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Ear, Nose, & Throat Journal Apr 2022Misophonia is a chronic condition in which patients experience a strong negative, emotional, or psychologic reaction to specific sounds. These sounds cause the...
Misophonia is a chronic condition in which patients experience a strong negative, emotional, or psychologic reaction to specific sounds. These sounds cause the individual to have a sudden, uncontrolled, and disproportionate negative reaction affecting their daily activities. The literature describes several cases of misophonia in the adult population; however, only 2 pediatric case studies are reported. Herein, we present 2 additional cases. An exaggerated response to an auditory stimulus is observed in other disorders such as tinnitus, hyperacusis, migraines, and many psychiatric disorders. Sound aversion has a broad differential diagnosis and may require visits to numerous specialists, placing strain on the patient and the healthcare system. Furthermore, misophonia is underdiagnosed in the pediatric population as it requires self-reporting of symptoms. The pathophysiology, prevalence, and treatment of misophonia continue to be relatively unknown. We attempt to highlight this rarely reported pediatric diagnosis and elaborate on its clinical presentation to increase awareness among otolaryngologists.
PubMed: 35414290
DOI: 10.1177/01455613221095606 -
Pediatric Research Nov 2021Benign paroxysmal torticollis (BPT) is characterized by attacks of head tilt associated with vomiting, irritability, and/or ataxia in early childhood. BPT is associated...
BACKGROUND
Benign paroxysmal torticollis (BPT) is characterized by attacks of head tilt associated with vomiting, irritability, and/or ataxia in early childhood. BPT is associated with migraine but risk factors are unknown. Impact on quality of life is also unknown.
METHODS
Parents/caregivers of children with ongoing or resolved BPT participated in telephone interviews (n = 73). Those with ongoing BPT completed the Infant Toddler Quality of Life questionnaire (ITQoL).
RESULTS
Median age of children at the time of interview was 2.9 years (range 0.25-23). BPT was ongoing in 52% (n = 38). Nineteen percent (n = 14) developed migraine (median age 9.25 years, range 2.5-23) and 63% (n = 46) developed another episodic syndrome associated with migraine. Proportion of patients who developed migraine was higher among those with certain migrainous symptoms during BPT attacks vs. those without: phonophobia (58 vs. 21%, p = 0.02), photophobia and phonophobia (55 vs. 23%, p = 0.05), and photophobia, phonophobia, and motion sensitivity (60 vs. 22%, p = 0.02). ITQoL results showed significant impact of BPT on quality of life.
CONCLUSIONS
Children with BPT may develop migraine or other episodic syndromes associated with migraine. Presence of migrainous features during BPT episodes may increase likelihood of developing migraine. Though characterized as "benign," BPT can significantly impact children and families.
IMPACT
Benign paroxysmal torticollis (BPT) is a rare condition of early childhood characterized by episodes of head tilt associated with vomiting, irritability, ataxia, pallor, and/or malaise. This cohort study describes the phenotypic spectrum of BPT, variable treatment, natural history and association with migraine, and impact on development and quality of life. Children with BPT may go on to develop migraine or episodic syndromes that may be associated with migraine; presence of migrainous features during attacks may increase odds of developing migraine. BPT can have significant impact on quality of life, demonstrated by findings from the Infant Toddler Quality of Life questionnaire.
Topics: Child; Child, Preschool; Cohort Studies; Humans; Migraine Disorders; Phenotype; Quality of Life; Surveys and Questionnaires; Torticollis
PubMed: 33564129
DOI: 10.1038/s41390-020-01309-1 -
European Journal of Medical Genetics Mar 2021Individuals with Williams Syndrome (WS) have specific auditory characteristics, including hypoacusis and hyperacusis, and music appreciation skills. Little is known...
Individuals with Williams Syndrome (WS) have specific auditory characteristics, including hypoacusis and hyperacusis, and music appreciation skills. Little is known about the functionality of the central auditory nervous system (CANS) for sound processing in WS. Thus, the objective of the present study was to evaluate the functionality of the CANS in individuals with WS, based on auditory event-related potentials, as far as cognitive and behavioral aspects are concerned. The study was carried out with 17 individuals, seven females and ten males, between seven and 17 years old, with WS, and 17 individuals with typical development matched by sex and chronological age to individuals with WS. None of these individuals had middle ear impairment or hearing loss. The subjects were evaluated for intelligence quotient, loudness discomfort level, and auditory event-related potentials with Tone Burst stimuli, on the oddball paradigm; the parents also answered the MTA-SNAP-IV questionnaire. Hyperacusis was found in six WS individuals and two individuals with typical development. In the present study, WS individuals present longer latency and reduced amplitude for P1, N1, N2 and P3 components. These results, suggesting a delay and hypoactive responses of the CANS in this syndrome, that cannot be related to the cognitive or behavioral aspects of these individuals, but it indicates a cortical immaturity to process acoustic stimuli.
Topics: Adolescent; Child; Evoked Potentials, Auditory; Female; Hearing; Humans; Male; Reaction Time; Williams Syndrome
PubMed: 33571693
DOI: 10.1016/j.ejmg.2021.104163 -
SAGE Open Medical Case Reports 2023Congenital hypoaldosteronism is a rare autosomal recessive or dominant endocrinopathy with variable penetrance, secondary to primary defects in aldosterone synthesis...
