A new UC Davis MIND Institute study offers critical insights into Rett syndrome, a rare genetic condition that affects mostly girls. The research reveals how this condition affects males and females differently, with symptoms ...
Oct 18, 2024
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Rett syndrome is a X-chromosome-linked neurodevelopmental disorder; it can lead to loss of coordination, mobility, ability to speak, and use of the hands, among other symptoms. The syndrome is typically caused by mutations ...
Sep 9, 2024
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One particular protein lies at the heart of brain development. A master regulator of gene expression, it's abundantly present in neurons, and its dysfunction underlies Rett syndrome, a neurological disorder that could lead ...
Aug 26, 2024
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A genetic diagnostic method using a small sample of skin from the upper arm could identify rare neurodevelopmental disorders in a non-invasive way, according to researchers at the University of Adelaide.
Jul 31, 2024
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An experimental cancer drug could make thinking easier for individuals with Rett syndrome, a rare disorder linked to autism, according to new research from the University of California San Diego—a discovery that could lead ...
Jul 25, 2024
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Researchers at the Icahn School of Medicine at Mount Sinai and others have identified a neurodevelopmental disorder, caused by mutations in a single gene, that affects tens of thousands of people worldwide. The work, published ...
May 31, 2024
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Rett syndrome is a rare neurodevelopmental disorder for which there is currently no cure or good therapy. It causes severe physical and cognitive symptoms, including many that overlap with autism spectrum disorder.
May 2, 2024
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Rett syndrome is a rare devastating neurological disorder that primarily affects young girls and manifests as an impaired ability to walk and talk, along with characteristic 'hand-wringing' movements, seizures, and cognitive ...
Oct 30, 2023
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Developing brains become shaped by the sights, sounds, and experiences of early life. The brain's circuits grow more stable as we age. However, some experiences later in life open up opportunities for these circuits to be ...
Oct 4, 2023
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Every cell in our body is able to turn genes (DNA) on or off, producing RNA, but when genes are "turned on" to the wrong level it can result in a variety of health conditions.
May 2, 2023
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Rett syndrome is a neurodevelopmental disorder of the grey matter of the brain that almost exclusively affects females. The clinical features include small hands and feet and a deceleration of the rate of head growth (including microcephaly in some). Repetitive hand movements, such as wringing and/or repeatedly putting hands into the mouth, are also noted. People with Rett syndrome are prone to gastrointestinal disorders and up to 80% have seizures. They typically have no verbal skills, and about 50% of individuals affected are not ambulatory. Scoliosis, growth failure, and constipation are very common and can be problematic.
The signs of this disorder are most easily confused with those of Angelman syndrome, cerebral palsy and autism.
Some argue[citation needed] that it is misclassified as an autism spectrum disorder, just as it would be to include such disorders as fragile X syndrome, tuberous sclerosis, or Down syndrome where one can see autistic features. However, it has been suggested that it be removed from the DSM-5, because it has a specific etiology.
It was first described by Austrian pediatrician Andreas Rett in 1966.
In DSM-IV-TR page 76, Rett's Disorder 299.80 is listed under the broad category of Pervasive Developmental Disorders.
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