Genetic Testing of Non-familial Deaf Patients for CIB2 and GJB2 Mutations: Phenotype and Genetic Counselling.

CIB2 and GJB2 genes variants contribute significantly in familial cases of prelingual recessive hearing loss (HL). This study was aimed to determine the CIB2 and GJB2 variants and associated phenotype in 150 non-familial individuals with HL. After getting informed consent, 150 non-familial deaf patients were enrolled and blood samples were obtained for DNA extraction. Pure tone air conduction audiometry was performed. Coding exons of CIB2 and GJB2 genes were Sanger sequenced. A tetra primer ARMS assay was developed for recurrent CIB2 variant. Four bi-allelic GJB2 variants, c.71G>A p.(Trp24*), c.231G>A p.(Trp77*), c.235delC p.(Leu79Cysfs3*) and c.35delG p.(Gly11Leufs24*), were found in nine hearing impaired individuals. We also found four homozygotes and five carriers of c.380G>A p. (Arg127His) variant of controversial clinical significance. CIB2 sequencing revealed single recurrent variant c.272T>C p. (Phe91Ser) segregating with HL in ten individuals. Among our patients, c.71G>A (p.Trp24*) was the most common variant, accounted for 45% of GJB2 variants. Two known GJB2 variants, c.235delC p. (Leu79Cysfs3*) and c.310del14 p. (Lys105Argfs2*), are reported here for the first time in Pakistani population. Our data further support the benign nature of c.380G>A p. (Arg127His) variant. For CIB2, c.272T>C p. (Phe91Ser) is the second common cause of HL among our sporadic cases. Phenotypically, in our patients, individuals homozygous for GJB2 variants had profound HL, whereas CIB2 homozygotes had severe to profound prelingual HL. Our results suggest that GJB2 and CIB2 are common cause of HL in different Pakistani ethnicities.

[The audiological analysis in the patients homozygous for the c.-23+1G>A mutation in the GJB2 gene presenting with the loss of hearing in Yakutiya].

In the course of previous investigations carried out in the Republic of Sakha (Yakutiya), we have identified the main molecular-genetic factor responsible for the hereditary impairment of hearing among the indigenous population (mostly the Yakuts).The disease was shown to be attributable to the c.-23+1G>A mutation localized in the splice donor site (exon 1) of the GJB2 (Cx26) gene. The present study involved the comprehensive audiological analysis of the patients homozygous for the c.-23+1G>A mutation in the GJB2 gene based on the results of the study of a large sample of the patients residing in Yakutiya. All individuals with the GJB2 genotype c.-23+1G>A/c.-23-1G>A (n=108) at the mean age of 14.32±4.7 years (all ethnic Yakuts)were examined with the use oftonal threshold audiometry for air conduction testing at the frequencies of 0.25, 0.5, 1.0, 2.0, 4.0, and 8.0 kHz and bone conduction testing at the frequencies of 0.25, 0.5, 1.0, and 4.0 with a step of 5.0 dB.The results of the ASSR test were used whenever tonal threshold audiometry proved impracticable The data obtained in the study characterize the allelic form of the disease associated with the GJB2 genotype c.-23+1G>A/c.-23-1G>A as the congenital bilateral symmetric (90.1%), sensorineural (90.1%) form of hearing impairment of variable severity (from grade 1 to complete deafness) with the «flat¼ audiological profile (median slope not more than 5.0 dB in the extended frequency range (EFR) of 0.5, 1.0, 2.0, and 4.0, kHz). It is concluded that the results of the audiological analysis performed in the present study give evidence of relatively homogeneous but variable in terms of severity impairment of hearing in the patients homozygous for the c.-23+1G>A mutation in the GJB2 (Cx26) gene. It may serve as a positive prognostic sign to be used in the development and prescription of hearing aids.

Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations.

