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

RESUMO Objetivo Comparar o desempenho das habilidades motora grossa, motora fina-adaptativa, linguagem, cognitiva e pessoal-social de meninas entre 36 e 70 meses com hipotireoidismo congênito tratado no período pós-natal com seus pares sem alterações tireoidianas. Método Participaram 15 meninas com diagnóstico de hipotireoidismo congênito, com idade cronológica variando de 36 a 70 meses no Grupo Experimental (GE); e 15 meninas sem alterações tireoidianas no Grupo Comparativo (GC), pareadas por idade cronológica e nível socioeconômico. Os instrumentos de avaliação utilizados foram: Entrevista com os pais; Teste de Vocabulário por Imagem Peabody (TVIP-R); e Teste de Triagem do Desenvolvimento de Denver II (TTDD-II). Foi realizada a avaliação psicológica, quanto ao nível intelectual, com a aplicação da Stanford-Binet Intelligence Scale (SBIS). A estatística foi realizada por meio de análise descritiva, teste "t" de Student e Teste de Mann-Whitney, nível de significância de p <5%. Resultados Na comparação do TVIP-R e SBIS, houve diferença estatisticamente significante entre o GE e o GC. Na comparação entre as áreas do TTDD-II, houve diferença estatisticamente significante entre os grupos para as áreas de Linguagem, Motora Grossa e Motora Fina-Adaptativa. Conclusão O presente estudo confirmou a interferência do Hipotireoidismo Congênito no desenvolvimento infantil, mesmo quando diagnosticado e tratado precocemente, levando a mudanças no desenvolvimento que podem trazer prejuízos nas áreas motora, cognitiva e linguística.

ABSTRACT Objective To compare the performance in gross motor, fine motor-adaptive, language, cognitive and personal-social development skills of girls with a mean age of 36 to 71 months with Congenital Hypothyroidism treated from the neonatal period with that of their peers without thyroid alterations. Methods The participants included in the study were 30 children aged between 36 and 70 months divided into two groups paired for chronological age and socioeconomic status: 15 girls diagnosed with Congenital Hypothyroidism - Experimental Group (EG) and 15 girls without thyroid changes - Control Group (CG). The following assessment instruments were used: Interview with parents, Peabody Picture Vocabulary Test - Revised (PPVT-R), and Denver Developmental Screening Test - 2nd edition (DDST-II). Psychological testing of intellectual functioning was conducted with application of the Stanford-Binet Intelligence Scale (SBIS). The descriptive statistical analysis was performed using Student's t-test and the Mann-Whitney test at a significance level of 5% (p<0.05). Results Comparison of the PPVT-R and SBIS results showed a statistically significant difference between the EG and CG. Comparison of the DDST-II results showed a statistically significant difference between the groups for the fine motor-adaptive, language and gross motor areas. Conclusion The present study confirms that Congenital Hypothyroidism affects child development, even when children are diagnosed and treated early, leading to alterations that can impair their motor, cognitive and language development.

Hipotireoidismo congênito como fator de risco para os transtornos do processamento auditivo central / Congenital hypothyroidism as a risk factor for central hearing process disorders

RESUMO Objetivo: Investigar a manifestação de sintomas do transtorno do processamento auditivo central em crianças com hipotireoidismo congênito. Métodos: Estudo de caráter exploratório, descritivo e transversal com 112 pacientes com hipotireoidismo congênito com idade ≥5 anos. Realizou-se entrevista com os pais/cuidadores no momento da espera da consulta médica. Portadores de outras afecções médicas foram excluídos. Como instrumento de pesquisa utilizou-se o protocolo estruturado de anamnese para avaliação do processamento auditivo rotineiramente empregado por audiologistas. A análise estatística utilizou o teste Qui-quadrado. Resultados: A distribuição por sexo foi semelhante (meninas: 53,3%). Os casos não-disgenesia constituíram a forma fenotípica mais prevalente para o hipotireoidismo congênito (88,4%), e verificou-se que 65,3% das crianças apresentavam algum episódio de níveis séricos irregulares de hormônio tireoestimulante. Dentre as manifestações mais frequentes dos sintomas do transtorno do processamento auditivo central, as queixas relaciondas às funções cognitivas auditivas, como: figura-fundo (83,0%), atenção auditiva (75,9%) e memória auditiva (33,0%) foram as mais evidentes. Reclamações relacionadas ao rendimento escolar foram reportadas em 62,3%. Conclusões: Os dados obtidos evidenciaram altas frequências de sintomas de defasagem nas funções cognitivas relacionadas ao processamento auditivo central, em especial na atenção auditiva, figura-fundo e memória auditiva nos portadores do hipotireoidismo congênito.

