Δευτέρα 12 Ιουνίου 2017

Postural control in blind individuals: A systematic review

Publication date: Available online 12 June 2017
Source:Gait & Posture
Author(s): Rodolfo Borges Parreira, Luanda André Collange Grecco, Claudia Santos Oliveira
Postural control (PC) requires the interaction of the three sensory systems for a good maintenance of the balance, and in blind people, lack of visual input can harm your PC. Thus the objective is to perform a literature review concerning role of sight in the maintenance of PC and the adaptation of brain structures when vision is absent. Studies were searched from Pubmed, and EMBASE that included individuals with congenital blindness. Articles studying person with acquired blindness or low vision was excluded from this review. 26 out of 322 articles were selected for review, and we found that 1) blind individuals exhibit PC deficits and that is compensated by the intensification of the remaining systems; 2) Neuroplastic adaptation occurs throughout the entire cerebral cortex; and 3) Sensorimotor stimulation and transcranial direct current stimulation seem to be a rehabilitation strategy. According to this review, the findings suggest that improved remaining sensations in the presence of adaptations and neuroplasticity, does not translate into better postural control performance. Regarding rehabilitation strategies, more studies are needed to show which therapeutic modality best contributes to postural control.



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Postural control in blind individuals: A systematic review

Publication date: Available online 12 June 2017
Source:Gait & Posture
Author(s): Rodolfo Borges Parreira, Luanda André Collange Grecco, Claudia Santos Oliveira
Postural control (PC) requires the interaction of the three sensory systems for a good maintenance of the balance, and in blind people, lack of visual input can harm your PC. Thus the objective is to perform a literature review concerning role of sight in the maintenance of PC and the adaptation of brain structures when vision is absent. Studies were searched from Pubmed, and EMBASE that included individuals with congenital blindness. Articles studying person with acquired blindness or low vision was excluded from this review. 26 out of 322 articles were selected for review, and we found that 1) blind individuals exhibit PC deficits and that is compensated by the intensification of the remaining systems; 2) Neuroplastic adaptation occurs throughout the entire cerebral cortex; and 3) Sensorimotor stimulation and transcranial direct current stimulation seem to be a rehabilitation strategy. According to this review, the findings suggest that improved remaining sensations in the presence of adaptations and neuroplasticity, does not translate into better postural control performance. Regarding rehabilitation strategies, more studies are needed to show which therapeutic modality best contributes to postural control.



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Postural control in blind individuals: A systematic review

Publication date: Available online 12 June 2017
Source:Gait & Posture
Author(s): Rodolfo Borges Parreira, Luanda André Collange Grecco, Claudia Santos Oliveira
Postural control (PC) requires the interaction of the three sensory systems for a good maintenance of the balance, and in blind people, lack of visual input can harm your PC. Thus the objective is to perform a literature review concerning role of sight in the maintenance of PC and the adaptation of brain structures when vision is absent. Studies were searched from Pubmed, and EMBASE that included individuals with congenital blindness. Articles studying person with acquired blindness or low vision was excluded from this review. 26 out of 322 articles were selected for review, and we found that 1) blind individuals exhibit PC deficits and that is compensated by the intensification of the remaining systems; 2) Neuroplastic adaptation occurs throughout the entire cerebral cortex; and 3) Sensorimotor stimulation and transcranial direct current stimulation seem to be a rehabilitation strategy. According to this review, the findings suggest that improved remaining sensations in the presence of adaptations and neuroplasticity, does not translate into better postural control performance. Regarding rehabilitation strategies, more studies are needed to show which therapeutic modality best contributes to postural control.



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Clinical and genetic analysis of Indian patients with NDP-related retinopathies.

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Clinical and genetic analysis of Indian patients with NDP-related retinopathies.

Int Ophthalmol. 2017 Jun 10;:

Authors: Sudha D, Ganapathy A, Mohan P, Mannan AU, Krishna S, Neriyanuri S, Swaminathan M, Rishi P, Chidambaram S, Arunachalam JP

