Recommendations of the European Thyroid Association for mass screening for neonatal hypothyroidism.
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Europe↗
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Results for “Neonatal Screening”
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Intellectual outcome at 12 years of age in congenital hypothyroidism.
BACKGROUND: The intellectual outcome in children with congenital hypothyroidism detected by neonatal screening is generally good; however, subtle neurological dysfunctions, subnormal IQ, or both, have been reported. OBJECTIVE: To evaluate the intellectual outcome in 12-year-old patients with congenital hypothyroidism, detected by neonatal screening, in an attempt to identify factors that may affect intellectual development. METHODS: The intelligence quotient (IQ) of 40 children with congenital hypothyroidism was evaluated at 12 years of age, using the Wechsler Intelligence Scale for Children -- Revised, and compared with the IQ of 40 healthy siblings (control group). RESULTS: The mean IQ score (88.4+/-13.1) was not significantly different from that of the control group (93.4+/-10.7). Thirteen patients showed subnormal IQ score (72.4+/-4.9) compared with their siblings (86.7+/-9.6; P<0.0001) and with the other patients (96.1+/-9.6; P<0.0001). The low IQ score was associated with lower serum concentrations of thyroxine at diagnosis, poor treatment compliance during follow-up and lower familial IQ. Interviews with parents of children with congenital hypothyroidism revealed that a refusal to acknowledge the disease was linked to poor attention to the child's emotional life and to poor treatment compliance in some cases (11%). CONCLUSION: Even though the mean IQ score in patients with congenital hypothyroidism falls within normal for the control population, low IQ scores may be present in patients with severe hypothyroidism, inadequate compliance to replacement therapy during follow-up and poor parental pedagogic attitude.
Adaptation, Psychological↗
Auditory development and hearing evaluation in children.
This chapter provides an overview of (1) developmental timetables relevant to hearing, and (2) current pediatric audiological techniques and practices. Structural and functional development of the auditory pathway and the development of primary auditory processing are summarized. These developmental sequences appear to follow similar paths in humans and animals. Speech and music perception involve more complex processing and are strongly influenced by experience. Hearing disorders affect the perception of complex sounds in a variety of ways, depending on the sites of lesions. Early-onset hearing impairment, including conductive loss from chronic otitis media, can seriously impede language development. Language cannot develop normally without adequate speech stimulation, and deafness is more prevalent than any other handicapping condition for which mandated neonatal screening programs exist. Sensitive and inexpensive techniques are available for performing neonatal hearing screening, and early intervention has a documented positive effect on development of language skills in hearing-impaired children. Thus, the National Institutes of Health has recommended nationwide universal neonatal hearing screening. The rationale for and the methodology of universal screening programs are summarized. Advances in the genetics of hearing impairment are reviewed. Data from these studies have influenced testing and rehabilitative protocols and have implications for future prevention and treatment of hearing impairment.
Acoustic Impedance Tests↗
Validation of an ESI-MS/MS screening method for acylcarnitine profiling in urine specimens of neonates, children, adolescents and adults.
BACKGROUND: Acylcarnitine (AC) profiling in dried blood spots by means of electrospray ionisation tandem mass spectrometry (ESI-MS/MS) has proven to be a useful method in neonatal screening, able to detect inborn errors of fatty acid oxidation, amino acid, organic acid and carnitine metabolism. Furthermore, this method is becoming increasingly applied in selective screening and in prenatal and postmortal diagnostics of inborn metabolic disorders, where urine is commonly used as specimen of interest. We therefore developed and validated a butylation method of acylcarnitine profiling in urine by ESI-MS/MS without previous chromatographic separation. METHODS: Random urine specimens were used for investigation of the analytical imprecision of the method. Recovery, precision and linearity were determined using methanolic standard solutions of free carnitine, octanoylcarnitine and palmitoylcarnitine at various concentrations. RESULTS: The mean coefficients of variation of within-run and run-to-run analysis of these analytes were found between 10% and 20% and demonstrated that the method fulfills the analytical requirements within the relevant ranges of concentration. Creatinine-related and age-related reference values of free carnitine and the ACs (C2-C18) were established. The definite discrimination was possible between patients with fatty acid oxidation disorders, organic acidurias, and healthy controls. The AC profiles from patients with various specific disorders were diagnostically helpful during acute deterioration and even during conditions of well-compensated metabolic state. CONCLUSION: The method used in this study is suitable both for selective screening and for confirmation of diagnosis with the advantage of high-throughput quantitative measurement.
