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Explaining A Child’s Mental Deficiency

Among children, mental deficiency is the most frequently occurring, yet least understood of all handicaps.

Even a mild form can lead to social isolation, bullying and require assistance with simple tasks.

The most common variety, non-syndromic mental deficiency (NSMD), is defined as affecting an otherwise normal looking child.

With few physical clues in affected children to point researchers toward candidates to study, progress in identifying genetic causes of NSMD has been very slow. Yet that is beginning to change.

Jacques L. Michaud, a geneticist at the Sainte-Justine University Hospital Research Center and the Centre of Excellence in Neuromics of the Universitie de Montreal, has led a multidisciplinary team which has identified mutations in a novel gene in children with NSMD.

Their study is published in the New England Journal of Medicine and includes collaborators from McGill University in Canada, the National Institute of Mental Health and the Nathan S Kline Institute in the U.S. and the Universitie Paris Descartes in France.

“NSMD is a disorder that has many causes,” says Dr. Michaud. “By linking this gene to one kind of NSMD, we better understand the causes and we can work towards a way of identifying and treating this incapacitating condition”.

The identified mutations affect the function of SYNGAP1, a gene that codes for a protein involved in the development and function of the connections between brain cells, also called synapses. The disruption of this gene has been shown to impair memory and learning in mice.

A new approach

Dr. Michaud’s research team hypothesized that new mutations that arise in children — while not present in their parents — may represent a common cause of mental deficiency.

“Several observations indicate that new mutations are a frequent cause of neurodevelopmental disorders, but their identification has been difficult because it requires the study of a large fraction of genes, which represents a challenging task,” says Dr. Fadi F. Hamdan, first author of the study.

In order to identify these new mutations, the team took advantage of the platform developed by the Synapse to Diseases consortium, based in Montreal, to study 500 synaptic genes in a group of children with unexplained mental deficiency. The team found that three percent of their subjects had new deleterious mutations in the SYNGAP1 gene.

“This discovery illustrates the power of novel technologies that allow researchers to study hundreds of genes in large groups of individuals, and provides validation for the use of such an approach for the exploration of neurodevelopmental disorders,” says Dr. Guy A. Rouleau, Director of Sainte-Justine Research Center and Head of the Synapse to Diseases consortium.

Impact of the discovery

Children with mutations in SYNGAP1 show strikingly similar forms of NSMD, with delays in their language and mental development and, in some cases, a mild form of epilepsy. Now that these SYNGAP1 mutations have been linked to NSMD, diagnostic tests can be offered to children with NSMD, and adapted strategies of learning can be developed.

Moreover, because of the wealth of knowledge about the function of SYNGAP1, it may also be possible to design targeted pharmacological therapies that would aim at improving cognition and associated complications such as epilepsy.

Source: University of Montreal

Explaining A Child’s Mental Deficiency

Rick Nauert PhD

Rick Nauert, PhDDr. Rick Nauert has over 25 years experience in clinical, administrative and academic healthcare. He is currently an associate professor for Rocky Mountain University of Health Professionals doctoral program in health promotion and wellness. Dr. Nauert began his career as a clinical physical therapist and served as a regional manager for a publicly traded multidisciplinary rehabilitation agency for 12 years. He has masters degrees in health-fitness management and healthcare administration and a doctoral degree from The University of Texas at Austin focused on health care informatics, health administration, health education and health policy. His research efforts included the area of telehealth with a specialty in disease management.

APA Reference
Nauert PhD, R. (2016). Explaining A Child’s Mental Deficiency. Psych Central. Retrieved on August 21, 2018, from https://psychcentral.com/news/2009/02/05/explaining-a-childs-mental-deficiency/3939.html

 

Scientifically Reviewed
Last updated: 30 Jun 2016
Last reviewed: By John M. Grohol, Psy.D. on 30 Jun 2016
Published on PsychCentral.com. All rights reserved.