Joint Committee on Infant Hearing 1994 Position Statement.
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American Speech-Language-Hearing Association↗
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Results for “Neonatal Screening”
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Dystrophin: a clinical perspective.
Dystrophin, the protein product of the gene related to Duchenne and Becker muscular dystrophies, is a large cytoskeletal protein associated with the muscle fiber membrane. Recently identified dystrophin-related myopathies affecting animals can serve as experimental models for human disease. Immunologic detection of dystrophin in clinical muscle biopsies provides a direct biochemical test for both Duchenne and Becker muscular dystrophies. Applications of dystrophin testing include improved diagnostic accuracy, carrier detection, fetal diagnosis, and evaluation of asymptomatic male infants identified as a result of neonatal screening for increased serum creatine kinase levels. Identification of dystrophin has brought us to the point of addressing rational therapies.
Disease Models, Animal↗
Simultaneous detection of two cystic fibrosis alleles using dual-label time-resolved fluorometry.
A simple dual-label hybridization test for normal and mutant cystic fibrosis (CF) alleles is described. The assay is based on time-resolved fluorometry (TRF), which allows the simultaneous detection of DNA probes labelled with different lanthanides from one hybridization reaction. DNA was liberated from dried blood disks, normally used in neonatal screening programmes, by boiling in alkaline solution. A 138 bp region including the site of deletion, delta F-508, which is present on about 70% of cystic fibrosis chromosomes, was amplified using the polymerase chain reaction (PCR). The presence or absence of normal and mutant alleles was then determined in a solution hybridization using allele specific oligonucleotide probes labelled either with europium (Eu) or with samarium (Sm) chelates. A common biotinylated probe was used for binding the hybrids onto microtitration wells coated with streptavidin. Some 5 x 10(7) molecules of the normal allele (Eu) and 5 x 10(8) molecules of the mutant allele (Sm) could be detected simultaneously in a single hybridization reaction. The assay was simple to perform and made it possible to reduce the number of hybridizations needed to interpret the sample as being normal, carrier or mutant with regard to the mutation, delta F-508.
Alleles↗
Epidemiology of neuromuscular disorders in the under-20 population in Bologna Province, Italy.
A retrospective epidemiological survey of the principal neuromuscular disorders was undertaken in the population under the age of 20 yr in Bologna city and province. The incidence of Duchenne muscular dystrophy (DMD) proved to be 25.8 x 10(-5), that is, comparable with the outcome of neonatal screening studies. The incidence of spinal muscular atrophy (SMA) was very high (11.2 x 10(-5), probably the result of our greater awareness and recognition of this disorder. The prevalence of neuromuscular disorders in the 0-19 yr population is 1.5 times that in the general population; that of DMD is 28 x 10(-5) vs 6.3 x 10(-5) and that of the SMA 6.5 x 10(-5) vs 1.2 x 10(-5). Our results indicate that neuromuscular disorders, particularly DMD and SMA I and II, have a much higher prevalence in the first two decades of life than is generally thought. Awareness of the higher prevalence of neuromuscular disorders among the under-20s is essential to the adequate planning of medical services.
Adolescent↗
[New developments in 2005 for the management of visual deficit in the infant].
The main progress in ophthalmopediatrics is the knowledge of the importance and efficacy of visual refraction defects screening. This screening has to be the earliest possible, allowing a glass equipment preventing complications: amblyopia, strabismus. This screening allows the same time screening of organic anomalies and early treatment.
Age Factors↗
[2 years of hearing screening of high-risk infants and children in Martinique].
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Child, Preschool↗
[Acute adrenal insufficiency in the newborn].
Neonatal acute adrenal insufficiency is a rare condition. Congenital adrenal hyperplasia with 21-hydroxylase defect appears to be the most frequent cause, but the neonatal screening has improved its potential severe outcome. The other causes and the various clinical presentations have been exposed, with a special reference to the salt-wasting syndrome. Among them, the severity of X-linked adrenal hypoplasia congenita (AHC) deserves special attention. Two other causes of adrenal hypoplasia have been recently discovered, i.e. a mutation of the SF-1 gene and the syndrome IMAGe. Adrenal insufficiency secondary to ACTH deficiency is often unrecognised despite the risk of severe seizures and hypoglycaemia with brain damage. Finally, the hormonal diagnostic testing and the main therapeutic approach by corticosteroids have been indicated. The aim of this work is to focus the attention of paediatricians who examine a newborn because the risk of delayed diagnosis and fatal outcome may be limited if the clinical symptoms are soon recognized.
Acute Disease↗
Influence of hematocrit and localisation of punch in dried blood spots on levels of amino acids and acylcarnitines measured by tandem mass spectrometry.
