Brain waves: Excess GABA-A receptor function contributes to the phenotypes seen in children with dup15q syndrome, including autism traits, epilepsy and intellectual disability, according to a new paper. The duplicated stretch of chromosome 15 in people with the syndrome includes several genes, including UBE3A and three GABA-A receptor submit genes. Investigators recorded EEG activity—specifically, they […]
A genetic method that changes how cells “read” the MECP2 gene could help raise levels of the protein disrupted in people with Rett syndrome, according to a new study. Rett syndrome is caused by genetic changes in MECP2, an X-chromosome gene that regulates thousands of genes important for brain function. Some variants completely block the […]
Tickle test: Sensory learning is altered in a mouse model of fragile X syndrome, according to a new preprint. The investigators recorded neuronal activity in response to repeated whisker stimulation in the mice and observed hampered long-term potentiation—synaptic changes that underlie learning—in pyramidal neurons. The researchers speculate that these findings may reflect “a significant deterioration […]
A flurry of Phelan-McDermid syndrome papers: Four studies published this week advance knowledge about Phelan-McDermid syndrome, also known as 22q13 deletion syndrome. The condition is characterized by intellectual disability, developmental delays, behavioral abnormalities and often autism, with considerable variability. A natural-history analysis of data from two cohorts of people with Phelan-McDermid syndrome described delays in […]
Butterfly effect: Disabling the ATRX gene in forebrain excitatory neurons during embryogenesis alters brain size, structure and connectivity in adult mice, according to a new preprint. Previous work has shown that this intervention induces autism-like behaviors and thus appears to model ATR-X syndrome in people. ATRX-deficient mice of both sexes were smaller than controls, but […]
Connecting threads: Transcriptional changes seen in cortical organoids derived from people with dup15q syndrome are consistent with those detected in postmortem brain samples, according to a new study. Affected processes included increased glycolysis, disrupted marker expression and aberrant morphology. Previous work by this research group found parallels between dup15q syndrome and idiopathic autism. The investigators […]
Visual cues: Sensory neurons in the retina display altered structure and function in a mouse model of fragile X syndrome, according to a new study. Retinal ganglion cells—homologous to primate ganglion cells—received more inhibitory input and were less responsive to light in mice lacking the gene FMR1 compared with the same cells in wildtype mice. […]
Low genetic diversity across a person’s genome predisposes those with PTEN variants to neurodevelopmental conditions, a new study suggests. The findings may explain why people carrying the same PTEN variant often experience different clinical outcomes. Among people with neurodevelopmental conditions and PTEN variants, increased homozygosity—which occurs when a person carries the same variant in both […]
Lost connections: Neurons that have excess MECP2 expression typically develop excess synapses (green and red) — but blocking TCF20 protein returns levels to normal. Researchers have identified a new protein complex that shapes the function of the MECP2 protein, encoded by the gene mutated in most cases of Rett syndrome. The complex reveals a novel […]
People with mutations in the PAX5 gene have a distinct neurodevelopmental syndrome characterized by a range of traits, including developmental delay, intellectual disability, seizures and autism, according to a new study of 16 children and young adults. Until now, genetic testing did not give people with PAX5 mutations clear answers about their development, says lead […]
When I was diagnosed with ADHD and anxiety at age 8, I didn’t fully understand what these conditions meant. I just knew that I had a mind that couldn’t shut off and an internal voice that tended to worry. That voice told me that everyone in my life expected perfection from me and, at the […]
Jana von Hehn Senior director of research and clinical strategyRett Syndrome Research Trust Rett syndrome affects about 1 in 10,000 female babies, for whom there are no approved medications. (The condition rarely affects boys.) Clinical trials of drugs to treat the condition’s core features — which include motor, eating and breathing problems, and autism — […]
