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PubMed2004

Universal neonatal hearing screening moving from evidence to practice.

Recent technological advances have made feasible universal newborn hearing screening and therefore early detection of permanent childhood hearing impairment. Over the past three years, new information has been published on whether early intervention is beneficial, the possibility of harm arising from newborn screening, and its cost. Dramatic progress has been made in the large scale implementation of universal screening in many parts of the western world.

Health Policy↗
PubMed2003

Universal neonatal hearing screening: applications for a developing country in the Asia-Pacific region.

Various centers around the world have implemented and evaluated universal hearing screening programs as a response to the US National Institute of Health policy statement on early identification of hearing loss. Several well conducted clinical trials have been devised to examine and evaluate various factors relevant to establishing a UNHS program. This paper aims to describe some of these factors and analyze their applications and implications for a UNHS program for a developing country in the Asia-Pacific Region. Specifically, three main issues will be discussed: hospital vs community based programs, choice of technology, and choice of screening protocol.

Asia, Southeastern↗
PubMed2006

[Congenital adrenal hyperplasia newborn screening: Rio de Janeiro experience].

OBJECTIVE: To determine the 17OH progesterone (17OHP) levels in the neonatal screening for Congenital Adrenal Hyperplasia due to 21 hydroxylase deficiency (CAH-21OHD). CASUISTIC AND METHOD: The evaluation was performed using 76,360 paper filter samples, obtained from newborn screening in Rio de Janeiro from June 1992 to December 2000. The 17OHP were assayed by fluoroimmunoassay method using the blood collected onto filter paper cards. The cut-off level was 10 ng/mL. The infants with 17OHP levels above this cut-off were recalled to undergo a new dosage. RESULTS: Thirty-eight patients presented 17OHP levels above the cut-off limit. In 11 (4 males, 6 females, 1 undefined gender) the diagnoses of CAH-21OHD were confirmed. Their 17OHP levels ranged from 25 to 254.5 ng/mL (mean: 133.84 ng/mL) on the first analysis and from 46.86 to 360 ng/mL (mean: 218.84 ng/mL) on the second analysis. The patients with the salt-wasting form showed higher 17OHP levels when compared to simple virilizers, both on the first analysis (mean: 169.21 ng/mL vs 27.46 ng/mL) and on the second one (mean: 227.16 ng/mL vs 110.95 ng/mL). Among the 27 infants without confirmed disease (false-positives), 17OHP levels ranged from 10.27 to 27.5 ng/mL (mean: 14.8 ng/mL) on the first sample and from 2.39 to 32.39 ng/mL (mean: 10.07 ng/mL) on the second. In this group, 8 children maintained borderline 17OHP levels during a variable period, but in 7 of them it was normalized before the first year of life. In the remaining case, who was asymptomatic after 8 years of follow-up, a cortrosin stimulation test was compatible with the non-classic form of the disease. CONCLUSION: These data confirm that 17OHP analysis was a reliable test to CAH-21OHD neonatal screening and was able to differentiate between normal infants and those with the classical form of CAH-21OHD.

17-alpha-Hydroxyprogesterone↗
PubMed2004

Clinical evaluation of the vector algorithm for neonatal hearing screening using automated auditory brainstem response.

A novel auditory brainstem response (ABR) detection and scoring algorithm, entitled the Vector algorithm is described. An independent clinical evaluation of the algorithm using 464 tests (120 non-stimulated and 344 stimulated tests) on 60 infants, with a mean age of approximately 6.5 weeks, estimated test sensitivity greater than 0.99 and test specificity at 0.87 for one test. Specificity was estimated to be greater than 0.95 for a two stage screen. Test times were of the order of 1.5 minutes per ear for detection of an ABR and 4.5 minutes per ear in the absence of a clear response. The Vector algorithm is commercially available for both automated screening and threshold estimation in hearing screening devices.

Algorithms↗
PubMed1997

[Delayed diagnosis of phenylketonuria as the cause of mental retardation in an adolescent].

INTRODUCTION: The hyperphenylalaninemias (HFA) form a diverse group of recessive autosomic disorders. They are caused by defects in the hepatic system for hydroxylation of the amino acid phenylalamine to tyrosine. The estimated incidence is approximately 10 cases per 100,000 live births. Children with this metabolic disorder may present with varied neurological symptoms. Control of plasma levels, so that they are more normal as soon as possible after birth, significantly prevents mental retardation and other neuropsychological dysfunction. For this reason HFA has been included in neonatal screening. However, some patients are not detected on screening. When they are adults, these patients pose problems of diagnosis for neurologists who attend adults. CLINICAL CASE: We describe an adolescent with mental and linguistic retardation, in whom neonatal screening to rule out metabolic defects was normal. At the age of 15, the phenylalanine in blood and urine were found to be raised. On cerebral magnetic resonance changes typical of pheynylketonuria (PKU) were seen. CONCLUSIONS: The HFA should be considered as causes of cerebral dysfunction in adults, since in spite of neonatal screening, false negatives may occur. We describe a clinical case and consider different forms of hyperphenylaleninemias. Their diagnosis and treatment.

