In this December installment of Shared Solutions, we continue our spotlight on some lesser-known disabilities that present challenges for job seekers. Today we offer information on two serious genetic conditions, Williams Syndrome and Fragile X Syndrome. Each has certain characteristics you will want to know about when finding employment for participants with these syndromes.
Williams Syndrome
Williams Syndrome (WS) is a genetic condition characterized by medical problems, including cardiovascular disease, developmental delays, and learning challenges. These challenges often occur side by side with striking verbal abilities, highly social personalities, and an affinity for music. A spontaneous deletion of 26-28 genes on chromosome seven at the time of conception is the agreed cause of WS.
The Numbers
WS affects one in 10,000 people worldwide, with an estimated 20,000 to 30,000 people in the U.S. It occurs equally in males and females.
The Diagnosis
Two lab tests commonly aid the diagnosis: the FISH test and the Microarray test, and both tests require a small blood sample to assess the DNA. While physical manifestations vary from person to person, those diagnosed with WS often face health concerns or other developmental issues, including:
- cardiovascular concerns,
- kidney anomalies,
- gastrointestinal problems,
- neurodevelopmental and behavioral concerns,
- anesthesia use concerns,
- sensitive hearing,
- developmental delays,
- poor motor skills, and
- mild to severe learning disabilities.
Observers often describe individuals with WS as hyper-sociable, talkative, and friendly, with very empathetic, polite, and happy personalities. People with WS may also display behavioral issues and anxiety beginning at a very young age, while some may have specific phobias and fears.
Fragile X Syndrome
Fragile X Syndrome (FXS) is a disorder caused by changes in the FMR1 gene. The FMR1 gene usually makes a protein needed for brain development called FMRP, but people with FXS do not make this protein. A 2014 meta-analysis conducted by Hunter et al. indicated that some people with other FXS-associated disorders have changes in their FMR1 gene, but usually can make some of the protein.
The Numbers
The exact number of people who have FXS is unknown. It affects both males and females, with the diagnosis assigned to about one in 7,000 males and about one in 11,000 females. Females often have milder symptoms than males.
The Diagnosis
Health care practitioners conduct FXS diagnoses via a laboratory genetic test, and use blood samples to review the DNA. There are three FXS associated disorders: Fragile X syndrome, Fragile X-associated primary ovarian insufficiency, and Fragile X-associated tremor/ataxia syndrome.
According to the Centers for Disease Control, individuals with FXS may show:
- developmental delays (not sitting, walking, or talking at the same time as peers);
- learning disabilities (trouble learning new skills);
- social and behavioral problems (such as not making eye contact, anxiety, trouble paying attention, hand flapping, acting and speaking without thinking); and
- nervous system tremors and problems with walking, balance (also called ataxia), memory, and mood disorders among older adults.
How to Support Someone with WS or FXS
As a person transitions to employment, it is important to understand specific strategies which may help in support that individual. Employment specialists should provide supports pre-employment and post-employment, both at and away from the worksite.
Consider using these strategies as you interface with job seekers diagnosed with WS or FXS:
- Help ensure safety since individuals may not know a stranger. (WS)
- Provide consistent routines and consistent consequences.
- Confirm a job seeker understands instructions; they may be eager to please, so ensure they comprehend.
- Provide social skills support and boundaries.
- Provide positive feedback when appropriate.
- Have patience and be consistent.
- Ensure physical safety with tremors or other physical concerns. (FXS)
- Help manage phobias by showing and modeling. (WS)
- Communicate medical needs or appointments with employer for accommodations.
Learn More
Further information about Williams Syndrome can be found at the Williams Syndrome Association website.
You can read more about Fragile X syndrome treatments, educational strategies, therapies, and intervention by visiting the National Fragile X Foundation website.