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PubMed1998

alpha-thalassemia in the United Arab Emirates.

A neonatal screening survey of alpha-thalassemia (alpha-thal) among the United Arab Emirates (UAE) nationals was conducted on 418 consecutive cord blood samples. Our findings demonstrate that 49% of the cases studied were found with an alpha-globin gene defect. The gene frequency of the -alpha3.7 was 0.2847 and that of the -alpha4.2 was 0.0072. Four nondeletional alpha-thal mutations were found; alphaPA-1, alphaPA-2, Hb CS and alpha-5nt del with gene frequencies of 0.0036, 0.0012, 0.0024, and 0.0072, respectively. We also report here the genotype-phenotype correlation in 22 patients with Hb H disease or Hb H-like syndrome. Of these, 6 were homozygous for the alphaPA-1 mutation, 2 were homozygous for Hb CS, and 14 were compound heterozygous for either alphaPA-1, Hb CS, alpha-5nt del or --MED-I, with the -alpha3.7. The data reported here demonstrate that a considerable heterogeneity of alpha-thal mutations occurs in the UAE and that the incidence of alpha-thal in the indigenous population is one of the highest in the world. Our clinical data suggest that Hb H disease in the UAE has, in general, a mild to moderate phenotypic presentation.

Gene Frequency↗

PubMed2005

Stability of genomic DNA in dried blood spots stored on filter paper.

The stability of DNA in dried blood samples obtained from the neonatal screening program in Thailand was retrospectively studied in order to determine the conditions necessary for the long term storage of samples for DNA banking. Specimens from 1991 to 2001, which had been kept in the ambient conditions at the Department of Medical Science, Ministry of Public Health, Thailand, were randomly sampled and used for the study. Genomic DNA was extracted from the samples and DNA fragments of the PAX8 and beta-globin genes were amplified by PCR to determine DNA stability. The study showed that 255-bp and 674-bp fragments of the PAX8 gene could be amplified from all the samples. The DNA fragment of 1,039 bp of the beta-globin gene could be detected in all of the samples for the years 1993 to 2001, but only in seven and five out of the ten studied samples for each of the years 1991 and 1992, respectively. Our study shows that genomic DNA is stable in dried blood stored on filter paper at ambient tropical conditions for at least 11 years. However, DNA quality for amplification of larger DNA fragments decreased when the specimens were stored for longer than 10 years.

Blood Preservation↗

PubMed1993

[Physical and mental development of children with congenital hypothyroidism].

69 children with congenital hypothyroidism, who were detected by neonatal screening in Lower Saxony, were reevaluated 1-12 years after diagnosis. They had been treated either by regional children's hospitals, local pediatricians or general practitioners. Substitution of thyroid hormone had started for the majority between day 7 and 14, for 17%, however, only later. Symptoms suggestive of hypothyroidism at birth were observed in 35 children, but only 3 cases were correctly diagnosed before the result of the screening was known. Further diagnostic tests to elucidate the cause of congenital hypothyroidism had been performed in 33 children. In 36 cases the etiology remained undiagnosed at the evaluation. Hormone therapy had been administered continuously in all cases. The somatic development of all children was normal. Bone age at the time of diagnosis was retarded in more than 50%, later it became normal in most cases. The psychomotor and intellectual development was satisfactory as assessed by psychometric tests. The mean value of the Intelligence Quotients in the children older than six years was 96.3. 5 children of this age group had an IQ below 85 and only one child had an IQ of more than 115. In the younger group the results were similar, but children younger than 4 years showed deficiencies in speech development. In summary, the somatic development of the re-examined children with congenital hypothyroidism was normal, but the psychomotor and intellectual development was only subnormal in some cases. It is therefore suggested that children with congenital hypothyroidism should be closely followed by experienced pediatricians, especially in the early years of life.

Age Determination by Skeleton↗

PubMed2004

Longitudinal pulmonary status of cystic fibrosis children with meconium ileus.

