Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding α-N-acetylglucosaminidase

The Sanfilippo syndrome type B is an autosomal recessive disorder caused by mutation in the gene (NAGLU) encoding α-N-acetylglucosaminidase, a lysosomal enzyme required for the stepwise degradation of heparan sulfate. The most serious manifestations are profound mental retardation, intractable behavior problems, and death in the second decade. To generate a model for studies of pathophysiology and of potential therapy, we disrupted exon 6 of Naglu, the homologous mouse gene. Naglu−/− mice were healthy and fertile while young and could survive for 8–12 mo. They were totally deficient in α-N-acetylglucosaminidase and had massive accumulation of heparan sulfate in liver and kidney as well as secondary changes in activity of several other lysosomal enzymes in liver and brain and elevation of gangliosides GM2 and GM3 in brain. Vacuolation was seen in many cells, including macrophages, epithelial cells, and neurons, and became more prominent with age. Although most vacuoles contained finely granular material characteristic of glycosaminoglycan accumulation, large pleiomorphic inclusions were seen in some neurons and pericytes in the brain. Abnormal hypoactive behavior was manifested by 4.5-mo-old Naglu−/− mice in an open field test; the hyperactivity that is characteristic of affected children was not observed even in younger mice. In a Pavlovian fear conditioning test, the 4.5-mo-old mutant mice showed normal response to context, indicating intact hippocampal-dependent learning, but reduced response to a conditioning tone, perhaps attributable to hearing impairment. The phenotype of the α-N-acetylglucosaminidase-deficient mice is sufficiently similar to that of patients with the Sanfilippo syndrome type B to make these mice a good model for study of pathophysiology and for development of therapy.

Ototoxicidade

Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2014

Beggar and king /

The author has a hearing impairment.

Rehabilitation approaches to promote successful unilateral and bilateral fittings and avoid inappropriate prescription

Successful hearing aid fitting occurs when the person fitted wears the aid/s on a regular basis and reports benefit when the aid/s is used. A significant number of people fitted with unilateral or bilateral hearing aids for the first time do not continue to use one or both aids in the long term. In this paper, factors consistently found in previous research to be associated with unsuccessful fitting are explored; in particular, the negative attitudes of some clients towards hearing aids, their lack of motivation for seeking help, inability to identify goals for rehabilitation, and problems with the management of the devices. It is argued here that success in hearing aid fitting involves the same dynamics as found with other assistive technologies (e.g., wheelchairs, walking frames), and is dependent on a match between the characteristics of a prospective user, the technology itself, and the environments of use (Scherer, 2002). It is recommended that for clients who identify concerns about hearing aids, or who are unsure about when they would use them, and/or are likely to have problems with aid management, only one aid be fitted in the first instance, if hearing aid fitting is to proceed at all. Rehabilitation approaches to promote successful fitting are discussed in light of results obtained from a survey of clients who experienced both successful and unsuccessful aid fitting.

Conversation repair and adult cochlear implantation: A qualitative case study

Conversation breakdown and repair has been suggested to be a common site of the disability arising from acquired hearing impairment in adults. This qualitative case study reports on certain consequences of the use of general versus specific conversation repair initiators for the resolution of repair sequences. The 47 repair sequences analysed in this paper arose in a single 20-minute free and unstructured conversation between an adult bilateral cochlear implantee and his wife, audio-recorded in a clinic setting. The repairs analysed in this paper were undertaken in response to either general (n = 18) or specific (n = 29) repair requests. No difference was found in the number of turns taken to resolve repairs in response to general or specific repair requests. Qualitative analysis demonstrated that uttering the repair initiator in the immediate vicinity of the miscommunicated portion of talk provided the primary cue to the conversation partner about the location and the content of what had been misunderstood. These preliminary findings imply a change to rehabilitation counselling offered to familiar communication partners. Copyright © 2006 John Wiley & Sons, Ltd.

