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Open Access 01-12-2020 | Electroencephalography | Review

Developmental studies in fragile X syndrome

Authors: Khaleel A. Razak, Kelli C. Dominick, Craig A. Erickson

Published in: Journal of Neurodevelopmental Disorders | Issue 1/2020

Abstract

Fragile X syndrome (FXS) is the most common single gene cause of autism and intellectual disabilities. Humans with FXS exhibit increased anxiety, sensory hypersensitivity, seizures, repetitive behaviors, cognitive inflexibility, and social behavioral impairments. The main purpose of this review is to summarize developmental studies of FXS in humans and in the mouse model, the Fmr1 knockout mouse. The literature presents considerable evidence that a number of early developmental deficits can be identified and that these early deficits chart a course of altered developmental experience leading to symptoms well characterized in adolescents and adults. Nevertheless, a number of critical issues remain unclear or untested regarding the development of symptomology and underlying mechanisms. First, what is the role of FMRP, the protein product of Fmr1 gene, during different developmental ages? Does the absence of FMRP during early development lead to irreversible changes, or could reintroduction of FMRP or therapeutics aimed at FMRP-interacting proteins/pathways hold promise when provided in adults? These questions have implications for clinical trial designs in terms of optimal treatment windows, but few studies have systematically addressed these issues in preclinical and clinical work. Published studies also point to complex trajectories of symptom development, leading to the conclusion that single developmental time point studies are unlikely to disambiguate effects of genetic mutation from effects of altered developmental experience and compensatory plasticity. We conclude by suggesting a number of experiments needed to address these major gaps in the field.

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Title: Developmental studies in fragile X syndrome
Authors: Khaleel A. Razak
Kelli C. Dominick
Craig A. Erickson
Publication date: 01-12-2020
Publisher: BioMed Central
Keyword: Electroencephalography
Published in: Journal of Neurodevelopmental Disorders / Issue 1/2020
Print ISSN: 1866-1947
Electronic ISSN: 1866-1955
DOI: https://doi.org/10.1186/s11689-020-09310-9

2024 ASCO Annual Meeting

Springer Medicine

Developmental studies in fragile X syndrome

Abstract

2024 ASCO Annual Meeting

Springer Medicine

Abstract

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