title: Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosis.
abstract: Triple X syndrome (47, XXX) occurs in approximately 1:1,000 female births and has a variable phenotype of physical and psychological features. Prenatal diagnosis rates of 47, XXX are increasing due to non-invasive prenatal genetic testing. Previous studies suggest that prenatal diagnosed females have better neurodevelopmental outcomes. This cross-sectional study describes diagnosis, physical features, medical problems, and neurodevelopmental features in a large cohort of females with 47, XXX. Evaluation included review of medical and developmental history, physical exam, cognitive, and adaptive testing. Medical and developmental features were compared between the prenatal and postnatal diagnosis groups using rate calculations and Fisher's exact test. Cognitive and adaptive tests scores were compared using t-tests. Seventy-four females age 6 months-24 years (mean 8.3 years) participated. Forty-four (59.5%) females were in the prenatal diagnosis group. Mean age of postnatal diagnosis was 5.9 years; developmental delay was the most common indication for postnatal genetic testing. Common physical features included hypertelorism, epicanthal folds, clinodactyly, and hypotonia. Medical problems included dental disorders (44.4%), seizure disorders (16.2%), genitourinary malformations (12.2%). The prenatal diagnosis group had higher verbal (P < 0.001), general ability index (P = 0.004), and adaptive functioning scores (P < 0.001). Rates of ADHD (52.2% vs. 45.5%, P = 0.77) and learning disabilities (39.1% vs. 36.3%, P = 1.00) were similar between the two groups. These findings expand on the phenotypic features in females with Triple X syndrome and support that prenatally ascertained females have better cognitive and functional outcomes. However, prenatally diagnosed females are still at risk for neurodevelopmental disorders. Genetic counseling and treatment recommendations are summarized. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Department of Pediatrics, Developmental Pediatrics, University of Colorado School of Medicine, Aurora, Colorado.|Division of Genetics, Department of Pediatrics, University of California San Diego, La Jolla, California.
authors.forename: Kristen
authors.initials: K
authors.lastname: Wigby
authors.affiliation: Department of Pediatrics, Developmental Pediatrics, University of Colorado School of Medicine, Aurora, Colorado.
authors.forename: Cheryl
authors.initials: C
authors.lastname: D'Epagnier
authors.affiliation: Department of Pediatrics, Developmental Pediatrics, University of Colorado School of Medicine, Aurora, Colorado.|eXtraordinarY Kids Clinic, Developmental Pediatrics, Children's Hospital Colorado, Aurora, Colorado.
authors.forename: Susan
authors.initials: S
authors.lastname: Howell
authors.affiliation: Genetic Counseling Program, University of Colorado Denver, Colorado.
authors.forename: Amy
authors.initials: A
authors.lastname: Reicks
authors.affiliation: eXtraordinarY Kids Clinic, Developmental Pediatrics, Children's Hospital Colorado, Aurora, Colorado.
authors.forename: Rebecca
authors.initials: R
authors.lastname: Wilson
authors.affiliation: Department of Pediatrics, Developmental Pediatrics, University of Colorado School of Medicine, Aurora, Colorado.
authors.forename: Lisa
authors.initials: L
authors.lastname: Cordeiro
authors.affiliation: Department of Pediatrics, Developmental Pediatrics, University of Colorado School of Medicine, Aurora, Colorado. Nicole.Tartaglia@childrenscolorado.org.|eXtraordinarY Kids Clinic, Developmental Pediatrics, Children's Hospital Colorado, Aurora, Colorado. Nicole.Tartaglia@childrenscolorado.org.
authors.forename: Nicole
authors.initials: N
authors.lastname: Tartaglia
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D041321:Chromosomes, Human, X / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics; D019066:Facies; D005260:Female; D056726:Genetic Association Studies; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D007621:Karyotyping; D059906:Neuroimaging; D009483:Neuropsychological Tests; D010641:Phenotype; D010808:Physical Examination; D011296:Prenatal Diagnosis; D012729:Sex Chromosome Aberrations; D058533:Sex Chromosome Disorders of Sex Development / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics*; D055815:Young Adult
keywords: 47, XXX; sex chromosome aneuploidy (SCA); triple X syndrome; triplo-X; trisomy X