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The amount of time adolescents spend communicating via digital technologies such as smartphones has led to concerns that computer-mediated communication (CMC) is displacing face-to-face (FtF) interactions and disrupting social development. Although many studies have examined CMC in adolescents' relationships with friends, few studies have examined the role of CMC in adolescents' renegotiation of closeness and autonomy with parents. To examine this issue, we administered an online daily diary with 169 U.S. adolescents to estimate the time they spend in CMC and FtF interactions and the number of texts they exchange with friends and parents. On the last day of the survey, we asked adolescents about their emotional closeness to friends and parents and their balance of closeness and volition with parents. Overall, we found more evidence for social stimulation than displacement effects of CMC. Texts and CMC time with friends predicted friend closeness after accounting for FtF time with friends; texts with parents predicted parent closeness after accounting for FtF time with parents. We also found support for our hypothesis that CMC would be associated with greater adolescent volition. CMC time with parents predicted greater volitional dependence (volition plus closeness) whereas texts with friends predicted greater independent decision-making (volition plus distance). We discuss how communication technologies are integrated into U.S. adolescents' relationships with friends and parents and how CMC can facilitate, rather than stifle, adolescents' adjustment of autonomy-relatedness with parents and their construction of emotional closeness with friends. (PsycINFO Database Record (c) 2019 APA, all rights reserved).

Background: Biallelic variants in the major facilitator superfamily domain containing 8 gene (MFSD8) are associated with distinct clinical presentations that range from typical late‐infantile neuronal ceroid lipofuscinosis type 7 (CLN7 disease) to isolated adult‐onset retinal dystrophy. Classic late‐infantile CLN7 disease is a severe, rare neurological disorder with an age of onset typically between 2 and 6 years, presenting with seizures and/or cognitive regression. Its clinical course is progressive, leading to premature death, and often includes visual loss due to severe retinal dystrophy. In rare cases, pathogenic variants in MFSD8 can be associated with isolated non‐syndromic macular dystrophy with variable age at onset, in which the disease process predominantly or exclusively affects the cones of the macula and where there are no neurological or neuropsychiatric manifestations. Methods: Here we present longitudinal studies on four adult‐onset patients who were biallelic for four MFSD8 variants. Results: Two unrelated patients who presented with adult‐onset ataxia and had macular dystrophy on examination were homozygous for a novel variant in MFSD8 NM_152778.4: c.935T>C p.(Ile312Thr). Two other patients presented in adulthood with visual symptoms, and one of these developed mild to moderate cerebellar ataxia years after the onset of visual symptoms. Conclusions: Our observations expand the knowledge on biallelic pathogenic MFSD8 variants and confirm that these are associated with a spectrum of more heterogeneous clinical phenotypes. In MFSD8‐related disease, adult‐onset recessive ataxia can be the presenting manifestation or may occur in combination with retinal dystrophy. [ABSTRACT FROM AUTHOR]

The amount of time adolescents spend communicating via digital technologies such as smartphones has led to concerns that computer-mediated communication (CMC) is displacing face-to-face (FtF) interactions and disrupting social development. Although many studies have examined CMC in adolescents' relationships with friends, few studies have examined the role of CMC in adolescents' renegotiation of closeness and autonomy with parents. To examine this issue, we administered an online daily diary with 169 U.S. adolescents to estimate the time they spend in CMC and FtF interactions and the number of texts they exchange with friends and parents. On the last day of the survey, we asked adolescents about their emotional closeness to friends and parents and their balance of closeness and volition with parents. Overall, we found more evidence for social stimulation than displacement effects of CMC. Texts and CMC time with friends predicted friend closeness after accounting for FtF time with friends; texts with parents predicted parent closeness after accounting for FtF time with parents. We also found support for our hypothesis that CMC would be associated with greater adolescent volition. CMC time with parents predicted greater volitional dependence (volition plus closeness) whereas texts with friends predicted greater independent decision-making (volition plus distance). We discuss how communication technologies are integrated into U.S. adolescents' relationships with friends and parents and how CMC can facilitate, rather than stifle, adolescents' adjustment of autonomy-relatedness with parents and their construction of emotional closeness with friends.

