Consistency between research and clinical diagnoses of autism among boys and girls with fragile X syndrome
Open accessAbstract
Background: Prior research suggests that 60–74% of males and 16–45% of females with fragile X syndrome (FXS) meet criteria for autism spectrum disorder (ASD) in research settings. However, relatively little is known about the rates of clinical diagnoses in FXS and whether such diagnoses are consistent with those performed in a research setting using gold standard diagnostic tools. Method: This study explored whether boys and girls with FXS met criteria for ASD in a research setting using the A utism D iagnostic O bservation S chedule (ADOS) and the A utism D iagnostic I nterview‐R evised (ADI‐R), and then compared these data with the frequency of parent‐reported clinical diagnoses. We also examined child and family characteristics as potential diagnostic predictors across settings. Participants included 35 females and 51 males with FXS (mean age: 10 years), who were from Eastern and Midwestern regions of the USA. Results: About half of the children met criteria for ASD on either the ADOS or ADI‐R, with ASD occurring three times more frequently in males than females (∼75% vs. ∼25%). In contrast, ∼25% of participants of both genders had received a clinical diagnosis of ASD. While cognitive and language skills predicted diagnostic outcome on the ADOS and ADI‐R, these skills did not predict clinical diagnoses. Executive functions predicted clinical diagnoses, but not diagnoses per the ADOS or ADI‐R. Conclusions: ASD in FXS may be under‐diagnosed in clinical/educational settings, which raises questions regarding access to ASD‐related services.
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FXS is the most common syndromic form of ASD, with an estimated 25-50% of children with FXS meeting criteria for ASD.
“Fragile X syndrome (FXS) is the most common syndromic form of ASD, with an estimated 25–50% of children diagnosed with FXS meeting the criteria for ASD (Klusek et al. 2014).”
From Dysfunctional Autism Risk Genes Cause Circuit-Specific Connectivity Deficits With Distinct Developmental Trajectories (2018) · cites this paper as Klusek et al. 2014
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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 38 · see citing works
Martin, G. E., Barstein, J., Hornickel, J., Matherly, S., Durante, G., & Losh, M. C. (2017) · Journal of Communication Disorders · doi:10.1016/j.jcomdis.2017.01.003 · Cited by 37 · see citing works
Self-citationMarlborough, 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 35 · see citing works
“[46] reported significant differences in prevalence rates derived from the ADI-R and the ADOS, with 14.”
MethodResultHaebig, E., & Sterling, A. M. (2016) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-016-2921-3 · Cited by 28 · see citing works
A Unifying Theory for Autism: The Pathogenetic Triad as a Theoretical Framework
Sarovic, D. (2021) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2021.767075 · Cited by 26 · see citing works
“Cognitive ability correlates negatively with the number of ALTs being expressed (101, 107), the severity of autism (108), psychotherapy response (109, 110), good outcome (111–115), compensatory ability (116, 117), aspects of social cognition (118), as well as risk of diagnosis (101, 119) and comorbidities (120), illus…”
BackgroundReading and Phonological Skills in Boys with Fragile X Syndrome
Klusek, J., Hunt, A. W., Mirrett, P., Hatton, D. D., Hooper, S. R., Roberts, J. E., & Bailey, D. B. (2014) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-014-2328-y · Cited by 24 · see citing works
“Sixty to seventy-four percent of boys with FXS exhibit sufficient behaviors to meet diagnostic criteria for ASD (Klusek et al., 2014; Garcia-Nonell, 2008).”
