Neonatal Screening Test Research Articles

The Effect of Mode of Delivery on Newborn Hearing Screening Results.

Congenital hearing loss is one of the most important public health problems with a frequency of about 1-6 per 1000 live births all over the world. Although neonatal hearing screening tests are important for the timely detection and rehabilitation of hearing loss, determining the factors that may affect the screening results will contribute greatly to the development of screening programs. In this study, the effects of the modes of delivery on the results of tests in the screening program was investigated. In this study, the results of 10.575 newborns who were screened according to the National Neonatal Hearing Screening Protocol between January 2013 and May 2017 were evaluated. The screening test results of 2.653 newborns were examined retrospectively according to the type of delivery after candidates were excluded according to the exclusion criteria and risk factors for hearing loss. Of these newborns, 1.571 (59.2%) were born by normal delivery and 1.082 (40.8%) by cesarean section. Screening test results were analyzed using Pearson's Chi-square test. No statistically significant difference was observed among the 2.653 neonatal hearing screening test results in terms of mode of delivery (p>0.05). In both delivery modes, the rate of false positive was found to be high (81.9%) in the first hearing screening test of newborns, and this rate decreased in the second screening test (14.5%). The mode of delivery has no significant effect on the neonatal hearing screening results; however, the observation that neonates had been more successful in the second screening test in both groups suggests that the test protocol should be re-evaluated in terms of timing.

Sickle Cell Anaemia Prevalence Among Newborns in the Brazilian Amazon-Savanna Transition Region.

Sickle cell anaemia is one of the most common hemoglobinopathies worldwide and an important public health problem in Brazil. This study evaluated the prevalence of sickle cell anaemia and its traits in newborns from the Amazon-Savanna Transition Region in the state of Maranhão, Brazil. A cross-sectional study was carried out, based on data from neonatal screening tests performed in 2013–2015 in Maranhão. The Hardy-Weinberg theorem was applied to analyse the frequency of expected homozygotes based on HbSS phenotype. A spatial-temporal distribution analysis was performed to delimit the regions with the greatest number of newborn cases with sickle cell anaemia. Of 283,003 newborns, 162 were found to have sickle cell anaemia, while 10,794 had a sickle cell trait, with a prevalence of 0.05% and 3.8%, respectively. The prevalence of expected homozygotes was higher in the North Region and in the state capital of Maranhão. This study may contribute to existing social and public health actions or the creation of new strategies for sickle cell disease in endemic areas in Brazil to improve the quality of life.

Evaluation of the lingual frenulum in newborns using two protocols and its association with breastfeeding

ObjectiveTo characterize the lingual frenulum of full-term newborns using two different protocols and to assess the association of the lingual frenulum with breastfeeding. MethodsThis non-probabilistic sample consisted of 449 mother/baby binomials. For the anatomo-functional evaluation of the frenulum, the Neonatal Tongue Screening Test and the Bristol Tongue Assessment Tool were used for the evaluation of the lingual frenulum. Breastfeeding was evaluated using the protocol proposed by UNICEF. Scores were created (good, fair, poor) to evaluate every aspect of the breastfeeding to be observed. The results were analyzed through descriptive and inferential statistics and association tests (Pearson's chi-squared and Fisher's exact test). ResultsThe study showed that 14 babies had a lingual frenulum alteration, of whom three had difficulties during suction, requiring frenotomy in the first week of life, whereas 11 had no difficulties during breastfeeding. Regarding the breastfeeding evaluation, 410mother/baby binomials had good, 36 regular, and three had bad scores. There was a statistically significant association between the tongue-tie test protocol and breastfeeding (p=0.028) and between the Bristol Tongue Assessment Tool protocol and breastfeeding (p=0.028). ConclusionAlterations in the lingual frenulum are associated with interferences in the quality of breastfeeding and thus, evaluation of the lingual frenulum in newborns is important.

