Cited by 271Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder ResearchChild Nutrition and Feeding Issues

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Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment

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Kaufmann, Walter E., Kidd, Sharon A., Andrews, Howard F., Budimirovic, Dejan B., Esler, Amy, Haas-Givler, Barbara, Stackhouse, Tracy, Riley, Catharine, Peacock, Georgina, Sherman, Stephanie L., Brown, W. Ted, Berry-Kravis, Elizabeth·2017·PEDIATRICS

DOI 10.1542/peds.2016-1159fPMC PMC5619699

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Abstract

BACKGROUND AND OBJECTIVE: Individuals with fragile X syndrome (FXS) are frequently codiagnosed with autism spectrum disorder (ASD). Most of our current knowledge about ASD in FXS comes from family surveys and small studies. The objective of this study was to examine the impact of the ASD diagnosis in a large clinic-based FXS population to better inform the care of people with FXS. METHODS: The study employed a data set populated by data from individuals with FXS seen at specialty clinics across the country. The data were collected by clinicians at the patient visit and by parent report for nonclinical and behavioral outcomes from September 7, 2012 through August 31, 2014. Data analyses were performed by using χ2 tests for association, t tests, and multiple logistic regression to examine the association between clinical and other factors with ASD status. RESULTS: Half of the males and nearly 20% of females met Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition criteria for current ASD. Relative to the FXS-only group, the FXS with ASD (FXS+ASD) group had a higher prevalence of seizures (20.7% vs 7.6%, P < .001), persistence of sleep problems later in childhood, increased behavior problems, especially aggressive/disruptive behavior, and higher use of α-agonists and antipsychotics. Behavioral services, including applied behavior analysis, appeared to be underused in children with FXS+ASD (only 26% and 16% in prekindergarten and school-age periods, respectively) relative to other populations with idiopathic ASD. CONCLUSIONS: These findings confirm among individuals with FXS an association of an ASD diagnosis with important cooccurring conditions and identify gaps between expected and observed treatments among individuals with FXS+ASD.

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Diagnostic and Statistical Manual of Mental Disorders
American Psychiatric Association (2013) · doi:10.1176/appi.books.9780890425596 · Cited by 116,369
Diagnostic and Statistical Manual of Mental Disorders
Williams, J. B. W., & First, M. B. (2013) · Oxford University Press eBooks · doi:10.1093/acrefore/9780199975839.013.104 · Cited by 109,845
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
Verkerk, A. J. M. H., Pieretti, M., Sutcliffe, J. S., Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Reiner, O., Richards, S., Victoria, M. F., Zhang, F., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90397-h · Cited by 3,481
Global Prevalence of Autism and Other Pervasive Developmental Disorders
Elsabbagh, M., Divan, G., Koh, Y., Kim, Y. S., Kauchali, S., Marcín, C., Montiel‐Nava, C., Patel, V., Paula, C. S., Wang, C., et al. (2012) · Autism Research · doi:10.1002/aur.239 · Cited by 2,636
Untitled work
(1985) · PubMed · Cited by 1,427
Costs of Autism Spectrum Disorders in the United Kingdom and the United States
Buescher, A. V. S., Cidav, Z., Knapp, M., & Mandell, D. S. (2014) · JAMA Pediatrics · doi:10.1001/jamapediatrics.2014.210 · Cited by 1,296
The genetics of autism
Muhle, R., Trentacoste, S. V., & Rapin, I. (2004) · Pediatrics · doi:10.1542/peds.113.5.e472 · Cited by 1,207
Fragile X Genotype Characterized by an Unstable Region of DNA
Yu, S., Pritchard, M. A., Kremer, E. J., Lynch, M., Nancarrow, J. K., Baker, E. G., Holman, K., Mulley, J. C., Warren, S. T., Schlessinger, D., et al. (1991) · Science · doi:10.1126/science.252.5009.1179 · Cited by 793
FMR1 and the fragile X syndrome: Human genome epidemiology review
Crawford, D. C., Acuña, J. M., & Sherman, S. L. (2001) · Genetics in Medicine · doi:10.1097/00125817-200109000-00006 · Cited by 711
Internet survey of treatments used by parents of children with autism.
