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A research collaboration between Australia and Israel has identified a genetic variation that influences the severity of symptoms in Rett syndrome.
New guidelines a model for better management of rare conditions
Girls and young women with Rett syndrome are nearly four times more likely to suffer a fracture.
A new study has found that the genetic flaw responsible for Rett syndrome can strike males, even where there isn't a family history of the rare brain disorder.
Down syndrome, also known as Trisomy 21, is one of the most common chromosome abnormalities in humans. It occurs when a child's cells end up with 47 chromosomes instead of the usual 46. Down syndrome causes intellectual disability and other physical and learning challenges.
Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting predominantly females and associated with variants in the MECP2 gene. Recent success in clinical trials have resulted in an expanded use of the Rett Syndrome Behaviour Questionnaire (RSBQ) for clinical and research purposes.
The Sibling Project focuses on children, adolescents and emerging adults who have a sibling with a disability, investigating their mental health, relationships and quality of life.
National Siblings Day is a holiday dedicated to celebrating the bond between siblings. It is a time to recognize the importance of siblings, whether they are brothers, sisters, step-siblings, or even those who feel like family.
The list of The Siblings Project publications
The Siblings Project Gallery