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• W2028241977 abstract "In this issue of The Journal, Wolf et al1Wolf B Spencer R Gleason T Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency.J Pediatr. 2002; 140: 242-246Abstract Full Text Full Text PDF PubMed Scopus (53) Google Scholar raise several points relevant to hereditary hearing impairment, early identification of hearing impairment in infants, and the (potential) effect that novel molecular biologic and molecular genetic information can have on patient management. See related article, p 242.The convergence of several factors (societal, biomedical, and molecular-genetic) at this particular point has created an environment in which we have a unique opportunity to advance our understanding of hearing impairment, implement societal mechanisms for assisting young children with hearing impairment, and develop new modalities for treating hearing impairment.On a societal level, federal mandates for states to implement universal newborn hearing screening will dramatically reduce the number of children born in the United States with a handicapping hearing loss that goes undetected for prolonged periods of time. This legislation has been driven by societal pressures generated by the growing public awareness of the effect that undiagnosed hearing impairment can have on a child's global development and the costs of supporting hearing-handicapped children to society at large. Currently, the average age at which a child in the United States is diagnosed with a handicapping hearing loss is still approximately 2.5 years of age. (For a review of the relevant issues and further references, the reader is referred to the National Institute on Deafness and other Communication Disorders, National Institutes of Health Consensus Development Conference Statement on Early Identification of Hearing Impairment in Infants and Young Children, 1993. Available at http://text.nlm.nih.gov/nih/cdc/www/92txt.html ). The negative effect of such late diagnosis and management of hearing impairment on a child's development of communication skills is obvious. With regard to the article by Wolf et al1Wolf B Spencer R Gleason T Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency.J Pediatr. 2002; 140: 242-246Abstract Full Text Full Text PDF PubMed Scopus (53) Google Scholar, the authors note that the early diagnosis of profound biotinidase deficiency in children might allow early initiation of treatment and prevent the development of sensorineural hearing loss that occurs in roughly 75% of symptomatic children. As further studies such as these identify other potentially preventable causes of deafness, early identification of congenital hearing loss by universal newborn hearing screening clearly becomes paramount to successful management strategies. It is particularly heartening to see such strategies now being implemented on a national level.Developing in parallel with this call for early identification of hearing impairment are our abilities to molecularly identify a cause for the deafness. Currently, there are at least 33 autosomal individual confined dominant, 29 autosomal recessive, and 8 X-linked genetic loci that have been mapped for nonsyndromic hearing loss. As an illustration of how far research has come with respect to molecular diagnosis of hearing loss, mutations of a gap junction gene (Gap Junction β 2, GJB2, or Connexin 26) have been identified as one of most common causes of nonsyndromic deafness in the United States (for an overview and references on hereditary hearing impairment, the reader is referred to the hereditary hearing loss homepage, available at http://dnalab-www.uia.ac.be/dnalab/hhh/ ). Genetic testing services are now available in many centers where Connexin 26 mutation screening is routinely performed on a standard peripheral blood sample. However, it is relevant to note that our ability to translate such molecular genetic data into tangibly improved patient care is still at an extremely early stage for such genetic disorders. Although our ability to diagnose the etiology of a child's hearing loss has been dramatically improved, it is still unclear if such genetic data can be used for prognostic purposes (eg, predicting whether a child's hearing loss will be stable or progressive) or whether such genetic data will help determine the optimal therapy for that child's hearing loss (eg, cochlear implantation, hearing aid amplification, etc). And although gene transfer to the inner ear (as a treatment for deafness) continues to be an area of intense research, it remains to be seen how much longer it will be before such molecular therapies reach the bedside.In the interim, data such as those reported by Wolf et al1Wolf B Spencer R Gleason T Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency.J Pediatr. 2002; 140: 242-246Abstract Full Text Full Text PDF PubMed Scopus (53) Google Scholar illustrate how other genetic causes of deafness can be addressed by means other than correction of the genetic defect itself. By early identification of a biotinidase deficiency (by clinical and/or molecular genetic testing), infants can receive biotin treatment and potentially prevent hearing loss. This also highlights how our understanding of the metabolic processes governed by relevant genes needs to be improved such that successful (alternative) interventional strategies can be developed.Concomitant with our increased ability to diagnose genetic abnormalities is an increased responsibility to provide patients and families with the appropriate genetic counseling they require in order to assimilate and utilize that genetic information. Physicians drawing upon these new molecular tools in their clinical practices need to provide patients and families with the proper counseling both before and after DNA results are obtained so that individuals can decide whether they wish to know that information and the consequences of both choices.It is interesting to speculate how the newborn hearing screening directives and molecular genetic research activities will intersect in the foreseeable future. Currently, newborn hearing screening is performed in most facilities by means of either Auditory Brainstem evoked Response testing (ABR) or Otoacoustic