Importance:Mutations in genes traditionally associated with syndromic retinal disease are increasingly found to cause nonsyndromic inherited retinal degenerations. Mutations in CLN3 are classically associated with juvenile neuronal ceroid lipofuscinosis, a rare neurodegenerative disease with early retinal degeneration and progressive neurologic deterioration, but have recently also been identified in patients with nonsyndromic inherited retinal degenerations. To our knowledge, detailed clinical characterization of such cases has yet to be reported. Objective:To provide detailed clinical, electrophysiologic, structural, and molecular genetic findings in nonsyndromic inherited retinal degenerations associated with CLN3 mutations. Design, Setting, and Participants:A multi-institutional case series of 10 patients who presented with isolated nonsyndromic retinal disease and mutations in CLN3. Patient ages ranged from 16 to 70 years; duration of follow-up ranged from 3 to 29 years. Main Outcomes and Measures:Longitudinal clinical evaluation, including full ophthalmic examination, multimodal retinal imaging, perimetry, and electrophysiology. Molecular analyses were performed using whole-genome sequencing or whole-exome sequencing. Electron microscopy studies of peripheral lymphocytes and CLN3 transcript analysis with polymerase chain reaction amplification were performed in a subset of patients. Results:There were 7 females and 3 males in this case series, with a mean (range) age at last review of 37.1 (16-70) years. Of the 10 patients, 4 had a progressive late-onset rod-cone dystrophy, with a mean (range) age at onset of 29.7 (20-40) years, and 6 had an earlier onset rod-cone dystrophy, with a mean (range) age at onset of 12.1 (7-17) years. Ophthalmoscopic examination features included macular edema, mild intraretinal pigment migration, and widespread atrophy in advanced disease. Optical coherence tomography imaging demonstrated significant photoreceptor loss except in patients with late-onset disease who had a focal preservation of the ellipsoid zone and outer nuclear layer in the fovea. Electroretinography revealed a rod-cone pattern of dysfunction in 6 patients and were completely undetectable in 2 patients. Six novel CLN3 variants were identified in molecular analyses. Conclusions and Relevance:This report describes detailed clinical, imaging, and genetic features of CLN3-associated nonsyndromic retinal degeneration. The age at onset and natural progression of retinal disease differs greatly between syndromic and nonsyndromic CLN3 disease, which may be associated with genotypic differences.

In 1972, Glenn Anderson collaborated with New York University colleague Frank Bowe to publish an American Annals of the Deaf article titled "Racism Within the Deaf Community" (Anderson & Bowe, 1972). It was written, in part, due to the influence of the Civil Rights Movement of the 1960s, which affected both the Black Deaf and Black hearing communities, as well as in response to Anderson's experiences with a Deaf club in Detroit. Given that 52 years have passed since the article was published, this updated version, coauthored with Gallaudet University colleague Lindsay Dunn, addresses the following issues, among others: racial inequity in the educational and employment attainment of Black Deaf persons, their personal experiences with institutional and systemic racism, and their perspectives on what must be done to progress toward dismantling institutional and systemic racism in the Deaf community today and tomorrow. [ABSTRACT FROM AUTHOR]

One of the challenges of gaining a broader appreciation of Deaf history is the need to examine the contributions of Deaf people of color. This article summarizes the contributions of black Deaf individuals to the scholarly and public history of the period from the 1980s to the present. We begin with the 1980s since that was the era when the landmark book by Ernest Hairston and Linwood Smith, "Black and Deaf in America: Are We That Different?" was published and the National Black Deaf Advocates organization was founded. We then progress through the 1990s and 2000s, noting historical developments such as the advancement of black Deaf individuals to key leadership positions, expanded collaborative efforts between Gallaudet University and the black Deaf community, and the growth of black Deaf history scholarship, which addresses a broad spectrum of topics. We conclude that these historical developments, among others, during these three and a half decades gave impetus to the emergence of a dynamic collective of black Deaf scholars, leaders, and artists to further contribute to our understanding and appreciation of Deaf history.

