Deaf Siblings Research Articles

Metalinguistic Discourse in an Emerging Sign Language

In this paper, I explore metalinguistic discourse in Zinacantec Family Homesign (‘Z sign’), an emergent sign language developed by three deaf siblings and their hearing family members. In particular, I examine how metalinguistic discourse unfolds between a hearing Z signer and various members of her family—including her deaf siblings, her elderly hearing father, and her young hearing son. I do so via a close examination of several snippets of conversation in which the Z signers talk about the “right” way to sign, paying close attention to how they mobilize various semiotic devices, including manual signs, eye gaze, facial expressions, and speech. I aim to understand not only the formal components of metalinguistic discourse in Z sign but also how it functions as a form of social action in this small linguistic community. How do members of this family position themselves and others as (in)competent, (non-)authoritative signers in light of existing social divisions among them? How do they reinforce or challenge those social divisions through metalinguistic discourse? How might metalinguistic discourse contribute to the propagation of emergent linguistic norms throughout the family? I find that a recurrent device for enacting metalinguistic critique among the Z signers is the partial re-production and transformation of others’ utterances and other visible actions, manifested in a way that exploits the availability of multiple, semi-independent manual and non-manual articulators in the visual modality.

Abrupt grammatical reorganization of an emergent sign language

Abstract This study traces the development of discrete, combinatorial structure in Zinacantec Family Homesign (‘Z Sign’), a sign language developed since the 1970s by several deaf siblings in Mexico (Haviland 2020b), focusing on the expression of motion. The results reveal that the first signer, who generated a homesign system without access to language models, represents motion events holistically. Later-born signers, who acquired this homesign system from infancy, distribute the components of motion events over sequences of discrete signs. Furthermore, later-born signers exhibit greater regularity of form-meaning mappings and increased articulatory efficiency. Importantly, these changes occur abruptly between the first- and second-born signers, rather than incrementally across signers. This study extends previous findings for Nicaraguan Sign Language (Senghas et al. 2004) to a social group of a much smaller scale, suggesting that the parallel processes of cultural transmission and language acquisition drive language emergence, regardless of community size.

Writing Development and Translanguaging in Signing Bilingual Deaf Children of Deaf Parents

Translanguaging allows for a holistic lens on the natural language practices of multilinguals and the strategies they use to communicate and to make meaning, such as writing. Multilinguals have a single, integrated linguistic repertoire and reasoning in which all languages are naturally activated in the brain throughout the writing process. Some deaf children are raised in environments where signed language is first acquired and then used to support the development of a written language. The current literature on translanguaging is scant in capturing signing bilingual deaf writers’ translanguaging practices. This study took a closer look at the written texts produced by three deaf siblings within an American Sign Language/English bilingual deaf family across the course of their childhood between three and ten years old. Their applications of linguistic features in writing over time were qualitatively identified, described, and analyzed. This study’s findings provided rich descriptions and examples of the ways signing bilingual deaf children leverage their whole linguistic repertoire to express ideas in print. Because translanguaging practices were modeled at home and school during natural interactions and direct instruction, these siblings’ language and writing skills continued to flourish over time.

How and When to Sign “Hey!” Socialization into Grammar in Z, a 1st Generation Family Sign Language from Mexico

“Z” is a young sign language developing in a family whose hearing members speak Tzotzil (Mayan). Three deaf siblings, together with an intervening hearing sister and a hearing niece, formed the original cohort of signing adults. A hearing son of the original signer became the first native signer of a second generation. Z provides evidence for a classic grammaticalization chain linking a sign requesting attention (HEY1) to a pragmatic turn-initiating particle (HEY2), which signals a new utterance or change of topic. Such an emergent grammatical particle linked to the pragmatic exigencies of communication is a primordial example of emergent grammar. The chapter presents the stages in the son’s language socialization and acquisition of HEY1 and HEY2, starting at 11 months, through his subsequent bilingual development in both Z and Tzotzil, jointly deploying other communicative modalities such as gaze and touch. It proposes a series of stages leading, by 4 years of age, to his understanding of the complex sequential structure that using the sign involves. Acquiring pragmatic signs such as HEY in Z demonstrates how the grammar of a language, including an emergent sign language, is built upon the practices of a language community and the basic expected parameters of local social life.