Self-citationSterling, A. M. (2018) · Journal of Speech Language and Hearing Research · doi:10.1044/2017_jslhr-l-17-0248 · Cited by 24 · see citing works
Will, E., Bishop, S. L., & Roberts, J. E. (2019) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-019-9281-1 · Cited by 24 · see citing works
Delineating Repetitive Behavior Profiles across the Lifespan in Fragile X Syndrome
Reisinger, D. L., Shaffer, R. C., Tartaglia, N. R., Berry‐Kravis, E., & Erickson, C. A. (2020) · Brain Sciences · doi:10.3390/brainsci10040239 · Cited by 23 · see citing works
Assistive technology to promote occupation and reduce mouthing by three boys with fragile X syndrome
Stasolla, F., Perilli, V., Damiani, R., & Albano, V. (2016) · Developmental Neurorehabilitation · doi:10.3109/17518423.2015.1133724 · Cited by 23 · see citing works
“ered within the severe to profound range of intellectual and developmental disabilities from clinical observations.(38,39) They presented lack of speech (except for some vocalization”
BackgroundFielding-Gebhardt, H., Warren, S. F., & Brady, N. C. (2019) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-019-04308-2 · Cited by 23 · see citing works
Synaptic vesicle dynamic changes in a model of fragile X
Broek, J. A. C., Lin, Z., de Gruiter, H. M., Spijker, H. M. V. ‘., Haasdijk, E. D., Cox, D., Özcan, S., van Cappellen, G. W. A., Houtsmuller, A. B., Willemsen, R., et al. (2016) · Molecular Autism · doi:10.1186/s13229-016-0080-1 · Cited by 22 · see citing works
“identified to suffer from FXS [4, 5].”
Hughes, K. R., Hogan, A. L., Roberts, J. E., & Klusek, J. (2019) · Journal of Speech Language and Hearing Research · doi:10.1044/2019_jslhr-l-17-0491 · Cited by 20 · see citing works
“…language performance in FXS are often more impaired than would be expected relative to cognitive ability and are exacerbated by the presence of ASD symptoms and comorbidity (Abbeduto et al., 2008; Klusek et al., 2014a; Losh, Martin, Klusek, Hogan-Brown, & Sideris, 2012; Roberts et al., 2007).”
BackgroundSelf-citationWall, C. A., Hogan, A. L., Will, E., McQuillin, S. D., Kelleher, B., & Roberts, J. E. (2019) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-019-9284-y · Cited by 20 · see citing works
Usher, L. V., DaWalt, L. S., Hong, J., Greenberg, J. S., & Seltzer, M. M. (2020) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-020-04367-w · Cited by 18 · see citing works
Hilvert, E., Sterling, A. M., Haebig, E., & Friedman, L. (2020) · Autism & Developmental Language Impairments · doi:10.1177/2396941520912118 · Cited by 18 · see citing works
“…of language, differences in expressive language are often even more pronounced for boys with FXSþASD, who tend to have greater pragmatic deficits (Klusek et al., 2014b; Losh et al., 2012; Martin et al., 2013, 2017), speech that is less intelligible (Kover & Abbeduto, 2010), and language that is…”
BackgroundMethodResultInfluentialThe use of demonstratives and personal pronouns in fragile X syndrome and autism spectrum disorder
Friedman, L., Lorang, E. K., & Sterling, A. M. (2018) · Clinical Linguistics & Phonetics · doi:10.1080/02699206.2018.1536727 · Cited by 17 · see citing works
Barstein, J., Martin, G. E., Lee, M., & Losh, M. C. (2018) · Journal of Speech Language and Hearing Research · doi:10.1044/2018_jslhr-l-17-0064 · Cited by 17 · see citing works
“On the basis of reports of elevated rates of pragmatic language impairments in ASD-O and FXS-ASD (Klusek, Martin, & Losh, 2013; Klusek et al., 2014a; Losh et al., 2012a; Martin, Losh, Estigarribia, Sideris, & Roberts, 2013), we predicted that individuals with ASD (FXS-ASD and ASD-O) would produce…”
BackgroundResultInfluentialSelf-citationFriedman, L., Sterling, A. M., & Barton-Hulsey, A. (2018) · Developmental Neurorehabilitation · doi:10.1080/17518423.2018.1424264 · Cited by 16 · see citing works
“Males with FXS have language impairments and a high comorbidity with autism spectrum disorder (ASD) with recent rates at 27–75%, depending on the diagnostic measures.(1,2) The behavioral phenotype is similar in FXS and idiopathic ASD, and includes deficits in pragmatics.”
