Skip to main content
SpringerLink
Log in

Recommendations from Multi-disciplinary Focus Groups on Cascade Testing and Genetic Counseling for Fragile X-associated Disorders

  • Original Research
  • Published:
Journal of Genetic Counseling

Abstract

The purpose of this paper is to report the outcome of a collaborative project between the Fragile X Research and Treatment Center at the Medical Investigation of Neurodevelopmental Disorders (M.I.N.D.) Institute at the University of California at Davis, the National Fragile X Foundation (NFXF), and the Centers for Disease Control and Prevention (CDC). The objective of this collaboration was to develop and disseminate protocols for genetic counseling and cascade testing for the multiple disorders associated with the fragile X mental retardation 1 (FMR1) mutation. Over the last several years, there has been increasing insight into the phenotypic range associated with both the premutation and the full mutation of the FMR1 gene. To help develop recommendations related to screening for fragile X-associated disorders, four, two day advisory focus group meetings were conducted, each with a different theme. The four themes were: (1) fragile X-associated tremor/ataxia syndrome (FXTAS); (2) premature ovarian failure (POF) and reproductive endocrinology; (3) psychiatric, behavioral and psychological issues; and (4) population screening and related ethical issues.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • Anido, A., Carlson, L. M., & Sherman, S. L. (2007). Attitudes toward fragile X mutation carrier testing from women identified in a general population survey. Journal of Genetic Counseling, 16(1), 97–104.

    Article  PubMed  Google Scholar 

  • Anido, A., Carlson, L. M., Taft, L., & Sherman, S. L. (2005). Women’s attitudes toward testing for fragile X carrier status: A qualitative analysis. Journal of Genetic Counseling, 14(4), 295–306.

    Article  PubMed  Google Scholar 

  • Aziz, M., Stathopulu, E., Callias, M., Taylor, C., Turk, J., Oostra B., et al. (2003). Clinical features of boys with fragile X premutations and intermediate alleles. American Journal of Medical Genetics, 121B(1), 119–127.

    Article  PubMed  Google Scholar 

  • Bacalman, S., Farzin F., Bourgeois, J., Cogswell, J., Goodlin-Jones, B.,Gane, L. W., et al. (2006). Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: Newly described fronto-subcortical dementia. Journal of Clinical Psychiatry, 67(1), 87–94.

    Article  PubMed  Google Scholar 

  • Berry-Kravis, E., Potanos, K., Weinberg, D., Zhou, L. L., & Goetz, C. G. (2005). Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation. Annals of Neurology, 57(1), 144–147.

    Article  PubMed  CAS  Google Scholar 

  • Brunberg, J. A., Jacquemont, S., Hagerman R. J., Berry-Kravis, E., Grigsby, J., Leehey, M., et al. (2002). Fragile X premutation carriers: Characteristic MR imaging findings in adult males with progressive cerebellar and cognitive dysfunction. American Journal of Neuroradiology, 23(10), 1757–1766.

    PubMed  Google Scholar 

  • Chiu, S., Hessl, D., Day, J., et al. (2007). Genetic correlates of psychiatric comorbidity in fragile X syndrome. In M. Bax (Ed.), Comorbidities in genetic syndromes. London: MacKeith (in press).

    Google Scholar 

  • Cornish, K. M., Kogan, C., Turk, J., Manly, T., James, N., & Dalton, A. (2005). The emerging fragile X premutation phenotype: Evidence from the domain of social cognition. Brain and Cognition, 57(1), 53–60.

    Article  PubMed  Google Scholar 

  • Crawford, D. C., Meadows, K. L., Newman, J. L. , Taft, L. F., Scott, E., Leslie, M., et al. (2002). Prevalence of the fragile X syndrome in African–Americans. American Journal of Medical Genetics, 110(3), 226–233.

    Article  PubMed  Google Scholar 

  • de Vries, B. B., Wiegers, A. M., Smits, A. P., Mohkamsing, S., Duivenvoorden, H. J., Fryns, J. P., et al. (1996). Mental status of females with an FMR1 gene full mutation. American Journal of Medical Genetics, 58(5), 1025–1032.

    Google Scholar 

  • Dombrowski, C., Levesque, S., Morel, M. L., Rouillard, P., Morgan, K., & Rousseau, F. (2002). Premutation and intermediate-size FMR1 alleles in 10 572 males from the general population: Loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles. Human Molecular Genetics, 11(4), 371–378.

