How Do Audiologists Respond to Emotional and Psychological Concerns Raised in the Audiology Setting? Three Case Vignettes

Objectives: Emotional and psychological well-being are essential to overall health, but there is little research showing how to approach emotional and psychological concerns in the audiological setting. This study investigated audiologists’ self-reported clinical behaviors in response to emotional and psychological concerns and/or symptoms raised by audiology clients. Design: A sample of 83 Australia-based audiologists completed a survey including vignettes presenting older adults with hearing loss and experiencing symptoms consistent with either depression or grief. Content analysis was used to explore: (1) audiologists’ self-reported usual response when clients present with emotional and psychological concerns and/or symptoms in the audiological setting; (2) audiologists’ ability to identify and describe psychological symptoms; and (3) audiologists’ self-reported clinical behaviors relating to client referral for psychological support. Results: When asked to describe their usual clinical course of action in response to the vignettes, over one half the audiologists described actions that address the clients concerns related to psychological well-being. Where audiologists described how they would provide psychological support, they described modifications to the audiological rehabilitation program including involving significant others in the rehabilitation process, recommending additional support outside of the audiology setting (such as General Practitioner or psychologists), and providing emotional support and counseling. When prompted, the majority of participants recognized the two cases with depression as having a mental health condition; however, 48% of participants indicated the control case as also having a mental health condition. When asked directly, the majority of audiologists indicated that they would refer the three vignettes for specialist support; however, less than one third described referral to a General Practitioner and less than 5% described referral to a mental health professional as their normal course of action in the open response item. Twenty-five different professions/people were reported as potential sources for referral. Conclusion: These findings support the need for further training and/or resources for audiologists to enable them to appropriately detect, describe and refer for emotional and psychological concerns and/or symptoms raised by clients’ in the audiology setting

Knowledge, Beliefs, and Practices of Australian Audiologists in Addressing the Mental Health Needs of Adults With Hearing Loss

Purpose Emotional and mental health is essential to overall health, but there has been little research on how to approach emotional and mental health in the audiology setting. This study provides a preliminary investigation into the current knowledge, beliefs, and practices of Australian audiologists in addressing the emotional and mental health needs of adults with hearing loss. Method A 22-item survey using open- and closed-ended questions was completed by 95 Australian audiologists using a cross-sectional study design. Results Two thirds of audiologists described being underconfident and lacking the skills required to provide emotional support to people with hearing loss. Barriers to delivering emotional support included feeling out of their depth (56.6%), time/caseload pressures (55.3%), and the perception that the provision of emotional support was not within an audiologist's scope of practice (31.6%). Audiologists described a desire to refer clients to mental health professionals yet highlighted significant barriers, including not knowing who to refer to (54.7%), when to make a referral (49.3%), or how to make a referral (38.6%). Audiologists overwhelmingly (96%) indicated that they would like to develop their knowledge and skills associated with the provision of emotional and mental health support in the audiological setting. Conclusion Knowledge, skills, and time were identified as the key areas that require attention in order to allow audiologists to address the emotional and mental health needs of adults with hearing loss

GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy

The gamma-aminobutyric acid type A receptor β3 gene (GABRB3) encodes the β3-subunit of the gamma-aminobutyric acid type A (GABAA ) receptor, which mediates inhibitory signalling within the central nervous system. Recently, GABRB3 mutations have been identified in a few patients with infantile spasms and Lennox-Gastaut syndrome. We report the clinical and electrographic features of a novel case of GABRB3-related early-onset epileptic encephalopathy. Our patient presented with neonatal hypotonia and feeding difficulties, then developed pharmacoresistant epileptic encephalopathy, characterized by multiple seizure types from 3 months of age. Electroencephalography demonstrated ictal generalized and interictal multifocal epileptiform abnormalities. Using a SureSelectXT custom multiple gene panel covering 48 early infantile epileptic encephalopathy/developmental delay genes, a novel de novo GABRB3 heterozygous missense mutation, c.860C>T (p.Thr287Ile), was identified and confirmed on Sanger sequencing. GABRB3 is an emerging cause of early-onset epilepsy. Novel genetic technologies, such as whole-exome/genome sequencing and multiple gene panels, will undoubtedly identify further cases, allowing more detailed electroclinical delineation of the GABRB3-related genotypic and phenotypic spectra

