Screening for Treatable Disorders

PEDIATRICS ◽  
1993 ◽  
Vol 91 (4) ◽  
pp. 853-853
Author(s):  
ELLEN WRIGHT CLAYTON
Keyword(s):  
Mental Retardation ◽  
Newborn Screening ◽  
Congenital Hypothyroidism ◽  
Metabolic Disorders ◽  
The Other ◽  
Opportunity To Respond ◽  
Actual Risk

In Reply.— I appreciate the opportunity to respond to Dr Arnold's thoughtful letter because she raises a frequently made argument that failure to consent to newborn screening constitutes actionable neglect.1-3 The problem with this argument, however, is that it tends to combine inappropriately the risks of failing to screen with the risks of failing to treat a child with the disease being sought.4 For example, the actual risk that any particular child who is not screened will develop mental retardation that could have been avoided is very low simply because the incidence of phenylketouria (PKU), congenital hypothyroidism, and the other metabolic disorders sought is very low, even in the aggregate.

Current and future perspective of newborn screening: an Indian scenario

2016 ◽  
Vol 29 (1) ◽  
Author(s):  
Gurjit Kaur ◽  
Kiran Thakur ◽  
Sandeep Kataria ◽  
Teg Rabab Singh ◽  
Bir Singh Chavan ◽  
...  
Keyword(s):  
Health Care ◽  
Congenital Adrenal Hyperplasia ◽  
Newborn Screening ◽  
Health Care System ◽  
Congenital Hypothyroidism ◽  
G6pd Deficiency ◽  
Metabolic Disorders ◽  
Adrenal Hyperplasia ◽  
Screening Programs ◽  
Care System

AbstractNewborn screening comprises a paramount public health program seeking timely detection, diagnosis, and intervention for genetic disorders that may otherwise produce serious clinical consequences. Today newborn screening is part of the health care system of developed countries, whereas in India, newborn screening is still in the toddler stage.We searched PubMed with the keywords newborn screening for metabolic disorders, newborn screening in India, and congenital disorder in neonates, and selected publications that seem appropriate.In India, in spite of the high birth rate and high frequency of metabolic disorders, newborn screening programs are not part of the health care system. At Union Territory, Chandigarh in 2007, newborn screening was initiated and is currently ongoing for three disorders, that is, congenital hypothyroidism, congenital adrenal hyperplasia, and glucose-6-phosphate dehydrogenase (G6PD) deficiency. Prevalence of these disorders is found to be 1:1400 for congenital hypothyroidism, 1:6334 for congenital adrenal hyperplasia, and 1:80 for G6PD deficiency.Mandatory newborn screening for congenital hypothyroidism should be implemented in India, and other disorders can be added in the screening panel on the basis of region-wise prevalence. The objective of this review is to provide insight toward present scenario of newborn screening in India along with recommendations to combat the hurdles in the pathway of mandatory newborn screening.

scholarly journals Effectiveness of neonatal screening for congenital hypothyroidism

2021 ◽  
Vol 6 (1) ◽  
pp. e05-e05
Author(s):  
Behrouz Shayestefard ◽  
Naim Sadat Kia ◽  
Masoumeh Alimohammadi ◽  
Elaheh Ghods
Keyword(s):  
Mental Retardation ◽  
Newborn Screening ◽  
Congenital Hypothyroidism ◽  
Screening Program ◽  
Growth Failure ◽  
Physical Growth ◽  
Newborn Screening Program ◽  
Normal Children ◽  
Significant Difference ◽  
And Gender

Introduction: Congenital hypothyroidism (CH) is the most common preventable cause of mental retardation. Newborn screening program considerably increases probability of CH diagnosis and treatment. Objectives: We aimed to investigate the efficacy of running CH screening program to maintain normal IQ and physical growth of hypothyroid children in Semnan city. Patients and Methods: This study was performed on children with definite CH who were treated and followed up in Semnan health centers. Around 41 children born within 2008-2013 (minimum three years of age) participated. Respective weight and height for age were measured. The Z-scores were calculated based on the WHO-Anthro-Anthro Plus Software. Intelligence Quotient (IQ) was measured with Wechsler Intelligence Score for children-revised (WISC-R). Data analyzed with one-tailed t test compared with age and gender-matched group. Results: The mean IQ Score in our study group was 90.09 (1.73) with no significant difference compared to healthy counterparts (P > 0.05). Z-score for weight and height was -0.46 and -0.45 prospectively and was not significantly different from normal children. Conclusion: Newborn screening program for CH has been effective in preventing mental retardation and growth failure.

scholarly journals Newborn Screening for Congenital Hypothyroidism in Japan

2021 ◽  
Vol 7 (3) ◽  
pp. 34
Author(s):  
Kanshi Minamitani
Keyword(s):  
Birth Weight ◽  
Low Birth Weight ◽  
Newborn Screening ◽  
Congenital Hypothyroidism ◽  
Failure To Thrive ◽  
Thyroid Stimulating Hormone ◽  
Low Birth Weight Infants ◽  
Term Infants ◽  
Screening Programs ◽  
Screening Strategies