Congenital hypoaldosteronism is a rare autosomal recessive or dominant endocrinopathy with variable penetrance, secondary to primary defects in aldosterone synthesis that could lead to hypovolemia, hyponatremia, hyperkalemia, failure to thrive, microcephaly, seizures, neurodevelopmental delay, or hearing loss. We present the case of a Colombian patient with congenital hypoaldosteronism, who owns two variants in the gene, and a heterozygous pathogenic variant for nonclassical congenital adrenal hyperplasia. However, the patient missed follow-up and treatment for 6 years. At the age of 7 years, he resumed medical follow-up with laboratory findings of hyperreninemia and hypoaldosteronism, as well as clinical findings of strabismus, left mixed hyperacusis, and pathological short stature (-4.3 SD). Therefore, a trial of fludrocortisone therapy was started with subsequent improvement in renin levels, weight gain, and growth velocity. After 10 months of the start of the medication, he presented hypertension. There is no literature about the late treatment of this condition for pathological short stature.
PubMed: 37811351
DOI: 10.1177/2050313X231201724 -
Neuroscience and Biobehavioral Reviews Feb 2021Atypical behavioral responses to environmental sounds are common in autistic children and adults, with 50-70 % of this population exhibiting decreased sound tolerance... (Review)
Review
Atypical behavioral responses to environmental sounds are common in autistic children and adults, with 50-70 % of this population exhibiting decreased sound tolerance (DST) at some point in their lives. This symptom is a source of significant distress and impairment across the lifespan, contributing to anxiety, challenging behaviors, reduced community participation, and school/workplace difficulties. However, relatively little is known about its phenomenology or neurocognitive underpinnings. The present article synthesizes a large body of literature on the phenomenology and pathophysiology of DST-related conditions to generate a comprehensive theoretical account of DST in autism. Notably, we argue against conceptualizing DST as a unified construct, suggesting that it be separated into three phenomenologically distinct conditions: hyperacusis (the perception of everyday sounds as excessively loud or painful), misophonia (an acquired aversive reaction to specific sounds), and phonophobia (a specific phobia of sound), each responsible for a portion of observed DST behaviors. We further elaborate our framework by proposing preliminary neurocognitive models of hyperacusis, misophonia, and phonophobia that incorporate neurophysiologic findings from studies of autism.
Topics: Adult; Anxiety; Anxiety Disorders; Autistic Disorder; Child; Humans; Hyperacusis; Sound
PubMed: 33285160
DOI: 10.1016/j.neubiorev.2020.11.030 -
Scientific Reports Jan 2023To investigate the application of combined audiological examination and a self-reported symptoms survey in the evaluation of hyperacusis. Patients who visited the...
To investigate the application of combined audiological examination and a self-reported symptoms survey in the evaluation of hyperacusis. Patients who visited the outpatient department of Otolaryngology Head and Neck Surgery and Otological medicine, Affiliated Hospital of Southwest Medical University, from January 2019 to March 2021 were divided into a hyperacusis group and a normal control group. We measured the loudness discomfort level (LDL) and hearing threshold (HT) of the subjects and investigated their self-reported symptoms. We compared the demographic characteristics, loudness discomfort level, and hearing threshold of the two groups and analyzed the self-reported symptoms and audiological characteristics of hyperacusis. We considered 87 subjects, comprising 40 patients with hyperacusis and 47 healthy individuals. Among the hyperacusis patients, bilateral disease was predominant. Among them, 33 were females, 23 had hearing loss, and 20 had tinnitus. Patients are mainly in the 21-60 age group. Patients with hyperacusis had low discomfort thresholds at all frequencies except 500 Hz (P ≤ 0.05, mean LDL decreased by 6.14-1.37 dB HL for all frequencies). The incidences of feeling upset, pain, and anxiety or fear were 95%, 65%, and 82.5%, respectively, in patients with hyperacusis. The severity of symptoms varies between patients with hyperacusis and healthy individuals. A combination of LDL measurements and self-reported symptom surveys allows for an accurate and comprehensive assessment of hyperacusis.Trial registration: This study was retrospectively registered (TRN: ChiCTR2100047391) on June 13, 2021.
Topics: Female; Humans; Male; Hyperacusis; Self Report; Audiology; Hearing; Tinnitus; Outpatients
PubMed: 36707533
DOI: 10.1038/s41598-023-28570-8 -
The Primary Care Companion For CNS... Sep 2022
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Scientific Reports Jun 2024This study aims to investigate auditory hypersensitivity and cortical function in migraine patients using the Hyperacusis Questionnaire and the Event-Related Potential...