Although meconium ileus (MI) is the earliest manifestation of cystic fibrosis (CF), and is associated with poorer growth, the longitudinal pulmonary progression of CF children with MI is not clear. To test the hypothesis that MI is associated with worse pulmonary outcomes, we prospectively compared from diagnosis to 12 years of age 32 CF children with MI to 50 CF children without MI who were diagnosed during early infancy through neonatal screening. Pulmonary outcome measures included respiratory symptoms, respiratory infections, pathogens, antibiotic usage, hospitalizations, quantitative chest radiology, spirometry, and lung volume determinations. Obstructive lung disease was defined as percent predicted spirometry values below the lower limits of normal. Longitudinal analyses revealed no significant differences in cough, wheezing, respiratory infections, prevalence of and median times to acquisition of Pseudomonas aeruginosa or Staphylococcus aureus, antibiotic usage, and chest radiograph scores between the two groups. However, MI children showed significantly worse forced expiratory volume in 1 sec (FEV(1)), forced vital capacity (FVC), forced expiratory flow between 25-75% of FVC (FEF(25-75)), % predicted FEV(1), % predicted FEF(25-75), and total lung capacity (TLC). These differences were particularly apparent beginning at age 8-10 years. MI children also had higher rates of and shorter median times to obstructive lung disease. Subgroup analyses showed MI children treated surgically and those treated medically had similar pulmonary outcomes. In conclusion, MI children have worse lung function and more obstructive lung disease than those without MI. Such abnormalities are accompanied by reduced lung volume. MI is a distinct CF phenotype with more severe pulmonary dysfunction.

Airway Obstruction↗

PubMed2006

Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene.

OBJECTIVE: Congenital primary hypothyroidism (CH) occurs in one of 4000 births and in 20% of the cases CH is due to a defect in thyroid hormonogenesis. Candidate genes were examined to determine the precise aetiology of suspected dyshormonogenesis in CH. DESIGN: The genes that code for thyroid peroxidase (TPO), pendrin (PDS), sodium iodide symporter (NIS) and thyroid oxidase 2 (THOX2) were sequenced directly from genomic DNA. PATIENTS: Two girls found to have CH in the neonatal screening programme and suspected of having thyroid dyshormonogenesis were investigated to identify their molecular defect. RESULTS: Patient A had a novel heterozygous 1 bp insertion in the THOX2 gene (ins602g). This insertion results in a frameshift that predicts a premature stop at codon 300. Analysis of cDNA, transcribed from lymphocyte RNA, showed that this mutation causes skipping of exon 5, resulting in a frameshift and a premature stop at codon 254. The euthyroid mother was also a heterozygous carrier of the mutation whereas the father was homozygous for the wild-type THOX2 gene. In patient B, compound heterozygous mutations (ins602g-->fsX300 and D506N) were identified. D506N was present in one allele of the clinically unaffected mother and in a brother, whereas the euthyroid father was heterozygous for ins602g. Sixty normal individuals did not harbour the mutations. Sequencing of the TPO, PDS and NIS genes revealed no mutations. CONCLUSIONS: The identified THOX2 mutations, which have not been described previously, are the probable causes of CH in the patients. Mutations in the THOX2 gene should be considered as the molecular cause of CH in young patients with thyroid dyshormonogenesis.

Base Sequence↗

PubMed2002

Starting dose of levothyroxine for the treatment of congenital hypothyroidism: a systematic review.

OBJECTIVE: To determine the effect of levothyroxine sodium starting dose on cognitive development, growth, or behavior in children with congenital hypothyroidism identified by neonatal screening. DESIGN: Systematic review of cohort studies. Two analyses were performed: a between-study comparison of mean starting dose with mean developmental score and an analysis of the within-study effects of starting dose on cognitive development, growth, or behavior. RESULTS: The between-study comparison (14 cohort studies based on 1321 patients) found that the standardized mean IQ or developmental quotient scores ranged from 90 to 115 but were not associated with the mean starting dose of levothyroxine (P =.48). The within-study comparison of 4 cohort studies (based on 558 patients) that reported the effect of the starting dose of levothyroxine on cognitive development found no consistent effects. There was weak evidence for an effect of starting dose on growth (1 study) and on behavior problems (1 study). CONCLUSIONS: The evidence for an effect of starting dose of levothyroxine on cognitive development, growth, or behavior is too weak to justify recommendations in favor of high- or standard-dose regimens. More reliable information, based on a randomized controlled trial of starting dose or a meta-analysis of the individual patient data currently available, is required to inform treatment policies.

