Neonatal screening: 9% of children with filter paper thyroid-stimulating hormone levels between 5 and 10 µIU/mL have congenital hypothyroidism / Triagem neonatal: 9% das crianças com TSH em papel filtro entre 5 e 10 µUI/mL têm hipotireoidismo congênito

Abstract Objectives: To determine the prevalence of congenital hypothyroidism in children with filter-paper blood-spot TSH (b-TSH) between 5 and 10 µIU/mL in the neonatal screening. Methods: This was a retrospective study including children screened from 2003 to 2010, with b-TSH levels between 5 and 10 µIU/mL, who were followed-up during the first two years of life when there was no serum TSH normalization. The diagnosis of congenital hypothyroidism was defined as serum TSH ≥10 µIU/mL and start of levothyroxine treatment up to 2 years of age. Results: Of the 380,741 live births, 3713 (1.04%) had filter paper TSH levels between 5 and 10 µIU/mL and, of these, 339 (9.13%) had congenital hypothyroidism. Of these, 76.11% of the cases were diagnosed in the first three months of life and 7.96% between 1 and 2 years of age. Conclusion: The study showed that 9.13% of the children with b-TSH levels between 5 and 10 µIU/mL developed hypothyroidism and that in approximately one-quarter of them, the diagnosis was confirmed only after the third month of life. Based on these findings, the authors suggest the use of a 5 µIU/mL cutoff for b-TSH levels and long-term follow-up of infants whose serum TSH has not normalized to rule out congenital hypothyroidism.

Resumo Objetivos: Determinar a prevalência de hipotireoidismo congênito em crianças com TSH em papel filtro (TSH-f) entre 5 e 10 µUI/mL na triagem neonatal. Métodos: Estudo retrospectivo que incluiu crianças triadas de 2003 a 2010, com TSH-f entre 5 e 10 µUI/mL, acompanhadas nos dois primeiros anos de vida quando não houve normalização do TSH sérico. O diagnóstico de hipotireoidismo congênito foi definido como TSH sérico igual ou superior a 10 µUI/mL e início de tratamento com levotiroxina até os dois anos. Resultados: Dos 380.741 nascidos vivos triados, 3.713 (1,04%) apresentaram TSH-f entre 5 e 10 µUI/mL e, desses, 339 (9,13%) tinham hipotireoidismo congênito. Desses, 76,11% dos casos foram diagnosticados nos primeiros três meses de vida e 7,96% entre um e dois anos. Conclusão: O estudo mostra que 9,13% das crianças com TSH-f entre 5 e 10 µUI/mL desenvolveram hipotireoidismo e que em cerca de um quarto delas o diagnóstico só se confirmou após o terceiro mês de vida. Com base nesses achados, sugere-se, para descartar o hipotireoidismo congênito, o uso do ponto de corte de TSH-f de 5 µUI/mL e o acompanhamento em longo prazo dos lactentes cujo TSH sérico não tenha se normalizado.

Neonatal screening: 9% of children with filter paper thyroid-stimulating hormone levels between 5 and 10µIU/mL have congenital hypothyroidism.

OBJECTIVES: To determine the prevalence of congenital hypothyroidism in children with filter-paper blood-spot TSH (b-TSH) between 5 and 10µIU/mL in the neonatal screening. METHODS: This was a retrospective study including children screened from 2003 to 2010, with b-TSH levels between 5 and 10µIU/mL, who were followed-up during the first two years of life when there was no serum TSH normalization. The diagnosis of congenital hypothyroidism was defined as serum TSH ≥10µIU/mL and start of levothyroxine treatment up to 2 years of age. RESULTS: Of the 380,741 live births, 3713 (1.04%) had filter paper TSH levels between 5 and 10µIU/mL and, of these, 339 (9.13%) had congenital hypothyroidism. Of these, 76.11% of the cases were diagnosed in the first three months of life and 7.96% between 1 and 2 years of age. CONCLUSION: The study showed that 9.13% of the children with b-TSH levels between 5 and 10µIU/mL developed hypothyroidism and that in approximately one-quarter of them, the diagnosis was confirmed only after the third month of life. Based on these findings, the authors suggest the use of a 5µIU/mL cutoff for b-TSH levels and long-term follow-up of infants whose serum TSH has not normalized to rule out congenital hypothyroidism.

