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1.
Children (Basel) ; 7(12)2020 Dec 05.
Artigo em Inglês | MEDLINE | ID: mdl-33291494

RESUMO

Very preterm children (<32 weeks gestation at birth; VP) are at risk of developmental difficulties. Specific functional difficulties and delays in visual perception, fine motor, and visual-motor skills have received little research attention, although they are critical for daily life and school readiness. Our aim was to assess these skills in a contemporary cohort of 60 VP and 60 matched term-born children before school entry. We administered the Movement Assessment Battery for Children (M-ABC-2) and the Developmental Test of Visual Perception (DTVP-2). Linear and logistic regressions were run to test group differences in performance and rates of developmental delay in visual perception, fine motor, and visual-motor skills. Very preterm children had lower scores than term-born children in visual perception (ß = -0.25; p = 0.006), fine motor (ß = -0.44; p < 0.001), and visual-motor tasks (ß = -0.46; p < 0.001). The rate of developmental delay (<-1 SD) was higher among VP in visual perception (odds ratio (OR) = 3.4; 95% confidence interval (CI 1.1-10.6)), fine motor (OR = 6.2 (2.4-16.0)), and visual-motor skills (OR = 13.4 (4.1-43.9)) than in term-born controls. VP children are at increased risk for clinically relevant developmental delays in visual perception, fine motor, and visual-motor skills. Following up VP children until preschool age may facilitate early identification and timely intervention.

3.
Mol Genet Metab ; 108(3): 198-200, 2013 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-23357201

RESUMO

Glycogen storage disease Ib is an inborn error of carbohydrate metabolism leading to impaired glycogenolysis and gluconeogenesis. Cardinal symptoms include fasting hypoglycemia, lactic acidosis and hepatomegaly as well as neutropenia. We report for the first time on the development of liver cirrhosis in a nine-year-old boy in the course of glycogen storage disease Ib and discuss possible underlying pathomechanisms.


Assuntos
Doença de Depósito de Glicogênio Tipo I/patologia , Cirrose Hepática/patologia , Fígado/patologia , Criança , Doença de Depósito de Glicogênio Tipo I/complicações , Doença de Depósito de Glicogênio Tipo I/metabolismo , Humanos , Fígado/metabolismo , Cirrose Hepática/complicações , Cirrose Hepática/metabolismo , Transplante de Fígado , Masculino
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