Insights from European Reference Network for rare neurological disorders study surveys on diagnosis, treatment, and management of NKX2-1-related disorders.

BACKGROUND: NKX2-1-related disorder (NKX2-1-RD) is a rare disease characterized by a triad of primary hypothyroidism, neonatal respiratory distress, and neurological features, including chorea. OBJECTIVE: This study aimed to identify discrepancies in the management of NKX2-1-RD among European Union (EU) specialists. METHODS: The ERN-RND Chorea & Huntington disease group designed a survey to conduct a cross-sectional multicenter study on the management of NKX2-1-RD. Descriptive analysis was performed, and total responses are presented for each item. RESULTS: The study involved 23 experts from 13 EU countries with experience in evaluating hyperkinetic patients with NKX2-1-RD: 11 were adult specialists, and 12 were pediatric specialists. NKX2-1-RD diagnosis was made at different ages, with the most common initial symptoms being hypotonia and/or motor developmental delay (reported by 11 experts) and chorea (reported by 8 experts). Chorea involved various body parts and showed improvement as reported by 9 experts, stabilization by 12 experts, and worsening by 2 experts with age. The pharmacological treatment of chorea varied widely among the experts. Misdiagnosis was reported by 14 experts. NKX2-1 pathogenic variants or deletions were confirmed in >75 % of patients (reported by 12 experts). Pulmonary and endocrinology evaluations were requested by 7 and 12 experts, respectively. The management of psychiatric comorbidities also varied among the different experts. CONCLUSIONS: This study highlights the need for a clinical practice guideline for the management of NKX2-1-RD to ensure that patients across the EU receive consistent and appropriate care. Such a guideline would benefit both doctors and healthcare practitioners.

Atención sostenida en niños con hipotiroidismo congénito en edad escolar. Influencia de los episodios de sobretratamiento en los primeros 3 años de vida / Sustained attention in school-age children with congenital hypothyroidism: Influence of episodes of overtreatment in the first three years of life

INTRODUCCIÓN: Los niños con hipotiroidismo congénito (HC) están en riesgo de presentar déficit cognitivos sutiles, a pesar de tener un rendimiento intelectual global dentro de rangos normales. Estos déficits pueden ser consecuencia de condiciones inherentes a la enfermedad y a factores relacionados con el tratamiento. El presente estudio explora el efecto de las desviaciones del estado de eutiroidismo durante los primeros 3 años de vida en el rendimiento atencional durante la edad escolar. MÉTODOS: Fueron evaluados 49 niños con HC diagnosticado y bajo tratamiento, de ellos 14 fueron niños (9,5 ± 2,8 años de edad) y 35 niñas (9,6 ± 2,6 años de edad). Se calculó el total de episodios de sobre, infra y normotratamiento a partir de los valores de TSH durante los primeros 3 años de vida (medidos a los 12, 18, 24, 30 y 36 meses de edad). Los niños fueron evaluados mediante una versión computarizada del Test de atención sostenida. Se calcularon los modelos lineales generales usando el índice de atención como variable dependiente y el género, la etiología y los episodios de sobre, infra y normotratamiento como independientes. RESULTADOS: El número de episodios de sobretratamiento (TSH baja) se asoció a un peor rendimiento atencional en la edad escolar (p = 0,005, r = -0,45). CONCLUSIÓN: Debe realizarse un seguimiento estrecho en los 3 primeros años en pacientes con HC para evitar no solo el hipotiroidismo, sino también los efectos adversos de episodios de hipertratamiento que pueden comprometer el procesamiento atencional en edad escolar

INTRODUCTION: Children with congenital hypothyroidism (CH) are at risk of developing mild cognitive impairment despite normal overall intellectual performance. These deficits may be caused by disease-related and treatment-related factors. This study explores the impact of abnormal thyroid function during the first 3 years of life on attention performance at school age. METHODS: We included 49 children diagnosed with CH and receiving treatment for the condition: 14 boys (mean age 9.5 ± 2.8 years) and 35 girls (9.6 ± 2.6 years). The number of episodes of normal, under-, and overtreatment were estimated based on TSH levels during their first 3 years of life (at 12, 18, 24, 30, and 36 months). Children were assessed using a computerised version of a Sustained attention test. General linear models were calculated with the attention index as the dependent variable and sex, aetiology, and number of episodes of normal, under-, and overtreatment as independent variables. RESULTS: Higher numbers of episodes of overtreatment (low TSH level) were associated with poorer attention performance at school age (P = .005, r = -0.45). CONCLUSIONS: Children with CH should be monitored closely during the first 3 years of life in order to prevent not only hypothyroidism but also any adverse effects of overtreatment that may affect attentional function at school age

Técnica EXIT como manejo de la vía aérea en masas gigantes congénitas de cuello / Ex-Utero Intrapartum Treatment for airway management in congenital giant neck masses

