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Spectrum: Autism Research News

Tag: intellectual disability

May 2014

Clinical research: Mothers’ genes give clues to fragile X

by  /  16 May 2014

The symptom severity of three girls with fragile X syndrome tracks with how much the levels of the fragile X protein in their blood differs from that of their unaffected mothers. If the results, published 29 January in Molecular Syndromology, are confirmed in a larger study, they may help doctors predict how the disorder will manifest in girls.


Fragile X symptoms don’t add up to autism, studies suggest

by  /  8 May 2014

Roughly one-third of children with fragile X syndrome also have an autism diagnosis. Studies published in the past few months, however, suggest that the set of autism-like symptoms seen in people with fragile X syndrome may only resemble autism superficially.


Drug company halts tests of fragile X drug

by  /  6 May 2014

Following disappointing results from two clinical trials, the Swiss pharmaceutical company Novartis announced on 24 April that it will stop development of a drug candidate for fragile X syndrome.

April 2014

Early signs distinguish autism from other disorders

by  /  24 April 2014

By age 2, children with autism show difficulty with movement, communication, emotional control and problem-solving, distinct from the symptoms of children with other disorders, reports a study published in February.


Statistical model rates billions of human mutations

by  /  16 April 2014

A new statistical system ranks the potential harm done by each of the nearly 9 billion possible variants in the human genome, researchers reported in March in Nature Genetics.


Genetics: New autism mutations affect DNA packaging

by  /  8 April 2014

Mutations in a gene associated with DNA packaging may lead to autism and intellectual disability, suggests a study published 16 February in Nature Genetics.


Clinical research: Autism-related syndrome changes with age

by  /  4 April 2014

Many characteristics of Phelan-McDermid syndrome — an autism-linked disorder arising from abnormalities at the tip of chromosome 22q13 — change as individuals age.

March 2014

Are girls really protected from autism?

by  /  31 March 2014

Do genetic differences or diagnostic biases account for the gender imbalance in autism? Catherine Lord, David Skuse and Angelica Ronald weigh in.


Autism characteristics differ by gender, studies find

by  /  27 March 2014

Two studies published in the past month lend support to the notion that autism looks different in girls than it does in boys, making it harder to recognize and diagnose in girls. The studies reflect growing suspicion in the research community that the underlying biology and the experiences of girls with autism may both be distinct.


Genetics: Fragile X mutation leads to syndrome

by  /  11 March 2014

A teenager with fragile X syndrome carries a rare mutation that changes a single amino acid in the FMRP protein, researchers reported 22 January in the European Journal of Human Genetics.