Communication with deaf siblings in the perception of hearing siblings (SODA)

The analysis of the literature on the subject shows that the issues of siblings of children with various disabilities (and especially intellectual disabilities) are invariably of interest to scientists. However, there is still a deficit of significant empirical studies addressing the broadly understood issue of hearing siblings having a deaf brother or sister (SODA – Siblings of Deaf Adults). The article presents the results of a qualitative analysis of individual in-depth interviews (IDI – Individual In-Depth Interview), which were conducted with three hearing siblings having a deaf brother. The text touches on the specificity of communication between hearing and deaf siblings, as well as the resulting difficulties that lead to reflection.

Undescribed GJB2 c.35dupG homozygous prelingual distinguished from c.35delG homozygous/compound heterozygous deafs, dwelling a German ancestry Venezuelan isolate

BackgroundAmong ten hearing-impaired (HI) families mostly of German descent dwelling the Venezuelan isolate Colonia Tovar, which were initially studied several decades ago to assess the etiology of their profound/prelingual nonsyndromic deafness phenotype, an undescribed genotype/phenotype was found. Forty-eight subjects, including 8 of the still living 143 originally searched with audiograms 4 decades ago, were retested and their DNA collected. A genomic search of 27 loci involved in HI was performed on a randomly chosen prelingual deaf patient. Subsequently, GJB2 sequencing was performed in all subjects from each pedigree. Haplotypes were constructed with five intragenic GJB2 SNPs (rs117685390, rs7994748, rs2274084, rs2274083, and rs3751385). Audiograms performed along 5 decades were compared to evaluate age-related hearing loss in the different genotypes found in the population.ResultsThree prelingual deaf siblings, having the highest recorded symmetrical hearing loss of all the known affected in the isolate, carried the very rare mutation c.35dupG (p.V13Cfs*35) at GJB2 in a homozygous condition. Two additional GJB2 mutations were identified (p.W77R and c.35delG) in the isolate. Allelic disequilibrium in both c.35dupG and p.W77R carriers (with in-phase haplotype T;T;G;A;C) were found, although not so in the 2 other found c.35delG independent haplotypes. A compound heterozygote in trans (c.35delG/c.35dupG) was audiometrically distinguishable from both the c.35dupG and c.35delG homozygotes.ConclusionsA relatively higher frequency of mutation of c.35dupG found than elsewhere was retrospectively inferred for the ancient population of the Kaiserstuhl region in Germany, having an opposite epidemiological situation to the one found with the contiguous and very frequent c.35delG. Haplotype analysis suggests founder phenomena and independent occurrence, hundreds of generations back in Caucasoid populations for both mutations.

Psychomotor development of 4-year-old deaf children with cochlear implants: Three case studies

