Skip to main content Accessibility help

We use cookies to distinguish you from other users and to provide you with a better experience on our websites. Close this message to accept cookies or find out how to manage your cookie settings.

Close cookie message
×
Hostname: page-component-cd9895bd7-mkpzs Total loading time: 0 Render date: 2025-01-03T19:30:47.123Z Has data issue: false hasContentIssue false

7 - Genetic disorders as models of mathematics learning disability: Fragile X and Turner syndromes

Published online by Cambridge University Press:  04 August 2010

By
Melissa M. Murphy ,
Michèle M. M. Mazzocco  and
Michael McCloskey
Edited by
Marcia A. Barnes
Marcia A. Barnes
Affiliation:
University of Texas Health Science Center, Houston
Get access

Summary

Neurodevelopmental disorders and mathematics learning disability

Poor math achievement is well documented in both children and adults with fragile X or Turner syndrome (Bennetto et al., 2001; Brainard et al., 1991; Grigsby et al., 1990; Mazzocco, 1998, 2001; Rovet, 1993; Rovet et al., 1994; Temple & Marriott, 1998). However, there is limited understanding of the cognitive mechanisms that contribute to these poor math outcomes. Specification of these underlying causes is the necessary next step in research on the cognitive phenotypes for these disorders (Mazzocco & McCloskey, 2005). Our efforts to understand the origins of mathematical cognition in fragile X and Turner syndromes are guided by existing knowledge in the field of mathematics learning disability (MLD). This body of research provides a conceptual framework for the contribution of different cognitive systems, such as executive function, visual–spatial, and language skills, to overall competence in mathematics (see Geary, 1993, 1994) as elaborated later in this chapter. Accordingly, the assessment of math ability in persons with fragile X or Turner syndrome is most informative when examined in the context of the overall cognitive phenotype, or the set of cognitive characteristics, associated with each disorder.

Although models of MLD are informative for understanding mathematical functioning in genetic conditions such as fragile X or Turner syndrome, the study of these syndromes may also inform the broader field of MLD research.

Type
Chapter
Information
Genes, Brain and Development
The Neurocognition of Genetic Disorders
 , pp. 143 - 174
Publisher: Cambridge University Press
Print publication year: 2010

