Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Pleiotropy01:33

Pleiotropy

41.9K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
41.9K
Hypersensitivities01:30

Hypersensitivities

3.7K
Hypersensitivity, also known as a hypersensitivity reaction or allergic reaction, is a condition where the body's immune system reacts abnormally to a foreign substance. Such substances, that cause hypersensitivity are referred to as an allergen, could be something typically harmless to most people, like pollen or certain foods.
Types of Hypersensitivities
Hypersensitivity reactions are categorized into four types: Type 1, Type 2, Type 3, and Type 4. Each type has a distinct mechanism...
3.7K
Hearing01:31

Hearing

54.8K
When we hear a sound, our nervous system is detecting sound waves—pressure waves of mechanical energy traveling through a medium. The frequency of the wave is perceived as pitch, while the amplitude is perceived as loudness.
54.8K
Perception of Sound Waves01:01

Perception of Sound Waves

5.0K
The human ear is not equally sensitive to all frequencies in the audible range. It may perceive sound waves with the same pressure but different frequencies as having different loudness. Moreover, the perception of sound waves depends on the health of an individual's ears, which decays with age. The health of one's ears may also be affected by regular exposure to loud noises.
The pitch of a sound depends on the frequency and the pressure amplitude of the source. Two sounds of the same...
5.0K
Unrenewable Cells00:50

Unrenewable Cells

2.6K
In humans, the photoreceptor cells of the eye and sensory hair cells of the ear lack stem cells. These cells are thus unrenewable and cannot be replaced when they are damaged or destroyed.
Photoreceptors
The retina is composed of several layers and contains specialized cells called photoreceptors. The photoreceptors (rods and cones) change their membrane potential when stimulated by light energy. There are two types of photoreceptors—rods and cones—which differ in the shape of...
2.6K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Oncogenetics training in Brazilian medical genetics residency programs: current landscape and challenges.

Journal of community genetics·2026
Same author

Auditory evoked potentials in suspected idiopathic normal pressure hydrocephalus: longitudinal associations with tap test and clinical outcomes.

Neuroscience·2026
Same author

Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery.

NPJ genomic medicine·2026
Same author

Adaptive and Behavioral Phenotype in Pediatric 22q11.2 Deletion Syndrome: Characterizing a High-Risk Neurogenetic Copy Number Variant.

Genes·2026
Same author

Neurophysiological insights into iNPH: ABR and CAEP responses to lumbar puncture and shunt surgery.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia·2026
Same author

Unveiling Mucopolysaccharidosis IIIC in Brazil: Diagnostic Journey and Clinical Features of Brazilian Patients Identified Through the MPS Brazil Network.

Diseases (Basel, Switzerland)·2026

Related Experiment Video

Updated: Nov 6, 2025

Author Spotlight: Development of a Laser-Induced Shock Wave Animal Model Without Tympanic Membrane Perforation
05:44

Author Spotlight: Development of a Laser-Induced Shock Wave Animal Model Without Tympanic Membrane Perforation

Published on: March 1, 2024

726

Auditory hypersensitivity in Williams syndrome.

Liliane Aparecida Fagundes Silva1, Rachel Sayuri Honjo Kawahira2, Chong Ae Kim2

  • 1Department of Audiology and Speech Therapy, Physiotherapy and Occupational Therapy, University of Sao Paulo Medical School, Sao Paulo, SP, Brazil.

International Journal of Pediatric Otorhinolaryngology
|May 9, 2021
PubMed
Summary

Individuals with Williams syndrome (WS) often experience auditory hypersensitivity and phonophobia. Hyperacusis is less common and may be linked to the absence of contralateral acoustic reflexes.

Keywords:
AudiologyCochlearHearing lossHyperacusisWilliams syndrome

More Related Videos

Testing Sensory and Multisensory Function in Children with Autism Spectrum Disorder
09:13

Testing Sensory and Multisensory Function in Children with Autism Spectrum Disorder

Published on: April 22, 2015

16.7K
Behavioral Assessment of Hearing in 2 to 4 Year-old Children: A Two-interval, Observer-based Procedure Using Conditioned Play-based Responses
14:05

Behavioral Assessment of Hearing in 2 to 4 Year-old Children: A Two-interval, Observer-based Procedure Using Conditioned Play-based Responses

Published on: January 23, 2017

29.4K

Related Experiment Videos

Last Updated: Nov 6, 2025

Author Spotlight: Development of a Laser-Induced Shock Wave Animal Model Without Tympanic Membrane Perforation
05:44

Author Spotlight: Development of a Laser-Induced Shock Wave Animal Model Without Tympanic Membrane Perforation

Published on: March 1, 2024

726
Testing Sensory and Multisensory Function in Children with Autism Spectrum Disorder
09:13

Testing Sensory and Multisensory Function in Children with Autism Spectrum Disorder

Published on: April 22, 2015

16.7K
Behavioral Assessment of Hearing in 2 to 4 Year-old Children: A Two-interval, Observer-based Procedure Using Conditioned Play-based Responses
14:05

Behavioral Assessment of Hearing in 2 to 4 Year-old Children: A Two-interval, Observer-based Procedure Using Conditioned Play-based Responses

Published on: January 23, 2017

29.4K

Area of Science:

  • Neuroscience
  • Audiology
  • Genetics

Background:

  • Williams syndrome (WS) is a genetic disorder associated with developmental delays and unique facial features.
  • Individuals with WS frequently exhibit sensory processing differences, including auditory sensitivities.

Purpose of the Study:

  • To investigate auditory hypersensitivity and hyperacusis in children and adolescents with Williams syndrome.
  • To determine if hyperacusis in WS is associated with the absence of acoustic reflexes.

Main Methods:

  • A study involving 17 individuals with WS (ages 7-17) and 17 age/gender-matched controls.
  • Utilized Loudness Discomfort Level (LDL) tests and acoustic reflex measurements (ipsilateral and contralateral).

Main Results:

  • High prevalence of auditory hypersensitivity and phonophobia in individuals with WS.
  • Reduced sound intensity tolerance and discomfort threshold observed in the WS group.
  • Hyperacusis detected in 35.29% of WS individuals, often mild; absence of contralateral acoustic reflex correlated with hyperacusis.

Conclusions:

  • Williams syndrome is characterized by a high incidence of auditory hypersensitivity and phonophobia.
  • Hyperacusis is less prevalent but may be associated with absent contralateral acoustic reflexes in individuals with WS.