BACKGROUND: Mutations in the POU3F4 gene cause X-linked deafness type 3 (DFN3), which is characterized by inner ear anomalies. METHODS: Three Turkish, one Ecuadorian, and one Nigerian families were included based on either inner ear anomalies detected in probands or X-linked family histories. Exome sequencing and/or Sanger sequencing were performed in order to identify the causative DNA variants in these families. RESULTS: Four novel, c.707A>C (p.(Glu236Ala)), c.772delG (p.(Glu258ArgfsX30)), c.902C>T (p.(Pro301Leu)), c.987T>C (p.(Ile308Thr)), and one previously reported mutation c.346delG (p.(Ala116ProfsX26)) in POU3F4, were identified. All mutations identified are predicted to affect the POU-specific or POU homeo domains of the protein and co-segregated with deafness in all families. CONCLUSIONS: Expanding the spectrum of POU3F4 mutations in different populations along with their associated phenotypes provides better understanding of their clinical importance and will be helpful in clinical evaluation and counseling of the affected individuals.

Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese family.

Autosomal dominant nonsyndromic hearing loss (ADNSHL/DFNA) is a highly genetically heterogeneous disorder. Hitherto only about 30 ADNSHL-causing genes have been identified and many unknown genes remain to be discovered. In this research, genome-wide linkage analysis mapped the disease locus to a 4.3 Mb region on chromosome 19q13 in SY-026, a five-generation nonconsanguineous Chinese family affected by late-onset and progressive ADNSHL. This linkage region showed partial overlap with the previously reported DFNA4. Simultaneously, probands were analyzed using exome capture followed by next-generation sequencing. Encouragingly, a heterozygous missense mutation, c.505G>A (p.G169R) in exon 3 of the CEACAM16 gene (carcinoembryonic antigen-related cell adhesion molecule 16), was identified via this combined strategy. Sanger sequencing verified that the mutation co-segregated with hearing loss in the family and that it was not present in 200 unrelated control subjects with matched ancestry. This is the second report in the literature of a family with ADNSHL caused by CEACAM16 mutation. Immunofluorescence staining and western blots also prove CEACAM16 to be a secreted protein. Furthermore, our studies in transfected HEK293T cells show that the secretion efficacy of the mutant CEACAM16 is much lower than that of the wild type, suggesting a deleterious effect of the sequence variant.

Ethics, equity, and human dignity in access to health services: the case of cochlear implants in children and adolescents.

Compare the number of implants performed in the last 12 years for children and adolescents up to 18 years in different regions of mainland Portugal. Study the trend of total implants over the years as well as the percentage held in early ages. Verify to what extent this practice is in line with the values of fairness and justice that underpin European health systems. A retrospective study of cochlear implantation was conducted using a hospital database containing all the episodes with cochlear implant procedures in public hospitals that occurred in Portugal between 2000 and 2012. An analysis by age, year, and region of the implants were performed. The Northern and Central regions, the nearest big center specializing in cochlear implants in Portugal, are those with the largest number of implants: 2.0 and 2.4 per 10,000 children, respectively. The regions of Alentejo and Algarve, which are more rural and remote regions of the center, record the smallest number of implants, 1.1 and 1.5 per 10,000 children, respectively. Over the years, there seems to be an increase of implants implemented in children under 18, most notably from a significant reduction in 2011 and 2012. However, an increase in children implanted before 24 months has been observed from the same zero children at this age in the early years studied to 0.46 per 10,000 inhabitants in 2012. The right to adequate health care must be in accordance with the full respect of fundamental human rights. Economic, social, and educational conditions must also be guaranteed in this process of auditory rehabilitation. Societies must develop a system of ethical health priorities, so that even in situations of financial crisis, the most disadvantaged sectors are not the most penalized ones by the inevitable economic constraints that are implemented.

[Combined hearing and deafness gene mutation screening of 11,046 Chinese newborns].

