Auditory Brainstem Responses in Young Males With Fragile X Syndrome

Roberts, Joanne; Hennon, Elizabeth A.; Anderson, Kathleen; Roush, Jackson; Gravel, Judith; Skinner, Martie; Misenheimer, Jan; Reitz, Patricia
April 2005
Journal of Speech, Language & Hearing Research;Apr2005, Vol. 48 Issue 2, p494
Academic Journal
Fragile X syndrome (FXS) is the most common inherited cause of mental retardation resulting in developmental delays in males. Atypical outer ear morphology is characteristic of FXS and may serve as a marker for abnormal auditory function. Despite this abnormality, studies of the hearing of young males with FXS are generally lacking. A few studies have suggested that a significant proportion of individuals with FXS demonstrate prolonged auditory brainstem response (ABR) latencies. The purpose of this study was to determine whether young males with FXS display atypical auditory brainstem function compared to typically developing males when conductive and sensorineural hearing loss are ruled out as possible contributors to atypical findings. Participants were 23 males with FXS, 21 typically developing males who were matched for developmental age, and 17 typically developing males who were matched for chronological age. A battery of tests to assess peripheral hearing, cochlear function, and auditory pathway integrity through the level of the brainstem was completed. Males with FXS were similar to typically developing males who were matched for developmental age level or chronological age level on all measures. They had normal hearing sensitivity and middle ear function and scored similar to the typically developing children on the measures of auditory brainstem pathway integrity. In summary, ABRs in young males with FXS were within normal limits.


Related Articles

  • Fragile X Premutation Significance Uncertain. Breindl, Anette // BioWorld Today;12/26/2012, Vol. 23 Issue 248, Special section p2 

    The article reports that alterations in the Fragile X syndrome are more common than expected, according to a pilot study screening for the mutation that causes Fragile X syndrome, the most common genetic cause of mental retardation.

  • More Than "A Case of Fragile X". McGavin, Colleen L. // JAMA: Journal of the American Medical Association;4/30/2014, Vol. 311 Issue 17, p1735 

    In this article, the author talks about having a brother with fragile X syndrome. Topics discussed include the author's experience of reviewing a case of a woman with fragile X, how the author's brother was diagnosed of fragile X, and the moodiness of a person with such syndrome. Also mentioned...

  • Alteration of expression of muscle specific isoforms of the fragile X related protein 1 (FXR1P) in facioscapulohumeral muscular dystrophy patients. Davidovic, L.; Sacconi, S.; Bechara, E. G.; Delplace, S.; Allegra, M.; Desnuelle, C.; Bardoni, B. // Journal of Medical Genetics;Oct2008, Vol. 45 Issue 10, p679 

    Background: The Fragile X Mental retardation-Related 1 (FXR1) gene belongs to the fragile X related family, that also includes the Fragile X Mental Retardation (FMRI) gene involved in fragile X syndrome, the most common form of inherited mental retardation. While the absence of FMRP impairs...

  • Fragile X Mental Retardation Protein: Many Partners and Multiple Targets for a Promiscuous Function. Khandjian, E. W.; Bechara, E.; Davidovic, L.; Bardoni, B. // Current Genomics;Nov2005, Vol. 6 Issue 7, p515 

    Fragile X syndrome is the most common inherited form of mental retardation and is due to the silencing of FMR1 gene coding for the FMRP protein. FMRP is an RNA binding protein endowed with Nuclear Localization and Nuclear Export Signals and is associated with actively translating polysomes as...

  • Fragile X Syndrome: An Update and Review for the Primary Pediatrician. Visootsak, Jeannie; Warren, Stephen T.; Anido, Aimee; Graham, Jr., John M. // Clinical Pediatrics;Jun2005, Vol. 44 Issue 5, p371 

    Fragile X syndrome (FXS) is the most common inherited cause of mental retardation. Since the initial identification of the responsible gene more than a decade ago, substantial progress has been made in both the clinical aspects of the disorder and its mechanistic basis; hence, it is important...

  • Examination of FMR1 transcript and protein levels among 74 premutation carriers. Peprah, Emmanuel; Weiya He; Allen, Emily; Oliver, Tiffany; Boyne, Alex; Sherman, Stephanie L. // Journal of Human Genetics;Jan2010, Vol. 55 Issue 1, p66 

    Fragile X-associated disorders are caused by a CGG trinucleotide repeat expansion in the 5′-untranslated region of the FMR1 gene. Expansion of the CGG trinucleotide repeats to >200 copies (that is, a full mutation) induces methylation of the FMR1 gene, with transcriptional silencing being...

  • Different Stem Cell Types Have Critical Difference in Fragile X. Breindl, Anette // BioWorld Today;5/12/2010, Vol. 21 Issue 91, p1 

    The article discusses a research study on induced pluripotent stem cells (iPSCs) which revealed that iPSCs and embryonic stem cells (ESCs) differed in their expression of the fragile X syndrome. It references a study by George Daley and colleagues which appeared in the May 7, 2010 edition of...

  • Signaling Through Actin to Regulate Spine Formation and Function. Okada, Hirokazu; Soderling, Scott H. // Open Neuroscience Journal;2009, Vol. 3, p97 

    Recent progress has greatly expanded our view of how signaling pathways regulate the actin cytoskeleton in post-synaptic spines. These studies reveal a complex interplay between pathways that highlight the role of the actin cytoskeleton during the development of spines as well as in response to...

  • Altered cerebral protein synthesis in fragile X syndrome: studies in human subjects and knockout mice. Qin, Mei; Schmidt, Kathleen C; Zametkin, Alan J; Bishu, Shrinivas; Horowitz, Lisa M; Burlin, Thomas V; Xia, Zengyan; Huang, Tianjiang; Quezado, Zenaide M; Smith, Carolyn Beebe // Journal of Cerebral Blood Flow & Metabolism;Apr2013, Vol. 33 Issue 4, p499 

    Dysregulated protein synthesis is thought to be a core phenotype of fragile X syndrome (FXS). In a mouse model (Fmr1 knockout (KO)) of FXS, rates of cerebral protein synthesis (rCPS) are increased in selective brain regions. We hypothesized that rCPS are also increased in FXS subjects. We...


Read the Article


Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics