DESMISTIFYING SKELETAL DYSPLASIAS: A PRACTICAL APPROACH FOR THE PEDIATRIC ENDOCRINOLOGIST.

BACKGROUND: Skeletal dysplasias encompass a group of genetic conditions associated with cartilaginous and bone tissue abnormalities, exhibiting a variable phenotype depending on the involved genes and mechanisms. Differential diagnosis is challenging as there are many skeletal dysplasias with similar phenotypes. SUMMARY: In this review, we describe the physiology of skeletal development and the classification of skeletal dysplasias, followed by a practical approach to the workup of a child with suspected skeletal dysplasia. Diagnosis requires clinical, laboratory, and radiological evaluation to differentiate potential conditions in the patient. Genotyping has emerged as a confirmatory tool in many cases, enabling personalized treatment through a multidisciplinary approach and assessment of associated comorbidities. KEY MESSAGES: As skeletal dysplasias often present with short stature, proportionate or disproportionate, the pediatric endocrinologist plays a crucial role in initial investigative and diagnostic guidance. Identifying the critical clinical manifestations, conducting appropriate initial screening tests, and referring for multidisciplinary follow-up contribute to expeditious diagnosis and family support.

Evidence of changes in the oral language in children born full-term and small for gestational age: a systematic review.

OBJECTIVE: To perform a systematic review in order to verify the association between full-term birth of small for gestational age (SGA) children and the outcomes in the development of oral language.Data source:Articles from MEDLINE/PubMed, Web of Science, Embase, Lilacs, SciELO and Cochrane Library databases were identified, selected and critically evaluated by two independent reviewers and a judge, blindly, without language restriction and publication period. The PRISMA tool was used, and original studies with a theme involving children born full-term and SGA were included, outcome related to aspects of oral language development, as well as the use of tests, scales and/or specific questionnaires for the investigation, whose methodology was described in full, with children as the target population.Data synthesis:The researchers included nine articles based on the eligibility criteria. Studies have shown that being born SGA can interfere in aspects related to language and reported greater chances of under performance in SGA children when compared to children with appropriate size for gestational age. It was observed that the different studies did not have a uniform design, and the objectives were quite diverse. Furthermore, few of them had as focus issues related to the assessment of language, as well as the variability of instruments used to investigate this domain. CONCLUSIONS: The effects of low weight for gestation age in full-term infants continue beyond the neonatal period and may impact on children's performance, mainly with regard to oral language development.

Congenital Hypothyroidism and the Deleterious Effects on Auditory Function and Language Skills: A Narrative Review.

Congenital hypothyroidism (CH) is an endocrine disease commonly found in newborns and is related to the absence or reduction of thyroid hormones (THs), which are essential for development since intrauterine life. Children with CH can develop hearing problems as THs are crucial for the auditory pathway's development and maturation. Sensory deprivations, especially in hearing disorders at early ages of development, can impair language skills, literacy, and behavioral, cognitive, social, and psychosocial development. In this review we describe clinical and molecular aspects linking CH and hearing loss.

ADHESION TO TREATMENT BY CHILDREN WITH CONGENITAL HYPOTHYROIDISM: KNOWLEDGE OF CAREGIVERS IN BAHIA STATE, BRAZIL.

OBJECTIVE: To investigate knowledge of caregivers of children with congenital hypothyroidism (CH), followed in a public reference service, as well as their associations with treatment adherence. METHODS: Exploratory, descriptive, cross-sectional study with convenience sample. Medical records of 158 patients diagnosed with congenital hypothyroidism were analyzed, and data were evaluated by applying a previously prepared questionnaire to caregivers from 2014 to 2016. Statistical analysis used the chi-square and the Spearman's correlation tests, being significant p-value ≤0.05. RESULTS: Females were predominant among caregivers (94.3%), with a mean age of 31 years, from inland cities (77.8%). There was a predominance of socioeconomic class C (59.5%) and incomplete primary education (35.7%). More than half of patients (53.2%) with CH had an adequate hormonal control. Approximately one third of caregivers had poor knowledge (37.3%) or was unaware (24.1%) about the meaning of congenital hypothyroidism. The low knowledge level of the disease was observed to be related to caregivers' educational level (p=0.004). CONCLUSIONS: Lack of education of caregivers was a barrier to be faced when monitoring children with CH. This reality requires greater attention from health professionals to ensure that they use clear language when giving instructions to caregivers, and that caregivers have adequately understood the proposed recommendations.

Phonological productive processes in full-term schoolchildren and small for gestational age: a case-control study. / Processos fonológicos produtivos em escolares nascidos a termo e pequenos para a idade gestacional: estudo caso-controle.