BackgroundEarly gesture use in fragile X syndrome
Rague, L., Caravella, K. E., Tonnsen, B. L., Klusek, J., & Roberts, J. E. (2018) · Journal of Intellectual Disability Research · doi:10.1111/jir.12498 · Cited by 17 · see citing works
“…also a hallmark feature of young children with autism spectrum disorder (ASD), a neurodevelopmental disorder characterised by social communication impairments and repetitive behaviours (APA 2013) that occurs in approximately 50–67% of boys with FXS (García-Nonell et al. 2008; Klusek et al. 2014b).”
Self-citationKlusek, J., Thurman, A. J., & Abbeduto, L. (2021) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-021-04980-3 · Cited by 15 · see citing works
“FXS is a single-gene disorder that shows significant behavioral overlap with ASD, with about 50% of children with FXS meeting diagnostic criteria for ASD (Abbeduto et al., 2019; Harris et al., 2008; Klusek, Martin, & Losh, 2014b).”
BackgroundSelf-citationDistributional Cues to Language Learning in Children With Intellectual Disabilities
Kover, S. T. (2018) · Language Speech and Hearing Services in Schools · doi:10.1044/2018_lshss-stlt1-17-0128 · Cited by 15 · see citing works
Motor Influences on Communication: Comparisons Between Down Syndrome and Fragile X Syndrome
Will, E., & Roberts, J. E. (2021) · American Journal on Intellectual and Developmental Disabilities · doi:10.1352/1944-7558-126.6.460 · Cited by 14 · see citing works
Rates and predictors of co-occurring autism spectrum disorder in boys with fragile X syndrome
Haebig, E., Sterling, A. M., Barton-Hulsey, A., & Friedman, L. (2020) · Autism & Developmental Language Impairments · doi:10.1177/2396941520905328 · Cited by 14 · see citing works
“Klusek et al. (2014b) compared clinical versus research ASD diagnostic classifications in children with FXS. Specifically, they examined parentreported clinical diagnoses and compared them to a classification determined by a research-administered assessment of ASD severity (i.e. the Autism…”
BackgroundMethodResultInfluentialNeuroanatomical Profile of Young Females with Fragile X Syndrome: A Voxel-Based Morphometry Analysis
Lee, C. H.-Y., Bartholomay, K. L., Marzelli, M., Miller, J. G., Bruno, J. L., Lightbody, A. A., & Reiss, A. L. (2021) · Cerebral Cortex · doi:10.1093/cercor/bhab319 · Cited by 14 · see citing works
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 13 · see citing works
Self-citationGuy, J., Ng‐Cordell, E., Doherty, B. R., Duta, M. D., & Scerif, G. (2020) · Research in Developmental Disabilities · doi:10.1016/j.ridd.2020.103693 · Cited by 13 · see citing works
Martin, G. E., Lee, M., & Losh, M. C. (2017) · Perspectives in pragmatics, psychology & philosophy · doi:10.1007/978-3-319-47489-2_5 · Cited by 13 · see citing works
“…identified single-gene condition associated with autism spectrum disorder (ASD), with about 40%-75% of males with FXS meeting criteria for ASD in a research setting (Clifford et al. 2007; Hall et al. 2008; Kaufmann et al. 2004; Klusek et al. 2014a; Philofsky et al. 2004; Rogers et al. 2001).”
