Neurodevelopmental Disabilities in Children With Intermediate and Premutation Range Fragile X Cytosine-Guanine-Guanine Expansions. (March 2014)

• Record Type: Journal Article
• Authors: Renda, Meredith M.; Voigt, Robert G.; Babovic-Vuksanovic, Dusica; Highsmith, W. Edward; Vinson, Sherry S.; Sadowski, Christine M.; Hagerman, Randi J.
• Is Part Of: Journal of child neurology. Volume 29:Number 3(2014:Mar.)
• Page Start: 326
• Page End: 330
• Publication Date: 2014-03
• Subjects: fragile X syndrome -- premutation -- developmental disability; Nervous system -- Diseases -- Periodicals; 618.928
• DOI: 10.1177/0883073812469723
• Languages: English
• ISSNs: 0883-0738

Abstract

To determine the range of neurodevelopmental diagnoses associated with intermediate (45-54 repeats) and premutation (55-200 repeats) range cytosine-guanine-guanine fragile X expansions, the medical records of children with intermediate or premutation range expansions were retrospectively reviewed, and all neurodevelopmental diagnoses were abstracted. Twenty-nine children (9 female, 20 male; age, 13 months to 17 years) with intermediate (n = 25) or premutation (n = 4) range expansions were identified with neurodevelopmental diagnoses, including global developmental delay/intellectual disability (n = 15), language and learning disorders (n = 9), attention-deficit hyperactivity disorder (n = 5), epilepsy (n = 5), and motor disorders (n = 12), including 2 boys younger than 4 years of age with tremor and ataxia. Thus, children with intermediate or premutation range fragile X cytosine-guanine-guanine expansions may be more susceptible than children without such expansions to other processes, both genetic and environmental, that contribute to neurodevelopmental disability.