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PubMed2001

[Evaluation of the postnatal treatment efficacy in congenital toxoplasmosis identified by the newborn screening programme].

The effectiveness of neonatal screening for anti-Toxoplasma IgM or IgA and IgM specific antibodies followed by an intensive anti-parasitic therapy for a prevention of clinical and immunological reactivations of congenital infection was studied. Thirty-five congenitally infected infants were included into clinical and serological follow-up. The children were mostly asymptomatic at birth or they expressed some non-specific reversible clinical abnormalities in neonatal period. Clinically overt toxoplasmosis occurred in 10 patients, including one infant with a severe form; 2 children had co-existing CMV infections. During the follow-up period, no clinical relapses were reported. Asymptomatic immunological rebounds of IgG or of IgG and IgA specific antibodies were observed in 16 patients. Anti-parasitic treatment initiated soon after birth seems to be promising in a prevention of early clinical sequelae of congenital T. gondii infection.

Animals↗
PubMed2001

A hospital based universal neonatal hearing screening programme using click-evoked otoacoustic emissions.

Since 1997 a hospital-based universal hearing screening programme (Milan Programme) has been carried out at the Neurophysiopathology Unit of the Mangiagalli Clinic in Milan, for the early identification of hearing loss in neonates (5650 well babies, 749 newborns from the Neonatal Pathology Unit (NPU) without risk for hearing loss and 118 newborns at risk for hearing loss). As a result, considering the well baby population, three pathological neonates (one profound bilateral and two unilateral hearing loss) were identified. Three additional cases were found among the NPU newborns, whereas 16 cases with bilateral and 11 with unilateral hearing loss were found among the at-risk babies.

Acoustic Stimulation↗
PubMed1998

Neonatal hearing screening using otoacoustic emissions elicited by maximum length sequences.

The aim of this study was to provide statistical information on otoacoustic emission (OAE) measurements in new-born infants, which could be useful in the interpretation of results and could add some clinical parameters that might be used for future objective and automatic response evaluations. Transient evoked OAEs (TEOAEs) using maximum length sequences (MLS) were recorded in 129 full-term new-born infants between 48 and 72 hours of age. The use of MLS enabled stimulus rates of up to 2000/sec to be utilized. The analysis comprised five main issues: (1) signal to noise ratio (S/N); (2) derived non-linear responses; (3) a combination of derived non-linear emissions called compound non-linear emissions; (4) time/frequency analysis and (5) signal power analysis. The result of the analysis were as follows. (1) The largest S/N ratio was obtained when more than 60% of the recordings were rejected. (2) The derived non-linear emissions comprised level non-linear and rate non-linear responses, the latter obtained by subtraction of recordings at fixed stimulus level, but at different stimulus rates. The rapid suppression of emission amplitude as the stimulus rate increases is the basis for this non-linear response which also features stimulus cancellation. (3) The compound non-linear emissions, consisting of a sum of derived non-linear responses may prove efficient by proper selection of stimulus parameters, but did not in the present form show the expected improvements of amplitude and stimulus cancellation. (4) The time/frequency analysis, however, based on calculations of the instantaneous frequency as a function time after stimulus onset, showed a consistent tendency of falling frequency versus time after stimulus onset as a basic characteristic feature of OAE. (5) The analysis of the emission power as a function of time after stimulus onset showed that linear recordings in new-born infants are reliable, with stimulus ringing fully decayed 3 ms after the stimulus onset. The findings may prove useful in future attempts to develop screening equipment with automatic response evaluation for new-born infants. From a clinical point of view the MLS technique was successful when measuring emissions in neonates, owing to the fast recording time and the utilization of an efficient noise rejection paradigm.

Acoustic Stimulation↗
PubMed2003

Early versus late diagnosis: psychological impact on parents of children with cystic fibrosis.