    Article  PubMed  CAS  Google Scholar 

  • Fanos, J. H., Spangner, K. A., & Musci, T. J. (2006). Attitudes toward prenatal screening and testing for Fragile X. Genetics in Medicine, 8(2), 129–133.

    Article  PubMed  Google Scholar 

  • Farzin, F., Perry, H., Hessl, D., Loesch, D., Cohen, J., Bacalman, S., et al. (2006). Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation. Journal of Developmental and Behavioral Pediatrics, 27(2 Suppl), S137–S144.

    Article  PubMed  Google Scholar 

  • Franke, P., Leboyer, M., Gansicke, M., Weiffenbach, O., Biancalana, V., Cornillet-Lefebre, P., et al. (1998). Genotype–phenotype relationship in female carriers of the premutation and full mutation of FMR-1. Psychiatry Research, 80(2), 113–127.

    Article  PubMed  CAS  Google Scholar 

  • Freund, L. S., Reiss, A. L., & Abrams, M. T. (1993). Psychiatric disorders associated with fragile X in the young female. Pediatrics, 91(2), 321–329.

    PubMed  CAS  Google Scholar 

  • Freund, L. S., Reiss, A. L., Hagerman, R. J., & Vinogradov, S. (1992). Chromosome fragility and psychopathology in obligate female carriers of the fragile X chromosome. Archives of General Psychiatry, 49(1), 54–60.

    PubMed  CAS  Google Scholar 

  • Goodlin-Jones, B., Tassone, F., & Gane, L. W. (2004). Autistic spectrum disorder and the fragile X premutation. Journal of Developmental and Behavioral Pediatrics, 25(6), 392–398.

    Article  PubMed  Google Scholar 

  • Hagerman, R. J. (2002). Physical and behavioral phenotype. In R. J. Hagerman, & P. J. Hagerman (Eds.), Fragile X syndrome: Diagnosis, treatment and research (3rd ed., pp. 3–109). Baltimore: The Johns Hopkins University Press.

    Google Scholar 

  • Hagerman, P. J., & Hagerman R. J. (2004a). The fragile-X premutation: a maturing perspective. American Journal of Human Genetics, 74(5), 805–816.

    Article  PubMed  CAS  Google Scholar 

  • Hagerman, P. J., & Hagerman, R. J. (2004b). Fragile X-associated tremor/ataxia Syndrome (FXTAS). Mental Retardation and Developmental Disabilities Research Reviews, 10(1), 25–30.

    Article  PubMed  Google Scholar 

  • Hagerman, R. J., Hills, J., Scharfenaker, S., et al. (1999). Fragile X syndrome and selective mutism. American Journal of Medical Genetics, 83, 313–317.

    Article  PubMed  CAS  Google Scholar 

  • Hagerman, R. J., Leavitt, B. R., Farzin, F., Jacquemont, S., Greco, C. M., Brunberg, J. A., et al. (2004). Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. American Journal of Human Genetics, 74(5), 1051–1056.

    Article  PubMed  CAS  Google Scholar 

  • Hagerman, R. J., Leehey, M., Heinrichs, W., Tassone, F., Wilson, R., Hills, J., et al. (2001). Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology, 57, 127–130.

    PubMed  CAS  Google Scholar 

  • Hall, D. A., Berry-Kravis, E., Jacquemont, S., Rice, C. D., Cogswell, J., Zhang, L., et al. (2005). Initial diagnoses given to persons with the fragile X associated tremor/ataxia Syndrome (FXTAS). Neurology, 65, 299–301.

    Article  PubMed  CAS  Google Scholar 

  • Hall, D. A., Hagerman, R. J., Hagerman, P. J., Jacquemont, S., & Leehey, M. A. (2006). Prevalence of FMR1 repeat expansions in movement disorders. A systematic review. Neuroepidemiology, 26, 151–155.

    Article  PubMed  CAS  Google Scholar 

  • Hatton, D., Sideris, J., Skinner, M., Mankowski, J., Bailey, D. B., Jr., Roberts, J., et al. (2006). Autistic behavior in children with fragile X syndrome: Prevalence, stability, and the impact of FMRP. American Journal of Medical Genetics. Part A, 140(17), 1804–1813.

