scholarly journals Insights into brain development from neurogenetic syndromes: evidence from fragile X syndrome, Williams syndrome, Turner syndrome and velocardiofacial syndrome

Neuroscience ◽  
2009 ◽  
Vol 164 (1) ◽  
pp. 257-271 ◽  
Author(s):  
E. Walter ◽  
P.K. Mazaika ◽  
A.L. Reiss
PEDIATRICS ◽  
1998 ◽  
Vol 102 (Supplement_3) ◽  
pp. 492-496
Author(s):  
Michèle M. M. Mazzocco

Objective. To expand on previous reports of mathematics difficulty in girls with Turner syndrome (TS). Methods. Mathematics performance was examined by evaluating the types of errors made on mathematics achievement subtests by 29 girls with TS, 26 girls with fragile X syndrome (another genetic condition associated with mathematics difficulty), and 41 girls with neither disorder. Correlations between mathematics achievement scores and measures of IQ, attention, and visuospatial skills were also examined. Results. Relatively low mathematics achievement was evident in girls with TS before 10 years of age, and a higher percentage of girls with TS made operation (57%) and alignment (48%) errors on a mathematics calculations test than did girls with fragile X syndrome (19% and 14%, respectively). No group differences were found for procedural or multiplication table errors. Girls with TS attempted more “unfamiliar” problems than did girls with fragile X syndrome or girls in the comparison group. Mathematics achievement scores in girls with TS were positively correlated with Judgment of Line Orientation and Wechsler Intelligence Scale for Children–Revised Third Factor scores; these correlations differed from those in the other groups. Conclusions. The qualitative group differences observed further support the concept of specificity of the TS phenotype and illustrate the importance of a process approach to assessment.


2006 ◽  
Vol 61 (2) ◽  
pp. 195-210 ◽  
Author(s):  
Melissa M. Murphy ◽  
Michèle M.M. Mazzocco ◽  
Gwendolyn Gerner ◽  
Anne E. Henry

2010 ◽  
Vol 107 (20) ◽  
pp. 9335-9339 ◽  
Author(s):  
F. Hoeft ◽  
J. C. Carter ◽  
A. A. Lightbody ◽  
H. Cody Hazlett ◽  
J. Piven ◽  
...  

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Tatsuaki Kurosaki ◽  
Hitomi Sakano ◽  
Christoph Pröschel ◽  
Jason Wheeler ◽  
Alexander Hewko ◽  
...  

Abstract Background Fragile X syndrome (FXS) is an intellectual disability attributable to loss of fragile X protein (FMRP). We previously demonstrated that FMRP binds mRNAs targeted for nonsense-mediated mRNA decay (NMD) and that FMRP loss results in hyperactivated NMD and inhibition of neuronal differentiation in human stem cells. Results We show here that NMD is hyperactivated during the development of the cerebral cortex, hippocampus, and cerebellum in the Fmr1-knockout (KO) mouse during embryonic and early postnatal periods. Our findings demonstrate that NMD regulates many neuronal mRNAs that are important for mouse brain development. Conclusions We reveal the abnormal regulation of these mRNAs in the Fmr1-KO mouse, a model of FXS, and highlight the importance of early intervention.


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