Parents’ initial concerns about the development of their children later diagnosed with fragile X syndrome

References

• Abbeduto, L., Brady, N., & Kover, S. T. (2007). Language development and fragile X syndrome: Profiles, syndrome-specificity, and within-syndrome differences. Mental Retardation and Developmental Disabilities Research Reviews, 13, 36–46. doi:10.1002/mrdd.20142
   PubMedGoogle Scholar
• Abrams, L., Cronister, A., Brown, W. T., Tassone, F., Sherman, S. L., Finucane, B., … Berry-Kravis, E. (2012). Newborn, carrier, and early childhood screening recommendations for fragile X. Pediatrics, 130, 1126–1135. doi:10.1542/peds.2012-0693
   PubMed Web of Science ®Google Scholar
• Bailey, D. B., Jr., Mesibov, G. B., Hatton, D. D., Clark, R. D., Roberts, J. E., & Mayhew, L. (1998). Autistic behavior in young boys with fragile X syndrome. Journal of Autism and Developmental Disorders, 28, 499–508. doi:10.1023/A:1026048027397
   PubMed Web of Science ®Google Scholar
• Bailey, D. B., Jr., Raspa, M., Bishop, E., & Holiday, D. (2009). No change in the age of diagnosis for fragile X syndrome: Findings from a national parent survey. Pediatrics, 124, 527–533. doi:10.1542/peds.2008-2992
   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, 2060–2069. doi:10.1002/ajmg.a.32439
   PubMed Web of Science ®Google Scholar
• Bailey, D. B., Jr., Skinner, D., Hatton, D., & Roberts, J. (2000). Family experiences and factors associated with the diagnosis of fragile X syndrome. Journal of Developmental & Behavioral Pediatrics, 21, 315–321. doi:10.1097/00004703-200010000-00001
   PubMed Web of Science ®Google Scholar
• Bailey, D. B., Jr., Skinner, D., & Sparkman, K. L. (2003). Discovering fragile X syndrome: Family experiences and perceptions. Pediatrics, 111, 407–416. doi:10.1542/peds.111.2.407
   PubMed Web of Science ®Google Scholar
• Baranek, G. T., Danko, C. D., Skinner, M. L., Bailey, D. B., Jr., Hatton, D. D., Roberts, J. E., & Mirrett, P. L. (2005). Video analysis of sensory-motor features in infants with fragile X syndrome at 9–12 months of age. Journal of Autism and Developmental Disorders, 35, 645–656. doi:10.1007/s10803-005-0008-7
   PubMed Web of Science ®Google Scholar
• Baranek, G. T., Roberts, J. E., David, F. J., Sideris, J., Mirrett, P. L., Hatton, D. D., & Bailey, D. B., Jr. (2008). Developmental trajectories and correlates of sensory processing in young boys with fragile X syndrome. Physical & Occupational Therapy in Pediatrics, 28, 79–98. doi:10.1300/J006v28n01_06
   PubMedGoogle Scholar
• Boyle, L., & Kaufmann, W. E. (2010). The behavioral phenotype of FMR1 mutations. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 154C, 469–476. doi:10.1002/ajmg.c.30277
   PubMed Web of Science ®Google Scholar
• Carmichael, B., Pembrey, M., Turner, G., & Barnicoat, A. (1999). Diagnosis of fragile-X syndrome: The experiences of parents. Journal of Intellectual Disability Research, 43, 47–53. doi:10.1046/j.1365-2788.1999.43120157.x
   PubMed Web of Science ®Google Scholar
• Charman, T., Cass, H., Owen, L., Wigram, T., Slonims, V., Weeks, L., … Reilly, S. (2002). Regression in individuals with Rett syndrome. Brain & Development, 24, 281–283. doi:10.1016/S0387-7604(02)00058-X
   PubMed Web of Science ®Google Scholar
• Essop, F. B., & Krause, A. (2013). Diagnostic, carrier and prenatal genetic testing for fragile X syndrome and other FMR-1-related disorders in Johannesburg, South Africa: A 20-year review. South African Medical Journal, 103(Suppl. 1), 994–998. doi:10.7196/samj.7144
   PubMed Web of Science ®Google Scholar
• Farzin, F., Rivera, S. M., & Whitney, D. (2011). Resolution of spatial and temporal visual attention in infants with fragile X syndrome. Brain, 134, 3355–3368. doi:10.1093/brain/awr249
   PubMed Web of Science ®Google Scholar
• Finestack, L. H., Richmond, E. K., & Abbeduto, L. (2009). Language development in individuals with fragile X syndrome. Topics in Language Disorders, 29, 133–148. doi:10.1097/TLD.0b013e3181a72016
   PubMed Web of Science ®Google Scholar
• Gabis, L., & Kesner, Y. (2007). [Behavioral characteristics of children with fragile X syndrome]. Harefuah, 146, 469–474, 499.