Resumen: Introducción: Las masas congénitas de cabeza y cuello se asocian a asfixia perinatal e injuria cerebral con elevada mortalidad. La técnica EXIT (Ex Útero Intrapartum Treatment) consiste en asegurar la vía aérea del neonato, sin interrumpir la oxigenación y perfusión materno-fetal a través del soporte placentario. Esta técnica no ha sido estandarizada en países de medianos ingresos. Objetivo: Describir el caso clínico de 2 neonatos manejados mediante la técnica EXIT. Caso Clínico: Se reportan dos casos, uno con malformación linfática diagnosticada a la semana 20 gestación y el segundo con tiromegalia y polihidramnios diagnosticados a la semana 35 de gestación. En ambos casos, duran te la cesárea se realizó la técnica EXIT con un equipo conformado por neonatólogo, ginecólogo, anestesiólogo, cirujano pediatra, otorrinolaringólogo, enfermero y terapeuta respiratorio. En los dos pacientes se logró asegurar la vía aérea mediante intubación orotraqueal al primer intento. En el caso 1 se confirmó la malformación linfática y recibió escleroterapia, y en el caso 2 se diagnosticó hipotiroidismo congénito asociado a bocio, que fue manejado con levotiroxina. Los pacientes se mantuvieron 7 y 9 días con ventilación mecánica invasiva respectivamente y egresaron sin complicaciones respiratorias. Conclusiones: La técnica EXIT en estos casos fue un procedimiento seguro, llevado a cabo sin inconvenientes. Se necesita un equipo multidisciplinario y la disponibilidad de una unidad de cuidados intensivos neonatales, con el objetivo de reducir potenciales complica ciones y garantizar el manejo postnatal. Para lograr su ejecución, es indispensable el diagnóstico prenatal oportuno.

Abstract: Introduction: Congenital head and neck masses are associated with perinatal asphyxia and brain injury, increasing the risk of death. The EXIT (Ex Utero Intrapartum Treatment) technique con sists of ensuring the newborn's airway while is still receiving placental support. This technique has not been standardized in developing countries. Objective: To describe the clinical outcomes of two infants who underwent the EXIT technique. Clinical Case: We present two cases, one with lymphatic malformation diagnosed at 20 weeks of gestational age (WGE) and the second one, a preterm newborn with thyromegaly and polyhydramnios, diagnosed at 35 WGE. In both cases, during the C-section, the EXIT technique was performed with a team of a neonatologist, a gyne cologist, an anesthesiologist, a pediatric surgeon, an otolaryngologist, a nurse, and a respiratory therapist. In both patients, the neonatologist achieved to secure the airway through orotracheal intubation at the first attempt. In the first case, lymphatic malformation was confirmed and re ceived sclerotherapy, and the second one was diagnosed with congenital hypothyroidism which was managed with levothyroxine. The patients needed invasive mechanical ventilation for 7 and 9 days, respectively, and were discharged without respiratory complications. Conclusions: In these patients, the EXIT technique was a safe procedure, carried out without inconvenience. A multi disciplinary approach and the availability of a neonatal intensive care unit are needed to reduce potential complications and ensure postnatal management. Timely prenatal diagnosis is essential to perform this technique.

Improvement in Oral Health and Compliance in a Child with Congenital Hypothyroidism. Case Report / Progreso del cuidado oral y el comportamiento en un niño con hipotiroidismo congénito. Reporte de caso

ABSTRACT Congenital hypothyroidism is a metabolic disorder that requires special health care interventions. It has influence in overall growth and oral conditions in pediatric patients, and also can affect child cooperation during dental treatment because this metabolic condition is the most common preventable cause of mental retardation. The aim of this paper is to report the dental treatment of a child with congenital hypothyroidism who is four years and five months old, with many facial and oral characteristics of the metabolic condition, including severe early childhood caries and malocclusion. At first, it was observed a lack of cooperation of the patient with speech and learning impairment, but with the help of the Pedagogy team at the Pediatric Dental Clinic Playroom, he developed confidence and diminished anxiety every appointment. We present the follow-up during 15 months, where we could observe favorable outcomes in oral health and compliance of the child.

RESUMEN El hipotiroidismo congénito es una alteración metabólica que representa una necesidad especial en salud. Tiene influencia en el crecimiento general y las condiciones orales de los pacientes pediátricos, así como también puede afectar en el grado de cooperación del niño durante la consulta porque esta condición metabólica es la causa prevenible más común de retraso mental. El propósito de este artículo es reportar el tratamiento odontológico de un niño con hipotiroidismo congénito de cuatro años y cinco meses de edad, con varias características de la condición metabólica, incluyendo caries de la infancia temprana severa y maloclusión. Al principio se observó una falta de cooperación por parte del paciente, con dificultades para el habla y el aprendizaje, pero con la ayuda del equipo pedagógico de la Sala Lúdica, el niño desarrolló confianza con disminución de la ansiedad en cada cita. Presentamos un seguimiento a lo largo de 15 meses, donde hemos observado resultados favorables en la salud oral y en el comportamiento del paciente.