BACKGROUND: Detection of amino acids (AA), acylcarnitines (AC), and guanidinoacetate (GAA) in dried blood spots by tandem mass spectrometry has made it possible to detect different inborn errors of metabolism in neonatal screening programs. Despite its proven sensitivity many issues related to sample preparation remain unsolved. Hematocrit has a profound effect on blood viscosity, and may thereby influence flux and diffusion properties of the blood. As newborn infants show a considerable interindividual variability of hematocrit levels, we investigated its effect on levels of AA and AC in dried blood spots. METHODS: Blood samples with defined hematocrit levels (20%, 30%, 40%, 50%, 60%) were produced by diluting blood cells with plasma from a single donor. Forty dried blood spots were made for each hematocrit level and a central as well as a peripheral 3 mm disk was punched and analysed for AA, AC, and GAA, respectively. RESULTS: Levels of most AA and GAA increased significantly with increasing hematocrit (p<0.001), while the effect of hematocrit on some AA was less pronounced. Total AC, free carnitine, some long, medium and short chain AC correlated positively with hematocrit levels (p<0.001). In samples with low hematocrit, levels of most AA and free carnitine were higher in the peripheral than in the central disk (p<0.0001). CONCLUSIONS: Both hematocrit and position of the disk within the dried blood spot have a significant and sometimes additive effect on levels of AA, AC and GAA in dried blood spots. Theoretically, diagnoses may be missed depending on hematocrit and position of the disk.
Amino Acids↗
Serum levels of neural protein S-100B in phenylketonuria.
BACKGROUND: Serum neural protein S-100B concentration is considered as a marker of CNS lesions. Phenylketonuria (PKU) is a metabolic disorder characterized by high phenylalanine (Phe) levels in blood and foci of myelin absence in the CNS of untreated patients. AIM: To evaluate S-100B blood levels in PKU patients. METHODS: Twenty-five (N = 25) PKU patients of comparable age, who were diagnosed by neonatal screening and "followed up" in our Inborn Error of Metabolism Department, were divided into two groups: group A (N = 13) with almost normal Phe levels and group B (N = 12) "off diet" with high Phe concentrations. Their MRI examinations were normal 12-14 months before the beginning of the study. Twenty-three (N = 23) healthy children were the controls. Serum S-100B levels, measured with an immunoluminometric assay, were greatly elevated in the group B (0.48 +/- 0.6 microg/l) as compared to those of group A (0.16 +/- 0.4 microg/l, P < 0.001) and controls (0.10 +/- 0.02, P < 0.001). Positive correlation was found between S-100B and Phe blood concentration (r = 0.46, P < 0.01). Foci of myelin absence in MRIs were observed in 1/13 of group A and in 10/12 of group B at the end of this study. CONCLUSIONS: (a) Serum S-100B protein level, for the first time evaluated in PKU, was positively correlated with Phe blood level in PKU patients. (b) S-100B blood estimation could be a useful peripheral marker of CNS lesions in patients with demyelinated disease such as PKU.
Biomarkers↗
Routine CMV screening during pregnancy.
Cytomegalovirus (CMV) screening during pregnancy has been widely discussed for several years, but still no consensus has been agreed. With a number of live births of 750,000 per year in France, we would expect 7500 infected infants at birth per year (rate of congenital infection of 1%). Among infected infants at birth, the number of severely infected foetuses would be approximately 75, the number of infants with severe sequelae would be 480, 675 approximately would present with hearing loss and the number of asymptomatic infants would be 6270. Five different preventive methods for congenital CMV infection are possible: (1) Routine CMV screening at the beginning of pregnancy for primary prevention. (2) Secondary prevention by antenatal diagnosis of congenital CMV infection complications. (3) Tertiary prevention by serological testing during pregnancy. (4) Tertiary prevention by serological screening at birth. (5) Tertiary prevention: Hearing loss screening at birth. The aims of this review are to define the advantages and disadvantages of these different methods of CMV screening during pregnancy and to determine if the current available information would make systematic testing acceptable.
Cytomegalovirus Infections↗
Increased serum estrogenic bioactivity in three male newborns with ambiguous genitalia: a potential consequence of prenatal exposure to environmental endocrine disruptors.
In the past 15 years, anomalies of male sexual differentiation have greatly increased in both wildlife and humans in different parts of the world. Environmental endocrine disruptors have been implicated in the dramatic rise in neonatal ambiguous genitalia with variable rates of severity, such as micropenis, cryptorchidism, and isolated or associated hypospadias. Because most environmental pollutants, such as organochlorine pesticides, polychlorinated biphenyls, dioxins and furans, alkylphenol polyetholyethoxylates, and phytoestrogens and phtalates, have estrogenic and antiandrogenic activity, they are able to interfere with normal fetal male sexual differentiation. In a neonatal screening program of ambiguous genitalia, we had the opportunity to evaluate three newborns with male pseudohermaphroditism (MPH) whose mothers were exposed to endocrine disruptors during pregnancy. All had normal testosterone production after human chorionic gonadotrophin stimulation testing, suggesting androgen resistance or so-called idiopathic MPH. Sequences of the 5alpha reductase and androgen receptor genes were normal. Since environmental pollutants are known for their estrogenic activity and can be released progressively from the adipose tissue where they accumulate, we detected their presence by measuring the estrogenic bioactivity of the newborns' serum with a recently developed ultrasensitive bioassay. We found higher estrogenic bioactivity in these newborns than in controls. In conclusion, the maternal exposure to environmental pollutants during pregnancy and high estrogenic bioactivity in the newborns' serum highly suggest that ambiguous genitalia are related to fetal exposure to endocrine disruptors.