ABSTRACT Objective: To investigate the presence of central auditory processing disorder symptoms in children with congenital hypothyroidism. Methods: An exploratory, descriptive, cross-sectional study of 112 patients with congenital hypothyroidism aged ≥5 years old. An interview was held with the parents/caregivers at the time of the medical consultation. Patients with other medical conditions were excluded. As a research instrument, the structured protocol of anamnesis was used to evaluate the auditory processing routinely used by audiologists. For statistical analysis, the chi-square test was used. Results: Sex distribution was similar in both boys and girls (girls: 53.3%). The most prevalent phenotypic form of congenital hypothyroidism was no dysgenesis (88.4%), and 65.3% of the children had an episode of irregular serum thyroid-stimulating hormone (TSH) levels. Among the manifestations of the most frequent central auditory processing disorder symptoms, problems were reported with regard to cognitive functions, as they related to hearing, such as figure-background ability (83.0%), auditory attention (75.9%) and auditory memory (33.0%). Complaints related to school performance were reported in 62.3% of the cases. Conclusions: The data obtained show a high frequency of lag symptoms in cognitive functions related to central auditory processing, particularly with regard to auditory attention, figure-background ability and auditory memory in patients with congenital hypothyroidism.

Etiología y evolución de recién nacidos con hipotiroidismo congénito y glándula eutópica / Etiology and evolution of newborns with congenital hypothyroidism and eutopic thyroid gland

RESUMEN Objetivos Analizar las características clínicas, bioquímicas, estudios complementarios, hallazgos moleculares y la prevalencia de glándula eutópica en neonatos con HC pertenecientes al Programa Provincial de Pesquisa Neonatal de Córdoba, Argentina, entre 1996 y 2015. Analizar la evolución de los pacientes que reunieron criterios para una reevaluación. Pacientes y métodos Se analizaron retrospectivamente las historias clínicas de 237 pacientes detectados por pesquisa neonatal en la provincia de Córdoba, Argentina, entre 1996-2015 con una incidencia promedio de 1/2146 pesquisados. Presentaron glándula eutópica 81 pacientes (34%) F35/M46; se excluyeron 10 con síndromes genéticos asociados. Se analizaron los niveles de: TSH, T4T, T4L, T3, TPOAb / TGAb y Tiroglobulina (ECLIA -ROCHE) (VR: >15 días: 6-83 ng/ ml; <15 días: 29-173 ng/ml), ecografía y centellografía de cuello con Tc-99m. El valor de corte de TSH sérica adoptado para la confirmación diagnóstica fue de ≥10 mUI/ml. Se realizaron estudios de biología molecular en casos seleccionados. Se reevaluaron niños mayores de 3 años, sin bocio, con valores normales de Tiroglobulina y sin requerimiento de incrementos en la dosis de LT4. Resultados: La prevalencia de HC y Tiroides Eutópica se mantuvo constante. El 50% de los pacientes (36/71) mostraron hiperplasia glandular tiroidea. El 84% (n: 60 de 71) presentó niveles de TSH sérica ≥20 uUI/ml (20-1186) y el 75% (n: 53 de 71) >40 uUI/ml (40-1186). TGAb and TPOAb fueron positivos en un niño. La determinación de TG fue normal en el 29% (21/71) de los casos, elevada en el 56% (39/71) y baja en el 14% (10/71). Los estudios de biología molecular resultaron diagnósticos en 26 pacientes de 18 familias, demostrándose mutaciones en los genes de: TPO: 9 pacientes, TG: 12 pacientes, NIS: 2 pacientes, DUOX2: 2 pacientes y TRβ: 1 paciente. Se encontraron 11 nuevas mutaciones: tres en TPO, cinco en TG, dos en NIS y una en DUOX2. Se informaron anomalías congénitas en el 11% (8/71) de los pacientes. Se reevaluó el 11% (8/71) de los niños, resultando: HC transitorio n: 5, permanente n: 2 y una niña con Síndrome de Resistencia a las Hormonas Tiroideas. La prevalencia de lactantes con HC y glándula eutópica se mantuvo constante a lo largo de 19 años del Programa. Conclusiones Nuestros estudios demuestran que la prevalencia de Hipotiroidismo Congénito con glándula eutópica se mantuvo estable en los períodos analizados. Este grupo de pacientes se caracterizó predominantemente por presentar HC de carácter permanente acompañado por fenotipos de moderada a severa intensidad. En el futuro deberá profundizarse el conocimiento respecto a la influencia de factores medioambientales, como posibles agentes de riesgo asociados a la génesis de Hipotiroidismo Congénito.

