Rett Syndrome News and Research

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Rett syndrome is a neurological and developmental disorder that mostly occurs in females. Infants with Rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities. For instance, they stop talking even though they used to say certain words. They lose their ability to walk properly. They stop using their hands to do things and often develop stereotyped hand movements, such as wringing, clapping, or patting their hands. Rett syndrome is considered one of the autism spectrum disorders. Most cases of Rett syndrome are caused by a mutation on the MECP2 gene, which is found on the X chromosome.

Rare variants in the YKT6 gene cause new neurological disorder, study finds

A recent collaborative study has discovered rare variants in the YKT6 gene as the cause of a new neurological disorder characterized by developmental delays along with severe progressive liver disease and a potential risk for liver cancer.

1 Apr 2024

New molecule is one step closer to becoming a treatment for Phelan-McDermid syndrome

A molecule created at the University of Auckland is one step closer to becoming a treatment for an extremely rare and severely debilitating neurological disorder called Phelan-McDermid syndrome.

2 Feb 2024

Vanderbilt launches $13 million trial to test repurposed drugs for Rett syndrome

Vanderbilt University Medical Center received a $13 million Department of Defense grant to lead a multisite clinical trial that will evaluate repurposed FDA-approved drugs as treatment options for patients with Rett syndrome.

16 Jan 2024

Texas Children's Hospital delivers first-ever gene therapy for Rett syndrome

Texas Children's Hospital, an internationally-recognized, top-ranked children's hospital and pediatric research center affiliated with Baylor College of Medicine, is the first to deliver a novel gene therapy to treat Rett syndrome in pediatric patients.

1 Dec 2023

New MECP2 gene variant identified and characterized in Rett syndrome

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 disability.

30 Oct 2023

Deep brain stimulation improves memory and promotes neuron growth in Rett mice

A recent study from the lab of Dr. Jianrong Tang, associate professor at Baylor College of Medicine and principal investigator at the Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital shows that deep brain stimulation (DBS) of a specific brain region results in a significant and sustained improvement of memory in Rett mice.

13 Oct 2023

Study helps explain how the brain adapts during a critical period of adulthood

Developing brains become shaped by the sights, sounds, and experiences of early life. The brain's circuits grow more stable as we age.

5 Oct 2023

Is depression associated with gut mycobacteria dysbiosis in children?

Researchers evaluated the gut mycobiota in adolescents/children with depression.

4 Apr 2023

Report shows upward trend in autism cases among eight-year-olds in United States

In a recent report published by the Centers for Disease Control and Prevention (CDC) in its Morbidity and Mortality Weekly Report (MMWR), researchers in the United States reported on the prevalence and characteristics of autism spectrum disorders (ASD) among eight-year-old United States (US) children in 2020.

27 Mar 2023

How did the prevalence of autism spectrum disorders change before and during COVID-19?

Researchers reported on autism spectrum disorders prevalence among four-year-old children.

27 Mar 2023

Investigating how gut microbiota affect neuroplasticity and neurodevelopment

In a recent study published in the journal Neuropharmacology, researchers in Pisa, Italy, explored how gut microbiota can influence neuroplasticity.

20 Mar 2023

Neural underpinnings of atypical visual sensory behaviors in some children with autism

There is this picture – you may have seen it. It is black and white and has two silhouettes facing one another. Or maybe you see the black vase with a white background. But now, you likely see both.

2 Mar 2023

Active compound in Lion’s Mane mushroom improves nerve growth and memory

Scientists report that the active compound from an edible mushroom, Hericium erinaceus, can enhance nerve growth and boost memory.

13 Feb 2023

Overnight EEG studies may help inform care for girls with Rett syndrome

In Rett syndrome, a genetic condition affecting girls almost exclusively, mutations in the MECP2 gene cause a regression of language and motor skills starting at 12 to 18 months of age.

8 Aug 2022

Innovative microscopy method reveals how neurons struggle to reach their destination in Rett syndrome models

Using an innovative microscopy method, scientists at The Picower Institute for Learning and Memory at MIT observed how newborn neurons struggle to reach their proper places in advanced human brain tissue models of Rett syndrome, producing new insight into how developmental deficits observed in the brains of patients with the devastating disorder may emerge.

29 Jul 2022

IRSF’s clinical trial committee launched to support pharmaceutical companies developing Rett syndrome treatments

The International Rett Syndrome Foundation (IRSF) announced today that its Clinical Trial Committee (CTC) has launched, having completed its first protocol review, and is available as a resource to drug developers and pharmaceutical companies planning clinical trials to treat and cure Rett syndrome.

31 May 2022

Pioneering study could transform the treatment landscape for babies with infantile spasms

Infantile spasm (IS) is a severe epileptic syndrome of infancy and accounts for 50% of all epilepsy cases that occur in babies during the first year of life.

20 May 2022

Surprising discovery about genetic form of microcephaly has potential to inform treatment strategies

Virginia Tech researchers publishing in the Journal of Medical Genetics made a discovery about a genetic form of microcephaly -- a condition where babies' heads and brains are smaller and grow more slowly than those of unaffected children.

14 Feb 2022

Researchers develop brain organoids that show neural activity similar to living human brains

Researchers at the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA have developed brain organoids -; 3D, brain-like structures grown from human stem cells -; that show organized waves of activity similar to those found in living human brains.

24 Aug 2021

Graduate student receives NIH grant to study specific molecule’s role in healthy neurodevelopment

Raymundo Hernandez was always drawn to psychology - that is, until he took his first neurobiology class as an undergraduate.

20 Jul 2021