Influence of socioeconomic factors on the perception of cochlear-vestibular symptoms and adherence to the treatment of congenital hypothyroidism / Influência dos fatores socioeconômicos na percepção de sintomas cócleo-vestibulares e na adesão ao tratamento do hipotireoidismo congênito

Abstract Objectives: to verify if there is an association between socioeconomic factors and adherence to treatment in congenital hypothyroidism and to verify if there is an association between socioeconomic factors and vestibulocochlear symptoms noticed by parents/caregivers of children diagnosed with congenital hypothyroidism. Methods: a cross-sectional, exploratory and descriptive study, with a convenience sample. The sample consisted of 108 children with clinical and laboratory diagnosis of congenital hypothyroidism, of both sexes, aged ≥ 5 years. The researchers applied a structured questionnaire to parents/caregivers, consisting of closed and objective questions about the presence or absence of tinnitus, hearing loss and dizziness/vertigo in children with congenital hypothyroidism. Results: There was no association between socioeconomic factors and adherence to treatment or perception of cochlear-vestibular symptoms. Conclusions: socioeconomic factors did not influence treatment adherence or perceived cochlear-vestibular symptoms by caregivers of children with congenital hypothyroidism.

Resumo Objetivos: verificar se existe associação entre fatores socioeconômicos e adesão ao tratamento no hipotireoidismo congênito e verificar se existe associação entre fatores socioeconômicos e sintomas vestibulococleares percebidos pelos pais / cuidadores de crianças diagnosticadas com hipotireoidismo congênito. Métodos: estudo transversal, exploratório e descritivo, com amostra de conveniência. A casuística foi composta por 108 crianças com diagnóstico clínico e laboratorial de hipotireoidismo congênito, de ambos os sexos com idade ≥ 5 anos. Foi aplicado um questionário estruturado para os pais/cuidadores, formado por questões fechadas e objetivas sobre a presença ou ausência de zumbido, hipoacusia e tontura/vertigem nas crianças com hipotireoidismo congênito. Resultados: não houve associação entre fatores socioeconômicos e adesão ao tratamento ou percepção dos sintomas cócleo-vestibulares. Conclusões: os fatores socioeconômicos não influenciaram na adesão ao tratamento nem na percepção de sintomas cócleo-vestibulares pelos cuidadores de crianças com hipotireoidismo congênito.

Phonological acquisition in children with early-treated congenital hypothyroidism: association with clinical and laboratory parameters / Aquisição fonológica em crianças com hipotireoidismo congênito precocemente tratado: associação com dados clínicos e laboratoriais

ABSTRACT Purpose To evaluate the phonological characteristics of children with congenital hypothyroidism (CH). Methods Observational, analytical, cross-sectional, ambispective study including prepubertal children with CH (n=100; study group, SG) and controls without CH ( n=100; control group, CG). Assessments included a speech language pathology interview, the phonological evaluation of the ABFW Child Language Test, medical data, and neuropsychological tests in the first three years of life. Results On treatment onset of the SG, the median chronological age of the participants was 18.0 days and 48.4% had total T4 <2.5 µg/dL (31.75 nmol/L). At the age of 7 years, children in the SG had higher rates of consonant cluster simplification and lower rates of complete phonological system compared to those in the CG. On analysis of combined age groups (4+5 and 6+7 years), the CG had a higher frequency of complete acquisition versus the SG. On multivariate analysis, thyroid agenesis, abnormal scores on the Clinical Linguistic and Auditory Milestone Scale and developmental quotient tests were associated with the occurrence of phonological disorders. Conclusion Children with CH present delay in phonological acquisition, despite early diagnosis and adequate treatment, especially between the ages of 6-7 years. The etiology of CH and the results of neuropsychological tests in the first years of life seem to be related to this delay.

RESUMO Objetivo Avaliar as características fonológicas de crianças com hipotireoidismo congênito (HC). Método Estudo observacional, analítico, transversal e ambispectivo que incluiu crianças pré-púberes com HC (n = 100, Grupo de Estudo, GE) e um grupo controle de crianças pré-púberes sem HC (n = 100, Grupo Controle, GC). As avaliações incluíram uma entrevista fonoaudiológica, avaliação fonológica por meio do teste de linguagem infantil ABFW, e coleta de dados nos prontuários referentes às avaliações médicas e testes neuropsicológicos realizados nos três primeiros anos de vida. Resultados Quanto ao início do tratamento no GE, a idade cronológica mediana dos participantes foi de 18,0 dias e 48,4% apresentaram T4 total <2,5 μg / dL (31,75 nmol / L). Na comparação da avaliação fonológica por idade, aos 7 anos as crianças no GE tiveram maior ocorrência de simplificação de encontros consonantais e menor ocorrência de sistema fonológico completo quando comparadas às crianças do GC. Na análise de grupos etários combinados (4 + 5 e 6 + 7 anos), observou-se que o GC teve aquisição completa do sistema fonológico mais precocemente. Na análise multivariada, agenesia da tireoide, resultados alterados nos testes Clinical Linguistic and Auditory Milestone Scale (CLAMS) e Developmental Quotient Tests (CDC) foram associados à ocorrência de desvios fonológicos. Conclusão Crianças com HC apresentam atraso na aquisição fonológica, mesmo com diagnóstico precoce e tratamento adequado, especialmente entre as idades de 6-7 anos. A etiologia do HC, bem como os resultados obtidos nos testes neuropsicológicos nos primeiros anos de vida, parecem ter relação com este atraso.