PURPOSE: To characterize the use of phonological productive processes in a group of full-term children and small for gestational age and compare it with children appropriate for gestational age. METHODS: Observational, analytical, case-control and non-paired study, nested in a cohort with the outcome of phonological disorder. We assessed 36 children according to the predetermined sample calculation, 24 (66.7%) without phonological disorders and 12 (33.3%) with phonological disorders. Of these, 24 (66.7%) children were classified as small for gestational age (SGA) and 12 (33%) as appropriate for gestational age (AGA). Phonological aspects of oral language were assessed by the ABFW children's language test (2004). The results were subjected to descriptive analysis and, in order to assess the existence of an association among categorical variables, we used Fisher's exact test for association. RESULTS: The SGA group revealed a significantly higher number of phonological processes that change the syllable structure when compared to the AGA group. We noted that the phonological processes present and unexpected for age in the SGA population were: fricative plosivation, liquid simplification, palatal posteriorization and frontalization, plosive and fricative deafening, in addition to simplifying the consonant cluster and simplifying the final consonant, which were the most frequent in both groups. CONCLUSION: Although no association was found between phonological disorders and SGA children, we have noted a greater use of productive phonological processes in this group.

OBJETIVO: Caracterizar o uso de processos fonológicos produtivos no grupo de crianças nascidas a termo e pequenas para a idade gestacional e compará-lo com crianças adequadas para a idade gestacional. MÉTODO: Estudo observacional, analítico, do tipo caso-controle, não pareado, aninhado a uma coorte com o desfecho alteração fonológica. Foram avaliadas 36 crianças de acordo com o cálculo amostral pré-estabelecido, sendo 24(66,7%) sem alterações fonológicas e 12(33,3) com alteração fonológica. Dessas, 24(66,7%) crianças foram classificadas como pequeno para a idade gestacional (PIG) e 12(33%), como adequada para a idade gestacional (AIG). Os aspectos fonológicos da linguagem oral foram avaliados pelo teste de linguagem infantil ABFW (2004). Os resultados foram submetidos à análise descritiva e a fim de avaliar a existência de associação entre as variáveis categóricas, foi utilizado o teste exato de Fisher de associação. RESULTADOS: O grupo PIG apresentou significativamente maior número de processos fonológicos que alteram a estrutura da sílaba quando comparado ao grupo AIG. Observou-se que os processos fonológicos presentes e não esperados para idade na população PIG foram: plosivação de fricativa, simplificação de líquidas, posteriorização e frontalização de palatal, ensurdecimento de plosivas e fricativas, além da simplificação do encontro consonantal e simplificação de consoante final, que foram os de maior ocorrência em ambos os grupos. CONCLUSÃO: Embora não tenha sido encontrada associação entre alterações fonológicas e crianças PIG, observou-se maior uso de processos fonológicos produtivos neste grupo.

Cardiometabolic evaluation of small for gestational age children: protective effect of breast milk.

INTRODUCTION: Introduction: human growth is the result of an interaction between genetic, hormonal, nutritional, and environmental factors. It is not yet fully understood what is predominant and decisive in determining an individual's weight and height. Objective: the aim of this study was to evaluate the cardiometabolic profile of exclusively breastfed children born small for gestational age (SGA). Methods: this is a prospective cohort study of children born at term who were classified as SGA, and as appropiate for gestational age (AGA), who were followed up to pre-school age. Anthropometric measures and body composition parameters were obtained. Breastfeeding duration was calculated in days, and achievement of catch up of weight was considered an increase in Z-score ≥ 0.67. The cardiometabolic profile was evaluated in the first month of life and repeated at pre-school age. At pre-school age, fasting blood glucose, insulin, HOMA-IR, and blood pressure were measured. Results: twenty SGA and 12 AGA children were studied. The mean duration of exclusive breastfeeding (EBF) was 180 days in both groups. Of SGA children, 85 % had recovery anthropometric parameters for age within the first six months, with a speed of weight gain significantly higher than the that of AGAs (p < 0.001). SGAs continued to be thinner and smaller than AGAs at pre-school age. There was no diagnosis of overweight or obesity in the studied sample, and no differences were foun between groups in laboratory tests. Conclusion: these findings suggest that EBF may confer protection until pre-school age in children born SGA, who are considered at higher risk for chronic non-communicable diseases.

INTRODUCCIÓN: Introducción: el crecimiento humano es el resultado de la interacción de factores genéticos, hormonales, nutricionales y ambientales. Todavía no se comprende completamente lo que es predominante y decisivo para determinar el peso y la altura del individuo. Objetivo: el objetivo de este estudio fue evaluar el perfil cardiometabólico de niños alimentados con lactancia materna exclusivamente y que nacieron pequeños para la edad gestacional (PEG). Métodos: este es un estudio de cohortes prospectivo con niños nacidos a término, unos clasificados como PEG y otros como apropiados para la edad gestacional (AEG). Se hizo un seguimiento de estos niños hasta la edad preescolar. Se realizaron medidas antropométricas y de la composición corporal. La duración de la lactancia materna se calculó en días y el éxito en la recuperación del peso se consideró como un aumento de la puntuación Z ≥ 0,67. El perfil cardiometabólico se evaluó en el primer mes de vida y se repitió en la edad preescolar. En la edad preescolar se midieron la glucosa en sangre en ayunas, la insulina, el HOMA-IR y la presión arterial. Resultados: el grupo del estudio estaba formado por veinte niños PEG y doce niños AEG. La duración media de la lactancia materna exclusiva (LME) fue de 180 días en ambos grupos. De los niños PEG, el 85 % tenían parámetros antropométricos de recuperación para la edad en los primeros seis meses, siendo la velocidad del aumento de peso significativamente mayor que en los AEG (p < 0,001). Aun así, los niños PEG continuaron siendo más delgados y pequeños que los AEG en la edad preescolar. No hubo diagnóstico de sobrepeso u obesidad en la muestra estudiada, y no hay diferencia entre los grupos relativos a las pruebas de laboratorio. Conclusión: estos hallazgos sugieren que la LME puede conferir protección hasta la edad preescolar en los niños nacidos PEG, que se consideran en mayor riesgo de contraer enfermedades crónicas no transmisibles.

