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2018 National Fragile X Conference, Cincinnati, Ohio

The Fragile X Registry team will have an exhibit table at the conference. If you plan to attend, please stop by and say hello. There is an exciting conference agenda planned. Several of our research partners are presenting. We look forward to hearing results from their studies.
Information here https://fragilex.org/nfxf-international-conference/

Research Briefs

2018 Fragile X Registry Newsletter

Contains updates on past and current studies and two new studies

Infant Brain Development in FXS

UNC School of Medicine researchers used MRIs and computer models to show that babies with fragile X syndrome show signs of brain differences by six months of age.

Lighting up the search for a therapy for fragile X syndrome.

By Meng Li et al., Waisman Center, University of Wisconsin

Child and Genetic Variables Associated with Maternal Adaptation to Fragile X Syndrome

By Donald Bailey, Robert Golden, Jane Roberts, and Amy Ford

Psychological Well-Being and Coping in Mothers of Youths with Autism, Down Syndrome, or Fragile X Syndrome

By Leonard Abbeduto, Marsha Mailick Seltzer, Paul Shattuck, Marty Wyngaarden Krauss, Gael Orsmond, and Melissa M. Murphy

Study on Family Adaptation to Fragile X Syndrome: Report 1

By Marsha Mailick Seltzer, Leonard Abbeduto, and Jan S. Greenberg

Study on Family Adaptation to Fragile X Syndrome: Report 2

Report 2: Daily Experiences and Biological Markers of Stress in Mothers of Adolescents and Adults with Fragile X Syndrome; By Marsha Mailick Seltzer, Leonard Abbeduto, and Jan S. Greenberg

Brain Changes Associated with FX Take Place Before Age Two

By Fumiko Hoeft, John Carter, Amy Lightbody, Heather Cody Hazlett, Joseph Piven, and Allan L. Reiss

Social Approach and Autistic Behavior in Children with FXS

By Jane Roberts, Leigh Anne Weisenfield, Deborah Hatton, Morgan Heath, and Walter Kaufmann

Trajectories and Predictors of the Development of Very Young Boys with FXS

By Jane Roberts, Jean Mankowski, John Sideris, Barbara Davis Goldman, Deborah Hatton, Penny Mirrett, Grace Baranek, J. Steve Reznick, Anna Long, and Donald Bailey

Mood and Anxiety Disorders in Females with the FMR1 Premutation

By Jane E. Roberts, Donald Bailey, Jean Mankowski, Amy Ford, John Sideris, Leigh Anne Weisenfield, T. Morgan Heath, and Robert N. Golden

FX Registry Enrollment Update

282 children
709 adults
608 families
50 states

Selected Fragile X Publications

Click a category to see publications.

Behavior and Early Development

McDuffie A, Abbeduto L, Lewis P, Kim JS, Kover ST, Weber A, Brown WT. A characterization of autism spectrum disorder in children and adolescents with fragile X syndrome: Within-syndrome differences and developmental changes. American Journal on Intellectual and Developmental Disabilities. Forthcoming 2010.

Hatton DD, Wheeler A, Sideris J, Sullivan K, Reichardt A, Roberts JE, Clark R, Bailey DB. Developmental trajectories of young girls with fragile X syndrome. American Journal of Mental Retardation. 2009; 114(3): 161-171.

Roberts JE, Bailey DB, Mankowski J, Ford AF, Weisenfeld LA, Heath M, Golden RN. Mood and anxiety disorders in females with the FMR1 premutation. American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics. 2009 Jan; 150B (1):130-9.

Roberts JE, Mankowski J, Hatton DD, Baranek GT, Mirrett PL, Reznick JS, Long AC, Bailey DB. Trajectories and predictors of the development of very young boys with fragile X syndrome.Journal of Pediatric Psychology. 2009; 4: 827-36.

Abbeduto L, Murphy MM, Kover ST, Giles ND, Karadottir S, Amman A, Nollin KA. Signaling noncomprehension of language: A comparison of fragile X syndrome and Down syndrome . American Journal on Mental Retardation. 2008; 113(3): 214-230.

Baranek GT, Roberts JE, David FJ, Sideris J, Mirrett PL, Hatton DD, Bailey DB. Developmental trajectories and correlates of sensory processing functions in young children with fragile X syndrome. Physical and Occupational Therapy in Pediatrics. 2008; 28(1): 79-98.

Shanahan M, Roberts JE, Hatton DD, Reznick JS, Goldsmith H. Early temperament and negative reactivity in boys with fragile X syndrome. Journal of Intellectual Disability Research. 2008; 52: 842-854.

Murphy M, Abbeduto L, Schroeder S, Serlin R. Contribution of social and information-processing factors to eye-gaze avoidance in fragile X syndrome. American Journal on Mental Retardation . 2007; 112(5): 349-360.

