By dissecting the genetic basis of these neurodevelopmental disorders, we are gaining fundamental insight into basic physiological mechanisms important for human brain development and function.
An international team of researchers have identified a previously unknown neurodegenerative disorder and discovered it is caused by a single mutation in one individual born during the height of the Ottoman Empire in Turkey about 16 generations ago.The genetic cause of the rare disorder was discovered during a massive analysis of the individual genomes of thousands of Turkish children suffering from neurological disorders.
New research from the University of Adelaide has confirmed that a gene linked to intellectual disability is critical to the earliest stages of the development of human brains.
By looking at patients with severe learning and memory problems, we discovered a gene – called USP9X – that is involved in creating this base network of nerve cells. USP9X controls both the initial generation of the nerve cells from stem cells, and also their ability to connect with one another and form the proper networks.
Up to 80 percent of children with developmental disorders have difficulty ingesting, chewing, or swallowing food, leading to food aspiration, choking, or life-threatening respiratory infections.
Using an animal model of DiGeorge/22q11 Deletion Syndrome, a genetic disorder that causes autism and intellectual disability, the GW group found clear signs of early feeding and swallowing disruption, and underlying changes in brain development. The research may even lead to a cure for these difficulties — known as pediatric dysphagia.
Dravet syndrome is a severe genetic epilepsy with onset during infancy, with initial seizures often triggered by fever.
A European consortium of epilepsy researchers has reported the discovery of a new gene involved in severe childhood epilepsy. Using a novel combination of technologies, including trio exome sequencing of patient/parental DNA and genetic studies in the tiny larvae of zebrafish, the EuroEPINOMICS RES consortium found that mutations in the gene CHD2 are responsible for a subset of epilepsy patients with symptoms similar to Dravet syndrome – a severe form of childhood epilepsy that is in many patients resistant to currently available anti-epileptic drugs.
It does not appear that families use complementary and alternative treatments due to the lack of availability of conventional services, as has been suggested by other research. Rather, they use the treatments in addition to conventional approaches.
In a study of the range of treatments being employed for young children with autism and other developmental delays, UC Davis MIND Institute researchers have found that families often use complementary and alternative medicine (CAM) treatments and that the most frequent users of both conventional and complementary approaches are those with higher levels of parental education and income.