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1.
Artículo en Inglés | MEDLINE | ID: mdl-38847843

RESUMEN

PURPOSE: To identify and evaluate the evidence for the benefits of cochlear implants for people with cognitive impairment or dementia in terms of speech recognition, quality of life, behavioural and psychological symptoms of dementia, cognition, function in daily life, mental well-being, and caregiver burden. METHODS: Ten electronic databases were searched systematically from inception to December 2023 for studies reporting on outcomes for cochlear implants that included adults identified with cognitive impairment, mild cognitive impairment, or dementia. RESULTS: Thirteen studies were included in this review with a combined total of 222 cochlear implant patients with cognitive impairment, mild cognitive impairment. Two studies were non-randomised controlled design, the remainder were single group studies, case series or single case studies. Evidence suggested that people with cognitive impairment benefit in terms of improved speech recognition from cochlear implants, although they may benefit less than those with healthy cognition and the degree of benefit depends on the level of cognitive impairment. There was no evidence for increased adverse events among those with cognitive impairment. There was limited or no evidence for any other outcome. CONCLUSION: People with cognitive impairment or dementia do benefit from cochlear implants. To inform policy and clinical practice, further data are needed about the broader benefits of cochlear implants for people with cognitive impairment or dementia, and referral, eligibility, and cochlear implant support needs for people with cognitive impairment and their caregivers.

2.
Eur Arch Otorhinolaryngol ; 281(8): 4001-4007, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38551698

RESUMEN

OBJECTIVES: Objective measurements to predict the position of a cochlear electrode during cochlear implantation surgery may serve to improve the surgical technique and postoperative speech outcome. There is evidence that electrically evoked compound action potentials (ECAP) are a suitable approach to provide information about the site of stimulation. This study aims to contribute to the knowledge about the association between the intraoperative intracochlear ECAP characteristics and the site of stimulation. METHODS: In a retrospective cohort study, patients undergoing cochlear implant surgery with flexible lateral wall electrode arrays (12 stimulating channels) between 2020 and 2022 were analyzed. The CDL was measured using a CT-based clinical planning software. ECAP were measured for all electrode contacts and associated to the CDL as well as to the site of stimulation in degree. RESULTS: Significant differences among the amplitudes and slopes for the individual stimulated electrode contacts at the stimulation sites of 90°, 180°, 270°, 360°, 450° and 540° were found. The values showed a trend for linearity among the single electrodes. CONCLUSIONS: ECAP characteristics correlate with the electrode's position inside the cochlea. In the future, ECAP may be applied to assess the intracochlear position inside the cochlea and support anatomy-based fitting.


Asunto(s)
Implantación Coclear , Implantes Cocleares , Humanos , Estudios Retrospectivos , Implantación Coclear/métodos , Masculino , Femenino , Persona de Mediana Edad , Adulto , Niño , Potenciales de Acción/fisiología , Anciano , Adolescente , Cóclea/fisiología , Preescolar , Estimulación Eléctrica/métodos , Adulto Joven , Potenciales Evocados Auditivos/fisiología , Lactante
3.
Eur Arch Otorhinolaryngol ; 281(1): 43-49, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37466660

RESUMEN

PURPOSE: In cochlear implantation with flexible lateral wall electrode arrays, a cochlear coverage (CC) range between 70% and 80% is considered ideal for optimal speech perception. To achieve this CC, the cochlear implant (CI) electrode array has to be chosen according to the individual cochlear duct length (CDL). Here, we mathematically analyzed the suitability of different flexible lateral wall electrode array lengths covering between 70% and 80% of the CDL. METHODS: In a retrospective cross-sectional study preoperative high-resolution computed tomography (HRCT) from patients undergoing cochlear implantation was investigated. The CDL was estimated using an otosurgical planning software and the CI electrode array lengths covering 70-80% of the CDL was calculated using (i) linear and (ii) non-linear models. RESULTS: The analysis of 120 HRCT data sets showed significantly different model-dependent CDL. Significant differences between the CC of 70% assessed from linear and non-linear models (mean difference: 2.5 mm, p < 0.001) and the CC of 80% assessed from linear and non-linear models (mean difference: 1.5 mm, p < 0.001) were found. In up to 25% of the patients none of the existing flexible lateral wall electrode arrays fit into this range. In 59 cases (49,2%) the models did not agree on the suitable electrode arrays. CONCLUSIONS: The CC varies depending on the underlying CDL approximation, which critically influences electrode array choice. Based on the literature, we hypothesize that the non-linear method systematically overestimates the CC and may lead to rather too short electrode array choices. Future studies need to assess the accuracy of the individual mathematical models.