Perfiles cognitivos en pacientes con hipotiroidismo congénito detectado y tratado en forma temprana / Cognitive profiles of patients with early detected and treated congenital hypothyroidism

Introducción. Los niños con hipotiroidismo congénito (HC) detectados por pesquisa neonatal y tratados adecuadamente presentarían defectos cognitivos leves. Objetivos. Evaluar el coeficiente intelectual de niños con HC e identificar la presencia de déficits cognitivos específicos. Población y métodos. Se seleccionó un grupo de 60 niños con HC, de entre 9 y 10 años, detectados por pesquisa neonatal y tratados adecuadamente desde el primer mes de vida, y se comparó con un grupo control de 60 niños sin HC de la misma edad. Fueron criterios de inclusión la ausencia de patología intercurrente, concurrencia a jornada escolar simple y padres con nivel escolar mínimo de secundaria completa. En entrevistas individuales, se administraron la escala de inteligencia Wechsler para niños, tercera edición, figura compleja de Rey, test Woodcock-Muñoz revisado, Conners Continuous Performance Test II, test Illinois de aptitudes psicolingüísticas, test de fluidez verbal, test de cubos de Knox, Trail Making Test, test de caras y test de los 5 dígitos. Se realizó el análisis estadístico con pruebas t de Student (muestras independientes) ajustado por Bonferroni (p < 0,002). Resultados. Aun dentro del rango normal promedio, hubo diferencias significativas entre grupos en el coeficiente intelectual total y de ejecución (tamaño del efecto pequeño y moderado, respectivamente). Los niños hipotiroideos presentaron, en el área de ejecución, significativamente menor desempeño en velocidad de procesamiento, tiempos de reacción, atención, flexibilidad cognitiva, visoconstrucción y memoria a largo plazo. No hubo diferencia significativa entre grupos en el área verbal. Conclusiones. Los niños hipotiroideos congénitos, sin discapacidad mental, presentaron defectos cognitivos leves, que deben ser tenidos en cuenta para su atención integral.

Introduction. Children with congenital hypothyroidism (CH) detected by newborn screening and adequately treated may have mild cognitive deficits. Objectives. To assess the intelligence quotient of children with CH and identify the presence of specific cognitive deficits. Population and methods. A group of 60 children with CH detected by newborn screening, who were aged 9-10 years old and received adequate treatment since their first month of life was selected and compared to a control group of 60 children without CH in the same age range. Inclusion criteria: children without concurrent diseases, who were attending school in a single shift, and whose parents had at least completed secondary education. The following tests were administered during individual interviews: the Wechsler Intelligence Scale for Children (third edition), the Rey complex figure test, the Woodcock-Muñoz revised test, the Conners Continuous Performance Test II, the Illinois Test of Psycholinguistic Abilities, the verbal fluency test, the Knox Cube Test, the Trail Making Test, the faces test, and the 5 digit test. The statistical analysis was done using Student's t tests (for independent samples) with Bonferroni's correction (p < 0.002). Results. Even within the normal average range, significant differences were observed between both groups in terms of total intelligence quotient and performance intelligence quotient (small and moderate effect sizes, respectively). In terms of performance, children with hypothyroidism had a significantly poorer performance in processing speed, reaction times, attention, cognitive flexibility, visuoconstruction, and long-term memory. No significant differences were found between both groups in the verbal area. Conclusions. Children with congenital hypothyroidism and without mental disability had mild cognitive deficits, which should be taken into account for a comprehensive patient care.

Carcinoma papilar de tiroides en un niño con hipotiroidismo congénito dishormonogénico: Reporte de un caso / Papillary thyroid carcinoma in a child with congenital dyshormonogenetic hypothyroidism: Case report

Introducción: El cáncer papilar de tiroides (CPT) es una enfermedad infrecuente en pediatría. La presentación de CPT asociado a hipotiroidismo congénito (HC) dishormonogénico es excepcional, y hay pocos casos reportados en la literatura. Objetivo: Presentar un caso de CPT en un paciente con HC dishormonogénico sin bocio, expuesto a radiación ionizante. Evaluar asociaciones entre estos factores y el desarrollo de CPT. Caso clínico: Paciente varón con antecedentes de HC dishormonogénico, por lo que recibió suplementación precoz con levotiroxina, logrando niveles normales de tirotropinas y hormonas tiroideas. Con antecedentes de cardiopatía congénita, fue sometido tratamiento intervencional con 10 cateterismos cardíacos y aproximadamente 26 radiografías de tórax con dosis pediátrica. A la edad de 6 años se encontró un nódulo tiroideo mediante ecografía. La citología por punción aspirativa con aguja fina confirmó alta sospecha de carcinoma tiroideo (Bethesda 5). El estudio de etapificación no mostró metástasis en el tórax ni en el cerebro. Fue sometido a tiroidectomía total y el análisis histopatológico reveló un microcarcinoma papilar de 0,5 cm intratiroideo, sin evidencia de diseminación. Conclusión: Las mutaciones genéticas propias de esta enfermedad y la exposición a radiación ionizante pudieran estar implicadas en el desarrollo de CPT. Es probable que haya vías fisiopatológicas comunes que requieren mayor investigación.

