Adaptive, behavioral, and cognitive outcomes in individuals with fragile X syndrome with varying autism severity.
CYFIP1 mRNA
FMRP
MMP9
autism
fragile X syndrome
Journal
International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
ISSN: 1873-474X
Titre abrégé: Int J Dev Neurosci
Pays: United States
ID NLM: 8401784
Informations de publication
Date de publication:
Dec 2023
Dec 2023
Historique:
revised:
06
08
2023
received:
13
01
2023
accepted:
31
08
2023
medline:
5
12
2023
pubmed:
19
9
2023
entrez:
19
9
2023
Statut:
ppublish
Résumé
This study aimed to determine the association between severity of autism spectrum disorder (ASD) and cognitive, behavioral, and molecular measures in individuals with fragile X syndrome (FXS). Study inclusion criteria included individuals with FXS and (1) age 6-40 years, (2) full-scale IQ < 84, and (3) language ≥3-word phrases. ASD symptom severity was determined by Autism Diagnostic Observation Schedule-2 (ADOS-2). Other measures identified non-verbal IQ, adaptive skills, and aberrant behaviors. Molecular measures included blood FMR1 and CYFIP1 mRNA levels, FMRP and MMP9 levels. Analysis of variance (ANOVA) and Spearman's correlations were used to compare ASD severity groups. Data from 54 individuals was included with no/mild (N = 7), moderate (N = 18), and severe (N = 29) ASD. Individuals with high ASD severity had lower adaptive behavior scores (47.48 ± 17.49) than the no/mild group (69.00 ± 20.45, p = 0.0366); they also had more challenging behaviors, lethargy, and stereotypic behaviors. CYFIP1 mRNA expression levels positively correlated with the ADOS-2 comparison score(r
Substances chimiques
RNA, Messenger
0
FMR1 protein, human
0
Fragile X Mental Retardation Protein
139135-51-6
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
715-727Subventions
Organisme : NICHD NIH HHS
ID : P50 HD103526
Pays : United States
Organisme : NICHD NIH HHS
ID : P50 HD103526
Pays : United States
Informations de copyright
© 2023 The Authors. International Journal of Developmental Neuroscience published by John Wiley & Sons Ltd on behalf of International Society for Developmental Neuroscience.
Références
Abbeduto, L., Berry-Kravis, E., Sterling, A., Sherman, S., Edgin, J. O., McDuffie, A., Hoffmann, A., Hamilton, D., Nelson, M., Aschkenasy, J., & Thurman, A. J. (2020). Expressive language sampling as a source of outcome measures for treatment studies in fragile X syndrome: Feasibility, practice effects, test-retest reliability, and construct validity. Journal of Neurodevelopmental Disorders, 12(1), 10. https://doi.org/10.1186/s11689-020-09313-6
Abekhoukh, S., & Bardoni, B. (2014). CYFIP family proteins between autism and intellectual disability: Links with fragile X syndrome. Frontiers in Cellular Neuroscience, 8, 81. https://doi.org/10.3389/fncel.2014.00081
Aishworiya, R., Protic, D., & Hagerman, R. (2022). Autism spectrum disorder in the fragile X premutation state: Possible mechanisms and implications. Journal of Neurology, 269(9), 4676-4683. https://doi.org/10.1007/s00415-022-11209-5
Bagni, C., Tassone, F., Neri, G., & Hagerman, R. (2012). Fragile X syndrome: Causes, diagnosis, mechanisms, and therapeutics. Journal of Clinical Investigation, 122(12), 4314-4322. https://doi.org/10.1172/JCI63141
Bagni, C., & Zukin, R. S. (2019). A synaptic perspective of fragile X syndrome and autism spectrum disorders. Neuron, 101(6), 1070-1088. https://doi.org/10.1016/j.neuron.2019.02.041
Berry-Kravis, E., Doll, E., Sterling, A., Kover, S. T., Schroeder, S. M., Mathur, S., & Abbeduto, L. (2013). Development of an expressive language sampling procedure in fragile X syndrome: A pilot study. Journal of Developmental & Behavioral Pediatrics, 34(4), 245-251. https://doi.org/10.1097/DBP.0b013e31828742fc
Budimirovic, D., Haas-Givler, B., Blitz, R., Esler, A., Kaufmann, W., Sudhalter, V., Stackhouse, T., Scharfenaker, S., & Berry-Kravis, E. (2014). Autism spectrum disorder in fragile X syndrome. https://fragilex.org/wp-content/uploads/2012/08/Autism-Spectrum-Disorder-in-Fragile-X-Syndrome-2014-Nov.pdf. Published 2014 (updated 2020). Accessed May 18., 2021.