Asunto(s)
Implantación Coclear , Implantes Cocleares , Humanos , Implantación Coclear/métodos , Estudios Retrospectivos , Estudios Transversales , Dinámicas no Lineales , Cóclea/diagnóstico por imagen , Cóclea/cirugía
4.
Laryngorhinootologie ; 103(4): 279-288, 2024 Apr.
Artículo en Alemán | MEDLINE | ID: mdl-37748501

RESUMEN

Many cochlear implant (CI) users have difficulties recognising pitches and melodies because pitch transmission is blurred and shifted. This study investigates whether postlingually deafened adult CI users recognize melodies better when overtones are removed or undertones are added.Fifteen unilaterally postlingually deafened CI users (single sided deafness = SSD) were included aged 22 to 73 years (MW 52, SD 11.6) with CI hearing experience between 3 and 75 months (MW 33, SD 21.0) with varying MED-EL devices. Three short piano melodies were presented to them firstly to the normal-hearing ear and then in modified overtone or undertone variants and the original variant to the CI ear. These variants should be identified as one of the three original melodies. In addition, musical experience and ability were assessed by the Munich Music Questionnaire and the MiniPROMS music tests.The CI users showed the best melody recognition in the fundamental frequency variant. The overtone variant with the third overtone was as good as the original variant with all overtones with regard to melody recognition (p=1). However, the undertone variant with the first undertone was recognised significantly worse than the fundamental version (p=0.032). Furthermore, there was no correlation between musical experience or musical ability and the number of melodies recognised (p>0.1).Since a reduction of overtones did not worsen the melody recognition, overtone reduction should be considered in future music processing programs for the CI. This could reduce the energy consumption of the CI.


Asunto(s)
Implantación Coclear , Implantes Cocleares , Música , Adulto , Humanos , Pruebas Auditivas , Reconocimiento en Psicología , Percepción de la Altura Tonal
5.
J Acoust Soc Am ; 153(2): 1307, 2023 02.
Artículo en Inglés | MEDLINE | ID: mdl-36859137

RESUMEN

Cochlear implants (CIs) can partially restore speech perception to relatively high levels in listeners with moderate to profound hearing loss. However, for most CI listeners, the perception and enjoyment of music remains notably poor. Since a number of technical and physiological restrictions of current implant designs cannot be easily overcome, a number of preprocessing methods for music signals have been proposed recently. They aim to emphasize the leading voice and rhythmic elements and to reduce their spectral complexity. In this study, CI listeners evaluated five remixing approaches in comparison to unprocessed signals. To identify potential explaining factors of CI preference ratings, different signal quality criteria of the processed signals were additionally assessed by normal-hearing listeners. Additional factors were investigated based on instrumental signal-level features. For three preprocessing methods, a significant improvement over the unprocessed reference was found. Especially, two deep neural network-based remix strategies proved to enhance music perception in CI listeners. These strategies provide remixes of the respective harmonic and percussive signal components of the four source stems "vocals," "bass," "drums," and "other accompaniment." Moreover, the results demonstrate that CI listeners prefer an attenuation of sustained components of drum source signals.


