Diagnosis of fragile-X syndrome: the experiences of parents.
Parents still feel lost after the fragile-X test—BCBAs can step in right at diagnosis.
01Research in Context
What this study did
Carmichael et al. (1999) asked UK parents how it felt to get a fragile-X diagnosis for their child.
They mailed a short survey to families who already had the genetic test result.
What they found
Parents said the wait for answers had shrunk, but they still felt alone and unsure.
They wanted clearer explanations and someone to talk with after the test.
How this fits with other research
Raspa et al. (2014) later showed that good social support lifts family quality of life.
McCarthy et al. (2006) found mom’s stress hinges on marital happiness, dad’s on child skills.
Hilton et al. (2010) added that money worries and job loss hit these families hard.
Together the papers say: diagnosis is faster, yet families still need emotional, marital, and financial help.
Why it matters
You can close the gap. When a child you serve gets a fragile-X result, call the genetics clinic and ask to join the family meeting. Offer to explain behavior terms in plain words and hand parents the local Fragile-X support group phone number before they leave the office.
Want CEUs on This Topic?
The ABA Clubhouse has 60+ free CEUs — live every Wednesday. Ethics, supervision & clinical topics.
Join Free →Add a genetics-clinic phone number and local Fragile-X parent link to your intake packet.
02At a glance
03Original abstract
In order to assess some aspects of the quality of care for families seeking the cause of their child(ren)s intellectual disability, a postal questionnaire was sent to parents of children with fragile-X syndrome, who were members of the UK Fragile-X Society. Although the interval taken to get a diagnosis ('lagtime') has fallen over time, other aspects of care could still be improved. Most families feel that having a diagnosis is an advantage, but many still find the diagnostic process distressing and feel unsupported. Not all families are referred for genetic counselling, and even those who are do not always understand or retain the information given. Most families feel that having a diagnosis is a benefit rather than a disadvantage.
Journal of intellectual disability research : JIDR, 1999 · doi:10.1046/j.1365-2788.1999.43120157.x