OBJECTIVES: To explore the relationship between the period preceding diagnosis and the way parents of children with cystic fibrosis (CF) experience and handle their child's disease. DESIGN: A retrospective study. SETTING: CF Center "Noordwest Nederland," the Netherlands. PARTICIPANTS: Participants were the parents of children <13 years old with CF who were treated at the CF Center "Noordwest Nederland." The participants were divided into 2 groups according to the duration of prediagnostic period: <3 months (defined as early diagnosis) and >or=3 months (defined as late diagnosis). MAIN OUTCOME MEASURES: Experience of the prediagnostic period, contact with the medical profession, coping, future perspective, and attitudes toward neonatal screening for CF. RESULTS: Parents of 55 children were eligible for study participation; 45 were enrolled. Retrospectively, the period preceding an early diagnosis was less negatively experienced by parents than the period preceding a late diagnosis. Parents of children with an early diagnosis had retrospectively more confidence in the medical profession before confirmation of diagnosis. In general, parents in this study used adaptive coping styles. Duration of prediagnostic period was not significantly related to future perspective. Hopelessness seemed to be mainly determined by a severe course of disease as experienced by the parents. Ninety-eight percent of all parents were in favor of neonatal screening for CF. CONCLUSIONS: A short prediagnostic period is associated with less negative feelings and increased confidence in the medical profession among parents of children with CF. Neonatal screening for CF may be of benefit to parents by removing the stress of a delayed diagnosis.

Adaptation, Psychological↗
PubMed2002

Incidence and short-term outcome of children with symptomatic presentation of organic acid and fatty acid oxidation disorders in Germany.

OBJECTIVE: To determine the incidence of symptomatic children with inherited organic acid disorders (OADs) and fatty acid oxidation disorders (FAODs) in Germany. METHODS: An active surveillance of symptomatic children with inherited OADs and FAODs was conducted during a time period of 24 months (1999-2000) in Germany. Monthly inquiries were sent to all Departments of Pediatrics by the German Pediatric Surveillance Unit (ESPED) and quarterly to all specialized metabolic laboratories. Newly diagnosed patients were added to the database, recording clinical and biochemical information via a standardized questionnaire. RESULTS: Prospective surveillance enrolling 844 575 children identified a total of 57 symptomatic children with newly diagnosed OADs or FAODs in states with conventional neonatal screening, resulting in an estimated cumulative incidence of 1:14 800. The most frequent diagnosis among these children was medium-chain acyl-CoA dehydrogenase deficiency (n = 20). The majority of symptomatic children revealed clinical symptoms during the first year of life (n = 36), frequently presenting with acute metabolic crises (n = 31). Eight children died during these crises. Notably, 47 of the symptomatic children suffered from diseases potentially detectable by expanded neonatal screening programs. This subgroup included 29 children presenting with metabolic crises and 7 of the 8 deaths. CONCLUSIONS: Despite increased clinical awareness of OADs and FAODs, the mortality and morbidity for these children remains high, if they are diagnosed after manifestation of clinical disease. An introduction of nationwide neonatal screening programs would change the focus for organic acid analysis from patients presenting with acute metabolic crises to more chronic clinical presentations, especially the cerebral organic acid disorders.

3-Hydroxyacyl CoA Dehydrogenases↗
PubMedDate not supplied

[Screening for neonatal hypothyroidism by estimation of T4 and TSH. Experience of three years on 6.340 new-borns (author's transl)].

Since June 1977 to June 1980 screening program for neonatal hypothyroidism was carried out in the area of Vicence. 6.340 newborns were screening, in the fifth day of life, primarily by measuring T4 levels, later by measuring both T4 and TSH levels in the blood serum. Three babies were proved to have neonatal hypothyroidism: two cases showed athyreotic hypothyroidism, and one case was due to familial thyroid dyshormonogenesis. The incidence of this condition in our area is much higher than 1:3.000 newborns. Two cases of familial deficit of thyroxine-binding globulin and two subjects with partial enzymatic deficiency were also detected.

Humans↗
PubMed1986

Biochemical aspects of congenital adrenal hyperplasia.

