Table 3.

Common Themes in Pre-diagnosis, Diagnosis, and Post-diagnosis Stages

Stages	Common Themes
Pre-diagnosis	First signs of concern included delayed developmental milestones (e.g., sitting, crawling, walking, and talking), and behavioral issues (e.g., hyperactivity, averting eye contact, and hand flapping). Many doctors did not initially pursue chromosomal and/or fragile X testing. Instead, they treated symptoms with medications or intervention therapies. Some participants reported their child lacking the “typical” dysmorphic features associated with FXS. A common reported barrier to receiving a diagnosis of FXS was lack of FXS awareness by both physicians and family members. Half of the participants had to bring FXS to the attention of the physician. Participants who had a prior family history of FXS reported issues of miscommunication and misinformation about FXS among family members. All participants demonstrated the personality trait of being assertive and proactive about finding the cause for their child’s delays.
Diagnosis	The experience of receiving a FXS diagnosis varied among participants. Some described their physicians as supportive and informative while others described the interaction as terse and insensitive. A common response to the diagnosis of FXS was both devastation and relief in discovering the diagnosis.
Post-diagnosis	Sources of support included family, the internet, support groups, and the National Fragile X Foundation. Communication gap included challenges in sharing the diagnosis of FXS with other family members.