Introduction: Papillary thyroid carcinoma (PTC) is a rare childhood disease. The development of PTC in dyshormonogenetic congenital hypothyroidism (CH) is infrequent, with very few case reports in literature. Objective: To report a case of PTC in a boy with dyshormonogenetic CH without goitre and exposed to ionising radiation. To evaluate relationships between these factors and development of PTC. Case report: We present a boy with dyshormonogenetic CH since birth. Early hormonal substitution was initiated, with subsequent normal levels of thyrotropin and thyroid hormones. He has also congenital cardiomyopathy, exposed to interventional treatment with 10 heart catheterisations, and approximately 26 chest X-rays at paediatric doses. A thyroid nodule was found in thyroid echography at the age of 6 years old. Fine needle aspiration biopsy confirmed high probability of thyroid carcinoma (Bethesda 5). The pre-surgical thorax and cerebral scan showed no evidence of metastasis. The patient underwent total thyroidectomy. Pathological examination revealed a 0.5 cm papillary thyroid micro-carcinoma in the right lobe, with no evidence of dissemination. Conclusion: Genetic mutations and radiation exposure may play an important role in the development of PTC. There may be common pathways between dyshormonogenetic CH and thyroid carcinoma that need further investigation.

European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism

"OBJECTIVE: The aim was to formulate practice guidelines for the diagnosis and management of congenital hypothyroidism (CH). EVIDENCE: A systematic literature search was conducted to identify key articles relating to the screening, diagnosis, and management of CH. The evidence-based guidelines were developed with the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) system, describing both the strength of recommendations and the quality of evidence. In the absence of sufficient evidence, conclusions were based on expert opinion. CONSENSUS PROCESS: Thirty-two participants drawn from the European Society for Paediatric Endocrinology and five other major scientific societies in the field of pediatric endocrinology were allocated to working groups with assigned topics and specific questions. Each group searched the literature, evaluated the evidence, and developed a draft document. These papers were debated and finalized by each group before presentation to the full assembly for further discussion and agreement. RECOMMENDATIONS: The recommendations include: worldwide neonatal screening, approaches to assess the cause (including genotyping) and the severity of the disorder, the immediate initiation of appropriate L-T4 supplementation and frequent monitoring to ensure dose adjustments to keep thyroid hormone levels in the target ranges, a trial of treatment in patients suspected of transient CH, regular assessments of developmental and neurosensory functions, consulting health professionals as appropriate, and education about CH. The harmonization of diagnosis, management, and routine health surveillance would not only optimize patient outcomes, but should also facilitate epidemiological studies of the disorder. Individuals with CH require monitoring throughout their lives, particularly during early childhood and pregnancy."

Hipotiroidismo congénito: un diagnóstico que no debemos olvidar / Congenital hypothyroidism: a diagnosis not to forget

Summary: Congenital hypothyroidism (CH) is the most common cause of preventable mental retardation. Since 1994, Chile has a national plan for mass screening all newborns to diagnose the disease. Currently, the CH incidence is approximately 1:3163 newborn (NB). Approximately, 10 percent of these cannot be identified by screening programs, so the clinical suspicion is fundamental in the diagnosis. The most frequently clinical features observed in neonates or young infants are the presence of a posterior fontanelle greater than 5 mm, umbilical hernia and dry skin. It is important to determine the etiology of CH, but the etiological study should not delay the start of treatment. Early treatment determines a better prognosis of neurological development. A review of the CH screening program, pathophysiology, clinical presentation, and aspects of the study and treatment are presented in this study.

El hipotiroidismo congénito (HTC) es la causa más frecuente de discapacidad intelectual prevenible. Desde el año 1994 existe en Chile un plan nacional de tamizaje masivo a todos los recién nacidos para el diagnóstico de la enfermedad. Actualmente, la incidencia de HTC es de aproximadamente 1:3 163 recién nacidos (RN). Hasta un 10 por ciento de éstos puede no ser identificado por los programas de tamizaje, por lo que es importante la sospecha clínica del diagnóstico. Las características clínicas más frecuentemente observadas en RN o lactantes pequeños son la presencia de una fontanela posterior mayor de 5 mm, hernia umbilical y piel seca. Es importante determinar la etiología del HTC, pero el estudio etiológico no debe retrasar el inicio del tratamiento. El inicio precoz de éste determina un mejor pronóstico de desarrollo neurológico. Se presenta una revisión del programa de tamizaje de HTC, su fisiopatología, presentación clínica, y aspectos del estudio y tratamiento.