Adolescent↗
Universal maternal screening for neonatal group B streptococcal disease.
Group B streptococcal infection is a leading cause of neonatal morbidity and mortality in the developed world. Data obtained in our region suggest that the incidence in the UK may be higher than previously reported, and together with the results of a pilot study indicate that preventive strategies based on maternal risk factors alone would prevent less than half the cases of neonatal disease.
Anti-Bacterial Agents↗
Chromosome translocations in couples with in-vitro fertilization implantation failure.
Recurrent miscarriage is known to be associated with parental chromosomal abnormalities, particularly balanced reciprocal and Robertsonian translocations. The aim of this study was to test the hypothesis that couples with in-vitro fertilization (IVF) implantation failure, like those with recurrent miscarriage, have a higher than expected prevalence of translocations which may impact on pregnancy outcome. Patients who previously had at least 10 embryos transferred without achieving clinical pregnancy were evaluated for chromosome abnormalities as part of screening investigations for implantation failure. Recurrent miscarriage patients with a history of at least three consecutive first-trimester abortions were also tested. Results were compared to reports of infertility patients presenting for treatment and population neonatal screening programmes. Chromosomal abnormalities overall were detected in 13/514 individuals with implantation failure (2.5%), and 15/319 individuals with recurrent miscarriage (4. 7%). Translocations (reciprocal and Robertsonian) were found in 7/514 individuals (1.4%) and 7/219 couples (3.2%) with implantation failure (P < 0.0005 compared with infertile controls and P < 0.0001 compared with screened neonates). Translocations were found in 13/319 individuals (4.1%) and 12/130 couples (9.2%) with recurrent miscarriage. Balanced parental translocations may be implicated in the pathogenesis of IVF-implantation failure. Genetic evaluation should be considered as part of the investigation of these patients.
Adult↗
Hearing impairments and vestibular abnormalities among children with subclinical cytomegalovirus.
This paper strengthens the importance of neonatal screening in the early identification and etiological specification of hearing loss by demonstrating that subclinical cytomegalovirus (CMV) is the most common viral agent causing sensorineural hearing loss (SNHL) among pediatric patients. Consequently, if hearing impairment is found on neonatal screening, viral studies should be done at once. In addition to a survey of previous literature, these points are presented from a retrospective study of 14 children with SNHL caused by focal CMV. Moreover, vestibular studies are presented which suggest that hearing and vestibular impairments may operate independently of one another or conjointly in patients infected with CMV.
Adolescent↗
[The micro-ESR with the capillary tube inclined to 45 degrees in the "sepsis screen" of neonatal infection due to beta-hemolytic B-group Streptococcus].
The authors describe the advantages of a new method to determinate the erythrocyte sedimentation rate (micro-ESR) during neonatal GBS infections. They utilize a capillary tube placed at a 45 degrees angle and have the results of this test only after 15 minutes. The micro-ESR is proposed as a simple and quick method of sepsis screen in term and preterm newborns.
Blood Sedimentation↗
Cystic fibrosis carriers have higher neonatal immunoreactive trypsinogen values than non-carriers.
Following cystic fibrosis (CF) neonatal screening implementation, a high frequency of heterozygotes has been reported among neonates with elevated immunoreactive trypsinogen (IRT) and normal sweat chloride levels. We studied the relationship between normal IRT values and CF heterozygosity: 10,000 neonates were screened for CF by IRT measurement and tested for 40 CF mutations; the 294 carriers detected were coupled with newborns negative to the same genetic testing, and the two groups' IRT levels compared. Heterozygotes had higher IRT levels than their controls (mean 35.32 vs. 27.58 microg/L, P<0.001). Even within normal trypsinogen range, the probability of being a CF carrier increases with neonatal IRT concentration.
Cystic Fibrosis↗
Late developmental dislocation of the hip after initial normal evaluation: a report of five cases.