Neonatal screening tests in Brazil: prevalence rates and regional and socioeconomic inequalities

ObjectiveTo identify the prevalence and associated factors with the performance of the Guthrie test, hearing, and red reflex screening tests in Brazil. MethodsThis was a population-based, cross-sectional study that analyzed data on 5,231 children under 2 years of age participating in the National Health Survey of 2013. The study described the prevalence and Confidence Intervals (95% CI) of the three neonatal screening tests performed, in any period, and their association with the country's regions, skin color/ethnicity, private health insurance, and per capita household income. Logistic regression models were used, and odds ratios were calculated by incorporating sample weights. ResultsThe prevalence of Guthrie test screening in Brazil at any time of life was 96.5%, that of the newborn hearing screening was 65.8% and that of the red reflex screening test was 60.4%. The performance of the three screening tests was significantly higher among children whose mothers/guardians reported higher per capita household income, who lived in the South and Southeast regions, and who had private health insurance (p<0.001). There was no statistically significant difference regarding the performance of the tests according to skin color/ethnicity (p>0.05). The same inequalities were verified when the tests were performed during the recommended periods, with a strong socioeconomic gradient. ConclusionsThere are inequalities in the performance of neonatal screening tests in the country, and also in the performance of these tests during the periods established in the governmental guidelines. The guarantee of the performance of these tests in a universal and public health system, as in Brazil, should promote equity and access to the entire population.

Analysis of Major Factors Affecting False Positive Results in Neonatal Screening Test within 3 Days after Birth

Objective: We examined the factors affecting the false positive results in the accidental neonatal screening test (NST) within 3 days after birth and tried to find out the most relevant factors. Methods: From January 2011 to December 2016, we reviewed the electronic medical records of 142 patients with a gestational age of 34 weeks or more who had false positives at the first NST. NST was performed by tandem mass spectrometry. We collected information on gestational age, birth weight, delivery method, Apgar score at the time of birth. Postnatal exam time, body weight, feeding volume and parenteral nutrition, antibiotics, and steroid administration were also investigated at the time of NST. Results: In the first NST, there were 102 cases of congenital adrenal hyperplasia, 27 cases of congenital hypothyroidism, nine cases of galactosemia and one case of homocystinuria. Gender, birth weight, and delivery method were statistically significant (P<0.05) at the time of birth using Pearson Chi-square method. There were significant differences in body weight, feeding volume, parenteral nutrition at the time of NST (P<0.05). In binary logistic regression analysis, the gender and the body weight seemed significant statistically. Conclusion: Male sex and weight were identified as major factors of the false positive results in the NST performed within 3 days after birth, but further studies seemed to be needed. In the case of patients with short admission period or insufficient perinatal information, the first NST after birth should be performed at the time of outpatient department or after precise information collection.

Parent Cognitive Satisfaction and Demand Research of Neonatal Hearing Screening.

The primary aim of the present study was to investigate parent cognitive satisfaction and demand by using a valid and reliable questionnaire developed for this purpose (Parent Cognitive Satisfaction and Demand Questionnaire with Neonatal Hearing Screening Program, PCSDQ-NHSP). About 1000 parents whose children received hearing screening participated in this study. The satisfaction questionnaire was found to be a useful instrument for identifying service shortfalls, and the routine use of the PCSDQ-NHSP in other neonatal hearing screening programs is recommended. Overall, parents focused their attention to the neonatal hearing screening results and had high levels of expectations. They also longed for more information about relevant knowledge. Screening ability differed in different areas of Guangdong province where grass-roots hospitals had poor ability to perform this well. More preappointment information leaflets or brochures should be sent to parents. Regular training for neonatal hearing screening test is needed in primary hospitals. We can establish a neonatal hearing screening network to link as many hospitals as possible, and develop a standardized neonatal hearing screening system.

Association between ankyloglossia and breastfeeding.

