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PubMed1996

Incidence of intracranial bruits in neonates.

Although standard texts state that intracranial bruits are common in childhood, experience suggests they are uncommon in neonates. This study investigated the incidence of intracranial bruits in 1,000 consecutive neonates. Only one bruit was heard, which was due to a transmitted cardiac murmur. Uncommon physical findings require caution in deciding whether to immediately consider it a benign finding, or to pursue additional evaluation with noninvasive imaging. We suggest that listening for intracranial bruits in neonates may be an important addition to the standard neonatal screening examination. Further study to determine if pathologic bruits can be detected in the presymptomatic state is needed.

Auscultation↗

PubMed1994

Relation between biochemical severity and intelligence in early treated congenital hypothyroidism: a threshold effect.

OBJECTIVES: To assess whether early treatment of congenital hypothyroidism fully prevents intellectual impairment. DESIGN: A national register of children with congenital hypothyroidism who were compared with unaffected children from the same school classes and matched for age, sex, social class, and first language. SETTING: First three years (1982-4) of a neonatal screening programme in England, Wales, and Northern Ireland. SUBJECTS: 361 children with congenital hypothyroidism given early treatment and 315 control children. MAIN OUTCOME MEASURES: Intelligence quotient (IQ) measured at school entry at 5 years of age with the Wechsler preschool and primary scale of intelligence. RESULTS: There was a discontinuous relation between IQ and plasma thyroxine concentration at diagnosis, with a threshold at 42.8 nmol/l (95% confidence interval 35.2 to 47.1 nmol/l). Hypothyroid children with thyroxine values below 42.8 nmol/l had a mean IQ 10.3 points (6.9 to 13.7 points) lower than those with higher values and than controls. None of the measures of quality of treatment (age at start of treatment (range 1-173 days), average thyroxine dose (12-76 micrograms in the first year), average thyroxine concentration during treatment (79-234 nmol/l in the first year), and thyroxine concentration less than 103 nmol/l at least once during the first year) influenced IQ at age 5. CONCLUSIONS: Despite early treatment in congenital hypothyroidism the disease severity has a threshold effect on brain development, probably determined prenatally. The 55% of infants with more severe disease continue to show clinically significant intellectual impairment; infants with milder disease show no such impairment. The findings predict that 10% of early treated infants with severe hypothyroidism, compared with around 40% of those who presented with symptoms in the period before screening began, are likely to require special education.

Child, Preschool↗

PubMed2002

Management of congenital adrenal hyperplasia: results of the ESPE questionnaire.

The management of children and adolescents with congenital adrenal hyperplasia (CAH) remains difficult. To assess the current European practice in diagnosis and management of CAH, an ESPE (European Society for Paediatric Endocrinology) survey was circulated in 2000/2001. The questionnaire was answered by 34% of ESPE members, representing 125 institutions which cared for 6,553 CAH patients. Paediatric endocrinologists, surgeons, gynaecologists, geneticists, and psychologists are involved in the immediate care of the CAH neonate and his family. 44% of centres take part in neonatal screening programmes. In families at risk, prenatal dexamethasone therapy is started at a median gestational age of 6 weeks in a median dose of 20 microg/kg/day. 53% reported maternal adverse events, 8% observed adverse fetal events. Regarding feminizing surgery, 33% reported simultaneous clitoric reduction and vaginoplasty during infancy. However, clitoridectomy is still reported by 13% of centres, and vaginal dilatations have been performed by 27%. Although 71% of female CAH patients with psychosexual problems, only 17% undertake routine psychodiagnostics and counselling. Hydrocortisone is the substance used for the treatment of CAH during growth in 84%; the median dose (mg/m(2)/day) is 17.5 in infants, 15 in children and adolescents, and 13.75 in adults. The glucocorticoid dose is increased two- to sixfold during intercurrent stress. Mineralocorticoid is administered in cases of clinically manifest salt wasting and of elevated plasma renin activity, to decrease high glucocorticoid doses, or according to genotype. All participating ESPE members feel the need for further improvement in prenatal diagnosis and treatment, compliance during puberty, screening programmes, psychological aspects, and corrective surgery.

Adolescent↗

PubMed2005

The expanding role of mass spectrometry in metabolite profiling and characterization.

