Is the prevalence of Down syndrome births in Hawai'i increasing?

Purpose: In response to a study published by the Centers for Disease Control and Prevention (CDC) in 2009, which indicated that the prevalence of Down syndrome births was increasing in the 10 regions studied, this study examined whether a similar trend was occurring in Hawai'i.

Methods: Data were obtained from the Hawai'i State Department of : Health Birth Defects Program for the years 1997-2005. The information was analyzed by numbers of live births and outcomes of Down syndrome pregnancies, by ratio of terminations to live births, by age of mother (< 35 years or ≥ 35 years), by maternal ethnicity, and by whether the baby was born with a congenital heart defect (a frequent concomitant condition of babies born with Down Syndrome).

A multisite study to examine the efficacy of the otoacoustic emission/automated auditory brainstem response newborn hearing screening protocol: recommendations for policy, practice, and research.

Purpose: This article examines whether changes in hearing screening practices are warranted based on the results of the recent series of studies by J. L. Johnson, K.

A multisite study to examine the efficacy of the otoacoustic emission/automated auditory brainstem response newborn hearing screening protocol: results of visual reinforcement audiometry.

Purpose: This 3rd of 4 articles on a study of the efficacy of the 2-stage otoacoustic emission/automated auditory brainstem response (OAE/A-ABR) newborn hearing screening protocol describes (a) the behavioral audiometric protocol used to validate hearing status at 8-12 months of age, (b) the hearing status of the sample, and (c) the success of the visual reinforcement audiometry (VRA) protocol across 7 sites.

Method: A total of 973 infants who failed OAE but passed A-ABR, in one or both ears, during newborn screening were tested with a VRA protocol, supplemented by tympanometry and OAE screening at age 8-12 months.

Results: VRA audiograms (1.

A multisite study to examine the efficacy of the otoacoustic emission/automated auditory brainstem response newborn hearing screening protocol: research design and results of the study.

Purpose: Most newborns are screened for hearing loss, and many hospitals use a 2-stage protocol in which all infants are screened first with otoacoustic emissions (OAEs). In this protocol, no additional testing is done for those passing the OAE screening, but infants failing the OAE are also screened with automated auditory brainstem response (A-ABR). This study evaluated how many infants who failed the OAE and passed the A-ABR had permanent hearing loss (PHL) at 8-12 months of age.

A multisite study to examine the efficacy of the otoacoustic emission/automated auditory brainstem response newborn hearing screening protocol: introduction and overview of the study.

Purpose: This article is the 1st in a series of 4 articles on a recently completed multistate study of newborn hearing screening.

Method: The study examined the efficacy of the 2-stage otoacoustic emission/automated auditory brainstem response (OAE/A-ABR) protocol for identifying hearing loss in newborns.

Results: The study found that the 2-stage OAE/A-ABR protocol did miss a significant number of babies who exhibited a permanent hearing loss by 1 year of age.

A multicenter evaluation of how many infants with permanent hearing loss pass a two-stage otoacoustic emissions/automated auditory brainstem response newborn hearing screening protocol.

Objective: Ninety percent of all newborns in the United States are now screened for hearing loss before they leave the hospital. Many hospitals use a 2-stage protocol for newborn hearing screening in which all infants are screened first with otoacoustic emissions (OAE). No additional testing is done with infants who pass the OAE, but infants who fail the OAE next are screened with automated auditory brainstem response (A-ABR).

The 1.2 A structure of the human sulfite oxidase cytochrome b(5) domain.

The molybdenum- and iron-containing enzyme sulfite oxidase catalyzes the physiologically vital oxidation of sulfite to sulfate. Sulfite oxidase contains three domains: an N-terminal cytochrome b(5) domain, a central domain harboring the molybdenum cofactor (Moco) and a C-terminal dimerization domain. Oxidation of the substrate sulfite is coupled to the transfer of two electrons to the molybdenum cofactor.

Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.

Molybdenum cofactor deficiency in humans results in the loss of the activity of molybdoenzymes sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase. The resultant severe phenotype, which includes progressive neurological damage leading in most cases to early childhood death, results primarily from the deficiency of sulfite oxidase. All forms of molybdenum cofactor deficiency are inherited as autosomal recessive traits.

Prenatal diagnosis of molybdenum cofactor deficiency and isolated sulfite oxidase deficiency.

Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency are autosomal recessive inborn errors of metabolism with severe neurological symptoms resulting from a lack of sulfite oxidase activity. The deficiencies can be diagnosed prenatally by monitoring sulfite oxidase activity in chorionic villus sampling (CVS) tissue. In those families in which the specific defects have been identified, diagnosis can be achieved by mutation analysis or linkage studies directed at affected genes.

Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients.

We report twelve novel mutations in patients with isolated sulfite oxidase deficiency. The mutations are in SUOX, the gene that encodes the molybdohemoprotein sulfite oxidase. These include two frameshift mutations, a four-basepair deletion (562del4) and a single-basepair insertion (113insC), both resulting in premature termination.

Pulsed EPR studies of nonexchangeable protons near the Mo(V) center of sulfite oxidase: direct detection of the alpha-proton of the coordinated cysteinyl residue and structural implications for the active site.

Pulsed electron nuclear double resonance (ENDOR) spectra of nonexchangeable protons in the vicinity of the Mo(V) center of the high pH (hpH) and low pH (lpH) forms of native chicken liver sulfite oxidase (SO) and recombinant human SO have been obtained and analyzed for the first time. The close similarity of the spectra for the chicken and human enzymes indicates that the structures of their molybdenum centers are essentially identical. For lpH SO, the closest nonexchangeable proton is found to be approximately 2.

Universal newborn hearing screening: a goal being achieved in Hawaii.

This article describes the importance of early identification of hearing loss in newborns, the current status of newborn hearing screening in the United States, and the leadership that Hawaii has contributed to that effort. Described are events that may help the nation reach the Year 2010 Health Goals for newborn hearing screening, identification, and intervention.