Conover, W. J. (1999). Practical nonparametric statistics. John Wiley & Sons.
Domínguez-Iturza, N., Lo, A. C., Shah, D., Armendáriz, M., Vannelli, A., Mercaldo, V., Trusel, M., Li, K. W., Gastaldo, D., Santos, A. R., Callaerts-Vegh, Z., D’Hooge, R., Mameli, M., van der Linden, A., Smit, A. B., Achsel, T., & Bagni, C. (2019). The autism-and schizophrenia-associated protein CYFIP1 regulates bilateral brain connectivity and behaviour. Nature Communications, 10(1), 3454. https://doi.org/10.1038/s41467-019-11203-y
Dow, D., Holbrook, A., Toolan, C., McDonald, N., Sterrett, K., Rosen, N., Kim, S. H., & Lord, C. (2021). The brief observation of symptoms of autism (BOSA): Development of a new adapted assessment measure for remote telehealth administration through COVID-19 and beyond. Journal of Autism and Developmental Disorders, 52(12), 5383-5394.
Dow, D., Holbrook, A., Toolan, C., McDonald, N., Sterrett, K., Rosen, N., Kim, S. H., & Lord, C. (2022). The brief observation of symptoms of autism (BOSA): Development of a new adapted assessment measure for remote telehealth administration through COVID-19 and beyond. Journal of Autism and Developmental Disorders, 52, 5383-5394. https://doi.org/10.1007/s10803-021-05395-w
Esbensen, A. J., Rojahn, J., Aman, M. G., & Ruedrich, S. (2003). Reliability and validity of an assessment instrument for anxiety, depression, and mood among individuals with mental retardation. Journal of Autism and Developmental Disorders, 33(6), 617-629. https://doi.org/10.1023/B:JADD.0000005999.27178.55
Filipovic-Sadic, S., Sah, S., Chen, L., Krosting, J., Sekinger, E., Zhang, W., Hagerman, P. J., Stenzel, T. T., Hadd, A. G., Latham, G. J., & Tassone, F. (2010). A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome. Clinical Chemistry, 56(3), 399-408. https://doi.org/10.1373/clinchem.2009.136101
Hagerman, R. J. H., & Hagerman, P. J. (2020). Fragile X syndrome and premutation disorders. Mac Keith Press.
Hall, C. L., Guo, B., Valentine, A. Z., Groom, M. J., Daley, D., Sayal, K., & Hollis, C. (2020). The validity of the SNAP-IV in children displaying ADHD symptoms. Assessment, 27(6), 1258-1271. https://doi.org/10.1177/1073191119842255
Handa, V., Goldwater, D., Stiles, D., Cam, M., Poy, G., Kumari, D., & Usdin, K. (2005). Long CGG-repeat tracts are toxic to human cells: Implications for carriers of fragile X premutation alleles. FEBS Letters, 579(12), 2702-2708. https://doi.org/10.1016/j.febslet.2005.04.004
Hunter, J., Rivero-Arias, O., Angelov, A., Kim, E., Fotheringham, I., & Leal, J. (2014). Epidemiology of fragile X syndrome: A systematic review and meta-analysis. American Journal of Medical Genetics Part A, 164A, 1648-1658. https://doi.org/10.1002/ajmg.a.36511
Ingason, A., Kirov, G., Giegling, I., Hansen, T., Isles, A. R., Jakobsen, K. D., Kristinsson, K. T., le Roux, L., Gustafsson, O., Craddock, N., Möller, H. J., McQuillin, A., Muglia, P., Cichon, S., Rietschel, M., Ophoff, R. A., Djurovic, S., Andreassen, O. A., Pietiläinen, O. P. H., … Werge, T. (2011). Maternally derived microduplications at 15q11-q13: Implication of imprinted genes in psychotic illness. The American Journal of Psychiatry, 168(4), 408-417. https://doi.org/10.1176/appi.ajp.2010.09111660
Iossifov, I., Ronemus, M., Levy, D., Wang, Z., Hakker, I., Rosenbaum, J., Yamrom, B., Lee, Y. H., Narzisi, G., Leotta, A., Kendall, J., Grabowska, E., Ma, B., Marks, S., Rodgers, L., Stepansky, A., Troge, J., Andrews, P., Bekritsky, M., … Wigler, M. (2012). De novo gene disruptions in children on the autistic spectrum. Neuron, 74(2), 285-299. https://doi.org/10.1016/j.neuron.2012.04.009