Mass spectrometry has a strong history in drug-metabolite analysis and has recently emerged as the foremost technology in endogenous metabolite research. The advantages of mass spectrometry include a wide dynamic range, the ability to observe a diverse number of molecular species, and reproducible quantitative analysis. These attributes are important in addressing the issue of metabolite profiling, as the dynamic range easily exceeds nine orders of magnitude in biofluids, and the diversity of species ranges from simple amino acids to lipids to complex carbohydrates. The goals of the application of mass spectrometry range from basic biochemistry to clinical biomarker discovery with challenges in generating a comprehensive profile, data analysis, and structurally characterizing physiologically important metabolites. The precedent for this work has already been set in neonatal screening, as blood samples from millions of neonates are tested routinely by mass spectrometry as a diagnostic tool for inborn errors of metabolism. In this review, we will discuss the background from which contemporary metabolite research emerged, the techniques involved in this exciting area, and the current and future applications of this field.

Biomarkers↗

PubMed1997

Transcutaneous bilirubinometry: its role in the assessment of neonatal jaundice.

OBJECTIVE: To review the literature on transcutaneous bilirubinometry so that its exact role in the prevention of kernicterus or bilirubin encephalopathy could be determined. DESIGN AND METHODS: Literature searches were done in Medline and Current Contents. RESULTS: It is estimated that about 50% of newborns have an episode of jaundice in the first few days of life. Six percent of newborns may develop hyperbilirubinemia (> 220 mumol/L), which can potentially cause bilirubin encephalopathy or kernicterus, a severe neonatal disease. In the past, serum bilirubin (SB) has been the preferred method of detecting hyperbilirubinemia in newborns. The ordering of SB in neonates is based on visual evaluation by either physicians or nursing staff. Skin puncture collection of blood exposes the neonate to trauma and risk of infection. A noninvasive device for predicting serum bilirubin levels in newborns diminishes the need to do skin punctures. One such device that has been very extensively studied is the Minolta AirShields Jaundice Meter. It is a portable light-weight instrument that uses reflectance measurements on the skin to determine the amount of yellow color present in the skin, namely transcutaneous bilirubin (TcB). Although the TcB measurements correlate well with serum bilirubin (SB) levels, they cannot accurately predict serum bilirubin because of error related to a variety of factors. CONCLUSIONS: TcB cannot be used directly to make decisions about transfusions or phototherapy in neonates. It is a good tool for screening neonates to determine when a laboratory measurement of serum bilirubin is needed. Such a practice requires careful selection of the decision level so that false-negative TcB values do not prevent appropriate serum bilirubin tests from being done.

Bilirubin↗

PubMed1989

Staffing and structure for paediatric audiology services in hospital and community units.

The component functions of a paediatric audiology service are outlined on the basis of the main broad categories of patient and their requirements, as seen from a 'good practice' standpoint; a service structure is offered in terms of patient flow. This leads to a distinction between the small, specifically medical requirement, and the large, specifically audiological testing requirement. Indications are given of the scale of audiology requiring to be done by community staff not specializing in audiology. Notional incidence figures (and acceptable screen failure rates) allow the number of audiological posts or sessions required for screening and related community paediatric audiology work to be estimated per million population served. This totals about 9.75 FTE professional posts of varying grades per million population plus 1.5 FTE support, but in nearly all circumstances there will be many more incumbents than this, each with diverse other duties. The recommended staffing of audiologists doing hospital-based assessment and rehabilitation work and requiring specialized audiology training totals about 7.0 full-time equivalent (FTE) audiology posts and 2.5 support posts in a hospital paediatric audiology department, per million population; this is above the currently prevailing level of provision. The resource requirements would be raised by the widespread introduction of a non-standard screen (other than for the standard 6 to 9 month screen and the school-entry screen) by about 40% for community services and 15% for consequential increases in hospital services. In hospital units, the staffing will usually be interleaved with that of adult audiology, even where the served population may be large enough (e.g. 0.5 million, three to four paediatric audiology staff) to make a separate section worthwhile. In community units, there does not appear to be a particularly good rationale for community doctors specializing full-time in audiology, although some medical staff time is needed to undertake the specifically medical components. A partial degree of specialization among health visitors (or at least greater audiological training and experience) would probably achieve better performance of screens and simplify the attainment and maintenance of testing standards. Activities in hospital and community units have strong mutual implications: adding an intermediate-age screen to the established first-year and school-entry screens, and adding an at-risk neonatal screen would together increase consequent demands upon hospital paediatric audiology about 35%, although in neither case would the screening activity itself be undertaken in the hospital audiology unit.(ABSTRACT TRUNCATED AT 400 WORDS)

Audiology↗

PubMed1992

[Liver diseases in children with alpha 1-antitrypsin deficiency in infancy].

