A regional-based newborn hearing screening program: the Emilia-Romagna model after ten years of legislation.

Background: Hearing loss, occurring in 1-3/1,000 newborns in the well-babies population, is one of the most common congenital diseases, and hearing screening at birth still represents the only means for its early detection. Since 2011 the Emilia Romagna Regional Health Agency has recommended Newborn Hearing Screening for all babies at its birth points and for newborns moving to the region. The aims of this study are to analyze the results of this regional-based Newborn Hearing Screening program and to discuss the impact of the legislative endorsement on the organization.

Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants.

Background: Bardet-Biedl syndrome (BBS) is a rare genetic disorder that features retinal degeneration, obesity, polydactyly, learning disabilities and renal abnormalities. The diagnosis is often missed at birth, the median age at diagnosis being 9 years. In the attempt to shed light on BBS and improve its diagnosis and treatment, we evaluated the genotype-phenotype relationship in patients with a molecular diagnosis of BBS.

Newborn hearing screening in the Campania region (Italy): early language and perceptual outcomes of infants with permanent hearing loss.

Hearing loss in children causes a deficit in early perceptive and language skills. The objective of this study was to evaluate early receptive and expressive language outcomes in children with hearing loss, identified by hearing screening, compared to the time of diagnosis. We studied 18 severely hearing impaired children who were divided into two groups according to the time of diagnosis.