ObjectivesHearing is one of our most important senses, and hearing ability has an enormous impact on a child's psychomotor development. Children with auditory perception disorders may show abnormal development in terms of speech, language, and communication skills, as well as other disorders involving the cognitive sphere, social–emotional interactions, and motor development. This paper describes different paths of psychomotor development in three 4-year-old children. All were born with bilateral profound sensorineural hearing loss and were implanted early on with a cochlear implant. A longitudinal study of the children's psychomotor development was done for 3 years from the time of cochlear implantation. MethodsWe present three children with congenital, profound bilateral sensorineural hearing loss. Psychomotor development was evaluated using the Children Development Scale (CDS) and the Psychomotor Development Evaluation Cards (PDEC). The three children were: Girl A (4 years 2 months 17 days) – a user of one CI, last assessment of psychomotor development (PDEC) was 37 months after CI activation; Boy B (4 years 3 months 21 days) – a user of two CIs, last assessment of psychomotor development (PDEC) was 39 months after activation of first CI; Boy C (4 years 1 month 5 days) – user of two CIs, last assessment of psychomotor development (PDEC) was 36 months after activation of the first CI. ResultsAnalysis of the results from Girl A showed very poor dynamics of development from the age of 12 months, when the first CDS evaluation was performed, up to the PDEC evaluation performed at age 4 years. The CDS score of Boy B showed a very high level of psychomotor development. The PDEC evaluation performed after 39 months of using the first CI showed that the psychomotor development of Boy B was consistent with his chronological age. Boy C presented an average level of psychomotor development (compared to typically developing children) in his CDS scores in the perioperative period and then at 4, 9, and 14 months after cochlear implantation. After 24 months, his CDS scores showed a high level of psychomotor development. After 3 years of CI use, the PDEC evaluation showed that Boy C had an average score in five tested areas, a high score in the area of fine motor skills and lateralization, and a low score in knowledge and learning competencies. ConclusionsChildren with bilateral profound hearing loss can present different paths of psychomotor development. Children who receive a CI may show an age-appropriate level of psychomotor development compared to typically developing children. However, a hearing, speech, and language rehabilitation specialist responsible for the child still needs to perform regular checkups to monitor all areas of psychomotor development. Also, the effects of the deaf child's environmental determinants on psychomotor development should be studied in detail. These determinants include the parents' emotional state, the parents' involvement in the child's rehabilitation, the family's quality of life, and the presence of deaf siblings. In particular, the difficulties encountered by the mother (or father) in being the parent of a deaf child may hinder the family from receiving adequate support.

Rodzeństwo głuche w rodzinie. Z perspektywy SODA

Problematyka rodzeństwa pełnosprawnego mającego siostrę lub brata z niepełnosprawnością wciąż stanowi przedmiot zainteresowań badawczych wielu krajowych i zagranicznych naukowców. Analiza literatury przedmiotu wskazuje jednak na deficyt opracowań naukowych dotyczących rodzeństwa SODA oraz ich głuchego brata lub siostry. <b>Cel</b>: Celem przedstawionych w niniejszym tekście badań było uzyskanie informacji na temat stosunku SODA do niepełnosprawności głuchego rodzeństwa, ich komunikacji oraz wzajemnych relacji. <b>Metody</b>: Badanie zostało przeprowadzone na podstawie jakościowej strategii weryfikacji empirycznej, tj. Metodzie Indywidualnych Wywiadów Pogłębionych (IDI). Objęto nim rodzeństwo trojga dorosłych słyszących posiadających głuchego brata. <b>Rezultaty</b>: Rezultaty przeprowadzonych badań ujawniły przede wszystkim występowanie bariery komunikacyjnej pomiędzy SODA a głuchym rodzeństwem. Niemożność swobodnej komunikacji wpłynęła negatywnie na ich wzajemne relacje. Analiza danych empirycznych ukazała również, jakie zmiany w perspektywie temporalnej zachodziły w świadomości, postrzeganiu i stosunku SODA do brata i jego głuchoty oraz co było ich podłożem. <b>Wnioski</b>: Przyglądając się uzyskanym wynikom badań, można wysnuć wniosek, że przyczyną większości sytuacji trudnych, które przytaczali badani respondenci, jest bariera komunikacyjna. Wszakże podstawą budowania relacji międzyludzkich, a zwłaszcza między rodzeństwem, jest wzajemna komunikacja. O pełną komunikację pomiędzy rodzeństwem powinni zadbać rodzice, a tego w przypadku tej rodziny zabrakło. Opis sytuacji i wyniki przeprowadzonych badań nie budzą wątpliwości, że rzeczywistość SODA i ich głuchego rodzeństwa wymaga dalszych eksploracji, a także – być może – wsparcia społecznego.

A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders

Mutations in the PEX1 gene are usually associated with recessive inherited diseases including Zellweger spectrum disorders. In this work, we identified a new pathogenic missense homozygous PEX1 mutation (p.Leu1026Pro, c.3077T>C) in two Moroccan syndromic deaf siblings from consanguineous parents. This variation is located in the P-loop containing nucleoside triphosphate hydrolase of protein domain and probably causes an alteration in the hydrolysis of ATP.

