Fragile X Syndrome: A Review for General Pediatricians

Pediatr Ann. 2024 Jul;53(7):e269-e271. doi: 10.3928/19382359-20240502-08. Epub 2024 Jul 1.

Abstract

Fragile X syndrome is the most commonly inherited form of intellectual disability. Identifying fragile X syndrome at a young age can be quite challenging because the classical physical features usually present in late childhood or early adolescence; therefore, it is important to consider genetic testing for all males with unexplained developmental delays, intellectual disability, and autism, females with developmental delays, intellectual disability or autism, and a family history of fragile X gene disorders. There is no specific treatment to manage fragile X syndrome. Still, a prompt referral for early intervention is essential to help maximize the child's learning potential, as well as a referral to child psychology if any behavioral concerns are present. It is of paramount importance for families with a history of fragile X syndrome to have access to genetic counseling as it can aid in future reproductive decisions and the risk of future recurrences of this condition. [Pediatr Ann. 2024;53(7):e269-e271.].

Publication types

  • Review

MeSH terms

  • Adolescent
  • Child
  • Female
  • Fragile X Syndrome* / diagnosis
  • Fragile X Syndrome* / genetics
  • Genetic Counseling / methods
  • Genetic Testing / methods
  • Humans
  • Male
  • Pediatricians
  • Pediatrics / methods