Fine motor skills and expressive language: a study with children with congenital hypotyreoidism. / Habilidade motora fina e linguagem expressiva em crianças com hipotireoidismo congênito.

PURPOSE: To screen the global development of children with and without congenital hypothyroidism and to investigate the association between fine motor skills and expressive language development in both groups. METHODS: This is a prospective study of a cohort of children diagnosed with Congenital Hypothyroidism and monitored in a reference service for congenital hypothyroidism of a public hospital and of children without this disorder. The screening was performed using the Bayley Scales of Infant Development III in the cognitive, gross and fine motor skills, and receptive and expressive language domains. The children's performance was expressed in three categories: competent, and non-competent. RESULTS: We screened 117 children with average age of 21 months diagnosed with Congenital Hypothyroidism at birth, with the Thyroid Stimulating Hormone (TSH) level normalized during screening, and 51 children without the condition. The children with Congenital Hypothyroidism presented lower performance in gross and fine motor skills upon comparison between the two groups, and no differences were found in the cognitive and receptive and expressive language domains. The association between fine motor skills and language persisted in the group with Hypothyroidism, demonstrating that the interrelationship of skills is present in all individuals, although this group is two times more likely to present expressive language impairment when fine motor skills are already compromised. CONCLUSION: In the development process, both skills - motor and expressive language - might be associated and/or dependent on each other in the sample assessed.

Habilidade motora fina e linguagem expressiva em crianças com hipotireoidismo congênito / Fine motor skills and expressive language: a study with children with congenital hypotyreoidism

RESUMO Objetivo Triar o desenvolvimento global de crianças com e sem hipotireoidismo congênito e investigar a associação entre as habilidades motora fina e de linguagem expressiva nesses dois grupos. Método Trata-se de um estudo prospectivo de uma coorte de crianças com hipotireoidismo congênito, diagnosticadas e acompanhadas em um serviço de referência em triagem neonatal de um hospital público e de crianças sem essa disfunção. A triagem foi realizada por meio das Escalas Bayley de Desenvolvimento Infantil III, nos domínios cognitivo, motor grosso e fino e de linguagem receptiva e expressiva. O desempenho das crianças foi expresso em competente e não competente. Resultados Foram triadas 117 crianças com Hipotireoidismo Congênito diagnosticado pelo teste do pezinho, com o nível de Hormônio Tireotrófico (TSH) normalizado no momento da avaliação e 51 sem essa doença, ambos os grupos com idade média de 21 meses. As crianças com Hipotireoidismo Congênito apresentaram um desempenho pior nas habilidades motora grossa e fina quando realizada a comparação entre os dois grupos e não houve diferença nas áreas cognitiva e de linguagem receptiva e expressiva. A associação entre motricidade fina e linguagem persiste no grupo com a doença, demonstrando que há uma inter-relação dessas habilidades, sendo que o grupo com hipotireoidismo apresenta duas vezes mais chances de alterações na linguagem expressiva quando a motricidade fina já estiver comprometida. Conclusão No processo de desenvolvimento, ambas as habilidades, linguagem expressiva e motricidade fina, podem estar associadas e/ou dependentes uma da outra nesta amostra avaliada.

ABSTRACT Purpose To screen the global development of children with and without congenital hypothyroidism and to investigate the association between fine motor skills and expressive language development in both groups. Methods This is a prospective study of a cohort of children diagnosed with Congenital Hypothyroidism and monitored in a reference service for congenital hypothyroidism of a public hospital and of children without this disorder. The screening was performed using the Bayley Scales of Infant Development III in the cognitive, gross and fine motor skills, and receptive and expressive language domains. The children's performance was expressed in three categories: competent, and non-competent. Results We screened 117 children with average age of 21 months diagnosed with Congenital Hypothyroidism at birth, with the Thyroid Stimulating Hormone (TSH) level normalized during screening, and 51 children without the condition. The children with Congenital Hypothyroidism presented lower performance in gross and fine motor skills upon comparison between the two groups, and no differences were found in the cognitive and receptive and expressive language domains. The association between fine motor skills and language persisted in the group with Hypothyroidism, demonstrating that the interrelationship of skills is present in all individuals, although this group is two times more likely to present expressive language impairment when fine motor skills are already compromised. Conclusion In the development process, both skills – motor and expressive language – might be associated and/or dependent on each other in the sample assessed.

