Autistic Traits Associated with the Fragile X Premutation Allele: The Neurodevelopmental Profile

References

• Adams, P. E., Adams, J. S., Nguyen, D. V., Hessl, D., Brunberg, J. A., Tassone, F., Zhang, W., Koldewyn, K., Rivera, S. M., Grigsby, J., Zhang, L., DeCarli, C., Hagerman, P. J., & Hagerman, R. J. (2010). Psychological symptoms correlate with reduced hippocampal volume in fragile X premutation carriers. American Journal of Medical Genetics Part B, Neuropsychiatric Genetics, 153B(3), 775–785. https://doi.org/10.1002/ajmg.b.31046
   PubMed Web of Science ®Google Scholar
• American Psychiatric Association. (2013). Diagnostic and statistical manual of mental disorders. https://doi.org/10.1176/appi.books.9780890425596
   Google Scholar
• Aziz, M., Stathopulu, E., Callias, M., Taylor, C., Turk, J., Oostra, B., Willemsen, R., & Patton, M. (2003). Clinical features of boys with fragile X premutations and intermediate alleles. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 121B(1), 119–127. https://doi.org/10.1002/ajmg.b.20030
   PubMed Web of Science ®Google Scholar
• Bailey, D. B., Jr., Raspa, M., Olmsted, M., & Holiday, D. B. (2008). Co-occurring conditions associated with FMR1 gene variations: Findings from a national parent survey. American Journal of Medical Genetics Part A, 146A(16), 2060–2069. https://doi.org/10.1002/ajmg.a.32439
   PubMed Web of Science ®Google Scholar
• Berry-Kravis, E., Abrams, L., Coffey, S. M., Hall, D. A., Greco, C., Gane, L. W., Grigsby, J., Bourgeois, J. A., Finucane, B., Jacquemont, S., Brunberg, J. A., Zhang, L., Lin, J., Tassone, F., Hagerman, P. J., Hagerman, R. J., & Leehey, M. A. (2007). Fragile X-associated tremor/ataxia syndrome: Clinical features, genetics, and testing guidelines. Movement Disorders, 22(14), 2018–2030. https://doi.org/10.1002/mds.21493
   PubMed Web of Science ®Google Scholar
• Brown, S. S. G., Whalley, H. C., Kind, P. C., & Stanfield, A. C. (2019). Decreased functional brain response to emotional arousal and increased psychiatric symptomology in FMR1 premutation carriers. Psychiatry Research: Neuroimaging, 285, 9–17. https://doi.org/10.1016/j.pscychresns.2019.01.011
   PubMed Web of Science ®Google Scholar
• Chiang, C., Soong, W., Lin, T., & Rogers, S. J. (2008). Nonverbal communication skills in young children with autism. Journal of Autism & Developmental Disorders, 38(10), 1898–1906. https://doi.org/10.1007/s10803-008-0586-2
   PubMed Web of Science ®Google Scholar
• Chonchaiya, W., Au, J., Schneider, A., Hessl, D., Harris, S. W., Laird, M., Mu, Y., Tassone, F., Nguyen, D. V., & Hagerman, R. J. (2011). Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder. Human Genetics, 131(4), 581–589. https://doi.org/10.1007/s00439-011-1106-6
   PubMed Web of Science ®Google Scholar
• Clifford, S., Dissanayake, C., Bui, Q. M., Huggins, R., Taylor, A. K., & Loesch, D. Z. (2007). Autism spectrum phenotype in males and females with fragile X full mutation and premutation. Journal of Autism and Developmental Disorders, 37(4), 738–747. https://doi.org/10.1007/s10803-006-0205-z
   PubMed Web of Science ®Google Scholar
• Cornish, K. M., Li, L., Kogan, C. S., Jacquemont, S., Turk, J., Dalton, A., Hagerman, R. J., & Hagerman, P. J. (2008). Age-dependent cognitive changes in carriers of the fragile X syndrome. Cortex; a Journal Devoted to the Study of the Nervous System and Behavior, 44(6), 628–636. https://doi.org/10.1016/j.cortex.2006.11.002
   PubMed Web of Science ®Google Scholar