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Abbeduto, L. & Murphy, M. M. (2004). Language, social cognition, maladaptive behavior, and communication in Down syndrome and fragile X syndrome. In Rice, M. & Warren, S. (Eds.), Developmental Language Disorders: From Phenotypes to Etiologies (pp. 77–97). Mahwah, NJ: Lawrence Erlbaum Associates.Google Scholar
Ansari, D., Donlan, C., & Karmiloff-Smith, A. (2007). Atypical and typical development of visual estimation abilities. Cortex: Special Issue on Selective Developmental Disorders, 6, 758–68.CrossRefGoogle Scholar
Ansari, D., Donlan, C., Thomas, M. S., Ewing, S. A., Peen, T., & Karmiloff-Smith, A. (2003). What makes counting count? Verbal and visuo-spatial contributions to typical and atypical number development. Journal of Experimental Child Psychology, 85, 50–62.CrossRefGoogle ScholarPubMed
Bailey, D. B., Hatton, D. D., & Skinner, M. (1998). Early developmental trajectories of males with fragile X syndrome. American Journal of Mental Retardation, 103, 29–39.2.0.CO;2>CrossRefGoogle ScholarPubMed
Barbaresi, W. J., Katusic, S. K., Colligan, R. C., Weaver, A. L., & Jacobsen, S. J. (2005). Math learning disorder: Incidence in a population-based birth cohort, 1976–82, Rochester, Minn. Ambulatory Pediatrics, 5, 281–9.CrossRefGoogle Scholar
Barnes, M. A., Wilkinson, M., Khemani, E., Boudesquie, A., Dennis, M., & Fletcher, J. M. (2006). Arithmetic processing in children with spina bifida: Calculation accuracy, strategy use, and fact retrieval fluency. Journal of Learning Disabilities, 39, 174–87.CrossRefGoogle ScholarPubMed
Bellugi, U., Lichtenberger, L., Jones, W., Lai, Z., & St. George, M. (2000). The neurocognitive profile of Williams Syndrome: A complex pattern of strengths and weaknesses. Journal of Cognitive Neuroscience, 12, 7–29.CrossRefGoogle ScholarPubMed
Bennetto, L., Pennington, B. F., Porter, D., Taylor, A. K., & Hagerman, R. J. (2001). Profile of cognitive functioning in women with the fragile X mutation. Neuropsychology, 15, 290–9.CrossRefGoogle ScholarPubMed
Berch, D. B. (2005). Making sense of number sense: Implications for children with mathematical disabilities. Journal of Learning Disabilities, 38, 289–384.CrossRefGoogle ScholarPubMed
Blair, C., Zelazo, P. D., & Greenburg, M. T. (2005). The measurement of executive function in early childhood. Developmental Neuropsychology, 28, 561–71.CrossRefGoogle ScholarPubMed
Brainard, S. S., Schreiner, R. A., & Hagerman, R. J. (1991). Cognitive profiles of the carrier fragile X woman. American Journal of Medical Genetics, 38, 505–8.CrossRefGoogle ScholarPubMed
Bruandet, M., Molko, N., Cohen, L., & Dehaene, S. (2004). A cognitive characterization of dyscalculia in Turner syndrome. Neuropsychologia, 42, 288–98.CrossRefGoogle ScholarPubMed
Buchanan, L., Pavlovic, J., & Rovet, J. (1998). A reexamination of the visuospatial deficit in Turner syndrome: Contributions of working memory. Developmental Neuropsychology, 14, 341–67.CrossRefGoogle Scholar
Bull, R. & Johnston, R. S. (1997). Children's arithmetical difficulties: Contributions from processing speed, item identification, and short-term memory. Journal of Experimental Child Psychology, 65, 1–24.CrossRefGoogle ScholarPubMed
Butterworth, B. (2005). Developmental dyscalculia. In Campbell, J. I. D. (Ed.), Handbook of Mathematical Cognition (pp. 455–467). New York: Psychology Press.Google Scholar
Chapman, R. S., Schwartz, S. E., & Kay-Raining Bird, E. (1991). Language skills of children and adolescents with Down syndrome: Comprehension. Journal of Speech & Hearing Research, 34, 1106–20.CrossRefGoogle ScholarPubMed
Cornish, L., Levitas, A., & Sudhalter, V. (2007). Fragile X syndrome: The journey from genes to behavior. In Mazzocco, M. M. M. & Ross, J. L. (Eds.), Neurogenetic Developmental Disorders: Variation of Manifestation in Childhood (pp. 73–103). Cambridge, MA: MIT Press.Google Scholar
Cornish, K., Munir, F., & Cross, G. (1998). The nature of the spatial deficit in young females with fragile X syndrome: A neuropsychological and molecular perspective. Neuropsychologia, 36, 1239–46.CrossRefGoogle ScholarPubMed
Cornish, K., Swainson, R., Cunnington, R., Wilding, J., Morris, P., & Jackson, G. (2004). Do women with fragile X syndrome have problems in switching attention? Preliminary findings from ERP and fMRI. Brain and Cognition, 54, 235–9.CrossRefGoogle ScholarPubMed
