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The Canadian Paediatric Surveillance Program (CPSP) is a joint project of the Canadian Paediatric Society and the Public Health Agency of Canada, which undertakes the surveillance of rare diseases and conditions in children and youth. For more information, visit our website at www.cpsp.cps.ca. A 12-month-old boy is referred to you for developmental delay. He was slow to roll over and began sitting unassisted at 10 months of age. In retrospect, the parents believe he was floppy and less sociable compared with his older sister. Otherwise, his health is generally good, with normal growth. The pregnancy and delivery were uncomplicated. On the maternal side, an aunt experienced infertility secondary to early menopause in her twenties, and the grandfather, currently in his sixties, has experienced some balance problems and a tremor. On physical examination, the height, weight and head circumference are all in the 50th to 85th percentiles. There are no dysmorphic features. The examination is noteworthy for generalized low muscle tone and reduced social interaction. The child is diagnosed with global developmental delay. Investigations show a full mutation in the FMR1 gene, consistent with fragile X syndrome (FXS). A referral for genetic counselling is recommended.

Fragile X syndrome: Are paediatric health care providers missing the diagnosis?