Incidence of congenital hypothyroidism in the city of Uberaba/Minas Gerais and etiological evaluation of the affected subjects / Incidência do hipotireoidismo congênito no município de Uberaba/Minas Gerais e avaliação etiológica dos afetados

OBJECTIVE: The objective of this study was to determine the incidence and etiology of congenital hypothyroidism (CH) in Uberaba, MG. SUBJECTS AND METHODS: From 2001 to 2010, by reviewing patient files from a public reference outpatient unit. The screening program covered 88% of live-born children. RESULTS: CH was diagnosed in 16 children, representing an incidence of 1:2,017 live-born children screened. The etiological evaluation was done in 15 children and revealed seven cases of thyroid dysgenesis, seven of dyshormonogenesis, and one case of transient hypothyroidism. One child moved away from the state before etiological investigation was carried out. CONCLUSION: We concluded that both the incidence of CH and of dyshormonogenesis as the main causes of CH were increased in the investigated region, but molecular studies are necessary for a better definition of etiology.

OBJETIVO: O objetivo deste estudo foi determinar a incidência e etiologia do hipotireoidismo congênito (HC) em Uberaba, MG. PACIENTES E MÉTODOS: Mediante revisão dos prontuários de pacientes atendidos no ambulatório de referência do serviço público, no período de 2001 a 2010. RESULTADOS: A cobertura do programa foi de 88%, sendo diagnosticadas 16 crianças com HC, com incidência de 1:2.017 nascidos vivos investigados. A avaliação etiológica foi realizada em 15 crianças, sendo diagnosticados sete casos de disgenesia tireoidiana, sete casos de disormonogênese e um caso de hipotireoidismo transitório. Uma criança não foi investigada devido à mudança de residência para outro estado. CONCLUSÕES: Concluímos que a incidência do HC é maior nesta região, assim como a disormonogênese como principal causa, sendo necessários estudos moleculares para melhor definição etiológica.

Desempenho em habilidades motoras, comunicativas e cognitivas de crianças com hipotireoidismo congênito tratadas desde o período neonatal / Performance motor, communication and cognitive skills of children with congenital hypothyroidism treated since the neonatal period

O hipotireoidismo congênito (HC) é um distúrbio do metabolismo, caracterizado pela produção deficiente dos hormônios tireoidianos. A literatura ressalta que crianças podem apresentar alterações cognitivas, linguísticas e problemas comportamentais, mesmo quando o diagnóstico e o tratamento iniciaram precocemente. O estudo teve como objetivo verificar desempenho em habilidades motoras, comunicativas e cognitivas de indivíduos com hipotireoidismo congênito, tratados desde o período neonatal e comparar esses achados com seus pares sem alterações da tireoide. Participaram deste estudo 15 indivíduos com o diagnóstico de hipotireoidismo congênito do gênero feminino, com idade cronológica variando entre36 a 71 meses, com Quociente de Inteligência superior a 70, denominado Grupo Experimental (GE); e 15 indivíduos típicos, sem alterações da tireoide, denominado Grupo Comparativo (GC). Os participantes dos dois grupos foram pareados quanto à idade cronológica e nível socioeconômico. Os instrumentos de avaliação utilizados foram: Entrevista com pais; Observação do Comportamento Comunicativo; Teste de Vocabulário por Imagem Peabody – TVIP; Teste de Screening de Desenvolvimento DenverII. Foi realizada avaliação psicológica, quanto ao nível intelectual, com a aplicação da Escala de Inteligência StanfordBinet. Os resultados mostraram que o desempenho das crianças do GE quanto às habilidades comunicativas, de linguagem, cognitiva e de linguagem receptiva apresentaram diferença estatística significante quando comparado com o GC. Os achados desse trabalho confirmam a interferência do HC no desenvolvimento infantil, ressaltando que indivíduos com HC, mesmo diagnosticados e tratados precocemente, podem apresentar alterações motoras, comunicativas e cognitivas e esses prejuízos poderão afetálos no decorrer da vida, inclusive nas habilidades escolares. Reitera se que estudos longitudinais são importantes para acompanhar e prevenir essas alterações.

Congenital hypothyroidism (CH) is a metabolic disorder characterized by deficiente production of thyroid hormones. The literature points out that children may have cognitive, language and behavioral problems changes even when the diagnosis and treatment started early. The study aimed to verify performance in motor, communication and cognitive abilities of individuals with congenital hypothyroidism treated from the neonatal period and to compare these findings with their peers without thyroid changes. The study included 15 subjects with a diagnosis of congenital hypothyroidism females with chronological age ranging from 36 to 71 months, with Intelligence Quotient greater than 70, called Experimental Group (GE); and 15 typical individuals without thyroid changes, called Comparative Group (GC). Participants in both groups were matched for chronological age and socioeconomic status. The assessment instruments used were: Interview with parents; Observationof Communicative Behavior; Vocabulary Test Peabody Picture TVIP; Screening Test Development DenverII. Psychological assessment was conducted, on theintellectual level, with the application of the Stanford Binet Intelligence Scale. The results showed that children's performance of GE regarding communication skills, language, cognitive and receptive language showed statistically significant differences when compared to the GC. The findings of this study confirm the interference of HC in child development, noting that individuals with HC, even if diagnosed and treated early, may have driven, communicative and cognitive changes and these losses may affect them throughout their lives, including in school skills. It is reiterated that longitudinal studies are important to monitor and prevent these changes.

