RESUMO
INTRODUCTION: Late preterm infants currently constitute 70% of preterm infant births. They present greater comorbidity, including neurodevelopment disorders, which may not manifest until the school age. AIM: To identify the existence of difficulties in the neurodevelopment at the age of two years. SUBJECTS AND METHODS: The psychomotor development was performed at two years of age in late preterm infants and term control group born at our center between January and September 2014, with Brunet-Lezine Revised test and Ages and Stages Questionnaires (ASQ-3) questionnaire. RESULTS: 88 children were included. Late preterm infants had lower scores in the language area and postural developmental. Girls achieved better results than males at global developmental age, oculo-motor coordination, language area and sociability. The ASQ-3 questionnaire detected differences in communication and socio-individual. Prematurity and male sex were identified as an independent risk factor to present a developmental disorder, prematurity for language impairment and male sex for younger developmental age and language impairment. The correlation between language assessment with the Brunet-Lezine Revised test and the ASQ-3 questionnaire was good, with a Pearson correlation coefficient of 0.7 (p < 0.001), showing the usefulness of the questionnaire. CONCLUSIONS: Late preterm infants have a lower developmental age in the language area at two years. Prematurity and male sex are risk factors for developmental disorder. Language assessment with the ASQ-3 questionnaire may be a useful tool to detect disorders and intervene early.
TITLE: Desarrollo psicomotor en prematuros tardios a los dos años de edad: comparacion con recien nacidos a termino mediante dos herramientas diferentes.Introduccion. Los prematuros tardios constituyen actualmente el 70% de los nacimientos prematuros. Presentan mayor comorbilidad, incluyendo las alteraciones del neurodesarrollo, que pueden no manifestarse hasta la escolarizacion. Objetivo. Identificar dificultades en el desarrollo neurologico a los dos años de edad. Sujetos y metodos. Se valoro el desarrollo psicomotor a los dos años de los prematuros tardios y del grupo control a termino nacidos en nuestro centro entre enero y septiembre del año 2014 mediante la escala de Brunet-Lezine revisada y el cuestionario de edades y etapas para la deteccion de trastornos del neurodesarrollo Ages and Stages Questionnaires (ASQ-3). Resultados. Se incluyo a 88 niños. Los prematuros tardios presentaron puntuaciones inferiores en el lenguaje y el desarrollo postural. Las niñas obtuvieron resultados superiores en la edad de desarrollo global, la coordinacion oculomotriz, el lenguaje y la sociabilidad. El cuestionario ASQ-3 detecto las diferencias en comunicacion y socioindividuales. Se identificaron como factores de riesgo para presentar alteracion del desarrollo la prematuridad, para alteracion del lenguaje, y el sexo masculino, para menor edad de desarrollo y alteracion del lenguaje. La correlacion entre la valoracion del lenguaje con la escala de Brunet-Lezine revisada y el cuestionario ASQ-3 fue buena, con un coeficiente de correlacion de Pearson de 0,7 (p < 0,001), lo que muestra la utilidad del cuestionario. Conclusiones. Los prematuros tardios presentan menor desarrollo del lenguaje a los dos años. La prematuridad y el sexo masculino son factores de riesgo para presentar alteracion. La valoracion del lenguaje con el cuestionario ASQ-3 puede ser util para detectar alteraciones.
Assuntos
Recém-Nascido Prematuro/crescimento & desenvolvimento , Transtornos do Neurodesenvolvimento/epidemiologia , Desempenho Psicomotor/fisiologia , Pré-Escolar , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Masculino , Fatores de Risco , Inquéritos e Questionários , Nascimento a TermoRESUMO
TITLE: Mutacion puntual de novo en el gen KCND3 en un paciente con ataxia cronica de inicio precoz.
Assuntos
Ataxia/genética , Mutação , Canais de Potássio Shal/genética , Idade de Início , Doença Crônica , Humanos , Lactente , MasculinoRESUMO
TITLE: Epilepsia dependiente de piridoxina por deficiencia en el gen PNPO.
Assuntos
Encefalopatias Metabólicas/genética , Cromossomos Humanos Par 17/genética , Epilepsia/genética , Hipóxia-Isquemia Encefálica/genética , Mutação de Sentido Incorreto , Piridoxaminafosfato Oxidase/deficiência , Convulsões/genética , Dissomia Uniparental , Adolescente , Epilepsia/líquido cefalorraquidiano , Epilepsia/tratamento farmacológico , Feminino , Humanos , Polimorfismo de Nucleotídeo Único , Piridoxaminafosfato Oxidase/genética , Piridoxina/uso terapêutico , Tetra-Hidrofolatos/líquido cefalorraquidianoRESUMO
AIMS: To analyze International Classification Diseases, 9th revision (ICD-9) coding and adapt it, on a consensus basis, to 'reasons for medical consultation', 'diagnoses' and 'procedures' in child neurology. MATERIALS AND METHODS: The most frequent reasons for medical consultation, diagnoses and procedures in neuropediatrics were selected and assigned the most appropriate ICD-9, Clinical Modification (5th ed.) (ICD-9-CM) codes in accordance with this system's coding rules. Disorders were grouped by sections, and allocated to the various members of the working group (13 child neurologists from 10 hospitals in Madrid and environs). RESULTS: Available on the web www.neurologia.com/cie-9. ICD-9-CM codes were assigned to: 158 reasons for medical consultation; 886 diagnoses; 73 diagnostic procedures; and 53 therapeutic procedures. In every case, the most appropriate ICD-9 code was sought for the respective diagnosis. No codes were invented but the working group did take certain liberties with interpretation, which nevertheless showed respect for general ICD-9-CM philosophy and are described in full in the text. CONCLUSIONS: The creation of this ICD-9 adaptation will not only enhance diagnostic coding in child neurology departments, but will also provide them with a useful tool for setting up databases to enable information to be retrospectively analyzed and shared by the different health centers.
Assuntos
Classificação Internacional de Doenças , Doenças do Sistema Nervoso/classificação , Neurologia/métodos , Pediatria/métodos , Adolescente , Criança , Pré-Escolar , Grupos Diagnósticos Relacionados , Gerenciamento Clínico , Hospitais Urbanos/estatística & dados numéricos , Humanos , Lactente , Recém-Nascido , Doenças do Sistema Nervoso/diagnóstico , Doenças do Sistema Nervoso/epidemiologia , Doenças do Sistema Nervoso/terapia , Espanha/epidemiologiaRESUMO
This study presents a clinical case about a patient suffering a manic syndrome secondary to neurocysticercosis and no responding to traditional neuroleptic treatment. We administrated the risperidone treatment, that was effective.