Asunto(s)
Lubina , Implantación Coclear , Implantes Cocleares , Música , Animales , Felicidad
6.
Int J Audiol ; 62(11): 1059-1066, 2023 11.
Artículo en Inglés | MEDLINE | ID: mdl-36411948

RESUMEN

OBJECTIVE: To date, auditory rehabilitation mainly focuses on the person with hearing impairment (PHI). This study aimed to analyse the burden of hearing loss on significant others (SOs), and to explore the impact of contextual and mediating psychosocial co-factors and auditory rehabilitation by cochlear implantation (CI). DESIGN AND STUDY SAMPLE: Third-party disability (SOS-HEAR) and quality of life (Nijmegen Cochlear Implant Questionnaire) were evaluated in 41 PHI scheduled for CI surgery and their close partners pre- and 6-month post-implantation. Further, age, hearing status, educational level, depressive symptoms (GDS-15), coping strategies (Brief-COPE), resilience (RS-13), stress (PSQ) of SOs and PHI were studied. RESULTS: Hearing loss imposes a burden on SOs, particularly in relation to changes in communication and socialisation. Third-party disability was higher in SOs of PHI with lower educational background (p = 0.04) and of advanced age (p = 0.008). Hearing status of SOs negatively correlated with SOS-HEAR (p = 0.04). After CI, quality of life of PHI and third-party disability of SOs improved (p < 0.001), except in relationship changes. SOs with higher pre-operative burden also experienced more third-party disability afterwards (p ≤ 0.003). CONCLUSION: Audiological rehabilitation should expand to include SOs in the rehabilitation process, as the burden experienced by SOs might persist even after CI.


Asunto(s)
Implantación Coclear , Implantes Cocleares , Sordera , Pérdida Auditiva , Percepción del Habla , Humanos , Calidad de Vida/psicología , Pérdida Auditiva/psicología , Sordera/psicología
7.
Z Gerontol Geriatr ; 56(4): 261-268, 2023 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-37140632

RESUMEN

Hearing loss has been identified as a potentially modifiable risk for dementia. This discussion paper reviews studies examining the impact of hearing loss interventions on cognitive decline and incident cognitive impairment, identified the challenges for research on the cognitive impacts of hearing interventions, and the likely benefits of hearing interventions for healthy aging and mental well-being.


Asunto(s)
Disfunción Cognitiva , Demencia , Envejecimiento Saludable , Pérdida Auditiva , Humanos , Pérdida Auditiva/prevención & control , Pérdida Auditiva/psicología , Disfunción Cognitiva/prevención & control , Bienestar Psicológico , Demencia/prevención & control
8.
Z Gerontol Geriatr ; 56(4): 276-282, 2023 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-37022489

RESUMEN

BACKGROUND: Age-related hearing loss (ARHL) is one of the most common chronic conditions that impacts on everyday life far beyonds speech understanding. Chronic hearing loss has been associated with social isolation, depression, and cognitive decline. Early diagnosis and appropriate treatment are recommended. OBJECTIVE: To give an overview of surgical and non-surgical treatment options for ARHL and the gap between the high prevalence of ARHL and its inadequate treatment to date. MATERIAL AND METHODS: A selective literature search was carried out in PubMed. RESULTS: In case of mild to moderate hearing loss, provision of air conduction hearing aids is still the method of choice as it leads to a large benefit in speech understanding and hearing-specific quality of life, and to a slight improvement in overall quality of life. Implantable middle ear systems are used for the treatment of special types of hearing impairment. In case of severe to profound hearing loss, cochlear implantation should be considered; however, only a small number of older people with hearing loss are supplied with hearing aids or cochlear implants despite the well-known benefits of both. This also applies to high-income countries where the costs are covered by health insurance funds. CONCLUSION: Considering the low rate of properly treated people with hearing loss, large-scale screening programs, including better counselling of older people, should be developed.