BackgroundMethodResultInfluentialSelf-citationThurman, A. J., McDuffie, A. S., Kover, S. T., Hagerman, R. J., Channell, M. M., Mastergeorge, A. M., & Abbeduto, L. (2014) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-014-2260-1 · Cited by 12 · see citing works
“Although a number of similarities have been observed between the FXS and nonsyndromic ASD phenotypes (e.g., Klusek et al. 2014; Philofsky et al. 2004; Roberts et al. 2001), there is a growing body of research documenting important differences in the manifestations and correlates of ASD in FXS…”
Longitudinal analysis of communication repair skills across three neurodevelopmental disabilities
Martin, G. E., Barstein, J., Patel, S. P., Lee, M., Henry, L., & Losh, M. C. (2019) · International Journal of Language & Communication Disorders · doi:10.1111/1460-6984.12500 · Cited by 12 · see citing works
Self-citationAttention/Deficit Hyperactivity Disorder in Adolescent and Young Adult Males With Fragile X Syndrome
Klusek, J., O’Connor, S. L., Hickey, A. C., Hills, K. J., Abbeduto, L., & Roberts, J. E. (2022) · American Journal on Intellectual and Developmental Disabilities · doi:10.1352/1944-7558-127.3.213 · Cited by 11 · see citing works
Self-citationWhat can Neuropsychology Teach Us About Intellectual Disability?
Lee, N. R., Maiman, M., & Godfrey, M. (2016) · International review of research in developmental disabilities · doi:10.1016/bs.irrdd.2016.07.002 · Cited by 12 · see citing works
Early Predictors of Later Expressive Language in Boys With Fragile X Syndrome
Fielding-Gebhardt, H., & Warren, S. F. (2019) · American Journal on Intellectual and Developmental Disabilities · doi:10.1352/1944-7558-124.1.11 · Cited by 11 · see citing works
Fragile‐X syndrome – a 20‐year follow‐up study of male patients
Arvio, M. (2015) · Clinical Genetics · doi:10.1111/cge.12639 · Cited by 11 · see citing works
“Some reports describe the lowering of IQ during childhood (23).”
BackgroundMartin, G. E., Lee, M., Bicknell, K., Goodkind, A., Maltman, N., & Losh, M. C. (2023) · Frontiers in Neurology · doi:10.3389/fneur.2023.1155691 · Cited by 10 · see citing works
“Only males were included in this study due to the lower incidence of ASD in females (43), and given evidence that females with FXS are less affected than males overall, and specifically show lower incidence of co-morbid ASD (9, 31, 44) because of the protective nature of an additional X chromosome [e.”
BackgroundSelf-citationReisinger, D. L., & Roberts, J. E. (2017) · American Journal on Intellectual and Developmental Disabilities · doi:10.1352/1944-7558-122.5.359 · Cited by 10 · see citing works
Hus, Y. (2017) · Folia Phoniatrica et Logopaedica · doi:10.1159/000477398 · Cited by 10 · see citing works
Lorang, E. K., & Sterling, A. M. (2017) · Autism & Developmental Language Impairments · doi:10.1177/2396941517745673 · Cited by 10 · see citing works
“In females, studies report rates from 11% to 45% (Hall et al., 2008; Klusek et al., 2014; Wheeler et al., 2015).”
BackgroundHilvert, E., & Sterling, A. M. (2019) · International review of research in developmental disabilities · doi:10.1016/bs.irrdd.2019.07.003 · Cited by 10 · see citing works
Klusek, J., Will, E., Moser, C., Hills, K. J., Thurman, A. J., Abbeduto, L., & Roberts, J. E. (2023) · Research on Child and Adolescent Psychopathology · doi:10.1007/s10802-023-01044-1 · Cited by 9 · see citing works
Self-citationAishworiya, R., Tak, Y., Ponzini, M., Biag, H., Salcedo-Arellano, M., Kim, K., Tassone, F., Schneider, A., Thurman, A., Abbeduto, L., et al. (2023) · International Journal of Developmental Neuroscience · doi:10.1002/jdn.10299 · Cited by 7 · see citing works
“A co-occurring diagnosis of ASD is common in FXS and more common in males than females (Budimirovic et al., 2014; Klusek et al., 2014).”
