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Related Concept Videos

Sex-linked Disorders01:43

Sex-linked Disorders

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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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Aberrant Neural Entrainment to Word-Level Speech Patterns in Fragile X Syndrome: Evidence for a Statistical Learning Deficit.

Autism research : official journal of the International Society for Autism Research·2026
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FMR1 gene therapy restores translationally relevant phenotypes in a mouse model for fragile X syndrome.

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Neonatal expression of human FMRP isoform corrects cortical deficits and improves behavior in a mouse model of fragile X syndrome.

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Gaboxadol increases resting theta and alpha power without affecting evoked responses in fragile X syndrome in a home-based setting.

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Related Experiment Video

Updated: Dec 22, 2025

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
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Developmental studies in fragile X syndrome.

Khaleel A Razak1, Kelli C Dominick2,3, Craig A Erickson4,5

  • 1Department of Psychology and Graduate Neuroscience Program, University of California, Riverside, USA.

Journal of Neurodevelopmental Disorders
|May 4, 2020
PubMed
Summary

Fragile X syndrome (FXS) is a genetic disorder causing intellectual disability. Early developmental deficits in FXS chart a course for later symptoms, but optimal treatment timing remains unclear.

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Area of Science:

  • Neurodevelopmental Disorders
  • Genetics
  • Autism Spectrum Disorders

Background:

  • Fragile X syndrome (FXS) is the leading single-gene cause of autism and intellectual disabilities.
  • FXS is characterized by anxiety, sensory issues, seizures, repetitive behaviors, and social impairments.

Purpose of the Study:

  • To review human and mouse model developmental studies of Fragile X syndrome.
  • To highlight critical unanswered questions regarding FXS symptom development and mechanisms.

Main Methods:

  • Literature review of developmental studies in humans and Fmr1 knockout mice.
  • Analysis of evidence for early developmental deficits and their impact on later symptoms.

Main Results:

  • Early developmental deficits in FXS contribute to altered developmental trajectories and adult symptoms.
  • The precise role of FMRP across developmental ages and the potential for adult therapeutic intervention require further investigation.

Conclusions:

  • FXS symptom development is complex, influenced by genetic mutation and altered developmental experiences.
  • Further research is needed to clarify FMRP's role and establish optimal therapeutic windows for FXS interventions.