulate meaning in the encounters between potential employers and employees at the agency shopfront, reproducing particular dynamics of power between employers and workers while coperforming the hirability of the migrant worker. Second, we show how brokers operate within the discretionary space between multiple sets of regulations in order to selectively inscribe the text of policy into migrant workers’ lives. By interrogating the process of translation and clarifying the latitude migration brokers have in shaping the working and living conditions of international labor migrants, the article contributes to the growing conceptual literature on how labor-market intermediaries contour migration markets.

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GDF6 Knockdown in a Family with Multiple Synostosis Syndrome and Speech Impairment

Genes ◽

10.3390/genes12091354 ◽

2021 ◽

Vol 12 (9) ◽

pp. 1354

Author(s):

Raymond A. Clarke ◽

Zhiming Fang ◽

Dedee Murrell ◽

Tabrez Sheriff ◽

Valsamma Eapen

Keyword(s):

Hearing Loss ◽

White Blood Cells ◽

Family Members ◽

Speech Impairment ◽

Tarsal Coalition ◽

Autosomal Dominant Disorder ◽

Primary Fibroblast ◽

The Family ◽

History Of

Multiple synostoses syndrome type 4 (SYNS4; MIM 617898) is an autosomal dominant disorder characterized by carpal-tarsal coalition and otosclerosis-associated hearing loss. SYSN4 has been associated with GDF6 gain-of-function mutations. Here we report a five-generation SYNS4 family with a reduction in GDF6 expression resulting from a chromosomal breakpoint 3′ of GDF6. A 30-year medical history of the family indicated bilateral carpal-tarsal coalition in ~50% of affected family members and acquired otosclerosis-associated hearing loss in females only, whereas vertebral fusion was present in all affected family members, most of whom were speech impaired. All vertebral fusions were acquired postnatally in progressive fashion from a very early age. Thinning across the 2nd cervical vertebral interspace (C2-3) in the proband during infancy progressed to block fusion across C2-7 and T3-7 later in life. Carpal-tarsal coalition and pisiform expansion were bilaterally symmetrical within, but varied greatly between, affected family members. This is the first report of SYNS4 in a family with reduced GDF6 expression indicating a prenatal role for GDF6 in regulating development of the joints of the carpals and tarsals, the pisiform, ears, larynx, mouth and face and an overlapping postnatal role in suppression of aberrant ossification and synostosis of the joints of the inner ear (otosclerosis), larynx and vertebrae. RNAseq gene expression analysis indicated >10 fold knockdown of NOMO3, RBMXL1 and NEIL2 in both primary fibroblast cultures and fresh white blood cells. Together these results provide greater insight into the role of GDF6 in skeletal joint development.

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An unusual case of deafness with speech impairment: lesson in diagnosis and management

The Journal of Laryngology & Otology ◽

10.1017/s0022215100132098 ◽

1995 ◽

Vol 109 (11) ◽

pp. 1085-1088 ◽

Cited By ~ 1

Author(s):

Rosalyn Davies ◽

Deepak Prashert ◽

Anne O'Sullivant

Keyword(s):

Hearing Impairment ◽

Unusual Case ◽

Critical Role ◽

Pure Tone Audiometry ◽

Subjective Response ◽

Speech Impairment ◽

Legal Case ◽

Significant Disability ◽

The Individual

AbstractHearing impairment can be the cause of significant disability and handicap. This medico-legal case demonstrates the need for accurate assessment of both the severity and type of hearing loss if the best clinical management is to be provided. In particular, the case identifies the critical role of additional, objective auditory testing when pure tone audiometry, which depends on the subjective response of the individual, is inconsistent or indicates severe hearing impairment.

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Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder

npj Genomic Medicine ◽

10.1038/s41525-021-00255-z ◽

2021 ◽

Vol 6 (1) ◽

Author(s):

Francesca Mattioli ◽

Hossein Darvish ◽

Sohail Aziz Paracha ◽

Abbas Tafakhori ◽

Saghar Ghasemi Firouzabadi ◽

...

Keyword(s):

Intellectual Disability ◽

Mouse Model ◽

Autosomal Recessive ◽

High Throughput Sequencing ◽

Neurodevelopmental Disorder ◽

Behavioral Changes ◽

Causative Role ◽

Speech Impairment ◽

Lipid Flippase

AbstractIntellectual disability (ID) is a highly heterogeneous disorder with hundreds of associated genes. Despite progress in the identification of the genetic causes of ID following the introduction of high-throughput sequencing, about half of affected individuals still remain without a molecular diagnosis. Consanguineous families with affected individuals provide a unique opportunity to identify novel recessive causative genes. In this report, we describe a novel autosomal recessive neurodevelopmental disorder. We identified two consanguineous families with homozygous variants predicted to alter the splicing of ATP9A which encodes a transmembrane lipid flippase of the class II P4-ATPases. The three individuals homozygous for these putatively truncating variants presented with severe ID, motor and speech impairment, and behavioral anomalies. Consistent with a causative role of ATP9A in these patients, a previously described Atp9a−/− mouse model showed behavioral changes.

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