Influence of socioeconomic and psychological factors in glycemic control in young children with type 1 diabetes mellitus.

OBJECTIVE: To evaluate the influence of socioeconomic and psychological factors on glycemic control in young children with type 1 diabetes mellitus. METHODS: This was a cross-sectional study assessing prepubertal children with type 1 diabetes mellitus. The authors analyzed the socioeconomic status using the Brazil Economic Classification Criterion (Critério de Classificação Econômica Brasil [CCEB]) and psychological conditions through the Brazilian version of the Problem Areas in Diabetes, associated with glycemic control, measured by glycated hemoglobin (HbA1c). Descriptive analysis was used. The variables were assessed by bivariate and multivariate robust Poisson regression model, as well as Fisher's exact and Pearson's chi-squared tests to obtain the ratios of gross and adjusted prevalence ratio, with confidence interval being estimated at 95%. RESULTS: A total of 68 children with type 1 diabetes mellitus were included in the study. A negative association between glycemic control (glycated hemoglobin levels), socioeconomic status (Brazil Economic Classification Criterion), and psychological condition (Brazilian version of the Problem Areas in Diabetes) was observed. Among the study participants, 73.5% (n=50) of the children had an unfavorable socioeconomic status; these participants were 1.4 times more likely to present altered glycated hemoglobin values. In relation to individuals with compromised psychological status, 26 (38.2%) had a score above 70, thus being classified with psychological stress; these children were 1.68 times more likely (95% confidence interval: 1.101, 1.301) to have higher glycated hemoglobin levels. CONCLUSIONS: The socioeconomic conditions and psychological characteristics of the study participants were negatively associated with glycated hemoglobin results. These data reinforce the importance of the studied variables as predictors of glycemic control.

Relationship between bullying and type 1 diabetes mellitus in children and adolescents: a systematic review.

OBJECTIVE: To carry out a systematic review on the relationship of bullying with type 1 diabetes in children and adolescents. METHODS: Systematic review, according to the PRISMA methodology, in which the databases PubMed, Web of Science, Scopus, Thomson Reuters, Eighteenth Century Collections Online, Begell House Digital Library, LILACS, and SciELO were searched using the terms "bullied", "aggression", "peer victimization", "victimization", "school violence", "diabetes mellitus", "type 1 diabetes mellitus", "autoimmune diabetes", "children" and "adolescents." The authors included original studies, involving bullying associated with type 1 diabetes, with children and adolescents, without language restriction and publication period, with texts available in full. RESULTS: Of the 32 articles found, four studies met the selection criteria. Of these studies 85.7% identified occurrence of victimization in diabetics or found a higher frequency in diabetic children and adolescents when compared with young people with other chronic conditions or with healthy peers. Association between bullying and worse glycemic control was observed in two studies, and all the studies mention the fact that type 1 diabetes is a limiting factor for socialization related to diabetes, with less social support and difficulties for the management of the disease in public environments, such as school. The type of bullying suffered varied, including physical, verbal, social, psychological, and sexual. CONCLUSION: Most of the studies showed an association between bullying and type 1 diabetes when compared to individuals with no such condition. Knowledge of this association has become essential for the follow-up of these patients and the implementation of preventive programs.

Cochlear dysfunction evidenced by reduction of amplitude of otoacoustic responses in patients with congenital hypothyroidism.

INTRODUCTION: The investigation of amplitudes of otoacoustic emissions in congenital hypothyroidism can provide information on cochlear function with more sensibility, when compared to other methods of auditory evaluation. AIM: To investigate cochlear function through the amplitude of distortion product otoacoustic emissions in individuals with congenital hypothyroidism and to correlate with clinical aspects. METHODS: An exploratory, analytical, cross-sectional study with a convenience sample, composed of 50 individuals with congenital hypothyroidism and a group of 42 individuals without the disease, mean age of 8.4 (±3.1) years. The subjects of the research were evaluated by means of tonal and speech audiometry, immittance and distortion product otoacoustic emissions (DPOAEs). Continuous variables were described as mean or median and standard deviation. The Spearman test evaluated the correlations between the variables. RESULTS: Otoacoustic emission amplitudes were significantly reduced in the exposed group, with congenital hypothyroidism, when compared to the group of individuals without the disease, especially in the medium frequencies. The Spearman test showed a slight correlation between the amplitude values of the otoacoustic emissions of some frequencies and the variables: disease time, diagnostic age, irregular serum free thyroxine hormone levels and thyroid stimulating hormone, especially in the condition of less treatment, whose correlation was negative. CONCLUSION: There was a correlation between the levels of signal amplitudes of otoacoustic emissions with clinical conditions and hormonal follow-up, suggesting probable subclinical auditory impairment in this population, as well as influence of some clinical aspects of congenital hypothyroidism on auditory function.