OBJECTIVE: To evaluate the efficacy of combined newborn hearing screening and deafness-related mutation screening. METHODS: Eleven thousand and forty-six newborn babies were screened with otoacoustic emission, automatic auditory brainstem response and genetic testing using a standard protocol. Common mutations of three deafness-related genes have included GJB2 (c.235delC, c.299-300delAT), mtDNA 12srRNA (c.1494C>T, c.1555A>G) and SLC26A4 (c.2168A>G, c.IVS7-2A>G). RESULTS: The detection rate for hearing loss in the first-step screening was 0.81% (90/11,046). 513 individuals were found to carry one or two mutant alleles, which gave a carrier rate of 4.64% (513/11,046). Five hundred and eighty-four newborns were positive for hearing screening and genetic screening. Among these, 19 have failed both tests, 71 have failed hearing screening, and 494 have failed genetic screening. The combined hearing and genetic screening has given a positive rate of 5.29%. CONCLUSION: Neither hearing screening nor genetic screening is sufficient to identify individuals susceptible to auditory disorders. Combined used of these methods can improve the rate of detection.

Deaf native signers are better readers than nonnative signers: myth or truth?

The central aim of this study was to clarify whether sign language (SL) nativeness is a significant factor in determining prelingually deaf individuals' reading skills and whether its contribution is modified by the reader's orthographic background. A second aim was to elucidate similarities and differences between native and nonnative signers in processing written information at different processing levels in order to understand how SL nativeness sustains the reading process, if at all. Participants were 176 students with prelingual deafness recruited from two education levels (6th-7th graders and 9th-10th graders) and three orthographic backgrounds (Hebrew, German, and Turkish). Sixty-six students were native and the remainder nonnative signers. They were tested with a battery of eight experimental paradigms, each assessing their information processing skills in a specific reading-related or reading-unrelated domain. Findings corroborate SL nativeness enhancing the reading process in some regard. However, its contribution was not found to scaffold the structural processing of a written text to turn reading into a tool for learning. Rather, gains were restricted to facilitating processing written words from a perceptual to a conceptual level. Evidence suggests that compared with other determining factors, the contribution of SL nativeness to proficient reading may be rather marginal.

Concurrent correlates of Chinese word recognition in deaf and hard-of-hearing children.

The aim of this study was to explore the relative contributions of phonological, semantic radical, and morphological awareness to Chinese word recognition in deaf and hard-of-hearing (DHH) children. Measures of word recognition, general intelligence, phonological, semantic radical, and morphological awareness were administered to 32 DHH and 35 hearing children in Hong Kong. Hierarchical regression analyses showed that tone, semantic radical, and morphological awareness made independent contributions to word recognition in DHH children after the effects of age and intelligence were statistically controlled for. Semantic radical and morphological awareness was found to explain significantly more variance than tone awareness in predicting word recognition in DHH children. This study has replicated previous evidence regarding the importance of semantic radical and morphological awareness in Chinese word recognition in hearing children and extended its significance to DHH children.

Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development.

We identified homozygous truncating mutations in HOXA1 in three genetically isolated human populations. The resulting phenotype includes horizontal gaze abnormalities, deafness, facial weakness, hypoventilation, vascular malformations of the internal carotid arteries and cardiac outflow tract, mental retardation and autism spectrum disorder. This is the first report to our knowledge of viable homozygous truncating mutations in any human HOX gene and of a mendelian disorder resulting from mutations in a human HOX gene critical for development of the central nervous system.

[Screening of common deafness gene mutations in 17 000 Chinese newborns from Chengdu based on microarray analysis].