The assay of 17 alpha-hydroxyprogesterone in blood spots on filter paper forms the basis of neonatal screening programmes to detect congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. The blood concentrations of this hormone in the neonate varies with gestation age (term v preterm), age after birth, time of day and illness. Broad reference ranges for blood spot 17 alpha-hydroxyprogesterone concentrations are therefore quoted for healthy term infants and these ranges are not appropriate for the interpretation of values in preterm and sick newborns. There is a risk of a false-negative or of a false-positive diagnosis. Many of the above difficulties may result from variations in assay performance due to changes in the pattern of steroids produced by the adrenal gland which in turn relate to morphological changes in the adrenal cortex at this age. The purpose of this presentation is to define the complex steroid milieu of the newborn human and briefly to review the factors which determine the function of the adrenal gland, since these influence the extent to which an assay for this steroid needs to be evaluated before application to neonatal screening for CAH. The data to be presented derive from the capillary column gas chromatographic analysis (GC) of steroids in urine since this provides the best method to display the overall steroid production of the organism. The GC method has itself been refined so that CAH can now be reliably diagnosed using this method, but the information from this work will also be judged for its relevance to the problems encountered in the neonatal screening for CAH by blood spot analysis.

Adrenal Cortex Hormones↗
PubMed1988

[Screening for hereditary diseases. What other screening?].

Faced to the success of the neonatal screening for phenylketonuria and congenital hypothyroidism, it was tempting to introduce screening of other metabolic diseases. "Ideal" diseases to be screened are treatable, are not easily recognized by clinical means during the neonatal period, need immediate therapy to prevent irreversible disabilities, have a reasonable frequency and can be detected by and easy test. There is some controversy concerning the list of diseases recommended for mass screening, among them four can be discussed: congenital adrenal hyperplasia, due to 21-hydroxylase deficiency, fulfils most of the criteria, but some changes in the general screening strategy should be made to provide a result as soon as possible, and at least before the 10th day of life; cystic fibrosis, immunoreactive trypsin is a good marker of the disease but its assay needs technical adaptation for mass screening; more information are also required about the efficacy of an early management of the disease; Duchenne muscular dystrophy has a good marker for neonatal screening (creatine kinase), but no treatment exists and the possibility of genetic counselling can only be provided; hypercholesterolaemia is a frequent disease; however, the good marker and the adequate treatment remain to be defined. Pilot programmes, on the behalf of the French Association for Neonatal Screening, are evaluation these problems. However, at the present time, a consensus has been reached that only phenylketonuria and hypothyroidism fulfils criteria for an efficient mass screening programme.

Adrenal Hyperplasia, Congenital↗
PubMed1991

Nutritional assessment of infants with cystic fibrosis diagnosed through screening.

Presymptomatic infants diagnosed through neonatal screening for cystic fibrosis can have biochemical evidence of malnutrition. With aggressive dietary management and treatment with pancreatic enzymes, normal biochemical indices of nutrition can be achieved at 12 months of life in most cases. Males with cystic fibrosis appear to be more at risk than females for abnormal growth and biochemical indices of nutrition in the first year of life. This may be related to the observed decrease in fat intake when compared to females. Males, especially, should be carefully observed for development of nutritional abnormalities based on this data. Careful attention should be paid to vitamin E and essential fatty acid status in all CF infants. The numbers in this study are small and the long-term consequences of early nutritional intervention await the conclusion of the randomized, controlled study on-going in Wisconsin.

Cystic Fibrosis↗
PubMed1995

[Deafness in the neonatal period: basis for screening].

Deafness must be recognized in infancy in order to reduce auditory disability to a minimum. To achieve this, it is important to implement screening programmes as soon after birth as possible. In the United States, the Joint Committee on Infant Hearing recommended in 1982 that identification of hearing loss should be screened in the neonatal period. This early detection is now considered critical for optimal rehabilitative outcome. This paper presents the "state of art" neonatal screening principles and procedures. In France, neonatal screening programs for auditory dysfunction are not consistent with these principles. Evoked otoacoustic emissions represent an important advance in screening for hearing loss in normal neonates and babies from neonatal intensive care units. This method records very low intensity sound energy released by the cochlea in response to a brief sound stimulation. These otoacoustic emissions show promise as a rapid, cost-effective means of quickly discharging all babies with normal peripherical auditory systems.