Breastfeeding in children born small for gestational age and future nutritional and metabolic outcomes: a systematic review.

OBJECTIVE: To systematically review evidence related to nutritional and cardiometabolic outcomes in children born at term and small for gestational age and the association with breastfeeding. SOURCE OF DATA: Two independent reviewers searched the MEDLINE, LILACS, SciELO, and Embase databases without time or language restrictions. The PRISMA tool was used, and studies that evaluated infants born at term and small for gestational age, breastfed, and with an evaluation of cardiometabolic outcomes were included. Studies with preterm infants, those that did not have information on breastfeeding, and those with lack of evaluation of the outcome variables were excluded. Also excluded were review articles, editorials, and series of cases. SUMMARY OF DATA: Only seven articles were found that met the abovementioned criteria. There was a great variability in the type of evaluation, as well as in the age of these children. It was demonstrated that breastfeeding promoted growth without body composition alteration and without increased insulin resistance in children with exclusive breastfeeding, when compared to children receiving a higher calorie formula, except for one article that observed an increase in fat mass in exclusively breastfed children. CONCLUSION: Breastfeeding seems to be a safe feeding practice for infants born at term and small for gestational age, showing no association with deleterious short-term outcomes. Breastfeeding stimulation in these populations seems to be a way of preventing the health problems associated with the high risk of chronic noncommunicable diseases and obesity.

Glucose alteration and insulin resistance in asymptomatic obese children and adolescents.

OBJECTIVE: Obesity is associated with the abnormal glucose metabolism preceding type 2 diabetes mellitus. Thus, further investigation on the prediction of this lethal outcome must be sought. The objective was the profile glycemic assessment of asymptomatic obese children and adolescents from Salvador, Brazil. METHOD: A fasting venous blood sample was obtained from 90 consecutive obese individuals aged 8-18 years, of both sexes, for laboratory determinations of glycated hemoglobin, basal insulin, and the Homeostasis Model Assessment Insulin Resistance index. The clinical evaluation included weight, height, waist circumference, assessment of pubertal development, and acanthosis nigricans research. The body mass index/age indicator was used for the severity of overweight assessment. RESULTS: Glycemic alterations were evidenced clinically and biochemically, although these individuals had no complaints or symptoms related to blood sugar levels. Quantitative and qualitative variables were respectively expressed measures of central tendency/dispersion and simple/relative frequency, using the SPSS, version 20.0. A p-value <0.05 was considered significant. CONCLUSION: Notably, this study found a high prevalence of glucose and insulin disorders in asymptomatic obese children and adolescents.

Inflammatory cytokines and non-alcoholic fatty liver disease (NAFLD) in obese children and adolescents.

INTRODUCTION: Non-alcoholic fatty liver disease is characterized by the intrahepatic deposition of fat. It is the most prevalent liver disease in the world, affecting obese children and adolescents. Its pathophysiology is not fully understood, although it is often related to insulin resistance. This in turn would be due to an inflammatory condition common to obesity. Thus, the objective of this study was to describe the behavior of proinflammatory cytokines in obese children and adolescents, with and without non-alcoholic fatty liver disease. METHOD: A fasting venous blood sample was obtained of consecutive 90 obese individuals aged 8-18 years, of both sexes, for laboratory determinations of glycaemia, basal insulin and homeostasis model assessment insulin-resistance index, and the inflammatory markers tumor necrosis factor-alpha (TNF-α), interleukins 2 and 6 (IL-2 and IL-6), interferon-gamma and high sensitive C-reactive protein. The clinical evaluation included weight, height and waist circumference. We used the body mass index/age indicator for the severity of overweight assessment. The degrees of steatosis were determined by ultrasonography. Quantitative and qualitative variables were respectively expressed by measures of central tendency/dispersion and simple/relative frequency, using Statistical Program for Social Sciences, version 20.0. A p-value < 0.05 was considered as significant. RESULTS: A total of 90 individuals were studied, with a mean age of 11.98 (2.72) years, of which 48 (53%) were male. The body mass index (BMI) for age (BMI/i) and sex (z-score) classified 38 (42.2%) participants as obese and 52 (57.7%) as severe obese; Hepatic steatosis was identified in 56 (62.2%) participants and approximately 90% of them presented grade I steatosis. The inflammatory markers TNF-α, and C-reactive protein were increased in the studied sample and correlated in a positive and statistically significant way with the index of body mass/age and sex. CONCLUSION: Hepatic steatosis was prevalent in the group of children and adolescents studied, but was not related to obesity degrees.