BackgroundReading in Children With Fragile X Syndrome: Phonological Awareness and Feasibility of Intervention
Adlof, S. M., Klusek, J., Hoffmann, A., Chitwood, K. L., Brazendale, A. B., Riley, K., Abbeduto, L., & Roberts, J. E. (2018) · American Journal on Intellectual and Developmental Disabilities · doi:10.1352/1944-7558-123.3.193 · Cited by 9 · see citing works
Self-citationBush, L. C., Martin, G. E., Landau, E. B., & Losh, M. C. (2021) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2021.718572 · Cited by 8 · see citing works
“Most individuals with FXS had not been clinically evaluated for ASD previously, and due to time restrictions and participant retention considerations, the ADI-R could only be administered to roughly half the sample, necessitating reliance on the ADOS for group classification [see also (88)].”
MethodSelf-citationHunt, E. E., Hogan, A. L., Will, E., & Roberts, J. E. (2022) · Child Neuropsychology · doi:10.1080/09297049.2022.2120605 · Cited by 9 · see citing works
“…Lord et al., 2012), a playbased, semi-structured socio-behavioral assessment, and gold-standard tool for the diagnosis of ASD that has been extensively used to measure ASD symptoms in individuals with FXS (Abbeduto et al., 2019; Klusek et al., 2014; Roberts et al., 2018; Wall et al., 2019).”
BackgroundMethodParenting of children with Down syndrome compared to fragile X syndrome
Sterling, A. M., & Warren, S. F. (2016) · Developmental Neurorehabilitation · doi:10.1080/17518423.2016.1259274 · Cited by 8 · see citing works
Abbeduto, L., Klusek, J., Taylor, J. L., Abdelnur, N., Sparapani, N., & Thurman, A. J. (2021) · Brain Sciences · doi:10.3390/brainsci11091179 · Cited by 8 · see citing works
Self-citationDaily Living Skills in Adolescent and Young Adult Males With Fragile X Syndrome
Thurman, A. J., Swinehart, S. S., Klusek, J., Roberts, J. E., Bullard, L., Marzan, J. C. B., Brown, W. T., & Abbeduto, L. (2022) · American Journal on Intellectual and Developmental Disabilities · doi:10.1352/1944-7558-127.1.64 · Cited by 8 · see citing works
Self-citationMONOGENIC DISORDERS: AN OVERVIEW.
Babar, U. (2017) · International Journal of Advanced Research · doi:10.21474/ijar01/3294 · Cited by 8 · see citing works
Moskowitz, L. J., Will, E., Black, C. J., & Roberts, J. E. (2024) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-024-09569-2 · Cited by 6 · see citing works
“ASD is highly prevalent in FXS and may differentially or multiplicatively account for the presence or severity of RRBs. Specifically, 54–80% of males and 14–41% of females meet diagnostic criteria for ASD (e.g., [3, 45, 46]).”
BackgroundScreening for FMR1 CGG Repeat Expansion in Thai Patients with Autism Spectrum Disorder
Hnoonual, A., Jankittunpaiboon, C., & Limprasert, P. (2021) · BioMed Research International · doi:10.1155/2021/4359308 · Cited by 6 · see citing works
Joint attention performance in preschool-aged boys with autism or fragile X syndrome
Thurman, A. J., & Nunnally, A. D. (2022) · Frontiers in Psychology · doi:10.3389/fpsyg.2022.918181 · Cited by 7 · see citing works
“Indeed, nearly all males with FXS demonstrate symptoms consistent with the autism phenotype, and 60% or more meet the criteria for an autism diagnosis when using gold-standard assessment tools (Clifford et al., 2007; Harris et al., 2008; Kaufmann et al., 2008; Abbeduto and McDuffie, 2010; Budimirovic and Kaufmann, 201…”
BackgroundRethinking Measurement Standards of Autism Symptomology in Adolescents with Fragile X Syndrome
Fielding-Gebhardt, H., Bredin-Oja, S. L., Warren, S. F., & Brady, N. C. (2021) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-021-04892-2 · Cited by 5 · see citing works
Ezell, J., Hogan, A., Will, E., Smith, K., & Roberts, J. (2022) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2021.729127 · Cited by 5 · see citing works
The Emergence of Effortful Control in Young Boys With Fragile X Syndrome
Robinson, M. L., Klusek, J., Poe, M. D., Hatton, D. D., & Roberts, J. E. (2018) · American Journal on Intellectual and Developmental Disabilities · doi:10.1352/1944-7558-123.2.89 · Cited by 4 · see citing works
Self-citationAutistic Traits Associated with the Fragile X Premutation Allele: The Neurodevelopmental Profile
Zucker, A., & Hinton, V. J. (2024) · Developmental Neuropsychology · doi:10.1080/87565641.2024.2351795 · Cited by 4 · see citing works
“…known to be associated with an ASD presentation, Fragile X Syndrome (FXS) is often described as the most common, with an increased risk of ~50–75% in males and ~20% in females with FXS having ASD (García ‐ Nonell et al., 2008; Harris et al., 2008; Kaufmann et al., 2004; Klusek et al., 2014, 2023).”
