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

Surprising new role for calcium in sensing pain

2 hours ago

When you accidentally touch a hot oven, you rapidly pull your hand away. Although scientists know the basic neural circuits involved in sensing and responding to such painful stimuli, they are still sorting ...

Neurons in human skin perform advanced calculations

22 hours ago

Neurons in human skin perform advanced calculations, previously believed that only the brain could perform. This is according to a study from Umeå University in Sweden published in the journal Nature Ne ...

Memory in silent neurons

Aug 31, 2014

When we learn, we associate a sensory experience either with other stimuli or with a certain type of behavior. The neurons in the cerebral cortex that transmit the information modify the synaptic connections ...

User comments