    Article  PubMed  Google Scholar 

  • Hessl, D., Tassone, F., Loesch, D., Berry-Kravis, E., Leehey, M., Gane, L., et al. (2005). Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation. American Journal of Medical Genetics B: Neuropsychiatric Genetics, 139(1), 115–121.

    Article  CAS  Google Scholar 

  • Hundscheid, R. D., Braat, D. D., Kiemeney, L. A., Smits, A. P., & Thomas, C. M. (2001). Increased serum FSH in female fragile X premutation carriers with either regular menstrual cycles or on oral contraceptives. Human Reproduction, 16(3), 457–462.

    Article  PubMed  CAS  Google Scholar 

  • Jacquemont, S., Hagerman, R. J., Leehey, M., Grigsby, J., Zhang, L., Brunberg, J. A., et al. (2003). Fragile X premutation tremor/ataxia syndrome: Molecular, clinical, and neuroimaging correlates. American Journal of Human Genetics, 72, 869–878.

    Article  PubMed  CAS  Google Scholar 

  • Jacquemont, S., Hagerman, R. J., Leehey, M. A., Hall, D. A., Levine, R. A., Brunberg, J. A., et al. (2004). Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA, 291(4), 460–469.

    Article  PubMed  CAS  Google Scholar 

  • Jacquemont, S., Leehey, M. A., Hagerman, R. J., Beckett, L. A., & Hagerman P. J. (2006). Size bias of fragile X premutation alleles in late-onset movement disorders. Journal of Medical Genetics, 43, 804–809.

    Article  PubMed  CAS  Google Scholar 

  • Johnston, C., Eliez, S., Dyer-Friedman, J., Hessl, D., Glaser, B., Blasey, C., et al. (2001). Neurobehavioral phenotype in carriers of the fragile X premutation. American Journal of Medical Genetics, 103(4), 314–319.

    Article  PubMed  CAS  Google Scholar 

  • Kamm, C., Healy, D. G., Quinn, N. P., Wullner, U., Moller, J. C., Schols, L., et al. (2005). The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: Data from the EMSA Study Group. Brain, 128(Pt 8), 1855–1860.

    Article  PubMed  CAS  Google Scholar 

  • Kaufmann, W. E., Cortell, R., Kau, A. S., Bukelis, I., Tierney, E., Gray, R. M., et al. (2004). Autism spectrum disorder in fragile X syndrome: Communication, social interaction, and specific behaviors. American Journal of Medical Genetics, 129A(3), 225–234.

    Article  PubMed  Google Scholar 

  • Lachiewicz, A. M. (1992). Abnormal behaviors of young girls with fragile X syndrome. American Journal of Medical Genetics, 43(1–2), 72–77.

    Article  PubMed  CAS  Google Scholar 

  • Lachiewicz, A. (1995). Females with fragile X syndrome: A review of the effects of an abnormal gene. Mental Retardation and Developmental Disabilities Research Reviews, 1, 292–297.

    Article  Google Scholar 

  • Loesch, D. Z., Huggins, R. M., & Hagerman, R. J. (2004). Phenotypic variation and FMRP levels in fragile X. Mental Retardation and Developmental Disabilities Research Reviews, 10(1), 31–41.

    Article  PubMed  Google Scholar 

  • Maddalena, A., Richards, C. S., McGinniss, M. J., Brothman, A., Desnick, R. J., Grier, R. E., et al. (2001). Technical standards and guidelines for fragile X: The first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee of the Laboratory Practice Committee. Genetics in Medicine, 3(3), 200–205.

    Article  PubMed  CAS  Google Scholar 

  • Mazzocco, M. M., Kates, W. R., Baumgardner, T. L., Freund, L. S., & Reiss, A.L. (1997). Autistic behaviors among girls with fragile X syndrome. Journal of Autism and Developmental Disorders, 27(4), 415–435.

    Article  PubMed  CAS  Google Scholar 

  • McConkie-Rosell, A., Finucane, B. M., Cronister, A., Abrams, L., Bennett, R. L., & Pettersen, B. J. (2005). Genetic counseling for fragile X syndrome: Updated recommendations of the National Society of Genetic Counselors. Journal of Genetic Counseling, 14(4), 249–270.

    Article  PubMed  Google Scholar 

  • McConkie-Rosell, A., Spiridigliozzi, G. A., Iafolla, T., Tarleton, J., & Lachiewicz, A. M. (1997). Carrier testing in the fragile X syndrome: Attitudes and opinions of obligate carriers. American Journal of Medical Genetics, 68(1), 62–69.