Congenital hypothyroidism (CH) is the most common preventable cause of intellectual impairment or failure to thrive by early identification and treatment. In Japan, newborn screening programs for CH were introduced in 1979, and the clinical guidelines for newborn screening of CH were developed in 1998, revised in 2014, and are currently undergoing further revision. Newborn screening strategies are designed to detect the elevated levels of thyroid stimulating hormone (TSH) in most areas of Japan, although TSH and free thyroxine (FT4) are often measured simultaneously in some areas. Since 1987, in order not to observe the delayed rise in TSH, additional rescreening of premature neonates and low birth weight infants (<2000 g) at four weeks of life or when their body weight reaches 2500 g has been recommended, despite a normal initial newborn screening. Recently, the actual incidence of CH has doubled to approximately 1:2500 in Japan as in other countries. This increasing incidence is speculated to be mainly due to an increase in the number of mildly affected patients detected by the generalized lowering of TSH screening cutoffs and an increase in the number of preterm or low birth weight neonates at a higher risk of having CH than term infants.

scholarly journals Incidence and Interrelated Factors in Patients With Congenital Hypothyroidism as Detected by Newborn Screening in Guangxi, China

2015 ◽  
Vol 2 ◽  
pp. 2333794X1456719 ◽  
Author(s):  
Xin Fan ◽  
Shaoke Chen ◽  
Jiale Qian ◽  
Suren Sooranna ◽  
Jingi Luo ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Congenital Hypothyroidism ◽  
Screening Program ◽  
Thyroid Stimulating Hormone ◽  
Who Guidelines ◽  
Newborn Screening Program ◽  
Study Results ◽  
Stimulating Hormone

Background. A newborn screening program (NSP) for congenital hypothyroidism (CH) was carried out in Guangxi in order to understand the incidence of CH and the factors interrelated to major types of CH in this region of China. Methods. During 2009 to 2013, data from 930 612 newborns attending NSP in Guangxi were collected. Patients were classified with either permanent CH (PCH) or transient CH (TCH) after 2 years of progressive study. Results. A total of 1210 patients were confirmed with CH with an incidence of 1/769, including 68 PCH and 126 TCH cases with incidences of 1/6673 and 1/3385, respectively. The frequency of thyroid stimulating hormone values greater than 5 mIU/L was 7.2%, which, based on WHO guidelines, suggests that the population was mildly iodine deficient. Conclusions. The incidence of CH was high in Guangxi. Approximately two thirds of CH patients were TCH, which may be due to a deficiency in iodine within the population.

Urinary iodine and thyroglobulin are useful markers in infants suspected of congenital hypothyroidism based on newborn screening

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Makiko Tachibana ◽  
Yoko Miyoshi ◽  
Miho Fukui ◽  
Shinsuke Onuma ◽  
Tomoya Fukuoka ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Congenital Hypothyroidism ◽  
Clinical Course ◽  
Urinary Iodine ◽  
Iodine Status ◽  
Need For Treatment ◽  
Urine Creatinine ◽  
Few Data ◽  
The Relationship ◽  
Serum Tsh

Abstract Objectives Iodine deficiency and excess both cause thyroid dysfunction. Few data describe the relationship between iodine status and outcomes of congenital hypothyroidism (CH) in iodine-sufficient areas. We investigated urinary iodine (UI) concentration and its relationship with the clinical course of CH. Methods We reviewed and retrospectively analyzed patients with positive newborn screening (NBS) for CH from January 2012 to June 2019 in Japan, obtaining UI and UI-urine creatinine ratio (UI/Cr), serum TSH, free T4, free T3 and thyroglobulin (Tg) at the first visit, TSH at NBS, levothyroxine (LT4) dose, and subsequent doses. A UI value of 100–299 μg/L was considered adequate. Results Forty-eight patients were included. Median UI and UI/Cr were 325 μg/L and 3,930 µg/gCr, respectively. UI was high (≥300 μg/L) in 26 (54%) and low (≤99 μg/L) in 11 (23%). LT4 was administered to 34 patients. Iodine status was not related to the need for treatment. We found a U-shaped relationship between Tg and UI/Cr. Patients with high Tg (≥400 ng/mL) and abnormal UI levels required significantly lower LT4 doses (≤20 µg/day) at three years of age. Even if they showed severe hypothyroidism initially, they did not need subsequent dose increments. Conclusions Abnormal UI levels with Tg elevation were associated with lower LT4 dose requirements. The evaluation of iodine status and Tg concentrations were considered useful in patients suspected of CH.

PREVALENCE OF HOMOCYSTINURIA AMONG THE MENTALLY RETARDED: EVALUATION OF A SPECIFIC SCREENING TEST

PEDIATRICS ◽  
1967 ◽  
Vol 40 (4) ◽  
pp. 586-589
Author(s):  
George Link Spaeth ◽  
G. Winston Barber
Keyword(s):  
United States ◽  
Mental Retardation ◽  
Northern Ireland ◽  
Screening Test ◽  
Mentally Retarded ◽  
The United States ◽  
The Other ◽  
Other Hand

The prevalence of homocystinuria in patients with mental retardation institutionalized in the United States is about 0.02%; this is lower than a previous estimation from Northern Ireland (0.3%). On the other hand, about 5% of patients with dislocated lenses may be expected to have the disease. A silver-nitroprusside test which is almost completely specific for homocystine has been evaluated. It should be useful for screening.

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