This study aims to investigate auditory hypersensitivity and cortical function in migraine patients using the Hyperacusis Questionnaire and the Event-Related Potential (ERP) technique. The study analyzes alterations in the latency and amplitude of the event-related potentials MMN and P300 components. The findings contribute to a better understanding of the physiological relationship between migraine and auditory hypersensitivity. Seventeen migraine patients were admitted to the outpatient clinic of the Department of Otorhinolaryngology-Head and Neck Surgery at Peking University People's Hospital from June 2023 to September 2023. Nineteen matched healthy subjects were also selected. All participants underwent the pure tone audiometry and the auditory brainstem response test to determine hearing thresholds, the Hyperacusis Questionnaire, the Tinnitus Handicap Inventory, and an ERP examination. The Oddball classical paradigm was used as the stimulation task, and electroencephalography signals were recorded synchronously. The scores of the Hyperacusis Questionnaire, latency and amplitude of MMN and P300 component were compared between the migraine group and the control group, and their correlation was analyzed. The latency of MMN at the Fz and Cz sites in migraine patients was significantly shorter than that in the control group (P < 0.05), and the amplitudes were significantly higher than those in the control group (P < 0.05). The variances in latency and amplitude of P300 at Cz and Pz sites in migraine patients were not statistically significant when compared with the control group. (P > 0.05). The Hyperacusis Questionnaire was negatively correlated with MMN latency, with a correlation coefficient of - 0.374 (P = 0.025), and positively correlated with MMN amplitude, with a correlation coefficient of 0.378 (P = 0.023). There was no significant similarity between the Hyperacusis Questionnaire and P300 latency and amplitude (P > 0.05). Overall, auditory hypersensitivity was enhanced in individuals with migraines compared to healthy individuals, leading to faster information processing, while there may be less impairment in cognitive function.
Topics: Humans; Female; Migraine Disorders; Male; Hyperacusis; Adult; Surveys and Questionnaires; Middle Aged; Electroencephalography; Event-Related Potentials, P300; Evoked Potentials; Case-Control Studies; Young Adult; Audiometry, Pure-Tone
PubMed: 38898084
DOI: 10.1038/s41598-024-65014-3 -
Molecular and Cellular Neurosciences Jan 2022Afferent innervation of the cochlea by the auditory nerve declines during aging and potentially after sound overexposure, producing the common pathology known as... (Review)
Review
Afferent innervation of the cochlea by the auditory nerve declines during aging and potentially after sound overexposure, producing the common pathology known as cochlear synaptopathy. Auditory-nerve-fiber loss is difficult to detect with the clinical audiogram and has been proposed to cause 'hidden hearing loss' including impaired speech-in-noise perception. While evidence that auditory-nerve-fiber loss causes hidden hearing loss in humans is controversial, behavioral animal models hold promise to rigorously test this hypothesis because neural lesions can be induced and histologically validated. Here, we review recent animal behavioral studies on the impact of auditory-nerve-fiber loss on perception in a range of species. We first consider studies of tinnitus and hyperacusis inferred from acoustic startle reflexes, followed by a review of operant-conditioning studies of the audiogram, temporal integration for tones of varying duration, temporal resolution of gaps in noise, and tone-in-noise detection. Studies quantifying the audiogram show that tone-in-quiet sensitivity is unaffected by auditory-nerve-fiber loss unless neural lesions exceed 80%, at which point large deficits are possible. Changes in other aspects of perception, which were typically investigated for moderate-to-severe auditory-nerve-fiber loss of 50-70%, appear heterogeneous across studies and might be small compared to impairment caused by hair-cell pathologies. Future studies should pursue recent findings that behavioral sensitivity to brief tones and silent gaps in noise may be particularly vulnerable to auditory-nerve-fiber loss. Furthermore, aspects of auditory perception linked to central inhibition and fine neural response timing, such as modulation masking release and spatial hearing, may be productive directions for further animal behavioral research.
Topics: Animals; Auditory Perception; Auditory Threshold; Cochlear Nerve; Evoked Potentials, Auditory, Brain Stem; Hearing Loss; Models, Animal
PubMed: 34883241
DOI: 10.1016/j.mcn.2021.103692 -
Frontiers in Neurology 2024In addition to hearing loss, damage to the cochlea can lead to gain of function pathologies such as hyperacusis. It has been proposed that painful hyperacusis,... (Review)
Review
In addition to hearing loss, damage to the cochlea can lead to gain of function pathologies such as hyperacusis. It has been proposed that painful hyperacusis, noxacusis, may be carried to the central nervous system by type II cochlear afferents, sparse, unmyelinated neurons that share morphological and neurochemical traits with nociceptive C-fibers of the somatic nervous system. Also like in skin, damage elicits spreading calcium waves within cochlear epithelia. These are mediated by extracellular ATP combined with IP3-driven release from intracellular calcium stores. Type II afferents are excited by ATP released from damaged epithelia. Thus, the genesis and propagation of epithelial calcium waves is central to cochlear pathology, and presumably hyperacusis. Damage-evoked signals in type II afferents and epithelial cells have been recorded in cochlear explants or semi-intact otic capsules. These efforts have included intracellular electrical recording, use of fluorescent calcium indicators, and visualization of an activity-dependent, intrinsic fluorescent signal. Of relevance to hyperacusis, prior noise-induced hearing loss leads to the generation of prolonged and repetitive activity in type II neurons and surrounding epithelia.
PubMed: 38419694
DOI: 10.3389/fneur.2024.1361747