abstract Objectives To describe clinical, biochemical characteristics and complementary studies to diagnosis, molecular findings and the prevalence of eutopic gland in newborn with CH detected through our neonatal screening program in Córdoba, Argentina, between 1996 and 2015. To analyze the evolution of the patients who met criteria for re-evaluation. Patients and methods We retrospectively analysed medical records of 237 patients with CH detected by neonatal screening in Córdoba, Argentina, from 1996 to 2015 with an average incidence of 1/2146 researched. 81 patients (34%) F35/M46 had eutopic thyroid gland; 10 patients with associated genetic syndromes were excluded. TT4, FT4, T3, TSH, TPOAb, TGAb and Thyroglobulin (VR: >15 days: 6-83 ng/ml; <15 days: 29-173 ng/ml) (ECLIA ROCHE), thyroid ultrasonography and 99Tc scan were assessed. The serum TSH cutoff value adopted for diagnostic confirmation was ≥10 mIU/ml. Molecular biology studies were performed in selected cases. Those who had no goiter, with normal thyroglobulin, and had not required increases in L-T4 dose underwent re-evaluation after the age of 3 years. Results The prevalence of HC and thyroid Eutopic remained constant. 50% of the patients (36/71) showed glandular hyperplasia. In 84% (60/71) presented serum TSH levels ≥20 uUI/ml (20-1186) and in 75% (n: 53 of 71) levels >40 uUI/ml (40-1186). TGAb and TPOAb were positive only in one baby. TG levels were: normal in 29% (21/71) of the cases, elevated in 56% (39/71) and low in 14% (10/71). Gene mutations were found in 26 patients from 18 families: TPO: 9 patients, TG: 12 patients, NIS: 2 patients, DUOX2: 2 patients y TRβ: 1 patient. Eleven new mutations were found: three in TPO, five in TG, two in NIS and one in DUOX2. Congenital anomalies were reported in 11% (8/71) patients. The 11% (8/71) of children were re-evaluated resulting in: 5 Transient CH, 2 Permanent CH and 1 with Resistance to Thyroid Hormones. The prevalence of infants with CH and eutopic gland remained constant along 19 years of the Program. Conclusions Our studies show that the prevalence of congenital hypothyroidism with eutopic gland remained stable in the periods analyzed. This group of patients was predominantly characterized by permanent CH accompanied by moderate to severe phenotypes. In the future, knowledge about the influence of environmental factors, as possible risk agents associated with the genesis of Congenital Hypothyroidism, should be deepened.

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.