Quality of sweat test (ST) based on the proportion of sweat sodium (Na) and sweat chloride (Cl) as diagnostic parameter of cystic fibrosis: are we on the right way?

BACKGROUND: To assess the quality of sweat test (ST) based on the proportion of sweat sodium and sweat chloride as diagnostic parameter of cystic fibrosis (CF). METHODS: A retrospective study of 5,721 sweat samples and subsequent descriptive analysis were carried out. The test was considered "of good quality" (correct) when: (i) sweat chloride was lower than 60 mEq/L, and sweat sodium was higher than sweat chloride; (ii) sweat chloride was higher than 60 mEq/L, and sweat sodium was lower than sweat chloride. RESULTS: The study included 5,692/5,721 sweat samples of ST which had been requested due to clinical presentations compatible with CF and/or neonatal screenings with altered immunoreactive trypsinogen values. Considering the proportion of sweat sodium and sweat chloride as ST quality parameter, the test was performed correctly in 5,023/5,692 (88.2 %) sweat samples. The sweat chloride test results were grouped into four reference ranges for chloride (i) chloride < 30 mEq/L: 3,651/5,692 (64.1 %); (ii) chloride ≥ 30 mEq/L to < 40 mEq/L: 652/5,692 (11.5 %); (iii) ≥ 40 mEq/L to < 60 mEq/L: 673/5,692 (11.8 %); (iv) ≥ 60 mEq/L: 716/5,692 (12.6 %). In the comparative analysis, there was no association between ST quality and: (i) symptoms to indicate a ST [respiratory (p = 0.084), digestive (p = 0.753), nutritional (p = 0.824), and others (p = 0.136)], (ii) sweat weight (p = 0.416). However, there was a positive association with: (i) gender, (ii) results of ST (p < 0.001), (iii) chloride/sodium ratio (p < 0.001), (iv) subject's age at the time of ST [grouped according to category (p < 0.001) and numerical order (p < 0.001)]. For the subset of 169 patients with CF and two CFTR mutations Class I, II and/or III, in comparative analysis, there was a positive association with: (i) sweat chloride/sodium ratio (p < 0.001), (ii) sweat chloride values (p = 0.047), (iii) subject's age at the time of the ST grouped by numerical order (p = 0.001). CONCLUSIONS: Considering that the quality of ST can be assessed by levels of sweat sodium and sweat chloride, an increasing number of low-quality tests could be observed in our sweat samples. The quality of the test was associated with important factors, such as gender, CF diagnosis, and subjects' age.

Comparison of motor and cognitive performance in infants during the first year of life.

PURPOSE: To compare motor and cognitive performance in infants with typical development in the 1st, 2nd, 3rd, 6th, 9th, and 12th months after birth. METHODS: This was a repeated-measures study with unequal sample sizes in the follow-up periods, comprising 94 infants born at term. Infants with genetic syndromes, malformations, congenital infections, or hospitalized in intensive care units were excluded. The Bayley Scales of Infant Development II were used for evaluation of cognitive and motor performance. RESULTS: There were significant differences between motor and cognitive performance at 1, 2, and 3 months. However, at 6, 9, and 12 months, there was no difference between domains. CONCLUSION: This study suggests that during the first year, development can be synchronous in the 2 areas evaluated by the Bayley Scales of Infant Development II, especially from the sixth month of age onward.

Recém-nascido pequeno para a idade gestacional: repercussão nas habilidades motoras finas / Small-for-gestational-age newborn infant: repercussion on fine motor skills