OBJECTIVE: To achieve early diagnosis for inheritable hearing loss and determine carrier rate of deafness causing gene mutations in order to provide information for premarital, prenatal and postnatal genetic counseling. METHODS: A total of 17 000 dried heel blood spots of normal newborns in Chengdu were collected with informed consent obtained from their parents. Genomic DNA was extracted from dried blood spots using Qiagen DNA extraction kits. Microarrays with 9 common mutation loci of 4 deafness-associated genes in Chinese population were used. Nine hot mutations including GJB2 (35delG, 176del16, 235delC and 299delAT), GJB3 (538C> T), SLC26A4 (IVS 7-2A> G, 2168A> G), and mitochondrial DNA 12S rRNA (1555A> G, 1494C> T) were detected by PCR amplification and microarray hybridization. Mutations detected by microarray were verified by Sanger DNA sequencing. RESULTS: Of the 17 000 new-borns, 542 neonates had mutations of the 4 genes. Heterozygous mutations of GJB2, at 235delC, 299delAT, and 176del16 were identified in 254, 55, and 15 newborns, respectively. Two newborns had homozygous mutation of GJB2, 235delC. Heterozygous mutations at 538C> T of GJB3, 2168A> G and IVS 7-2A> G of SLC26A4 were found in 23, 17 and 128 newborns, respectively. For mutation analysis of mitochondrial DNA 12S rRNA, 1494C> T and 1555A> G were homogeneous mutations in 4 and 42 neonates, respectively. In addition, 6 complexity mutations were detected, which demonstrated that one newborn had heterozygous mutations at GJB2 235delC and SLC26A4, IVS7-2A> G, one had heterozygous mutation GJB2 235delC and 12S rRNA homogeneous mutation, 1555 A> G, one heterozygous mutations at GJB2, 299delAT, and GJB3, 538C> T, one at GJB2, 299delAT and 12S rRNA, 1555 A> G, two at GJB2, 299delAT, and SLC26A4, IVS7-2A> G. All mutations as above were confirmed by DNA sequencing. CONCLUSION: The total mutation carrier rate of the 4 deafness genes is 3.19% in healthy newborns at Chengdu. Mutations of GJB2 and SLAC26A4 are major ones (86.5% of total). The mutation rate of mitochondrial DNA 12S rRNA is 2.71‰, which may have deafness induced by aminoglycoside antibiotics. Newborn screening for mutation of genes related to hereditary deafness plays an important role in the early detection and proper management for neonatal deafness as well as genetic counseling for premarital, prenatal and postnatal diagnosis.

MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population.

BACKGROUND: Mutations in MPZL2, the characteristic genetic etiology of autosomal recessive deafness loci 111 (DFNB111), cause non-syndromic and moderate sensorineural hearing loss. METHODS: In this study, we analyzed the phenotype and genotype of eight pedigrees consisting of 10 hearing loss patients with bi-allelic pathogenic or likely pathogenic variants in MPZL2. These patients were identified from a 3272 Chinese patient cohort who underwent genetic testing. RESULTS: Apart from symmetrical and moderate sensorineural hearing loss, the MPZL2-related phenotype was characterized by progressive hearing loss with variation in the onset age (congenital defect to onset at the young adult stage). We determined that in the Chinese population, the genetic load of MPZL2 defects was 0.24% (8/3272) in patients diagnosed with hearing loss and 7.02% (8/114) in patients diagnosed with hereditary moderate sensorineural hearing loss caused by STRC, OTOA, OTOG, OTOGL, TECTA, MPZL2 and others. Three known MPZL2 variants (c.220C > T (p.Gln74*), c.68delC (p.Pro23Leufs*2), c.463delG (p.Ala155Leufs*10)) and a novel start loss variant (c.3G > T (p.Met1?)) were identified. MPZL2 c.220C > T was identified as the hotspot variant in the Chinese population and even in East Asia compared with c.72delA (p.Ile24Metfs*22) in European and West Asia through allele frequency. CONCLUSIONS: We concluded that apart from moderate HL, progressive HL is another character of MPZL2-related HL. No specified variant was verified for the progression of HL, the penetrance and expressivity cannot be determined yet. A novel MPZL2 variant at the start codon was identified, enriching the variant spectrum of MPZL2. The hotspot variants of MPZL2 vary in different ethnicities. This study provides valuable data for the diagnosis, prognosis evaluation and genetic counseling of patients with moderate sensorineural hearing loss related to MPZL2.

