Autism Spectrum Disorder Symptoms in Infants with Fragile X Syndrome: A Prospective Case Series.
Abigail L Hogan, Kelly E Caravella, Jordan Ezell and 3 others
PMID 28281129WHAT IT FOUND
In a small series of infants with fragile X syndrome, early autism features were common in infancy, but by the second year they were mainly seen in those later diagnosed with autism.
Social communication differences were noted in the case summaries.
Key findings
01At nine months, 100% (n = 4) of infants later diagnosed with autism exceeded the total-score risk cutoff, and 75% (n = 3) of infants not later diagnosed exceeded it; the difference was not significant.
02At 12 months, 100% (n = 3) of infants later diagnosed with autism exceeded the total-score risk cutoff, and 25% (n = 1) of infants not later diagnosed exceeded it; the difference was marginal.
03At 12 months, 100% (n = 3) of infants later diagnosed with autism exceeded the total-marker risk cutoff, and 25% (n = 1) of infants not later diagnosed exceeded it; the difference was marginal.
STILL TO COME
How it was doneWhat they foundWhat it means for SLPs
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What it does not show
The study included only four infants in each outcome group, so patterns cannot be generalised to other infants with fragile X syndrome. The paper did not follow children beyond 24 months, so it cannot show whether early signs predicted long-term autism status. Some assessment time points were missing because of scheduling conflicts or incomplete parent forms. The case summaries are descriptive and do not test whether any behaviour causes or predicts later autism diagnosis.
The easy way to misread this
Do not read the 9-month elevated scores as proof that an infant already has autism or that a specific marker will predict diagnosis. Seven of eight infants had elevated scores at 9 months, and only four later received an autism diagnosis. The study is a case series of eight children and cannot establish prediction.