Emissions Testing (OAE). The ABR is an electrophysiologic technique based on the measurement of electrical potentials generated in response to an acoustic stimulus. The OAE is a physiologic measure based upon detection of sounds generated by functioning cochlear hair cells. Although both techniques have proven useful, ABR and OAE testing present significant problems in terms of cost, technical requirements of the person performing the testing, and test result interpretation requirements, particularly when considered in the context of applying these tests to all babies on a state or national level. Therefore, although newborn hearing screening that uses current state-of-the-art audiometric techniques is clearly indicated and effective, more cost-effective and efficient hearing screenings are clearly needed.Developments in the field of molecular otology have the potential to provide a genetic testing alternative to current newborn hearing screening methods. The advent of microarray technology (so-called “gene chips”) allows investigators to simultaneously assay the expression of hundreds or thousands of genes. Combining this technology with our rapidly expanding repertoire of gene mutations known to cause deafness, it is very apparent that a “deafness gene chip” could be developed for the purposes of screening newborns for gene mutations that cause or predispose that infant to significant hearing impairment. In such a system, a DNA sample could be obtained at the time of birth from either a heel-stick (as in metabolic newborn screening protocols) or potentially even from cord blood. The infant's DNA could then been screened on a microarray spotted with cDNAs or oligonucleotides associated with hearing loss. Obviously, the sensitivity for molecularly identifying a child with hearing loss will depend on how many of the deafness-causing or deafness-predisposing genes can be identified and arrayed on the gene chip. However, with the first publication of the Human Genome Project sequence data and the increasingly rapid rate of identification of human gene loci linked with deafness, it is reasonable to speculate that high-sensitivity “deafness gene chips” will be developed in the future allowing for more cost-effective, efficient newborn hearing screening with the use of molecular techniques. Infants identified as carrying gene mutations placing them at risk for hearing loss would then undergo physiologic audiometric testing.With all the circumstances pushing the biomedical profession to identify and address pediatric hearing loss at earlier times and in more effective methods, it is a particularly exciting time to observe and participate in the evolution of this specific aspect of molecular medicine. In this issue of The Journal, Wolf et al1Wolf B Spencer R Gleason T Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency.J Pediatr. 2002; 140: 242-246Abstract Full Text Full Text PDF PubMed Scopus (53) Google Scholar raise several points relevant to hereditary hearing impairment, early identification of hearing impairment in infants, and the (potential) effect that novel molecular biologic and molecular genetic information can have on patient management. See related article, p 242. The convergence of several factors (societal, biomedical, and molecular-genetic) at this particular point has created an environment in which we have a unique opportunity to advance our understanding of hearing impairment, implement societal mechanisms for assisting young children with hearing impairment, and develop new modalities for treating hearing impairment. On a societal level, federal mandates for states to implement universal newborn hearing screening will dramatically reduce the number of children born in the United States with a handicapping hearing loss that goes undetected for prolonged periods of time. This legislation has been driven by societal pressures generated by the growing public awareness of the effect that undiagnosed hearing impairment can have on a child's global development and the costs of supporting hearing-handicapped children to society at large. Currently, the average age at which a child in the United States is diagnosed with a handicapping hearing loss is still approximately 2.5 years of age. (For a review of the relevant issues and further references, the reader is referred to the National Institute on Deafness and other Communication Disorders, National Institutes of Health Consensus Development Conference Statement on Early Identification of Hearing Impairment in Infants and Young Children, 1993. Available at http://text.nlm.nih.gov/nih/cdc/www/92txt.html ). The negative effect of such late diagnosis and management of hearing impairment on a child's development of communication skills is obvious. With regard to the article by Wolf et al1Wolf B Spencer R Gleason T Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency.J Pediatr. 2002; 140: 242-246Abstract Full Text Full Text PDF PubMed Scopus (53) Google Scholar, the authors note that the early diagnosis of profound biotinidase deficiency in children might allow early initiation of treatment and prevent the development of sensorineural hearing loss that occurs in roughly 75% of symptomatic children. As further studies such as these identify other potentially preventable causes of deafness, early identification of congenital hearing loss by universal newborn hearing screening clearly becomes paramount to successful management strategies. It is particularly heartening to see such strategies now being implemented on a national level. Developing in parallel with this call for early identification of hearing impairment are our abilities to molecularly identify a cause for the deafness. Currently, there are at least 33 autosomal individual confined dominant, 29 autosomal recessive, and 8 X-linked genetic loci that have been mapped for nonsyndromic hearing loss. As an illustration of how far research has come with respect to molecular diagnosis of hearing loss, mutations of a gap junction gene (Gap Junction β 2, GJB2, or Connexin 26) have been identified as one of most common causes of nonsyndromic deafness in the United States (for an overview and references on hereditary hearing impairment, the reader is referred to the hereditary