Hearing impairment (HI) is the most frequent sensory defect with wide genetic heterogeneity. Approximately 80% of genetic hearing loss is non-syndromic and 15-25% of exhibit autosomal dominant inheritance. We analysed an Italian three generation family in which non-syndromic hearing impairment is transmitted as an autosomal dominant trait. Onset of HI in all affected subjects occurred in the se...

Hereditary deafness has proved to be extremely heterogeneous genetically with more than 40 genes mapped or cloned for non-syndromic dominant deafness and 30 for autosomal recessive non-syndromic deafness. In spite of significant advances in the understanding of the molecular basis of hearing loss, identifying the precise genetic cause in an individual remains difficult. Consequently, it is impo...

one of the complications of end-stage renal disease (esrd) is sensorineural hearing loss (snhl). despite large number of studies on adults esrd patients, there are only a few reported surveys regarding snhl in children. to determine the prevalence of snhl in children with esrd and its relationship with sex of patients, presence of hypertension, history of ototoxic drugs administration and durat...

objectives: language development is often very slower in hearing impaired children compared with their normal peers. hearing impairment during childhood affects all aspects of speech production and language acquisition. it seems that hearing impaired people suffer from language and speech impairments such as production of complex linguistic structures. the purpose of this study is to determine ...

X-linked hypophosphatemia (XLH) is a rare type of hereditary hypophosphatemic rickets. Patients with XLH have various symptoms that lower their QOL as defined by HAQ, RAPID3, SF36-PCS, and SF36-MCS in adult patients SF-10 PDCOI pediatric patients. Early diagnosis treatment are needed to reduce the burden, but condition often diagnosed late childhood. The present review aims summarize symptoms, ...

Mutations in the GJB2 gene, which encodes the gap junction protein connexin 26 (Cx26), are the primary cause of hereditary prelingual hearing impairment. Here, the p.Cys169Tyr missense mutation of Cx26 (Cx26C169Y), previously classified as a polymorphism, has been identified as causative of severe hearing loss in two Qatari families. We have analyzed the effect of this mutation using a combinat...

1. Review the patterns of hearing loss in hereditary hearing impairment. AL First, we must understand that genetic hearing loss seems to breach all categories of hearing loss, including the following: congenital, progressive, and adult onset; conductive, sensory, and neural; syndromic and nonsyndromic; high-frequency, low-frequency, or mixed frequency; and mild or profound. Genetic hearing loss...

OBJECTIVE To compare the health-related quality of life (HRQOL) of primary school-age deaf children with or without motor impairment to that of typically developing peers. METHODS This study was a prospective, cross sectional study. With age-matched controls, 100 children were analyzed in each of the following three categories: normal hearing, hearing impaired without motor impairment, and he...

background and aim: children with special needs such as those with hearing loss, visual impairment, mental retardation, and physical-motor disability have special conditions, which may adversely affect their parents’ mental health. given the importance of this issue, the present study aimed to investigate and compare the components of quality of life and psychological well-being in mothers of c...