Research Article Provides In-Depth Look at Fragile X Associated Disorders (FXD)

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San Marcos, CA  – Monday, August 29, 2016 – The University of St. Augustine for Health Sciences (USAHS) a leading graduate institution that emphasizes rehabilitative and health sciences education through innovative classroom and distance education, is pleased to announce Cornelia C.E. Lieb-Lundell, contributing faculty in advanced pediatrics, has been published in Physical Therapy, the Journal of the American Physical Therapy Association. Her research article, entitled “Three Faces of Fragile X,” provides an in-depth look into genetic disorder Fragile X.

Fragile X Syndrome (FXS) is a passed on through generations. The mother of a child with FXS can carry Fragile-X-associated primary ovarian insufficiency syndrome (FXPOI) and the grandfather of a child with FXS can have Fragile X-associated tremor/ataxia syndrome (FXTAS). Together, these three disorders are called Fragile X associated disorders (FXD).

“The purpose of this article is to make physical therapists knowledgeable about Fragile X, so they can properly diagnose and treat the disorders,” said Cornelia C.E. Lieb-Lundell, PT, DPT, MA. PCS. “FXD can be misunderstood by affected individuals, their families and the healthcare community and is regularly underdiagnosed. It’s important to recognize the relevance of understanding the genetics and advocate for the appropriate screenings of FXD.”

Throughout her article, Cornelia provides an overview of the effects of FXD. These include:

  • Child – A child with FXS will have developmental delays, low muscle tone and will most likely have severe behavior issues. As a result of FXS, around 40 percent of children will have a concurrent diagnosis of autism.

  •  Mother – A mother who has FXPOI may not have any symptoms, yet common issues related with the disorder are fibromyalgia, anxiety disorders, cardiovascular problems, early onset of menopause, osteoporosis and infertility. It is presumed up to 1 out of 50 women, who are seeking fertility treatments, may have the X-gene disorder. An accurate diagnosis of FXPOI is vital for women as they have a 50 percent chance of passing the gene onto a child.

  •  Grandfather – A grandfather with FXTAS, who passes the gene onto his daughter, will not develop any symptoms until later on in life. The most common symptom of FXTAS is ataxia, which is a movement disorder causing a tremor of the hands and ataxia. Other symptoms include imbalance and a decline in cognitive skills that affect judgement. There are countless ways for physical therapists to help a person with FXTAS and a correct diagnosis is important to avoid transmitting the FX gene on to subsequent generations.


Cornelia Lieb-Lundell Fragile XAbout Cornelia C.E. Lieb-Lundell, PT, DPT, MA, PCS:

Cornelia has been working with the San Marcos campus of University of St. Augustine since the spring of 2008 serving as contributing faculty member. She designed and taught child development and continues to teach advanced pediatrics. A 1965 graduate of the University of Southern California’s Physical Therapy program and received her MA in physical therapy from the University of Southern California in 1973. In 2011, she received her DPT from the University of St. Augustine for Health Sciences (USAHS).

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David Hedges

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