To analyze the association between ankyloglossia and breastfeeding. A cross-sectional study was undertaken on 130 newborn infants in exclusive breastfeeding with Apgar score ≥ 8 within the first five days of life. The research was approved by the Ethics Committee on Human Research. The data collection was performed by the researcher and by three trained speech therapists of the team. The protocols applied were the Neonatal Tongue Screening Test from the Lingual Frenulum Protocol for Infants, the UNICEF Breastfeeding Observation Aid, and the collection of maternal complaints related to the difficulty in breastfeeding was also considered. The data were submitted to statistical analysis - chi-square test and Fisher's exact test, with a significance level of 5%. When correlating the data, the statistical analysis revealed an association between ankyloglossia and the items of suckling category of the Breastfeeding Observation Aid. The association between complaint of difficulty in breastfeeding and ankyloglossia was also seen. On the first days of life, ankyloglossia is associated with the mother's breastfeeding complaint and with the newborn's sucking difficulty.

Rare Diseases in Uruguay: Focus on Infants with Abnormal Newborn Screening

Abstract Introduction: Newborn Screening Program (NBS) in Uruguay includes congenital hypothyroidism (CHT), phenylketonuria (PKU), congenital adrenal hyperplasia (CAH), cystic fibrosis (CF), medium chain acyl-CoA dehydrogenase deficiency (MCADD), and Congenital Hearing Loss (CHL). Objetives: This study describe the epidemiological characteristics of newborns with abnormal neonatal screening tests diagnosed by blood drop and otoacoustic emissions in Uruguay. Results: Cases with abnormal NBS tests (399 newborns; 0.17%) were compared to the newborns with normal tests in the same period (239,240). Prevalence rates (per 10,000 livebirths) were 10.00 for CHL; 3.70 for CH; 1.20 for CF; 0.59 for CAH; 0.54 for PKU; 0.13 for MCADD. The Department of Artigas had the highest rate of abnormal tests. Lower maternal education, less prenatal care, increased prematurity rate and neonatal depression were more frequent in in mothers whose children had CHL. Conclusions: This is the first study evaluating the characteristics of newborns with abnormal screening in Uruguay. Because these results may impact the planning of health services, data transmission between clinical care and public health systems is needed to improve both follow-up and management.

A Case with Thyroid Hormone Resistance Syndrome

Thyroid hormone resistance is a rare syndrome of reduced tissue responsiveness to thyroid hormone. We report the case of a 13-month girl with short height and low weight. She was born at 37+6 weeks gestation and weighed 2,470 g. In the neonatal screening test, patients’ thyroid stimulation hormone (TSH) level was increased to 13.1 μIU/mL. In follow-up test after getting levothyroxine medication, patients’ free T4 level continued to increase and TSH level was normalized. After stop medication, the patient visited Soonchunhyang University Seoul Hospital every 2 to 3 months and done laboratory test, and the result was not changed. Despite good feeding, she consistently shows 5–10 percentile weight and 5–10 percentile height. Her bone age was delayed by 5 months compared to the expected age. In suspicious thyroid hormone resistance, THRβ gene study and brain magnetic resonance imaging (MRI), and T3 suppression test was done. Brain MRI and T3 suppression test shows the exception of pituitary thyroid adenoma. Gene study result was THRβ gene mutation, c.1012C > T (p.Arg338Trp), and heterozygous. This gene mutation was reported at thyroid hormone resistance family. After diagnosis of thyroid hormone resistance, because of the patient is asymptomatic, she does not have medication. We are checking developmental delay, growth delay, and other clinical hypothyroid symptoms. Key words: Thyroid hormone resistance syndrome; Thyroid function tests; Thyroid hormone receptors beta

Anquiloglossia - da histogênese, e implicações parafuncionais aos aspectos legais: uma revisão bibliográfica

