Germline mutations of the tumor suppressor gene PTEN are associated with a group of genetic disorders that increase the risk of certain cancers, cognitive and behavioral deficits, benign growths and tumors, and macrocephaly. A recent study suggests that copy number variations may act as genomic modifiers that influence the risk of autism spectrum disorder. Charis Eng, MD, PhD, discusses her latest discovery.
As more children with autism spectrum disorder become adults, understanding this condition across the life span grows paramount. We share a comprehensive review of diagnosis, prognosis and treatment strategies for autism in adulthood.
New research indicates that certain metabolites, such as fumarate, may serve as predictive biomarkers that could distinguish patients with PTEN mutations who will develop neurodevelopmental disorders from those who will develop cancer.
Dr. Cynthia Johnson, PhD, and her team at Cleveland Clinic’s Center for Autism are leading federally funded studies looking at early interventions for feeding and sleep issues.
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A new study examining the gene phosphate and tensin homolog (PTEN) calls for both early detection of cancer and awareness of the importance of precision therapy.
A novel risk index based on eye gaze tracking has been found highly accurate in distinguishing autism from non-autism disorders. It just might boost acceptance of the diagnosis by parents wary of clinical impressions alone.
Can a tasteless medicine sprinkled on food help reduce the symptoms of autism in children ages 3 to 8? Cleveland Clinic Children’s is one of 29 sites nationwide trying to find out.
Autism management is in the midst of a sort of creative chaos these days. Experts share a few of the resulting developments: eye-gaze tracking for better diagnosis, enzyme replacement therapy and tablet-based data collection.
Rett syndrome is a rare but debilitating genetic neurodevelopmental with no cure. Cleveland Clinic and Case Western Reserve University researchers are exploring ketamine as a possible treatment.
Telling parents their child should be evaluated for autism need not be fraught with anxiety, especially since early and appropriate support can make a world of difference.