The authors evaluate the health status of children with alpha-1-antitrypsin deficiency, focused on liver disease in infant age. The children were selected by neonatal screening. Of 21 children one had severe neonatal hepatitis with progression to cirrhosis, 2 children had clinically apparent jaundice to the age of two months, 6 children had elevated total bilirubin and transaminase levels without clinical signs of the disease, 12 of the remaining children had no clinical and laboratory signs of liver disease. In the discussion the authors compare the results with data published abroad.

Female↗

PubMed1989

Newborn screening for galactosemia: a new method used in Manitoba.

In July 1983, the Manitoba Perinatal Screening Programme modified its existing procedure for neonatal screening for galactosemia by introducing quantitation of total galactose plus galactose-1-phosphate from dried blood spots using the Multistat centrifugal analyzer. The first 4 years of experience with this method in combination with the Beutler spot test for galactose-1-phosphate uridyl transferase activity is the subject of this report. Of 70,336 newborns screened, 142 (0.20%) met the criteria for clinical follow up. Of these, one child was confirmed to have classical galactosemia and nine children were found to be Duarte/galactosemia genetic compounds. This method of galactosemia screening has proven to be rapid, sensitive, efficient, and the method of choice for mass screening of disorders of galactose metabolism.

Galactose↗

PubMed1996

Ultrasonographic evaluation of breech presentation as a risk factor for hip dysplasia.

In order to gain more information of breech position as a risk factor for congenital hip dysplasia or dislocation, the hips of 408 newborns delivered in the breech position were examined by ultrasound. Clinical examination was performed by both experienced paediatricians and orthopaedic surgeons. The infants were re-examined by ultrasound at 2-3 months of age. Twenty-five newborns (6.1%) had neonatal hip instability. Breech presentation as a risk factor was confirmed, with first borns, breech position with extended knees, and high birthweight as special high-risk groups. Ultrasound showed subluxation in most of the unstable hips. The main benefit of using ultrasound was that direct visualization permitted more reliable evaluation, especially when the clinical findings were uncertain. Normal ultrasound findings in false positive and uncertain Ortolani tests reduced the frequency of unnecessary treatment. Because ultrasound was used in follow-up, the need of radiography was reduced. There were no late-detected cases of hip dysplasia or dislocation, indicating that routine follow-up is not necessary in breech infants with normal hips at birth, provided that the neonatal screening is optimal.

Birth Weight↗

PubMed2003

Evidence based guidelines for the performance of the sweat test for the investigation of cystic fibrosis in the UK.

A well produced evidence based guideline has been developed in response to a national audit that demonstrated wide variations in the performance of sweat tests. Accurate and reliable sweat test results will be particularly important with the advent of neonatal screening. The guideline recommendations include the collection and analysis of sweat samples, and interpretation of results. It emphasises the importance of sweat chloride as the best discriminator.

Chlorides↗

PubMed1999

Biotinidase deficiency: a treatable genetic disorder in the Saudi population.

Biotinidase deficiency is an autosomal recessive genetic disorder which is not uncommon in the Saudi population. Biotinidase is responsible for biotin recycling and biotin is an essential cofactor for activation of the carboxylase enzymes. Absence of biotinidase leads to infantile or early childhood encephalopathy, seizure disorder, dermatitis, alopecia, neural deafness and optic atrophy. The disease can be diagnosed by simple fluorometric enzyme assay. Treatment with biotin is both cheap and simple, resulting in rewarding clinical recovery and normalization of the biochemical, neuroradiological and neurophysiological parameters. If neglected, however, a patient may die of acute metabolic acidosis or may suffer from permanent neural deafness and optic atrophy, with mental and motor handicap. We describe the detection and treatment of 20 cases of biotinidase deficiency in our hospital and recommend the introduction of a neonatal screening programme for this disorder.

