Audiology by Alexandros G. Sfakianakis

Τρίτη 16 Μαΐου 2017

Gaining a Deeper Understanding into Optimal Outcomes for Those with Autism Spectrum Disorder

How do the brains of those who have had optimal outcomes from early therapy for autism spectrum disorder (ASD) function? Is it different from those who have not had optimal outcomes or even from those without ASD? This is what two researchers from the University of Connecticut, Drs. Deborah Fein and Inge-Marie Eigstiare, are currently exploring through the use of functional magnetic resonance imaging. They define optimal outcomes as those who appear to no longer have any ASD symptoms.

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Tinnitus Frequency Test

In late 2016, news of the tragic suicide of Craig Gill, drummer of the influential British band Inspiral Carpets, shocked fans of alternative rock. A new report published by the BBC about the drummer’s inquest suggests that he may have been besieged by a terrible and exasperating case of tinnitus.

Craig Gill was part of the seminal 1990s Manchester scene that successfully combined English pop with electronic dance music, psychedelic rock, synthesizers, and lots of distortion. This scene borrowed from New Order and The Smiths to create a new style of music that was a mainstay of alternative rock until the late 20th century.

According to news reports, Gill and his family had planned to attend a taping of a children’s television show, but the musician skipped the session because he was not feeling well. When his wife returned home later that day, she found Gill hanging from the ceiling. Since he did not have a history of depression and did not leave a suicide note, his death was deemed to have been motivated by a completely spontaneous decision that could have been exacerbated by tinnitus.

Understanding Tinnitus

The late Inspiral Carpets drummer probably had an extreme case of tinnitus, a condition that involves hearing a constant ringtone similar to what happens to most people after a loud rock concert. Tinnitus is not always related to hearing loss, but it can trigger masked depressive episodes and severe anxiety.

People who suffer from this condition have treatment options that start with a tinnitus frequency test. The treatment involves targeting neurons that are not working the way they should be as they convert vibrations into sound waves that are brains assimilate.

What a Tinnitus Frequency Test Reveals

Pure tone tinnitus is the continuous ringing or train whistle sound that drives people crazy. The tones may be different from time to time, but they remain constant from just a few minutes to a few hours. Audiology researchers have come up with methods of matching and notching the frequency and pitch of tinnitus for therapeutic purposes.

The first step of treatment involves a tinnitus frequency test, which can be performed with web-based and mobile apps such as AudioNotch. The test helps to determine the frequency range that patients should listen to on a daily basis; once this range is established, white noise, music or nature sounds can be generated at certain pitches and frequencies that match the hearing conditions.

Sound therapy has been proven to be very effective for tinnitus patients, and more research is being published about its effectiveness.

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A case report on the exceptional coincidence of two inherited renal disorders: ADPKD and Alport syndrome .

A case report on the exceptional coincidence of two inherited renal disorders: ADPKD and Alport syndrome .

Clin Nephrol. 2017 May 15;:

Authors: Ebner K, Reintjes N, Feldkötter M, Körber F, Nagel M, Dötsch J, Hoppe B, Weber L, Beck B, Liebau M

Abstract
Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic cause of dialysis-requiring end-stage renal disease in adults and is characterized by the slowly progressing replacement of renal tissue by focal macrocysts. Alport syndrome (AS; hereditary nephritis) is a rare, inherited disorder of the basement membrane associated with hematuria, proteinuria, and loss of kidney function as well as sensorineural hearing loss and ocular abnormalities. Here, we report on a family in which both ADPKD and AS are present. In a male patient, both -ADPKD and AS coincided. This patient shows the very rare coexistence of two severe, inherited renal disorders and illustrates the importance of considering additional diagnoses in the setting of positive family history for a common hereditary disorder. .

PMID: 28502323 [PubMed - as supplied by publisher]

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Congenital Deafness Alters Sensory Weighting for Postural Control.

Congenital Deafness Alters Sensory Weighting for Postural Control.

Ear Hear. 2017 May 12;:

Authors: Maheu M, Sharp A, Pagé S, Champoux F

Abstract
OBJECTIVES: The aim of this study was to examine sensory reweighting for postural control in congenitally deaf individuals.
DESIGN: We studied 14 controls and 14 deaf age-matched individuals using a force platform and the modified clinical test of sensory interaction and balance protocol. Both groups performed the postural tasks without auditory cues (with hearing protectors for controls or without hearing devices for the deaf).
RESULTS: The results confirmed poorer postural stability in the deaf. More importantly, the data suggest that congenitally deaf individuals rely more on somatosensory information for postural control than controls.
CONCLUSIONS: This increased somatosensory reliance may increase postural sway when it comes to more challenging postural conditions.

PMID: 28504979 [PubMed - as supplied by publisher]

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Homozygous EDNRB mutation in a patient with Waardenburg syndrome type 1.

Homozygous EDNRB mutation in a patient with Waardenburg syndrome type 1.

Auris Nasus Larynx. 2017 May 11;:

Authors: Morimoto N, Mutai H, Namba K, Kaneko H, Kosaki R, Matsunaga T

Abstract
OBJECTIVE: To examine and expand the genetic spectrum of Waardenburg syndrome type 1 (WS1).
METHODS: Clinical features related to Waardenburg syndrome (WS) were examined in a five-year old patient. Mutation analysis of genes related to WS was performed in the proband and her parents. Molecular modeling of EDNRB and the p.R319W mutant was conducted to predict the pathogenicity of the mutation.
RESULTS: The proband showed sensorineural hearing loss, heterochromia iridis, and dystopia canthorum, fulfilling the clinical criteria of WS1. Genetic analyses revealed that the proband had no mutation in PAX3 which has been known as the cause of WS1, but had a homozygous missense mutation (p.R319W) in endothelin receptor type B (EDNRB) gene. The asymptomatic parents had the mutation in a heterozygote state. This mutation has been previously reported in a heterozygous state in a patient with Hirschsprung's disease unaccompanied by WS, but the patient and her parents did not show any symptoms in gastrointestinal tract. Molecular modeling of EDNRB with the p.R319W mutation demonstrated reduction of the positively charged surface area in this region, which might reduce binding ability of EDNRB to G protein and lead to abnormal signal transduction underlying the WS phenotype.
CONCLUSIONS: Our findings suggested that autosomal recessive mutation in EDNRB may underlie a part of WS1 with the current diagnostic criteria, and supported that Hirschsprung's disease is a multifactorial genetic disease which requires additional factors. Further molecular analysis is necessary to elucidate the gene interaction and to reappraise the current WS classification.

PMID: 28502583 [PubMed - as supplied by publisher]

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