Developmental dysplasia of the hip (DDH) denotes a wide spectrum of pathologies ranging from hip instability to frank dislocation. The current understanding is that cases of late diagnosis were missed during the newborn period. However, there is some evidence that a number of hip subluxations or dislocations may have been clinically stable in the neonatal period, but dislocate late. We present 5 cases of otherwise healthy children with normal physical examinations and hip radiographs in the first 3 months of life who later developed hip dislocations. Four of the 5 cases required surgical open reduction. In light of these cases and others in the literature, normal neonatal screening for DDH does not assure that continued normal development of the hip joint will happen. Our study confirms the existence of another entity in the wide spectrum of DDH: the late hip dislocation. Therefore, hip evaluations should be continued beyond the neonatal period until the child begins to walk. Parents should be informed that hip dislocation can occur in a late form, and they should be encouraged to take their children for repeated evaluations even if the neonatal screening is normal.
Age Factors↗
The use of automated HPLC to detect and quantitate haemoglobins.
The introduction of automation for haemoglobinopathy screening is an important advance in technology for haematology laboratories. This paper evaluates the utility of an automated HPLC instrument, the Bio-Rad 'Variant' for the detection and quantitation of the normal haemoglobins (Hb A, A2 and F) and the common abnormal haemoglobins (Hb S, C, DPunjab, E, OArab and Lepore) which need to be evaluated in laboratories undertaking carrier and/or neonatal screening for sickle cell and thalassaemia. The instrument only uses a small amount of whole blood (5 microliters), a 3 mm disc from a Guthrie spot may also be used for analysis of samples from neonates. It uses a 100 place automatic sampler with a cycle time of 6.5 min for adult samples (using the 'Beta Thalassaemia Short' reagent pack) and 3 min for neonatal samples. The automatic sampler also allows samples to be analysed 'out of hours'. A 'STAT'; position allows urgent samples to be analysed before, or during, a routine analytical run. All reagents, other consumables and application notes are provided by the suppliers. Other types of reagent packs, such as the 'Sickle Cell Short' for neonatal screening were not assessed during this study.
Adult↗
Phenylketonuria screening registry as a resource for population genetic studies.
BACKGROUND: Neonatal screening for metabolic diseases, involving samples stored on filter paper (Guthrie spots), provides a potential resource for genetic epidemiological studies. OBJECTIVE: To develop a method to make these dried blood spots available for large scale genetic epidemiology. METHODS: DNA from untraceable Guthrie spots was extracted using a saponin and chelex-100 based method and preamplified by improved primer preamplification. Analyses were done on 38 samples each of fresh, 10, and 25 year old Guthrie spots and the success rate determined for PCR amplification for five amplicon lengths. RESULTS: The method was applicable even on 25 year old samples. The success rate was 100% for 100 bp amplicons and 80% for 396 bp amplicons. Ninety four Guthrie samples were genotyped, including carriers of two different PKU mutations; all carriers were found (six R158Q, four R252W), with no false positives. Finally, 2132 anonymous samples from the Swedish PKU registry were extracted and preamplified and the allele frequencies of APOepsilon4, PPARgamma Pro12Ala, and the CCR5 32 bp deletion determined. Local variations in allele frequencies suggested subpopulation structuring. There was a significant difference (p<0.01) in regional allele frequencies for the CCR5 32 bp deletion in the Swedish population. CONCLUSION: Whole genome amplification makes it feasible to conduct large genetic epidemiological studies using PKU screening registries.
Alleles↗
Screening for neonatal alloimmune thrombocytopenia: an economic perspective.
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Antigen-Antibody Reactions↗
[Neonatal ultrasonic screening and follow up of urinary tract malformations].
1881 consecutive healthy newborn babies underwent abdominal ultrasonography on day 4-6. 228 subjects presented an echographic abnormality. Renal abnormalities were diagnosed in 213 newborn. Of those, 134 had dilatative uropathy with a pelvic diameter greater than 5 mm, 73 renal medulla hyperechogenicity, 3 ectopics, 2 unilateral renal agenesis and one horseshoe kidney. Extrarenal findings were present in 15 neonates: 11 with surrenal gland haemorrhage and 4 with hepatic ultrasonographic alterations. Grignon classification was used for evaluation of the dilatative urinary tract abnormalities. In 173 renal pelvis (134 neonates) the anteroposterior diameter was found > 5 mm: 97 were classified as GI (5-10 mm), 45 as GII (10-15 mm), 13 as GIII ( > 15 mm), 11 as GIV (moderate dilatation of the calyces with easily identified residual renal cortex) and 7 as GV (severe dilatation of the calyces with atrophic cortex). The follow-up of 72.3% of these abnormalities showed a spontaneous normalization in 90% of GI, 73% of GII and 58% of GIII. Only one patient with GIII demonstrated progressive dilatation and he underwent corrective surgery. 15 of the 17 newborn with severe uropathy (GIV-GV), had regular follow-up. 8 underwent surgery and 7 showed a progressive spontaneous recovery and in 4 of these cases a complete resolution. The ultrasound follow-up of all cases of renal medulla hyperechogenicity and surrenal gland haemorrhage shows a spontaneous resolution without any clinical or biochemical complication.