Processos fonológicos produtivos em escolares nascidos a termo e pequenos para a idade gestacional: estudo caso-controle / Phonological productive processes in full-term schoolchildren and small for gestational age: a case-control study

RESUMO Objetivo Caracterizar o uso de processos fonológicos produtivos no grupo de crianças nascidas a termo e pequenas para a idade gestacional e compará-lo com crianças adequadas para a idade gestacional. Método Estudo observacional, analítico, do tipo caso-controle, não pareado, aninhado a uma coorte com o desfecho alteração fonológica. Foram avaliadas 36 crianças de acordo com o cálculo amostral pré-estabelecido, sendo 24(66,7%) sem alterações fonológicas e 12(33,3) com alteração fonológica. Dessas, 24(66,7%) crianças foram classificadas como pequeno para a idade gestacional (PIG) e 12(33%), como adequada para a idade gestacional (AIG). Os aspectos fonológicos da linguagem oral foram avaliados pelo teste de linguagem infantil ABFW (2004). Os resultados foram submetidos à análise descritiva e a fim de avaliar a existência de associação entre as variáveis categóricas, foi utilizado o teste exato de Fisher de associação. Resultados O grupo PIG apresentou significativamente maior número de processos fonológicos que alteram a estrutura da sílaba quando comparado ao grupo AIG. Observou-se que os processos fonológicos presentes e não esperados para idade na população PIG foram: plosivação de fricativa, simplificação de líquidas, posteriorização e frontalização de palatal, ensurdecimento de plosivas e fricativas, além da simplificação do encontro consonantal e simplificação de consoante final, que foram os de maior ocorrência em ambos os grupos. Conclusão Embora não tenha sido encontrada associação entre alterações fonológicas e crianças PIG, observou-se maior uso de processos fonológicos produtivos neste grupo.

ABSTRACT Purpose To characterize the use of phonological productive processes in a group of full-term children and small for gestational age and compare it with children appropriate for gestational age. Methods Observational, analytical, case-control and non-paired study, nested in a cohort with the outcome of phonological disorder. We assessed 36 children according to the predetermined sample calculation, 24 (66.7%) without phonological disorders and 12 (33.3%) with phonological disorders. Of these, 24 (66.7%) children were classified as small for gestational age (SGA) and 12 (33%) as appropriate for gestational age (AGA). Phonological aspects of oral language were assessed by the ABFW children's language test (2004). The results were subjected to descriptive analysis and, in order to assess the existence of an association among categorical variables, we used Fisher's exact test for association. Results The SGA group revealed a significantly higher number of phonological processes that change the syllable structure when compared to the AGA group. We noted that the phonological processes present and unexpected for age in the SGA population were: fricative plosivation, liquid simplification, palatal posteriorization and frontalization, plosive and fricative deafening, in addition to simplifying the consonant cluster and simplifying the final consonant, which were the most frequent in both groups. Conclusion Although no association was found between phonological disorders and SGA children, we have noted a greater use of productive phonological processes in this group.

Evidence of changes in the oral language in children born full-term and small for gestational age: a systematic review / Evidências de alterações na linguagem oral de crianças nascidas a termo pequenas para a idade gestacional: uma revisão sistemática

Abstract Objective: To perform a systematic review in order to verify the association between full-term birth of small for gestational age (SGA) children and the outcomes in the development of oral language. Data source: Articles from MEDLINE/PubMed, Web of Science, Embase, Lilacs, SciELO and Cochrane Library databases were identified, selected and critically evaluated by two independent reviewers and a judge, blindly, without language restriction and publication period. The PRISMA tool was used, and original studies with a theme involving children born full-term and SGA were included, outcome related to aspects of oral language development, as well as the use of tests, scales and/or specific questionnaires for the investigation, whose methodology was described in full, with children as the target population. Data synthesis: The researchers included nine articles based on the eligibility criteria. Studies have shown that being born SGA can interfere in aspects related to language and reported greater chances of under performance in SGA children when compared to children with appropriate size for gestational age. It was observed that the different studies did not have a uniform design, and the objectives were quite diverse. Furthermore, few of them had as focus issues related to the assessment of language, as well as the variability of instruments used to investigate this domain. Conclusions: The effects of low weight for gestation age in full-term infants continue beyond the neonatal period and may impact on children's performance, mainly with regard to oral language development.