Green, V. A., Pituch, K. A., Itchon, J., Choi, A., O’Reilly, M., & Sigafoos, J. (2006) · Research in Developmental Disabilities · doi:10.1016/j.ridd.2004.12.002 · Cited by 617

Show all 72 references

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Hagerman, R. J., Berry-Kravis, E., Hazlett, H. C., Bailey, D. B., Moine, H., Kooy, R. F., Tassone, F., Gantois, I., Sonenberg, N., Mandel, J. L., et al. (2017) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2017.65 · Cited by 838
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Richter, J. D., & Zhao, X. (2021) · Nature Reviews Neuroscience · doi:10.1038/s41583-021-00432-0 · Cited by 390
A synaptic perspective of fragile X syndrome and autism spectrum Disorders.
Bagni, C., & Zukin, R. S. (2019) · Neuron · doi:10.1016/j.neuron.2019.02.041 · Cited by 326
Blood-brain barrier regulation in psychiatric disorders
Kealy, J., Greene, C., & Campbell, M. (2018) · Neuroscience Letters · doi:10.1016/j.neulet.2018.06.033 · Cited by 318
The neuropathology of autism: A systematic review of post-mortem studies of autism and related disorders
Fetit, R., Hillary, R. F., Price, D. J., & Lawrie, S. M. (2021) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2021.07.014 · Cited by 148
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Constantin, L., Poulsen, R. E., Scholz, L. A., Favre‐Bulle, I. A., Taylor, M. A., Sun, B., Goodhill, G. J., Vanwalleghem, G. C., & Scott, E. K. (2020) · BMC Biology · doi:10.1186/s12915-020-00857-6 · Cited by 145
Disruption of mTOR and MAPK pathways correlates with severity in idiopathic autism
Rosina, E., Battan, B., Siracusano, M., Criscio, L. D., Hollis, F., Pacini, L., Curatolo, P., & Bagni, C. (2019) · Translational Psychiatry · doi:10.1038/s41398-018-0335-z · Cited by 129
FMRP has a cell-type-specific role in CA1 pyramidal neurons to regulate autism-related transcripts and circadian memory
Sawicka, K., Hale, C. R., Park, C. Y., Fak, J. J., Gresack, J. E., Driesche, S. J. V., Kang, J. J., Darnell, J. C., & Darnell, R. B. (2019) · eLife · doi:10.7554/elife.46919 · Cited by 118
Dopaminergic Dysregulation in Syndromic Autism Spectrum Disorders: Insights From Genetic Mouse Models
Kosillo, P., & Bateup, H. S. (2021) · Frontiers in Neural Circuits · doi:10.3389/fncir.2021.700968 · Cited by 112
ERK/MAPK signaling and autism spectrum disorders
Vithayathil, J., Pucilowska, J., & Landreth, G. E. (2018) · Progress in brain research · doi:10.1016/bs.pbr.2018.09.008 · Cited by 104
Neurodevelopmental heterogeneity and computational approaches for understanding autism
Jacob, S., Wolff, J. J., Steinbach, M. S., Doyle, C. B., Kumar, V., & Elison, J. T. (2019) · Translational Psychiatry · doi:10.1038/s41398-019-0390-0 · Cited by 107
Fragile X Syndrome: From Molecular Aspect to Clinical Treatment
Protic, D. D., Aishworiya, R., Salcedo‐Arellano, M. J., Tang, S. J., Milisavljevic, J., Mitrovic, F., Hagerman, R. J., & Budimirovic, D. B. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23041935 · Cited by 103
Extreme enhancement or depletion of serotonin transporter function and serotonin availability in autism spectrum disorder
Garbarino, V. R., Gilman, T. L., Daws, L. C., & Gould, G. G. (2018) · Pharmacological Research · doi:10.1016/j.phrs.2018.07.010 · Cited by 85
A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments
Budimirovic, D. B., Schlageter, A. M., Filipovic-Sadic, S., Protic, D. D., Bram, E. E., Mahone, E. M., Nicholson, K., Culp, K., Javanmardi, K., Kemppainen, J., et al. (2020) · Brain Sciences · doi:10.3390/brainsci10100694 · Cited by 79
