Epilepsia dependiente de piridoxina por deficiencia en el gen PNPO / Pyridoxine-dependent epilepsy due to deficiency in the PNPO gene

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Desarrollo psicomotor en prematuros tardíos a los dos años de edad: comparación con recién nacidos a término mediante dos herramientas diferentes / Psychomotor development in late preterms at two years of age: a comparison with full-term newborn infants using two different instruments

Introducción. Los prematuros tardíos constituyen actualmente el 70% de los nacimientos prematuros. Presentan mayor comorbilidad, incluyendo las alteraciones del neurodesarrollo, que pueden no manifestarse hasta la escolarización. Objetivo. Identificar dificultades en el desarrollo neurológico a los dos años de edad. Sujetos y métodos. Se valoró el desarrollo psicomotor a los dos años de los prematuros tardíos y del grupo control a término nacidos en nuestro centro entre enero y septiembre del año 2014 mediante la escala de Brunet-Lézine revisada y el cuestionario de edades y etapas para la detección de trastornos del neurodesarrollo Ages & Stages Questionnaires (ASQ-3). Resultados. Se incluyó a 88 niños. Los prematuros tardíos presentaron puntuaciones inferiores en el lenguaje y el desarrollo postural. Las niñas obtuvieron resultados superiores en la edad de desarrollo global, la coordinación oculomotriz, el lenguaje y la sociabilidad. El cuestionario ASQ-3 detectó las diferencias en comunicación y socioindividuales. Se identificaron como factores de riesgo para presentar alteración del desarrollo la prematuridad, para alteración del lenguaje, y el sexo masculino, para menor edad de desarrollo y alteración del lenguaje. La correlación entre la valoración del lenguaje con la escala de Brunet-Lézine revisada y el cuestionario ASQ-3 fue buena, con un coeficiente de correlación de Pearson de 0,7 (p < 0,001), lo que nuestra la utilidad del cuestionario. Conclusiones. Los prematuros tardíos presentan menor desarrollo del lenguaje a los dos años. La prematuridad y el sexo masculino son factores de riesgo para presentar alteración. La valoración del lenguaje con el cuestionario ASQ-3 puede ser útil para detectar alteraciones

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 & 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

Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.

Stroke-like episodes (SLE) occur in phosphomannomutase deficiency (PMM2-CDG), and may complicate the course of channelopathies related to Familial Hemiplegic Migraine (FHM) caused by mutations in CACNA1A (encoding CaV2.1 channel). The underlying pathomechanisms are unknown. We analyze clinical variables to detect risk factors for SLE in a series of 43 PMM2-CDG patients. We explore the hypothesis of abnormal CaV2.1 function due to aberrant N-glycosylation as a potential novel pathomechanism of SLE and ataxia in PMM2-CDG by using whole-cell patch-clamp, N-glycosylation blockade and mutagenesis. Nine SLE were identified. Neuroimages showed no signs of stroke. Comparison of characteristics between SLE positive versus negative patients' group showed no differences. Acute and chronic phenotypes of patients with PMM2-CDG or CACNA1A channelopathies show similarities. Hypoglycosylation of both CaV2.1 subunits (α1A and α2α) induced gain-of-function effects on channel gating that mirrored those reported for pathogenic CACNA1A mutations linked to FHM and ataxia. Unoccupied N-glycosylation site N283 at α1A contributes to a gain-of-function by lessening CaV2.1 inactivation. Hypoglycosylation of the α2δ subunit also participates in the gain-of-function effect by promoting voltage-dependent opening of the CaV2.1 channel. CaV2.1 hypoglycosylation may cause ataxia and SLEs in PMM2-CDG patients. Aberrant CaV2.1 N-glycosylation as a novel pathomechanism in PMM2-CDG opens new therapeutic possibilities.