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Background: Caring for a child with intellectual disability (ID) has been associated with increased social and psychological burdens. Diagnostic and prognostic uncertainty may enhance emotional stress in families. Method: The present authors assessed the motivations, expectations, mental health, physical health and the quality of life of 194 parents whose children with intellectual disability were undergoing a genetic diagnostic workup. Results: Most parents considered a diagnosis highly relevant for their own emotional relief, their child's therapies and education, or family planning. Parental mental health was significantly lower compared with the normative sample, but physical health was not different. The severity of the child's intellectual disability correlated negatively with their parents' mental and physical health, quality of life, and positively with parental anxiety. Conclusion: Healthcare providers should be aware of the disadvantages facing families with intellectually disabled children. Receiving practical, social and psychological support as well as genetic testing might be particularly relevant for families with severely disabled children.

Hearing protection device (HPD) fit-testing is a recommended best practice for hearing conservation programs as it yields a metric of the amount of attenuation an individual achieves with an HPD. This metric, the personal attenuation rating (PAR), provides hearing health care, safety, and occupational health personnel the data needed to select the optimal hearing protection for the occupational environment in which the HPD will be worn. Although commercial-off-the-shelf equipment allows the professional to complete HPD fit tests in the field, a standard test methodology does not exist across HPD fit-test systems. The purpose of this study was to compare the amount of attenuation obtained using the "gold standard" laboratory test (i.e., real-ear attenuation at threshold [REAT]) and three commercially available HPD fit-test systems (i.e., Benson Computer Controlled Fit Test System [CCF-200] with narrowband noise stimuli, Benson CCF-200 with pure tone stimuli, and Michael and Associates FitCheck Solo). A total of 57 adults, aged 18 to 63, were enrolled in the study and tested up to seven earplugs each across all fit-test systems. Once fitted by a trained member of the research team, earplugs remained in the ear throughout testing across test systems. Results revealed a statistically significant difference in measured group noise attenuation between the laboratory and field HPD fit-test systems (p <.0001). The mean attenuation was statistically significantly different (Benson CCF-200 narrowband noise was +3.1 dB, Benson CCF-200 pure tone was +2.1 dB, and Michael and Associates FitCheck Solo was +2.5 dB) from the control laboratory method. However, the mean attenuation values across the three experimental HPD fit-test systems did not reach statistical significance and were within 1.0 dB of one another. These findings imply consistency across the evaluated HPD fit-test systems and agree with the control REAT test method. Therefore, the use of each is acceptable for obtaining individual PARs outside of a laboratory environment. [ABSTRACT FROM AUTHOR]

National and international regulatory and consensus standards setting bodies have previously proposed derating hearing protector ratings to provide a better match between ratings determined in a laboratory and the real-world measurements of attenuation for workers. The National Institute for Occupational Safety and Health has proposed a derating scheme that depends upon the type of protector. This paper examines four real-world studies where personal attenuation ratings (PARs) were measured at least twice, before and after an intervention in earplug fitting techniques. Results from these studies indicate that individualized earplug fitting training dramatically improves a worker's achieved PAR value. Additionally, derating schemes fail to accurately predict the majority of achieved PARs. Because hearing protector fit testing systems are now readily available for use in the workplace, personal attenuation ratings provide a better estimate of worker noise exposures and are able to identify those persons who need additional instruction in fitting hearing protection devices. [ABSTRACT FROM AUTHOR]

Objectives To investigate the change in hearing and perceived comfort over 1 year related to using an active hearing protection device (HPD) among United States Marine Corps (USMC) personnel routinely exposed to hazardous noise. Methods USMC Weapons Instructors (n = 127) were issued an active earmuff that met military standards and was compatible with other protective equipment. These participants completed pre- and post-hearing tests and comfort surveys. A control cohort (n = 94) was also included to compare individual changes in high-frequency pure tone average (HF-PTA) over 1 year. Results The control group's HF-PTA was 3 dB worse than the intervention group after only 1 year. Survey responses revealed perceived improvements in the ability to hear and understand, situational awareness, and safety. Conclusions Active HPDs can reduce hearing loss and improve hearing-related occupational tasks. [ABSTRACT FROM AUTHOR]

The purpose of this fit-testing study in the field was to systematically compare three Hearing Protection Device (HPD) fit-training methods and determine whether they differ in the acquisition of HPD fitting skill and resulting amount of earplug attenuation. Subjects were randomly assigned to receive HPD fit-training using one of three training methods: current, experiential HPD (eHPD), and integrated. Personal Attenuation Ratings (PARs) were acquired via HPD fit-testing and used to verify attenuations pre- and post-training. US Marine training recruits (n = 341) identified via HPD fit-testing for remedial HPD fit-training and assigned to three cohorts. The post-training HPD fit-test passing rate differed by training method, with pass rates ranging from 50% (current) to nearly 92% (eHPD). The difference between group delta PAR values were significantly higher (>9 dB) in both the eHPD and integrated methods compared to the current method. The HPD fit-training methods that teach "what right feels like" (eHPD and integrated) provided a greater number of trainees with the skill to achieve noise attenuation values required for impulse noise exposures encountered during basic training. The attenuation achieved by those methods was significantly greater than the current training method. [ABSTRACT FROM AUTHOR]