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Telias, M. (2019) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2019.00051 · Cited by 78
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Asiminas, A., Jackson, A. D., Louros, S. R., Till, S. M., Spano, T., Dando, O., Bear, M. F., Chattarji, S., Hardingham, G. E., Osterweil, E. K., et al. (2019) · Science Translational Medicine · doi:10.1126/scitranslmed.aao0498 · Cited by 78
Parallel social information processing circuits are differentially impacted in autism
Lewis, E. M., Stein-O’Brien, G. L., Patino, A. V., Nardou, R., Grossman, C. D., Brown, M., Bangamwabo, B., Ndiaye, N., Giovinazzo, D., Dardani, I., et al. (2020) · Neuron · doi:10.1016/j.neuron.2020.10.002 · Cited by 72
Identification of FMR1-regulated molecular networks in human neurodevelopmentPreprint
Li, M., Shin, J., Risgaard, R. D., Parries, M., Wang, J., Chasman, D. A., Liu, S., Roy, S., Bhattacharyya, A., & Zhao, X. (2020) · Genome Research · doi:10.1101/gr.251405.119 · Cited by 72
ASD Comorbidity in Fragile X Syndrome: Symptom Profile and Predictors of Symptom Severity in Adolescent and Young Adult Males
Abbeduto, L., Thurman, A. J., McDuffie, A. S., Klusek, J., Feigles, R. T., Brown, W. T., Harvey, D. J., Adayev, T., LaFauci, G., Dobkins, C., et al. (2018) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-018-3796-2 · Cited by 75
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Gupta, C., Chandrashekar, P. B., Jin, T., He, C., Khullar, S., Chang, Q., & Wang, D. (2022) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-022-09438-w · Cited by 66
Postnatal developmental trajectory of dopamine receptor 1 and 2 expression in cortical and striatal brain regions
Cullity, E. R., Madsen, H. B., Perry, C. J., & Kim, J. H. (2018) · The Journal of Comparative Neurology · doi:10.1002/cne.24574 · Cited by 59
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Fyke, W., & Velinov, M. T. (2021) · Genes · doi:10.3390/genes12081218 · Cited by 60
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Zablah, Y. B., Zhang, H., Gugustea, R., & Jia, Z. (2021) · Cells · doi:10.3390/cells10082079 · Cited by 58
Neurogenetic disorders across the lifespan: from aberrant development to degeneration
Hickman, R. A., O’Shea, S. A., Mehler, M. F., & Chung, W. K. (2022) · Nature Reviews Neurology · doi:10.1038/s41582-021-00595-5 · Cited by 59
Fragile X syndrome and fragile X-associated disorders
Rajaratnam, A., Shergill, J., Salcedo‐Arellano, M. J., Saldarriaga, W., Duan, X., & Hagerman, R. J. (2017) · F1000Research · doi:10.12688/f1000research.11885.1 · Cited by 53
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Roberts, J. E., Bradshaw, J. L., Will, E., Hogan, A. L., McQuillin, S. D., & Hills, K. J. (2020) · Development and Psychopathology · doi:10.1017/s0954579420000942 · Cited by 54
Sleep problems in Fragile X syndrome: Cross-sectional analysis of a large clinic-based cohort
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Sleep as a translationally-relevant endpoint in studies of autism spectrum disorder (ASD)
Missig, G., McDougle, C. J., & Carlezon, W. A. (2019) · Neuropsychopharmacology · doi:10.1038/s41386-019-0409-5 · Cited by 49
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Hill, M. N., Haney, M., Hillard, C. J., Karhson, D. S., & Vecchiarelli, H. A. (2023) · Psychological Medicine · doi:10.1017/s0033291723002465 · Cited by 42
