Most common form of inherited intellectual disability may be treatable

Advancements over the last 10 years in understanding intellectual disability (ID, formerly mental retardation), 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 as permanent and untreatable, with medical care focusing on relieving some of the symptoms rather than correcting the underlying causes. That includes (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 . 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 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. "In conclusion, the recent clinical introduction of multiple compounds representing a variety of mechanistic approaches to the disorder represents an exciting opportunity to realize the mission of implementing effective treatments of ID," say the researchers.

More information: Fragile X Syndrome: An Update on Developing Treatment Modalities ACS Chemical Neuroscience, Article ASAP, DOI: 10.1021/cn200019z

Abstract
Intellectual disability (ID; mental retardation) is considered an immutable condition. Current medical practices are aimed at relieving symptoms and not at altering the underlying cognitive deficits. Scientific advancements from the past decade have led to the exciting possibility that ID may now be treatable. Moreover, pharmaceutical therapies targeting the most common form of inherited ID, Fragile X syndrome (FXS), may become the new benchmark for central nervous system (CNS) drug discovery: seeking cures for neurodevelopmental disorders.

add to favorites email to friend print save as pdf

Related Stories

New gene discovered for new form of intellectual disability

Apr 24, 2008

The Centre for Addiction and Mental Health (CAMH) has discovered a new form of intellectual disability involving mental retardation (MR) along with the eye defect retinitis pigmentosa (RP). CAMH also discovered the previously ...

Recommended for you

What happens in our brain when we unlock a door?

10 hours ago

People who are unable to button up their jacket or who find it difficult to insert a key in lock suffer from a condition known as apraxia. This means that their motor skills have been impaired – as a result ...

Sport can help multiple sclerosis patients

14 hours ago

A study developed at the Miguel Hernández University of Elche (Spain) has preliminarily concluded that people with multiple sclerosis may reduce perceived fatigue and increase mobility through a series of ...

Obama's BRAIN initiative gets more than $300 million

18 hours ago

President Barack Obama's initiative to study the brain and improve treatment of conditions like Alzheimer's and autism was given a boost Tuesday with the announcement of more than $300 million in funds.

User comments