Introduction: One challenge clinicians face is determining when a military Service Member (SM) can return to duty after an injury that affects the postural control. The gold standard to measure postural control is the Sensory Organization Test (SOT). This test measures the amount of sway present in an individual's static stance that may be used to examine range of function and monitor recovery from injury. Normative values currently available were developed using a sample of clinically normal adults from the general population (i.e., civilian non-aviator). Previous research suggests that these values should not be used as a comparative cohort for high-performing populations in the military. However, normative values, specific to military SMs, do not exist. The aim of this study was to develop a normative clinical database for functional balance (i.e., the SOT) for military-trained aviators, an occupational specialty that may consist of high performers.Materials and Methods: Forty-three U.S. Army trained aviators, between 23 and 40 years old with medical clearance for flight operations from the Fort Rucker, Alabama area community consented and participated in this study. The SOT was delivered using the NeuroCom SMART EquiTest Clinical Research System with the Data Acquisition Toolkit (version 9.3).Results: A statistically significant (p < 0.01) difference between the study cohort of Army-trained aviators and the publically available general civilian normative values was found for the more challenging conditions, in which the force plate was not fixed (i.e., conditions four through six). The study cohort of Army-trained aviators were found to have a higher equilibrium score in each of these three conditions. Similarly, a significant difference (p < 0.01) between the two cohorts was found on the visual and vestibular sensory analysis ratios, and the visual preference scores (i.e., greater reliance upon visual information in the maintenance of balance). The study cohort were found to have a higher ratios (i.e., greater dependence upon these sensory cues) in each of these conditions.Conclusion: Army-trained aviators are high-functioning performers whose SOT scores differ from that of the general civilian population, particularly for the more challenging test conditions. New normative values were developed from this study population. Use of the developed normative values could be used as a comparative cohort in screening aviators who are recovering from injuries that affect postural stability. [ABSTRACT FROM AUTHOR]

Brazil uses NRRSF.Naive subject fitChina before January 2021(SNRd × 0.6)SNRChina after January 2021No derating appliedLAeq 95 dBA, SNR 17-34 LAeq >= 95 dBA, SNR 34ItalySNR × 0.75SNR × 0.5SNR × 0.3SNRGermanySNR - 5 dBSNR - 9 dBSNR - 5 dBSNR - 3 dB for customFrance (proposed)SNR - 5 dBSNR - 10 dBSNR - 10 dBSNR - 5 dB for custom earplugsUnited KingdomSNR - 4 dBSNR ht 1 aNoise reduction rating (NRR). [Extracted from the article]

Neurodegeneration with brain iron accumulation (NBIA) is a group of neurodegenerative disorders characterized by iron accumulation in the basal ganglia. Recently, mutations in CoA synthase ( COASY) have been identified as a cause of a novel NBIA subtype (COASY Protein-Associated Neurodegeneration, CoPAN) in two patients with dystonic paraparesis, parkinsonian features, cognitive impairment, behavior abnormalities, and axonal neuropathy. COASY encodes an enzyme required for Coenzyme A (CoA) biosynthesis. Using whole exome sequencing (WES) we identified compound heterozygous COASY mutations in two siblings with intellectual disability, ataxic gait, progressive spasticity, and obsessive-compulsive behavior. The 'eye-of-the tiger-sign,' a characteristic hypointense spot within the hyperintense globi pallidi on MRI found in the most common subtype of NBIA (Pantothenate Kinase-Associated Neurodegeneration, PKAN), was not present. Instead, bilateral hyperintensity and swelling of caudate nucleus, putamen, and thalamus were found. In addition, our patients showed a small corpus callosum and frontotemporal and parietal white matter changes, expanding the brain phenotype of patients with CoPAN. Metabolic investigations showed increased free carnitine and decreased acylcarnitines in the patientś dried blood samples. Carnitine palmitoyl transferase 1 (CPT1) deficiency was excluded by further enzymatic and metabolic investigations. As CoA and its derivate Acetyl-CoA play an essential role in fatty acid metabolism, we assume that abnormal acylcarnitine profiles are a result of the COASY mutations. This report not only illustrates that WES is a powerful tool to elucidate the etiology of rare genetic diseases, but also identifies unique neuroimaging and metabolic findings that may be key features for an early diagnosis of CoPAN. [ABSTRACT FROM AUTHOR]

Recently, de novo heterozygous variants in DDX3X have been reported in about 1.5% of 2659 females with previously unexplained intellectual disability (ID). We report on the identification of DDX3X variants in two unrelated girls with clinical features of Toriello-Carey Syndrome (T-CS). In patient 1, the recurrent variant c.1703C>T; p.(P568L) was identified when reconsidering X-linked de novo heterozygous variants in exome sequencing data. In patient 2, the DDX3X variant c.1600C>G; p.(R534G) was also detected by exome sequencing. Based on these data, de novo heterozygous DDX3X variants should be considered not only in females with unexplained ID, but also in individuals with a clinical diagnosis of T-CS. [ABSTRACT FROM AUTHOR]