Examining the Language and Communication Factors of a Deaf Child with Autism Spectrum Disorder from an Immigrant Korean Family.

Extant research on learners who are d/Deaf or hard of hearing with disabilities who come from Asian immigrant families is extremely sparse. The authors conducted an intrinsic case study of a deaf student with autism who comes from a Korean immigrant family. To acquire a comprehensive understanding of language and communication characteristics, they analyzed (a) interview data of three administrators who worked with the student and family and (b) school documents/reports issued to the parents. Themes are reported across the three components of the tri-focus framework (Siegel-Causey & Bashinski, 1997): the learner, partner, and environment. Implications for practitioners who work with these learners and their families are discussed, including (a) compiling an individualized language and communication profile that encompasses the framework; (b) utilizing culturally and linguistically responsive practices with the family; (c) practicing interprofessional collaboration; and (d) modifying physical and social environments to increase accessibility.

Unraveling the propensity of various genetic disorders and syndromes in the Koraga, an aboriginal tribe from southern India.

Koragas, recognized as a particularly vulnerable tribal group (PVTG) by the Government of India, are from coastal Karnataka and Kerala. They are experiencing severe socioeconomic and health-related issues and rapid depopulation. The unique genetic makeup of Koragas has been maintained by the practice of endogamy. We aimed to identify genetic factors potentially associated with the predisposition of Koragas towards genetic and multifactorial disorders. We employed genome-wise data of 29 Koraga individuals genotyped on the Infinium Global Screening Array-24 v3.0 BeadChip platform and performed various population genetic analyses including kinship, identity by descent (IBD), and runs of homozygosity (RoH). A high degree of haplotype sharing among the Koraga participants may be indicative of a recent founder event. We identified genetic variants and genes associated with several genetic disorders, higher infant mortality rate, neurological disorders, deafness, and lower fertility rate of this agrarian tribe. Ours is the first genome-wide study on the Koraga tribe that identified genetic factors associated with various genetic disorders. Our findings can provide public healthcare providers with essential genetic information that can be useful in augmenting medical and healthcare services and improving the quality of life of Koragas.

Genetic mutations in nonsyndromic deafness patients of Chinese minority and Han ethnicities in Yunnan, China.

BACKGROUND: Each year in China, 30,000 babies are born with congenital hearing impairment. However, the molecular etiology of hearing impairment in the Yunnan Province population where more than 52 minorities live has not been thoroughly investigated. To provide appropriate genetic testing and counseling to these families, we investigated the molecular etiology of nonsyndromic deafness in this population. METHODS: Unrelated students with hearing loss (n = 235) who attended Kunming Huaxia secondary specialized school in Yunnan enrolled in this study. Three prominent deafness-related genes, GJB2, SLC26A4 and mtDNA 12S rRNA, were analyzed. High-resolution temporal bone computed tomography (CT) scan examinations were performed in 100 cases, including 16 cases with SLC26A4 gene variants, and 37 minorities and 47 Han cases without any SLC26A4 gene mutation. RESULTS: The GJB2 mutation was detected in 16.67% (7/42) of minority patients and 17.62% (34/193) of Chinese Han patients (P > 0.05). 235delC was the hotspot mutation in nonsyndromic hearing loss (NSHL) patients, whereas 35delG was not found. The 431_450del19 mutation was detected for the first time in Han NSHL patients, which resulted in a premature stop codon and changed the protein. The SLC26A4 mutation was found in 9.52% (4/42) of minority patients and 9.84% (19/193) of Han Chinese patients (P > 0.05). The frequencies of mtDNA 12S rRNA mutation in minority and Han Chinese patients were 11.90% (5/42) and 7.77% (15/193; P > 0.05), respectively. Sixteen (16/23, 69.57%) patients with SLC26A4 mutations received temporal bone CT scan, and 14 patients were diagnosed with enlarged vestibular aqueducts (EVAs); the other 2 patients had normal inner ear development. The ratio of EVA in the minorities was 14.63% (6/41). CONCLUSIONS: In this study, a total of 35.74% deaf patients showed evidence of genetic involvement, based on either genetic screening or family history; 17.45%, 9.79%, and 8.51% of the patients were determined to have inherited hearing impairment caused by GJB2, SLC26A4, and mtDNA 1555A > G mutations. There was no significant difference in deafness associated gene mutational spectrum and frequency between the Yunnan minority and Han patients.