The spectral variability of FSRQs

The optical variability of 29 flat spectrum radio quasars in SDSS Stripe 82 region are investigated by using DR7 released multi-epoch data. All FSRQs show variations with overall amplitude ranging from 0.24 mag to 3.46 mag in different sources. About half of FSRQs show a bluer-when-brighter trend, which is commonly observed for blazars. However, only one source shows a redder-when-brighter trend, which implies it is rare in FSRQs. In this source, the thermal emission may likely be responsible for the spectral behavior.Comment: 4 pages, 1 figure, to be published in Journal of Astrophysics and Astronomy, as a proceeding paper of the conference "Multiwavelength Variability of Blazars", Guangzhou, China, September 22-24, 201

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis

BACKGROUND: We sought to investigate the diagnostic yield and mutation spectrum in previously reported genes for early-onset epilepsy and disorders of severe developmental delay. METHODS: In 400 patients with these disorders with no known underlying aetiology and no major structural brain anomaly, we analysed 46 genes using a combination of targeted sequencing on an Illumina MiSeq platform and targeted, exon-level microarray copy number analysis. RESULTS: We identified causative mutations in 71/400 patients (18%). The diagnostic rate was highest among those with seizure onset within the first two months of life (39%), although overall it was similar in those with and without seizures. The most frequently mutated gene was SCN2A (11 patients, 3%). Other recurrently mutated genes included CDKL5, KCNQ2, SCN8A (six patients each), FOXG1, MECP2, SCN1A, STXBP1 (five patients each), KCNT1, PCDH19, TCF4 (three patients each) and ATP1A3, PRRT2 and SLC9A6 (two patients each). Mutations in EHMT1, GABRB3, LGI1, MBD5, PIGA, UBE3A and ZEB2 were each found in single patients. We found mutations in a number of genes in patients where either the electroclinical features or dysmorphic phenotypes were atypical for the identified gene. In only 11 cases (15%) had the clinician sufficient certainty to specify the mutated gene as the likely cause before testing. CONCLUSIONS: Our data demonstrate the considerable utility of a gene panel approach in the diagnosis of patients with early-onset epilepsy and severe developmental delay disorders., They provide further insights into the phenotypic spectrum and genotype-phenotype correlations for a number of the causative genes and emphasise the value of exon-level copy number testing in their analysis

P2 nucleotide receptors on C2C12 satellite cells

In developing muscle cells environmental stimuli transmitted by purines binding to the specific receptors are crucial proliferation regulators. C2C12 myoblasts express numerous purinergic receptors representing both main classes: P2X and P2Y. Among P2Y receptors we have found the expression of P2Y1, P2Y2, P2Y4, P2Y6 and P2Y12 family members while among P2X receptors P2X4, P2X5 and P2X7 were discovered. We have been able to show that activation of those receptors is responsible for ERK class kinase activity, responsible for regulation of cell proliferation pathway. We have also demonstrated that this activity is calcium dependent suggesting Ca2+ ions as secondary messenger between receptor and kinase regulatory system. More specifically, we do suspect that in C2C12 myoblasts calcium channels of P2X receptors, particularly P2X5 play the main role in proliferation regulation. In further development of myoblasts into myotubes, when proliferation is gradually inhibited, the pattern of P2 receptors is changed. This phenomenon is followed by diminishing of the P2Y2-dependent Ca2+ signaling, while the mRNA expression of P2Y2 receptor reminds still on the high level. Moreover, P2X2 receptor mRNA, absent in myoblasts appears in myotubes. These data show that differentiation of C2C12 cell line satellite myoblasts is accompanied by changes in P2 receptors expression pattern