Objetivo: abordar as consequências da anquiloglossia quando não há intervenção precoce, além das implicações legais esperadas. Material e Métodos: este estudo verificou as bases de dados PubMed, Bireme, Google Scholar, Scielo, Lilacs e Medline. Dos 30 artigos encontrados, nove foram descartados por não se identificarem com os objetivos. Resultados: a anquiloglossia é um distúrbio congênito do frênulo lingual que limita a elevação e protrusão da língua devido à sua curta extensão e repercute em todo o sistema estomatognático. Verifica-se na literatura que a língua é totalmente formada no segundo mês de gestação e que o frênulo é formado após apoptose das células de freio linguais e reabsorção do músculo esquelético em desenvolvimento. Portanto, a anquiloglossia é classificada em cinco graus, de acordo com sua mobilidade, e em quatro tipos, de acordo com sua espessura e elasticidade. O Neonatal Tongue Screening Test é aplicado de acordo com uma lei e a não realização deste teste pode levar a consequências anatômicas e funcionais para a mãe e o bebê. O tratamento recomendado é a frenectomia, embora a frenectomia e a Z-Plastia possam ser utilizadas. Conclusão: conclui-se que os profissionais de saúde não devem descuidar do teste, para evitar o agravamento dessa condição.

Symptomatic Hemoglobin New Mexico and a Case of Therapeutic Benefit with Acetazolamide

INTRODUCTIONInherited disorders due to rare structural Hb variants are not included in national, neonatal screening tests and therefore likely underdiagnosed. Hemoglobin New Mexico is one such rare variant with only one case ever reported in 1985 in conjunction heterozygosity for Hb S.1 This Hb variant involves a missense mutation of the β chain substituting the hydrophobic Proline β100 with the hydrophilic Arginine.1 We present here the second case of Hb New Mexico variant ever reported to our knowledge.CASE PRESENTATIONAn 18-year-old athletic, Latin American female initially presented with episodic chest pain, palpitations, fatigue, headaches, and dyspnea on exertion to the point that she could no longer exercise for one year. Work up revealed erythrocytosis persistent for >1 year with hemoglobin level of 17.3 g/dL, and hematocrit of 47.2 % (Hb went as high as 19g/dL) with normal erythropoietin level, hemoglobin electrophoresis, and JAK2 V617 with reflex to JAK3 exon 12-15 negative. She had extensive evaluation to rule out acquired causes including cardiac, pulmonary, and neurologic evaluation which was all normal. She underwent therapeutic phlebotomies with no clinical improvement over 3 months and symptoms worsened as well as new iron deficiency from phlebotomies so this was discontinued. Evaluation with p50 oxygen dissociation curve revealed high oxygen affinity. Further gene sequencing revealed heterozygous inheritance of Hb New Mexico with HbA: 54.5%, HbA2: 3.6%, and Hb New Mexico: 41.9%. Beta Globin Gene sequencing identified the following mutation: Beta 100, CCT>CGT, Pro>Arg. Her symptoms worsened as well as an episode of syncope but no new neurologic, cardiac, or pulmonary etiologies were identified and at the time Hg 18g/dL. A trial of low dose acetazolamide 125mg daily was given to the patient and her symptoms improved by a 6 week follow up with notable reduction of headache, fatigue, dyspnea, and chest pain.CONCLUSIONSGiven the rarity of this hemoglobin variant in a patient with severe symptoms, data is limited. Acetazolamide, a carbonic anhydrase inhibitor often used for migraines, is known to illicit mild acidosis and therefore potentially reduce hemoglobin-oxygen affinity and perhaps allow for relief of our patient's symptoms. Further therapeutic evaluation is warranted but likely challenging given rarity of the condition. DisclosuresNo relevant conflicts of interest to declare.

