title: Neurodevelopmental disabilities in children with intermediate and premutation range fragile X cytosine-guanine-guanine expansions.
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.
authors.affiliation: 1Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN, USA.
authors.forename: Meredith M
authors.initials: MM
authors.lastname: Renda
authors.forename: Robert G
authors.initials: RG
authors.lastname: Voigt
authors.forename: Dusica
authors.initials: D
authors.lastname: Babovic-Vuksanovic
authors.forename: W Edward
authors.initials: WE
authors.lastname: Highsmith
authors.forename: Sherry S
authors.initials: SS
authors.lastname: Vinson
authors.forename: Christine M
authors.initials: CM
authors.lastname: Sadowski
authors.forename: Randi J
authors.initials: RJ
authors.lastname: Hagerman
mesh_terms: D000293:Adolescent; D001289:Attention Deficit Disorder with Hyperactivity / Q000235:genetics; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000235:genetics; D002675:Child, Preschool; D003596:Cytosine; D002658:Developmental Disabilities / Q000235:genetics*; D004827:Epilepsy / Q000235:genetics; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D006147:Guanine; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007805:Language Development Disorders / Q000235:genetics; D007859:Learning Disabilities / Q000235:genetics; D008297:Male; D009069:Movement Disorders / Q000235:genetics; D009154:Mutation; D012189:Retrospective Studies; D019680:Trinucleotide Repeat Expansion
chemical_list: D003596:Cytosine; D051860:Fragile X Messenger Ribonucleoprotein 1; D006147:Guanine