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Spectrum: Autism Research News

Tag: intellectual disability

March 2021
Street view in Ricuarte, Colombia

Colombia lags behind in fragile X syndrome testing, diagnosis

by  /  10 March 2021

People with fragile X syndrome in Colombia are diagnosed at age 27, on average, according to the first study to assess diagnosis in the country. By comparison, the average age of fragile X diagnosis in the United States is younger than 4.

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Broken protein bridge linked to Rett syndrome traits

by  /  1 March 2021

Altering a protein linked to Rett syndrome so that it cannot bind to a methylation tag in neurons results in Rett-like traits in mice.

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February 2021
Heatmap plot showing how each genetic variant plus autism group differed.

Copy number variations linked to autism have diverse but overlapping effects

by  /  1 February 2021

People with mutations in distant chromosomal regions often share a range of autism traits, even if they do not meet the diagnostic threshold for autism.

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January 2021
In cortical-striatal assembloids, striatal neurons (magenta) derived from individuals with Phelan-McDermid syndrome fire more frequently than neurons from controls.

Brain ‘assembloids’ capture circuit flaws in syndrome tied to autism

by  /  21 January 2021

Merging 3D clusters of neurons that mimic different brain regions models the atypical electrical activity seen in an autism-related condition.

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DNMT3A protein attaches a methyl group tag onto the DNA base cytosine.

Autism-related conditions converge on same loss of DNA tags

by  /  20 January 2021

Mutations in the autism-linked gene DNMT3A lead to the behaviors and gene-expression changes seen in different neurodevelopmental conditions.

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3D glasses viewing a group fo people.

The promise of scientific partnerships with people on the spectrum

by  /  14 January 2021

Five collaborations involving autistic scientists and experts are advancing autism research, from lending support for theories of the condition to shoring up trials of new treatments.

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Two top autism genes may have a mechanism in common

by  /  13 January 2021

Mutations in two genes linked to autism and intellectual disability boost the immune response and cause synapse dysfunction.

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neurons in mice

Sensory perception, cell signals disrupted in people and mice missing autism gene

by  /  13 January 2021

People and mice with only one working copy of the autism gene SYNGAP1 may have trouble processing sights and sounds.

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December 2020
Micrograph of nerve cells being targeted by CRISPR enzyme to activate the silenced gene in Angelman syndrome

Hot topics in autism research, 2020

by  /  23 December 2020

The Spectrum team highlights five topics that distinguished autism research in 2020: diversity in data, gene therapies, subtyping, social circuitry and the ‘autism gene’ debate.

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Stylized DNA molecule

Mutations in the same exon linked to similar autism traits

by  /  17 December 2020

People with autism who carry DNA variants in the same protein-coding region of a gene have more similar cognitive abilities and behaviors than those who carry mutations in different regions of the same gene.

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