Congenital Abnormalities↗
Ultrasound in screening for neonatal adrenal hemorrhage.
Neonatal adrenal hemorrhage is common. Relatively large size and extensive vascularity of the gland results in its vulnerability to trauma and traumatic asphyxial injuries. The reported incidence from necropsies is 1.7 per 1000 births. Ultrasound scans were performed on each of 8374 consecutive newborns delivered throughout 48 months ending December 31, 1993, in the Department of Obstetrics and Gynaecology. During our screening, 16 cases of adrenal hemorrhage (10 males and 6 females) were noted at an incidence of 1.9 per 1000. All of the cases of adrenal hemorrhages remained intracapsular with spontaneous resolution. Thirteen cases were right sided, two cases were left sided, and one case was bilateral. None required surgical exploration. Neonatal treatment included further phototherapy in 12 cases, blood transfusions in five cases, and antibiotics in three cases. Signs of transient adrenocortical insufficiency were observed in one child.
Adrenal Gland Diseases↗
Alpha thalassemia screening in neonates by mean corpuscular volume and mean corpuscular hemoglobin determination.
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Blood Cell Count↗
Avoidable late diagnosis of significant sensorineural hearing loss: implications for practice.
The records for all children from a five-year birth cohort in the geographically defined area of Lothian who were referred by their health visitor to a centralized second tier audiology service after they failed their 7-9 month infant distraction hearing screen were reviewed. The sensitivities, specificities, positive predictive values and yield of this screen for the detection of significant sensorineural hearing loss > or =40 dBA requiring aiding and for a conductive loss persisting beyond one month over 30 dBA were determined. In addition, the records were studied for the same five-year birth cohort for children presenting to the centralized multidisciplinary third tier clinic with a significant sensorineural hearing loss requiring aiding, and the reasons for late diagnosis were determined. If high risk neonatal screening had been available for this population then potentially 67.5% (27 out of 40) of cases could have been identified by an appropriate age. Elimination of health visitor distraction screen false negatives for cases with loses over 60 dBA would potentially increase the case identification by the appropriate age to 45% (1 8 out of 40). Thus, there is greater scope for improving our present results with the introduction of high risk neonatal screening than by improvements in the health visitor screen.
Age Factors↗
Outcome of severe congenital hypothyroidism: closing the developmental gap with early high dose levothyroxine treatment.
We have previously reported that despite neonatal screening, children with severe congenital hypothyroidism treated at 5 weeks of age with 6 micrograms/kg.day levothyroxine have clinically significant intellectual impairment, whereas those with the moderate form of the disease are indistinguishable from controls. The developmental outcome of children with severe congenital hypothyroidism treated earlier with higher initial doses of levothyroxine remained to be determined. In the present study, 45 infants with permanent congenital hypothyroidism detected by neonatal screening are described. For the group, the median age at starting treatment was 14 days, and the median initial dose of levothyroxine was 11.6 micrograms/kg.day. Based on the area of their knee epiphyses at diagnosis, the patients were divided into 2 subgroups: severe (< 0.05 cm2; n = 10) and moderate (> or = 0.05 cm2; n = 35). The psychomotor development of 8 patients in each subgroup, matched for the socioeducational level of their families, was assessed at 18 months. Mean plasma free T4 levels were supraphysiological during the first few months of life, but mean plasma T3 levels remained within the normal range, and there were no signs or symptoms of hyperthyroidism. The mean plasma TSH concentration was less than 4.5 mIU/L 4 weeks after starting treatment. Bone maturation remained delayed at 12 months in the severe cases and was not unduly advanced in the moderate cases. The mean (+/- SD) developmental quotients at 18 months were similar in severe and moderate cases (107 +/- 10 and 110 +/- 5, respectively). We conclude that with earlier treatment and a higher initial dose of levothyroxine, the early developmental outcome of infants with severe congenital hypothyroidism is now indistinguishable from that of infants with the moderate form of the disease who were used as controls.
Child Development↗