Child↗

PubMed2004

EDTA is essential to recover lead from dried blood spots on filter paper.

BACKGROUND: Residual dried blood spots (DBSs) on filter paper from neonatal screening have been proposed as samples for population survey of lead contamination. We have investigated the EDTA effect on lead release in the eluting solution. METHODS: Furnace atomic absorption spectrophotometry has been used for lead measurements. Standard, blank and sample solutions contained 2% m/v NH(4)H(2)PO(4), 0.5% v/v Triton X-100 and 0.2% v/v HNO(3) as matrix modifier solution (MMS) with or without EDTA. A calibration curve was established from aqueous standard solutions. Paper discs from DBS and blank, punched near the DBS, were eluted in MM solution and, where required, EDTA at different concentrations. Specimens were leftover DBSs with different storage times, matched samples from 20 adult patients consisting of liquid whole blood (LWB) containing 5 mmol/L EDTA, DBSs eluted in MM solution with 5 mmol/L EDTA or without EDTA. RESULTS: Optimal lead recovery from DBS required 5 mM EDTA in the eluting solution. Mean lead levels of LWB and DBSs eluted with EDTA were similar and higher than DBSs without EDTA (P<0.001). Without EDTA, the median value of lead optical density was lower for 6-month-old DBSs than for blanks (P<0.001). CONCLUSIONS: Residual DBSs can be used for population survey, but 5 mmol/L EDTA in the extracting solution is required to fully recover lead.

Adult↗

PubMed2004

Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation.

The spectrum of phenylalanine hydroxylase (PAH) gene mutations was determined in 25 families of hyperphenylalaninemia identified by a neonatal screening program in Taiwan. The coding sequence and exon-flanking intron sequences of PAH gene were amplified and sequenced. Mutations were identified in forty-five of the 50 chromosomes. R241C was the most common mutation (36% of the chromosomes), followed by R408Q (14% of the chromosomes). The remaining mutations were rare and seven mutations have not been reported before: p.F233L (c.697T>C), p.R252Q (c.756G>A), p.E286K (c.856G>A), p.G312V (c.935G>T), p.P314T (c.940C>A), p.I95del (c.284_286delTCA), and p.T81fsX6 (c.241_256del). Both p.R241C and p.R408Q are classified as mild phenylketonuria (PKU) or mild hyperphenylalaninemia (MHP) mutation, which may explain the fact that classical PKU is very rare in Taiwan (n=4, or one in 413,035). This strong founder effect for the p.R241C mutation has been described neither in the Caucasian populations, nor in other reports from Chinese. Since most of the populations in Taiwan are derived from Southeastern China, the spectrum of PAH gene mutations in Southeastern China should be different from other Chinese populations. This report not only disclose a specific spectrum of PAH gene mutation in Taiwan, but may also give clues to the movement of populations in Mainland China.

Amino Acid Metabolism, Inborn Errors↗

PubMed1997

Educational progress, behaviour, and motor skills at 10 years in early treated congenital hypothyroidism.

AIM: To assess educational attainments, behaviour, and motor skills at 10 years of age in a group of children with congenital hypothyroidism identified by neonatal screening. SUBJECTS: 59 children with congenital hypothyroidism born in 1978-81, 31 cases with pretreatment thyroxine (T4) values of 40 nmol/l or below (group I) and 28 less severe cases with T4 values over 40 nmol/l (group II), together with 59 classroom control children matched for age, sex, social class, and main language spoken at home. METHODS: The Neale analysis of reading ability; the child health and education study written test of mathematics; Rutter behaviour questionnaires for parents and teachers; the Oseretsky test of motor proficiency (short form). RESULTS: On all measures the congenital hypothyroidism children in group I had less satisfactory scores for educational attainments, behaviour, and motor skills than those in group II and controls. For reading the differences were small and did not reach statistical significance, but the deficits in mathematics and total motor skills were statistically significant (p < 0.01). There were more striking and statistically significant differences in behaviour scores, particularly with respect to attentional difficulties. Although less striking, these were also apparent in the group II children with mild hypothyroidism. CONCLUSIONS: At the age of 10 years severe congenital hypothyroidism is associated with some mild impairment in educational and motor attainments. Behaviour problems are also common, even in some children with less severe congenital hypothyroidism.

