Hyperacusis in Williams syndrome

@article{Gothelf2006HyperacusisIW,
  title={Hyperacusis in Williams syndrome},
  author={D. Gothelf and N. Farber and E. Raveh and A. Apter and J. Attias},
  journal={Neurology},
  year={2006},
  volume={66},
  pages={390 - 395}
}
Background: Hyperacusis and phonophobia are common, debilitating symptoms in Williams syndrome (WS), yet little is known about their underlying audiologic and neurologic processes. Methods: The mothers of 49 subjects with WS were asked to complete the Hyperacusis Screening Questionnaire. Subjects with reported hyperacusis and sufficient developmental capacity underwent comprehensive audiological and brain auditory evoked response (BAER) testing. Findings were compared with those from pair… Expand
Audiological findings in Williams syndrome: A study of 69 patients
TLDR
Monitor patients affected by Williams syndrome using annual audiometric tests and performing otoacoustic emissions in order to identify a subclinical cochlear dysfunction which might benefit from an audiological follow up before the possible onset of hearing loss. Expand
Abnormal auditory event-related potentials in Williams syndrome.
TLDR
Results of the present study suggest 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. Expand
Sensorineural hearing loss in children and adults with Williams syndrome
TLDR
This study highlights the importance of early and regular hearing testing for WS patients and suggests that elastin may have a previously unappreciated function in maintaining hearing sensitivity. Expand
Audiological follow-up of 24 patients affected by Williams syndrome.
TLDR
It is verified that most of the young Williams syndrome patients had normal hearing sensitivity within the low-middle frequency range, but showed a weakness regarding the high frequencies, the threshold of which worsened significantly over time in most patients. Expand
Hyperactive Auditory Efferent System and Lack of Acoustic Reflexes in Williams Syndrome
TLDR
Hyperexcitability of the MOC efferent system coupled with absence of acoustic reflexes may contribute to the hyperacusis in WS and the consequent high-tone hearing loss induced by environmental noise. Expand
Peripheral and Central Auditory Findings in Individuals with Williams Syndrome
TLDR
The results obtained by peripheral and central auditory evaluation on individuals with Williams syndrome are analyzed to verify if there is a relationship between audiological findings and gender, age and ear side, and to contribute to the extension of the knowledge about the central involvement of the auditory phenotype in the syndrome. Expand
Hyperacusis in children: The Edinburgh experience.
TLDR
In this paediatric cohort, hyperacusis is more common in boys and in those children with ASD, and a combined treatment approach with behavioural therapy and the provision of a sound-ball has a very high success rate in the authors' experience. Expand
Complaints of People with Hyperacusis.
TLDR
Across patients, it was observed that there were different complaints about the sounds and situations that produced difficulty due to hyperacusis, suggesting thathyperacusis is a complex disorder and requires intervention that often involves multiple members of the medical team. Expand
Hyperactive auditory processing in Williams syndrome: Evidence from auditory evoked potentials.
TLDR
It is demonstrated that central auditory processing is hyperactive in Williams syndrome, and the increase in auditory brain responses of both the obligatory complex and mismatch negativity response suggests aberrant processes of auditory encoding and discrimination in WS. Expand
Hyperacusis in children: A clinical profile.
TLDR
awareness of different clinical presentations, presence of other medical conditions and possible underlying pathomechanisms in children with hyperacusis can be helpful for clinicians in informing prognosis, counselling and in individualising management plan. Expand
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These findings are suggestive of cochlear disease and may, in fact, support the hypothesis of outer hair cell modulation by the ipsilateral medial olivocochlear system. Expand
Hyperacusis in Williams syndrome: a sample survey study.
TLDR
The present study reports the results of an investigation into the occurrence of hyperacusis, otitis media and hyperactivity in a large group of Dutch speaking subjects with Williams syndrome from Belgium and The Netherlands. Expand
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The results confirm anecdotal reports of an unusual auditory phenotype in WS, and provide an important foundation for understanding the nature of auditory experience and pathology in WS. Expand
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TLDR
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TLDR
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TLDR
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Characterizing the Musical Phenotype in Individuals With Williams Syndrome
TLDR
Compared to all other groups including the controls, the WS individuals displayed greater emotional responses to music, manifested interest in music at an earlier age, and spent more hours per week listening to music. Expand
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TLDR
The preliminary findings raise concern about the occurrence of mild accelerated aging, which may additionally complicate the long‐term natural history of older adults with WS. Expand
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