Ser Irmão de uma Pessoa Surda: Relatos da Infância à Fase Adulta

RESUMO: o objetivo do presente estudo foi analisar a experiência de irmãos de pessoas surdas acerca de sua história de vida e das implicações da deficiência nos relacionamentos fraternos. Tratou-se de um estudo exploratório, de abordagem qualitativa, que contou com a participação de cinco irmãos de pessoas surdas com idade entre 31 a 44 anos. Para a coleta de dados foram utilizados os seguintes instrumentos: questionário de identificação e roteiro de entrevista em profundidade. Os dados obtidos foram analisados a partir do modelo de produções de sentido das práticas discursivas. Os principais resultados apontaram que a dificuldade de comunicação entre os participantes e seus irmãos surdos repercutiu em questões nos relacionamentos desde a infância até a fase adulta. Considera-se que as questões inerentes à deficiência trouxeram consequências a todos os membros da família, em especial nos quesitos relacionamentos e comunicação e que disponibilizar atenção especializada aos pais e irmãos destas pessoas auxiliaria no manejo das situações vinculadas à deficiência e fortalecimento dos vínculos familiares.

Mutations in eight small DFNB genes are not a frequent cause of non-syndromic hereditary hearing loss in Czech patients

ObjectivesTo evaluate the contribution of eight small NSHL-AR (non-syndromic deafness, autosomal recessive) genes to hereditary hearing loss in Czech patients. Patients and MethodsUnrelated Czech patients, adults and children, diagnosed with pre-lingual hereditary hearing loss with at least one similarly affected deaf sibling and with previously excluded mutations in the GJB2 gene were investigated by Sanger sequencing of the selected eight small NSHL-AR associated genes (CABP2 - 51 patients, CIB2 - 45 patients, PJVK/DFNB59 - 53 patients, GJB3 - 46 patients, ILDR1 - 48 patients, LHFPL5 - 66 patients, LRTOMT - 60 patients, TMIE - 64 patients). ResultsMutations were detected in the LHFPL5 (DFNB67) gene. The patient is heterozygote for two already described pathogenic variants (p.Tyr127Cys, p.Thr165Met). In five samples, five rare heterozygous variants (two novel) predicted as pathogenic were detected in genes CABP2, ILDR1, LHFPL5 and LRTOMT. ConclusionMutations in eight small NSHL-AR genes are not a frequent cause of hereditary hearing loss in the Czech Republic. This diagnostic approach permitted the clarification of HL in only one patient – two heterozygous mutations were detected in LHFPL5 gene for the first time in Central Europe. As the use of panel base MPS certainly improves the diagnostic yield, future studies should rather profit from that diagnostic strategy.

Peasants, Warriors, and the Streams: Language Games and Etiologies of Deafness in Adamorobe, Ghana.

Me: Were you born deaf? Kwame Osae: Yes, I was born deaf. Me: How come? You have hearing parents, right? [Being born deaf is usually linked to having deaf parents] Kwame Osae: (slightly confused) I don’t know . . . maybe because of witches. Me: Ama Korkor [Kwame’s younger deaf sister] told me that she was born hearing. Kwame Osae: That is not true, we were all born deaf: me, Kofi Pare, Ama Korkor, Yaa Bomo, and Yaa Aketewa [i.e., his four younger deaf siblings]

Peasants, Warriors, and the Streams of Deafness. Language games and etiologies of deafness in Adamorobe, Ghana.

Me: Were you born deaf? Kwame Osae: Yes, I was born deaf. Me: How come? You have hearing parents, right? [Being born deaf is usually linked to having deaf parents] Kwame Osae: (slightly confused) I don't know… maybe because of witches. Me: Ama Korkor [Kwame's younger deaf sister] told me that she was born hearing. Kwame Osae: That is not true, we were all born deaf: me, Kofi Pare, Ama Korkor, Yaa Bomo and Yaa Aketewa [i.e. his four younger deaf siblings]. I decided to confront his version with the one of Ama Korkor and I called for her attention. She was sitting a bit further in the compound where they live. I reminded her that she once told me that she was born hearing. Ama Korkor: Yes, I don't know that myself… but my mother told me that I was hearing as a baby… This article is protected by copyright. All rights reserved.