It is well established that somatic genomic changes can influence phenotypes in cancer, but the role of adaptive changes in developmental disorders is less well understood. Here we have used next-generation sequencing approaches to identify de novo heterozygous mutations in sterile a motif domain--containing protein 9 (SAMD9, located on chromosome 7q21.2) in 8 children with a multisystem disorder termed MIRAGE syndrome that is characterized by intrauterine growth restriction (IUGR) with gonadal, adrenal, and bone marrow failure, predisposition to infections, and high mortality. These mutations result in gain of function of the growth repressor product SAMD9. Progressive loss of mutated SAMD9 through the development of monosomy 7 (-7), deletions of 7q (7q-), and secondary somatic loss-of-function (nonsense and frameshift) mutations in SAMD9 rescued the growth-restricting effects of mutant SAMD9 proteins in bone marrow and was associated with increased length of survival. However, 2 patients with -7 and 7q-developed myelodysplastic syndrome, most likely due to haploinsufficiency of related 7q21.2 genes. Taken together, these findings provide strong evidence that progressive somatic changes can occur in specific tissues and can subsequently modify disease phenotype and influence survival. Such tissue-specific adaptability may be a more common mechanism modifying the expression of human genetic conditions than is currently recognized., Introduction Sterile a motif domain--containing protein 9 (SAMD9, OMIM 610456) is a 1,589-amino acid protein that is encoded by a gene on the long arm of chromosome 7 (7q21.2) (1). [...]

One way of enhancing appreciation of cultural diversity within the American Deaf community is by collecting and analyzing stories about Deaf people of color. The authors examined biographical profiles in national print and visual media published since 1988. The materials focused on life stories of individuals identified as Deaf persons of color (e.g., Deaf and identified as Black/African American, Hispanic/Latino, Asian/Pacific Islander, or American Indian/Alaskan Native). Anecdotes were selected that provided a sociocultural rather than medical or pathological perspective and reflected the featured individual's viewpoint. Four categories of shared experiences emerged: experiences related to overcoming obstacles to educational opportunities, stories about individuals who influenced the direction the featured individual took in life, childhood and family experiences, and experiences relating to stereotypes, cultural conflicts, or discrimination. The authors conclude by discussing lessons and messages derived from the stories.

As a group, deaf students attending elementary and secondary schools are more diverse and multicultural than the general school-age population. The purpose of this study is to provide deaf students of color with information about positive role models and success stories relevant to their own ethnic cultures as well as the mainstream deaf and hearing cultures. By collecting and analyzing stories about deaf people of color, the authors attempt to identify common threads or experiences shared by the diverse groups that comprise the community. One common thread is the experience of interacting in multiple cultures--one's own hearing racial or ethnic group, one's deaf racial or ethnic group, the mainstream deaf community, and the mainstream, predominately White, hearing community. Based on the documentation of these interactions, deaf people of color share similar experiences with overcoming obstacles to educational opportunity, key figures or role models who influenced their life choices, childhood and family interactions, and in dealing with stereotypes, cultural conflicts, and discrimination.

The authors report on a national survey of administrators and program specialists at 43 state vocational rehabilitation (VR) agencies concerning the impact of federal employment legislation and rehabilitation policies on the provision of services to consumers who are deaf or hard of hearing. The article focuses on 5 initiatives enacted to enhance efforts to help people with disabilities achieve competitive employment and self-sufficiency: the Workforce Investment Act of 1998, Order of Selection policies established by state agencies, Interagency Agreements between VR and postsecondary programs, the Comprehensive System of Personnel Development, and the Ticket to Work and Work Incentives Improvement Act of 1999. The article concludes with a summary of state agencies' priorities and needs in regard to technical assistance to enhance the provision of VR services. (Contains 6 tables.)

Interviews with 22 employed and 18 unemployed individuals with deafness indicated that both environmental and personal characteristics influenced their success or failure in advancing on the job and in getting job accommodations. Implications for employers, employees who are deaf, and service providers are discussed. (Author/JDD)