Asunto(s)
Implantación Coclear , Implantes Cocleares , Audífonos , Pérdida Auditiva , Humanos , Anciano , Calidad de Vida , Pérdida Auditiva/diagnóstico , Pérdida Auditiva/epidemiología , Pérdida Auditiva/terapia , Resultado del Tratamiento
9.
Audiol Neurootol ; 27(5): 356-367, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35533653

RESUMEN

INTRODUCTION: Several factors are known to influence speech perception in cochlear implant (CI) users. To date, the underlying mechanisms have not yet been fully clarified. Although many CI users achieve a high level of speech perception, a small percentage of patients does not or only slightly benefit from the CI (poor performer, PP). In a previous study, PP showed significantly poorer results on nonauditory-based cognitive and linguistic tests than CI users with a very high level of speech understanding (star performer, SP). We now investigate if PP also differs from the CI user with an average performance (average performer, AP) in cognitive and linguistic performance. METHODS: Seventeen adult postlingually deafened CI users with speech perception scores in quiet of 55 (9.32) % (AP) on the German Freiburg monosyllabic speech test at 65 dB underwent neurocognitive (attention, working memory, short- and long-term memory, verbal fluency, inhibition) and linguistic testing (word retrieval, lexical decision, phonological input lexicon). The results were compared to the performance of 15 PP (speech perception score of 15 [11.80] %) and 19 SP (speech perception score of 80 [4.85] %). For statistical analysis, U-Test and discrimination analysis have been done. RESULTS: Significant differences between PP and AP were observed on linguistic tests, in Rapid Automatized Naming (RAN: p = 0.0026), lexical decision (LexDec: p = 0.026), phonological input lexicon (LEMO: p = 0.0085), and understanding of incomplete words (TRT: p = 0.0024). AP also had significantly better neurocognitive results than PP in the domains of attention (M3: p = 0.009) and working memory (OSPAN: p = 0.041; RST: p = 0.015) but not in delayed recall (delayed recall: p = 0.22), verbal fluency (verbal fluency: p = 0.084), and inhibition (Flanker: p = 0.35). In contrast, no differences were found hereby between AP and SP. Based on the TRT and the RAN, AP and PP could be separated in 100%. DISCUSSION: The results indicate that PP constitute a distinct entity of CI users that differs even in nonauditory abilities from CI users with an average speech perception, especially with regard to rapid word retrieval either due to reduced phonological abilities or limited storage. Further studies should investigate if improved word retrieval by increased phonological and semantic training results in better speech perception in these CI users.


Asunto(s)
Implantación Coclear , Implantes Cocleares , Percepción del Habla , Adulto , Humanos , Lenguaje , Memoria a Corto Plazo , Percepción del Habla/fisiología
10.
HNO ; 70(3): 214-223, 2022 Mar.
Artículo en Alemán | MEDLINE | ID: mdl-34825919

RESUMEN

BACKGROUND: Due to the COVID-19 pandemic, digitalization in healthcare grew rapidly. Auditory training after cochlear implantation usually takes place face-to-face but social distancing interferes with this therapeutic approach. MATERIALS AND METHODS: In follow-up treatment, 42 adult cochlear implant (CI) users aged 53.8 (±15.6) years received video therapy 1 x/week for 5 weeks on a certified platform. After each therapy session, the technical process and therapeutic content were assessed. At the end of the study, usability and the relationship between therapist and patient were evaluated by patients and therapists using the System Usability Scale (SUS), a final questionnaire and by the Skala Therapeutische Allianz - Revised (STA-R). Furthermore, a cost-benefit analysis was done. RESULTS: Usability for both users was high (87.97 versus 93.0). Despite the lack of personal contact, therapeutic alliance was highly appreciated by patients and therapists (87.8% versus 84.8%). The main advantages for the patients were reductions in time and costs. In contrast, the rehabilitation center faced higher costs initially due to the longer time therapists needed to prepare the lessons. Technical problems had to be solved in > 75% of the first sessions but did not bother training thereafter. In total, 47.6% of the patients believe that teletherapy can completely fulfill their therapeutic needs. CONCLUSION: Video therapy has been judged as a useful tool by all users and the majority wants to continue. However, it remains questionable whether the therapist-patient relationship can be sufficiently maintained over a longer period and whether online therapy is as effective as face-to-face therapy.


