Specific learning disorders in sex chromosome aneuploidies: Neural circuits of literacy and mathematics.
Publication/Presentation Date
6-1-2020
Abstract
Sex chromosome aneuploidies (SCA) are associated with an increased risk for specific learning disorders (SLD). Individuals with Klinefelter Syndrome (KS) show an increased incidence of developmental dyslexia and individuals with Turner Syndrome (TS) are often affected by developmental dyscalculia. Accordingly, KS frequently coincides with verbal deficits, and TS with visual-spatial impairments. Though neurocognitive profiles of KS and TS are well-established, little is known about the neurobiology underling learning in SCA. This review summarizes current structural and functional magnetic resonance imaging (MRI) studies in KS and TS related to literacy and mathematical skills. It includes studies that focus on correlates between brain anatomy and cognition in SCA and on functional brain responses during learning-related tasks and at rest. We highlight important neural circuits that are related to domain-specific skills of literacy and mathematics. We discuss how identifying neuroendophenotypes of learning in SCA might contribute to developing a novel framework for SLD that accounts for potential genetic effects on learning, and from the X and Y chromosomes specifically. Future research directions are considered to establish clear brain-behavior relationships that might ultimately improve the treatment of SLD in SCA across development.
Volume
184
Issue
2
First Page
518
Last Page
530
ISSN
1552-4876
Published In/Presented At
Karipidis, I. I., & Hong, D. S. (2020). Specific learning disorders in sex chromosome aneuploidies: Neural circuits of literacy and mathematics. American journal of medical genetics. Part C, Seminars in medical genetics, 184(2), 518–530. https://doi.org/10.1002/ajmg.c.31801
Disciplines
Medicine and Health Sciences
PubMedID
32463563
Department(s)
Department of Pediatrics, Department of Surgery
Document Type
Article