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PubMed1981

[Neonatal screening for duchenne myopathy by serum elevation of creatine phosphokinase activity. 5 years experience].

The systematic seek of an increased activity of the SCK among all newborns has permitted the detection of the Duchenne-type muscular dystrophy in the "Rhone-alpes" area. By the survey of 40,000 births during 5 years and the detection of 16 Duchenne-type muscular dystrophies the authors estimate the incidence of DMD at 1/6500 living new born boys. The number of false positives (1,5 p. 1000) is little and, up to now, no false negative has been recorded. A few boys and girls keep and increased activity of the SCK, and 3 boys hae a Becker-type muscular dystrophy.

Clinical Enzyme Tests↗
PubMedDate not supplied

[Neonatal screening for congenital hypothyroidism and phenylketonuria].

A newborn screening program for congenital hypothyroidism (CH) and phenylketonuria (PKU) was conducted in 140 163 infants from the Federal District and the states of Mexico and Tlaxcala. These children were born mainly in hospitals for the non-insured population, although some were social security beneficiaries. Their filter-paper blood TSH and phenylalanine concentrations were determined 48 hours after birth. The frequency of CH was 1:1 797, with a 95 per cent confidence interval of 1:1 470 to 1:2 315, and was quite similar in the different types of hospitals. Only two PKU cases were found, for a frequency of 1:70 082, with a 95 per cent confidence interval of 0 to 1:4 762. This work demonstrates the feasibility of newborn screening programs in Mexico, identifies the problems to be solved in order to achieve a wide coverage and establishes the high frequency of CH in the Mexican population.

Age Distribution↗
PubMed1994

Outcome of treatment in young adults with phenylketonuria detected by routine neonatal screening between 1964 and 1971.

Intellectual status at 18 years is reported in 192 patients with phenylketonuria born in the UK between 1964 and 1971, together with their school progress. Mean IQs expressed as standard deviation scores (IQ-SDS) were significantly below estimated population norms, and showed a small decrease from 14 to 18 years of age (mean IQ-SDS -1.06 +/- 1.3 at 14 years and -1.28 +/- 1.07 at 18 years, t = 5.7, p < 0.0001). At 18 years, 27% of subjects had IQs over 2 SDs below the estimated population mean. IQ-SDS at 18 years, although significantly related to average phenylalanine control both between birth and 14 years, and between 14 and 18 years, was not independently related to either variable after allowing for IQ-SDS at 14 years. We conclude that general ability in young adults with early treated phenylketonuria, although reduced in comparison with their peers and closely related to phenylalanine control in early childhood, is not directly influenced by phenylalanine control in the four years preceding the 18th birthday. The apparent fall in IQ-SDS between 14 and 18 years may be due to methodological problems in the analysis of longitudinal IQ data without a control group, rather than providing evidence of intellectual decline.

Adolescent↗
PubMed1997

Neonatal screening for congenital hypothyroidism in Texas.

The Texas newborn screening for congenital hypothyroidism detects 90 to 150 cases each year; no affected babies have been missed. Babies dismissed from the hospital less than 24 hours after birth have a greater chance of an abnormal screening test, but most of the reported values reflect physiologic responses to birth and do not represent true hypothyroidism. A few represent thyroid disease. The astute physician recognizes a truly significant value; the unwary ignores a significant report and places the patient and himself at risk.

Congenital Hypothyroidism↗
PubMed1997

[Neonatal screening for sickle-cell disease].

Through migration and birth sickle cell disease has become an important health problem in the Netherlands: it is estimated that each year between 25 and 40 children are born with a form of sickle cell disease. A programme designed towards parental education, prevention and early intervention for complications of sickle cell disease (notably penicillin prophylaxis to prevent pneumococcal septicaemia and meningitis) may lead to reduction in morbidity. Early diagnosis is indicated since children with sickle cell disease will benefit most from such a programme in the first few years of life.

Anemia, Sickle Cell↗
PubMed2003

Neonatal hearing screening in a neonatal intensive care unit using distortion-product otoacoustic emissions.

OBJECTIVE: To determine pass and refer rates, and identify risk factors relating to refer responses, in neonates screened using distortion-product otoacoustic emissions (DPOAEs). MATERIAL AND METHODS: A total of 435 neonates admitted to the neonatal intensive care unit (NICU) of the Philippine General Hospital between May and October 2000 were screened using DPOAEs within 48 h of admission. RESULTS: The male:female ratio in the sample was 1.05. In total, 56% of neonates were born preterm, the mean birthweight was 2,428.39 +/- 710.39 g and 8.9% weighed < 1,500 g. In total, 47.9% were delivered by Caesarian section and 44.9% were delivered vaginally. Almost 14% of neonates had 1-min Apgar scores of < 6, and 4% had 5-min Apgar scores of < 7. Approximately 95% of neonates had a poor perinatal history. Using pediatric aging it was noted that 46% of these neonates were born preterm. and 30.4% were small for gestational age. At least one neonatal disease was found in 42% of neonates, whilst 95.7% had to be given medication. The bilateral refer rate was 29.1%. Two-by-two analysis of risk factors for hearing loss and DPOAE measurements showed that only male sex seemed to have a significant association with a refer response. Neonates weighing < 1,500 g at birth showed a marginally significant association with a refer response (p = 0.07). All other neonates showed no crude association with DPOAE measurements. CONCLUSION: These preliminary data show that a high proportion of NICU patients may have poor outer hair cell function, and thus poor hearing. In order to develop an effective neonatal hearing screening program, further studies of prevalence and risk factors should be pursued in the same setting.

Birth Weight↗
PubMed2001

Selective screening for neonatal galactosemia: an alternative approach.

UNLABELLED: No universal consensus exists for population-based neonatal screening for galactosemia. In our institution, selective screening for classical galactosemia is carried out on infants under 2 wk of age and those with symptoms suggestive of this disorder. Eighteen cases were diagnosed from 25,099 tests done; 17 were symptomatic at the time of diagnosis. CONCLUSION: We suggest that improved clinical vigilance and selective screening would identify most infants with severe galactosemia as early as a population-based program.

Biomarkers↗
PubMed1984

Follow-up study of a nation-wide neonatal metabolic screening program in Japan. A collaborative study group of neonatal screening for inborn errors of metabolism in Japan.

A nationwide neonatal screening program for phenylketonuria (PKU), maple syrup urine disease (MSUD), homocystinuria, histidinemia and galactosemia was started in Japan in 1977. The total number of infants screened had reached 6,311,754 by March, 1982. A follow-up study revealed the incidence of the disease in Japan: 1/108,823 for PKU; 1/450,840 for hyperphenylalaninemia (HPA); 1/1,577,939 for biopterin deficiency; 1/525,980 for MSUD; 1/1,051,959 for homocystinuria; 1/8,371 for histidinemia, and 1/788,969 for galactosemia type 1. The incidences of PKU, HPA, homocystinuria, and galactosemia (type 1) were found to be markedly low in Japan as compared with those in Caucasian countries. There was no great difference in the incidence of MSUD between both. On the other hand, the incidence of histidinemia was higher in Japan. It was found that most of the patients with PKU, HPA, MSUD, homocystinuria, or galactosemia are developing normally due to the early initiation of dietary treatment. These results clearly indicate that the neonatal mass screening program plays a great role in preventing the occurrence of handicapped children.

Biopterins↗