Roberts JE, Weisenfeld LA, Hatton DD, Heath M, Kaufmann WE. Social approach and autistic behavior in children with fragile X syndrome. Journal of Autism and Developmental Disorder. 2007; 37(9): 1748-1760.


Cellular/Molecular Neuroscience

Malter JS, Ray BC, Westmark PR, Westmark CJ. Fragile X syndrome and Alzheimer's disease: Another story about APP and beta-amyloid. Current Alzheimer Research. Forthcoming 2010.

Westmark CJ, Westmark PR, Malter JS. Alzheimer's disease and Down syndrome rodent models exhibit audiogenic seizures. Journal of Alzheimer's Disease. Forthcoming 2010.

Westmark CJ, Westmark PR, Malter JS. MPEP reduces seizure severity in Fmr-1 KO mice over expressing human Ab. International Journal of Clinical and Experimental Pathology. 2009; 3: 56-68.

Westmark CJ, Malter JS. Translating memories: The role of protein biosynthesis in synaptic plasticity. In: Esterhouse TE, Petrinos LB, editors. Protein Biosynthesis. Hauppauge (NY): Nova; 2009. p. 195-223.

Kelley DJ, Bhattacharyya A, Lahvis G, Yin JCP, Malter JS, Davidson RJ. The cyclic AMP phenotype of fragile X and autism. Neuroscience & Biobehavioral Reviews. 2008; 32(8): 1533-43.

Kelley DJ, Davidson RJ, Elliot J, Lahvis G, Yin JCP, Bhattacharyya A. The cyclic AMP cascade is altered in the fragile X nervous system. PLoS One. 2007; 2(9): e931.


Family

Bailey DB, Sideris J, Roberts JE, Hatton DD. Child and genetic variables associated with maternal adaptation to fragile X syndrome: A multidimensional analysis. American Journal of Medical Genetics, Part A. 2008; 146(6): 720-729.

Bailey DB, Golden RN, Roberts JE, Ford AF. Maternal depression and developmental disability: Research critique. Mental Retardation Developmental Disabilities Research Review. 2007; 13(4): 321-329.

Esbensen AJ, Seltzer MM, Abbeduto L. Family well-being in Down syndrome and fragile X syndrome. In: Roberts JE, Chapman R, Warren S, editors. Speech and language development and intervention in Down syndrome and fragile X syndrome. Baltimore (MD): Brookes; 2007. p. 275-295.

Head L, Abbeduto L. Recognizing the role of parents in developmental outcomes: A systems approach to evaluating the child with developmental disabilities . Mental Retardation and Developmental Disabilities Research Reviews. 2007; 13(4): 293-301.

Lewis P, Abbeduto L, Murphy MM, Richmond EK, Giles N, Bruno L, Schroeder S, Anderson JA, Orsmond G. Psychological well-being and stress in mothers of youth with fragile X syndrome: Syndrome specificity and within-syndrome variability. Journal of Intellectual Disability Research. 2006; 50: 894-904.

Abbeduto L, Seltzer MM, Shattuck P, Krauss MW, Orsmond G, Murphy MM. Psychological well-being and coping in mothers of youths with autism, Down syndrome, or fragile X syndrome. American Journal of Mental Retardation. 2004; 109: 237-254.


Language Development

Abbeduto L, Brady N, Kover ST. Language development and fragile X syndrome: Profiles, syndrome-specificity, and within-syndrome differences. Mental Retardation and Developmental Disabilities Research Reviews. 2007; 3: 36-46.

Abbeduto L, McDuffie A. Language learning and use as embedded social activities: Evidence from autism and fragile X syndrome. In: Paul R, editor. Language disorders from a developmental perspective: Essays in honor of Robin S. Chapman. Mahwah (NJ): Lawrence Erlbaum Associates Publishers; 2007. p 195-214.

Murphy M, Abbeduto L. Gender differences in repetitive language in fragile X syndrome. Journal of Intellectual Disability Research. 2007; 51 (5): 387-400.

Robert J, Martin G, Moskowitz L, Harris A, Foreman J, Nelson L. Discourse skills of boys with fragile X syndrome in comparison to boys with Down syndrome. Journal of Speech, Language & Hearing Research. 2007; 50(2): 475-492.

Barnes E, Roberts J, Mirrett P, Sideris J, Misenheimer J. A comparison of oral structure and oral-motor function in young males with fragile X syndrome and Down syndrome. Journal of Speech, Language & Hearing Research. 2006; 49(4): 903-917.


Neurobiology

Hoeft F, Carter JC, Lightbody AA, Cody Hazlett H, Piven J, Reiss AL. Region-specific alterations in

brain development in one- to three- year old boys with fragile X syndrome. Proceedings of the National Academy of Sciences. 2010; 107(20): 9335-9339.

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