Last updated November 12, 2019  

Family Adaptation to Fragile X Syndrome and
FMR1-Associated Conditions

Fragile X Syndrome Journal Articles

Hartley, S. L., DaWalt, L., Hong, J., Greenberg, J., & Mailick, M. R. (2019). Positive emotional support in premutation carrier mothers of adolescents and adults with fragile X syndrome: Gene by environment interactions. American Journal of Intellectual and Developmental Disabilities, 124(5):411-426. doi:10.1352/1944-7558-124.5.411.

Movaghar A, Page D, Brilliant M, Baker MW, Greenberg J, Hong J, DaWalt LS, Saha K, Kuusisto F, Stewart R, Berry-Kravis E, Mailick MR. (2019). Data-driven phenotype discovery of FMR1 premutation carriers in a population-based sample. Science Advances, 21;5(8):eaaw7195. doi:10.1126/sciadv.aaw7195.

Usher, L. V., DaWalt, L. S., Greenberg, J. S., Mailick, M. R. (2019). Unaffected siblings of adolescents and adults with fragile X syndrome: Direct and buffering effects on maternal health. Journal of Family Psychology, 33(4), 487-492. doi:10.1037/fam0000458.

Klusek, J., Porter, A., Abbeduto, L., Adayev, T., Tassone, F., Mailick, M. R., Glicksman, A., Tonnsen, B., & Roberts, J. E. (2018). Curvilinear association between language disfluency and FMR1 CGG repeat size across the normal, intermediate, and premutation range. Frontiers in Genetics, 9:344. PMID: 30197656, doi:10.3389/fgene.2018.00344

Laxman, D. J., Greenberg, J. S., DaWalt, L. S., Hong, J., Aman, M. G., & Mailick, M. R. (2018). Medication use by adolescents and adults with fragile X syndrome. Journal of Intellectual Disability Research, 62(2), 94-105. PMID: 20014373, doi:10.1002/ddrr.78.

Mailick, M. R., Movaghar, A., Hong, J., Greenberg, J. S., DaWalt, L. S., Zhou, L., Jackson, J., Rathouz, P., Baker, M. W., Brilliant, M., Page, D., Berry-Kravis, E. (2018). Health profiles of mosaic versus non-mosaic FMR1 premutation carrier mothers of children with fragile X syndrome. Frontiers in Genetics, 9(173). doi:10.3389/fgene.2018.00173.

Adamsheck, H. C., Petty, E. M., Hong, J., Baker, M. W., Brilliant, M. H., & Mailick, M. R. (2017). Is low FMR1 CGG repeat length in males correlated with family history of BRCA-associated cancers? An exploratory analysis of medical records. Journal of Genetic Counseling, 26(6), 1401-1410. PMID: 28667565, doi:10.1007/s10897-017-0116-5.

Chan, W., Smith, L. E., Greenberg, J. S., Hong, J., & Mailick, M. R. (2017). Executive functioning mediates the effect of behavioral problems on depression in mothers of children with developmental disabilities. American Journal on Intellectual and Developmental Disabilities, 122(1), 11-24. PMID: 28095060, doi:10.1352/1944-7558-122.1.11.

DaWalt, L. S., Usher, L. V., Greenberg, J. S., & Mailick, M. R. (2017). Friendships and social participation as markers of quality of life of adolescents and adults with fragile X syndrome and autism. Autism, 23(2):383-393. doi:10.1177/1362361317709202.

Mailick, M. R., Hong, J., Greenberg, J., Dawalt, L. S., Baker, M. W., & Rathouz, P. J. (2017). FMR1 genotype interacts with parenting stress to shape health and functional abilities in older age. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 174(4), 399-412.PMID: 28407408, doi:10.1002/ajmg.b.32529.

Movaghar, A., Mailick, M. R., Sterling, A., Greenberg, J., & Saha, K. (2017). Automated screening for Fragile X premutation carriers based on linguistic and cognitive computational phenotypes. Scientific Reports, 7(1), 2674. PMID: 28572606, doi:10.1038/s41598-017-02682-4.

