کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
6225622 1607497 2011 6 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
A Comparative Study of Hearing Loss in Two Microdeletion Syndromes: Velocardiofacial (22q11.2 Deletion) and Williams (7q11.23 Deletion) Syndromes
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی پریناتولوژی (پزشکی مادر و جنین)، طب اطفال و بهداشت کودک
پیش نمایش صفحه اول مقاله
A Comparative Study of Hearing Loss in Two Microdeletion Syndromes: Velocardiofacial (22q11.2 Deletion) and Williams (7q11.23 Deletion) Syndromes
چکیده انگلیسی

ObjectiveTo comprehensively assess auditory impairments in velocardiofacial syndrome (VCFS) and Williams syndrome (WS).Study designAudiologic measurements were conducted with 62 subjects with VCFS and 44 subjects with WS, as well as two control groups consisting of 22 subjects with idiopathic developmental disability and 23 typically developing controls. An association between severity of hearing loss in VCFS and the 158Val/Met polymorphism of the catechol-O-methyltransferase gene (COMT) was explored.ResultsHearing was significantly more impaired in the VCFS and WS groups compared with the developmental disability and typically developing groups. Audiologic abnormalities identified in both the VCFS and WS groups included high-tone hearing loss (predominantly sensorineural or mixed type), loss of acoustic reflex, and middle ear pathologies. In both the VCFS and WS groups, hearing loss severity was positively correlated with age. In the VCFS group, hearing loss was more severe in the subgroup carrying the COMT Val allele compared with the subgroup carrying the COMT Met allele.ConclusionsHearing impairments, including sensorineural hearing loss and acoustic reflex dysfunction, are very common in both VCFS and WS. Hearing loss is less severe in subjects with the COMT Met allele, possibly due to the protective effect of dopamine on the hearing system.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: The Journal of Pediatrics - Volume 158, Issue 2, February 2011, Pages 301-306
نویسندگان
, , , , , ,