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Kalinowska, M., van der Lei, M. B., Kitiashvili, M., Mamcarz, M., Oliveira, M. M., Longo, F., & Klann, E. (2021) · Molecular Autism · doi:10.1186/s13229-022-00509-2 · Cited by 39
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Kidd, S. A., Berry‐Kravis, E., Choo, T. H., Chen, C., Esler, A., Hoffmann, A., Andrews, H., & Kaufmann, W. E. (2019) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-019-04148-0 · Cited by 41
The Application of Adeno-Associated Viral Vector Gene Therapy to the Treatment of Fragile X Syndrome
Hampson, D. R., Hooper, A. W. M., & Niibori, Y. (2019) · Brain Sciences · doi:10.3390/brainsci9020032 · Cited by 38
Pharmacologic Interventions for Irritability, Aggression, Agitation and Self-Injurious Behavior in Fragile X Syndrome: An Initial Cross-Sectional Analysis
Eckert, E. M., Dominick, K. C., Pedapati, E. V., Wink, L. K., Shaffer, R. C., Andrews, H., Choo, T.-H. J., Chen, C., Kaufmann, W. E., Tartaglia, N. R., et al. (2019) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-019-04173-z · Cited by 36
Autism spectrum disorder in females with fragile X syndrome: a systematic review and meta-analysis of prevalence
Marlborough, M. A., Welham, A., Jones, C., Reckless, S., & Moss, J. F. (2021) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-021-09362-5 · Cited by 46
EEG as a translational biomarker and outcome measure in fragile X syndrome
Kenny, A., Wright, D., & Stanfield, A. C. (2022) · Translational Psychiatry · doi:10.1038/s41398-022-01796-2 · Cited by 36
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Cregenzán-Royo, O., Gasca, C. B. I., & Fornieles-Deu, A. (2022) · Genes · doi:10.3390/genes13020280 · Cited by 35
Clinical Development of Targeted Fragile X Syndrome Treatments: An Industry Perspective
Lee, A. W., Ventola, P. E., Budimirovic, D. B., Berry‐Kravis, E., & Visootsak, J. (2018) · Brain Sciences · doi:10.3390/brainsci8120214 · Cited by 34
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McKnight, D., Bristow, S. L., Truty, R., Morales, A., Stetler, M., Westbrook, M. J., Robinson, K., Riethmaier, D., Borlot, F., Kellogg, M. A., et al. (2022) · PubMed Central · doi:10.1212/nxg.0000000000000650 · Cited by 32
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Remmerden, M. C. V., Hoogland, L. M. P., Mous, S. E., Dierckx, B., Coesmans, M., Moll, H. A., Lubbers, K., Lincken, C. R., & van Eeghen, A. M. (2019) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-019-03973-7 · Cited by 26
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Armstrong, J. L., Casey, A. B., Saraf, T. S., Mukherjee, M., Booth, R. G., & Canal, C. E. (2020) · ACS Pharmacology & Translational Science · doi:10.1021/acsptsci.9b00101 · Cited by 26
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Lázaro‐Muñoz, G., Sabatello, M., Huckins, L. M., Peay, H. L., Degenhardt, F., Meiser, B., Lencz, T., Soda, T., Docherty, A. R., Crepaz‐Keay, D., et al. (2019) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32736 · Cited by 26
Cell-type-specific disruption of cortico-striatal circuitry drives repetitive patterns of behavior in fragile X syndrome model mice
Longo, F., Aryal, S., Anastasiades, P. G., Maltese, M., Baimel, C., Albanese, F., Tabor, J., Zhu, J. D., Oliveira, M. M., Gastaldo, D., et al. (2023) · Cell Reports · doi:10.1016/j.celrep.2023.112901 · Cited by 25