Wheeler, A., Raspa, M., Hagerman, R., Mailick, M. R., & Riley, C. (2017). Implications of the FMR1 premutation for children, adolescents, adults, and their families. Pediatrics, 139 (Supplement 3), S172-S182. PMID: 28814538, doi:10.1542/peds.2016-1159D.

Smith, L. E., Hong, J., Greenberg, J. S., & Mailick, M. R. (2016). Change in the behavioral phenotype of adolescents and adults with FXS: Role of the family environment. Journal of Autism and Developmental Disorders, 46(5), 1824-1833. PMID: 26861717, doi:10.1007/s10803-016-2714-8.

Hartley, S. L., Wheeler, A. C., Mailick, M. R., Raspa, M., Mihaila, I., Bishop, E., & Bailey, D. B. (2015). Autism symptoms across adulthood in men with fragile X syndrome: A cross-sectional analysis. Journal of Autism and Developmental Disorders, 45(11), 3668-3679. doi:10.1007/s10803-015-2513-7.

Mailick, M. R., Hong, J., Greenberg, J., Smith, L., & Sherman, S. (2014). Curvilinear association of CGG repeats and age at menopause in women with FMR1 premutation expansions. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 165(8), 705-711. PMID: 25346430, doi:10.1002/ajmg.b.32277.

Mailick, M. R., Hong, J., Rathouz, P., Baker, M. W., Greenberg, J. S., Smith, L., & Maenner, M. (2014). Low-normal FMR1 CGG repeat length: phenotypic associations. Frontiers in Genetics, 5, 309. PMID: 24780842, doi:10.1093/aje/kwu066.

Wheeler, A. C., Bailey Jr, D. B., Berry-Kravis, E., Greenberg, J., Losh, M., Mailick, M. R., Milà, M., Olichney, J. M., Rodriguez-Revenga, L., Sherman, S., Smith, L., Summers, S., Yang, J-C., & Hagerman, R. (2014). Associated features in females with an FMR1 premutation. Journal of Neurodevelopmental Disorders, 6(1), 30. PMID: 25097672, doi:10.1186/1866-1955-6-30.

Wong, J. D., Mailick, M. R., Greenberg, J. S., Hong, J., & Coe, C. L. (2014). Daily work stress and awakening cortisol in mothers of individuals with autism spectrum disorders or fragile X syndrome. Family Relations, 63(1), 135-147. PMID: 25313265, doi:10.1111/fare.12055.

Maenner, M. J., Smith, L. E., Hong, J., Makuch, R., Greenberg, J. S., & Mailick, M. R. (2013). Evaluation of an activities of daily living scale for adolescents and adults with developmental disabilities. Disability and Health Journal, 6(1), 8-17. doi:10.1016/j.dhjo.2012.08.005.

Maenner, M. J., Baker, M. W., Broman, K. W., Tian, J., Barnes, J. K., Atkins, A., McPherson, E., Hong, J., Brilliant, M., & Mailick, M. R. (2013). FMR1 CGG expansions: prevalence and sex ratios. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 162(5), 466-473. PMID: 23740716, doi:10.1002/ajmg.b.32176.

Sterling, A. M., Mailick, M. R., Greenberg, J., Warren, S. F., & Brady, N. (2013). Language dysfluencies in females with the FMR1 premutation. Brain and Cognition, 82(1), 84-89. PMID: 23523717, doi:10.1016/j.bandc.2013.02.009.

Baker, J. K., Seltzer, M. M., & Greenberg, J. S. (2012). Behaviour problems, maternal internalising symptoms and family relations in families of adolescents and adults with fragile X syndrome. Journal of Intellectual Disability Research, 56(10), 984-995. PMID: 22676314, doi:10.1111/j.1365-2788.2012.01580.x.

