DMD Learning Deficits May Be Linked to Cerebellum Impairment, Study Suggests

A dysfunctional cerebellum leads to implicit learning deficits in children with Duchenne muscular dystrophy (DMD), Italian researchers have suggested.

Their study, “Implicit learning deficit in children with Duchenne muscular dystrophy: Evidence for a cerebellar cognitive impairment?” appeared in the journal PLoS ONE.

DMD is an inherited disease caused by genetic mutations on the DMD gene, which encodes the dystrophin protein. These mutations are the cause of all clinical features of this disease, as well as for cognitive deficits reported since Duchenne was first described in 1868.

Some studies have suggested that intellectual disorders in DMD patients may be linked to dysfunction of the cerebellum. Although this region of the brain is mainly associated with movement control and balance, it might also control cognitive functions such as language, abstract reasoning, emotions and logic.

To better understand the cerebellum’s relationship to DMD, a group of Italian researchers evaluated 32 boys diagnosed with the disease and 37 age-matched volunteers using the Serial Reaction Time task. This test can analyze implicit sequence learning capacity while showing the cerebellum’s role in this function.

None of the children had global intellectual disability, though DMD boys were found to have poorer implicit learning of a temporal sequence of events than the control group. This finding may help explain why DMD individuals may have difficulties with speech, general learning and concentration.

A subgroup analysis failed to show any correlation between the position of the boys’ mutations and the implicit learning they presented. This result confirms that all DMD children had an implicit learning deficit and emphasizes a “possible role of dystrophin in the brain,” the researchers said.

These findings provide “further evidence of the involvement of specific aspects of cognitive function in DMD,” said researchers, adding that “this deficit may be interpreted as the expression of a dysfunction of the cerebellum.”

Source : MD News

WHY

Public Health to us at MDCRC is about the community at large. The health of the community at different levels and when seen through different perspectives becomes a subject which is complete, holistic and is a melting pot for a plethora of technical disciplines. At MDCRC we do align with a goal of working for community health by working on modular projects related to Women and Child health, disease prevention, Health informatics, Community building and its associated research, Water resources, Arts, Indic Sciences, Cultural issues which are relevant to the contemporary generation. The style which we adopt is to focus on totally neglected aspects and form a working model towards a better situation. The need for this approach is to bring back the glory of humanity in general and which percolates to a healthier India.

The disorders in current focus are Orphan disorders, meaning disorders whose numbers are said to be less (in the Western diaspora) which neither doesn’t majorly impact the community’s currently used health metric nor does it provide a base for extensive drug research and its production. This view is only true until the numbers are low and also the way we look at Public health in general. There had been no concerted efforts in the domain of Orphan disorders in India. Mission of ours then, was to bring the science, the services pertaining to a particular problem statement and which thereby gives rise to an evolution of a model. This forges a way of approaching Health from a community standpoint thereby offering an impactful experience to all stake-holders. This is where the core culture MDCRC comes in where we believe that in Public Health domain in particular, the science and the associated services need to reach mankind at large without a number bias or number crunching.

With a background in Biochemistry and Genetics, Dr. Lakshmi, in 2006 had started working on genetic disorders with specific emphasis on community building.

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