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Protic, D. D., & Hagerman, R. J. (2024) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.15885 · Cited by 25
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Westmark, P. R., Gutierrez, A., Gholston, A. K., Wilmer, T. M., & Westmark, C. J. (2020) · Neurochemistry International · doi:10.1016/j.neuint.2020.104687 · Cited by 27
The Phenotypic Profile Associated With the FMR1 Premutation in Women: An Investigation of Clinical-Behavioral, Social-Cognitive, and Executive Abilities
Maltman, N., Guilfoyle, J. L., Nayar, K., Martin, G. E., Winston, M., Lau, J. C. Y., Bush, L., Patel, S. P., Lee, M., Sideris, J. H., et al. (2021) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2021.718485 · Cited by 25
Structural and biochemical alterations in dendritic spines as key mechanisms for severe mental illnesses
Reyes-Lizaola, S., Luna-Zarate, U., Tendilla‐Beltrán, H., Morales‐Medina, J. C., & Flores, G. (2023) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2023.110876 · Cited by 26
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Berry‐Kravis, E. (2022) · Journal of Child Neurology · doi:10.1177/08830738221089740 · Cited by 19
Reduced serum levels of pro-inflammatory chemokines in fragile X syndrome
Dijck, A. V., Barbosa, S., Bermudez-Martin, P., Khalfallah, O., Gilet, C., Martinuzzi, E., Elinck, E., Kooy, R. F., Glaichenhaus, N., & Davidovic, L. (2020) · BMC Neurology · doi:10.1186/s12883-020-01715-2 · Cited by 18
The Use of “Retardation” in FRAXA, FMRP, FMR1 and Other Designations
Herring, J., Johnson, K., & Richstein, J. (2022) · Cells · doi:10.3390/cells11061044 · Cited by 18
Height and BMI in fragile X syndrome: A longitudinal assessment
Choo, T.-H. J., Xu, Q., Budimirovic, D. B., Lozano, R., Esler, A., Frye, R. E., Andrews, H., & Velinov, M. T. (2022) · Obesity · doi:10.1002/oby.23368 · Cited by 19
Cerebral organoids as an in vitro model to study autism spectrum disorders
Rabeling, A., & Goolam, M. (2022) · Gene Therapy · doi:10.1038/s41434-022-00356-z · Cited by 17
Behavioral and Psychiatric Disorders in Syndromic Autism
Genovese, A., & Butler, M. G. (2024) · Brain Sciences · doi:10.3390/brainsci14040343 · Cited by 22
FMRP ribonucleoprotein complexes and RNA homeostasis
Suardi, G. A. M., & Haddad, L. A. (2020) · Advances in genetics · doi:10.1016/bs.adgen.2020.01.001 · Cited by 18
Review of Autism Profiles and Response to Sertraline in Fragile X Syndrome-Associated Autism vs. Non-syndromic Autism; Next Steps for Targeted Treatment
Rajaratnam, A., Potter, L. A., Biag, H. M. B., Schneider, A., Petrasic, I. C., & Hagerman, R. J. (2020) · Frontiers in Neurology · doi:10.3389/fneur.2020.581429 · Cited by 17
Evidence for a Contribution of the Nlgn3/Cyfip1/Fmr1 Pathway in the Pathophysiology of Autism Spectrum Disorders
Śledziowska, M., Galloway, J., & Baudouin, S. J. (2019) · Neuroscience · doi:10.1016/j.neuroscience.2019.10.011 · Cited by 16
Impact of Genetic and Genomic Testing on the Clinical Management of Patients with Autism Spectrum Disorder
Stafford, C. F., & Sanchez-Lara, P. A. (2022) · Genes · doi:10.3390/genes13040585 · Cited by 16
Spontaneous motor-behavior abnormalities in two Drosophila models of neurodevelopmental disorders
Andrew, D. R., Moe, M. E., Chen, D., Tello, J. A., Doser, R. L., Conner, W. E., GHUMAN, J. K., & Restifo, L. L. (2020) · Journal of Neurogenetics · doi:10.1080/01677063.2020.1833005 · Cited by 16
Not All Autism Genes Are Created Equal: A Response to Myers et al.