hearing loss homepage, available at http://dnalab-www.uia.ac.be/dnalab/hhh/ ). Genetic testing services are now available in many centers where Connexin 26 mutation screening is routinely performed on a standard peripheral blood sample. However, it is relevant to note that our ability to translate such molecular genetic data into tangibly improved patient care is still at an extremely early stage for such genetic disorders. Although our ability to diagnose the etiology of a child's hearing loss has been dramatically improved, it is still unclear if such genetic data can be used for prognostic purposes (eg, predicting whether a child's hearing loss will be stable or progressive) or whether such genetic data will help determine the optimal therapy for that child's hearing loss (eg, cochlear implantation, hearing aid amplification, etc). And although gene transfer to the inner ear (as a treatment for deafness) continues to be an area of intense research, it remains to be seen how much longer it will be before such molecular therapies reach the bedside. In the interim, data such as those reported by Wolf et al1Wolf B Spencer R Gleason T Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency.J Pediatr. 2002; 140: 242-246Abstract Full Text Full Text PDF PubMed Scopus (53) Google Scholar illustrate how other genetic causes of deafness can be addressed by means other than correction of the genetic defect itself. By early identification of a biotinidase deficiency (by clinical and/or molecular genetic testing), infants can receive biotin treatment and potentially prevent hearing loss. This also highlights how our understanding of the metabolic processes governed by relevant genes needs to be improved such that successful (alternative) interventional strategies can be developed. Concomitant with our increased ability to diagnose genetic abnormalities is an increased responsibility to provide patients and families with the appropriate genetic counseling they require in order to assimilate and utilize that genetic information. Physicians drawing upon these new molecular tools in their clinical practices need to provide patients and families with the proper counseling both before and after DNA results are obtained so that individuals can decide whether they wish to know that information and the consequences of both choices. It is interesting to speculate how the newborn hearing screening directives and molecular genetic research activities will intersect in the foreseeable future. Currently, newborn hearing screening is performed in most facilities by means of either Auditory Brainstem evoked Response testing (ABR) or Otoacoustic Emissions Testing (OAE). The ABR is an electrophysiologic technique based on the measurement of electrical potentials generated in response to an acoustic stimulus. The OAE is a physiologic measure based upon detection of sounds generated by functioning cochlear hair cells. Although both techniques have proven useful, ABR and OAE testing present significant problems in terms of cost, technical requirements of the person performing the testing, and test result interpretation requirements, particularly when considered in the context of applying these tests to all babies on a state or national level. Therefore, although newborn hearing screening that uses current state-of-the-art audiometric techniques is clearly indicated and effective, more cost-effective and efficient hearing screenings are clearly needed. Developments in the field of molecular otology have the potential to provide a genetic testing alternative to current newborn hearing screening methods. The advent of microarray technology (so-called “gene chips”) allows investigators to simultaneously assay the expression of hundreds or thousands of genes. Combining this technology with our rapidly expanding repertoire of gene mutations known to cause deafness, it is very apparent that a “deafness gene chip” could be developed for the purposes of screening newborns for gene mutations that cause or predispose that infant to significant hearing impairment. In such a system, a DNA sample could be obtained at the time of birth from either a heel-stick (as in metabolic newborn screening protocols) or potentially even from cord blood. The infant's DNA could then been screened on a microarray spotted with cDNAs or oligonucleotides associated with hearing loss. Obviously, the sensitivity for molecularly identifying a child with hearing loss will depend on how many of the deafness-causing or deafness-predisposing genes can be identified and arrayed on the gene chip. However, with the first publication of the Human Genome Project sequence data and the increasingly rapid rate of identification of human gene loci linked with deafness, it is reasonable to speculate that high-sensitivity “deafness gene chips” will be developed in the future allowing for more cost-effective, efficient newborn hearing screening with the use of molecular techniques. Infants identified as carrying gene mutations placing them at risk for hearing loss would then undergo physiologic audiometric testing.With all the circumstances pushing the biomedical profession to identify and address pediatric hearing loss at earlier times and in more effective methods, it is a particularly exciting time to observe and participate in the evolution of this specific aspect of molecular medicine. Hearing loss is a common feature of symptomatic children with profound biotinidase deficiencyThe Journal of PediatricsVol. 140Issue 2PreviewSensorineural hearing loss occurs in approximately 75% of symptomatic children with profound biotinidase deficiency, which is more common than originally thought. The hearing loss varies in severity and is usually irreversible. The biochemical, genotype, and clinical variations do not correlate with the development of hearing loss. Thus, it is very important to diagnose the disorder early, especially by newborn screening, to prevent the hearing loss. (J Pediatr 2002;140:242-6) Full-Text PDF" @default.
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• W2028241977 title "The impact of molecular genetics on the clinical management of pediatric sensorineural hearing loss" @default.
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