    Article  PubMed  CAS  Google Scholar 

  • McConkie-Rosell, A., Spiridigliozzi, G. A., Sullivan, J. A., Dawson, D. V., & Lachiewicz, A. M. (2000). Carrier testing in fragile X syndrome: Effect on self-concept. American Journal of Medical Genetics, 92(5), 336–342.

    Article  PubMed  CAS  Google Scholar 

  • McConkie-Rosell, A., Spiridigliozzi, G. A., Sullivan, J. A., Dawson, D. V., & Lachiewicz, A. M. (2002). Carrier testing in fragile X syndrome: When to tell and test. American Journal of Medical Genetics, 110, 36–44.

    Article  PubMed  Google Scholar 

  • Morton, J. E., Bundey, S., Webb, T. P., MacDonald, F., Rindl, P. M., & Bullock, S. (1997). Fragile X syndrome is less common than previously estimated. Journal of Medical Genetics, 34(1), 1–5.

    Article  PubMed  CAS  Google Scholar 

  • Murray, J., Cuckle, H., Taylor, G., & Hewison, J. (1997). Screening for fragile X syndrome: Information needs for health planners. Journal of Medical Screening, 4, 60–94.

    PubMed  CAS  Google Scholar 

  • Murray, A., Webb, J., MacSwiney, F., Shipley, E., Morton, N., & Conway, G. (1999). Serum concentrations of follicle stimulating hormone may predict premature ovarian failure in FRAXA premutation women. Human Reproduction, 14, 1217–1218.

    Article  PubMed  CAS  Google Scholar 

  • Nolin, S. L., Brown, W. T., Glicksman, A., Houck, G. E., Jr., Gargano, A. D., Sullivan, A., et al. (2003). Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. American Journal of Human Genetics, 72, 454–464.

    Article  PubMed  CAS  Google Scholar 

  • Reiss, A. L., & Dant, C. C. (2003). The behavioral neurogenetics of fragile X syndrome: Analyzing gene-brain-behavior relationships in child developmental psychopathologies. Development and Psychopathology, 15(4), 927–968.

    Article  PubMed  Google Scholar 

  • Reiss, A. L., Freund, L., Abrams, M. T., Boehm, C., & Kazazian, H. (1993). Neurobehavioral effects of the fragile X premutation in adult women: A controlled study. American Journal of Human Genetics, 52(5), 884–894.

    PubMed  CAS  Google Scholar 

  • Ross, L. F. (2006). Screening for conditions that do not meet the Wilson and Jungner criteria: The case of Duchenne muscular dystrophy. American Journal of Medical Genetics A, 140(8), 914–922.

    Article  Google Scholar 

  • Rousseau, F., Rouillard, P., Morel, M. L., Khandjian, E. W., & Morgan, K. (1995). Prevalence of carriers of premutation-size alleles of the FMRI gene—And implications for the population genetics of the fragile X syndrome. American Journal of Human Genetics, 57(5), 1006–1018.

    PubMed  CAS  Google Scholar 

  • Sherman, S., Pletcher, B. A., & Driscoll, D. A. (2005). Fragile X syndrome: Diagnostic and carrier testing. Genetics in Medicine, 7(8), 584–587.

    Article  PubMed  Google Scholar 

  • Sobesky, W. E. (1996). The treatment of emotional and behavioral problems. In R. J. Hagerman, & A. Cronister (Eds.), Fragile X syndrome: Diagnosis, treatment, and research (2nd ed., pp. 332–348). Baltimore: The Johns Hopkins University Press.

    Google Scholar 

  • Sobesky, W. E., Taylor, A. K., Pennington, B. F., Bennetto, L., Porter, D., Riddle, J., et al. (1996). Molecular–clinical correlations in females with fragile X. American Journal of Medical Genetics, 64(2), 340–345.

    Article  PubMed  CAS  Google Scholar 

  • Sullivan, A. K., Marcus, M., Epstein, M. P. Allen, E. G., Anido, A. E., Paquin, J. J., et al. (2005). Association of FMR1 repeat size with ovarian dysfunction. Human Reproduction, 20(2), 402–412.

