Search results for "Intellect"

showing 2 items of 642 documents

The Social Networks of People with Intellectual Disabilities during the On-Campus Supported Adult Education Programme

2016

This article describes the social networks of four young people with intellectual disabilities in supported adult education, focusing on their inclusion in school and leisure environments. A multiple case study approach with content analysis was used. Data were collected through interviews with young people and their family members, relationship maps, observation journals and notes from Personal Futures Planning meetings. Relationships with family members, other relatives and neighbours were close. One participant had a friend of her own age with no disabilities. The other three had varying, superficial peer relationships and friends of the family. All the participants had heterogeneous rel…

ystävyyssosiaaliset verkostotintellectual disabilityinkluusiorelationship maps
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WDR45 Gene and Its Role in Pediatric Epilepsies

2021

AbstractWD repeat domain 45 (WDR45) gene has been increasingly found in patients with developmental delay (DD) and epilepsy. Previously, WDR45 de novo mutations were reported in sporadic adult and pediatric patients presenting iron accumulation, while heterozygous mutations were associated with β-propeller protein-associated neurodegeneration (BPAN), a subtype of neurodegeneration with brain iron accumulation disorders, characterized by extrapyramidal movement disorders and abnormal accumulation of iron in the basal ganglia. Overall, people harboring WDR45 mutations have moderate to severe DD and different types of seizures. The phenotype of adult patients is characterized by extrapyramidal…

β-propeller proteinassociated neurodegeneration0301 basic medicinemedicine.medical_specialtyEpilepsybusiness.industryIronWDR45Intellectual disabilitymedicine.disease03 medical and health sciencesEpilepsy030104 developmental biology0302 clinical medicineWDR45Pediatrics Perinatology and Child HealthIntellectual disabilitymedicineNeurology (clinical)PsychiatrybusinessGene030217 neurology & neurosurgeryJournal of Pediatric Neurology
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