Child↗

PubMed2002

Methionine adenosyltransferase I/III deficiency: two Korean compound heterozygous siblings with a novel mutation.

Two Korean sisters, one detected during neonatal screening, the other ascertained at age 3 years during family screening, have persistent hypermethioninaemia without elevation of plasma tyrosine or severe liver disease. Plasma total homocysteine (tHcy) is mildly elevated, but not so markedly as to establish a diagnosis of homocystinuria due to cystathionine beta-synthase (CBS) deficiency. CBS deficiency was ruled out by the presence of slightly elevated concentrations of plasma cystathionine. Although the plasma concentrations of methionine were markedly elevated, plasma S-adenosylmethionine (AdoMet) was not. This pattern of metabolic abnormalities suggested that the patients have deficient activity of methionine adenosyltransferase (MAT) in their livers (MAT I/III deficiency). Molecular genetic studies demonstrate that each patient is a compound heterozygote for two mutations in MAT1A, the gene that encodes the catalytic subunit that composes MAT I and MAT III: a previously known inactivating G378S point mutation, and a novel W387X truncating mutation. W387X mutant protein, expressed in E. coli and purified, has about 75% of wild-type activity. Negative subunit interaction between the mutant subunits is suggested to explain the hypermethioninaemia of these sisters. They have had normal growth and development and have no mental retardation, neurological abnormalities, or other clinical problems. They are the first individuals of Korean descent proven to have MAT I/III deficiency.

Amino Acids↗

PubMed2004

Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor.

OBJECTIVE: We wished to ascertain whether mutations in the TSH receptor (TSHR) gene were present in two siblings with congenital hypothyroidism with no parental consanguinity. DESIGN: The pituitary-thyroid axis and thyroid gland morphology were investigated in both affected siblings and their parents. The TSHR gene was analysed in each subject. MEASUREMENTS: Basal thyroid function together with circulating thyroglobulin levels were measured in each subject. In addition, a TRH stimulation test was undertaken in each parent. All family members underwent thyroid ultrasonography. The TSHR gene was amplified from genomic DNA using the polymerase chain reaction and receptor mutations were identified by sequence analysis. RESULTS: Two siblings were diagnosed with severe congenital hypothyroidism (total T4 19-21 nmol/l, TSH 160-230 mU/l on neonatal screening). Although radioiodine scanning showed no tracer uptake and ultrasound imaging in both individuals failed to demonstrate thyroid tissue, suggesting complete athyreosis, circulating thyroglobulin levels were measurable. The thyroid status of the parents was discordant: in the father, baseline thyroid function (FT4 13 pmol/l, TSH 4 mU/l), the peak TSH level after TRH stimulation (30 mU/l) were normal and he exhibited an appropriate rise in circulating thyroid hormones in response to the elevated TSH; in contrast, in the mother, baseline thyroid function was abnormal (FT4 10 pmol/l, TSH 15 mU/l), the TSH response to TRH was exaggerated (110 mU/l), with no subsequent rise in circulating thyroid hormones. An eutopic, slightly hypoplastic thyroid gland was visualized on ultrasonography in the mother and her thyroid antibody status was negative. Both children were compound heterozygotes for missense (alanine to threonine at codon 553, A553T) and premature stop (tryptophan at codon 546, W546X) mutations in the fourth transmembrane domain of the TSH receptor. The mother and father were heterozygous for W546X and A553T mutations, respectively. Each mutation is known to abolish the function or cellular surface expression of the TSH receptor. CONCLUSIONS: Inactivating mutations in the TSH receptor can be associated with severe TSH resistance presenting as congenital hypothyroidism with apparent athyreosis. Our observations also suggest that heterozygosity for an inactivating TSHR mutation may be associated with compensated hypothyroidism and thyroid hypoplasia.