Abstract
PURPOSE: NDP-related retinopathies are a group of X-linked disorders characterized by degenerative and proliferative changes of the neuroretina, occasionally accompanied with varying degrees of mental retardation and sensorineural hearing loss. NDP is the predominant gene associated with NDP-related retinopathies. The purpose of this study was to report the clinical and genetic findings in three unrelated patients diagnosed with NDP-related retinopathies.
METHODS: The patients underwent complete ophthalmic examination followed by genetic analyses. NDP gene was screened by direct sequencing approach. Targeted resequencing of several other ocular genes was carried out in patient samples that either indicated NDP gene deletion or tested negative for NDP mutation. Gene quantitation analysis was performed using real-time PCR.
RESULTS: The whole NDP gene was deleted in patient I, while a missense NDP mutation, c.205T>C, was identified in patient II, and both had classical Norrie disease ocular phenotype (with no other systemic defects). Patient III who was diagnosed with familial exudative vitreoretinopathy did not show any mutation in the known candidate genes as well as in other ocular genes tested.
CONCLUSIONS: The patient with whole NDP gene deletion did not exhibit any apparent extraocular defects (like mental retardation or sensorineural hearing loss) during his first decade of life, and this is considered to be a notable finding. Our study also provides evidence emphasizing the need for genetic testing which could eliminate ambiguities in clinical diagnosis and detect carrier status, thereby aiding the patient and family members during genetic counseling.

PMID: 28602015 [PubMed - as supplied by publisher]



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AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance.

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AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance.

Audiol Neurootol. 2017 Jun 10;22(1):30-40

Authors: Lang-Roth R, Fischer-Krall E, Kornblum C, Nürnberg G, Meschede D, Goebel I, Nürnberg P, Beutner D, Kubisch C, Walger M, Volk AE

Abstract
BACKGROUND: Auditory synaptopathy/neuropathy (AS/AN) is a heterogeneous disorder, which may be caused by environmental factors like postnatal hyperbilirubinemia or by genetic factors. The genetic forms are subdivided into syndromic and non-syndromic types, and show different inheritance patterns with a strong preponderance of autosomal-recessive forms. To date, only a single locus for non-syndromic autosomal-dominant AS/AN (AUNA1) has been reported in a single family, in which a non-coding DIAPH3 mutation was subsequently described as causative.
MATERIALS AND METHODS: Here, we report detailed clinical data on a large German AS/AN family with slowly progressive postlingual hearing loss. Affected family members developed their first symptoms in their second decade. Moderate hearing loss in the fourth decade then progressed to profound hearing impairment in older family members. Comprehensive audiological and neurological tests were performed in the affected family members. Genetic testing comprised linkage analyses with polymorphic markers and a genome-wide linkage analysis using the Affymetrix GeneChip® Human Mapping 250K.
RESULTS AND CONCLUSION: We identified a large family with autosomal-dominant AS/AN. By means of linkage analyses, the AUNA1 locus was excluded, and putatively linked regions on chromosomal bands 12q24 and 13q34 were identified as likely carrying the second locus for autosomal-dominant AS/AN (AUNA2). AUNA2 is associated with a slowly progressive postlingual hearing loss without any evidence for additional symptoms in other organ systems.

PMID: 28601886 [PubMed - as supplied by publisher]



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Ponto 3 SuperPower, New Treatment Option to BAHS Patients

An overview of Ponto 3 superpower bone anchored hearing system, patient benefits, outcomes with its directionality system, and fitting aspects for professionals.

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20Q: EMA Methodology - Research Findings and Clinical Potential

an overview of Ecological Momentary Assessment (EMA), its relevance to audiology research and practice, a review of key studies using this methodology, and a look at potential future applications.

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Data Logging - Hearing Aid Behavior in the Real World

This course will examine the information available in the Starkey Inspire Data Log and applications for using that information to enhance the patient’s journey with amplification.

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Ponto 3 SuperPower, New Treatment Option to BAHS Patients

An overview of Ponto 3 superpower bone anchored hearing system, patient benefits, outcomes with its directionality system, and fitting aspects for professionals.

from #Audiology via ola Kala on Inoreader http://ift.tt/2r9GlQo
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20Q: EMA Methodology - Research Findings and Clinical Potential

an overview of Ecological Momentary Assessment (EMA), its relevance to audiology research and practice, a review of key studies using this methodology, and a look at potential future applications.

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Data Logging - Hearing Aid Behavior in the Real World

This course will examine the information available in the Starkey Inspire Data Log and applications for using that information to enhance the patient’s journey with amplification.

from #Audiology via ola Kala on Inoreader http://ift.tt/2r9db4h
via IFTTT

Ponto 3 SuperPower, New Treatment Option to BAHS Patients

An overview of Ponto 3 superpower bone anchored hearing system, patient benefits, outcomes with its directionality system, and fitting aspects for professionals.

from #Audiology via xlomafota13 on Inoreader http://ift.tt/2r9GlQo
via IFTTT

20Q: EMA Methodology - Research Findings and Clinical Potential

an overview of Ecological Momentary Assessment (EMA), its relevance to audiology research and practice, a review of key studies using this methodology, and a look at potential future applications.

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