Resumo Objetivo: Realizar uma revisão sistemática para verificar a associação entre o nascimento a termo de crianças pequenas para a idade gestacional (PIG) e os desfechos no desenvolvimento da linguagem oral. Fontes de dados: Artigos dos bancos de dados MEDLINE/PubMed, Web of Science, Embase, LILACS, SciELO e Cochrane Library foram identificados, selecionados e avaliados criticamente por dois revisores independentes e um juiz, às cegas, sem restrições de idioma e período de publicação. A ferramenta PRISMA foi utilizada e foram incluídos estudos originais envolvendo crianças nascidas a termo e PIG, desfechos relacionados a aspectos do desenvolvimento da linguagem oral, bem como o uso de testes, escalas e/ou questionários específicos para a investigação, cuja metodologia estava descrita na íntegra, com crianças como população-alvo. Síntese dos dados: Nove artigos foram incluídos a partir dos critérios de elegibilidade. Os estudos demonstraram que nascer PIG pode interferir em aspectos relacionados à linguagem e relataram que as chances de crianças PIG apresentarem um desempenho inferior são maiores quando comparadas as com tamanho adequado para a idade gestacional. Observou-se que os diferentes estudos não tinham um delineamento uniforme e seus objetivos eram bastante diversificados. Além disso, poucos focavam em questões relacionadas à avaliação da linguagem e foi possível notar uma variabilidade de instrumentos utilizados para investigar esse domínio. Conclusões: Os efeitos do baixo peso ao nascer em nascidos a termo persistem além do período neonatal e podem ter impacto no desempenho infantil, principalmente no que se refere ao desenvolvimento da linguagem oral.

Mechanisms involved in hearing disorders of thyroid ontogeny: a literature review.

Endocochlear, retrocochlear and/or central origin hearing damage may be related to the absence of appropriate levels of thyroid hormone during morphogenesis and/or auditory system development. Hearing disorders related to the thyroid are not well studied, despite speculation on the pathophysiological mechanisms. The objective of this review was to characterize the main pathophysiological mechanisms of congenital hypothyroidism and to evaluate the relationship with central and peripheral hearing disorders. We conducted a literature review using the databases MedLine, LILACS, Cochrane Library, SciELO, Institute for Scientific Information (ISI), Embase, and Science Direct between July and September on 2016. We identified the studies that address hearing disorder mechanisms on the congenital hypothyroidism. Congenital hypothyroidism may have clinical and subclinical manifestations that affect the auditory system and may be a potential risk factor for hearing impairment. Hearing impairment can severely impact quality-of-life, which emphasizes the importance of monitoring and evaluating hearing during the clinical routine of these patients.

Intergrowth versus fenton: há diferença no diagnóstico de retardo de crescimento extrauterino em prematuros durante internamento hospitalar? / Intergrowth versus fenton: is there a difference in the diagnosis of extrauterine growth retardation in preterm infants during hospitalization

Introdução: alterações no padrão de crescimento de recém-nascidos prematuros podem ter implicações para sua saúde futura. A literatura dispõe de diversas ferramentas e pontos de corte para avaliação da sua adequação, logo, diferentes diagnósticos podem ser obtidos a depender do parâmetro adotado. Objetivo: determinar a diferença no diagnóstico de Retardo de Crescimento Extrauterino em prematuros, durante internamento hospitalar, conforme as curvas de Fenton e Intergrowth. Metodologia: trata-se de estudo transversal, com dados secundários, coletados durante o internamento em unidade de terapia intensiva e de cuidados intermediários convencionais neonatais de uma maternidade pública, em 2019, Coletaram-se medidas de peso e perímetro cefálico ao nascer e no momento da alta/transferência e calcularam-se seus respectivos indicadores antropométricos de acordo com as duas curvas. Utilizaramse duas classificações para o Retardo: diagnóstico de Pequeno para Idade Gestacional na alta/transferência; queda no escore Z dos indicadores maior ou igual a 1 entre o nascimento e a alta/transferência. Resultados: Não houve diferença em relação ao número de crianças classificadas como Pequeno para Idade Gestacional ao nascer, entre as curvas. Porém, no momento da alta/transferência houve maior prevalência de Pequeno para a Idade Gestacional/Retardo de Crescimento Extrauterino, de acordo com Fenton (73,6% versus 64,9%). A análise longitudinal dos indicadores de crescimento para caracterização do referido retardo por meio da curva de Fenton também detectou maior número de diagnósticos. Conclusão: conclui-se que o diagnóstico do retardo apresentou diferenças entre os referenciais. Os parâmetros de Fenton determinaram maior ocorrência dele no momento do desfecho, independente da realização da avaliação transversal ou longitudinal dos indicadores.

