Prevalence of age-related hearing loss in Europe: a review

Populations are becoming progressively older thus presenting symptoms of diminished organ function due to degenerative processes. These may be physiological or caused by additional factors damaging the organ. Presbyacusis refers to the physiological age-related changes of the peripheral and central auditory system leading to hearing impairment and difficulty understanding spoken language. In contrast to epidemiological data of other continents, the prevalence of age-related hearing loss (ARHL) in Europe is not well defined, due in part to the use of different classification systems. We performed a systematic literature review with the aim of gaining a picture of the prevalence of ARHL in Europe. The review included only population and epidemiological studies in English since 1970 with samples in European countries with subjects aged 60 years and above. Nineteen studies met our selection criteria and additional five studies reported self-reported hearing impairment. When these data were crudely averaged and interpolated, roughly 30% of men and 20% of women in Europe were found to have a hearing loss of 30 dB HL or more by age 70 years, and 55% of men and 45% of women by age 80 years. Apparent problems in comparing the available data were the heterogeneity of measures and cut-offs for grades of hearing impairment. Our systematic review of epidemiological data revealed more information gaps than information that would allow gaining a meaningful picture of prevalence of ARHL. The need for standardized procedures when collecting and reporting epidemiological data on hearing loss has become evident. Development of hearing loss over time in conjunction with the increase in life expectancy is a major factor determining strategies of detection and correction of ARHL. Thus, we recommend using the WHO classification of hearing loss strictly and including standard audiometric measures in population-based health surveys

Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human

Sensorineural hearing loss affects the quality of life and communication of millions of people, but the underlying molecular mechanisms remain elusive. Here, we identify mutations in Gipc3 underlying progressive sensorineural hearing loss (age-related hearing loss 5, ahl5) and audiogenic seizures (juvenile audiogenic monogenic seizure 1, jams1) in mice and autosomal recessive deafness DFNB15 and DFNB95 in humans. Gipc3 localizes to inner ear sensory hair cells and spiral ganglion. A missense mutation in the PDZ domain has an attenuating effect on mechanotransduction and the acquisition of mature inner hair cell potassium currents. Magnitude and temporal progression of wave I amplitude of afferent neurons correlate with susceptibility and resistance to audiogenic seizures. The Gipc3343A allele disrupts the structure of the stereocilia bundle and affects long-term function of auditory hair cells and spiral ganglion neurons. Our study suggests a pivotal role of Gipc3 in acoustic signal acquisition and propagation in cochlear hair cells

Subtle oculomotor difficulties and their relation to motor skill in children with autism spectrum disorder

Objectives Sensorimotor difficulties are often reported in autism spectrum disorders (ASD). Visual and motor skills are linked in that the processing of visual information can help in guiding motor movements. The present study investigated oculomotor skill and its relation to general motor skill in ASD by providing a comprehensive assessment of oculomotor control. Methods Fifty children (25 ASD; 25 typically developing [TD]), aged 7–10 years, completed a motor assessment (comprising fine and gross motor tasks) and oculomotor battery (comprising fixation, smooth pursuit, prosaccade and antisaccade tasks). Results No group differences were found for antisaccade errors, nor saccade latencies in prosaccade and antisaccade tasks, but increased saccade amplitude variability was observed in children with ASD, suggesting a reduced consistency in saccade accuracy. Children with ASD also demonstrated poorer fixation stability than their peers and spent less time in pursuit of a moving target. Motor skill was not correlated with saccade amplitude variability. However, regression analyses revealed that motor skill (and not diagnosis) accounted for variance in fixation performance and fast smooth pursuit. Conclusions The findings highlight the importance of considering oculomotor paradigms to inform the functional impact of neuropathologies in ASD and also assessing the presentation of co-occurring difficulties to further our understanding of ASD. Avenues for future research are suggested

Eyewitness Testimony in Autism Spectrum Disorder: A Review

Autism spectrum disorder (ASD) is estimated to affect around 1% of the population, and is characterised by impairments in social interaction, communication, and behavioural flexibility. A number of risk factors indicate that individuals with ASD may become victims or witnesses of crimes. In addition to their social and communication deficits, people with ASD also have very specific memory problems, which impacts on their abilities to recall eyewitnessed events. We begin this review with an overview of the memory difficulties that are experienced by individuals with ASD, before discussing the studies that have specifically examined eyewitness testimony in this group and the implications for investigative practice. Finally, we outline related areas that would be particularly fruitful for future research to explore

Occupational Noise, Smoking, and a High Body Mass Index are Risk Factors for Age-related Hearing Impairment and Moderate Alcohol Consumption is Protective: A European Population-based Multicenter Study

A multicenter study was set up to elucidate the environmental and medical risk factors contributing to age-related hearing impairment (ARHI). Nine subsamples, collected by nine audiological centers across Europe, added up to a total of 4,083 subjects between 53 and 67 years. Audiometric data (pure-tone average [PTA]) were collected and the participants filled out a questionnaire on environmental risk factors and medical history. People with a history of disease that could affect hearing were excluded. PTAs were adjusted for age and sex and tested for association with exposure to risk factors. Noise exposure was associated with a significant loss of hearing at high sound frequencies (>1 kHz). Smoking significantly increased high-frequency hearing loss, and the effect was dose-dependent. The effect of smoking remained significant when accounting for cardiovascular disease events. Taller people had better hearing on average with a more pronounced effect at low sound frequencies (<2 kHz). A high body mass index (BMI) correlated with hearing loss across the frequency range tested. Moderate alcohol consumption was inversely correlated with hearing loss. Significant associations were found in the high as well as in the low frequencies. The results suggest that a healthy lifestyle can protect against age-related hearing impairment

DIA1R Is an X-Linked Gene Related to Deleted In Autism-1

Background: Autism spectrum disorders (ASDs) are frequently occurring disorders diagnosed by deficits in three core functional areas: social skills, communication, and behaviours and/or interests. Mental retardation frequently accompanies the most severe forms of ASDs, while overall ASDs are more commonly diagnosed in males. Most ASDs have a genetic origin and one gene recently implicated in the etiology of autism is the Deleted-In-Autism-1 (DIA1) gene. Methodology/Principal Findings: Using a bioinformatics-based approach, we have identified a human gene closely related to DIA1, we term DIA1R (DIA1-Related). While DIA1 is autosomal (chromosome 3, position 3q24), DIA1R localizes to the X chromosome at position Xp11.3 and is known to escape X-inactivation. The gene products are of similar size, with DIA1 encoding 430, and DIA1R 433, residues. At the amino acid level, DIA1 and DIA1R are 62 % similar overall (28 % identical), and both encode signal peptides for targeting to the secretory pathway. Both genes are ubiquitously expressed, including in fetal and adult brain tissue. Conclusions/Significance: Examination of published literature revealed point mutations in DIA1R are associated with X-linked mental retardation (XLMR) and DIA1R deletion is associated with syndromes with ASD-like traits and/or XLMR. Together, these results support a model where the DIA1 and DIA1R gene products regulate molecular traffic through the cellular secretory pathway or affect the function of secreted factors, and functional deficits cause disorders with ASD-lik