Factors distinguishing skilled and less skilled deaf readers: evidence from four orthographies.

This study aims to enhance understanding of the factors underlying variance in the reading comprehension skills of prelingually deaf individuals. Participants were 213 sixth through tenth graders with prelingual deafness recruited from four orthographic backgrounds (Hebrew, Arabic, English, and German) and allocated to three distinct reading profiles (levels). A sentence comprehension test manipulating the semantic plausibility of sentences and a word processing experiment requiring rapid determination of the semantic relationship between two real words or between a real word and a pseudohomophonic letter string were used to determine the factors distinguishing skilled from less skilled deaf readers. Findings point to deficits in structural (syntactic) knowledge and deficient knowledge structures, rather than differences in phonological processing skills, as making that distinction. Moreover, the acquisition of such knowledge seems to be modified by particularities of the read orthography.

[Applicability of the SON-R 6-40 in children with hearing impairment and children with diverse cultural and language backgrounds]. / Zur Aussagekraft des SON-R 6-40 bei Kindern mit Hörbeeinträchtigung und Kindern mit Migrationshintergrund.

Certain aspects of the use of the Snijders-Oomen Non-verbal Intelligence Test (SON-R 6-40) in clinical and educational assessment of children with hearing impairment and children from immigrant families are discussed. Test results of 35 children per group have been compared to the data from a German-speaking control group, matched by age, sex and educational achievement of both parents. Specific differences between the three groups on both subtest and IQ levels are demonstrated. This paper provides scoring results for the three groups and discusses the differences between the test profiles. The test can be accomplished with children who have special educational needs. Results also prove the usefulness of a non verbal test in the assessment of cognitive abilities in clinical-diagnostic questions.

Health disparities among Black deaf and hard of hearing Americans as compared to Black hearing Americans: A descriptive cross-sectional study.

ABSTRACT: There is a dearth of literature on health outcomes for Black people who identify as deaf or hard of hearing (DHH). Black DHH individuals generally experience at least 2 types of oppression, racism and audism, both of which contribute to health disparities within the Black and Deaf communities.To understand the prevalence of health outcomes in a Black DHH adult sample and compare this to a Black hearing sample.A descriptive cross-sectional study with primary Health Information National Trends Survey (HINTS)- American Sign Language survey data from Black DHH adults and secondary National Cancer Institute-HINTS English survey data from Black hearing adults.Black DHH adults and Black hearing adults (18 years or older).Using NCI's health information national trends survey in American Sign Language and English, self-reported data was gathered for all medical conditions as diagnosed by healthcare providers.The study showed that Black DHH adults had a higher likelihood for diabetes, hypertension, lung disease, cancer, and comorbidity compared to their hearing Black counterparts.Black DHH adults are at disparity for certain medical conditions compared to the general Black adult population. Future directions are needed to ensure that anti-racist policies include consideration of people with sensory disabilities. Inclusion of cultural and language needs of Black DHH patients in cultural humility training for healthcare providers is recommended to address health disparity in this population.

Genetic mutations in non-syndromic deafness patients of Uyghur and Han Chinese ethnicities in Xinjiang, China: a comparative study.

