Assessing Children With Disabilities Using WHO International Classification of Functioning, Disability and Health Child and Youth Version Activities and Participation D Codes

Aim: Evaluation of the International Classification of Functioning, Disability and Health child and youth version (ICF-CY) activities and participation d code functions in clinical practice with children across diagnoses, disabilities, ages, and genders. Methods: A set of 57 codes were selected and worded to describe children’s support needs in everyday life. Parents of children aged 1 to 15 years participated in interviews to discuss and rate their child’s disability. Results: Of 367 invited parents, 332 (90.5%) participated. The mean age of their children with disability was 9.4 years. The mean code scores were 50.67, the corrected code–total correlations were .76, intercode correlations had the mean of 0.61, and Cronbach’s α was .98. As a result of Rasch analysis, graphical data for disability measures paralleled clinical expectations across the total population of 332 children. Conclusion: The World Health Organization International Classification of Functioning, Disability and Health child and youth version d code data can provide a coherent measure of severity of disability in children across various diagnoses, ages, and genders

A Dominant Mutation in the Gene Encoding the Erythroid Transcription Factor KLF1 Causes a Congenital Dyserythropoietic Anemia

The congenital dyserythropoietic anemias (CDAs) are inherited red blood cell disorders whose hallmarks are ineffective erythropoiesis, hemolysis, and morphological abnormalities of erythroblasts in bone marrow. We have identified a missense mutation in KLF1 of patients with a hitherto unclassified CDA. KLF1 is an erythroid transcription factor, and extensive studies in mouse models have shown that it plays a critical role in the expression of globin genes, but also in the expression of a wide spectrum of genes potentially essential for erythropoiesis. The unique features of this CDA confirm the key role of KLF1 during human erythroid differentiation. Furthermore, we show that the mutation has a dominant-negative effect on KLF1 transcriptional activity and unexpectedly abolishes the expression of the water channel AQP1 and the adhesion molecule CD44. Thus, the study of this disease-causing mutation in KLF1 provides further insights into the roles of this transcription factor during erythropoiesis in humans