• Farzin, F., Perry, H., Hessl, D., Loesch, D., Cohen, J., Bacalman, S., Gane, L., Tassone, F., Hagerman, P., & Hagerman, R. (2006). Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation. Journal of Developmental and Behavioral Pediatrics, 27(Supplement 2), S137–S144. https://doi.org/10.1097/00004703-200604002-00012
   PubMed Web of Science ®Google Scholar
• Gallego, P. K., Burris, J. L., & Rivera, S. M. (2014). Visual motion processing deficits in infants with the fragile X premutation. Journal of Neurodevelopmental Disorders, 6(1). https://doi.org/10.1186/1866-1955-6-29
   PubMedGoogle Scholar
• García‐Nonell, C., Ratera, E. R., Harris, S., Hessl, D., Ono, M. Y., Tartaglia, N., Marvin, E., Tassone, F., & Hagerman, R. J. (2008). Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder. American Journal of Medical Genetics Part A, 146(15), 1911–1916. https://doi.org/10.1002/ajmg.a.32290
   Google Scholar
• Girardi, A. C. D. S., Opstal Takahashi, V. N., Vadasz, E., Costa, C. I. S., Zachi, E. C., Vianna‐Morgante, A. M., & Passos‐Bueno, M. R. (2022). FMR1 premutation in children with autism spectrum disorders: Should additional diagnostic tests be performed? American Journal of Medical Genetics Part A, 188(4), 1334–1337. https://doi.org/10.1002/ajmg.a.62624
   PubMed Web of Science ®Google Scholar
• Hagerman, R., Au, J., & Hagerman, P. (2011). FMR1 premutation and full mutation molecular mechanisms related to autism. Journal of Neurodevelopmental Disorders, 3(3), 211–224. https://doi.org/10.1007/s11689-011-9084-5
   PubMed Web of Science ®Google Scholar
• Hagerman, R. J., Protic, D., Rajaratnam, A., Salcedo-Arellano, M. J., Aydin, E. Y., & Schneider, A. (2018). Fragile X-associated neuropsychiatric disorders (FXAND). Frontiers in Psychiatry, 9(9). https://doi.org/10.3389/fpsyt.2018.00564
   PubMedGoogle Scholar
• Harris, S. W., Hessl, D., Goodlin-Jones, B., Ferranti, J., Bacalman, S., Barbato, I., Tassone, F., Hagerman, P. J., Herman, H., & Hagerman, R. J. (2008). Autism profiles of males with fragile X syndrome. American Journal of Mental Retardation: AJMR, 113(6), 427–438. https://doi.org/10.1352/2008.113:427-438
   PubMedGoogle Scholar
• Hessl, D., Rivera, S., Koldewyn, K., Cordeiro, L., Adams, J., Tassone, F., Hagerman, P. J., & Hagerman, R. J. (2007). Amygdala dysfunction in men with the fragile X premutation. Brain A Journal of Neurology, 130(2), 404–416. https://doi.org/10.1093/brain/awl338
   PubMedGoogle Scholar
• Hnoonual, A., Jankittunpaiboon, C., & Limprasert, P. (2021). Screening for FMR1 CGG repeat expansion in Thai patients with autism spectrum disorder. BioMed Research International, 2021, 4359308–4359311. https://doi.org/10.1155/2021/4359308
   PubMed Web of Science ®Google Scholar
• Hogan-Brown, A. L., Hoedemaker, R. S., Gordon, P. C., & Losh, M. (2014). Eye-voice span during rapid automatized naming: Evidence of reduced automaticity in individuals with autism spectrum disorder and their siblings. Journal of Neurodevelopmental Disorders, 6(1), 33. https://doi.org/10.1186/1866-1955-6-33
   PubMedGoogle Scholar
• Hunter, J. E., Allen, E. G., Abramowitz, A., Rusin, M., Leslie, M., Novak, G., Hamilton, D., Shubeck, L., Charen, K., & Sherman, S. L. (2008). Investigation of phenotypes associated with mood and anxiety among male and female fragile X premutation carriers. Behavior Genetics, 38(5), 493–502. https://doi.org/10.1007/s10519-008-9214-3
   PubMed Web of Science ®Google Scholar
• Hunter, J. E., Berry-Kravis, E., Hipp, H., & Todd, P. K. 1998. FMR1 Disorders. In M. P. Adam, J. Feldman, G. M. Mirzaa, R. A. Pagon, S. E. Wallace, L. J. H Bean, K. W Gripp, & A. Amemiya, (Eds), GeneReviews® [Internet] (pp. 1993–2024). Seattle (WA): University of Washington.