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. (2017). Autism Spectrum disorder in fragile X syndrome: Cooccurring conditions and current treatment. Pediatrics, 139(Suppl 3), S194-s206. https://doi.org/10.1542/peds.2016-1159F
Kim, K., Hessl, D., Randol, J. L., Espinal, G. M., Schneider, A., Protic, D., Aydin, E. Y., Hagerman, R. J., & Hagerman, P. J. (2019). Association between IQ and FMR1 protein (FMRP) across the spectrum of CGG repeat expansions. PLoS ONE, 14(12), e0226811. https://doi.org/10.1371/journal.pone.0226811
Klusek, J., Martin, G. E., & Losh, M. (2014). Consistency between research and clinical diagnoses of autism among boys and girls with fragile X syndrome. Journal of Intellectual Disability Research, 58(10), 940-952. https://doi.org/10.1111/jir.12121
Lord, C., Rutter, M., DiLavore, P., et al. (2012). Autism Diagnostic Observation Schedule Second Edition (ADOS-2) manual (part 1): Modules 1-4. Western Psychological Services.
Martin, G. E., Roberts, J. E., Helm-Estabrooks, N., Sideris, J., Vanderbilt, J., & Moskowitz, L. (2012). Perseveration in the connected speech of boys with fragile X syndrome with and without autism spectrum disorder. American Journal on Intellectual and Developmental Disabilities, 117(5), 384-399. https://doi.org/10.1352/1944-7558-117.5.384
Napoli, I., Mercaldo, V., Boyl, P. P., Eleuteri, B., Zalfa, F., de Rubeis, S., di Marino, D., Mohr, E., Massimi, M., Falconi, M., Witke, W., Costa-Mattioli, M., Sonenberg, N., Achsel, T., & Bagni, C. (2008). The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP. Cell, 134(6), 1042-1054. https://doi.org/10.1016/j.cell.2008.07.031
Niu, M., Han, Y., Dy, A. B. C., Du, J., et al. (2017). Autism symptoms in fragile X syndrome. Journal of Child Neurology, 32(10), 903-909. https://doi.org/10.1177/0883073817712875
Noroozi, R., Omrani, M. D., Sayad, A., Taheri, M., & Ghafouri-Fard, S. (2018). Cytoplasmic FMRP interacting protein 1/2 (CYFIP1/2) expression analysis in autism. Metabolic Brain Disease, 33, 1353-1358. https://doi.org/10.1007/s11011-018-0249-8
Nowicki, S. T., Tassone, F., Ono, M. Y., Ferranti, J., Croquette, M. F., Goodlin-Jones, B., & Hagerman, R. J. (2007). The Prader-Willi phenotype of fragile X syndrome. Journal of Developmental & Behavioral Pediatrics, 28(2), 133-138. https://doi.org/10.1097/01.DBP.0000267563.18952.c9
Oakes, A., Thurman, A. J., McDuffie, A., Bullard, L. M., Hagerman, R. J., & Abbeduto, L. (2016). Characterising repetitive behaviours in young boys with fragile X syndrome. Journal of Intellectual Disability Research, 60(1), 54-67. https://doi.org/10.1111/jir.12234
Owens, J. A., Spirito, A., & McGuinn, M. (2000). The Children's Sleep Habits Questionnaire (CSHQ): Psychometric properties of a survey instrument for school-aged children. Sleep, 23(8), 1043-1051. https://doi.org/10.1093/sleep/23.8.1d
Raspa, M., Franco, V., Bishop, E., Wheeler, A. C., Wylie, A., & Bailey, D. B. Jr. (2018). A comparison of functional academic and daily living skills in males with fragile X syndrome with and without autism. Research in Developmental Disabilities, 78, 1-14. https://doi.org/10.1016/j.ridd.2018.04.024
Roid, G. H., & Koch, C. (2017). Leiter-3: Nonverbal cognitive and neuropsychological assessment.
