Search results for "Mild learning difficulties"

showing 2 items of 2 documents

The first case of myoclonic epilepsy in a child with a de novo 22q11.2 microduplication

2011

Chromosome 22, particularly the q11.2 sub-band, has long been recognized as responsible for multiple congenital anomaly disorders. In particular, its susceptibility to subtle microdeletions or, more rarely, microduplications has been attributed to the presence of several low-copy repeats spanning the region as mediators of nonallelic homologous recombination that result in 22q11.2 rearrangements. While recent data suggest that the frequency of 22q11.2 microduplications could be approximately half of all deletions, now only 50 unrelated cases have been reported thus far. However, it is reasonable to suppose that microduplications of 22q11.2 may be largely undetected as a result of a less-dis…

MaleChromosomes Human Pair 22Non-allelic homologous recombinationEpilepsies MyoclonicMultiple congenital anomalyBiologyRAB36 genemyoclonic epilepsySettore MED/38 - Pediatria Generale E SpecialisticaChromosome DuplicationGene duplicationClinical heterogeneityGeneticsmedicineHumansChildIn Situ Hybridization FluorescenceGenetics (clinical)GeneticsComparative Genomic HybridizationFaciesmedicine.diseaseMild learning difficultiesdevelopmental delayPhenotypeSettore MED/03 - Genetica MedicaChild PreschoolMyoclonic epilepsynonallelic homologous recombinationChromosome 2222q11.2 microduplicationComparative genomic hybridizationAmerican Journal of Medical Genetics Part A
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What is individual in individualised instruction? Five storylines of meeting individual needs at school

2015

Abstract The purpose of this narrative case study was to examine the meanings and practices of individualised instruction narrated by two seventh-grade Finnish pupils with mild learning difficulties, their mothers, their special education teacher and researchers. The data comprise narrative interviews and field notes. The analysis showed that the narrators had various, even conflicting, experiences of individualisation, which was narrated through five storylines: individual needs as difficulties and limitations; individualisation as the ideal principle for inclusive education; individualisation as a bureaucratic procedure; individualised instruction as making room for emotions, and individu…

media_common.quotation_subjectstoriesinstructionSpecial educationindividualisationIdeal (ethics)Mild learning difficultiesEducationNothingPedagogyta516NarrativeSociologyBureaucracyindividual needsspecial educationmedia_commonInternational Journal of Educational Research
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