Desempenho em habilidades motoras, comunicativas e cognitivas de crianças com hipotireoidismo congênito tratadas desde o período neonatal / Performance motor, communication and cognitive skills of children with congenital hypothyroidism treated since the neonatal period

O hipotireoidismo congênito (HC) é um distúrbio do metabolismo, caracterizado pela produção deficiente dos hormônios tireoidianos. A literatura ressalta que crianças podem apresentar alterações cognitivas, linguísticas e problemas comportamentais, mesmo quando o diagnóstico e o tratamento iniciaram precocemente. O estudo teve como objetivo verificar desempenho em habilidades motoras, comunicativas e cognitivas de indivíduos com hipotireoidismo congênito, tratados desde o período neonatal e comparar esses achados com seus pares sem alterações da tireoide. Participaram deste estudo 15 indivíduos com o diagnóstico de hipotireoidismo congênito do gênero feminino, com idade cronológica variando entre36 a 71 meses, com Quociente de Inteligência superior a 70, denominado Grupo Experimental (GE); e 15 indivíduos típicos, sem alterações da tireoide, denominado Grupo Comparativo (GC). Os participantes dos dois grupos foram pareados quanto à idade cronológica e nível socioeconômico. Os instrumentos de avaliação utilizados foram: Entrevista com pais; Observação do Comportamento Comunicativo; Teste de Vocabulário por Imagem Peabody – TVIP; Teste de Screening de Desenvolvimento DenverII. Foi realizada avaliação psicológica, quanto ao nível intelectual, com a aplicação da Escala de Inteligência StanfordBinet. Os resultados mostraram que o desempenho das crianças do GE quanto às habilidades comunicativas, de linguagem, cognitiva e de linguagem receptiva apresentaram diferença estatística significante quando comparado com o GC. Os achados desse trabalho confirmam a interferência do HC no desenvolvimento infantil, ressaltando que indivíduos com HC, mesmo diagnosticados e tratados precocemente, podem apresentar alterações motoras, comunicativas e cognitivas e esses prejuízos poderão afetálos no decorrer da vida, inclusive nas habilidades escolares. Reitera se que estudos longitudinais são importantes para acompanhar e prevenir essas alterações.

Congenital hypothyroidism (CH) is a metabolic disorder characterized by deficiente production of thyroid hormones. The literature points out that children may have cognitive, language and behavioral problems changes even when the diagnosis and treatment started early. The study aimed to verify performance in motor, communication and cognitive abilities of individuals with congenital hypothyroidism treated from the neonatal period and to compare these findings with their peers without thyroid changes. The study included 15 subjects with a diagnosis of congenital hypothyroidism females with chronological age ranging from 36 to 71 months, with Intelligence Quotient greater than 70, called Experimental Group (GE); and 15 typical individuals without thyroid changes, called Comparative Group (GC). Participants in both groups were matched for chronological age and socioeconomic status. The assessment instruments used were: Interview with parents; Observationof Communicative Behavior; Vocabulary Test Peabody Picture TVIP; Screening Test Development DenverII. Psychological assessment was conducted, on theintellectual level, with the application of the Stanford Binet Intelligence Scale. The results showed that children's performance of GE regarding communication skills, language, cognitive and receptive language showed statistically significant differences when compared to the GC. The findings of this study confirm the interference of HC in child development, noting that individuals with HC, even if diagnosed and treated early, may have driven, communicative and cognitive changes and these losses may affect them throughout their lives, including in school skills. It is reiterated that longitudinal studies are important to monitor and prevent these changes.

Retard psychomoteur revelateur d'une hypothyroidie congenitale chez un nourrisson de 14 mois a Bouake (Cote d'Ivoire)

Introduction. En Cote d'Ivoire; le depistage systematique de l'hypothyroidie ne fait pas encore partie des directives nationales du ministere de la sante. Aussi; l'hypothyroidie est decouverte souvent tardivement au stade des complications. L' objectif de ce travail etait de decrire les principales caracteristiques epidemiologiques; diagnostiques; therapeutiques et evolutives de l'hypothyroidie congenitale Population et methode. Nous rapportons l'observation du nourrisson D.Z; age de 14 mois; admis en pediatrie au CHU de Bouake en novembre 2013 pour un retard de croissance et de developpement psychomoteur. Les antecedents pre et per-nataux etaient sans particularite. En periode neonatale; le nourrisson etait mou; dormait beaucoup; avait une respiration bruyante et une constipation. Par la suite il s'est installe un retard psychomoteur et de croissance d'aggravation progressive sans fievre. A 6 mois; le nourrisson ne tenait pas la tete dans l'axe; n'avait pas de poursuite oculaire; ne reconnaissait pas sa mere; ne repondait pas aux sourires et sa croissance semblait ralentie. A 14 mois; D.Z etait devenu plus hypotonique; sa respiration toujours bruyante; ne s'asseyait toujours pas et ne repetait aucunes syllabes. En revanche il suivait du regard; entendait et avait acquis le sourire-reponse. Plusieurs medications traditionnelles et modernes ont ete entreprises sans succes. Les investigations para cliniques ont permis de retenir le diagnostic d'une hypothyroidie congenitale. Conclusion. Les signes de l'hypothyroidie congenitale; au debut; sont frustres et egarent le diagnostic. Une collaboration multidisciplinaire incluant le gynecologue obstetricien; le pediatre et l'endocrinologue est indispensable pour le diagnostic precoce et la prise en charge adaptee afin d'eviter la regression psychomotrice prejudiciable a l'enfant