Adolescent↗
PubMed1976

alpha1-Fetoprotein measurement in blood spotted on paper: discriminating test for hereditary tyrosinemia in neonatal mass screening.

We describe an electroimmunodiffusion technique for measuring alpha1-fetoprotein in blood spotted on chromatography paper. The system is being used as a complementary test in a neonatal mass-screening program for detection of inborn metabolic diseases in the Province of Quebec. In a series of 102 cases of neonatal hypertyrosinemia, the test has proven to be highly discriminative for hereditary tyrosinemia. It has permitted early detection of eight cases of this disease, including two that would have been missed by the previously used screening procedure, tyrosine measurement only. The test not only virtually eliminates the risk of misdiagnosis or missed diagnosis, but also permits earlier diagnosis of hereditary tyrosinemia and considerably reduces the follow-up work required for newborns with transitory tyrosinemia. The AFP test is simple, fast, practical, and inexpensive. Combined with tyrosine determination, it constitutes an optimal device for mass screening of hereditary tyrosinemia.

Amino Acid Metabolism, Inborn Errors↗
PubMed1998

[Evoked otoacoustic emissions in the neonatal hearing screening].

Early identification of hearing impairment in children is a major problem for clinical research and development. Transient click evoked otoacoustic emissions (TEOAE) have been shown to be a useful test of hearing impairment, especially when used for infant screening. The purpose of this study was evaluation of transiently evoked otoacoustic emissions (TEOAE) for the two-stage screening of infant hearing. The first stage was measurement of otoacoustic emissions. TEOAE were performed in 200 infants. 17.5% of the children exhibited risk factors for hearing impairment. Those failing the second stage proceeded to auditory brain-stem response (ABR). The absence of TEOAE in both ears in 2 children was detected by ABR. The data obtained show that two stage newborn hearing screening is practicable, effective, low-cost and safe.

Acoustic Stimulation↗
PubMed2004

Neonatal hearing screening: to do or not to do.

Over the last two decades there has been a great deal of discussion concerning hearing loss in infants and the most appropriate diagnostic strategies to identify these children so that early intervention can be provided. This article reviews the developments that have transpired to allow universal newborn hearing screening programs to become the standard of care throughout most of North America. The article also examines ongoing controversies in universal newborn hearing screening and future needs to enhance universal newborn hearing screening, with the ultimate goal being early intervention for children identified with hearing loss through these programs.

Early Diagnosis↗
PubMedDate not supplied

Ultrasound screening of neonatal adrenal hemorrhage.

Neonatal adrenal hemorrhage (NAH) is frequently overlooked because the majority of cases are asymptomatic. In this study, we investigated the clinical symptoms, echographic characteristics and incidence of NAH from January 1998 to December 1999 at Cathay General Hospital, Taipei, Taiwan. Among 3273 newborns who had ultrasound screening, 18 cases were diagnosed as having NAH. The incidence was 0.55% which was compatible with other reports. But there was a female predominance (10:8) which was different from previous reports. Only one premature baby was diagnosed with NAH. No patients had perinatal asphyxia, and this was different from other reports. The mean birth body weight was 3530 grams which was more than the 75th percentile of normal term baby birth weight. Sixteen cases had right-sided NAH and two cases had left-sided NAH. Eleven cases (61%) within this study were asymptomatic. The incidence of pathologic jaundice was 11%. Four babies (22%) had poor oral feeding combined with vomiting. Only one had severe anemia for which blood transfusion was required. There were no cases of adrenocortical insufficiency in our study. Only one patient received adrenalectomy. In conclusion, NAH can be detected early by sonography and most cases require only supportive treatment. Thus, unnecessary surgery and severe complications due to delayed diagnosis can be avoided.

Adrenal Gland Diseases↗
PubMed2003

A comparison of transient-evoked otoacoustic emissions and automated auditory brainstem responses for pre-discharge neonatal hearing screening.

The aim of this study was to compare two hearing-screening methods in well newborn infants within the postnatal ward environment prior to discharge. Eighty-one newborn infants underwent one-step hearing screening by measurement of automated auditory brainstem responses (aABRs), using the ALGO-3 screener. These were compared with a further cohort of 81 neonates who underwent two-step screening using transient-evoked otoacoustic emissions (TEOAEs) followed by aABR. The pass rate was 78/81 (96.3%) for the one-step screen, 74/81 (91.4%) for the two-step screen, and 54/81 (66.7%) for TEOAE alone. There was no significant difference between cohorts in time required to complete the screening protocol. We conclude that pre-discharge hearing screening of newborn infants on the postnatal ward is feasible and acceptable. Use of TEOAE alone for pre-discharge screening is associated with an excessively high false-positive rate. At our institution, one-step screening resulted in a lower referral rate compared with a two-step approach. The performance of aABR screening may be affected by prior TEOAE screening.

