The purpose of this study was to provide an insight about different types of schooling of disabled children affected by a rare disease across Europe and to evaluate their and caregivers' well-being. We analysed data from a cross-sectional study (BURQOL-RD) of persons with rare diseases that ...
Children with rare diseases experience challenges at home and school and frequently require multi-disciplinary healthcare. We aimed to determine health ser
Parental Intervention Program for Preschool children with Rare Diseases – a mixed methods evaluation of parents’ experiences and utility 2023, Orphanet Journal of Rare Diseases Show abstract Navigating the Unique Challenges of Caregiving for Children with Rare Diseases: Are the Care Experiences of All...
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 ...
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, ...
Navigate Life Texas- Information about resources available to Texas families who have a child with special needs. National Organization for Rare Diseases(NORD) -800-999-6973- Support for individuals with rare diseases by advocating and funding research, education, and networking among service providers...
Patients and families with rare genetic disorders, and people who have not developed a rare genetic disorder but carry a gene mutation, often give up trying to have a child. That’s because they think they will not be able to give birth to a healthy chil
Neonatal Hearing Screening Center, Neonatal Disease Consultation Center, Children's Rare Diseases Consultation Center and other regional diagnosis and treatment centers, to provide a full range of medical, health care and rare disease diagnosis and treatment services for women and children in Qingdao and...
For children with achondroplasia, the most common type of dwarfism, scientists are exploring new ways to restore bone growth and potentially address some of the major health complications with the condition, such as spinal problems, swelling in the bra
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