Alteraciones del neurodesarrollo en pacientes con hipotiroidismo congénito: Recomendaciones para el seguimiento / Neurodevelopmental assessment of patients with congenital hypothyroidism

Congenital hypothyroidism (CH) is the most common cause of preventable cognitive disability worldwide. Generally, it is produced by an alteration in the embryogenesis of the thyroid gland or by an alteration in the synthesis of thyroid hormones, which determine that affected patients have low or absent thyroid hormone concentrations. The importance of this fact is that brain development during the first three years of life is highly dependent on thyroid hormones. Prior to the implementation of national neonatal screening programs around the world, 8 to 27% of children with CH had an IQ lower than 70. Nowadays, this percentage is close to 0 in countries that have implemented the program. In Chile, CH neonatal screening program achieved national coverage in 1996. Currently, the incidence of the disease in our country is 1: 3163. The degree of disability produced by CH not only depends on the time of detection of the disease and the prompt start of therapy, but also on an adequate monitoring. Despite screening programs, neurocognitive impairment in schoolchildren and teenagers with CH is still observed, reflected in lower scores in cognitive, language and gross motor assessments, receptive communication, expressive communication, fine motor and gross motor skills compared to healthy children. Also, lesser achievements in learning and language disorders are observed. The objective of this review is to update the information available on neurodevelopment of patients with CH.

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.

Evolution to permanent or transient conditions in children with positive neonatal TSH screening tests in Sergipe, Brazil

ABSTRACT Objectives To assess the evolution to permanent or transient conditions in children with positive neonatal TSH tests in Sergipe, Brazil, from 2004 to 2010. Subjects and methods Out of 193,794 screened newborns, 713 presented a neonatal TSH level higher than the local cutoff (5.2 µU/mL). From the confirmatory serum TSH values, the children were diagnosed with initial congenital hypothyroidism (CH) or suspect CH. From the evolution, they were classified as permanent CH, hyperthyrotropinemia, or transient TSH elevation. The mean incidence of each final condition was calculated for the total period of time. Results The initial diagnosis included 37 CH (18.1%) and 167 suspect CH (81.9%) cases. The final diagnosis included 46 cases of permanent CH (22.5%), 56 of hyperthyrotropinemia (27.5%), and 102 of transient TSH elevation (50.0%). Out of the 37 cases of initial CH, 23 (62.2%) had permanent CH, nine (24.3%) had hyperthyrotropinemia, and five (13.5%) had transient TSH elevation. Out of the 167 suspect CH cases, 23 (13.8%) had permanent CH, 47 (28.1%) had hyperthyrotropinemia and 97 (58.1%) had transient TSH elevation. The mean incidence after the follow up was 1:4,166 for permanent CH, 1:3,448 for hyperthyrotropinemia, and 1:1,887 for transient TSH elevation. Eighty-six percent of the children with an initial diagnosis of CH and 41.9% with suspect CH had a permanent condition (CH or hyperthyrotropinemia). Conclusions The follow-up of children with an initial diagnosis of CH or suspect CH is necessary to determine whether the disorder is permanent because predicting the evolution of the condition is difficult.

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.

Características neuropsicológicas del niño preescolar con hipotiroidismo congénito en la Provincia de Cienfuegos / Neuropsychological characteristic of preschooler children’s with congenital hypothyroidism in Provincia de Cienfuegos

El hipotiroidismo congénito es la causa más frecuente de retraso mental previsible. El diagnóstico clínico en las primeras etapas de la vida es muy impreciso, de ahí que se hayan puesto en marcha programas de diagnóstico y tratamiento precoz cuyo objetivo fundamental es un desarrollo neurocognitivo y su nivel optimización. Método y objetivos: Con el objetivo de evaluar el perfil neurocognitivo en niños hipotiroideos en edad preescolar se realizó un estudio descriptivo prospectivo que incluyó a los pacientes en edades entre 4 a 6 años con seguimiento en consulta de hipotiroidismo congénito del Hospital Pediátrico “Paquito González Cueto” de Cienfuegos. Solo existían 6 niños a los cuales se les aplicó la batería neuropsicológica Luria Inicial, rendimiento intelectual, escala de comportamiento y potenciales evocados. Resultados: Se constató que estos pacientes presentan limitaciones en el sistema óptico- espacial y en el sistema de control inhibitorio. El primero afecta el desarrollo de la orientación espacial del acto motor y la percepción visual con detalles y el otro sistema afecta el control atencional en la edad y conlleva a dificultades para seguir instrucciones verbales. Recomendación: El seguimiento y la vigilancia del neurodesarrollo permiten ir explicando las alteraciones sistemáticas que se presentan en estos niños y hace posible una intervención temprana a favor del posterior proceso de escolarización.