   Google Scholar
• Ingersoll, B., & Wainer, A. (2014). The broader autism phenotype. In F. R. Volkmar, S. J. Rogers, R. Paul, & K. A. Pelphrey (Eds.), Handbook of autism and pervasive developmental disorders (Vol. 1, pp. 28–56). John Wiley & Sons.
   Google Scholar
• Kaufmann, W. E., Cortell, R., Kau, A. S., Bukelis, I., Tierney, E., Gray, R. M., Cox, C., Capone, G. T., & Stanard, P. (2004). Autism spectrum disorder in fragile X syndrome: Communication, social interaction, and specific behaviors. American Journal of Medical Genetics Part A, 129(3), 225–234. https://doi.org/10.1002/ajmg.a.30229
   Google Scholar
• Klusek, J., Fairchild, A. J., & Roberts, J. E. (2019). Vagal tone as a putative mechanism for pragmatic competence: An investigation of carriers of the FMR1 premutation. Journal of Autism and Developmental Disorders, 49(1), 197–208. https://doi.org/10.1007/s10803-018-3714-7
   PubMed Web of Science ®Google Scholar
• Klusek, J., Martin, G. E., & Losh, M. (2014). Consistency between research and clinical diagnoses of autism among boys and girls with fragile X syndrome. Journal of Intellectual Disability Research: JIDR, 58(10), 940–952. https://doi.org/10.1111/jir.12121
   PubMed Web of Science ®Google Scholar
• Klusek, J., Ruber, A., & Roberts, J. E. (2018). Impaired eye contact in the FMR1 premutation is not associated with social anxiety or the broad autism phenotype. The Clinical Neuropsychologist, 32(7), 1337–1352. https://doi.org/10.1080/13854046.2017.1384063
   PubMed Web of Science ®Google Scholar
• Klusek, J., Schmidt, J., Fairchild, A. J., Porter, A., & Roberts, J. E. (2017). Altered sensitivity to social gaze in the FMR1 premutation and pragmatic language competence. Journal of Neurodevelopmental Disorders, 9(1), 31. https://doi.org/10.1186/s11689-017-9211-z
   PubMedGoogle Scholar
• Klusek, J., Will, E., Moser, C., Hills, K., Thurman, A. J., Abbeduto, L., & Roberts, J. E. (2023). Predictors, parental views, and concordance across diagnostic sources of autism in male youth with fragile X syndrome: clinical best estimate and community diagnoses. Research on Child and Adolescent Psychopathology, 51(7), 1–16. https://doi.org/10.1007/s10802-023-01044-1
   PubMedGoogle Scholar
• Lloyd, M., Macdonald, M., & Lord, C. (2011). Motor skills of toddlers with autism spectrum disorders. Autism, 17(2), 133–146. https://doi.org/10.1177/1362361311402230
   PubMed Web of Science ®Google Scholar
• López‐Mourelo, O., Mur, E., Madrigal, I., Alvarez‐Mora, M. I., Gómez‐Ansón, B., Pagonabarraga, J., Rodriguez‐Revenga, L., & Milà, M. (2017). Social anxiety and autism spectrum traits among adult FMR1 premutation carriers. Clinical Genetics, 91(1), 111–114. https://doi.org/10.1111/cge.12791
   PubMed Web of Science ®Google Scholar
• Losh, M., Klusek, J., Martin, G. E., Sideris, J., Parlier, M., & Piven, J. (2012). Defining genetically meaningful language and personality traits in relatives of individuals with fragile X syndrome and relatives of individuals with autism. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 159B(6), 660–668. https://doi.org/10.1002/ajmg.b.32070
   PubMed Web of Science ®Google Scholar
• Maenner, M. J. (2021). Prevalence and characteristics of autism spectrum disorder among children aged 8 years—autism and developmental disabilities monitoring network, 11 sites, United States, 2018. MMWR Surveillance Summaries, 70.