Crawford, D. C., Acuna, J. M., & Sherman, S. L. (2001). FMR1 and the fragile X syndrome: Human genome epidemiology review. Genetics in Medicine, 3, 359–71.CrossRefGoogle ScholarPubMed
Davenport, M. L., Hooper, S. R., & Zegar, M. (2007). Turner syndrome in childhood. In Mazzocco, M. M. M. & Ross, J. L. (Eds.), Neurogenetic developmental disorders: Variation of Manifestation in Childhood (pp. 3–45). Cambridge, MA: MIT Press.Google Scholar
Dehaene, S., Piazza, M., Pinel, P., & Cohen, L. (2005). Three parietal circuits for number processing. In Campbell, J. I. D. (Ed.), Handbook of Mathematical Cognition (pp. 433–53). New York, NY: Psychology Press.Google Scholar
Dennis, M., Berch, D. B., Mazzocco, M. M. M. (2009). Mathematical learning disabilities in special populations: Phenotypic variation and cross-disorder comparisons. Developmental Disabilities Research Reviews, 15, 80–9.CrossRefGoogle ScholarPubMed
Donlan, C. (2007). Mathematical development in children with specific language impairments. In Berch, D. B. & Mazzocco, M. M. M. (Eds.), Why Is Math So Hard for Some Children? The Nature and Origins of Mathematical Learning Difficulties and Disabilities (pp. 151–72), Baltimore, MD: Brookes Publishing.Google Scholar
Ewart, A. K., Morris, C. A., Atkinson, D., et al. (1993). Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nature Genetics, 5, 11–6.CrossRefGoogle Scholar
Fais, W. & Fischer, M. H. (2005). Spatial representation of numbers. In Campbell, J. I. D. (Ed.), Handbook of Mathematical Cognition (pp. 43–54). New York: Psychology Press.Google Scholar
Frangiskakis, J. M., Ewart, A. K., Morris, C. A., et al. (1996). LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition. Cell, 86, 59–69.CrossRefGoogle ScholarPubMed
Fuchs, L. S. & Fuchs, D. (2002). Mathematical problem-solving profiles of students with mathematics disabilities with and without comorbid reading disabilities. Journal of Learning Disabilities, 35, 563–73.CrossRefGoogle ScholarPubMed
Geary, D. C. (1993). Mathematical disabilities: Cognitive, neuropsychological, and genetic components. Psychological Bulletin, 114, 345–62.CrossRefGoogle ScholarPubMed
Geary, D. C. (1994). Children's Mathematical Development: Research and Practical Applications. Washington, DC: American Psychological Association.CrossRefGoogle Scholar
Geary, D. C. (2004). Mathematics and learning disabilities. Journal of Learning Disabilities, 37, 4–15.CrossRefGoogle ScholarPubMed
Geary, D. C. (2005). Role of cognitive theory in the study of learning disability in mathematics. Journal of Learning Disabilities, 38, 305–7.CrossRefGoogle Scholar
Geary, D. C., Brown, S. C., & Samaranayake, V. A. (1991). Cogntive addition: A short longitudinal study of strategy choice and speed-of-processing differences in normal and mathematically disabled children. Developmental Psychology, 27, 787–97.CrossRefGoogle Scholar
Geary, D. C., Hoard, M. K., Byrd-Craven, J., & DeSoto, M. C. (2004). Strategy choices in simple and complex addition: Contributions of working memory and counting knowledge for children with mathematical disability. Journal of Experimental Child Psychology, 88, 121–51.CrossRefGoogle ScholarPubMed
Geary, D. C., Hoard, M. K., Nugent, L., & Byrd-Craven, J. (2007). Strategy use and working memory capacity. In Berch, D. B. & Mazzocco, M. M. M. (Eds.), Why Is Math So Hard for Some Children? The Nature and Origin of Mathematical Learning Difficulties and Disabilities (pp. 83–105), Baltimore, MD: Brookes Publishing.Google Scholar
Greenough, W. T., Klintsova, A. Y., Irwin, S. A., Galvez, R., Bates, K. E., & Weiler, I. J. (2001). Synaptic regulation of protein synthesis and the fragile X protein. Proceedings from the National Academy of Sciences of the United States of America, 98, 7101–06.CrossRefGoogle ScholarPubMed
Grigsby, J. P., Kemper, M. B., Hagerman, R. J., & Myers, C. S. (1990). Neuropsychological dysfunction among affected heterozygous fragile X females. American Journal of Medical Genetics, 35, 28–35.CrossRefGoogle ScholarPubMed
Hagerman, R. (1999). Neurodevelopmental Disorders: Diagnosis and Treatment. Oxford, UK: Oxford University Press.Google Scholar
Hagerman, R. J. (2002). The physical and behavioral phenotype. In Hagerman, R. J. & Hagerman, P. J. (Eds.), Fragile X Syndrome: Diagnosis, Treatment, and Research (pp. 3–109). Baltimore, MD: The Johns Hopkins University Press.Google Scholar