Introduction: changes in growth pattern of preterm infants may have implications for their future health. Literature has several tools and cutoff points to assess its adequacy, therefore, different diagnosis may be obtained depending on the adopted parameter. Objective: determine the difference in diagnosis of extrauterine growth restriction (EUGR) in preterm infants during hospitalization based on Fenton 2013) and Intergrowth-21 (2014) curves. Methods: this is a cross-sectional study with secondary data which were collected during hospitalization in an intensive care unit and neonatal conventional intermediate care in a public maternity hospital, in 2019. Results: weight and head circumference measurements were collected at birth and at discharge/transfer and their respective anthropometric indicators were calculated according to Fenton and Intergrowth-21 curves. The following EUGR criteria were used: diagnosis of small for gestational age (SGA) at discharge/transfer; decrease in Z score for indicators higher or equal to 1 between birth and discharge/transfer. There was no difference in the number of children classified as SGA at birth between the curves. However, at the time of discharge/ transfer there was a higher prevalence of SGA/EUGR according to Fenton (73.6% versus 64.9%). Longitudinal analysis of growth indicators for EUGR using Fenton curve also detected a higher number of patients with EUGR. Conclusion: the conclusion is that EUGR diagnosis showed differences between Fenton and Intergrowth methods. Fenton's parameters determined a higher occurrence of EUGR at the time of outcome, regardless of whether indicators were cross-sectionally or longitudinally evaluated.

Adhesion to treatment by children with congenital hypothyroidism: knowledge of caregivers in bahia state, brazil / Adesão ao tratamento de crianças com hipotireoidismo congênito: o conhecimento dos cuidadores no estado da bahia, brasil

ABSTRACT Objective: To investigate knowledge of caregivers of children with congenital hypothyroidism (CH), followed in a public reference service, as well as their associations with treatment adherence. Methods: Exploratory, descriptive, cross-sectional study with convenience sample. Medical records of 158 patients diagnosed with congenital hypothyroidism were analyzed, and data were evaluated by applying a previously prepared questionnaire to caregivers from 2014 to 2016. Statistical analysis used the chi-square and the Spearman's correlation tests, being significant p-value ≤0.05. Results: Females were predominant among caregivers (94.3%), with a mean age of 31 years, from inland cities (77.8%). There was a predominance of socioeconomic class C (59.5%) and incomplete primary education (35.7%). More than half of patients (53.2%) with CH had an adequate hormonal control. Approximately one third of caregivers had poor knowledge (37.3%) or was unaware (24.1%) about the meaning of congenital hypothyroidism. The low knowledge level of the disease was observed to be related to caregivers' educational level (p=0.004). Conclusions: Lack of education of caregivers was a barrier to be faced when monitoring children with CH. This reality requires greater attention from health professionals to ensure that they use clear language when giving instructions to caregivers, and that caregivers have adequately understood the proposed recommendations.

RESUMO Objetivo: Investigar o conhecimento dos cuidadores das crianças com hipotireoidismo congênito (HC) acompanhadas em um serviço público de referência, bem como as suas associações com a adesão ao tratamento. Métodos: Trata-se de um estudo exploratório, descritivo, de corte transversal, com amostra de conveniência. Foram analisados os prontuários de 158 pacientes com diagnóstico de HC e avaliados os dados obtidos pela aplicação de um questionário previamente elaborado, destinado aos cuidadores, durante o período de 2014 a 2016. A análise estatística foi feita com o teste do qui-quadrado e a Correlação de Spearman, para correlacionar a pontuação do questionário, sendo significante o valor de p≤0,05. Resultados: Os cuidadores eram predominantemente do sexo feminino (94,3%), com média de idade de 31 anos, proveniente de cidades do interior (77,8%). Verificou-se predomínio da classe socioeconômica C (59,5%) e ensino fundamental incompleto (35,7%) na amostra dos cuidadores. Metade dos pacientes (53,2%) apresentava controle hormonal adequado. Aproximadamente 1/3 dos cuidadores demonstraram conhecimento ruim (37,3%) ou até mesmo desconheciam (24,1%) o HC. Observou-se que o baixo nível de conhecimento da doença estava diretamente relacionado com o nível educacional dos cuidadores (p=0,004). Conclusões: Os achados sugerem que a falta de instrução dos cuidadores é uma barreira a ser enfrentada durante o acompanhamento de crianças com HC, o que requer uma maior atenção do profissional de saúde, para garantir uma linguagem clara e um entendimento adequado das recomendações propostas.

Cardiometabolic evaluation of small for gestational age children: protective effect of breast milk / Evaluación cardiometabólica de niños pequeños para su edad gestacional: efecto protector de la leche materna

INTRODUCTION: human growth is the result of an interaction between genetic, hormonal, nutritional, and environmental factors. It is not yet fully understood what is predominant and decisive in determining an individual's weight and height. OBJECTIVE: the aim of this study was to evaluate the cardiometabolic profile of exclusively breastfed children born small for gestational age (SGA). METHODS: this is a prospective cohort study of children born at term who were classified as SGA, and as appropiate for gestational age (AGA), who were followed up to pre-school age. Anthropometric measures and body composition parameters were obtained. Breastfeeding duration was calculated in days, and achievement of catch up of weight was considered an increase in Z-score ≥ 0.67. The cardiometabolic profile was evaluated in the first month of life and repeated at pre-school age. At pre-school age, fasting blood glucose, insulin, HOMA-IR, and blood pressure were measured. RESULTS: twenty SGA and 12 AGA children were studied. The mean duration of exclusive breastfeeding (EBF) was 180 days in both groups. Of SGA children, 85 % had recovery anthropometric parameters for age within the first six months, with a speed of weight gain significantly higher than the that of AGAs (p < 0.001). SGAs continued to be thinner and smaller than AGAs at pre-school age. There was no diagnosis of overweight or obesity in the studied sample, and no differences were foun between groups in laboratory tests. CONCLUSION: these findings suggest that EBF may confer protection until pre-school age in children born SGA, who are considered at higher risk for chronic non-communicable diseases