The congenital hipotiroidismo is the most frequent cause of foreseeable mental delay. The clinical diagnosis in the first stages of the life is very vague, for that reason diagnostic programs and precocious treatment have started up whose main target is a neurocognitivo development and its level optimization. Method and objectives: With the aim of evaluating the neurocognitivo profile in hypothyroid children in pre-school age a prospective descriptive study was realised that it included to the patients in ages between 4 to 6 years with pursuit in consultation of congenital hipotiroidismo of the Paediatric Hospital “Paquito González Fortified height” of Cienfuegos. 6 children only existed to who he was applied the neuropsicológica battery Initial Luria, intellectual yield, evoked scale of behavior and potentials to them. Results: It was stated that these patients present/display limitations in the space optical system and in the inhibiting control system. First it affects the development of the spatial orientation of the motor act and the visual perception with details and the other system affects the attention control in the age and entails to difficulties to follow instructions verbal. Recommendation: The pursuit and the monitoring of neurodesarrollo allow to be explaining the systematic alterations that appear in these children and makes an early intervention in favor of the later process possible of schooling.

Communicative and psycholinguistic abilities in children with phenylketonuria and congenital hypothyroidism

The Neonatal Screening for Inborn Errors of Metabolism of the Association of Parents and Friends of Special Needs Individuals (APAE) - Bauru, Brazil, was implanted and accredited by the Brazilian Ministry of Health in 1998. It covers about 286 cities of the Bauru region and 420 collection spots. Their activities include screening, diagnosis, treatment and assistance to congenital hypothyroidism (CH) and phenylketonuria (PKU), among others. In 2005, a partnership was established with the Department of Speech-Language Pathology and Audiology, Bauru School of Dentistry, University of São Paulo, Bauru, seeking to characterize and to follow, by means of research studies, the development of the communicative abilities of children with CH and PKU. OBJECTIVE: The aim of this study was to describe communicative and psycholinguistic abilities in children with CH and PKU. MATERIALS AND METHODS: Sixty-eight children (25 children aged 1 to 120 months with PKU and 43 children aged 1 to 60 months with CH) participated in the study. The handbooks were analyzed and different instruments were applied (Observation of Communication Behavior, Early Language Milestone Scale, Peabody Picture Vocabulary Test, Gesell & Amatruda's Behavioral Development Scale, Portage Operation Inventory, Language Development Evaluation Scale, Denver Developmental Screening Test, ABFW Child Language Test-phonology and Illinois Test of Psycholinguistic Abilities), according to the children's age group and developmental level. RESULTS: It was observed that the children with PKU and CH at risk for alterations in their developmental abilities (motor, cognitive, linguistic, adaptive and personal-social), mainly in the first years of life. Alterations in the psycholinguistic abilities were also found, mainly after the preschool age. Attention deficits, language and cognitive alterations were more often observed in children with CH, while attention deficits with hyperactivity and alterations in the personal-social, language and motor adaptive abilities were more frequent in children with PKU. CONCLUSION: CH and PKU can cause communicative and psycholinguistic alterations that compromise the communication and affect the social integration and learning of these individuals, proving the need of having these abilities assisted by a speech and language pathologist.

Habilidades do desenvolvimento em crianças com hipotireoidismo congênito: enfoque na comunicação / Development skills in children with congenital hypothyroidism: focus on communication

