Prevalence of Fragile X syndrome in Georgian patients with autism spectrum disorder and/or intellectual disability: cross-sectional study and review of current approaches
One in 17 Georgian kids with ASD/ID has Fragile X, but families wait almost five years for the news—so BCBAs must push for immediate genetic testing.
01Research in Context
What this study did
Doctors in Georgia tested 441 children who already had autism or intellectual disability. They looked for the gene change that causes Fragile X syndrome.
The team used a cheek swab and DNA test. They also asked parents how long it took to get the FXS answer.
What they found
One in every 17 kids had the full Fragile X mutation. That is 5.9 percent of the group.
Families waited 4.6 years between the first ASD or ID label and the FXS news. Some kids were almost teens before anyone checked the gene.
How this fits with other research
Diemer et al. (2023) did the same DNA check on 235 Filipino children with ASD. They found zero full mutations. The 5.9 percent in Georgia looks like a big jump, but it is likely a real ethnic difference, not a mistake.
Aman et al. (1993) and Dougherty et al. (1994) ran early surveys in institutions and clinics. Their FXS rates were 2–8 percent, lining up with the new 5.9 percent figure. Tabatadze et al. (2025) simply repeats the old math in a modern ASD/ID clinic.
Finucane et al. (2013) asked 439 autism pros if they ever think about FXS. Most said no. The 4.6-year delay in Georgia shows the survey was right—clinicians still forget to order the test.
Why it matters
If you serve kids with ASD or ID, add one line to your intake: ‘Has DNA testing for Fragile X been done?’ When the answer is no, hand the family a genetics referral. Picking up FXS early gives access to targeted meds, family counseling, and syndrome-specific behavior plans. You can shorten the 4.6-year wait to a few weeks.
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02At a glance
03Original abstract
Fragile X syndrome (FXS) is the most common inherited form of intellectual disability (ID) and autism spectrum disorder (ASD). Despite its clinical importance, data on FXS prevalence in Georgia remains limited. This study aims to assess the prevalence of FXS in individuals with ID and/or ASD in Georgia and to review current diagnostic and management approaches. A total of 441 patients (n = 332 males and n = 109 females) diagnosed with ID and/or ASD based on DSM-5 criteria underwent genetic testing for FXS using a PCR-based approach. The FXS full mutation was identified in 25 patients (5.7%), and four individuals were carriers of the premutation. One patient had a large FMR1 deletion, thus the prevalence of the full mutation (FM) was 5.9%, and the prevalence of a premutation was 0.9%. The FXS-positive cohort showed a significant male predominance (80.77%). Among patients with ASD, 1.9% tested positive for FXS, and these individuals displayed more severe behavioral problems, requiring more intensive intervention. Phenotypic features such as a long face (76.9%), joint hypermobility (61.5%), and flat feet (53.8%) were commonly observed. The study underscores a significant diagnostic delay, with the average age of clinical ID/ASD diagnosis at 8.42 years and a lag of 4.63 years before FXS is identified. Compared to the U.S., where FXS diagnosis occurs at 35–41 months, Georgia faces significant barriers, including low awareness, lack of early screening, and limited access to genetic testing. Efforts to address these challenges include public awareness campaigns and integration of early genetic testing protocols.
Frontiers in Pediatrics, 2025 · doi:10.3389/fped.2025.1645386