Gene Linked to Common Intellectual Disability

University of Adelaide researchers have taken a step forward in unravelling the causes of a commonly inherited intellectual disability, finding that a genetic mutation leads to a reduction in certain proteins in the brain.
    

ARX is among the top four types of intellectual disability linked to the X-chromosome in males. So far, 115 families, including many large Australian families, have been discovered to carry an ARX  mutation that gives rise to intellectual disability.
"There is considerable variation in the disability across families, and within families with a single mutation. Symptoms among males always include intellectual disability, as well as a range of movement disorders of the hand, and in some cases severe seizures," says Associate Professor Cheryl Shoubridge, Head of Molecular Neurogenetics with the University of Adelaide's Robinson Institute.

"The discovery of this genetic link is an important step forward but there is still much work to be done. We're now looking further at the mechanism of the reduction in ARX protein and what that means for the brain at a functional level."

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http://hmg.oxfordjournals.org/content/early/2013/10/22/hmg.ddt503

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A Life Defined Not By Disability, But Love

When Bonnie Brown was pregnant with her daughter, Myra, she says she felt a mix of joy and anxiety.  "I hadn't ever been pregnant before," she says. "I never had really an idea of how to take care of a baby."  Brown, who is intellectually disabled, works at Wendy's while raising     Myra as a single mom. Despite her disability, she says she never felt like her daughter was too much to handle. "I think because I'm different it might seem hard for me, but I was going to give it all I got no matter what," she tells Myra, now 15, during a visit to StoryCorps.

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YAI International Conference

YAI Network's International Conference on Intellectual and Developmental Disabilities attracts an annual attendance of more than 3,000 people and serves as a major forum for the exchange of ideas and the introduction of new models and strategies that have a positive impact in the field. Expect more than 250 presenters and over 170 sessions!
To read more about the YAI Conference, please click the above title.
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Older Fathers Linked To Intellectual Disability

Disability Scoop, October 11, 2011 - "Moms aren’t the only ones who pose a risk when they wait to have children. A new study suggests that older dads are responsible for some children developing intellectual disabilities.
In a study of 118 children with intellectual disability caused by a missing, repeated or an otherwise abnormal DNA sequence, Dutch researchers found that in most cases the problem originated with the father’s sperm.
What’s more, the study found that men who had the problematic sperm were often in their 40s and 50s.
The findings, published this month in the Journal of Medical Genetics, are the first to link intellectual disability and older fathers, though paternal age has previously been tied to other conditions like schizophrenia.
Other forms of intellectual disability such as Down syndrome, which occurs when a person has an extra chromosome, are associated with older mothers, reports The (Toronto) Globe and Mail."

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Most Common Form of Inherited Intellectual Disability May Be Treatable, Review Suggests

ScienceDaily (May 17, 2011) — "Advancements over the last 10 years in understanding intellectual disability (ID) have led to the once-unimaginable possibility that ID may be treatable, a review of more than 100 studies on the topic has concluded.
It appears in ACS Chemical Neuroscience.
Aileen Healy and colleagues explain that people long have viewed intellectual disability as permanent and untreatable, with medical care focusing on relieving some of the symptoms rather than correcting the underlying causes. That includes Fragile X syndrome (FXS), the most common inherited form of intellectual disability. FXS occurs in an array of forms, ranging from mild learning disabilities to more severe intellectual and developmental disabilities. It is the most common known cause of autism or autistic-like behaviors.
Scientists are now beginning to get a handle on the changes that happen to cells and molecules in the body because of a mutation in the Fragile X Mental Retardation 1 gene. That gene contains instructions for making a key protein vital for nerve function in the brain, and does not work properly in FXS. With a better understanding of the biological effects of the mutation, the scientists say that treatments for FXS and similar disorders now seem possible. In addition, several drugs tested in humans seem promising."
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GPS-ENABLED PORTABLE DEVICE HOLDS PROMISE FOR INDEPENDENT BUS TRAVEL FOR PEOPLE WITH INTELLECTUAL DISABILITY, NEW STUDY REVEALS

AAIDD (Feb2, 2011)- In a study of adults with intellectual disability attempting to follow a new bus route and get off the bus at a previously unknown location, researchers observed that when using a GPS-based system providing visual and auditory prompts, participants were significantly more successful at completing a bus route than were people using a map and verbal directions. For example, 73% of participants with the PDS-based software successfully rang the bell and exited the bus at the right stop compared with only 8% of the control group.

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