Hey!

Zinacantec Family Homesign (Z) is a new sign language emerging spontaneously over the past three decades in a single family in a remote Mayan Indian village. Three deaf siblings, their Tzotzil-speaking age-mates, and now their children, who have had contact with no other deaf people, represent the first generation of Z signers. I postulate an augmented grammaticalization path, beginning with the adoption of a Tzotzil cospeech holophrastic gesture-meaning "come!"-into Z, and then its apparent stylization as an attention-getting sign, followed by grammatical regimentation and pragmatic generalization as an utterance initial change of speaker or turn marker.

Autosomal recessive non-syndromic hearing loss is caused by novel compound heterozygous mutations in TMC1 from a Tibetan Chinese family

ObjectivesHearing loss is the most common sensory disorder worldwide. Biallelic mutations in 42 different genes have been identified as associated with autosomal recessive non-syndromic hearing loss (ARNSHL). One of the common genes responsible for ARNSHL is TMC1. TMC1 mutations have been reported to cause non-syndromic hearing loss in a variety of populations. The current study is designed to investigate mutations prevalent among Chinese ethnic groups with ARNSHL. MethodsTargeted exome sequencing (TES) was employed to study the genetic causes of two siblings with ARNSHL in a Tibetan Chinese family. Variants identified by TES were further confirmed by Sanger sequencing. ResultsWe identified two distinct variants in the TMC1 gene in two deaf siblings of one Tibetan Chinese family using TES. Both siblings inherited a paternal allele containing a deletion of c.1396_1398AAC (p.Asn466del) and a maternal allele containing an insertion of c.2210_2211insCT (p.Glu737HisfsX2). The former disrupts a highly conserved residue in the large intracellular loop domain adjacent to the fourth transmembrane domain, and the latter causes a truncation of a portion of the C-terminal domain. These variants were compound heterzygous and segregated with the hearing impairment in this family. ConclusionThe novel compound heterozygous mutant alleles of TMC1 identified in this study were responsible for the ARNSHL in this Tibetan Chinese family. Although compound heterozygous mutations in TMC1 occurring in different TMC1 domains have been previously described in Han Chinese; this result suggests that the TMC1 variants contributing to hereditary deafness in Chinese populations may be more complex than initially assumed and that sequence-based diagnostics will be required for a comprehensive evaluation of ARNSHL.

Child maltreatment and trauma exposure among deaf and hard of hearing young adults

The purpose of the present study was to examine the prevalence of child maltreatment and lifetime exposure to other traumatic events in a sample of deaf and hard of hearing (DHH; n=147) and matched hearing (H; n=317) college students. Participants completed measures of child maltreatment (CM), adult victimization and trauma exposure, and current symptoms of posttraumatic stress disorder (PTSD). Overall, DHH participants reported significantly more instances of CM compared to H participants, with 76% of DHH reporting some type of childhood abuse or neglect. Additionally, DHH participants reported experiencing a higher number of different types of CM, and also reported increased incidents of lifetime trauma exposure and elevated PTSD symptoms. Severity of deafness increased the risk of maltreatment, with deaf participants reporting more instances of CM than hard of hearing participants, and hard of hearing participants reporting more instances of CM than H participants. Among DHH participants, having a deaf sibling was associated with reduced risk for victimization, and identification with the Deaf community was associated with fewer current symptoms of PTSD. A regression model including measures of childhood physical and sexual abuse significantly predicted adult re-victimization and accounted for 27% of the variance among DHH participants. DHH participants report significantly higher rates of CM, lifetime trauma, and PTSD symptoms compared to H participants. Severity of deafness appears to increase the risk of being victimized. Being part of the Deaf community and having access to others who are deaf appear to be important protective factors for psychological well-being among DHH individuals.