Asunto(s)
COVID-19 , Implantación Coclear , Implantes Cocleares , Adulto , Humanos , Persona de Mediana Edad , Pandemias , SARS-CoV-2
11.
Audiol Neurootol ; 26(4): 236-245, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33440376

RESUMEN

INTRODUCTION: Age-related hearing loss affects about one-third of the population worldwide. Studies suggest that hearing loss may be linked to cognitive decline and auditory rehabilitation may improve cognitive functions. So far, the data are limited, and the underlying mechanisms are not fully understood. The study aimed to analyze the impact of cochlear implantation on cognition in a large homogeneous population of hearing-impaired adults using a comprehensive non-auditory cognitive assessment with regard to normal-hearing (NH) subjects. MATERIAL AND METHODS: Seventy-one cochlear implant (CI) candidates with a postlingual, bilateral severe or profound hearing loss aged 66.3 years (standard deviation [SD] 9.2) and 105 NH subjects aged 65.96 years (SD 9.4) were enrolled. The computer-based neurocognitive tool applied included 11 subtests covering attention (M3), short- and long-term memory (recall and delayed recall), working memory (0- and 2-back, Operation Span [OSPAN] task), processing speed (Trail Making Test [TMT] A), mental flexibility (TMT B), inhibition (cFlanker and iFlanker), and verbal fluency. CI patients underwent a neurocognitive testing preoperatively as well as 12 months postoperatively. Impact of hearing status, age, gender, and education on cognitive subdomains was studied. Additionally, after controlling for education and age, cognitive performance of CI subjects (n = 41) was compared to that of NH (n = 34). RESULTS: CI users achieved significantly better neurocognitive scores 12 months after cochlear implantation than before in most subtests (M3, [delayed] recall, 2-back, OSPAN, iFlanker, and verbal fluency; all p < 0.05) except for the TMT A and B. A significant correlation could be found between the postoperative improvement in speech perception and in the attentional task M3 (p = 0.01). Hearing status (p = 0.0006) had the strongest effect on attention, whereas education had a high impact on recall (p = 0.002), OSPAN (p = 0.0004), and TMT A (p = 0.005) and B (p = 0.003). Inhibition was mainly age-dependent with better results in younger subjects (p = 0.016). Verbal fluency was predicted by gender as females outperformed men (p = 0.009). Even after controlling for age and education NH subjects showed a significantly better performance than CI candidates in the recall (p = 0.03) and delayed recall (p = 0.01) tasks. Postoperatively, there was no significant difference between the 2 groups anymore. CONCLUSION: Impact of cochlear implantation on neurocognitive functions differs according to the cognitive subdomains. Postoperatively, CI recipients performed as good as age- and education-matched NH subjects.


Asunto(s)
Implantación Coclear , Implantes Cocleares , Pérdida Auditiva , Percepción del Habla , Adulto , Femenino , Humanos , Masculino , Estudios Prospectivos
12.
Z Gerontol Geriatr ; 54(6): 611-620, 2021 Oct.
Artículo en Alemán | MEDLINE | ID: mdl-34490488

RESUMEN

BACKGROUND: Aging is a multidimensional process that may lead to physical, psychological and social changes. This is predominantly due to a decline of sensory functions and their central processing. MATERIAL AND METHODS: Selective literature search in Medline and the Cochrane Library. RESULTS: In addition to specific disorders of the sensory organs, unspecific age-related degenerative processes are responsible for the high prevalence of sensory limitations in older people. This can lead to a significant reduction in the quality of life. Balance impairment, decreasing function of hearing, vision, smell and the somatosensory system are associated with an increased risk of falling and an increased mortality in older people. Furthermore, there is evidence for a link between hearing loss and cognitive decline. In addition to the functional ability of every sense on its own, the integration of multiple sensory perceptions plays an increasing role in age-related sensory limitations. CONCLUSION: Sensory impairments have to be considered when working with older people. Early detection and an interdisciplinary therapeutic approach can reduce the negative consequences. Multimodal stimulation appears to stimulate brain plasticity which helps to compensate age-related changes.