Buxbaum, J. D., Cutler, D. J., Daly, M. J., Devlin, B., Roeder, K., & Sanders, S. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.09.013 · Cited by 16
Autism spectrum disorder in the fragile X premutation state: possible mechanisms and implications
Aishworiya, R., Protic, D. D., & Hagerman, R. J. (2022) · Journal of Neurology · doi:10.1007/s00415-022-11209-5 · Cited by 15
DNA Methylation at Birth Predicts Intellectual Functioning and Autism Features in Children with Fragile X Syndrome
Kraan, C. M., Baker, E. K., Arpone, M., Bui, M., Ling, L., Gamage, D., Bretherton, L., Rogers, C., Field, M. J., Wotton, T., et al. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21207735 · Cited by 15
The regulatory role of endoplasmic reticulum chaperone proteins in neurodevelopment
Sun, H., Wu, M., Wang, M., Zhang, X., & Zhu, J. Z. (2022) · Frontiers in Neuroscience · doi:10.3389/fnins.2022.1032607 · Cited by 14
Latent Class Analysis Identifies Distinctive Behavioral Subtypes in Children with Fragile X Syndrome
Kaufmann, W. E., Raspa, M., Bann, C., Gable, J. M., Harris, H. K., Budimirovic, D. B., Lozano, R., Berry‐Kravis, E., Velinov, M. T., Talboy, A. L., et al. (2022) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-022-05821-7 · Cited by 14
Phenotypic variability to medication management: an update on fragile X syndrome
Elhawary, N. A., AlJahdali, I. A., Abumansour, I. S., Azher, Z. A., Falemban, A. H., Madani, W. M., Alosaimi, W., Alghamdi, G., & Sindi, I. A. (2023) · Human Genomics · doi:10.1186/s40246-023-00507-2 · Cited by 15
Fragile X syndrome in children
Acero-Garcés, D. O., Saldarriaga, W., Cabal-Herrera, A. M., Cerón, C. A. R., & Hagerman, R. J. (2023) · Colombia medica · doi:10.25100/cm.v54i2.5089 · Cited by 16
Sensory Symptoms and Signs of Hyperarousal in Individuals with Fragile X Syndrome: Findings from the FORWARD Registry and Database Multisite Study
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The early life exposome and autism risk: a role for the maternal microbiome?
Gesù, C. M. D., & Buffington, S. A. (2024) · Gut Microbes · doi:10.1080/19490976.2024.2385117 · Cited by 16
Language Performance in Preschool-Aged Boys with Nonsyndromic Autism Spectrum Disorder or Fragile X Syndrome
Thurman, A. J., & Álvarez, C. E. H. (2019) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-019-03919-z · Cited by 14
Parental Reports on Early Autism Behaviors in Their Children with Fragile X Syndrome as a Function of Infant Feeding
Westmark, C. J. (2021) · Nutrients · doi:10.3390/nu13082888 · Cited by 14
Cooperative Parent-Mediated Therapy in Children with Fragile X Syndrome and Williams Beuren Syndrome: A Pilot RCT Study of a Transdiagnostic Intervention-Preliminary Data
Alfieri, P., Scibelli, F., Casula, L., Piga, S., Napoli, E., Valeri, G., & Vicari, S. (2021) · Brain Sciences · doi:10.3390/brainsci12010008 · Cited by 14
Behavioral Problems in Fragile X Syndrome: A Review of Clinical Management
Davidson, M., Sebastian, S. A., Benitez, Y., Desai, S., Quinonez, J., Ruxmohan, S., Stein, J. D., & Cueva, W. (2022) · Cureus · doi:10.7759/cureus.21840 · Cited by 14
Dysregulation of the mTOR-FMRP pathway and synaptic plasticity in an environmental model of ASD
Hilal, M. L., Rosina, E., Pedini, G., Restivo, L., & Bagni, C. (2025) · Molecular Psychiatry · doi:10.1038/s41380-024-02805-0 · Cited by 13
A novel eye‐tracking paradigm for indexing social avoidance‐related behavior in fragile X syndrome
Klusek, J., Moser, C., Schmidt, J., Abbeduto, L., & Roberts, J. E. (2019) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32757 · Cited by 15
