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PubMed2003

[Preliminary results of objective audiological assessment of children with hearing impairment selected in neonatal hearing screening].

The aim of the paper was to present the results of the objective audiological assessment of 48 babies and infants at the age of 1-16 months, referred the Department of Phoniatrics and Audiology in Poznań (Poland) from January 2001 to July 2002. The children were selected in neonatal hearing screening, based on the OAE, questionnaire of hearing loss with high risk factors. We discuss high percentage of false positive results of OAE, late referrals for hearing screening, difficulties of follow-up.

Child↗
PubMed2006

[Young children with serious disorders as a result of late diagnosis of cystic fibrosis].

A girl and a boy, who both presented with recurrent respiratory infections from birth, were referred to a paediatrician at the age of 2.5 years: they were diagnosed with cystic fibrosis (CF). The girl died from respiratory insufficiency at the age of 6 years and the boy at the age of 13 years from pulmonary aspiration. A further girl and boy who presented with abnormal faeces and failure to thrive were referred to the paediatrician at the ages of 2.5 months with haematomas and 2 weeks with anaemia respectively, as a result of vitamin deficiencies due to malabsorption. They too had CF. The girl had a brain haemorrhage in the meantime that left her with serious impairments. The boy recovered. A delay in diagnosing CF is not uncommon, as the symptoms of CF are hard to differentiate from those of common childhood diseases. However, this diagnostic delay can result in serious organ damage. Current treatment of CF has a predominantly prophylactic character and aims at maintaining normal growth and nutritional status as well as at preventing or postponing chronic bacterial infection of the lower respiratory tract. This treatment is most effective when it is started before any organ damage has occurred: a state that can only be achieved when patients with CF are identified shortly after birth. Therefore, it is important to add CF-screening to the neonatal screening program.

Adolescent↗
PubMed2000

[Neonatal hearing screening].

Approximately 1 to 2 per thousand live-born infants suffer from a serious perceptive hearing loss. Normal hearing from birth is essential for optimal human development (language and speech, social and emotional development, communicative skills and learning). The earlier the hearing loss is diagnosed the better the prognosis for the infant with a hearing impairment. Suitable methods are now available for neonatal hearing screening: automated measurement of auditory brain stem response and measurement of oto-acoustic emissions. Screening must be viewed as only the first step in a program of diagnosis, treatment and habilitation of these children. The ultimate goal of the implementation of neonatal hearing screening is: identification of bilateral hearing losses before the age of 3 months and start of therapy and counselling before the age of 6 months.

Age Factors↗
PubMed2000

[Neonatal hearing screening by evoked otoacoustic emissions].

AIM: To describe the implementation of a program for the early detection of deafness in newborn infants in a private hospital. METHODS: Between August 1, 1994 and July 31, 1999, 1,750 neonates from the nursery and neonatology unit of our hospital were studied using evoked acoustic emissions (EAE). Screening was performed after the first 24 hours of life and after parent consent had been obtained. RESULTS: The coverage (number of neonates screened using otoacoustic emissions compared with the total number of live births) increased from 6% in 1994 to 37.5% in 1999. Six mild moderate neurosensory hypoacusis were detected; overall results were 4% hypoacusis and 2.3% bilateral hypoacusis. CONCLUSIONS: This study demonstrates that hardness of hearing can be detected at birth by means of EAE. Because of lack of awareness in the general population, universal screening is difficult. Consequently, governments and medical organizations should legislate for such screening programs and should make the general population aware of them.

Audiometry, Evoked Response↗
PubMed1980

[Screening for neonatal hypothyroidism by measurement of both T4 and TSH in dried blood eluates (author's transl)].

Systematic screening for neonatal hypothyroidism has been undertaken since January 1977 in Southern France by the measurement of both T4 and TSH in dried blood eluates. 76,432 measurements were performed in 3 years and 22 cases of hypothyroidism were detected. There were several advantages of this method; detection of all forms of thyroid disease, immediate diagnosis of primary hypothyroidism with T4 < -2 S.D. and TSH > 80 microU/ml, decrease in the number of false positive results, detection of some false negative values with normal T4 but high TSH values. In Southern France the frequency of thyroid abnormalities is 1/34,000 births. The causes of these abnormalities in 22 cases was as follows: Absent thyroid (10), ectopic thyroid (11) and one thyroid in the normal position. In all cases TSH levels were above 80 microU/ml but in six cases with ectopic thyroids the T4 levels were between -1 and -2 S.D. These cases would not have been detected with T4 measurements alone.

Congenital Hypothyroidism↗
PubMed2001

Neonatal hearing screening with transient evoked otoacoustic emissions--retrospective analysis on performance parameters.

