Fragile X syndrome – a common disease rarely diagnosed

Fragile X syndrome (FXS) is a single-gene disorder with a broad spectrum of involvement, including cognitive and behavioural impairments of varying degrees with specific physical features and with strong association with autism. The study was conducted on 23 males (10-32 years old) who had full mutation in the FMR1 gene. A complete medical evaluation, including medical history, family history, psychological testing and physical examination was conducted on each subject. Three of the FXS patients (13%) were isolated cases of mental retardation in the family. The remaining 20 FXS patients belonged to 15 families, where there were other mentally retarded family members present. The degree of mental retardation (MR) varied. Mild MR was diagnosed in 1/23 (4.35%), moderate MR in 12/23 (52.17%), severe MR in 10/23 (43.48 %). Moreover, autism spectrum disorder was diagnosed in 5/23 (21.74%) FXS patients. Analysis of the BMI showed that in FXS patients, 14 of 23 (60.68%) had too high body weight - 9/23 (39.13%) were overweight and 5/23 (21.74%) were obese. The diagnosis of FXS is difficult because of nonspecific symptoms, yet early diagnosis is crucial for early intervention and genetic counseling. The risk of recurrence is 50%.