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1.
Brain Dev ; 45(3): 171-178, 2023 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-36424235

RESUMEN

OBJECTIVE: This cross-sectional observational study aimed to assess gait performance, its correlation with physical functions, and its dual-task costs in children with Down syndrome (DS), to investigate their gait adaptations. METHODS: Gait performance with or without movie-watching tasks was evaluated in 17 children with DS (age, 6-12 years) and 51 age- and sex-matched controls, using three-dimensional gait analysis. We compared participants' demographics, physical functions, and gait performance without tasks between the two groups. In the DS group, correlations between physical functions, the intelligence quotient, and gait variables were assessed. Dual-task costs for gait variables were also compared between the two groups. RESULTS: Children with DS showed poorer balance function and muscle strength and lower gait quality than the control group. In the DS group, there was a significant positive correlation between gait speed, step length, and intelligence quotient. There were no correlations between the balance function, muscle strength, intelligence quotient, and gait quality. Dual-task costs for gait speed, step length, and cadence were greater in the DS group; however, there was no significant difference in dual-task costs for gait quality between the two groups. CONCLUSION: These findings highlight the importance of providing appropriate interventions for motor functions in school-aged children with DS based on their gait performance in single- and dual-task conditions, as well as on their intelligence quotient.


Asunto(s)
Síndrome de Down , Humanos , Niño , Estudios Transversales , Marcha/fisiología , Cognición/fisiología
2.
Arch Dis Child Fetal Neonatal Ed ; 103(3): F238-F244, 2018 May.
Artículo en Inglés | MEDLINE | ID: mdl-28724545

RESUMEN

OBJECTIVE: To compare magnetic resonance spectroscopy (MRS) metabolite ratios in preterm infants at term-equivalent age with those in term infants and to evaluate the association between MRS metabolites and neurodevelopmental outcomes at 18 months corrected age in preterm infants. DESIGN: We studied infants born at a gestational age <37 weeks and weighing <1500 g during 2009-2013 using MRS at term-equivalent age. Infants with major brain abnormalities were excluded. The ratios of N-acetylaspartate (NAA) to creatine (Cre), NAA to choline-containing compounds (Cho) and Cho to Cre in the frontal white matter and thalamus were measured using multivoxel point-resolved proton spectroscopy sequence. Neurodevelopmental outcomes were assessed at 18 months corrected age. RESULTS: Thirty-three preterm infants and 16 term infants were enrolled in this study. Preterm infants with normal development at 18 months showed significantly lower NAA/Cho ratios in the frontal white matter than term infants. There were no differences in the Cre/Cho ratios between preterm and term infants. At 18 months corrected age, 9 preterm infants with a mild developmental delay showed significantly lower NAA/Cho ratios in the thalamus than 24 preterm infants with normal development. CONCLUSIONS: Preterm infants at term-equivalent age showed reduced MRS metabolites (NAA/Cho) compared with term infants. Decreased NAA/Cho ratios in the thalamus were associated with neurodevelopmental delay at 18 months corrected age in preterm infants.


Asunto(s)
Encéfalo/metabolismo , Desarrollo Infantil , Recien Nacido Prematuro/metabolismo , Espectroscopía de Resonancia Magnética/métodos , Trastornos del Neurodesarrollo/metabolismo , Ácido Aspártico/análogos & derivados , Ácido Aspártico/metabolismo , Colina/metabolismo , Creatina/metabolismo , Femenino , Humanos , Lactante , Recién Nacido , Imagen por Resonancia Magnética/métodos , Masculino , Trastornos del Neurodesarrollo/diagnóstico
3.
Am J Med Genet A ; 173(10): 2635-2640, 2017 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-28856870

RESUMEN

Trisomy 13 (T13) is accompanied by severe complications, and it can be challenging to achieve long-term survival without aggressive treatment. However, recently, some patients with T13 have been receiving home care. We conducted this study to investigate factors related to home health-care transition for patients with T13.We studied 28 patients with T13 born between January 2000 and December 2014. We retrospectively compared nine home care transition patients (the home care group) and 19 patients that died during hospitalization (the discharge at death group). The median gestational age of the patients was 36.6 weeks, with a median birth weight of 2,047 g. Currently, three patients (11%) have survived, and 25 (89%) have died. The home care group exhibited a significantly longer gestational age (38.9 vs. 36.3 weeks, p = 0.039) and significantly larger occipitofrontal circumference Z score (-0.04 vs. -0.09, p = 0.019). Congenital heart defects (CHD) was more frequent in the discharge at death group, with six patients in the home care group and 18 patients in the discharge at death group (67% vs. 95%, p = 0.047), respectively. Survival time was significantly longer in the home care group than in the discharge at death group (171 vs. 19 days, p = 0.012). This study has shown that gestational age, occipitofrontal circumference Z score at birth, and the presence of CHD are helpful prognostic factors for determining treatment strategy in patients with T13.


Asunto(s)
Cromosomas Humanos Par 13/genética , Servicios de Atención de Salud a Domicilio/estadística & datos numéricos , Hospitalización/estadística & datos numéricos , Síndrome de la Trisomía 13/genética , Síndrome de la Trisomía 13/mortalidad , Adulto , Peso al Nacer , Femenino , Edad Gestacional , Humanos , Recién Nacido , Masculino , Pronóstico , Estudios Retrospectivos , Tasa de Supervivencia
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