OBJETIVO: Comparar as habilidades motoras finas de lactentes nascidos a termo pequenos para a idade gestacional (PIG) com as habilidades dos nascidos adequados para a idade gestacional (AIG) no terceiro mês de vida. MÉTODOS: Realizou-se um estudo observacional de corte transversal. Avaliaram-se 67 lactentes (21 PIG e 46 AIG) no terceiro mês de vida. Portadores de síndromes genéticas, malformações congênitas, infecções congênitas e aqueles que necessitaram de unidade de terapia intensiva neonatal foram excluídos. As Escalas Bayley II de Desenvolvimento Infantil foram utilizadas, com ênfase nos itens que avaliam as habilidades motoras finas. RESULTADOS: Não se observaram diferenças entre os grupos na escala motora (p=0,21) e mental (p=0,45) no terceiro mês de vida. No item "Alcança o Aro Suspenso", houve diferença significativa (teste Exato de Fisher; p=0,02), demonstrando maior frequência de execução para o grupo PIG no terceiro mês de vida. CONCLUSÕES: Supõe-se que a diferença encontrada no item "Alcança o Aro Suspenso" possa ser atribuída à grande ocorrência de movimentos dos braços observada no grupo PIG e não a uma condição melhor de desenvolvimento desse grupo.

OBJECTIVE: To compare the fine motor skills of full-term small-for-gestational-age (SGA) and appropriate-for-gestational-age (AGA) infants in the third month of life. METHODS: This observational cross-sectional study enrolled 67 infants (21 SGA and 46 AGA) in the third month of life. Infants presenting genetic syndromes, congenital malformations, congenital infections and those who needed neonatal intensive care were excluded. The Bayley Scales of Infant Development-II were used, with emphasis on items that evaluate the fine motor skills. RESULTS: No differences were observed between groups for motor (p=0.21) and mental (p=0.45) scales in the third month. There was a significant difference between the groups on the item "Reaches for Suspended Ring" (Fisher's exact test; p-value=0.02): a higher percentage of SGA infants accomplished this item in the third month of life. CONCLUSIONS: We hypothesize that the difference found in the item "Reaches for Suspended Ring" could be attributed to an increased frequency of arm movements observed in SGA infants and not to a better neurodevelopment of this group.

OBJETIVO: Comparar las habilidades motoras finas de lactantes nacidos a término pequeños para la edad gestacional (PEG) con adecuados para la edad gestacional (AEG) en el 3er mes de vida. MÉTODOS: Se realizó un estudio observacional de corte transversal. Se evaluaron a 67 lactantes (21 PEG y 46 AEG) en el 3er mes de vida. Síndromes genéticos, malformaciones congénitas, infecciones congénitas y aquellos que necesitaron de unidad de terapia intensiva neonatal fueron excluidos. Las Escalas Bayley II y de Desarrollo Infantil fueron utilizadas, con énfasis en los ítems que evalúan las habilidades motoras finas. RESULTADOS: No se observaron diferencias entre los grupos en la escala motora (p=0,21) y mental (p=0,45) en el 3er mes de vida. En el ítem "alcanza aro suspendido" hubo diferencia significativa (p=0,02; prueba Exacta de Fisher), demostrando mayor frecuencia de ejecución para el grupo PEG en el 3er mes de vida. CONCLUSIONES: Se supone que la diferencia encontrada en el ítem "alcanza el aro suspendido" pueda ser atribuida a la gran ocurrencia de movimientos de los brazos observada en el grupo PEG y no a una condición mejor de desarrollo en este grupo.

Motor performance of infants born small or appropriate for gestational age: a comparative study.

PURPOSE: To compare the motor performance of infants born small for gestational age (SGA) with those appropriate for gestational age (AGA) at 1, 2, 3, and 6 months. METHODS: A prospective cross-sectional study was conducted including infants born full-term, with birth weight under the 10th percentile for the SGA group and between the 10th and 90th percentiles for the AGA group. The Motor Scale of Bayley Scales of Infant Development-II was used to document motor performance. RESULTS: The SGA group presented a mean motor index score lower than the AGA group at 2 and 6 months, with the SGA group presenting fewer infants that successfully accomplished "makes crawling movements," "turns from side to back," "balances head," "sits alone momentarily," and "sits alone for 30 seconds." CONCLUSIONS: Data analysis suggested that infants who are SGA present greater risk of adverse outcomes that are detectable in motor performance measures at 2 months.

Agreement between scales for screening and diagnosis of motor development at 6 months.