The emerging grammar of nouns in a first generation sign language

A first generation family homesign system, dubbed “Z”, from the Tzotzil-speaking township of Zinacantán, in Chiapas, Mexico, provides insight into how a new sign language can begin to distinguish formally different “part-of-speech” categories. After describing the small signing community, consisting of 3 deaf sibling and their intermediate hearing sister, plus a younger cousin — the entire set of fluent adult signers — plus the hearing child of the oldest deaf signer, and setting out some of the theoretical issues surrounding the nature of “part-of-speech” in sign languages, the paper considers three sorts of mechanisms the language has developed to help distinguish signs that refer to objects from signs that refer to actions. These include a set of size-shape specifiers that co-occur with presumed nominal signs, an iconic contrast between different sign formational elements that somewhat inconsistently signal a noun/verb distinction, and, perhaps most interestingly, a construction involving a clearly grammaticalized locative or copular element that allows Z signers to make clear that they are referring to (physical) objects rather than actions. The paper concludes by considering the overall effect of these quite different formal strategies on the evolving language structure.

A novel compound heterozygous mutation in the GJB2 gene causing non-syndromic hearing loss in a family

Mutations in the GJB2 gene are responsible for up to 50% of cases of non-syndromic recessive hearing loss, with c.35delG, c.167delT and c.235delC being the predominant mutations in many world populations. However, a large number of rare mutations in this gene may also contribute to hearing loss. The aim of the present study was to conduct a clinical and molecular characterization of a Chinese family with non-syndromic hearing loss. Sequence analysis of the GJB2 gene led to the identification of a novel compound heterozygous mutation c.257C>G (p.T86R)/c.605ins46 in two profoundly deaf siblings whose hearing parents were each heterozygous, either for the c.257C>G (paternal) or for the c.605ins46 (maternal) mutations. Both c.257C>G and c.605ins46 are rare GJB2 mutations that have previously been reported to segregate with autosomal recessive hearing loss exclusively in East Asian populations. To study the pathogenic effect of the compound heterozygous mutation, a three-dimensional model was constructed and Anolea mean force potential energy was predicted for a bioinformatic structural analysis. HEK293 cells were used to study the pathogenic effect of mutant connexin 26 proteins. The results suggested that the c.257C>G (p.T86R)/c.605ins46 mutations in the GJB2 gene provides a novel molecular explanation for the role of the GJB2 gene in hearing loss.

(Mis)understanding and Obtuseness: “Ethnolinguistic Borders” in a Miniscule Speech Community

Building on two of Gumperz's foundational concerns—multilingual speech communities and linguistically linked intercultural miscommunication—I extend (or perhaps reduce) a couple of Gumperzian concepts to an almost limiting case: a single extended family in Chiapas, Mexico, where three deaf siblings interact with their hearing relatives of three generations. Here a spoken Mayan language (along with a little Spanish) is used side by side with a spontaneously emerging homesign or sign language. Linguistic tension emerges from misunderstandings and failures of communication in even this tiny speech community, and the complex pattern of interaction between its members suggests analogues of ethnolinguistic divisions, here even between siblings or parents and children, as well as nascent ideologies of language, mind, and identity familiar from much larger and more diversified speech situations. In particular I examine the crucial nexus of linguistically mediated social relations between the first deaf individual in the family and four categories of others: her parents, her deaf siblings, her hearing siblings, and her young (hearing) child.

Novel Compound Heterozygous TMC1 Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family

Hereditary nonsyndromic hearing loss is highly heterogeneous and most patients with a presumed genetic etiology lack a specific diagnosis. It has been estimated that several hundred genes may be associated with this sensory deficit in humans. Here, we identified compound heterozygous mutations in the TMC1 gene as the cause of recessively inherited sensorineural hearing loss by using whole-exome sequencing in a family with two deaf siblings. Sanger sequencing confirmed that both siblings inherited a missense mutation, c.589G>A p.G197R (maternal allele), and a nonsense mutation, c.1171C>T p.Q391X (paternal allele), in TMC1. We also used DNA from 50 Chinese familial patients with ARNSHL and 208 ethnicity-matched negative samples to perform extended variants analysis. Both variants co-segregated in family 1953, which had the hearing loss phenotype, but were absent in 50 patients and 208 ethnicity-matched controls. Therefore, we concluded that the hearing loss in this family was caused by novel compound heterozygous mutations in TMC1.