Age Factors↗
PubMed2006

The development of proto-performative utterances in deaf toddlers.

PURPOSE: The purpose of this study was to examine and compare the development of proto-imperative and proto-declarative utterances in normally developing, non-neonatally screened, profoundly deaf toddlers. METHOD: Both types of proto-declarative are considered to be the most basic prelinguistic and early linguistic communicative functions. Eighteen normally developing, non-neonatally screened, profoundly deaf toddlers participated in a longitudinal study. All children were enrolled in the same oral-aural home guidance program. At the time of the study, none of the children had received a cochlear implant. At the ages of 18, 24, and 30 months, proto-imperative utterances were elicited using an adapted version of M. Casby and J. A. Cumpata's (1986) Protocol for the Assessment of Prelinguistic Intentional Communication. For eliciting proto-declarative intentions, a video clip was used. RESULTS: Results revealed a significant increase in both frequency and level of utterances for both types of proto-performatives. Although there was a clear development from nonlinguistic toward linguistic communication, utterances remained predominantly deictic-gestural for the imperative intentions and referential-gestural for declaratives. CONCLUSIONS: The data support the notion from the literature that both types of performatives are susceptible to elicitation. Results also suggest that after neonatal screening, both total communication and oral-aural approaches might accelerate conventionalization of the earliest communicative utterances of profoundly deaf toddlers.

Age Factors↗
PubMed1999

Adequacy and pitfalls of G6PD deficiency counseling in Hong Kong.

Glucose-6-Phosphate-Dehydrogenase (G6PD) deficiency is common in Hong Kong with an incidence of 4.5% in male and 0.36% in female (Lo et al. 1996).The Neonatal Screening Unit of Clinical Genetic Service started its territory-wide neonatal screening program for G6PD deficiency and congenital hypothyroidism in 1984 (Lam et al, 1986). Because of insufficient manpower and resource, we have been giving health counseling on the phone to parents of G6PD deficient babies and then refer them to nearby maternal and child health centres for monitoring of jaundice. The disease, mode of inheritance, recurrence risk and the precaution against certain medicines (Chan 1996) and chemicals are explained. The purpose (Lam, 1994) is to reassure the parents that their G6PD deficient babies can be as normal as everyone and that they can have normal life. Nevertheless, it has not been established whether telephone counseling has any effect on the affected family in the form of psychological trauma (Marteau, 1989; Fyro, 1987; Li et al, 1996) or significant influence on the decision on future reproduction. This study tried to evaluate the service from the parents' point of view by 1) gathering information on parents' awareness and perception of G6PD deficiency, 2) determination of parents' attitude towards the telephone counseling, and 3) finding out the effect of G6PD deficiency on parents' decision on future reproduction. Over 300 parents were contacted by telephone, and were asked to respond to questions on a questionnaire . The telephone interview focused on parents' understanding of G6PD deficiency, their attitude towards this disease and the possible effect on future reproduction decision. Results showed that over 90% of cases that we had counseled attended the maternal and child health centres. Most of them accepted the presence of G6PD deficiency in their family which did not affect their decision on future pregnancy. Telephone counseling failed to establish a helping relationship with the parent as face to face counseling was more personal. The findings revealed that though telephone counseling had its shortcoming it served the target group effectively. Telephone counseling is still the method of choice for the G6PD deficiency counseling in this locality.

Adolescent↗
PubMed2005

Group B streptococcus disease in neonates: to screen or not to screen?

An audit was undertaken of the prevention of early-onset Group B streptococcus (EOGBS) disease in neonates. The prevention strategy in use involved offering Intra-partum Antibiotic Prophylaxis (IAP) to mothers with identified risk factors, which include maternal fever in labour > 38 degrees C, previous baby with GBS disease, prolonged rupture of membranes > 18 h, pre-term labour, GBS urinary tract infection and known GBS carriage. The most common risk factor identified was GBS carriage (41%) which was known ante-partum but logistical problems prevented these mothers from receiving adequate prophylaxis 4 h before delivery and so were classified as at risk of GBS disease. We found an incidence of GBS in our unit of 0.55 per 1,000 births over the study period. One neonate developed EOGBS disease and the mother had no identifiable risk factor ante-partum/intra-partum. Recent recommendations from the Royal College of Obstetricians and Gynaecologists (RCOG) could reduce the number of babies having sepsis screens performed as the time interval from beginning IAP to delivery has been shortened to 2 h and routine surface cultures or blood cultures are not recommended in well newborns. The evidence is lacking at this point to recommend universal screening for GBS in all pregnant women but patients are increasingly aware of this option and may request anogenital swabs to assess GBS carriage.

Adolescent↗