News / Spectrum

CDKL5 gene; cerebrospinal fluid; drug combo for fragile X syndrome

Here is a roundup of autism-related news and research spotted around the web for the week of 16 September.

By Jill Adams
17 September 2024 | 2 min read
  • Mice missing one or both copies of the gene CDKL5, which causes CDKL5 deficiency disorder in people, display autism-like traits as early as 2 weeks of age. Autism Research
  • Sensorimotor skills in infants predict self-regulation skills at 12 to 15 months old, and self-regulation skills in infants with autistic siblings predict autism traits at age 3. Developmental Science
  • Autism-linked genes can converge on downstream targets, and convergent effects are more prominent in mature glutamatergic neurons than in neural progenitor cells or GABA-ergic neurons, according to a preprint. bioRxiv
  • Microglia grown from an autistic person’s stem cells and missing the autism-linked gene NRXN1 actively release the proinflammatory cytokine IL-6 and fail to form functional neuronal networks. Brain, Behavior, and Immunity
Research image of microglia.
Uncurbed growth: Microglia missing the NRXN1 gene (right panel) proliferate more (pink stain) than control cells (left panel).
  • Some alterations in resting-state electroencephalograms are shared between people with autism and those with fragile X syndrome, whereas others distinguish the conditions. Journal of Neurodevelopmental Disorders
  • “The complexity of the 16p12.1 deletion and other genomic disorders calls for personalized medicine approaches that fully account for individual-level phenotypic presentation, family history, and genome-wide variant profile towards counseling, management, and potential treatment.” medRxiv
  • The composition of cerebrospinal fluid in embryonic mice is altered in the maternal immune activation mouse model of autism. Journal of Biological Chemistry
  • Combination therapy with lovastatin and minocycline decrease neuronal excitability in people with fragile X syndrome, according to a clinical trial. Spectrum covered earlier results with this drug combination in 2018. Autism Research

Sign up for the weekly Spectrum newsletter to stay current with the latest advancements in autism research.

Recommended reading

Illustration of children looking at a gigantic set of building blocks, some of which display genetic sequences on their surfaces.
Spectrum

Autism is more heritable in boys than in girls

By Sneha Chaturvedi, John Constantino, Natasha Marrus, Sven Sandin, Benjamin Yip
19 September 2024 | 6 min read
Research image of toxoplasma gondii showing cysts it creates as well as the MECP2 protein that it can deliver to neurons.
Spectrum

Parasite-based tool delivers MECP2 and other proteins to neurons

By Giorgia Guglielmi
12 September 2024 | 4 min read
World map displaying an analysis of years of life lost to suicide among autistic people in 2021.
Spectrum

PPP2R5D gene; social-communication intervention in infants; autism and suicide

By Jill Adams
10 September 2024 | 2 min read

Explore more from The Transmitter

Illustration of a brain.
This paper changed my life

This paper changed my life – ‘Response of hippocampal synapses to natural stimulation patterns,’ by Dobrunz and Stevens

By Robert Froemke
17 September 2024 | 4 min read
Research image of brain scans showing the structural integrity of white-matter tracts.
Brain imaging

Repeat scans reveal brain changes that precede childbirth

By Shaena Montanari
16 September 2024 | 8 min read
Illustration of cranes attempting to assemble a structure out of very small black squares.
Dopamine

Reconstructing dopamine’s link to reward

By Angie Voyles Askham
13 September 2024 | 18 min read