Hagerman, R. J., Jackson, C., Amiri, K., Silverman, A. C., O'Connor, R., & Sobesky, W. (1992). Girls with fragile X syndrome: Physical and neurocognitive status and outcome. Pediatrics, 89, 395–400.Google ScholarPubMed
Jakala, P., Hanninen, T., Ryynanen, M., et al. (1997). Fragile X: Neuropsychological test performance, CGG triplet repeat lengths, and hippocampal volumes. Journal of Clinical Investigation, 100, 331–8.CrossRefGoogle ScholarPubMed
Kirk, J. W., Mazzocco, M. M. M., & Kover, S. T. (2005). Assessing executive dysfunction in girls with fragile X or Turner syndrome using the Contingency Naming Test (CNT). Developmental Neuropsychology, 28, 755–77.CrossRefGoogle Scholar
Kwon, H., Menon, V., Eliez, S., et al. (2001). Functional neuroanatomy of visuospatial working memory in fragile X syndrome: Relation to behavioral and molecular measures. American Journal of Psychiatry, 158, 1040–51.CrossRefGoogle ScholarPubMed
Lasker, A., Mazzocco, M. M. M., & Zee, D. (2007). Ocular motor indicators of executive dysfunction in females with fragile X or Turner syndrome. Brain and Cognition, 63, 203–20.CrossRefGoogle ScholarPubMed
Lyon, M. F. (1972). X-chromosome inactivation and developmental patterns in mammals. Biological Reviews of the Cambridge Philosophical Society, 47, 1–35.CrossRefGoogle ScholarPubMed
Martin, N. D., Snodgrass, G. J., & Cohen, R. D. (1984). Idiopathic infantile hypercalcaemia–a continuing enigma. Archives of Disease in Childhood, 59, 605–13.CrossRefGoogle ScholarPubMed
Mazzocco, M. M. M. (1998). A process approach to describing mathematics difficulties in girls with Turner syndrome. Pediatrics, 102, 492–6.Google ScholarPubMed
Mazzocco, M. M. M. (2001). Math learning disability and math LD subtypes: Evidence from studies of Turner syndrome, fragile X syndrome, and neurofibromatosis Type 1. Journal of Learning Disabilities, 34, 520–33.CrossRefGoogle ScholarPubMed
Mazzocco, M. M. M., Bhatia, N., & Lesniak-Karpiak, K. (2006). Visuospatial skills and their association with math performance in girls with fragile X or Turner Syndrome. Child Neuropsychology, 12, 87–110.CrossRefGoogle ScholarPubMed
Mazzocco, M. M. M. & McCloskey, M. (2005). Math performance in girls with Turner or fragile X syndrome. In Campbell, J. I. D. (Ed.), Handbook of Mathematical Cognition (pp. 269–97). New York, NY: Psychology Press.Google Scholar
Mazzocco, M. M. M., Pennington, B. F., & Hagerman, R. J. (1993). The neurocognitive phenotype of female carriers of fragile X: Additional evidence for specificity. Journal of Developmental and Behavioral Pediatrics, 14, 328–35.CrossRefGoogle ScholarPubMed
McCauley, E., Kay, T., Ito, J., & Treder, R. (1987). The Turner syndrome: Cognitive deficits, affective discrimination, and behavior problems. Child Development, 58, 464–73.CrossRefGoogle ScholarPubMed
McLean, J. F. & Hitch, G. J. (1999). Working memory impairments in children with specific arithmetic learning difficulties. Journal of Experimental Child Psychology, 74, 240–60.CrossRefGoogle ScholarPubMed
Mervis, C. B., & Morris, C. A. (2007). Williams syndrome. In Mazzocco, M. M. M. and Ross, J. L. (Eds.), Neurogenetic Developmental Disorders: Variation of Manifestation in Childhood (pp. 199–262). Cambridge, MA: MIT Press.Google Scholar
Molko, N., Cachia, A., Riviere, D., et al. (2003). Functional and structural alterations of the intraparietal sulcus in a developmental dyscalculia of genetic origin. Neuron, 40, 847–58.CrossRefGoogle Scholar
Murphy, M. M, & Mozzocco, M. M. M. (in press). The trajectory of mathematics skills and working memory thresholds in girls with fragile X syndrome. Cognitive Development. In press.
Murphy, M. M., Mazzocco, M. M. M., Gerner, G., & Henry, A. E. (2006). Mathematics learning disability in girls with Turner syndrome or fragile X syndrome. Brain and Cognition, 61, 195–210.CrossRefGoogle ScholarPubMed
Murphy, M. M., Mazzocco, M. M. M., Hanich, L., & Early, M. (2007). Cognitive characteristics of children with Mathematics Learning Disability (MLD) varies as a function of criterion used to define MLD. Journal of Learning Disabilities, 40, 458–78.CrossRefGoogle Scholar
O'Hearn, K. & Landau, B. (2007). Mathematical skill in individuals with Williams Syndrome: Evidence from a standardized mathematics battery. Brain and Cognition, 64, 238–46.CrossRefGoogle ScholarPubMed
O'Hearn, K., Landau, B., & Hoffman, J. E. (2005, April). Subitizing in People with Williams Syndrome and Normally Developing Children. Paper presented at the Society for Research in Child Development, Atlanta, GA.Google Scholar
