Familial Peters Plus syndrome with absent anal canal, sacral agenesis and sensorineural hearing loss: Expanding the clinical spectrum

Shawky, Rabah M.; Elsayed, Solaf M.; Abd-Elkhalek, Heba Salah; Gad, Shimaa

doi:10.1016/j.ejmhg.2013.05.005

Cited by 2 publications

(1 citation statement)

References 15 publications

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“…Knowing that hearing loss is genetically caused could change a family’s decision making regarding interventions and further family planning. Especially given that consanguineous parents are at increased risk for congenital health problems in their children, such as hearing loss [ 60 , 61 , 62 , 63 , 64 ], and consanguineous marriages account for approximately 20–50% of marriages in some parts of the world [ 2 ], genetic counselling in a non-directive manner and education can be preventive [ 2 , 51 , 55 , 65 ].…”

Section: Discussionmentioning

confidence: 99%

Newborn Hearing Screening Benefits Children, but Global Disparities Persist

Neumann

Mathmann

Chadha

et al. 2022

JCM

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There is substantial evidence that newborn hearing screening (NHS) reduces the negative sequelae of permanent childhood hearing loss (PCHL) if performed in programs that aim to screen all newborns in a region or nation (often referred to as Universal Newborn Hearing Screening or UNHS). The World Health Organization (WHO) has called in two resolutions for the implementation of such programs and for the collection of large-scale data. To assess the global status of NHS programs we surveyed individuals potentially involved with newborn and infant hearing screening (NIHS) in 196 countries/territories (in the following text referred to as countries). Replies were returned from 158 countries. The results indicated that 38% of the world’s newborns and infants had no or minimal hearing screening and 33% screened at least 85% of the babies (hereafter referred to as UNHS). Hearing screening programs varied considerably in quality, data acquisition, and accessibility of services for children with PCHL. In this article, we summarize the main results of the survey in the context of several recent WHO publications, particularly the World Report on Hearing, which defined advances in the implementation of NHS programs in the Member States as one of three key indicators of worldwide progress in ear and hearing care (EHC).

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