Comparison of cognitive screening tasks in an elderly veteran population

Screening measures of cognitive status are traditionally administered face to face. In survey research such screening mcasurcs, while desirable, must he administered by other means. As part of pilot survey research on a New Zealand war veteran population with some degree of hearing impairment, a face-to-face administration of the Mini-Mental State Examination (MMSE; Folstein, Folstein and McHugh, 1975) and a telephoneadministration of the Telephonc Interview for Cognitive Status (TICS; Brandt, Spencer and Folstein. 1988) were compared. Brandt ('/ u/. (1988) reported a very strong linear relationship between scores on the MMSE and the TICS (r=0.94, p < .0001) in an Alzheimer patient population with a mcan MMSE score of 12.06 (6.78). For a sample of 44 mildly to moderately hearing impaired veterans, with a mean MMSE score of 25.52 (2.16) and a mean TICS score of 32.52(5.43), the correlation between the instruments was .39. When veterans who wore hearing aids during the telephone interview ( N = 2 2 ) wcrc separated out from those who did not, the correlation rose to .54. Age was ncgatively correlated with the MMSE ( r = -0.41, / I < .01) and not significantly correlated with the TICS. Education level was unrelated to either measure. The data suggest that the wearing or non-wearing of hearing aids may contribute significantly to the reliability of the TICS. Furthermore, on non-demented populations with a less restricted range of scores. the correlation of the MMSE and TICS may he lower than previously reported.

Childhood auditory processing disorder as a developmental disorder:the case for a multi-professional approach to diagnosis and management

Auditory processing disorder (APD) is diagnosed when a patient presents with listening difficulties which can not be explained by a peripheral hearing impairment or higher-order cognitive or language problems. This review explores the association between auditory processing disorder (APD) and other specific developmental disorders such as dyslexia and attention-deficit hyperactivity disorder. The diagnosis and aetiology of APD are similar to those of other developmental disorders and it is well established that APD often co-occurs with impairments of language, literacy, and attention. The genetic and neurological causes of APD are poorly understood, but developmental and behavioural genetic research with other disorders suggests that clinicians should expect APD to co-occur with other symptoms frequently. The clinical implications of co-occurring symptoms of other developmental disorders are considered and the review concludes that a multi-professional approach to the diagnosis and management of APD, involving speech and language therapy and psychology as well as audiology, is essential to ensure that children have access to the most appropriate range of support and interventions.

Percepção da equipe de saúde, discentes e usuários sobre a comunicação com indivíduos surdos na atenção primária

The study aimed to identify in the professionals and students of health courses that work in a health Basic Unit in the city of Natal/RN their perceptions of the care of deaf patients, and with the population's needs with hearing loss in relation to health care. This is a cross-sectional, exploratory, descriptive study, conducted between April to July 2014, with a population composed of 21 health professionals, 17 students and 8 deaf users. For data collection, we used a structured questionnaire with open and closed questions applied to groups composed of health professionals (doctors, dentists, nurses and health workers) and students of medical schools, nursing, physical education, nutrition and social service. The professionals/students answered a semi-structured questionnaire with open and closed questions concerning the possible difficulties the care of the deaf and hearing impaired. Data collection with deaf users was conducted through filmed interview for the Brazilian Sign Language (Libras) could be interpreted as to the Portuguese by the researcher. With the latter it was conducted a survey of their reactions when looking for a care in the health service. Regarding the profile of identification of the subjects, it was analyzed by simple descriptive statistics (absolute and relative frequencies). The open questions were analyzed through the content analysis technique which allowed the categorization process preserving all the points raised in the discussion so that the lines were representative of the whole. When asked about the professionals and students attitude used to communicate with deaf patients possible the following categories emerged: the "writing", the "gestures" and the "third party assistance". With regard of the deaf, when asked about their experiences in seeking care in health, the elucidated categories were: "quality of care to the hearing impaired", "communication with the hearing impaired adequacy" and "dependence on third parties." The closed questions were measured and adapted to the 5 degrees of variation Likert Scale, which comprised three of these issues: degree of difficulty in communication to meet a patient with hearing loss (minimum to great difficulty); feeling of comfort while using sign language (minimum to severe discomfort); and knowledge of the Law 10.436, which provides for the Brazilian Sign Language (Libras) (low knowledge to entirely clear). The data collected with professionals and students revealed some misunderstanding and discomfort in health care for deaf patients, reality also evidenced in the opinion of the deaf participants. This study revealed problems in communication, resulting in negative consequences in serving this population. This diagnosis may be relevant to public policy development and curriculum guidelines essential to the training of health professionals, inclusion and improving assistance to deaf.