   Web of Science ®Google Scholar
• Maltman, N., Guilfoyle, J., Nayar, K., Martin, G. E., Winston, M., Lau, J. C. Y., Bush, L., Patel, S., Lee, M., Sideris, J., Hall, D. A., Zhou, L., Sharp, K., Berry-Kravis, E., & Losh, M. (2021). The phenotypic profile associated with the FMR1 premutation in women: An investigation of clinical-behavioral, social-cognitive, and executive abilities. Frontiers in Psychiatry, 12. https://doi.org/10.3389/fpsyt.2021.718485
   PubMed Web of Science ®Google Scholar
• Moore, C. J., Daly, E. M., Schmitz, N., Tassone, F., Tysoe, C., Hagerman, R. J., Hagerman, P. J., Morris, R. G., Murphy, K. C., & Murphy, D. G. M. (2004). A neuropsychological investigation of male premutation carriers of fragile X syndrome. Neuropsychologia, 42(14), 1934–1947. https://doi.org/10.1016/j.neuropsychologia.2004.05.002
   PubMed Web of Science ®Google Scholar
• Myers, G. F., Mazzocco, M. M. M., Maddalena, A., & Reiss, A. L. (2001). No widespread psychological effect of the fragile X premutation in childhood: Evidence from a preliminary controlled study. Journal of Developmental and Behavioral Pediatrics, 22(6), 353–359. https://doi.org/10.1097/00004703-200112000-00001
   PubMed Web of Science ®Google Scholar
• Nayar, K., McKinney, W., Hogan, A. L., Martin, G. E., La Valle, C., Sharp, K., Berry-Kravis, E., Norton, E. S., Gordon, P. C., Losh, M., & Hadjikhani, N. (2019). Language processing skills linked to FMR1 variation: A study of gaze-language coordination during rapid automatized naming among women with the FMR1 premutation. Public Library of Science ONE, 14(7), e0219924. https://doi.org/10.1371/journal.pone.0219924
   Google Scholar
• Norton, E. S., Black, J. M., Stanley, L. M., Tanaka, H., Gabrieli, J. D. E., Sawyer, C., & Hoeft, F. (2014). Functional neuroanatomical evidence for the double-deficit hypothesis of developmental dyslexia. Neuropsychologia, 61, 235–246. https://doi.org/10.1016/j.neuropsychologia.2014.06.015
   PubMed Web of Science ®Google Scholar
• Posar, A., & Visconti, P. (2018). Sensory abnormalities in children with autism spectrum disorder. Jornal de pediatria, 94(4), 342–350. https://doi.org/10.1016/j.jped.2017.08.008
   PubMed Web of Science ®Google Scholar
• Raspa, M., Wylie, A., Wheeler, A. C., Kolacz, J., Edwards, A., Heilman, K., & Porges, S. W. (2018). Sensory difficulties in children with an FMR1 premutation. Frontiers in Genetics, 9. https://doi.org/10.3389/fgene.2018.00351
   PubMed Web of Science ®Google Scholar
• Rubenstein, E., & Chawla, D. (2018). Broader autism phenotype in parents of children with autism: A systematic review of percentage estimates. Journal of Child & Family Studies, 27(6), 1705–1720. https://doi.org/10.1007/s10826-018-1026-3
   PubMed Web of Science ®Google Scholar
• Schneider, A., Johnston, C., Tassone, F., Sansone, S., Hagerman, R. J., Ferrer, E., Rivera, S. M., & Hessl, D. (2016a). Broad autism spectrum and obsessive–compulsive symptoms in adults with the fragile X premutation. The Clinical Neuropsychologist, 30(6), 929–943. https://doi.org/10.1080/13854046.2016.1189536