Congenital Hypothyroidism↗

PubMed1990

Elementary school performance of children with congenital hypothyroidism. New England Congenital Hypothyroidism Collaborative.

The aim of this study was to determine whether hypothyroid children treated early as a result of diagnosis after neonatal screening progressed normally in school. The New England Congenital Hypothyroidism Collaborative studied 72 of its patients at the ages of 9 or 10 years after they had completed 3 years of schooling beyond kindergarten. Control subjects were 96 classmates of the same sex and age as the patients and 32 siblings of appropriate age for the testing. Intelligence quotients (IQs) were measured by the Wechsler Intelligence Scale for Children-Revised abbreviated to five items, and school achievement by the Peabody Individual Achievement Test. In addition, a series of neuropsychologic tests was administered to both patients and control subjects. Educational histories were obtained from the parents for 74 patients, 87 of their siblings, 96 classmates, and 96 siblings of the classmates. The IQ of the control subjects (mean +/- SEM) was 109 +/- 1.2 versus 106 +/- 1.4 for the patients. The mean overall achievement score was 109 +/- 0.93 for the control subjects and 108 +/- 1.3 for the patients. These differences are not statistically significant. The regression lines relating overall Peabody Individual Achievement Test scores or subtests thereof to IQ did not differ among the patients and the control groups. Within the groups the regression lines for IQ and the different subtests of school achievement were also identical. The percentages of children repeating a grade, needing extra tutoring, or in special classes were the same for patients and control groups. We conclude that children with hypothyroidism have no apparent specific impediments to learning unrelated to intelligence.

Child↗

PubMed2003

Longitudinal evaluation of bronchopulmonary disease in children with cystic fibrosis.

Children with cystic fibrosis (CF) develop bronchopulmonary disease at variable ages. Determining the epidemiology of chronic lung disease and quantifying its severity, however, have been difficult in infants and young children. As part of the Wisconsin CF Neonatal Screening Project, we were presented with an ideal opportunity to assess longitudinally the evolution of symptoms, signs, and quantitative measures of CF respiratory disease. After newborn screening test results led to early recognition, 64 patients diagnosed at a median age of 6.71 weeks were enrolled and studied systematically at a median age of 11.3 years to obtain clinical information, chest radiographs, and pulmonary function tests. Our observations revealed that a frequent cough by history is evident by 10.5 months of age in half the patients. Quantitative chest radiology (CXR scoring) demonstrated that potentially irreversible abnormalities are present in half the children by 2 years. The severity of Wisconsin and Brasfield CXR scores increased in association with respiratory infections. Longitudinal progression of Wisconsin CXR scores was related to age (P < 0.001), pancreatic insufficiency (P = 0.005), and respiratory secretion cultures positive for Staphylococus aureas (P = 0.039). In contrast, serial spirometry showed limited sensitivity, as did lung volume determinations; neither was satisfactory as repeated measures with acceptable quality control until after 7 years of age. Time to event analyses revealed that half the patients had % predicted FEF(25-75) and FEV(1)/FVC values greater than 80% until 10.7 and 9.9 years, respectively. We conclude that of the methods evaluated, quantitative chest radiology is currently the best procedure for frequent assessment of bronchopulmonary disease in CF, and that radiographic progression is evident in approximately 85% of patients by 5 years of age. Our results also suggest that bronchiectasis and other radiographic evidence of chronic infection are apparent prior to airways obstruction in young CF patients.

Age of Onset↗

PubMed1997

Clinical significance of thyrotropin-binding inhibitor immunoglobulin levels in newborns and their mothers.