OBJECTIVE: To ascertain the degree of agreement between a score for screening and another for diagnosis of motor development in 6-month old infants and to define the most appropriate cutoff point for screening. METHODS: A sectional study, enrolling asymptomatic full term newborns with gestational ages from 37 to 41 weeks, who were discharged from the maternity unit 2 days after birth and are resident in the Campinas area. Infants were excluded if they presented genetic syndromes, malformations, congenital infections, intensive care admission or low birth weight. The assessment instruments investigated were the Alberta Infant Motor Scale (AIMS) and the Bayley Scales of Infant Development II (BSID-II). Two cutoff points were evaluated for the AIMS, the 5th and 10th percentiles, and for the BSID-II infants were classified according to its motor index score (IS) as having inadequate (IS < 85, at least 1 standard deviation below the mean) or adequate performance (IS >or= 85, above the mean minus 1 standard deviation). RESULTS: The study sample comprised 43 infants. Six infants (14.00%) exhibited inadequate motor performance. Using the BSID-II motor classification and the 5th percentile AIMS cutoff, sensitivity was 100%, specificity 78.37%, accuracy 81.39%, kappa index 0.50 and p < 0.001; whereas, using the BSID-II motor classification and the 10th percentile AIMS cutoff, sensitivity was 100%, specificity 48.64%, accuracy 55.81%, kappa index 0.20 and p 0.025. CONCLUSIONS: The results suggest that concordance between the two 6-month assessment scales is good. The parameters employed are best combined using the 5th percentile AIMS cutoff point.

Agreement between scales for screening and diagnosis of motor development at 6 months

OBJETIVO: Verificar o grau de concordância entre uma escala de triagem e uma de diagnóstico do desenvolvimento motor de lactentes no sexto mês de vida, estabelecendo o ponto de corte mais apropriado para triagem. MÉTODOS: Estudo seccional, incluindo recém-nascidos a termo, com idade gestacional entre 37 e 41 semanas, assintomáticos, que receberam alta da maternidade 2 dias após o nascimento, residentes na região de Campinas. Foram excluídas síndromes genéticas, malformações, infecções congênitas, internações em unidade de terapia intensiva e baixo peso ao nascimento. Os instrumentos de avaliação foram: Alberta Infant Motor Scale (AIMS) e Bayley Scales of Infant Development II (BSID-II). Para a AIMS, foram utilizados dois pontos de corte, percentil 5 ou 10 e, para as BSID-II, foi utilizada a classificação dos lactentes na escala motora conforme a pontuação do index score (IS): desempenho inadequado (IS < 85, abaixo de menos 1 desvio padrão da média) ou desempenho adequado (IS > 85, maior ou igual a menos 1 desvio padrão da média). RESULTADOS: A amostra foi constituída por 43 lactentes. Seis lactentes (14,00 por cento) apresentaram desempenho motor inadequado. Considerando a classificação motora das BSID-II e o percentil 5 da AIMS, obteve-se sensibilidade = 100 por cento, especificidade = 78,37 por cento, acurácia = 81,39 por cento, índice kappa = 0,50 e p < 0,001; considerando a classificação motora das BSID-II e o percentil 10 da AIMS, obteve-se sensibilidade = 100 por cento, especificidade = 48,64 por cento, acurácia = 55,81 por cento, índice kappa = 0,20 e p = 0,025. CONCLUSÕES: Os resultados sugerem boa concordância entre os instrumentos de avaliação no sexto mês. A melhor combinação para os parâmetros analisados é a utilização do percentil 5 da AIMS.

OBJECTIVE: To ascertain the degree of agreement between a score for screening and another for diagnosis of motor development in 6-month old infants and to define the most appropriate cutoff point for screening. METHODS: A sectional study, enrolling asymptomatic full term newborns with gestational ages from 37 to 41 weeks, who were discharged from the maternity unit 2 days after birth and are resident in the Campinas area. Infants were excluded if they presented genetic syndromes, malformations, congenital infections, intensive care admission or low birth weight. The assessment instruments investigated were the Alberta Infant Motor Scale (AIMS) and the Bayley Scales of Infant Development II (BSID-II). Two cutoff points were evaluated for the AIMS, the 5th and 10th percentiles, and for the BSID-II infants were classified according to its motor index score (IS) as having inadequate (IS < 85, at least 1 standard deviation below the mean) or adequate performance (IS > 85, above the mean minus 1 standard deviation). RESULTS: The study sample comprised 43 infants. Six infants (14.00 percent) exhibited inadequate motor performance. Using the BSID-II motor classification and the 5th percentile AIMS cutoff, sensitivity was 100 percent, specificity 78.37 percent, accuracy 81.39 percent, kappa index 0.50 and p < 0.001; whereas, using the BSID-II motor classification and the 10th percentile AIMS cutoff, sensitivity was 100 percent, specificity 48.64 percent, accuracy 55.81 percent, kappa index 0.20 and p 0.025. CONCLUSIONS: The results suggest that concordance between the two 6-month assessment scales is good. The parameters employed are best combined using the 5th percentile AIMS cutoff point.