Greenberg, J. S., Seltzer, M. M., Baker, J. K., Smith, L. E., F. Warren, S., Brady, N., & Hong, J. (2012). Family environment and behavior problems in children, adolescents, and adults with fragile X syndrome. American Journal on Intellectual and Developmental Disabilities, 117(4), 331-346. PMID: 22809078, doi:10.1352/1944-7558-117.4.331.

Hartley, S. L., Seltzer, M. M., Hong, J., Greenberg, J. S., Smith, L., Almeida, D., Coe, C., & Abbeduto, L. (2012). Cortisol response to behavior problems in FMR1 premutation mothers of adolescents and adults with fragile X syndrome: A diathesis-stress model. International Journal of Behavioral Development, 36(1), 53-61. PMID: 22798702, doi:10.1177/0165025411406857.

Hartley, S. L., Seltzer, M. M., Head, L., & Abbeduto, L. (2012). Psychological well‐being in fathers of adolescents and young adults with Down syndrome, fragile X syndrome, and autism. Family Relations, 61(2), 327-342. PMID: 22611299, doi:10.1111/j.1741-3729.2011.00693.x.

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, 159(5), 589-597.PMID: 22619118, doi:10.1002/ajmg.b.32065.

Seltzer, M. M., Barker, E. T., Greenberg, J. S., Hong, J., Coe, C., & Almeida, D. (2012). Differential sensitivity to life stress in FMR1 premutation carrier mothers of children with fragile X syndrome. Health Psychology, 31(5), 612. PMID: 22149120, doi:10.1037/a0026528.

Smith, L. E., Barker, E. T., Seltzer, M. M., Abbeduto, L., & Greenberg, J. S. (2012). Behavioral phenotype of fragile X syndrome in adolescence and adulthood. American Journal on Intellectual and Developmental Disabilities, 117(1), 1-17. PMID: 22264109, doi:10.1352/1944-7558-117.1.1.

Smith, L. E., Seltzer, M. M., & Greenberg, J. S. (2012). Daily health symptoms of mothers of adolescents and adults with fragile X syndrome and mothers of adolescents and adults with autism spectrum disorder. Journal of Autism and Developmental Disorders, 42(9), 1836-1846. PMID: 22167342, doi:10.1007/s10803-011-1422-7.

Hartley, S. L., Seltzer, M. M., Raspa, M., Olmstead, M., Bishop, E., & Bailey Jr, D. B. (2011). Exploring the adult life of men and women with fragile X syndrome: results from a national survey. American Journal of Intellectual and Developmental Disabilities, 116(1), 16-35. PMID: 21291308, doi:10.1352/1944-7558-116.1.16.

Abbeduto, L., Seltzer, M. M., Shattuck, P., Krauss, M. W., Orsmond, G., & Murphy, M. M. (2004). Psychological well-being and coping in mothers of youths with autism, Down syndrome, or fragile X syndrome. American Journal on Mental Retardation, 109(3), 237-254. PMID: 15072518, doi:10.1352/0895-8017(2004)109<237:PWACIM>2.0.CO;2.

Fragile X Syndrome Book Chapters


Mailick, M. R., Greenberg, J. S., Smith, L. E., Sterling, A., Brady, N., Warren, S. F., & Hong, J. (2014). Fragile X-associated disorders: How the family environment and genotype interact. In Burack, J., & Schmidt, L. (Eds.), Cultural and contextual perspectives on developmental risk and well-being (pp. 221-253). Cambridge, UK: Cambridge University Press.


Seltzer, M. M., Abbeduto, L., Greenberg, J. S., Almeida, D., Hong, J., & Witt, W. (2009). Biomarkers in the study of families of children with developmental disabilities. In L. M. Glidden & M. M. Seltzer (Eds.), International review of research on mental retardation (pp. 213-250). New York, NY: Academic Press.

Esbensen, A. J., Seltzer, M. M., & Abbeduto, L. (2007). Family well-being in Down syndrome and fragile X syndrome. In J. E. Roberts, R. Chapman, & S. Warren (Eds.), Speech and language development and intervention in Down syndrome and fragile X syndrome (pp. 275-295). Baltimore, MD: Brookes.

 

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