Romagnoli, A., & Di Marino, D. (2021). The use of peptides in the treatment of fragile X syndrome: Challenges and opportunities. Frontiers in Psychiatry, 12, 754485. https://doi.org/10.3389/fpsyt.2021.754485
Saldarriaga, W., Tassone, F., Gonzalez-Teshima, L. Y., Forero-Forero, J. V., Ayala-Zapata, S., & Hagerman, R. (2014). Fragile X syndrome. Colombia Medica, 45(4), 190-198. https://doi.org/10.25100/cm.v45i4.1810
Sansone, S. M., Widaman, K. F., Hall, S. S., Reiss, A. L., Lightbody, A., Kaufmann, W. E., Berry-Kravis, E., Lachiewicz, A., Brown, E. C., & Hessl, D. (2012). Psychometric study of the Aberrant Behavior Checklist in fragile X syndrome and implications for targeted treatment. Journal of Autism and Developmental Disorders, 42(7), 1377-1392. https://doi.org/10.1007/s10803-011-1370-2
Skinner, M., Hooper, S., Hatton, D. D., Roberts, J., Mirrett, P., Schaaf, J., Sullivan, K., Wheeler, A., & Bailey, D. B. Jr. (2005). Mapping nonverbal IQ in young boys with fragile X syndrome. American Journal of Medical Genetics Part A, 132a, 25-32. https://doi.org/10.1002/ajmg.a.30353
Sparrow, S., Cicchetti, D., & Balla, D. (2005). Vineland adaptive behavior scales: (Vineland II), survey interview form/caregiver rating form. Pearson Assessments.
Tassone, F., Hagerman, R. J., Iklé, D. N., et al. (1999). FMRP expression as a potential prognostic indicator in fragile X syndrome. American Journal of Medical Genetics, 84(3), 250-261. https://doi.org/10.1002/(SICI)1096-8628(19990528)84:3<250::AID-AJMG17>3.0.CO;2-4
Tassone, F., Hagerman, R. J., Taylor, A. K., Gane, L. W., Godfrey, T. E., & Hagerman, P. J. (2000). Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in the fragile-X syndrome. American Journal of Human Genetics, 66(1), 6-15. https://doi.org/10.1086/302720
Tassone, F., Pan, R., Amiri, K., Taylor, A. K., & Hagerman, P. J. (2008). A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations. The Journal of Molecular Diagnostics, 10(1), 43-49. https://doi.org/10.2353/jmoldx.2008.070073
Thurman, A. J., & Hoyos Alvarez, C. (2020). Language performance in preschool-aged boys with nonsyndromic autism Spectrum disorder or fragile X syndrome. Journal of Autism and Developmental Disorders, 50(5), 1621-1638. https://doi.org/10.1007/s10803-019-03919-z
Thurman, A. J., McDuffie, A., Hagerman, R. J., Josol, C. K., & Abbeduto, L. (2017). Language skills of males with fragile X syndrome or nonsyndromic autism spectrum disorder. Journal of Autism and Developmental Disorders, 47(3), 728-743. https://doi.org/10.1007/s10803-016-3003-2
Thurman, A. J., McDuffie, A., Kover, S. T., Hagerman, R. J., & Abbeduto, L. (2015). Autism symptomatology in boys with fragile X syndrome: A cross sectional developmental trajectories comparison with nonsyndromic autism spectrum disorder. Journal of Autism and Developmental Disorders, 45(9), 2816-2832. https://doi.org/10.1007/s10803-015-2443-4
Varni, J. W., Seid, M., & Rode, C. A. (1999). The PedsQL™: Measurement model for the pediatric quality of life inventory. Medical Care, 37, 126-139. https://doi.org/10.1097/00005650-199902000-00003
Wolff, J. J., Bodfish, J. W., Hazlett, H. C., Lightbody, A. A., Reiss, A. L., & Piven, J. (2012). Evidence of a distinct behavioral phenotype in young boys with fragile X syndrome and autism. Journal of the American Academy of Child and Adolescent Psychiatry, 51(12), 1324-1332. https://doi.org/10.1016/j.jaac.2012.09.001