Amidohydrolases↗

PubMedDate not supplied

Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Congenital adrenal hyperplasias (CAH) are inherited defects of cortisol biosynthesis. More than 90% of CAH are caused by 21-hydroxylase deficiency (21-OHD), found in 1:10 000 to 1:15 000 live births. Females with 'classical' 21-OHD, being exposed to excess androgens prenatally, are born with virilized external genitalia. Potentially lethal adrenal insufficiency is characteristic of two-thirds to three-quarters of patients with the classical salt wasting (SW) form of 21-OHD. Non-SW 21-OHD may be diagnosed on genital ambiguity in affected females, and/or later on the occurrence of androgen excess in both sexes. Non-classical 21-OHD, detected in > or =1:100 of certain populations, may present as precocious pubarche in children or polycystic ovarian syndrome in young women. 21-OHD is caused by mutations in the CYP21 gene encoding the steroid 21-hydroxylase enzyme. More than 90% of these mutations result from intergenic recombination between CYP21 and the closely linked CYP21P pseudogene. The degree to which each mutation compromises enzymatic activity is strongly correlated with the clinical severity of the disorder. This close association between genotype and phenotype makes it possible to predict clinical outcome in affected subjects. The risk of SW and prenatal virilization can be estimated, and overtreatment can be avoided in mildly affected cases. Glucocorticoid and mineralocorticoid replacement therapies are the mainstays of treatment, but additional therapies are being developed. A first trimester prenatal diagnosis should be proposed in families in whom molecular studies have been performed previously. The state of heterozygotism can be predicted by hormonal testing and confirmed by molecular studies. Prenatal diagnosis by direct mutation detection in previously genotyped families permits prenatal treatment of affected females in order to avoid or minimize genital virilization. Neonatal screening by hormonal methods identifies affected children before SW crises develop, reducing mortality in this disorder.

Adrenal Hyperplasia, Congenital↗

PubMed1999

Identification of permanent hearing loss in children: are the targets for outcome measures attainable?

A collaborative nine-centre study was designed to follow the routes to identification of all children up to the age of seven years newly diagnosed with permanent hearing impairment (> or = 50 dB HL) during the period 1993-1994. Ages of identification were compared with the standards set by the National Deaf Children's Society (NDCS), ascertaining whether these targets could be achieved with current service provision. Of the 126 children identified, 104 had congenital sensorineural hearing loss: 19% were identified by the age of six months and 39% by their first year. These results fall short of the NDCS targets of 40% and 80%, respectively, and point to the need for modifications of current practice, such as the introduction of universal neonatal screening.

Audiometry, Pure-Tone↗

PubMed1998

Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild phenylketonuria. Mutations in brief no. 143. Online.

PKU is one of the commonest genetic disease in man, affecting 1/10,000 individuals. It presents a wide phenotypical spectrum, from classic PKU to moderate Hyperpheylalaninemia depending on the residual enzymatic activity. Two novel mutations 1163/1164delTG and P362T in exon 11 have been detected during the mutational screening of the PAH gene in 84 families. 1163/1164delTC can be confused with V388M if the mutational screening is performed with BsaAI restriction enzyme, this mutation in heterozigosis presents a moderate phenotype. P362T mutation in heterozigosis with V388M shows a classical PKU phenotype. We report here two new mutations in exon 11 of the PAH gene (GenBank U49897), V1163delTG and P362T (using cDNA sequence), detected during the analysis of 57 PKU and 36 HPA patients belonging to 84 unrelated families detected under a neonatal screening program performed in Catalonia.

DNA Mutational Analysis↗

PubMed1999

Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis.

BACKGROUND: Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inborn error of fatty acid metabolism. Undiagnosed, it has a mortality rate of 20-25%. Neonatal screening for the disorder is now possible but it is not known whether this would alter the prognosis. OBJECTIVE: To investigate the outcome of MCAD deficiency after the diagnosis has been established. METHOD: All patients with a proved diagnosis of MCAD deficiency attending one centre in a four year period were reviewed. RESULTS: Forty one patients were identified. Follow up was for a median of 6.7 years (range, 9 months to 14 years). Nearly half of the patients were admitted to hospital with symptoms characteristic of MCAD deficiency before the correct diagnosis was made. After diagnosis, two patients were admitted to hospital with severe encephalopathy but there were no additional deaths or appreciable morbidity. There was a high incidence (about one fifth) of previous sibling deaths among the cohort. CONCLUSIONS: Undiagnosed, MCAD deficiency results in considerable mortality and morbidity. However, current management improves outcome, supporting the view that the disorder should be included in newborn screening programmes.

