Tuesday, July 9, 2013

Is It Autism, or is it Fragile X Syndrome?


How many children have been diagnosed as Autistic without having the simple blood test to determine whether they have Fragile X Syndrome?

Is It Autism, or is it Fragile X Syndrome?If that is your child, run don't walk to your Doctor's office and request the blood test. Yes, there is a simple test to identify the difference. The correlation is remarkable and overlaps in many cases. For between 2% and 6% of all children diagnosed with autism the cause is the Fragile X gene mutation.1 Even more remarkable is the fact that between 15% and 30% of boys with Fragile X meet the diagnostic criteria for autism.2 Why is there so little public discourse concerning Fragile X when there is a diagnosis of autism? If you don't know much about Fragile X syndrome you are not alone. It is a relatively new area of study.
There is an entire spectrum of abilities for Fragile X Syndrome children and adults ranging from the learning-disabled to the very low functioning. Fragile X Syndrome is the second most common cause of retardation, but the range of functioning is broad with many strengths and weaknesses. Fragile X Syndrome is an X-linked hereditary disease affecting cognitive, physical, and sensory development. It involves genetic repeats found near the tip of the X chromosome.
There are many overlapping characteristics between Autistic and Fragile X Syndrome children. These include hand flapping, poor eye contact, repetitive, self-stimulating motor behaviors, as well as difficulty with social interactions, and poor play skills. The profile of Fragile X children with autistic features is visually indistinguishable from the children with autism and those without Fragile X Syndrome.
For young children these behaviors are easily identified, and cry out for appropriate educational settings and therapy for both autistic and Fragile X syndrome children. Multiple sources of information are critical, and that would include both medical and observational rating scales. It is important for children with Fragile X Syndrome to seek genetic counseling and access to treatments that have proven to be effective for these children. Some of the success stories involve the use of schedules, calming techniques, emphasis on functional language, visual cueing, and focusing on concrete experience based learning.

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