Evaluation of lorcaserin as an anticonvulsant in juvenile Fmr1 knockout mice
Saraf, T. S., Felsing, D. E., Armstrong, J. L., Booth, R. G., & Canal, C. E. (2021) · Epilepsy Research · doi:10.1016/j.eplepsyres.2021.106677 · Cited by 14
Dysregulated Ca2+-Permeable AMPA Receptor Signaling in Neural Progenitors Modeling Fragile X Syndrome
Danesi, C., KEINÄNEN, K. P., & Castrén, M. L. (2019) · Frontiers in Synaptic Neuroscience · doi:10.3389/fnsyn.2019.00002 · Cited by 12
Compensatory Regulation of Excitation/Inhibition Balance in the Ventral Hippocampus: Insights from Fragile X Syndrome
Papatheodoropoulos, C. (2025) · Biology · doi:10.3390/biology14040363 · Cited by 15
Impaired Attention Orienting in Young Children With Fragile X Syndrome
Chernenok, M., Burris, J. L., Owen, E. R., & Rivera, S. M. (2019) · Frontiers in Psychology · doi:10.3389/fpsyg.2019.01567 · Cited by 12

Authors: Kaufmann, W. E., Kidd, S. A., Andrews, H. F., Budimirovic, D. B., Esler, A., Haas-Givler, B., Stackhouse, T., Riley, C., Peacock, G., Sherman, S. L., Brown, W. T., & Berry-Kravis, E.
Affiliations: Boston Children's Hospital (US)
National Fragile X Foundation (US)
Columbia University (US)
Kennedy Krieger Institute (US)
University of Minnesota (US)
Geisinger Health System, Lewisburg, Pennsylvania;
Developmental FX, Denver, Colorado;
Centers for Disease Control and Prevention (US)
Emory University (US)
New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York; and
Departments of Pediatrics, Neurological Sciences, and Biochemistry, Rush University Medical Center, Chicago, Illinois
Corresponding author: Kaufmann, Walter E.
ORCID: Kaufmann, Walter E.
Kidd, Sharon A.
Andrews, Howard F.
Budimirovic, Dejan B.
Esler, Amy
Stackhouse, Tracy
Riley, Catharine
Peacock, Georgina
Sherman, Stephanie L.
Venue: PEDIATRICS
Publisher: American Academy of Pediatrics (AAP)
Published: 2017-06-01
Volume: 139
Issue: Supplement_3
Pages: S194-S206
ISSN: 0031-4005 (ISSN-L)
1098-4275
DOI: 10.1542/peds.2016-1159f
PMC: PMC5619699
OpenAlex: W2620588197
Cited by: 268
References: 72
Citations by year: 2026: 19 · 2025: 26 · 2024: 35 · 2023: 37 · 2022: 49 · 2021: 40 · 2020: 25 · 2019: 25 · 2018: 10 · 2017: 2
FWCI: 11.25
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Locations: PEDIATRICS (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Funders: National Fragile X Foundation
National Institutes of Health (CC999999)
Centers for Disease Control and Prevention (U01DD000231, U01DD001189, U19DD000753)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (U54HD090255)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
Health Sciences › Medicine › Psychiatry and Mental health › Child Nutrition and Feeding Issues
Keywords: fragile X syndrome, autism spectrum disorder, comorbidities, seizures, sleep disorders, aggression, disruptive behavior, alpha-adrenergic agonists, antipsychotic drugs, applied behavior analysis, treatment gap, sex differences
MeSH terms: Autism Spectrum Disorder, Applied Behavior Analysis, Adolescent, Adrenergic alpha-Agonists, Adult, Child, Child Behavior Disorders, Child, Preschool, Combined Modality Therapy, Female, Fragile X Syndrome, Humans, Infant, Longitudinal Studies, Male, Registries, Antipsychotic Agents, Comorbidity, Diagnostic and Statistical Manual of Mental Disorders

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Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment

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