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Phelan-McDermid Syndrome

·June 25, 2024·4 min read

CBD and Metformin Show Promise for Autism Disorders

Cannabidiol (CBD) and metformin can alleviate behavioral difficulties in mouse models of Fragile X and Phelan-McDermid syndromes. Both conditions, linked to autism spectrum disorder, saw improvements in speech, social interactions, and repetitive behaviors. This promising study paves the way for potential new treatments with minimal side effects. Ongoing clinical trials aim to confirm these findings in humans.

Autism Featured Genetics Neuroscience

·December 27, 2022·4 min read

Investigators Develop New Therapy for Autism Subtype

Researchers have developed a new treatment that could potentially be used to treat patients with the Phelan-McDermid syndrome autism subtype.

Autism Featured Genetics Neuroscience Open Neuroscience Articles

·April 27, 2020·5 min read

Lithium may treat behavior linked to autism gene

Findings support the idea that lithium, a drug more commonly associated with the treatment of bipolar disorder, may help treat those with SHANK3 related autism.

Featured Genetics Neuroscience

·June 12, 2019·7 min read

Using gene editing, neuroscientists develop a new model for autism

Using CRISPR gene editing, researchers introduce the SHANK3 gene variant into macaque monkeys. SHANK3 has previously been linked to autism in humans. The monkeys with the SHANK3 mutations exhibited behavioral traits and brain activity patterns similar to those seen in humans on the autism spectrum, Researchers hope the new model will facilitate new avenues of research for ASD.

This showa a child looking at a DNA strand

Autism Featured Genetics Neuroscience Open Neuroscience Articles

·April 29, 2019·5 min read

Study links gene to sleep problems in autism

Deficiencies in the SHANK3 gene have been linked to sleep disruptions in both mouse models and people with ASD. Researchers found patients with Phelan-McDermid syndrome, a genetic disorder associated with autism, report trouble falling, and staying asleep. In mouse models, animals lacking the SHANK3 gene had a reduction in deep sleep quality and spent more time awake when other mice were sleeping.

The image shows a child holding a sign with the word autism written on it.

Autism Featured Open Neuroscience Articles

·June 11, 2013·3 min read

Researchers Provide the First Comprehensive and Prospective Characterization of a Genetic Subtype of Autism

Researchers provide new evidence for the severity of motor, intellectual and speech impairments in Phelan-McDermid Syndrome, a sub-type of autism characterized by a mutation of the SHANK3 gene.