INTRODUCCIÓN: el crecimiento humano es el resultado de la interacción de factores genéticos, hormonales, nutricionales y ambientales. Todavía no se comprende completamente lo que es predominante y decisivo para determinar el peso y la altura del individuo. OBJETIVO: el objetivo de este estudio fue evaluar el perfil cardiometabólico de niños alimentados con lactancia materna exclusivamente y que nacieron pequeños para la edad gestacional (PEG). MÉTODOS: este es un estudio de cohortes prospectivo con niños nacidos a término, unos clasificados como PEG y otros como apropiados para la edad gestacional (AEG). Se hizo un seguimiento de estos niños hasta la edad preescolar. Se realizaron medidas antropométricas y de la composición corporal. La duración de la lactancia materna se calculó en días y el éxito en la recuperación del peso se consideró como un aumento de la puntuación Z ≥ 0,67. El perfil cardiometabólico se evaluó en el primer mes de vida y se repitió en la edad preescolar. En la edad preescolar se midieron la glucosa en sangre en ayunas, la insulina, el HOMA-IR y la presión arterial. RESULTADOS: el grupo del estudio estaba formado por veinte niños PEG y doce niños AEG. La duración media de la lactancia materna exclusiva (LME) fue de 180 días en ambos grupos. De los niños PEG, el 85 % tenían parámetros antropométricos de recuperación para la edad en los primeros seis meses, siendo la velocidad del aumento de peso significativamente mayor que en los AEG (p < 0,001). Aun así, los niños PEG continuaron siendo más delgados y pequeños que los AEG en la edad preescolar. No hubo diagnóstico de sobrepeso u obesidad en la muestra estudiada, y no hay diferencia entre los grupos relativos a las pruebas de laboratorio. CONCLUSIÓN: estos hallazgos sugieren que la LME puede conferir protección hasta la edad preescolar en los niños nacidos PEG, que se consideran en mayor riesgo de contraer enfermedades crónicas no transmisibles

Queixas de tontura em indivíduos com hipotireoidismo congênito em idade escolar e suas implicações nas habilidades acadêmicas e comunicativas / Dizziness complaints in school-aged individuals with congenital hypothyroidism and the implications for academic and communication skills

Introdução: o hipotireoidismo congênito (HC) pode causar danos nas estruturas do sistema vestibular ocasionando sintomas de tontura que pode acarretar em implicações nas habilidades linguísticas e acadêmicas dos indivíduos. Objetivo: verificar a ocorrência de queixas de tontura em crianças com HC e as suas implicações nos aspectos comunicativos e desempenho acadêmico por meio de uma entrevista estruturada com os cuidadores. Metodologia: estudo exploratório de caráter descritivo, seccional, realizado no município de Salvador, sendo incluídos crianças de ambos os sexos, com diagnóstico de hipotireoidismo congênito e idade entre 5 a 10 anos. Os dados foram coletados entre 2014 a 2018 em um Serviço de Referência em Triagem Neonatal no Estado da Bahia. Para avaliar as variáveis qualitativas foi utilizado o teste qui-quadrado e para as variáveis quantitativas foi utilizado o teste t-student, adotando nível de significância de 5%. Resultados: os indivíduos com disgenesia apresentaram uma frequência de 64% de queixas relacionadas a tontura. Verificou-se uma frequência considerável de dificuldade nas competências de escrita e com perfil comunicativo de maior relevância para a habilidade de conversação por meio de frases curtas. Conclusão: os achados sugerem que a presença de queixas de tontura nos os indivíduos com HC pode predispor a insucessos nos aspectos acadêmicos e comunicativos.

Introduction: congenital hypothyroidism (CH) can damage the structures of the vestibular system, causing dizziness symptoms that can have implications for the linguistic and academic skills of individuals. Objective: to verify the occurrence of dizziness complaints in children with CH and its implications for communicative aspects and academic performance through a structured interview with caregivers. Methodology: an exploratory, descriptive, sectional study carried out in the city of Salvador, including children of both sexes, diagnosed with congenital hypothyroidism and aged between 5 and 10 years. Data were collected between 2014 and 2018 at a Neonatal Screening Reference Service in the State of Bahia. To assess qualitative variables, the chi-square test was used and for quantitative variables, the t-student test was used, adopting a significance level of 5%. Results: individuals with dysgenesis had a frequency of 64% of complaints related to dizziness. There was a considerable frequency of difficulty in writing skills and with a communicative profile of greater relevance to the ability to converse through short sentences. Conclusion: the findings suggest that the presence of complaints of dizziness in individuals with CH may predispose to failures in academic and communicative aspects.