   PubMed Web of Science ®Google Scholar
• Schneider, A., Johnston, C., Tassone, F., Sansone, S., Hagerman, R. J., Ferrer, E., Rivera, S. M., & Hessl, D. (2016b). Broad autism spectrum and obsessive–compulsive symptoms in adults with the fragile X premutation. The Clinical Neuropsychologist, 30(6), 929–943. https://doi.org/10.1080/13854046.2016.1189536
   PubMed Web of Science ®Google Scholar
• Seltzer, M. M., Baker, M. W., Hong, J., Maenner, M., Greenberg, J., & Mandel, D. (2012). Prevalence of CGG expansions of the FMR1 gene in a US population-based sample. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 159B(5), 589–597. https://doi.org/10.1002/ajmg.b.32065
   PubMed Web of Science ®Google Scholar
• Wheeler, A. C., Mussey, J., Villagomez, A., Bishop, E., Raspa, M., Edwards, A., Bodfish, J., Bann, C., & Bailey, D. B. (2014). DSM-5 changes and the prevalence of parent-reported autism spectrum symptoms in fragile X syndrome. Journal of Autism and Developmental Disorders, 45(3), 816–829. https://doi.org/10.1007/s10803-014-2246-z
   Web of Science ®Google Scholar
• Wheeler, A. C., Sideris, J., Hagerman, R., Berry-Kravis, E., Tassone, F., & Bailey, D. B. (2016). Developmental profiles of infants with an FMR1 premutation. Journal of Neurodevelopmental Disorders, 8(1). https://doi.org/10.1186/s11689-016-9171-8
   Google Scholar
• White, S. J., Gerber, D., Sanchez Hernandez, R. D., Efiannayi, A., Chowdhury, I., Partington, H., & Moss, J. F. (2021). Autistic traits and mental health in women with the fragile-X premutation: Maternal status versus genetic risk. The British Journal of Psychiatry, 218(1), 28–34. https://doi.org/10.1192/bjp.2020.231
   PubMed Web of Science ®Google Scholar
• Winston, M., Nayar, K., Hogan, A. L., Barstein, J., La Valle, C., Sharp, K., Berry-Kravis, E., & Losh, M. (2020). Physiological regulation and social-emotional processing in female carriers of the FMR1 premutation. Physiology & Behavior, 214, 112746. https://doi.org/10.1016/j.physbeh.2019.112746
   PubMed Web of Science ®Google Scholar
• Winston, M., Nayar, K., Landau, E., Maltman, N., Sideris, J., Zhou, L., Sharp, K., Berry-Kravis, E., & Losh, M. (2021). A unique visual attention profile associated with the FMR1 premutation. Frontiers in Genetics, 12, 591211. https://doi.org/10.3389/fgene.2021.591211
   PubMed Web of Science ®Google Scholar
• Wirojanan, J., Angkustsiri, K., Tassone, F., Gane, L. W., & Hagerman, R. J. (2008). A girl with fragile X premutation from sperm donation. American Journal of Medical Genetics Part A, 146A(7), 888–892. https://doi.org/10.1002/ajmg.a.31876
   PubMed Web of Science ®Google Scholar
• Wittenberger, M. D., Hagerman, R. J., Sherman, S. L., McConkie-Rosell, A., Welt, C. K., Rebar, R. W., Corrigan, E. C., Simpson, J. L., & Nelson, L. M. (2007). The FMR1 premutation and reproduction. Fertility and Sterility, 87(3), 456–465. https://doi.org/10.1016/j.fertnstert.2006.09.004
   PubMed Web of Science ®Google Scholar