Agriculture↗
A two-step scenario for hearing assessment with otoacoustic emissions at compensated middle ear pressure (in children 1-7 years old).
OBJECTIVE: Otoacoustic emissions (OAEs) are widely used for assessing congenital and early-acquired sensorineural hearing loss in young children. Middle ear pathology has a negative effect on the presence of OAEs. In this study we investigated whether measuring OAEs at compensated middle ear pressure (CMEP) resulted in a higher pass rate than at ambient pressure. Secondly, we analysed the influence of 12 different pass definitions on the pass rates. METHODS: One hundred and eleven children (age 1-7 years, mean 4 years and 5 months) were measured twice in one session: first at ambient pressure and then at CMEP. RESULTS: The study showed a higher pass rate of OAEs at CMEP than at ambient pressure. A two-step scenario reduced the number of fails by 18-26%, depending on the pass/fail definition used. CONCLUSION: Measuring OAEs at CMEP results in higher pass rates. Secondly, pass/fail definitions have a large influence on pass rates and this issue deserves further attention. Further studies must be done, before this method is readily applicable to universal neonatal screening.
Acoustic Impedance Tests↗
Control of a cluster of community-associated, methicillin-resistant Staphylococcus aureus in neonatology.
To control an outbreak of community-associated MRSA (CA-MRSA) in a neonatology unit, an investigation was conducted that involved screening neonates and parents, molecular analysis of MRSA isolates and long-term follow-up of cases. During a two-month period in the summer of 2000, Panton-Valentine leukocidin (PVL)-producing CA-MRSA (strain ST5-MRSA-IV) was detected in five neonates. The mother of the index caseshowed signs of mastitis and wound infection and consequently tested positive for CA-MRSA. A small cluster of endemic, PVL-negative MRSA strains (ST228-MRSA-I) occurred in parallel. Enhanced hygiene measures, barrier precautions, topical decolonization of carriers, and cohorting of new admissions terminated the outbreak. Four months after the outbreak, the mother of another neonate developed furunculosis with the epidemic CA-MRSA strain. One infant had persistent CA-MRSA carriage resulting in skin infection in a sibling four years after the outbreak. In conclusion, an epidemic CA-MRSA strain was introduced by the mother of the index case. This spread among neonates and was subsequently transmitted to another mother and a sibling. This is the first report of a successfully controlled neonatology outbreak of genetically distinct PVL-producing CA-MRSA in Europe.
Adult↗
Incidence and development of trigger thumb in children.
PURPOSE: Whether trigger thumb is congenital or acquired remains controversial. The purpose of this study was to identify whether trigger thumb is present at birth and to clarify whether trigger thumb represents a developmental condition. METHODS: We examined 1,116 babies born at Yamagata Prefectural Nihonkai Hospital within 14 days after birth. All patients were examined by the author (N.K.), a hand surgeon. Patients were followed up to determine whether trigger thumb would present later even though it was not present at birth. We informed parents about the development of trigger thumb by providing informational sheets for neonatal screenings after hospital discharge. They were asked to check their child for a year or more to see if any flexion deformity of the interphalangeal joint of the thumb occurred. After discharge from the hospital, the family was responsible for noticing trigger thumb in their infant and seeking medical treatment. RESULTS: Trigger thumb was not identified in any patient at birth. Responses were obtained from 601 families. Trigger thumb manifested in 2 thumbs of 2 children in the screening group at 8 and 11 months after birth; however, 3 additional children developed trigger thumb at 15, 21, and 30 months of age. CONCLUSIONS: The incidence of acquired trigger thumb in children 1 year of age was 3.3 per 1,000 live births. It is unlikely that this study identified all cases of trigger thumb in patients older than 1 year in the primary screening group. The results of this follow-up study, however, suggest that trigger thumb is not present at birth but develops with postnatal growth.
Child, Preschool↗
Childhood acute lymphoblastic leukemia is triggered by the introduction of immunization against diphtheria.
