Did anyone hear about this test? It started back in 1991 to determine whether a person has Fragile X syndrome or not but because Fragile X syndrome is the most commonly known single-gene cause of autism, responsible for between 2 and 6 percent of autism cases, doctors and parents use this test to determine whether their kids autism is the cause of "genes" (this particular gene) or something more.
But, an autistic child can be "negative" on this test meaning, there are other factors (environmental and genetic) that caused the autism. We know that autism has a very strong genetic component.
Study on fragile X syndrome uses fruitfly's point of view to identify new treatments
The hormone insulin - usually associated with diabetes -- is involved in the daily activity patterns and cognitive deficits in the fruitfly model of FXS. Results reveal a metabolic pathway that can be targeted by new and already approved drugs to treat fragile X patients. This syndrome is the most common genetically inherited cause of intellectual disability in humans. Ref. Source 7y.
If this goes somewhere for humans imagine the miracles that will take place in the lives of Autism Families:
Animal models can't 'tune out' stimuli, mimicking sensory hypersensitivity in humans. Mice genetically engineered to mimic a type of autism in humans, fragile X syndrome, are unable to adapt to, or tune out, repeated stimulation to their whiskers -- unlike ordinary mice. The findings have implications for a common symptom -- sensory hypersensitivity -- in humans with autism. Source 3o.
Potential new treatment for Fragile X targets one gene to affect many. Scientists found that inhibiting a regulatory protein alters the intricate signaling chemistry that is responsible for many of the disease's symptoms. The findings provide a path to possible therapeutics for disorders associated with Fragile X. Source 9r.
Unexpected mental illnesses found in a spectrum of a rare genetic disorder. Researchers found an unexpected spectrum of mental illnesses in patients with a rare gene mutation. These patients had a ''double hit'' condition that combined features and symptoms of fragile X syndrome and premutation disorder, in addition to a range of psychiatric symptoms. The findings revealed the need for clinicians to consider the complexities of the co-existing conditions of patients with both psychological and fragile X associated disorders. Source 4r.