    Article  PubMed  CAS  Google Scholar 

  • Tassone, F., Hagerman, R. J., Gane, L. W., Taylor, A. K. (1999a). Strong similarities of the FMR1 mutation in multiple tissues: Postmortem studies of a male with the full mutation and a male carrier of a premutation. Journal of Medical Genetics, 84, 240–244.

    Article  CAS  Google Scholar 

  • Tassone, F., Hagerman, R. J., Ikle, D. N., Dyer, P. N., Lampe, M., Willemsen, R., et al. (1999b). FMRP expression as a potential prognostic indicator in fragile X syndrome. American Journal of Medical Genetics, 84(3), 250–261.

    Article  PubMed  CAS  Google Scholar 

  • Tassone, F., Hagerman, R. J., Taylor, A. K., Mills, J. B., Harris, S. W., Gane, L. W., et al. (2000). Clinical involvement and protein expression in individuals with the FMR1 premutation. American Journal of Medical Genetics, 91, 144–152.

    Article  PubMed  CAS  Google Scholar 

  • Turner, G., Webb, T., Wake, S., & Robinson, H. (1996). Prevalence of fragile X syndrome. American Journal of Medical Genetics, 64(1), 196–197.

    Article  PubMed  CAS  Google Scholar 

  • Van Dam, D., Errijgers, V., Kooy, F., Willemsen, R., Mientjes, E., Oostra, B., et al. (2005). Cognitive decline, neuromotor and behavioural disturbances in a mouse model for fragile-X-associated tremor/ataxia syndrome (FXTAS). Behavioral Brain Research, 162(2), 233–239.

    Article  CAS  Google Scholar 

  • Van Esch, H., Dom, R., Bex, D., Salden, I., Caeckebeke, J., Wibail, A., et al. (2005). Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia. European Journal of Human Genetics, 13(1), 121–123.

    Article  PubMed  CAS  Google Scholar 

  • Welt, C. K., Smith, P. C., & Taylor, A. E. (2004). Evidence of early ovarian aging in fragile X premutation carriers. Journal of Clinical Endocrinology and Metabolism, 89(9), 4569–4574.

    Article  PubMed  CAS  Google Scholar 

  • Wittenberger, M. D., Hagerman, R. J., Sherman, S. L., McConkie-Rosell, A, Welt, C. K., Rebar, R. W., et al. (2007). The FMR1 premutation and reproduction. Fertility and Sterility, 87(3), 456–465.

    Article  PubMed  CAS  Google Scholar 

  • Zuhlke, C., Budnik, A., Gehlken, U., Dalski, A., Purmann, S., Naumann, M., et al. (2004). FMR1 premutation as a rare cause of late onset ataxia—Evidence for FXTAS in female carriers. Journal de Neurologie, 251(11), 1418–1419.

    Article  Google Scholar 

Download references

Acknowledgement

This work was supported by the Centers for Disease Control and Prevention collaborative agreement #UIO/CCU 92513 and in part by the Intramural Research Program of the National Institutes of Health, Bethesda, Maryland, and the National Fragile X Foundation. The findings and conclusions in this report are those of the authors and do not necessarily represent the views of the Centers for Disease Control and Prevention.

Conflicts of Interest

Amy Cronister is an employee and stock holder of Genzyme Genetics, a for profit company that performs molecular diagnostic testing for fragile X syndrome.

Focus Group Participants

Interdisciplinary advisory focus group on fragile X-associated tremor/ataxia syndrome

Participants:

Liane Abrams MS, CGC, National Fragile X Foundation; Aimee Anido MS, CGC Emory University; Laurel Beckett PhD, UC Davis Department of Public Health Science; Elizabeth Berry-Kravis MD, PhD, Pediatrics Neurology, St. Luke’s Medical Center RUSH Presbyterian; Jim Bourgeois MD, UC Davis Department of Psychiatry and Behavioral Science; Jim Brunberg MD, UC Davis Department of Radiology; Sarah Coffey MPH, UC Davis M.I.N.D. Institute and Department of Pediatrics; Carolyn Constantin PhD, RN, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention; Brenda Finucane MS, CGC, Genetic Services, Elwyn Inc.; Louise Gane MS, UC Davis M.I.N.D. Institute; Claudia Greco MD, UC Davis Department of Pathology; Jim Grigsby PhD, Division of Health Care Policy and Research and Geriatric Medicine, University of Colorado Health Sciences Center; Randi Hagerman MD, UC Davis M.I.N.D. Institute and Department of Pediatrics; Paul Hagerman MD, PhD, UC Davis Department of Biochemisty and Molecular Medicine; Deborah Hall MD, Movement Disorders Section, University of Colorado Health Sciences Center; Sebastien Jacquemont MD, Service de Génétique, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland; Aileen Kenneson-Adams PhD, MS, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention; Janet Lin MD, Neurology Medical Group, Walnut Creek; Andreea Seritan MD, UC Davis Department of Psychiatry and Behavioral Science; Flora Tassone PhD, UC Davis Department of Biochemisty and Behavioral Science; Lin Zhang MD, PhD, UC Davis Department of Neurology; and a FXTAS patient of the UC Davis M.I.N.D. Institute.