[Neurodevelopment of full-term small-for-gestational age infants in the second month of life]. / Neurodesenvolvimento de lactentes nascidos a termo pequenos para a idade gestacional no segundo mês de vida.

The objective of the present study was to assess and to compare the neurodevelopment of full-term adequate (AGA) or small-for-gestational age (SGA) infants in the second month of life. Sixty-seven infants were evaluated: 43 AGA and 24 SGA, making use of the Bayley Scales of Infant Development. The SGA group Index Score (IS) was significantly lower in Mental and Motor Scales. Considering the body proportionality (Asymmetric, Symmetric-SGA and Control group) there was difference in Motor Scale (p=0.003) with lower scores in the Symmetric-SGA group. Comparing to the Control group IS percentiles, in Mental Scale there was difference between Asymmetric X Symmetric-SGA; in Motor Scale, there was difference between the Asymmetric X Control (p=0.039) and Symmetric-SGA X Control (p=0.007) groups; there was no difference between Asymmetric and Symmetric-SGA although both exhibited lower scores than the Control group.

Neurodesenvolvimento de lactentes nascidos a termo pequenos para a idade gestacional no segundo mês de vida / Neurodevelopment of full-term small-for-gestacional age infants in the second month of life

O objetivo deste estudo foi avaliar e comparar o neurodesenvolvimento de lactentes nascidos a termo, com peso adequado (AIG) ou pequeno para a idade gestacional (PIG), no 2° mês de vida. Avaliaram-se 67 lactentes: 43 AIG e 24 PIG, utilizando as Bayley Scales of Infant Development. O Index Score (IS) nas Escalas Mental e Motora foi significativamente menor no grupo PIG. Considerando a proporcionalidade corporal (Grupos Controle, Assimétrico e PIG-Simétrico), houve diferença significativa na Escala Motora (p=0,003), com menores pontuações no grupo PIG-Simétrico. Comparados aos percentis de IS do grupo Controle, na Escala Mental, houve diferença entre os grupos Assimétrico X PIG-Simétrico; na Escala Motora, houve diferença entre os grupos Assimétrico X Controle (p=0,039) e PIG-Simétrico X Controle (p=0,0007); não houve diferença entre os grupos Assimétrico e PIG-Simétrico, ambos apresentando menores pontuações que o grupo Controle.

Classificação do recém-nascido e implicações clínicas no desenvolvimento neurológico: aspectos relacionados ao peso ao nascimento / Classification of the neonate and clinical implications on the neurological development: birth weight aspects

O lactente nascido pequeno para a idade gestacional tem sido alvo de pesquisas sobre desenvolvimento por ser considerado um modelo de desnutrição em idade mais precoce. A preocupação com o seu desenvolvimento esta fundamentada nos resultados encontrados em experimentos com animais submetidos a desnutrição intra-uterina que demonstraram diminuição no número de células do sistema nervoso central, das décadas de 1960 e 70. A interpretação dos dados e sua relação com morbidade neurológica, portanto, dependem da classificação correta quanto a nutrição. Esta revisão de literatura tem como objetivo analisar aspectos relacionados a classificação de recém-nascidos quanto ao peso ao nascimento e as implicações clínicas no âmbito do desenvolvimento neurológico.

The small for gestational age infants have been subject of many researches about development, being considered as a model for earlier malnutrition. The concern about their development is based on the results of experiences during the 1960' and 70' in animals submitted to intrauterine malnutrition which showed reduction of the number of central nervous system cell. Therefore, data analysis and the relation to some neurological morbidity depend upon a correct classification about nutrition. The objective of this review is to analyze aspects of the newborns' classification concerning birth weight and its clinical implications on the neurological development.