Henri Nouwen's writings provide opportunity for nurses, students, and educators to reflect on nursing in the context of Christian faith. This article offers insight from Nouwen's work and its relevance to intellectual disability nursing practice and education. Five themes are developed from Nouwen's insights: 1) the descending way, 2) insignificance and marginalization, 3) learning to support the person, 4) building relationship, and 5) trusting God will catch you.
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Somatic Instability Leading to Mosaicism in Fragile X Syndrome and Associated Disorders: Complex Mechanisms, Diagnostics, and Clinical Relevance.
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Department of Biochemistry and Molecular Medicine, School of Medicine, University of California Davis, Sacramento, CA 95817, USA.
Fragile X syndrome (FXS) is a genetic condition caused by the inheritance of alleles with >200 CGG repeats in the 5' UTR of the fragile X messenger ribonucleoprotein 1 () gene. These full mutation (FM) alleles are associated with DNA methylation and gene silencing, which result in intellectual disabilities, developmental delays, and social and behavioral issues. Mosaicism for both the size of the CGG repeat tract and the extent of its methylation is commonly observed in individuals with the FM.
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Department of Biomedical and Biotechnological Sciences, Section of Clinical Biochemistry and Medical Genetics, University of Catania, via Santa Sofia, 95123 Catania, Italy.
This study describes two siblings from consanguineous parents who exhibit intellectual disability, microcephaly, photosensitivity, bilateral sensorineural hearing loss, numerous freckles, and other clinical features that suggest a potential disruption of the nucleotide excision repair (NER) pathway. Whole exome sequencing (WES) identified a novel homozygous missense variant in the gene, which was predicted to be pathogenic. However, a subsequent peculiar audiometric finding prompted further investigation, revealing a homozygous deletion in the gene linked to neurosensorial hearing loss.
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Department and Clinic of Rheumatology, Rehabilitation and Internal Diseases, Poznan University of Medical Sciences, 28 Czerwca 1956 r. 135/147, 61-545 Poznań, Poland.
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Institute of Medical Science, Medical College of Rzeszow University, Warzywna 1A, 35-310 Rzeszów, Poland.
: The aim of the study was to determine the frequency of occurrence of a significant health problem-abdominal obesity (AO)-in children and adolescents with intellectual disability (ID) compared to children and adolescents without disabilities, examined in the period 2013-2014. : The study group included 568 students with various ID degrees ( = 265 mild; = 249 moderate; = 54 severe) (age range 7-18 years) attending care and educational facilities. The comparison group (non-ID) was randomly selected based on the principle of matching the group (age and sex) among students without ID.
View Article and Find Full Text PDFComparative Pacing Profile and Chronometric Performance in Elite Swimmers with Intellectual Impairments and Able-Bodied Athletes.
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Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132 Genoa, Italy.
Pacing strategy is a complex self-regulation process, crucial for optimising sports performance. Athletes with Intellectual Impairments (IIs) face unique challenges due to cognitive limitations that may hinder their ability to pace effectively, impacting chronometric performance. This study analysed the pacing profiles and chronometric performance across 253 event entries by elite swimmers with II, divided into three groups: 100 entries for group II1 (intellectual disability), 85 for group II2 (Down syndrome), and 68 for group II3 (autism spectrum disorder).
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