We investigated whether determination of thyrotropin-binding inhibitor immunoglobulin (TBII) indices in newborns with hyperthyrotropinemia on neonatal screening, or those born to mothers with autoimmune thyroid diseases, and their mothers could predict the newborns' thyroid status. We selected 195 babies born between 1988 and 1996. TBII indices in the sera of these newborns and their mothers were tested at some time from Day 1 to Day 30 after birth, and followed up after that. The subjects were divided into four groups according to the TBII index. Group 1 consisted of 17 pairs of mothers and newborns who both had serum TBII indices greater than or equal to 15%, including four transiently hyperthyroid and 13 transiently hypothyroid newborns. Group 2 comprised 166 pairs who both had a TBII index less than 15%, including one euthyroid and 165 hypothyroid newborns. Eight of the 165 warranted permanent thyroxine therapy due to athyreosis or ectopic thyroid gland. Group 3 consisted of one pair in which the newborn's serum TBII index was 15% or higher but the mother's was less than 15%: the newborn was transiently hypothyroid. Group 4 comprised 11 pairs in which the newborns' serum TBII indices were greater than or equal to 15% but the mothers' were less than 15%. These 11 newborns were all transiently hypothyroid and nine of them warranted transient thyroxine replacement therapy. The results suggest that the long-term outcome of newborns is good when TBII indices are at least 15% in the mother and child because their thyroid dysfunction seems to be related to the transient presence of the transplacental TBII from the mother. When TBII indices in both mother and child are less than 15%, the newborns warrant further investigation due to the likelihood of permanent hypothyroidism.

Autoantibodies↗

PubMed2001

Acceleration of lung disease in children with cystic fibrosis after Pseudomonas aeruginosa acquisition.

As part of the ongoing Wisconsin Cystic Fibrosis (CF) Neonatal Screening Project, we had the unique opportunity to study the longitudinal relationship between Pseudomonas aeruginosa (Pa) acquisition and infection and developing lung disease in children with CF. The primary objective was to determine whether acquisition of Pa was associated with a measurable change in the progression of lung disease. Two outcome measures were used to study 56 patients who were diagnosed through newborn screening: 1) Wisconsin additive chest radiograph score (WCXR), based on the average of scores from a pulmonologist and a radiologist, and 2) the highest forced expired volume in 1 sec (FEV(1))/forced vital capacity (FVC) ratio. We used two measures of Pa acquisition: 1) time of first positive protocol-determined oropharyngeal (with cough) culture, and 2) the magnitude of antibody titer detected by ELISA assays, using as antigen a crude cell lysate, purified exotoxin A, or an elastase toxoid prepared from three Pa strains. Other predictor variables included age, pancreatic status, height-for age, and weight-for-age-percentiles. The best regression model for predicting changes in the WCXR included time to first positive culture and antibody titer for Pa elastase. Prior to Pa acquisition, WCXR worsened by 0.45 points/year (P > 0.25); after Pa acquisition, the rate of worsening increased significantly (P < 0.001) to 1.40 points/year. Each antibody titer level (log base 2) increased the score by 0.48 points (P < 0.001). The best regression model for predicting change in the FEV(1)/FVC included only time to first positive culture. Prior to Pa acquisition, the FEV(1)/FVC ratio declined by 1.29%/year; after Pa infection, the rate of decrease significantly accelerated to 1.81%/year (P = 0.001). Our data show that Pa acquisition is associated with declining pulmonary status in children with CF, and that this effect is probably gradual rather than precipitous. Because these patients were diagnosed and treated aggressively, our estimates of the effects of Pa acquisition may be conservative. We also conclude that the WCXR appears to be more sensitive than FEV(1)/FVC in detecting early changes in lung disease associated with CF.

Age Distribution↗

PubMed2001

Ultrasound screening of the neonatal hip: cost-benefit analysis.

AIM: To explore the economic justification for introducing ultrasound screening for developmental dysplasia of the hip in Croatia. METHODS: The analysis was based on the two formulas: that cost-benefit equals benefit/cost, and that net benefit equals benefit minus cost. Screening costs were expressed as a sum of training costs and fee for ultrasound screening of neonates. The neonatologists' working hours and utilization of ultrasound instruments were expressed by multiplying the number of infants born per year in Croatia (N = 47,792) with the standard time needed for one examination and then dividing the product by the number of employed neonatologists (N = 54) and number of ultrasound instruments (N = 58). The benefit was expressed as a late case treatment costs and screening costs ratio. Savings, which would have resulted from the reduction in expected treatment costs of patients with hip problems at later age, represent the indirect benefit. RESULTS: Total hip screening costs would have amounted to US$329,537.80, including the training costs of US$31,035.90. On the average, a neonatologist would spend 71.4 hours screening per year, whereas the instrument utilization would be 64.7 hours. An ultrasound-screening program would save annually US$195,336.50, compared with the existing diagnostic approach. The treatment costs without ultrasound screening were 1.6 times higher than the screening costs. Hospital treatment costs for 165 patients needing endoprosthesis would cover the total screening program in the whole country. CONCLUSION: It is economically justified to introduce ultrasound screening for developmental dysplasia of the hip in neonates in Croatia, a country with transitional and developing economy.