Interdisciplinary advisory focus group on fragile X-associated premature ovarian failure

Participants:

Liane Abrams MS, CGC, National Fragile X Foundation; Emily Allen, Emory University; Aimee Anido MS, CGC Emory University; Sarah Coffey MPH, UC Davis M.I.N.D. Institute and Department of Pediatrics; Carolyn Constantin PhD, RN, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention; Amy Cronister MS, CGC, Genzyme Genetics; Louise Gane MS, UC Davis M.I.N.D. Institute; Randi Hagerman MD, M.I.N.D. Institute and Department of Pediatrics; Aileen Kenneson-Adams PhD, MS, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention; Allyn McConkie-Rosell PhD, CGC, Division of Medical Genetics, Duke University Medical Center; Lawrence Nelson MD, CDR USPHS, Gynecologic Endocrinology Unit, National Institute of Child Health and Human Development; Thomas Musci MD, Perinatology, California Pacific Medical Center; Lubna Pal MD, Department of Obstetrics and Gynecology and Women’s Health, Albert Einstein College of Medicine; Robert W. Rebar MD, Reproductive Endocrinology,Executive Director of the American Society for Reproductive Medicine; Stephanie Sherman PhD, Department of Human Genetics, School of Medicine, Emory University; Natalie Street MS, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention; Flora Tassone PhD, UC Davis Department of Biochemistry and Molecular Medicine; and a parent and premutation carrier.

Interdisciplinary advisory focus group on psychiatric and behavioral issues in individuals with FMR1 mutations

Participants:

Tom Anders MD, UC Davis M.I.N.D. Institute and Department of Psychiatry and Behavioral Science; James Bourgeois OD, MD, UC Davis Department of Psychiatry and Behavioral Science; Marcia Braden PhD; Sufen Chiu MD, PhD, Psychiatry, UC Davis M.I.N.D. Institute and Department of Psychiatry and Behavioral Science; Sarah Coffey MPH, UC Davis M.I.N.D. Institute and Department of Pediatrics; Brenda Finucane MS, CGC, Genetic Services, Elwyn Inc.; Louise Gane MS, UC Davis M.I.N.D. Institute; Beth Goodlin-Jones PhD, UC Davis M.I.N.D. Institute; Randi Hagerman MD, UC Davis M.I.N.D. Institute and Department of Pediatrics; Scott Hall PhD, Psychology, Stanford University School of Medicine; Robert Hendren DO, UC Davis M.I.N.D. Institute and Department of Psychiatry and Behavioral Science; David Hessl PhD, UC Davis M.I.N.D. Institute and Department of Psychiatry and Behavioral Science; Claudia Greco MD, UC Davis Department of Pathology; Robert Miller, Executive Director, National Fragile X Foundation; Karen Riley PhD, University of Denver Fisher Early Learning Center; Sally Rogers PhD, UC Davis MIND Institute and Department of Psychiatry and Behavioral Science; Andreea Seritan MD, UC Davis Medical Center Department of Psychiatry and Behavioral Science; Bhavik Shah MD, UC Los Angeles Neuropsychiatic Hospital; Tony Simon PhD, UC Davis M.I.N.D. Institute and Department of Psychiatry and Behavioral Science; Natalie Street MS, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention; Flora Tassone PhD, UC Davis Department of Biochemistry and Molecular Medicine.

