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Autistic spectrum disorder and the fragile X premutation
Beth L Goodlin-Jones1, Flora Tassone, Louise W Gane
1M.I.N.D. Institute, Department of Psychiatry and Behavioral Sciences, UCDHS, Sacramento, California 95817, USA. blgodlinjones@ucdavis.edu
Journal of Developmental and Behavioral Pediatrics : JDBP
|December 23, 2004
Summary
Fragile X syndrome (FXS) carriers in the premutation range can develop Autism Spectrum Disorder (ASD). This study identifies individuals with FXS premutation and ASD, highlighting varied cognitive abilities and molecular factors.
Area of Science:
- Neurogenetics
- Developmental Neuroscience
- Autism Research
Background:
- Fragile X syndrome (FXS) is a leading inherited cause of intellectual disability and a common identifiable cause of Autism Spectrum Disorder (ASD).
- Individuals in the FXS premutation range are typically considered unaffected cognitively and behaviorally.
- The FMR1 gene is implicated in FXS, with its protein and mRNA levels playing crucial roles.
Observation:
- This study reports on six individuals with FXS premutation who were diagnosed with ASD.
- A comparative analysis was conducted with five individuals in the FXS premutation range without ASD.
- Cognitive abilities in the individuals with ASD varied from no impairment to moderate intellectual disability.
Findings:
- The presence of ASD in individuals with FXS premutation is confirmed.
- Molecular variables, including reduced FMR1 protein and increased FMR1 mRNA, are discussed as potential contributors.
- Environmental factors are also considered in the development of ASD in this cohort.
Implications:
- This research expands the understanding of Fragile X syndrome's phenotypic variability.
- It highlights the potential for ASD development even in the premutation range of FXS.
- Further investigation into the interplay of genetic and environmental factors in FXS-associated ASD is warranted.