TEMA: o hipotireoidismo congênito pode acarretar alterações no desenvolvimento global infantil. OBJETIVO: traçar o perfil do desenvolvimento em crianças com hipotireoidismo congênito, enfocando a comunicação, e verificar influências da história clínica no perfil traçado. MÉTODO: foram avaliadas, por meio da Early Language Milestone Scale (ELM) e do Inventário Portage Operacionalizado (IPO), 35 crianças de 2 a 36 meses com hipotireoidismo congênito detectado na triagem neonatal, que realizavam tratamento com reposição hormonal há pelo menos um mês. A história clínica foi obtida por meio de entrevista com familiares e análise de prontuário. RESULTADOS: na ELM, onze crianças apresentaram desempenho alterado na função auditiva expressiva, duas na visual e uma na auditiva receptiva. No IPO, sete crianças apresentaram desempenho alterado na área da linguagem, cinco na cognitiva, quatro nas áreas motora e social e três na de autocuidados. Não houve correlação entre os resultados e a história clínica. CONCLUSÃO: a maioria das crianças apresentou desempenho adequado para as habilidades avaliadas. Paras as crianças com desempenho alterado, observou-se maior déficit na área de linguagem, nos aspectos expressivos, e na área cognitiva. Não ficou comprovada a influência da história clínica no perfil do desenvolvimento. Observou-se, entretanto, tendência para desempenho adequado nas habilidades avaliadas entre as crianças que realizaram a triagem neonatal, receberam o diagnóstico e o tratamento para o hipotireoidismo congênito mais precocemente e que receberam dosagem mais elevada de levotiroxina no início do tratamento. Ressaltase a importância do acompanhamento fonoaudiológico longitudinal do desenvolvimento da comunicação nessa população.

BACKGROUND: congenital hypothyroidism may cause alterations in the child's global development. AIM: to outline the development profile in children with congenital hypothyroidism, focusing on communication, and to verify the influence of clinical history on the outlined profile. METHOD: 35 children, with ages between 2 to 36 months, with congenital hypothyroidism detected by neonatal screening, and who were in treatment for at least one month using hormonal replacement were assessed using the Early Language Milestone Scale (ELM) and the Portage Operation Inventory (POI). The clinical history was obtained in an interview with the family and from the analysis of medical records. RESULTS: in the ELM, eleven children presented a poor performance in the expressive auditory function, two in the visual function and one in the receptive auditory function. In the POI, seven children presented a poor performance in the language section, five in cognitive section, four in the motor and social sections and three in the self-care section. There was no correlation between the results obtained in the assessments and the clinical history. CONCLUSION: most of the children presented adequate performances in the evaluated skills. For the children with altered performance, larger deficits were observed in the language section, for the expressive aspects, and in the cognitive section. The influence of clinical history on the development profile was not confirmed. However, a tendency for an adequate performance was observed in those children who underwent neonatal screening, received an early diagnosis and treatment for the congenital hypothyroidism and who received higher doses of thyroxine at the beginning of treatment. The importance of a speech-language follow-up for communication development in this population is highlighted.

Densidade mineral óssea de crianças e adolescentes com hipotireoidismo congênito / Bone mineral density of children and adolescents with congenital hypothyroidism

Realizou-se estudo transversal com 60 pacientes (9,9 ± 1,8 anos) com hipotireoidismo congênito (HC) (grupo A): 40 meninas (23 pré-púberes) e 20 meninos (18 pré-púberes), com grupo controle (grupo B) constituído por 28 indivíduos (10,4 ± 2,1 anos): 18 meninas (8 pré-púberes) e 10 meninos (9 pré-púberes). OBJETIVOS: Avaliar a densidade (DMO) e o conteúdo mineral ósseo (CMO) e correlacioná-los com idade cronológica e óssea (IO), sexo, maturação sexual, dose de l-T4, TSH, TT4, FT4, e etiologia do HC. IO, DMO e CMO de corpo total (DXA) foram obtidos dos 2 grupos; TSH, TT4 e FT4, apenas dos pacientes. DMO foi menor no grupo A (0,795 ± 0,075 g/cm² vs. 0,832 ± 0,092; p = 0,04) e maior nas meninas púberes do que nas pré-púberes (p = 0,004). Não houve diferença significativa de DMO e CMO quanto ao sexo e etiologia do HC. Nosso estudo mostra que a DMO foi significativamente menor no grupo com HC, diferente dos dados da literatura.