The present paper reports on the implementation of a maternity based neonatal hearing-screening program in a private hospital. A retrospective analysis is performed on the test pass rate, the coverage and the number of children that become lost to follow-up. The data show a steady learning curve with a time course of several years. In the current screening practice, the test pass rate is at 99.0%, the coverage is at 96% (birth rate of 2000 per annum) and almost no babies get lost to follow-up.

Follow-Up Studies↗
PubMed1998

[Neonatal hearing screening with the Echosensor automated device for otoacoustic emissions. A comparative study].

Following the recommendations of the United States National Institutes of Health Consensus Conference in 1993, otoacoustic emissions (OAE) are now used internationally for hearing screening. The use of recording systems as well as the interpretation of results requires specially trained personnel although measurements are easier to perform than other recording methods available. To date, no objective method for general hearing screening, has been introduced in Germany, for neonates or children at risk, even though it would be desirable to detect and rehabilitate children with congenital hearing loss as early as possible (incidence, 1-6 per 1000). The Echosensor provides the means for carrying out OAE recordings within a short period of time and includes an automatic evaluation of results. Recordings can also be made by trained personnel. As a comparison test, audiologically trained staff recorded otoacoustic emissions in 111 new-born children in order to compare the results of the Echosensor with the results of a conventional OAE measurements device (the ILO88). The aim of this pilot study was to determine the reliability and validity of the recordings in comparison with available standards in brainstem audiometry. Our study showed that the results of the Echosensor corresponded well with the ILO88 results. Consequently, an OAE measuring method is now available is also provides high sensitivity and specificity and is easy to use. Our findings show that the Echosensor can meet the demands of systematic hearing screening in Germany.

Acoustic Impedance Tests↗
PubMed2004

Cognitive function of children with cystic fibrosis: deleterious effect of early malnutrition.

OBJECTIVE: Patients who have cystic fibrosis (CF) and experience delayed diagnosis by traditional methods have greater nutritional insult compared with peers diagnosed via neonatal screening. The objective of this study was to evaluate cognitive function in children with CF and the influence of both early diagnosis through neonatal screening and the potential effect of early malnutrition. METHODS: Cognitive assessment data were obtained for 89 CF patients (aged 7.3-17 years) during routine clinic visits. Patients had been enrolled in either the screened (N = 42) or traditional diagnosis (control) group (N = 47) of the Wisconsin CF Neonatal Screening Project. The Test of Cognitive Skills, Second Edition was administered to generate the Cognitive Skills Index (CSI) and cognitive factor scores (Verbal, Nonverbal, and Memory). RESULTS: Cognitive scores in the overall study population were similar to normative data (CSI mean [standard deviation]: 102.5 [16.6]; 95% confidence interval: 99.1-105.9). The mean (standard deviation) CSI scores for the screened and control groups were 104.4 (14.4) and 99.8 (18.5), respectively. Significantly lower cognitive scores correlated with indicators of malnutrition and unfavorable family factors such as single parents, lower socioeconomic status, and less parental education. Our analyses revealed lower cognitive scores in patients with low plasma alpha-tocopherol (alpha-T) levels at diagnosis. In addition, patients in the control group who also had vitamin E deficiency at diagnosis (alpha-T < 300 microg/dl) showed significantly lower CSI scores in comparison with alpha-T-sufficient control subjects and both deficient and sufficient alpha-T subsets of screened patients. CONCLUSION: Results suggest that prevention of prolonged malnutrition by early diagnosis and nutritional therapy, particularly minimizing the duration of vitamin E deficiency, is associated with better cognitive functioning in children with CF.

Adolescent↗
PubMed1997

Neonatal TSH screening--an instrument of iodine supplementation monitoring in Bulgaria in comparison to Berlin--a preliminary report.

The challenge to eradicate iodine deficiency disorders (IDD) by the year 2000 worldwide will have positive consequences for more than 20 million people suffering from IDD. This is the main and common goal for the developing but also for a lot the developed countries. Sensitive tools like neonatal thyroid screening (NTS) can be used in order to make changes in iodine supplementation more transparent and to have a dynamic target oriented approach. The comparison between six districts in Bulgaria and Berlin revealed despite of some positive changes after the fortification of the iodine supplementation program still existing iodine deficiency in Bulgaria which is more profound than in Berlin in 1990. The shift to higher TSH-values in the Black-Sea region, classified by goitre-prevalence in 1956 as non-endemic for iodine deficiency, needs further investigation. Besides of iodine deficiency an influence of iodine-containing disinfectants and/or goitrogens is possible.

Berlin↗
PubMed1994

Routine ultrasound screening for neonatal hip instability. Can it abolish late-presenting congenital dislocation of the hip?