   PubMedGoogle Scholar
• Goldberg, W. A., Thorsen, K. L., Osann, K., & Spence, M. A. (2008). Use of home videotapes to confirm parental reports of regression in autism. Journal of Autism and Developmental Disorders, 38, 1136–1146. doi:10.1007/s10803-007-0498-6
   PubMed Web of Science ®Google Scholar
• Hagerman, P. J. (2008). The fragile X prevalence paradox. Journal of Medical Genetics, 45, 498–499. doi:10.1136/jmg.2008.059055
   PubMed Web of Science ®Google Scholar
• Hagerman, R. J. (2002). The physical and behavioral phenotype. In R. J. Hagerman & P. J. Hagerman (Eds.), Fragile X syndrome: Diagnosis, treatment, and research (pp. 3–109). Baltimore, MD: Johns Hopkins University Press.
   Google Scholar
• Hagerman, R. J., Berry-Kravis, E., Kaufmann, W. E., Ono, M. Y., Tartaglia, N., Lachiewicz, A., … Tranfaglia, M. (2009). Advances in the treatment of fragile X syndrome. Pediatrics, 123, 378–390. doi:10.1542/peds.2008-0317
   PubMed Web of Science ®Google Scholar
• Hagerman, R. J., & Hagerman, P. J. (Eds.). (2002). Fragile X syndrome: Diagnosis, treatment, and research (3rd ed.). Baltimore, MD: Johns Hopkins University Press.
   Google Scholar
• Hatton, D. D., Wheeler, A., Sideris, J., Sullivan, K., Reichardt, A., Roberts, J., … Bailey, D. B., Jr. (2009). Developmental trajectories of young girls with fragile X syndrome. American Journal on Intellectual and Developmental Disabilities, 114, 161–171. doi:10.1352/1944-7558-114.3.161
   PubMedGoogle Scholar
• Hayes, E. W., & Matalon, R. (2009). Fragile X syndrome. Pediatrics, 124, 790–792. doi:10.1542/peds.2009-0569
   PubMed Web of Science ®Google Scholar
• Henry, B., Moffitt, T. E., Caspi, A., Langley, J., & Silva, P. A. (1994). On the “remembrance of things past”: A longitudinal evaluation of the retrospective method. Psychological Assessment, 6, 92–101. doi:10.1037/1040-3590.6.2.92
   Google Scholar
• Hessl, D., Glaser, B., Dyer-Friedman, J., & Reiss, A. L. (2006). Social behavior and cortisol reactivity in children with fragile X syndrome. Journal of Child Psychology and Psychiatry, 47, 602–610. doi:10.1111/j.1469-7610.2005.01556.x
   PubMed Web of Science ®Google Scholar
• Hinton, R., Budimirovic, D. B., Marschik, P. B., Talisa, V. B., Einspieler, C., Gipson, T., & Johnston, M. V. (2013). Parental reports on early language and motor milestones in fragile X syndrome with and without autism spectrum disorders. Developmental Neurorehabilitation, 16, 58–66. doi:10.3109/17518423.2012.704414
   PubMed Web of Science ®Google Scholar
• Iredale, R., Turpin, T., & Bailey, D. (2009). The Australian and New Zealand fragile X family survey. Sydney, Australia: Fragile X Association of Australia.