Comparação entre a evolução de pré-escolares com fibrose cística identificados por triagem neonatal ou por sintomatologia clínica

AIMS: To compare clinical, laboratory and spirometric parameters of preschoolers (ages from three to six years old) with cystic fibrosis identified by abnormal newborn screening test (NS group), with data of patients whose diagnostic suspicion arose from characteristic clinical signs and symptoms (CS group).METHODS: Retrospective cohort study, with a sample obtained from the medical charts of patients who received specialized and multidisciplinary outpatient follow-up. All the included children had a confirmed diagnosis of cystic fibrosis by sweat electrolyte testing and/or genetic sequencing. Variables included sex, weight, height, body mass index, number of hospitalizations per year, Pseudomonas aeruginosa colonization, presence of pancreatic insufficiency and Shwachman score, which covers four domains: general activity, nutrition, radiological examination and physical evaluation, each one scored between 5 and 25 points. A total score ≤40 points indicates severe state, and ≥86 points indicates excellent state. For comparison of pulmonary function, data from the last spirometry performed before the age of six years were used. Outcomes were compared by chi-square or Student's t test, with a significance limit of 0.05.RESULTS: Twenty-four patients were included in the study, seven children in the NS group and 17 children in the CS group. The children of the NS group started follow-up with a mean age of 1.51±2.04 months, and those of the CS group started with 3.77±1.80 months (p=0.014). The mean Shwachman score was 94.40±2.19 in the NS vs. 87.67±8.00 in the CS group (p=0.018). The mean Z score for body mass index was 0.95±1.02 in the NS group vs. 0.51±1.05 in the CS group (p=0.051). Spirometric variables had slightly higher values in the NS group, with no statistically significant difference between groups.CONCLUSIONS: The results suggest that those patients diagnosed with cystic fibrosis from the neonatal screening test suspicion benefited from an early intervention, being able to initiate pulmonary function tests and receive treatment and counseling earlier. Evaluation of clinical parameters with the Shwachman score showed that benefits could be already observed at the preschool age.

Congenital adrenal hyperplasia: clinical symptoms and diagnostic methods.

The aim of this paper is a straightforward presentation of the steroidogenesis process and the most common type of congenital adrenal hyperplasia (CAH) - 21-hydroxylase deficiency - as well as the analytical diagnostic methods that are used to recognize this disease. CAH is a family of common autosomal recessive disorders characterized by impaired adrenal cortisol biosynthesis with associated androgen excess due to a deficiency of one or more enzymes in the steroidogenesis process within the adrenal cortex. The most common and prototypical example of the CAH disorders group (90-95%) is caused by 21-hydroxylase deficiency. Less frequent types of CAH are 11β-hydroxylase deficiency (up to 8% of cases), 17α-hydroxylase deficiency, 3β-hydroxysteroid dehydrogenase deficiency, P450 oxidoreductase deficiency and StAR deficiencies. In the 21-hydroxylase and 11β-hydroxylase deficiency, only adrenal steroidogenesis is affected, whereas a defect in 3β-hydroxysteroid dehydrogenase or 17α-hydroxylase also involves gonadal steroid biosynthesis. Many countries have introduced newborn screening programs based on immunoassays measuring 17-hydroxyprogesterone from blood spots used for other neonatal screening tests which enable faster diagnosis and treatment of CAH. Currently, chromatographic techniques coupled with mass spectrometry are gaining popularity due to an increase in the reliability of the test results.

Is the Neonatal Tongue Screening Test a valid and reliable tool for detecting ankyloglossia in newborns?

Although there is a lack of strong evidence for the association between ankyloglossia in newborns and impaired breastfeeding, screening for ankyloglossia using the Neonatal Tongue Screening Test (NTST) is mandated by law in Brazilian maternities. To assess the reliability and validity of the NTST. cohort study; baseline sample comprised 268 mother-newborn dyads. At follow-up, 169 mothers were contacted by telephone. Interviews with the mothers for data collection were performed up to 48 h and at 1-3 months after childbirth. Trained and calibrated personnel performed the oral examinations of the newborns. Thirty newborns were examined for inter-reproducibility assessment. Of the 268 newborns included, 212 had a lingual frenulum that could be visually inspected and their NTST scores ranged from zero to nine (mean = 2.0, ±2.0). Interexaminer reproducibility was acceptable (Intraclass correlation coefficient = 0.77). Internal consistency of the NTST was poor (Cronbach's alpha = 0.28). Construct validity was investigated through the association between NTST scores and difficulties in breastfeeding at baseline and follow-up, and infants' weight gain at follow-up (mean age 32 ± 6.7 days). No statistically significant associations were found. NTST is neither reliable nor valid for detecting ankyloglossia that may interfere with breastfeeding in newborns.