Adesão ao tratamento do hipotireoidismo congênito segundo relato de cuidadores / Entry into the treatment of the congenital hypothyroidism according to reports of their caregivers

Esta pesquisa procurou identificar variáveis que interferem na adesão ao tratamento segundo relato de cuidadores de crianças com Hipotireoidismo Congênito atendidas em um centro de referência no Estado do Pará. Participaram 50 cuidadores primários, com idade entre 17 e 55 anos, com diferentes graus de parentesco com a criança. As variáveis relacionadas à adesão foram identificadas por meio de entrevistas com os cuidadores, seguindo roteiro estruturado. Os resultados indicaram que a maioria dos cuidadores desconhece sobre características da doença, etiologia, diagnóstico, tratamento e prognóstico, independen-temente da idade, escolaridade, grau de parentesco e tempo em que a criança está no Programa, dificultando a adesão ao tratamento. Para a maioria das crianças, o Teste do Pezinho foi realizado com atraso, indicando prejuízos ao tratamento.

This study aims at identifying variables which interfere on the entry into the treatment according to reports of caregivers of children suffering from Congenital Hypothyroidism seen at the Center of Reference in Pará State. Fifty main caregivers, with different degrees of kinship to the children and ranging from 17 to 55 years old, took part in this study. The variables related to the treatment entry were identified by means of interviews with the caregivers following structured pilot instructions. Results showed that most of the caregivers are not aware of the characteristics of the disease, its etiology, diagnosis, treatment and prognostic, regardless the age, school degree, kinship and amount of time the child is on the Program, which makes the treatment entry more difficult. In most children, the Newborn Screening Test was not done in the right time, fact that brought damage to the treatment.

Adesão ao tratamento do hipotireoidismo congênito segundo relato de cuidadores / Entry into the treatment of the congenital hypothyroidism according to reports of their caregivers

Esta pesquisa procurou identificar variáveis que interferem na adesão ao tratamento segundo relato de cuidadores de crianças com Hipotireoidismo Congênito atendidas em um centro de referência no Estado do Pará. Participaram 50 cuidadores primários, com idade entre 17 e 55 anos, com diferentes graus de parentesco com a criança. As variáveis relacionadas à adesão foram identificadas por meio de entrevistas com os cuidadores, seguindo roteiro estruturado. Os resultados indicaram que a maioria dos cuidadores desconhece sobre características da doença, etiologia, diagnóstico, tratamento e prognóstico, independen-temente da idade, escolaridade, grau de parentesco e tempo em que a criança está no Programa, dificultando a adesão ao tratamento. Para a maioria das crianças, o Teste do Pezinho foi realizado com atraso, indicando prejuízos ao tratamento.(AU)

This study aims at identifying variables which interfere on the entry into the treatment according to reports of caregivers of children suffering from Congenital Hypothyroidism seen at the Center of Reference in Pará State. Fifty main caregivers, with different degrees of kinship to the children and ranging from 17 to 55 years old, took part in this study. The variables related to the treatment entry were identified by means of interviews with the caregivers following structured pilot instructions. Results showed that most of the caregivers are not aware of the characteristics of the disease, its etiology, diagnosis, treatment and prognostic, regardless the age, school degree, kinship and amount of time the child is on the Program, which makes the treatment entry more difficult. In most children, the Newborn Screening Test was not done in the right time, fact that brought damage to the treatment.(AU)

Articulos del cono sur- Argentina: programa de pesquisa neonatal de hipotiroidismo congénito de la provincia de Buenos Aires/1, 377. 455 nilos evaluados en diea años de experiencia / Articles in the Southern Cone-Argentina: neonatal screening program for congenital hypothyroidism in the province of Buenos Aires / Niles evaluated 1377.455 IDEA years of experience

En 1995 se implementó en la provincia de Buenos Aires el programa de pesquisa de hipotiroidismo congénito para su diagnóstico y tratamiento precoz. El objetivo de este trabajo fue analizar los registros durante el periodo 2000-2004 y compararlos con los del periodo previo (1995-1999).

Hipotireoidismo congênito / Cretinism

O hipotireoidismo congênito é a deficiência parcial ou completa dos hormônios tireóideos presente ao nascimento. Sua prevalência é de um para cada quatro mil nascidos vivos e é apontada como a maior causa de retardo mental prevenível em todo o mundo. Devido ao seu quadro clínico extremamente variável, é de suma importância a realização de exames de rastreamento neonatal. O diagnóstico precoce e a rápida instituição de reposição hormonal são cruciais ao adequado desenvolvimento e crescimento dos indivíduos acometidos