BackgroundFriedman, L., Lorang, E. K., Hilvert, E., & Sterling, A. M. (2020) · Journal of Speech Language and Hearing Research · doi:10.1044/2020_jslhr-19-00139 · Cited by 4 · see citing works
“FXS is commonly studied in conjunction with idiopathic ASD, as approximately 27%–75% of children with FXS meet criteria for a codiagnosis of ASD (FXS + ASD), depending on the measures used for diagnosis (Abbeduto et al., 2019; Clifford et al., 2007; Klusek et al., 2014b).”
BackgroundMethodResultInfluentialCognitive and Social–Emotional Development in Girls With Fragile X Syndrome
Bartholomay, K. L., Lightbody, A. A., Ma, Q., Jo, B., Jordan, T. L., & Reiss, A. L. (2024) · PEDIATRICS · doi:10.1542/peds.2023-065145 · Cited by 3 · see citing works
Pre-natal and Post-natal Risk Factors for Mental Retardation among Children in Varanasi
Katiyar, J., & Gupta, K. (2014) · Studies on Home and Community Science · doi:10.1080/09737189.2014.11885424 · Cited by 3 · see citing works
“The findings of present study are consistent with the previous research (Klusek et al. 2014).”
ResultThurman, A. J., Nunnally, A. D., Nguyen, V. H., Berry‐Kravis, E., Sterling, A. M., Edgin, J. O., Hamilton, D., Aschkenasy, J. R., & Abbeduto, L. (2024) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-024-06535-8 · Cited by 3 · see citing works
“…the accurate identification of autism in individuals with neu-rogenetic conditions is crucial for providing appropriate care, supporting optimal outcomes, preventing misdiag-nosis, and advancing both research and clinical practice (e.g., Klusek et al., 2014; Spinazzi et al., 2023a, 2023b).”
InfluentialHilvert, E., Hoover, J. R., Sterling, A. M., & Schroeder, S. (2020) · Journal of Speech Language and Hearing Research · doi:10.1044/2019_jslhr-19-00022 · Cited by 3 · see citing works
“A substantial number of individuals with FXS also demonstrate behaviors similar to those with ASD, with approximately 27%–75% receiving a co-diagnosis of ASD (Clifford et al., 2007; Klusek et al., 2014).”
BackgroundWall, C. A., & Roberts, J. E. (2023) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2023.1151263 · Cited by 3 · see citing works
“Furthermore, FXS has the highest penetrance for any single gene disorder associated with autism; 50–75% of males and 25% of females with FXS meet diagnostic criteria for autism (21, 22).”