BACKGROUND: Childhood acute lymphoblastic leukemia has prenatal origin. Leukemogenic translocations originating during fetal life are insufficient for overt leukemia. Transgenic TEL-AML1 mice have failed to develop leukemia. Additional postnatal events are required for full leukemogenesis. The significant peak-age (2-5 years) first appeared after 1940 in Great Britain. Since then, childhood leukemia has almost unchangeable incidence. In 1940 the introduction of immunization against diphtheria on a national scale was begun in Great Britain. HYPOTHESIS: Childhood acute lymphoblastic leukemia is triggered by vaccination against diphtheria. TESTING THE HYPOTHESIS: Epidemiological survey for leukemia cases among "exemptors" and unvaccinated cases among ALL children should be done. Simultaneously, the transgenic TEL-AML1 mice should be vaccinated with the diphtheritic toxoid. IMPLICATIONS OF THE HYPOTHESIS: If there is no leukemia among the "exemptors", no unvaccinated among ALL, and some mice develop leukemia upon vaccination childhood leukemia will be prevented by massive neonatal screening for leukemogenic genetics and/or with a new vaccination schedule.
Animals↗
Utilization of well-baby care visits provided by Taiwan's National Health Insurance Program.
In April of 1995, Taiwan's National Health Insurance Program started providing each eligible child a total of six well-baby care visits. The first four are for infancy, the fifth is for the second and the third years of life, and the sixth is for the fourth year. These services are in addition to neonatal screening and a series of primary immunizations that have been publicly financed and utilized conventionally for years. The purposes of this study were to investigate the utilization level of these well-baby care visits, and explore relevant factors. The results reveal that 36% of eligible children did not use any of the first four visits, 58% did not utilize the fifth, and 82% did not use the sixth in the late 1990s. It appears that the take-up of these services is much less than satisfactory. Maternal awareness of and attitudes toward the services appeared to be the most important factors influencing utilization. These two factors not only were most influential, but also significantly contributed to disparities in utilization among different regions and types of residential districts. As a result, they should be the focus of interventions for advancing well-baby care. While these two factors are at the individual level, they are not independent from the health care system because the health care system has impacts on individual factors. Since physicians can serve as a good vehicle for teaching parents about relevant information and correct attitudes, and most physicians in Taiwan complained about the payment scheme, offering stronger incentives for physicians to promote such services might be helpful for achieving a high utilization level of well-baby care.
Attitude↗
Monocular chromatic contrast threshold and achromatic contrast sensitivity in children born prematurely.
PURPOSE: To study the effect of prematurity on monocular chromatic contrast thresholds (CCT) and achromatic contrast sensitivity (ACS). DESIGN: Case-control study. METHODS: A prospective study of 59 children born at less than 33 weeks' gestation was undertaken. Subjects were identified during routine neonatal screening for retinopathy of prematurity and recalled for testing at age 7 to 13 years. Five had stage 1 retinopathy of prematurity, seven had stage 2, and three had stage 3. Sixty-eight full-term children were recruited as controls. Those with major cerebral or eye disease were excluded. The CCT and ACS were measured monocularly in the eye with better visual acuity using static, computer-generated, sinusoidal gratings, displayed on a high-resolution monitor. The CCT and ACS were determined using a randomized double-staircase reversal algorithm. The ACS was measured at five spatial frequencies (0.22, 0.44, 0.88, 1.75, and 3.50 cycles/degree), and the CCT was measured along red-green and tritan confusion axes. RESULTS: Red-green (P =.326) and tritan (P =.910) contrast thresholds and ACS (P >.394 for all spatial frequencies) were similar to the control group. CONCLUSIONS: Previous research suggests that prematurity adversely affects color vision and ACS. This study used a computerized psychophysical test that minimized the test errors inherent in many previous studies. Unexpectedly, CCT and ACS were found to be similar to full-term children.
Adolescent↗
Sensitivity of electrospray-tandem mass spectrometry using the phenylalanine/tyrosine-ratio for differential diagnosis of hyperphenylalaninemia in neonates.
The sensitivity of amino acid analysis by electrospray-tandem mass spectrometry (ESI-TMS) in differential diagnosis of the different forms of hyperphenylalaniemias (HPA) was studied in a total number of 78 dried blood samples from neonates with increased phenylalanine (Phe) concentrations (> 150 micromol/l). Simultaneous quantitative analysis of Phe and tyrosine (Tyr) were performed by ESI-TMS. By means of the Phe/Tyr-ratio it was possible to differentiate between phenylketonuria (PKU; n = 23) and nonPKU-HPA patients (n = 35; P < 0.001) with a sensitivity of 100%. Neonates with transient HPA (n = 9) showed a lower Phe/Tyr-ratio compared to the nonPKU-HPA patients (P < 0.001). Amino acid analysis by ESI-TMS represents a powerful diagnostic tool in differential diagnosis of HPA and is an appropriate technique in the setting of neonatal screening based on dried blood spots.
Diagnosis, Differential↗