   Google Scholar
• Kaufmann, W. E., Cortell, R., Kau, A. S. M., Bukelis, I., Tierney, E., Gray, R. M., … Stanard, P. (2004). Autism spectrum disorder in fragile X syndrome: Communication, social interaction, and specific behaviors. American Journal of Medical Genetics Part A, 129A, 225–234. doi:10.1002/ajmg.a.30229
   PubMed Web of Science ®Google Scholar
• Kozlowski, A. M., Matson, J. L., Horovitz, M., Worley, J. A., & Neal, D. (2011). Parents’ first concerns of their child’s development in toddlers with autism spectrum disorders. Developmental Neurorehabilitation, 14, 72–78. doi:10.3109/17518423.2010.539193
   PubMed Web of Science ®Google Scholar
• Leßmann, J., & Sarimski, K. (2013). Diagnosemitteilung beim Fragilen-X-Syndrom—retrospektive Befragung von Eltern [Family experiences with the diagnosis of fragile X syndrome—results of a retrospective parental survey]. Praxis der Kinderpsychologie und Kinderpsychiatrie, 62, 420–434. doi:10.13109/prkk.2013.62.6.420
   PubMed Web of Science ®Google Scholar
• Loftus, E. F., & Marburger, W. (1983). Since the eruption of Mt. St. Helens, has anyone beaten you up? Improving the accuracy of retrospective reports with landmark events. Memory & Cognition, 11, 114–120. doi:10.3758/BF03213465
   PubMed Web of Science ®Google Scholar
• Lord, C., Shulman, C., & DiLavore, P. (2004). Regression and word loss in autistic spectrum disorders. Journal of Child Psychology and Psychiatry, 45, 936–955. doi:10.1111/j.1469-7610.2004.t01-1-00287.x
   PubMed Web of Science ®Google Scholar
• Marschik, P. B., Bartl-Pokorny, K. D., Sigafoos, J., Urlesberger, L., Pokorny, F., Didden, R., … Kaufmann, W. E. (2014). Development of socio-communicative skills in 9- to 12-month-old individuals with fragile X syndrome. Research in Developmental Disabilities, 35, 597–602. doi:10.1016/j.ridd.2014.01.004
   PubMed Web of Science ®Google Scholar
• Meguid, N. A., Ismail, M. F., El-Mahdy, R. S., Barakat, M. A., & El-Awady, M. K. (2014). Simple molecular diagnostic method for fragile X syndrome in Egyptian patients: Pilot study. Acta Biochimica Polonica, 61, 259–263.
   PubMed Web of Science ®Google Scholar
• Mirrett, P. L., Bailey, D. B., Jr., Roberts, J. E., & Hatton, D. D. (2004). Developmental screening and detection of developmental delays in infants and toddlers with fragile X syndrome. Journal of Developmental & Behavioral Pediatrics, 25, 21–27. doi:10.1097/00004703-200402000-00004
   PubMed Web of Science ®Google Scholar
• Neul, J. L., Lane, J. B., Lee, H.-S., Geerts, S., Barrish, J. O., Annese, F., … Percy, A. K. (2014). Developmental delay in Rett syndrome: Data from the natural history study. Journal of Neurodevelopmental Disorders, 6, 20, 1–9. doi:10.1186/1866-1955-6-20
   Web of Science ®Google Scholar
• Prouty, L. A., Rogers, R. C., Stevenson, R. E., Dean, J. H., Palmer, K. K., Simensen, R. J., … Schwartz, C. E. (1988). Fragile X syndrome: Growth, development, and intellectual function. American Journal of Medical Genetics Part A, 30, 123–142. doi:10.1002/ajmg.1320300111
   PubMed Web of Science ®Google Scholar
• Roberts, J. E., Bailey, D. B., Jr., Mankowski, J., Ford, A., Sideris, J., Weisenfeld, L. A., … Golden, R. N. (2009). Mood and anxiety disorders in females with the FMR1 premutation. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics, 150B, 130–139. doi:10.1002/ajmg.b.30786
   PubMed Web of Science ®Google Scholar
• Roberts, J. E., Mankowski, J. B., Sideris, J., Goldman, B. D., Hatton, D. D., Mirrett, P. L., … Bailey, D. B., Jr. (2009). Trajectories and predictors of the development of very young boys with fragile X syndrome. Journal of Pediatric Psychology, 34, 827–836. doi:10.1093/jpepsy/jsn129