Deafness↗
PubMed2006

Haemoglobinopathy screening in an maternity hospital.

Recent changes in population movement mean that an increasing number of mothers who deliver in Ireland and their infants are at risk of haemoglobinopathies, in particular sickle cell anaemia. Early detection of sickle cell anaemia improves outcome. For this reason, many hospitals have established antenatal and neonatal screening programmes targeting high-risk ethnic groups. We audited the provision rate of one such programme operated in the National Maternity Hospital in 2003. Using the hospital's databases, we estimated the number of mothers from high-risk ethnic groups, and how many were appropriately screened. We then calculated the neonatal screening provision rate to those infants at risk of homozygous haemoglobinopathies. In 2003, 1231 (14.9%) women from high-risk ethnic groups delivered in the National Maternity Hospital. Nine hundred and ninety one (80.5%) were screened appropriately. One hundred and thirty of these women had abnormal antenatal screens, resulting in 131 infants delivered at risk of homozygous haemoglobinopathy. Fifty eight of these infants (45%) were screened in the neonatal period. The screening programme audited did not achieve a satisfactory provision rate either antenatally or neonatally.

Ethnicity↗
PubMed1975

Screening for neonatal hearing disorders in the Province of Central Finland.

Screening for congenital hearing disorders in newborn infants has been carried out in the Province of Central Finland since 1967. In 1967-1971, a total of 23 children (12 boys and 11 girls) were found to have congenital hearind disorders. From this it can be calculated that 90 infants are born each year with congenital hearing disorders in Finland. Our sample did not include slight or moderate hearing disorders (under 45 dB). 11 children under the age of 18 months were provided with a hearing aid. In spite of the screening, 12 cases (mean age 2 years) were not diagnosed until they came to the phoniatric clinic because of delayed speech development. These children were presumably also congenitally deaf. Most of the children in the delayed group reacted favourably to the auropalpebral reflex test on the obstetrical ward; their speech development was better and they also profited more from having a hearing aid than those children whose hearing defect had been discovered earlier. Screening for hearing disorders should be made nation-wide in order to avoid the harmful effects of the delay of rehabilitation on the child's development. The possibility of a hearing disorder should be kept in mind in those cases where there is a delay in speech development and also in those cases where the child has some other severe congenital defect which demands the attention of the nursing staff.

Child, Preschool↗
PubMed1999

Glucose-6-phosphate dehydrogenase deficiency in Thailand; its significance in the newborn.

The prevalence of G6PD deficiency in Thai males ranges from 3-18% depending upon the geographic region. G6PD "Mahidol" (163 Gly --> Ser) is the most common variant found in the Thai population. Almost all affected Thai individuals are not anemic and are asymptomatic. Severe acute intravascular hemolysis is occasionally seen, for instance, in those cases who have a viral infection, bacterial infection or have been exposed to chemicals or drugs. In Thailand, diagnosis of G6PD deficiency is usually made only in symptomatic cases. Neonatal screening of G6PD deficiency is not practiced nationwide, though studies have been done in several institutes. The assessment of G6PD activity in the newborn is mostly in order to find out the cause of neonatal jaundice. In our experience and that of others. G6PD deficient newborns are more prone to develop neonatal jaundice which is, on its own, no more severe than jaundice from other causes. Kernicterus due to G6PD deficiency, though still seen, is now very rare. Awareness of the hazard of hyperbilirubinemia, whatever the cause, along with active management is needed to prevent the occurrence of kernicterus. Neonatal screening is useful to detect abnormalities in the newborn. Weighing of the cost and benefit of neonatal screening should be made and the families of patients should be offered proper education and counseling to help them understand their babies' condition.

Glucosephosphate Dehydrogenase Deficiency↗