Asunto(s)
Pérdida Auditiva , Calidad de Vida , Actividades Cotidianas , Anciano , Envejecimiento , Encéfalo , Humanos
13.
Laryngorhinootologie ; 97(4): 246-254, 2018 04.
Artículo en Alemán | MEDLINE | ID: mdl-29359310

RESUMEN

INTRODUCTION: Due to the demographic changes neurocognition has become an important issue also in the field of hearing rehabilitation. BACKGROUND: The present study aimed to evaluate the feasibility of a neurocognitive test using computer based tasks with regard to the elderly with and without hearing loss and its practicability for the daily clinical ENT setting. PATIENTS: 171 patients of both genders with normal hearing or a profound hearing loss were enrolled in the study: 90 middleaged persons were between 50 and 64 years (57.0 ± 4.5 years) and 81 elderly persons 65 years and older (72.5 ± 5.4). METHOD: A set of computer-based neurocognitive tasks with only visual instructions covering attention, processing speed, short- and longterm memory as well as executive functions was applied. A presession under the supervision of a trained assistant was included. RESULTS: All patients were capable to complete the assessment by themselves regardless of age and hearing status, however the hearing impaired required 15 minutes more to finish the pretest and reported about a higher level of effort than normal hearing subjects (71 % versus 63 %). Interestingly 90 % of the older individuals claimed the test to fit with all ages, whereas 30 % of the middleaged participants remained skeptical (p = 0.02). CONCLUSION: The presented neurocognitive assessment might be a useful instrument which can be easily included into the daily clinical ENT. It may give important hints to the otolaryngologist in order to develop the most effective hearing rehabilitation strategy.


Asunto(s)
Diagnóstico por Computador , Pruebas Auditivas , Pruebas de Estado Mental y Demencia , Anciano , Audiología , Femenino , Humanos , Masculino , Persona de Mediana Edad
15.
Hum Mol Genet ; 23(16): 4396-405, 2014 Aug 15.
Artículo en Inglés | MEDLINE | ID: mdl-24705355

RESUMEN

CHARGE syndrome is a complex developmental disorder caused by mutations in the chromodomain helicase DNA-binding gene CHD7. Kabuki syndrome, another developmental disorder, is characterized by typical facial features in combination with developmental delay, short stature, prominent digit pads and visceral abnormalities. Mutations in the KMT2D gene, which encodes a H3K4 histone methyltransferase, are the major cause of Kabuki syndrome. Here, we report a patient, who was initially diagnosed with CHARGE syndrome based on the spectrum of inner organ malformations like choanal hypoplasia, heart defect, anal atresia, vision problems and conductive hearing impairment. While sequencing and MLPA analysis of all coding exons of CHD7 revealed no pathogenic mutation, sequence analysis of the KMT2D gene identified the heterozygous de novo nonsense mutation c.5263C > T (p.Gln1755*). Thus, our patient was diagnosed with Kabuki syndrome. By using co-immunoprecipitation, immunohistochemistry and direct yeast two hybrid assays, we could show that, like KMT2D, CHD7 interacts with members of the WAR complex, namely WDR5, ASH2L and RbBP5. We therefore propose that CHD7 and KMT2D function in the same chromatin modification machinery, thus pointing out a mechanistic connection, and presenting a probable explanation for the phenotypic overlap between Kabuki and CHARGE syndromes.