Cost-Benefit Analysis↗

PubMed1996

Feasibility of acoustic distortion product testing in newborns.

Acoustic distortion products (ADP) have been used as a neonatal screen for newborn, full-term infants resident on maternity wards. ADPs were measured across frequency with f2 (the higher frequency tone) between 1 and 8 kHz and the f1 (the low frequency tone) determined by f2/1.225. Testing was attempted on 77 infants. Of these, 13% were untestable, 69% were tested in both ears and 18% had one ear tested; 48% gave data from both ears and 25% gave data from one ear. If results from both ears were required to pass the test, 52% would fail. Of the 67 babies that could be tested, 27 out of 120 ears gave no result: a failure rate of 22.5%. It was often not possible to record ADP across all the frequencies tested, but only four babies out of the 31 who were tested at each frequency bilaterally showed no ADP at any frequency. Older babies (4-6 days old) gave distortion at more frequencies than younger babies (0-3 days old). ADP were most easily recorded with f2 at 3 and 4 kHz. Lower incidence of ADP at frequencies below 3 kHz could be explained by greater levels of background noise. Left or right ears and method of delivery did not affect the ability to record ADP, but, unexpectedly, boys showed a higher incidence of ADP (though not higher level) than girls. Behavioural testing of the infants was carried out at 7 months of age without knowledge of the previous ADP test results. It yielded three referrals (out of 52 who could be followed up), one of whom was re-tested and passed. The two remaining infants were among the four who gave no distortion bilaterally, indicating accurate prediction by the ADP measure. It was concluded that ADP measurement alone at birth would lead to an unnecessarily large number of referrals for further investigation. This high failure rate may be reduced by measurement methods designed to avoid or cancel infant-generated noise, and by sound-treated facilities, but the lack of co-operation by the infant coupled with limited test time poses a more serious problem.

Acoustic Stimulation↗

PubMed1998

Hearing screening in at-risk neonate cohort.

OBJECTIVE: This prospective study reports on the prevalence of hearing impairment in an at-risk neonatal intensive care unit (NICU) population. DESIGN: From 1990 to 1997, 942 neonates were screened with transient evoked otoacoustic emissions (TEOAE) and brainstem evoked response audiometry (BERA). RESULTS: 835 Infants passed the primary screen for both ears, 57 for one ear, adding up to 94.7%. Seventeen infants (1.9%) were lost to follow-up. In thirteen infants (1.4%), bilateral hearing impairment above 30 dB was confirmed. While all children with hearing impairment belonged to the group of 820 children receiving aminoglycosides, only one presented no other risk factors. In 11 of the hearing impaired children other anamnestic factors, i.e. dysmorphism, prenatal rubella or cytomegaly, family history of hearing loss or severe peri- and postnatal complications seem to be more probable causes of the identified hearing loss. CONCLUSIONS: From our data, aminoglycosides seem not to be an important risk factor for communication related hearing impairment, when serum levels are continuously monitored, as occurred in our cohort. After adjustment for other risk factors, birth weight between 1000 and 1500 g and a gestational age between 29 and 31 weeks were no predictive markers for hearing impairment. It might be speculated that the improved medical treatment in a Neonatal Intensive Care Unit (NICU) reduces the probability of hearing impairment for those two groups. Conductive hearing loss as a possible additional cause for hearing impairment was not studied in detail, but the high percentage of malformations detected (four out of 13 hearing impaired infants) demands further monitoring, close follow-up, counselling and adequate treatment.

Acoustic Stimulation↗