Advancing knowledge of human development, developmental disabilities, and neurodegenerative diseases.
Xinyu Zhao, PhD, and Anita Bhattacharyya, PhD, will partner on research over the next four years to better understand the molecular underpinnings behind the diversity of FXS symptoms and how that diversity may inform the search for effective therapies.
A newer cancer drug may also be a treatment option for a leading intellectual and developmental disability. Fragile X syndrome (FXS) is the most common form of inherited intellectual disability.
James Manlick is going to homecoming this year and he simply can’t contain his excitement. A huge smile lights up his face as he talks about the dance.
Title: Association between FMR1 CGG Repeat Number Polymorphism and Phenotypic Variation in the General Population Legend: Associations between CGG repeat lengths and phenotypes. (A) Linear association with IQ. (B) Linear association with college graduate (males only). (C) Curvilinear association with age at menopause (females only). (D) Curvilinear association with the number of biological children (females only). (E) …
Autism spectrum disorder (ASD) and fragile X syndrome (FXS) are neurodevelopmental disorders with overlapping pragmatic language impairments. Prior work suggests pragmatic language differences may run in families. This study examined specific pragmatic difficulties (i.e., linguistic mazes and perseverations) in boys (9–18 years) with idiopathic ASD (n = 26) and FXS+ASD (n = 29), and relationships with maternal maze use.
Fragile X syndrome (FXS), the most prevalent inherited cause of intellectual disability, remains under-diagnosed in the general population. Clinical studies have shown that individuals with FXS have a complex health profile leading to unique clinical needs. However, the full impact of this X-linked disorder on the health of affected individuals is unclear and the prevalence of co-occurring conditions is unknown.
As a third year graduate student in school psychology at the University of South Carolina, Lindsay McCary, PhD, was looking for a new advisor to help her with her dissertation.
Title: Comparing tense and agreement productivity in boys with fragile X syndrome, children with developmental language disorder, and children with typical development Legend: Pattern of tense and agreement productivity across boys with fragile X syndrome (FXS), children developmental language disorder (DLD), and children with typical development (TD). The solid line indicates the median and the cross …
Researchers at the Waisman Center made a significant step in understanding the function of a specific protein, FMR1, whose absence causes fragile X syndrome, or FXS. Waisman investigators Xinyu Zhao, PhD, and Anita Bhattacharyya, PhD, with research associate Meng Li, published their paper “Identification of FMR1-regulated molecular networks in human neurodevelopment” in the March issue of the journal Genome Research.
Fragile X syndrome results from a loss of the RNA-binding protein fragile X mental retardation protein (FMRP). How FMRP regulates neuronal development and function remains unclear. Here we show that FMRP-deficient immature neurons exhibit impaired dendritic maturation, altered expression of mitochondrial genes, fragmented mitochondria, impaired mitochondrial function, and increased oxidative stress.