Asunto(s)
Anomalías Múltiples/metabolismo , Síndrome CHARGE/metabolismo , ADN Helicasas/metabolismo , Proteínas de Unión al ADN/metabolismo , Cara/anomalías , Enfermedades Hematológicas/metabolismo , Proteínas de Neoplasias/metabolismo , Enfermedades Vestibulares/metabolismo , Anomalías Múltiples/genética , Anomalías Múltiples/patología , Síndrome CHARGE/genética , Síndrome CHARGE/patología , Niño , ADN Helicasas/genética , Proteínas de Unión al ADN/genética , Cara/patología , Células HeLa/citología , Enfermedades Hematológicas/genética , Enfermedades Hematológicas/patología , Humanos , Péptidos y Proteínas de Señalización Intracelular , Masculino , Mutación , Proteínas de Neoplasias/genética , Proteínas Nucleares/metabolismo , Fenotipo , Proteínas/metabolismo , Factores de Transcripción/metabolismo , Enfermedades Vestibulares/genética , Enfermedades Vestibulares/patología
16.
Eur J Pediatr ; 173(10): 1373-6, 2014 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-24770546

RESUMEN

UNLABELLED: Aarskog syndrome (AAS) is an X-linked human disease that affects the skeletal formation and embryonic morphogenesis and is caused by mutations in the FGD1 gene. Patients typically show distinctive skeletal and genital developmental abnormalities, but a broad spectrum of clinical phenotypes has been observed. We report here on the clinical and molecular analysis of a family that reveals a novel FGD1 mutation in a 9-year-old boy displaying extreme craniofacial dysplasia associated with attention deficit hyperactivity disorder. Sequencing of FGD1 revealed a novel mutation in exon 7 at position c.1468 C > T in the index patient, leading to a stop codon in the highly conserved RhoGEF gene domain. His mother and maternal grandmother were also found to be heterozygous for this FGD1 mutation. CONCLUSION: Our results identify a novel mutation of FDG1 in a family with Aarskog syndrome and underscore the phenotypical variability of this condition.


Asunto(s)
Enanismo/genética , Cara/anomalías , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Genitales Masculinos/anomalías , Factores de Intercambio de Guanina Nucleótido/genética , Deformidades Congénitas de la Mano/genética , Cardiopatías Congénitas/genética , Mutación Puntual , Trastorno por Déficit de Atención con Hiperactividad/complicaciones , Trastorno por Déficit de Atención con Hiperactividad/genética , Niño , Enanismo/complicaciones , Femenino , Enfermedades Genéticas Ligadas al Cromosoma X/complicaciones , Marcadores Genéticos , Deformidades Congénitas de la Mano/complicaciones , Cardiopatías Congénitas/complicaciones , Humanos , Masculino , Linaje , Fenotipo
17.
J Am Geriatr Soc ; 2024 Jun 07.
Artículo en Inglés | MEDLINE | ID: mdl-38847346

RESUMEN

BACKGROUND: Cognitive screening tools enable the detection of cognitive impairment, facilitate timely intervention, inform clinical care, and allow long-term planning. The Montreal Cognitive Assessment for people with hearing impairment (MoCA-H) was developed as a reliable cognitive screening tool for people with hearing loss. Using the same methodology across four languages, this study examined whether cultural or linguistic factors affect the performance of the MoCA-H. METHODS: The current study investigated the performance of the MoCA-H across English, German, French, and Greek language groups (n = 385) controlling for demographic factors known to affect the performance of the MoCA-H. RESULTS: In a multiple regression model accounting for age, sex, and education, cultural-linguistic group accounted for 6.89% of variance in the total MoCA-H score. Differences between languages in mean score of up to 2.6 points were observed. CONCLUSIONS: Cultural or linguistic factors have a clinically significant impact on the performance of the MoCA-H such that optimal performance cut points for identification of cognitive impairment derived in English-speaking populations are likely inappropriate for use in non-English speaking populations. To ensure reliable identification of cognitive impairment, it is essential that locally appropriate performance cut points are established for each translation of the MoCA-H.