   PubMed Web of Science ®Google Scholar
• Roberts, J. E., Mirrett, P., Anderson, K., Burchinal, M., & Neebe, E. (2002). Early communication, symbolic behavior, and social profiles of young males with fragile X syndrome. American Journal of Speech-Language Pathology, 11, 295–304. doi:10.1044/1058-0360(2002/034)
   Web of Science ®Google Scholar
• Roberts, J. E., Mirrett, P., & Burchinal, M. (2001). Receptive and expressive communication development of young males with fragile X syndrome. American Journal on Mental Retardation, 106, 216–230. doi:10.1352/0895-8017(2001)106 < 0216:RAECDO > 2.0.CO;2
   PubMedGoogle Scholar
• Roberts, J. E., Tonnsen, B., Robinson, A., & Shinkareva, S. V. (2012). Heart activity and autistic behavior in infants and toddlers with fragile X syndrome. American Journal on Intellectual and Developmental Disabilities, 117, 90–102. doi:10.1352/1944-7558-117.2.90
   PubMedGoogle Scholar
• Rogers, S. J., Hepburn, S. L., Stackhouse, T., & Wehner, E. (2003). Imitation performance in toddlers with autism and those with other developmental disorders. Journal of Child Psychology and Psychiatry, and Allied Disciplines, 44, 763–781. doi:10.1111/1469-7610.00162
   PubMed Web of Science ®Google Scholar
• Rogers, S. J., Wehner, E. A., & Hagerman, R. (2001). The behavioral phenotype in fragile X: Symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders. Journal of Developmental & Behavioral Pediatrics, 22, 409–417. doi:10.1097/00004703-200112000-00008
   PubMed Web of Science ®Google Scholar
• Talisa, V. B., Boyle, L., Crafa, D., & Kaufmann, W. E. (2014). Autism and anxiety in males with fragile X syndrome: An exploratory analysis of neurobehavioral profiles from a parent survey. American Journal of Medical Genetics Part A, 164, 1198–1203. doi:10.1002/ajmg.a.36468
   Web of Science ®Google Scholar
• Thomas Johnson, V. A. (2008). Checklist assessments of FMR1 gene mutation phenotypes. Journal of Cultural Diversity, 15, 117–131.
   PubMedGoogle Scholar
• Urbanowicz, A., Downs, J., Girdler, S., Ciccone, N., & Leonard, H. (2015). Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome. American Journal of Medical Genetics Part A, 167, 354–362. doi:10.1002/ajmg.a.36871
   Web of Science ®Google Scholar
• Vuust, J., Larsen, L. A., Grønskov, K., Nørgaard-Pedersen, B., & Brøndum-Nielsen, K. (2006). Screening for fragilt X-syndrom. Internationale erfaringer [Screening for fragile X syndrome. International experiences]. Ugeskrift for Laeger, 168, 3704–3709. [In Danish]
   PubMedGoogle Scholar
• Yarrow, M. R., Campbell, J. D., & Burton, R. V. (1970). Recollections of childhood: A study of the retrospective method. Monographs of the Society for Research in Child Development, 35(5), 1–83. doi:10.2307/1165649
   PubMed Web of Science ®Google Scholar
• Yim, S.-Y., Jeon, B. H., Yang, J. A., & Kim, H. J. (2008). Fragile X syndrome in Korea: A case series and a review of the literature. Journal of Korean Medical Science, 23, 470–476. doi:10.3346/jkms.2008.23.3.470
   PubMed Web of Science ®Google Scholar
• Zingerevich, C., Greiss-Hess, L., Lemons-Chitwood, K., Harris, S. W., Hessl, D., Cook, K., & Hagerman, R. J. (2009). Motor abilities of children diagnosed with fragile X syndrome with and without autism. Journal of Intellectual Disability Research, 53, 11–18. doi:10.1111/j.1365-2788.2008.01107.x
   PubMed Web of Science ®Google Scholar
• Zwaigenbaum, L., Bryson, S., & Garon, N. (2013). Early identification of autism spectrum disorders. Behavioural Brain Research, 251, 133–146. doi:10.1016/j.bbr.2013.04.004
   PubMed Web of Science ®Google Scholar