Interdisciplinary advisory focus group on screening and ethics

Participants:

Don Bailey PhD, Health, Social, and Economics Research Unit, Research Triangle Institute; Coleen Boyle PhD, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention; Deby Burgess, North Carolina Fragile X Parent’s Group; Sarah Coffey MPH, UC Davis MIND Institute and Department of Pediatrics; Jonathan Cohen MD, Fragile X Alliance Clinic; Rashelle Cohen, Parent of fragile X patient, Australia; Amy Cronister MS, CGC, Genzyme Genetics; Arlene Davis RN, JD, Department of Social Medicine, University of North Carolina-Chapel Hill; Louise Gane MS, UC Davis M.I.N.D. Institute; Lainie Friedman Ross MD, PhD, Associate Director of MacLean Center for Clinical Medical Ethics, University of Chicago; Scott Grosse PhD, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention; Randi Hagerman MD, UC Davis M.I.N.D. Institute and Department of Pediatrics; Ave Lachiewicz MD, Fragile X Clinic, Departments of Pediatrics and Psychiatry and Behavioral Pediatrics, Duke University Medical Center; Allyn McConkie-Rosell PhD, CGC, Division of Medical Genetics, Duke University Medical Center; Robert Miller, Executive Director, National Fragile X Foundation; Thomas Musci MD, Perinatology, California Pacific Medical Center; Sally Nolin PhD, Department of Human Genetics, Institute of Basic Research; Cynthia Powell MD, Department of Pediatrics, University of North Carolina-Chapel Hill; Myra Roche MS, CGC, University of North Carolina-Chapel Hill; Meghan Shanahan, University of North Carolina at Chapel Hill; Stephanie Sherman PhD, Department of Human Genetics, School of Medicine, Emory University; Gail Spiridigliozzi PhD, Fragile X Clinic, Departments of Pediatrics, Duke University Medical Center; Debra Skinner, Department of Anthropology and Frank Porter Graham Child Development Institute, University of North Carolina-Chapel Hill; Flora Tassone PhD, UC Davis Department of Biochemistry and Molecular Medicine; Ajay Vatave MD, MPH, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention; Mary T. White, Ph.D., Department of Community Health, Director of the Division of Medical Humanities, Wright State University Boonshoft School of Medicine.

Author information

Authors and Affiliations

  1. Duke University Medical Center, Durham, NC, USA

    Allyn McConkie-Rosell

  2. National Fragile X Foundation, San Francisco, CA, USA

    Liane Abrams

  3. Elwyn, Inc, Elwyn, PA, USA

    Brenda Finucane

  4. Genzyme Genetics, Phoenix, AZ, USA

    Amy Cronister

  5. Department of Pediatrics, M.I.N.D. Institute, University of California at Davis Medical Center, Sacramento, CA, USA

    Louise W. Gane, Sarah M. Coffey & Randi J. Hagerman

  6. Department of Human Genetics, Emory University, Atlanta, GA, USA

    Stephanie Sherman

  7. Intramural Research Program, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA

    Lawrence M. Nelson

  8. Departments of Pediatrics, Neurology, Biochemistry, RUSH University Medical Center, Chicago, IL, USA

    Elizabeth Berry-Kravis

  9. Department of Psychiatry and Behavioral Sciences, M.I.N.D. Institute, University of California, Davis Medical Center, Sacramento, CA, USA

    David Hessl & Sufen Chiu

  10. National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA

    Natalie Street & Ajay Vatave

Authors
  1. Allyn McConkie-Rosell
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Liane Abrams
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Brenda Finucane
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Amy Cronister
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Louise W. Gane
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Sarah M. Coffey
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Stephanie Sherman
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Lawrence M. Nelson
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Elizabeth Berry-Kravis
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. David Hessl
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. Sufen Chiu
    View author publications

    You can also search for this author in PubMed Google Scholar

  12. Natalie Street
    View author publications

    You can also search for this author in PubMed Google Scholar

  13. Ajay Vatave
    View author publications

    You can also search for this author in PubMed Google Scholar

  14. Randi J. Hagerman
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Allyn McConkie-Rosell.

Rights and permissions

Reprints and permissions

About this article

Cite this article

McConkie-Rosell, A., Abrams, L., Finucane, B. et al. Recommendations from Multi-disciplinary Focus Groups on Cascade Testing and Genetic Counseling for Fragile X-associated Disorders. J Genet Counsel 16, 593–606 (2007). https://doi.org/10.1007/s10897-007-9099-y

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10897-007-9099-y

Keywords

Search

Navigation