Up to two and a half percent of the diagnosed autism cases may be because of one specific gene disruption, a recent study found.
Up to two and a half percent of the diagnosed autism cases may be because of one specific gene disruption, a recent study found.
Writing in the Journal of Medical Genetics, lead researcher Eli Hatchwell, MD, PhD, tested 92 patients with autism-spectrum disorder (ASD), and 560 patients without using whole-genome analysis. In multiple cases, a disruption in the gene contactin 4 was found. This could be a cause of the patients' ASD.
Looking for such a marker in the genes may serve as a test to determine the likelihood of ASD. Since ASD is multiple conditions, not one, any "autism test" would need to contain multiple tests and assays. Checking for a contactin 4 disruption could become one such test.
Cerliponase alfa FDA approved to slow loss of ambulation in children of all ages with CLN2 disease
July 25th 2024From baseline to final assessment, all 7 matched cerliponase alfa-treated children under 3 years of age maintained a motor score of 3, representing a "grossly normal gait, signifying a delay in disease onset," stated BioMarin.