Acyl-CoA Dehydrogenase↗

PubMed2005

Campaign to control genetic blood diseases in Bahrain.

UNLABELLED: Genetic blood diseases are frequent in Bahrain as in all Middle Eastern countries. Previous neonatal screening in 1984-1985 showed that the birth prevalence of sickle cell disease (SCD) was 2.1%, of sickle cell trait 11% and of glucose-6-phosphate dehydrogenase (G6PD) deficiency 25%. The Ministry of Health recognized the importance of controlling these diseases. In 1984, the first genetic clinic was established, which started the educational campaigns. Information booklets were prepared and distributed widely in schools and clubs in an attempt to increase awareness about these diseases among students and the public. In 1991, the Bahrain Hereditary Anemia Society was formed. In 1992, the Minister of Health formed a national committee for the prevention of genetic diseases in Bahrain. Screening of all pregnant women began, followed by newborn testing if the mother was found to be a carrier. In 1993, a premarital counseling (PMC) service was organized and in 1998, a student-screening project began. At this stage, we want to update the national birth prevalence figure by screening Bahraini newborns for these genetic diseases. This will help to design prevention programs and to measure the effect of health education on the previous birth prevalence figure. SUBJECTS AND METHODS: A newborn screening study was conducted to determine the effects of this long-term campaign (16-18 years). Cord blood samples from 2,000 Bahraini newborns were tested for hemoglobinopathies and G6PD deficiency using HPLC. RESULTS: 18 newborns were found to have SCD. The new birth prevalence figure for SCD in Bahrain is 0.9%, which indicates a 60% decline in the birth prevalence rate. CONCLUSION: With the continuation of education, awareness campaigns, screening of carriers and PMC, we expect the number of affected children born to be reduced tremendously over the next few years.

Anemia, Sickle Cell↗

PubMed2002

Epidemiology of 21-hydroxylase deficiency in Singapore.

We report the incidence and epidemiology of 21-hydroxylase deficiency in Singapore, based on a retrospective study of all known patients diagnosed with classical 21-hydroxylase deficiency in the past 21 years. The database was obtained from the case registry and questionnaire methodology, with 100% coverage of all practising pediatricians in Singapore. There were 42 patients affected with 21-hydroxylase deficiency in 964,558 live births over 21 years, comprising 64.3% salt wasters and 35.7% simple virilizers, of whom 50.0% were males and 50.0% females. The incidence of classical 21-hydroxylase deficiency is 4.5 per 100,000 live births, with a carrier frequency of 1:76, and a gene frequency of 0.0067. Although retrospective studies have inherent limitations, the gender and phenotype ratios suggest that the data provide a crude incidence level. This study underscores the necessity for prospective neonatal screening, so that the benefits of early diagnosis and treatment can be realized.

Adrenal Hyperplasia, Congenital↗

PubMed2005

3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening.

Isolated 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder that appears to be the most frequent organic aciduria detected in tandem mass spectrometry (TMS)-based neonatal screening programs. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. MCC is a heteromeric mitochondrial enzyme composed of biotin containing alpha subunits and smaller beta subunits, encoded by MCCA and MCCB, respectively. We report mutation analysis in 28 MCC-deficient probands, 19 of whom were asymptomatic newborns detected by TMS newborn screening, and nine presented with clinical symptoms. Ten have mutations in MCCA, and 18 in MCCB. We identified 10 novel MCCA and 14 novel MCCB mutant alleles including missense, nonsense, frameshift and splice site mutations, and show that three of the missense mutations result in severely decreased MCC activity when expressed in MCC-deficient cell lines. Our data demonstrate no clear correlation between genotype and phenotype suggesting that factors other than the genotype at the MCC loci have a major influence on the phenotype of MCC deficiency.

Alleles↗