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Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinic
American journal of medical genetics. Part A, 2016-10, Vol.170A (10), p.2523-2530
Mehta, Devanshi
Noon, Sarah E.
Schwartz, Emily
Wilkens, Alisha
Bedoukian, Emma C.
Scarano, Irene
Crenshaw III, E. Bryan
Krantz, Ian D.
2016
Volltextzugriff (PDF)
Details
Autor(en) / Beteiligte
Mehta, Devanshi
Noon, Sarah E.
Schwartz, Emily
Wilkens, Alisha
Bedoukian, Emma C.
Scarano, Irene
Crenshaw III, E. Bryan
Krantz, Ian D.
Titel
Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinic
Ist Teil von
American journal of medical genetics. Part A, 2016-10, Vol.170A (10), p.2523-2530
Ort / Verlag
United States: Blackwell Publishing Ltd
Erscheinungsjahr
2016
Quelle
Wiley-Blackwell Journals
Beschreibungen/Notizen
Hearing loss is a relatively common condition in children, occurring in approximately 2 out of every 1,000 births with approximately 50% of reported diagnoses having a primary genetic etiology. Given the prevalence and genetic component of hearing loss, coupled with a trend toward early diagnosis with the institution of universal newborn hearing screening, The Genetics of Hearing Loss Clinic was established at The Children's Hospital of Philadelphia to manage the diagnosis, testing, and genetic counseling for individuals and families. This paper described a cohort of 660 individuals with a diagnosis of hearing loss evaluated between July 2008 and July 2015 in the Genetics of Hearing Loss Clinic. To elucidate the cause of hearing loss in this cohort for better management and prognostication, testing included single nucleotide polymorphism chromosomal microarray, hearing loss next generation sequencing panel, and additional clinical tests inclusive of thyroid and renal function studies, temporal bone magnetic resonance imaging, and electrocardiogram. Of those evaluated, most had bilateral sensorineural hearing loss, occurring in 489/660 (74%). Additionally, 612/660 (93%) of patients presented with a nonsyndromic form of hearing loss (no other observed clinical findings at the time of exam), of which pathogenic mutations in GJB2 were most prevalent. Of the individuals with syndromic manifestations (48/660), Usher and Waardenburg syndrome were most commonly observed. A family history of hearing loss (first degree relative) was present in 12.6% of families with available information. Through molecular analyses, clinical examination, and laboratory testing, a definitive etiologic diagnosis was established in 157/660 (23.8%) of individuals. © 2016 Wiley Periodicals, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1552-4825
eISSN: 1552-4833
DOI: 10.1002/ajmg.a.37855
Titel-ID: cdi_proquest_miscellaneous_1827908349
Format
–
Schlagworte
Adolescent
,
Child
,
Child, Preschool
,
Connexins - genetics
,
Disease Management
,
Electrocardiography
,
Female
,
gap junction beta-2 (GJB2)
,
Genetic Counseling
,
Genetic Testing
,
Genotype
,
hearing loss
,
Hearing Loss - diagnosis
,
Hearing Loss - epidemiology
,
Hearing Loss - genetics
,
Humans
,
Infant
,
Infant, Newborn
,
isolated
,
Kidney - abnormalities
,
Magnetic Resonance Imaging
,
Male
,
Mutation
,
Outcome Assessment (Health Care)
,
Population Surveillance
,
Prevalence
,
sensorineural
,
Syndrome
,
syndromic
,
Temporal Bone - diagnostic imaging
,
Temporal Bone - pathology
,
Thyroid Gland - abnormalities
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