18.
Eur Arch Otorhinolaryngol ; 270(3): 1019-25, 2013 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-23238701

RESUMEN

Swallowing disturbances are common after neurological disease and oropharyngeal tumor resection. In this case the oral stage is often affected. So far the clinical evaluation of the oral phase is limited. Recently the role of pressure changes during oropharyngeal swallowing has been pointed out, but until now there are not enough data. Thereby 52 healthy adults aged between 20 and 45 years were examined using an oral shield (Silencos(®), Bredent, Senden, Germany) connected to a digital manometer (GDUSB 1000(®), Greisinger electronics, Regenstauf, Germany) able to record pressures in a range of 2,000 to -1,000 mbar at a frequency of 1 kHz. Three swallowing conditions were measured: an active bolus intake (ABI) of water, a passive bolus application of a water-bolus (PWA) and a passive application of a gel-bolus (PGA). We found negative pressures with a median value of -278.9 mbar during ABI, of -24.2 mbar during PWA and of -29.4 mbar during PGA. Significant differences in pressure amplitudes and the pressure pattern were observed depending on the kind of bolus application and its consistency. The used test presents a simple and easy to handle method to assess the oral phase of swallowing.


Asunto(s)
Deglución/fisiología , Boca/fisiología , Presión , Adulto , Femenino , Humanos , Masculino , Manometría , Persona de Mediana Edad , Adulto Joven
19.
J Pers Med ; 13(4)2023 Apr 04.
Artículo en Inglés | MEDLINE | ID: mdl-37109019

RESUMEN

BACKGROUND: Radiological high-resolution computed tomography-based evaluation of cochlear implant candidates' cochlear duct length (CDL) has become the method of choice for electrode array selection. The aim of the present study was to evaluate if MRI-based data match CT-based data and if this impacts on electrode array choice. METHODS: Participants were 39 children. CDL, length at two turns, diameters, and height of the cochlea were determined via CT and MRI by three raters using tablet-based otosurgical planning software. Personalized electrode array length, angular insertion depth (AID), intra- and interrater differences, and reliability were calculated. RESULTS: Mean intrarater difference of CT- versus MRI-based CDL was 0.528 ± 0.483 mm without significant differences. Individual length at two turns differed between 28.0 mm and 36.6 mm. Intrarater reliability between CT versus MRI measurements was high (intra-class correlation coefficient (ICC): 0.929-0.938). Selection of the optimal electrode array based on CT and MRI matched in 90.1% of cases. Mean AID was 629.5° based on the CT and 634.6° based on the MRI; this is not a significant difference. ICC of the mean interrater reliability was 0.887 for the CT-based evaluation and 0.82 for the MRI-based evaluation. CONCLUSION: MRI-based CDL measurement shows a low intrarater difference and a high interrater reliability and is therefore suitable for personalized electrode array selection.

20.
Front Aging Neurosci ; 15: 1220184, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37781104

RESUMEN

Introduction: Cochlear implants (CI) are the gold standard intervention for severe to profound hearing loss, a known modifiable risk factor for dementia. However, it remains unknown whether CI use might prevent the age-related cognitive decline. Recent studies are encouraging but are limited, mainly by short follow-up periods and, for ethical reasons, lack of appropriate control groups. Further, as age-related cognitive decline is multifaceted and not linear, other statistical approaches have to be evaluated. Materials and methods: Immediate and delayed recall as measures of cognitive function were assessed in 75 newly implanted CI users (mean age 65.41 years ± 9.19) for up to 5 years (mean 4.5 ± 0.5) of CI use and compared to 8,077 subjects of the same age range from two longitudinal cohort studies, the Health and Retirement Study (HRS) and the English Longitudinal Study of Aging (ELSA). Linear and quadratic changes in cognitive trajectories were analyzed in detail using mixed growth models, considering possible confounders. Results: For CI users, the linear time slope showed a significant improvement in the specific domains (recall and delayed recall) over time. The quadratic time slope clearly indicated that the predicted change after CI provision followed an inverted U-shape with a predicted decline 2 years after CI provision. In the hearing-impaired group, a significant decline over time was found, with steeper declines early on and the tendency to flatten out in the follow-up. Conclusion: Cochlear implant use seems to boost cognitive trajectories in the first years after implantation. However, long-term prevention of dementia seems to need far more than restoration of hearing loss.

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