BackgroundImpact of Fragile X Syndrome on Their Families
Redín, C. I., Ferrer, M. S., & Hidalgo-Alés, B. (2020) · Psicologí a Educativa · doi:10.5093/psed2020a12 · Cited by 3 · see citing works
“Neuropsychiatric phenotypes include a high risk of autism spectrum disorders (Chevreul et al., 2015; Chromik et al., 2019; Hare et al., 2016; Klusek et al. 2014; Moskowitz & Jones, 2015; Thurman et al., 2014), as well as other behavioral symptoms (Raspa et al., 2017): a) between 36% and 93% of…”
Assessing Autism Co-Occurrence in Fragile X Syndrome: Proposing a Preliminary CARS-2 Cut-Off Score
Chavers, T. N., Elmquist, M., Schabes, C., Mohammed, L., Banasik, A., & Sterling, A. M. (2025) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-025-06888-8 · Cited by 2 · see citing works
“The Leiter-R has demonstrated high reliability and validity compared to other cognitive assessments (Roid et al., 2003) and has been used in individuals with FXS (e.g., Haebig & Sterling, 2017; Klusek et al., 2014b; Kover et al., 2013; Skinner et al., 2005).”
InfluentialFielding-Gebhardt, H., Brady, N. C., Bredin-Oja, S. L., & Warren, S. F. (2023) · Research in Developmental Disabilities · doi:10.1016/j.ridd.2022.104417 · Cited by 2 · see citing works
Characterising the social interaction style of autism in young adult males with fragile X syndrome
Moser, C., Campanelli, A., Friedman, L., Thurman, A. J., Roberts, J. E., Abbeduto, L., & Klusek, J. (2024) · Journal of Intellectual Disability Research · doi:10.1111/jir.13121 · Cited by 2 · see citing works
Self-citationRandel, A. B., Adlof, S. M., Klusek, J., & Roberts, J. E. (2015) · PubMed · Cited by 2 · see citing works
Self-citationWill, E., Hills, K. J., Smith, K., McQuillin, S. D., & Roberts, J. E. (2024) · Autism · doi:10.1177/13623613231225498 · Cited by 2 · see citing works
“…the nature of this co-occurrence is relatively well investigated apart from the exploration of any compounded developmental effects from infancy through early childhood that may arise in the context of co-occurring ASD in FXS (Kaufmann et al., 2017; Klusek et al., 2014; Roberts et al., 2020).”
InfluentialJulien, H. M. (2018) · University of Minnesota Digital Conservancy (University of Minnesota) · Cited by 2 · see citing works
Elevated polygenic burden for ASD is associated with the broad autism phenotypePreprint
Nayar, K., Sealock, J., Maltman, N., Bush, L. A., Cook, E. H., Davis, L. K., & Losh, M. C. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/838375 · Cited by 2 · see citing works
Self-citationExamination of the ADOS-2 Expressive Language Score in Fragile X Syndrome
Fielding-Gebhardt, H., Bredin-Oja, S. L., & Warren, S. F. (2021) · American Journal on Intellectual and Developmental Disabilities · doi:10.1352/1944-7558-126.3.260 · Cited by 1 · see citing works
“Estimates suggest that as many as 75 to 97% of males and 25% of females with FXS meet ADOS-2 criteria for autism or autism spectrum disorder (Haebig et al., 2020; Klusek et al., 2014).”
Friedman, L., Moser, C., Thurman, A. J., Taylor, J. L., Abbeduto, L., & Klusek, J. (2024) · Journal of Intellectual Disability Research · doi:10.1111/jir.13182 · Cited by 1 · see citing works
“Additionally, up to 75% of males and 25% of females meet criteria for co-occurring autism spectrum disorder (Clifford et al., 2007; Klusek, Martin and Losh, 2014; Haebig et al., 2020; Klusek et al., 2023).”
Self-citationAn Approach to the Genetic Evaluation of Children with Autism Spectrum Disorders
Marble, M., & McPherson, P. (2022) · Autism and child psychopathology series · doi:10.1007/978-3-031-06120-2_14 · Cited by 1 · see citing works
Adebisi, R. O. (2020) · Konselor · doi:10.24036/0202094109465-0-00 · Cited by 1 · see citing works
Cytogenetic and fragile X testing in a group of Romanian autistic children.