Oostra, B. A. (1996). Fragile X syndrome in humans and mice. Acta Geneticae Medicae Et Gemellologiae, 45, 93–108.CrossRefGoogle ScholarPubMed
Passolunghi, M. C. & Siegel, L. S. (2004). Working memory and access to numerical information in children with disability in mathematics. Journal of Experimental Child Psychology, 88, 348–67.CrossRefGoogle ScholarPubMed
Rivera, S. M., Menon, V., White, C. D., Glaser, B., & Reiss, A. L. (2002). Functional brain activation during arithmetic processing in females with fragile X syndrome is related to FMR1 protein expression. Human Brain Mapping, 16, 206–18.CrossRefGoogle ScholarPubMed
Romans, S. M., Roeltgen, D. P., Kushner, H., & Ross, J. L. (1997). Executive function in girls with Turner's syndrome. Developmental Neuropsychology, 13, 23–40.CrossRefGoogle Scholar
Rousseau, F., Heitz, D., Tarleton, J., et al. (1994). A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: The first 2,253 cases. American Journal of Human Genetics, 55, 225–37.Google Scholar
Rovet, J. F. (1993). The psychoeducational characteristics of children with Turner syndrome. Journal of Learning Disabilities, 26, 333–41.CrossRefGoogle ScholarPubMed
Rovet, J. F. (2004). Turner syndrome: A review of genetic and hormonal influences on neuropsychological functioning. Child Neuropsychology, 10, 262–79.CrossRefGoogle ScholarPubMed
Rovet, J. & Netley, C. (1982). Processing deficits in Turner's syndrome. Developmental Psychology, 18, 77–94.CrossRefGoogle Scholar
Rovet, J. F., Szekely, C., & Hockenberry, M. N. (1994). Specific arithmetic calculation deficits in children with Turner syndrome. Journal of Clinical and Experimental Neuropsychology, 16, 820–39.CrossRefGoogle ScholarPubMed
Scholock, , Luckasson, , Shogren, , et al. (2007).
Semel, E. & Rosner, S. R. (2003). Understanding Williams syndrome: Behavioral patterns and interventions. Mahwah, NJ: Lawrence Erlbaum Associates.Google Scholar
Shalev, R. S., Manor, O., Auerbach, J., & Gross-Tsur, V. (1998). Persistence of developmental dyscalculia: What counts?Journal of Pediatrics, 133, 358–62.CrossRefGoogle ScholarPubMed
Silver, C. H., Pennett, D.-L., Black, J. L., Fair, G. W., & Balise, R. R. (1999). Stability of arithmetic disability subtypes. Journal of Learning Disabilities, 32, 108–19.CrossRefGoogle ScholarPubMed
Strømme, P., Bjørnstad, PG, & Ramstad, K. (2002). Prevalence estimation of Williams syndrome. Journal of Child Neurology, 17, 269–71.CrossRefGoogle ScholarPubMed
Tamm, L., Menon, V., Johnston, C. K., Hessl, D. R., & Reiss, A. L. (2002). fMRI study of cognitive interference processing in females with fragile X syndrome. Journal of Cognitive Neuroscience, 14, 160–71.CrossRefGoogle ScholarPubMed
Tamm, L., Menon, V., & Reiss, A. L. (2003). Abnormal prefrontal cortex function during response inhibition in Turner syndrome: Functional magnetic resonance imaging evidence. Biological Psychiatry, 53, 107–11.CrossRefGoogle ScholarPubMed
Tassabehji, M., Metcalfe, K., Fergusson, W. D., et al. (1996). LIM-kinase deleted in Williams syndrome. Nature Genetics, 13, 272–3.CrossRefGoogle ScholarPubMed
Temple, C. M. (2002). Oral fluency and narrative production in children with Turner's syndrome. Neuropsychologia, 40, 1419–27.CrossRefGoogle ScholarPubMed
Temple, C. M. & Carney, R. A. (1993). Intellectual functioning of children with Turner syndrome: A comparison of behavioural phenotypes. Developmental Medicine and Child Neurology, 35, 691–8.CrossRefGoogle ScholarPubMed
Temple, C. M. & Carney, R. A. (1995). Patterns of spatial functioning in Turner's syndrome. Cortex, 31, 109–18.CrossRefGoogle ScholarPubMed
Temple, C. M., Carney, R. A., & Mullarkey, S. (1996). Frontal lobe function and executive skills in children with Turner's syndrome. Developmental Neuropsychology, 12, 343–63.CrossRefGoogle Scholar
Temple, C. M. & Marriott, A. J. (1998). Arithmetical ability and disability in Turner's Syndrome: A cognitive neuropsychological analysis. Developmental Neuropsychology, 14, 47–67.CrossRefGoogle Scholar
Waber, D. P. (1979). Neuropsychological aspects of Turner's syndrome. Developmental Medicine and Child Neurology, 21, 58–70.CrossRefGoogle ScholarPubMed

Save book to Kindle

To save this book to your Kindle, first ensure [email protected] is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×