Kommunikative Partizipation und Integrationserleben hörgeschädigter Schülerinnen und Schüler an einer Schwerpunktschule

Schwerpunktschulen, die von einer größeren Anzahl von hörgeschädigten Schülerinnen und Schülern besucht werden, stellen in Bezug auf die psychosoziale Entwicklung hörgeschädigter Kinder eine in den letzten Jahren vermehrt in die Diskussion gebrachte alternative Bildungsoption zur Einzelinklusion dar. In der vorliegenden Fragebogenstudie wurden 35 Schülerinnen und Schüler einer Schwerpunktschule in Bezug auf ihre erlebte Partizipation im Unterricht, ihr Integrationserleben sowie auf Verhaltensauffälligkeiten und Lebensqualität untersucht. Die Ergebnisse zeigen insgesamt eine positive Entwicklung in allen überprüften Bereichen mit behinderungsspezifischen Besonderheiten, die in der pädagogischen Begleitung hörgeschädigter Kinder beachtet werden müssen. Vergleiche zu Daten aus anderen Studien mit einzelintegrierten hörgeschädigten Kindern ergeben keine Unterschiede. Pädagogische Konsequenzen sowie Herausforderungen für weiterführende Studien werden diskutiert. (DIPF/Orig.)

Percepcja walorów turystycznych przez osoby niesłyszące na tle słyszącej części społeczeństwa w Polsce

The article aims at showing similarities and differences in the perception of tourist attractions among tourists with and without hearing impairment. The first part depicts perception problems from the theoretical point of view. Complexities of studies on the perception system have been described. The perception itself is channelled via senses, including mainly sight (reception of approximately 87% of outside factors), hearing (7%), smell (3–5%), touch (1–5%) and taste (1%) (Visual Landscape… 1994, after: Pietrzak 2008). The data suggests that people with hearing impairment, owing to dominative position of sight perception and to other senses (except hearing), should perceive outside factors similarly to people with no hearing impairment, also in terms of tourist attractions. Is this really a fact? The attempt to answer this question resulted in conducting questionnaire study among the tourists, both with and without hearing impairment. The data was collected, based on questionnaire study, conducted nationwide in years 2004–2010 among the 292 deaf (for whom Polish Sign Language is the main method of communication) and 1780 people without hearing impairment. The aim of this study was to reveal, if tourists with hearing dysfunction have different tourist preferences than those without any hearing disabilities and to indicate which tourist attractions are the most significant for tourists with hearing impairment. The percentage values and the level of signi-ficance (p), calculated on the basis of Pearson’s chi-square test (with border value of p ≤ 0.05), were used in the analysis It was determined, that in case of perception of natural tourist attractions, there is a major similarity (both, people with and without hearing impairment indicated such attractions as sea, lake, clean natural environment, natural landscape, climate and diversified land relief, including mountains). As far as cultural attractions are concerned, a similarity in perception of both studied groups can also be observed. The most popular attractions include those, which can be perceived with sight: monuments, historic landmarks, museums, open-air museums, places of worship and modern architecture. The biggest differences are related to culture and entertainment, which indicates a social aspect of the disability of people with hearing impairment (a discomfort of being in environ-ment, where sound is the main carrier of information). The conclusions from the conducted analyses are applicative in their nature. They contain hints for tour operators, involved in creating tourist offer for people using Polish Sign Language, taking into account their preferences, perception abilities and ensuring pleasant tourist experience.

Ear-related problems among children attending the paediatric and otorhinolaryngology out-patients clinics of the University of Nigeria Teaching Hospital, Enugu.

Background: Ear related diseases are commonly seen in clinics worldwide especially among children. They are associated with significant morbidity and frequent hospital visits. Limited data exists regarding the burden of ear disease among Nigerian children. Objective: To determine the prevalence of ear-related problems among children presenting at the Paediatric and Otorhinolaryngology clinics of the University of Nigeria Teaching Hospital, Enugu. Materials and methods: This was a cross-sectional study conducted at the Paediatric and Otorhinolaryngology Clinics of the University of Nigeria Teaching Hospital Enugu. All children aged 0 and 17 years presenting between 1st June and 31st August 2006 with ear-related problems were enrolled consecutively into the study. Data analysis was by SPSS version 11. Results: Three thousand and twenty-one children were seen during the study period. Out of these, 248 children (8.2%) presented with ear-related problems. Chronic otitis media (30.5%), acute otitis media (29.9%), cerumen auris (11.3%), otitis externa(10.1%), hearing impairment (7.3%) and foreign body in the ear (5.7%) were the most commonly diagnosed ear-related problems. Conclusion: Ear-related problems among children presenting at the UNTH Enugu were not uncommon. However, otitis media was the most commonly diagnosed ailment affecting the ears in children.