Dronca, E., Militaru, M., Ciumărnean, L., & Pop, I. V. (2015)
Guy, J., & Scerif, G. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-804461-2.00021-4
Social cognition in autism spectrum disorder and neurogenetic syndromes
Maier, A., Ryan, N. P., Chisholm, A. K., & Payne, J. M. (2021) · Routledge eBooks · doi:10.4324/9781003027034-4
Martin, G. E., Bush, L. C., Patel, S. P., & Losh, M. C. (2021) · Springer eBooks · doi:10.1007/978-3-030-74985-9_4
Self-citationLanguage Skills Influence Transition Planning in Adolescents With Fragile X Syndrome.
Boorom, O. A., Fielding-Gebhardt, H., Bredin-Oja, S. L., Fleming, K., Romine, R. S., & Brady, N. C. (2024) · PubMed · doi:10.1352/1944-7558-129.1.56
“syndrome have a co-occurring diagnosis of autism spectrum disorder (ASD) with prevalence being higher in males than females (Abbeduto et al., 2014; Bailey et al., 2006; Haebig et al., 2020; Klusek et al., 2014; Roberts et al., 2020).”
BackgroundThe FMR1 Phenotype: Premutation and Fragile X Syndrome
Arnold, H. P., Hunt, E. E., Hantman, R. M., Black, C. J., Knott, C. E., Lynch, D. R., & Roberts, J. E. (2024) · Contemporary clinical neuroscience · doi:10.1007/978-3-031-66932-3_14
Autonomic Function in Fragile X Syndrome: A Systematic Review
Weissgold, S. A., Eley, S. E. A., Wright, D., McKechanie, A. G., & Stanfield, A. C. (2026) · Journal of Intellectual Disability Research · doi:10.1111/jir.70106
“Consistent with the increased severity of the FXS clinical profile in males compared to females (Klusek et al. 2014), 14 studies included males only, five studies solely included females, and nine included both males and females.”
Intergenerational associations in inhibitory control in FMR1 families
Hunt, E. E., Arnold, H. P., Cortez, K. B., & Roberts, J. E. (2026) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2026.1820723
- Authors
- Klusek, J., Martin, G. E., & Losh, M.
- Affiliations
- University of North Carolina at Chapel Hill (US)
- Northwestern University (US)
- Corresponding author
- Losh, M.
- ORCID
- Venue
- Journal of Intellectual Disability Research
- Publisher
- Wiley
- Published
- 2014-02-17
- Volume
- 58
- Issue
- 10
- Pages
- 940-952
- ISSN
- 0964-2633 (ISSN-L)
- 1365-2788
- PMC
- PMC4207708
- OpenAlex
- W2106217747
- Cited by
- 99
- References
- 49
- Citations by year
- 2026: 2 · 2025: 1 · 2024: 9 · 2023: 6 · 2022: 7 · 2021: 12 · 2020: 13 · 2019: 11 · 2018: 15 · 2017: 7 · 2016: 8 · 2015: 3 · 2014: 5
- FWCI
- 5.02
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Journal of Intellectual Disability Research (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Scholar Commons (University of South Carolina) (submittedVersion)
- Funders
- National Institute of Child Health and Human Development (R01HD0388190, R01HD038819, R01HD044935)
- National Institute on Deafness and Other Communication Disorders (1R01DC010191, R03DC010880)
- National Institute of Mental Health (R01MH091131)
- National Fragile X Foundation
- Ireland Family Foundation
- Research Participant Registry Core of the Carolina Institute for Developmental Disabilities (P30HD03110)
- 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, diagnosis, research diagnosis, sex differences, executive function, diagnostic predictors
- MeSH terms
- Adolescent, Child, Child Development Disorders, Pervasive, Child, Preschool, Female, Fragile X Syndrome, Humans, Male, Psychiatric Status Rating Scales, Comorbidity
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