BACKGROUND: The deafness-associated gene mutation profile varies greatly among regions and races. Due to the multi-ethnic coalition of over one thousand years, non-syndromic deafness (NSD) patients of Uyghur ethnicity may exhibit a unique deafness-associated gene mutation spectrum as compared to Han Chinese deaf population. METHODS: In order to characterize nine loci of four deafness-associated genes of Uyghur NSD patients in comparison with Chinese Han deaf population, NSD patients (n = 350) were enrolled, including Uyghur (n = 199) and Han Chinese (n = 151). Following the history taking, blood samples were collected for DNA extraction. DNA microarray was performed on nine loci of four deafness-associated genes, including 35delG, 176-191del16, 235delC, 299-300delAT, 538C > T, 1555A > G, 1494C > T, 2168A > G, and IVS7-2A > G. The samples that showed the absence of both wild and mutant probe signals were tested for further DNA sequencing analysis. RESULTS: The mutations in the nine loci of prevalent deafness-associated genes were detected in 13.06% of Uyghur NSD patients and 32.45% of Han Chinese patients (P < 0.05), respectively. GJB2 mutation was detected in 9.05% of Uyghur patients and 16.56% of Han Chinese patients (P > 0.05), respectively. 235delC was the hotspot mutation region in NSD patients of the two ethnicities, whereas 35delG was the mutation hotspot in Uyghur patients. 187delG mutation was detected for the first time in Uyghur NSD patients and considered as an unreported pathological variant of GJB2. SLC26A4 mutation was found in 2.01% of Uyghur patients and 14.57% of Han Chinese patients (P < 0.05), respectively. The frequencies of mtDNA 12S rRNA mutation in Uyghur and Han Chinese patients were 2.01% and 2.65% (P > 0.05), respectively. The NSD patients exhibited a low frequency of GJB3 mutation regardless of ethnicity. CONCLUSION: Prevalent deafness-associated gene mutations in the nine loci studied were less frequently detected in Uyghur NSD patients than in Han Chinese patients. GJB2 was the most common mutant gene in the two ethnicities, whilst the two ethnicities differed substantially in hotspot mutations. A low-frequency SLC26A4 mutation was detected in Uyghur NSD patients. Uyghur NSD patients differed significantly from Han Chinese patients in gene mutation profile.

Comparison of disability rates among older adults in aggregated and separate Asian American/Pacific Islander subpopulations.

OBJECTIVES: We assessed the prevalence and adjusted odds of 4 types of disability among 7 groups of older Asian American/Pacific Islander (AAPI) subpopulations, both separately and aggregated, compared with non-Hispanic Whites. METHODS: Data were from the nationally representative 2006 American Community Survey, which included institutionalized and community-dwelling Hawaiian/Pacific Islander (n = 524), Vietnamese (n = 2357), Korean (n = 2082), Japanese (n = 3230), Filipino (n = 5109), Asian Indian (n = 2942), Chinese (n = 6034), and non-Hispanic White (n = 641 177) individuals aged 55 years and older. The weighted prevalence, population estimates, and odds ratios of 4 types of disability (functional limitations, limitations in activities of daily living, cognitive problems, and blindness or deafness) were reported for each group. RESULTS: Disability rates in older adults varied more among AAPI subpopulations than between non-Hispanic Whites and the aggregated Asian group. Asian older adults had, on average, better disability outcomes than did non-Hispanic Whites. CONCLUSIONS: This study provides the strongest evidence to date that exclusion of institutionalized older adults minimizes disparities in disabilities between Asians and Whites. The aggregation of Asians into one group obscures substantial subgroup variability and fails to identify the most vulnerable groups (e.g., Hawaiian/Pacific Islanders and Vietnamese).

Emotion as Motivator: Parents, Professionals and Diagnosing Childhood Deafness.

Diagnosing deafness is a culturally situated practice generating considerable research in health sciences but limited work in anthropology. Diagnosis fast-tracks parents into a medical and education pathway but can also create tension for parents and professionals. Drawing on ethnographic fieldwork, we argue that in this biomedical context, emotions are often understood by professionals as impairing for parents, and hence problematic for the treatment process. In contrast emotions are characterized by parents as motivational and tools for decision making on a pathway that is experienced as a source of stress.