We have undertaken routine ultrasound screening for neonatal hip instability in Coventry since June 1989. Of the 14,050 babies scanned during the first three years, 847 (6%) had ultrasound abnormalities. A grading system, based on the percentage of femoral head coverage, is presented. The proportion of abnormal hips decreased gradually so that by nine weeks, 90% had normal ultrasound appearances. Abnormality was more common in babies with a family history of CDH and in breech presentations. All babies with clinically abnormal hips had an abnormal first ultrasound examination. Five babies not diagnosed by clinical examination and with no risk factors had abnormal ultrasound appearances and were subsequently found to have clinically abnormal hips. Routine ultrasound screening has detected cases which would otherwise have presented late.

Female↗
PubMed1999

Otoacoustic emission criteria for neonatal hearing screening.

Transient evoked otoacoustic emission measures are gaining acceptance as a technique in new-born hearing screening. At present a wide variety of pass-fail screening criteria are used in otoacoustic emission screening programs. In a study of 100 special care neonates and 35 well, full term babies, a number of screening criteria were examined for sensitivity and specificity characteristics when compared to a standard auditory brainstem response protocol. Results indicate that, for normal and special care neonates with a gestational age at test of 38-41 weeks, high sensitivity ( > 80%) could be obtained when a pass-fail criterion involving analysis of emission reproducibility, or emission reproducibility and emission response level, was set. Sensitivity was reduced for special care neonates who fell outside this age range. Specificity was found to be relatively low overall (always < 65%) and may relate to clinical factors in special care neonates not investigated in this study.

Evoked Potentials, Auditory, Brain Stem↗
PubMed2005

Umbilical cord blood TSH levels in term neonates: a screening tool for congenital hypothyroidism.

This study was conducted to find normative values for thyroid stimulating hormone (TSH) in 1200 cord blood samples of term babies whose mothers were not on any thyroid medications. TSH was estimated within 24 hrs by enzyme immunoassay. A full thyroid profile, viz, T3, T4, TSH, fT3 and fT4 was done at 7-10 days of age in all babies with cord TSH >20 mIU/L. The mean, median and standard deviation for the TSH values for the cohort were 6.13 mIU/L, 5.8 mIU/L and 4.523 respectively. 22 babies with TSH values >20 mIU/L were given repeat tests. Hypothyroidism was confirmed in two of these babies. We conclude that a cut off value of TSH >20 mIU/L is adequate for neonatal thyroid screening in Indian settings.

Congenital Hypothyroidism↗
PubMedDate not supplied

[Thyroid function in children with Down's syndrome].

The aim of the present study was to evaluate thyroid function in 45 Down's syndrome patients in order to verify the hypothesis of an increased risk of thyroid disorders associated with trisomy 21. A patient with subclinical hypothyroidism (TSH 16.6 microU/ml; T4 6.4 micrograms/dl) was diagnosed in a group of 28 subjects with Down's syndrome studied at a mean age of 6 years and 5 months using T3, T4, FT3, FT4, TSH assays and clinical examination. T4 and TSH values were also measured in 10 of these children at the neonatal screening. One infant presented transient neonatal hyperthyrotropinemia but later became euthyroid. The analysis of thyroid hormone values at the neonatal screening of other 17 subjects with Down's syndrome did not reveal other cases with thyroid function disorders. The results of this study highlight that altered thyroid functions are evident in children with trisomy 21 associated with heart anomalies. A careful clinico-endocrinological follow-up of patients with Down's syndrome is recommended in order to ensure an early diagnosis of thyroid function disorders and/or autoimmune diseases which might complicate the evolution of trisomy and negatively affect outcome.

Adolescent↗
PubMed1994

Cystic fibrosis screening in neonates--measurement of immunoreactive trypsin and direct genotype analysis for delta F508 mutation.

This study investigated the clinical usefulness of screening for cystic fibrosis (CF) in 19,992 newborns, over 39 months, in an Austrian population. Immunoreactive serum trypsin (IRT) determination was followed by sweat chloride analysis (sweat test) to establish diagnosis. In a retrospective analysis covering 6 months of the study period, individuals who were considered to be at risk after IRT estimation (n = 22) were analysed for delta F508 mutation, using a new method of DNA extraction from the initial dried blood specimens. A total of 119 infants (0.6%) had values greater than 750 ng trypsin/ml whole blood. In 88 babies sweat tests were performed, leading to the diagnosis of CF in 11 cases. One patient was not initially identified by screening but was later discovered due to his clinical status. Three infants were noted to carry the delta F508 mutation (1 homozygous, 2 heterozygous). Two of these babies already had CF. The second heterozygote was a carrier. A highly efficient three tier screening strategy is presented in which IRT estimation, determination of delta F508 status and sweat chloride testing could lead to a high sensitivity analysis of this population.

Cystic Fibrosis↗