Children with premature pubarche: is an alterated neonatal 17-Ohp screening test a predictive factor?

BackgroundNeonatal screening for 21 hydroxylase deficiency is designed to detect classical form of congenital adrenal hyperplasia (CAH). It is still unclear whether newborns who result false positives at neonatal screening might later develop signs of androgen excess. The aim of this study is to verify whether a slightly elevated 17-OHP at newborn screening is a predictive factor for premature pubarche.MethodsWe evaluated all infants born between 2001 and 2014 with premature pubarche. In case of increased bone age, they were submitted to functional tests to find out the cause of their symptoms. Their 17-OHP values at newborn screening for CAH were reconsidered.ResultsWe identified 330 patients (269 females, 61 males) with premature pubarche. All these children had a normal 17-OHP at newborn screening with the exception of a child, born preterm and not affected by CAH.ConclusionsAn elevated 17-OHP at newborn screening is not a predictive factor for premature pubarche. A likely cause of increased 17-OHP level at screening is an immaturity of adrenal gland or a neonatal stress. Therefore a strict follow up of these neonates during childhood is not necessary.

Disabled pronouness filling: an entrance to health services

Introduction: Information is a fundamental element in the analysis of health situations, because they offer subsidies for the planning and organization of services. At the end of 2015 new cases of children born with microcephaly associated with Zika Virus infection were registered. These children were introduced into the network of attention to the disabled person for early stimulation and developmental follow-up. It is hoped that the record of the attention given to these children will be correctly made in the medical records, which are the formal instruments of the interventions made by the professionals. Objectives: To describe the quality of records made of medical records of children diagnosed with microcephaly accompanied at a level III Specialized Rehabilitation Center in the state of Alagoas. Method: This is a descriptive and cross-sectional research, where the records of the secondary data were analyzed in medical records of children diagnosed with microcephaly, accompanied at a specialties center. It were monitored the filling of related variables: age, gender, cephalic perimeter (CP) and Neonatal Screening Tests (NSTs); The origin and infections related to the gestational period of the mothers of these children. Results: A total of 30 medical records were evaluated, where they presented fragility in the filling, being the variables related to origin and sociodemographic aspects the most precarious. Discussion: It was verified the absence of exams recommended by the Ministry of Health, the records of the conducts were not clearly described, besides the absence of a standardized evaluation form. Conclusion: It can be evidenced that there is precariousness in the filling of documents that characterize the monitoring of children with microcephaly in a specialized rehabilitation center, preventing the delineation of the sociodemographic profile of the users, as well as the correct mapping of the origin of the cases. This lack of data limits correct planning and actions planning for users, making care dispensed fragile.

Clinical course of infants with congenital heart disease who developed thyroid dysfunction within 100 days.

PurposeWe investigated the clinical course of infants with congenital heart disease (CHD) who experienced thyroid dysfunction within 100 days of birth.MethodsWe performed retrospective medical reviews of 54 CHD patients (24 male patients) who underwent a thyroid function test (TFT) between January 2007 and July 2016. Data were collected on birth history, diagnosis of CHD, underlying chromosomal or genetic abnormalities, medication history, surgery, ventilator care, and exposure to iodine contrast media (ICM). Results of neonatal screening tests (NSTs) and TFTs were reviewed.ResultsA total of 36 patients (29 transient, 7 permanent) showed thyroid dysfunction. Among the seven patients with permanent hypothyroidism, three had an underlying syndrome, three showed abnormal NST results, and one was admitted to the intensive care unit for macroglossia and feeding cyanosis. We found that infants with transient thyroid dysfunction had a lower birth weight and were more commonly exposed to thyroid disrupting medication and/or ICM. However, these risk factors were not significant. A total of 8 patients with a history of ICM exposure showed thyroid dysfunction. Excluding 3 patients with elevated thyroid stimulating hormone before ICM exposure, 5 patients recovered from transient thyroid dysfunction.ConclusionsWe observed thyroid dysfunction in two-thirds of CHD infants (53.7% transient, 13.0% permanent) who had risk factors and received TFT screening within 100 days, despite normal NSTs. Further studies with larger sample sizes are required to revise the criteria for TFT screening in CHD infants.

