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1.
Pediatrics ; 131(2): e486-94, 2013 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-23359579

RESUMEN

OBJECTIVE: Validate a tool to determine neurodevelopmental impairments (NDIs) in >2- to 5-year-old children in a country with limited child development expertise. METHODS: Rapid Neurodevelopmental Assessment (RNDA) is a tool designed to detect functional status and NDIs across multiple neurodevelopmental domains. Validity was determined in 77 children enrolled by door-to-door sampling in Dhaka and who were administered the RNDA by 1 of 6 testers (4 developmental therapists, 2 special education teachers) and simultaneously administered a test of adaptive behavior (AB; Independent Behavior Assessment Scale) and intelligence quotient (IQ) tests (Bayley Scales of Infant Development II, Stanford Binet Intelligence Scale, Wechsler Preschool and Primary Scales of Intelligence) by psychologists. RESULTS: Interrater reliability ranged from good to excellent. There were significant differences in AB in mean percentile scores on the Independent Behavior Assessment Scale for motor (P = .0001), socialization (P = .001), communication (P = .001), and full-scale (P = .001) scores in children with ≥1 NDI ("any NDI") versus no NDI. Significant differences in those with versus those without "any NDI" were found on IQ scores. Sensitivity and specificity for "significant difficulties" (defined as AB z-scores < -2 SDs and/or IQ <70) and "mild difficulties included" (AB z-scores < -1SD and/or IQ <85) were 90% and 60% and 80% and 76%, respectively. CONCLUSIONS: The RNDA validity results are promising for use by child care professionals in field and clinical settings, but the tool needs further replication and refinement for assessment of specific impairments of vision, hearing, and seizures.


Asunto(s)
Países en Desarrollo , Discapacidades del Desarrollo/diagnóstico , Discapacidades del Desarrollo/epidemiología , Tamizaje Masivo , Examen Neurológico/normas , Adaptación Psicológica , Bangladesh , Preescolar , Discapacidades del Desarrollo/etnología , Femenino , Humanos , Pruebas de Inteligencia/estadística & datos numéricos , Masculino , Variaciones Dependientes del Observador , Reproducibilidad de los Resultados , Muestreo
2.
Genetics ; 180(1): 649-60, 2008 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-18757946

RESUMEN

The genome of modern sugarcane cultivars is highly polyploid (approximately 12x), aneuploid, of interspecific origin, and contains 10 Gb of DNA. Its size and complexity represent a major challenge for the isolation of agronomically important genes. Here we report on the first attempt to isolate a gene from sugarcane by map-based cloning, targeting a durable major rust resistance gene (Bru1). We describe the genomic strategies that we have developed to overcome constraints associated with high polyploidy in the successive steps of map-based cloning approaches, including diploid/polyploid syntenic shuttle mapping with two model diploid species (sorghum and rice) and haplotype-specific chromosome walking. Their applications allowed us (i) to develop a high-resolution map including markers at 0.28 and 0.14 cM on both sides and 13 markers cosegregating with Bru1 and (ii) to develop a physical map of the target haplotype that still includes two gaps at this stage due to the discovery of an insertion specific to this haplotype. These approaches will pave the way for the development of future map-based cloning approaches for sugarcane and other complex polyploid species.


Asunto(s)
Diploidia , Genes de Plantas , Poliploidía , Saccharum/genética , Aneuploidia , Paseo de Cromosoma , Cromosomas Artificiales Bacterianos , Clonación Molecular , Marcadores Genéticos , Haplotipos , Modelos Genéticos , Oryza/genética , Mapeo Físico de Cromosoma , Enfermedades de las Plantas/genética , Sorghum/genética
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