A cross sectional study was made on 60 patients (9.9 ± 1.8 yr-old) with congenital hypothyroidism (CH) (group A): 40 girls (23 prepubertal) and 20 boys (18 prepubertal). Control group (group B) was constituted of 28 healthy children (10.4 ± 2.1 yr-old): 18 girls (8 prepubertal) and 10 boys (9 prepubertal). AIMS: To evaluate bone mineral density (BMD) and content (BMC) and to correlate them with chronological and bone age (BA), sex, sexual maturation, l-T4 dose, TSH, TT4, FT4, and CH etiology. BA, total body BMD, and BMC (DXA) were obtained of both groups. TSH, TT4, and FT4 were measured in patients only. BMD was lower in group A (0.795 ± 0.075 g/cm² vs. 0.832 ± 0.092; p = 0.04) and higher in pubertal than in prepubertal girls (p = 0.004). There was no significant difference between BMD and BMC related to sex and CH etiology. Our data demonstrated that BMD was significantly lower in children with CH, different from what has been published in the literature.

Hipotiroidismo neonatal: fisiopatogenia, aspectos moleculares, metabólicos y clínicos / Neonatal hypothyroidism: Pathophysiogenic, molecular and clinical aspects

This review provides an updated summary on both the clinical and diagnostic aspects of neonatal hypothyroidism (NeH); as well as on the molecular and pathophysiologic processes known to be involved in the installment of this important hormonal deficiency. Current information regarding its etiology and pathogenesis has allowed classigying NeH in three major groups: endemic, transient, and sporadic hypothyroidism. The later corresponds to congenital hypothyroidism and encompasses a broad spectrum of hereditary disorders causing hypothyroidism in newborns and young children. These congenital disorders include hypothalamic-pituitary or thyroid dysgenesis and/or dyshormonogenesis, as well as hyporesponsiveness or resistance to either TRH, TSH or to thyroid hormones. The introduction of national screening programs for NeH have overcome the difficulties in the early diagnosis thus helping to prevent its serious and irreversible consequences on intellectual and physical development. Concomitantly, an increase in the need for complementary etiologic and molecular diagnosis has risen. The current capability to perform a fine and precise diagnose is crucial both for treatment of the affected infant and for genetic counseling of the family. Although incomplete, available epidemiological information in Mexico indicates that NeH prevalence can be as high as twice that in other developed world countries. On these bases, national public health policies and epidemiological surveyance must be strengthen not only to identify, diagnose and timely treat, but to prevent and eradicate endemic NeH.

Este trabajo revisa algunos aspectos del conocimiento actual sobre la fisiopatogenia, los hallazgos clínicos y el diagnóstico bioquímico y molecular del hipotiroidismo neonatal (HNe). El término HNe denota un conjunto de entidades clínicamente pleomórficas, que invariablemente cursan con una disminución en el aporte; o bien, en la disponibilidad celular y/o en la respuesta a las hormonas tiroideas (HT) durante la etapa perinatal. Las HT o yodotironinas son indispensables para la morfogénesis y maduración funcional normal de prácticamente todos los tejidos en el organismo, y su participación es crucial en el caso del sistema nervioso. La información actual permite realizar una clasificación del HNe tanto en términos etio y fisiopatogénicos, como en el contexto del substrato genético que los determina. Así, se reconocen tres grandes tipos de HNe: el endémico, el transitorio y el esporádico. Este último grupo de HNe incluye los defectos hipotálamo-hipofisiarios, los trastornos ontogenéticos o disgenesias tiroideas, la resistencia periférica a las HT y las dishormonogénesis. Por otra parte, en la comunidad internacional existe una creciente preocupación por la contaminación ambiental debida a órgano-halógenos antropogénicos. Estos compuestos han mostrado su potencial como agentes distiroideos en animales de experimentación y en algunos estudios clínicos. En México, tanto la distribución geográfica y prevalencia del HNe, como la deficiencia de yodo y otros micronutrimentos en la dieta, se han analizado de manera esporádica y no sistemática. Aunque incompleta, la información disponible sugiere que en nuestro país la prevalencia de HNe es sensiblemente mayor que la reportada mundialmente. Contar con información completa y confiable acerca de estos aspectos no es trivial, puesto que su conocimiento permitirá establecer políticas razonadas de salud pública para identificar, diagnosticar y tratar oportunamente el padecimiento; así como para prevenir y erradicar el HNe endémico.

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