Abstracts of Presentations Scheduled for the 10th ISNS-Asia Pacific Regional Meeting, Ulaanbataar, Mongolia, 24–26 August 2017

The International Society for Neonatal Screening (ISNS) recognises six different geographical regions [...]

Elaboração e desenvolvimento de um website sobre o teste da linguinha

RESUMO Objetivo: desenvolver um website sobre o “Teste da Linguinha”. Métodos: pesquisa aplicada, baseada no desenvolvimento ativo de um website com a finalidade de disponibilizar informações sobre o Teste da Linguinha. O desenvolvimento desse estudo consistiu de 3 etapas: conceituação, desenvolvimento e implementação. Para a etapa de conceituação foi definido o público-alvo, o objetivo, a análise e a definição do conteúdo por meio de revisão de literatura sobre anquiloglossia, avaliação do frênulo lingual em bebês e frenotomia. A etapa de desenvolvimento do website foi realizada por meio de editor de texto, digitalizador e editor de imagens. Para a construção das páginas Web foi utilizado o editor de texto Sublime. Para o teste das páginas em ambiente Internet foi selecionado o navegador Chrome. A fase de implementação envolveu a publicação do website na rede mundial de computadores. Resultados: o website “Teste da Linguinha” encontra-se implementado com domínio já registrado. O conteúdo desse website é destinado a pais/cuidadores e profissionais da saúde, orientando sobre o teste e sobre a língua presa, com base em estudos científicos. O referido website foi elaborado com layout responsivo, podendo ser acessado em tablet, telefones celulares com acesso à internet e/ou em computadores, independentemente do sistema operacional, por meio dos principais navegadores disponíveis, sem perder a funcionalidade. Conclusão: o website “Teste da linguinha” foi finalizado e pode ser acessado pelo endereço eletrônico www.testedalinguinha.com.

Intellectual development in preschool children with early treated congenital hypothyroidism

PurposeDelayed treatment of congenital hypothyroidism (CH) is a common cause of mental retardation. The aim of the present study was to evaluate intellectual outcomes in preschool children with treated CH.MethodsWe retrospectively reviewed the clinical records of 43 children (age range: 13 to 60 days of life; 22 girls and 21 boys) diagnosed with CH. Children aged 5 to 7 years were examined using the Korean Wechsler Intelligence Scale for Children or the Korean Wechsler Preschool and Primary Scale of Intelligence.ResultsThe patients started treatment between 13 and 60 days of age. The mean intelligence quotient (IQ) of patients tested at age 5 to 7 years was 103.14±11.68 (IQ range: 76–126). None had intellectual disability (defined as an IQ <70). Twenty-one subjects were treated with a low dose (6.0–9.9 µg/kg/day) and 22 with a high dose of levothyroxine (10.0–16.0 µg/kg/day). There was no significant difference in the mean full-scale IQ (FSIQ), verbal IQ (VIQ), and performance IQ (PIQ) scores between the 2 groups. FSIQ, PIQ, and VIQ scores were not significantly correlated with initial dose of L-T4, initial fT4, age at treatment in multivariate analysis.ConclusionIQ scores of subjects with early treated CH diagnosed through a neonatal screening test were within normal range, regardless of etiology, thyroid function, initial dose of levothyroxine, and age at start of treatment.