The pediatric regulation and orphan regulation (covering rare diseases) were introduced to address the complexities in research and development of medicines specifically for children and for people living with a
Rare Mamas, by Nikki McIntosh, helps mothers of children with rare diseases navigate rare-disease parenting, and moves them from distress to prowess.
Children with rare diseases, especially those with severe functional impairment have an enormous impact on health services, and better integrated multidisciplinary services with patient-centered care are needed. Access must be improved for children living in rural and remote settings. We thank all famili...
There are between 6000 and 8000 rare diseases, and it has been estimated that rare conditions may affect as many as 30 million Europeans and 25 million North Americans [15,16]. Hence, many children and their families across the world have to live and cope with the medical, psychological, a...
The majority of rare diseases affect children, most of whom have an underlying genetic cause for their condition. However, making a molecular diagnosis with current technologies and knowledge is often still a challenge. Paediatric genomics is an immature but rapidly evolving field that tackles this ...
Many children expected that they would learn about diseases and disabilities, but after playing part of the game, the participants mentioned that they learned skills as intended by the objectives of the game (See Table 2). The qualitative findings are in line with the scores of the children (...
Correction to: Exploring the support needs of Australian parents of young children with Usher syndrome: a qualitative thematic analysisL. Johansen, F. O’Hare, E. R. Shepard, L. N. Ayton, L. J. Pelentsov, L. S. Kearns & K. L. Galvin Orphanet Journal of Rare Diseases volume 19, ...
NEPTUNE, U54-DK-083912, is a part of the National Institutes of Health (NIH) Rare Disease Clinical Research Network, supported through a collaboration between the Office of Rare Diseases Research, National Center for Advancing Translational Sciences, and the National Institute of Diabetes, Digestive...
Childhood dementias are a group of rare and ultra-rare paediatric conditions clinically characterised by enduring global decline in central nervous system function, associated with a progressive loss of developmentally acquired skills, quality of life an
In children, chronic medical pain is frequent,11 occurring most commonly in children with chronic diseases. The prevalence of pain such as headaches, abdominal pain12 and back pain13 varies from 25 to 46%.14, 15 The prevalence of severe chronic pain and multi-site pain is especially high in...