Fragile X syndrome: lifespan developmental implications for those without as well as with intellectual disability
Abstract
PURPOSE OF REVIEW: Advances in developmental neuropsychiatry and the mental health needs of people with intellectual disability are creating ever greater understanding of the critical associations between human genome variations and psychological functioning throughout lifespan and across the entire intellectual ability spectrum. This review highlights the recent developments and their clinical implications for people with fragile X syndrome. RECENT FINDINGS: There is substantial evidence for individuals of all ages and intellectual abilities being prone to psychological profiles determined not only by having a fragile X gene full mutation, but also by having premutations and intermediate alleles. The importance of these genetic contributors to mental life, if anything, increases with age. Premutation carriers are prone to neurodegenerative mid-life fragile X tremor-ataxia syndrome. Women with premutations experience premature ovarian insufficiency. Imbalances in the (gamma amino butyrie acid)-glutamate mediated postsynaptic cascade central neuronal pathways are a current focus of psychopharmacological enquiry, giving the hope of syndrome-specific medical treatments. SUMMARY: Findings from genetic, neurological, biochemical, psychological and pharmacological research are combining to revolutionize understanding of the pathogenesis of developmental and psychological disabilities affecting individuals with fragile X syndrome irrespective of age, intelligence level and gene mutation status. Results of syndrome-specific medication trials are awaited.
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Cognitive and behavioral therapies combined with educational stimuli are beneficial for developing self-care and social and adaptive behaviors in patients with FXS.
“cognitive and behavioral therapies in patients, together with educational stimuli, have been beneficial in facilitating the development of self-care and social and adaptive behaviors”
From Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics (2012) · cites this paper as [132]
These therapies enhance the quality of family life.
“all of which greatly enhance the quality of family life within the given contexts (131-135).”
From Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics (2012) · cites this paper as [132]
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- Authors
- Turk, J.
- Affiliations
- University of London (GB)
- Corresponding author
- Turk, Jeremy
- Venue
- Current Opinion in Psychiatry
- Published
- 2011-09
- Volume
- 24
- Issue
- 5
- Pages
- 387-397
- ISSN
- 0951-7367 (ISSN-L)
- OpenAlex
- W2001899166
- Cited by
- 35
- References
- 88
- Citations by year
- 2026: 1 · 2025: 2 · 2024: 1 · 2023: 1 · 2022: 1 · 2020: 1 · 2019: 1 · 2018: 1 · 2017: 6 · 2016: 3 · 2015: 2 · 2014: 6 · 2013: 6 · 2012: 3
- FWCI
- 0.51
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Current Opinion in Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
- Keywords
- fragile X syndrome, fragile X premutation, fragile X-associated tremor/ataxia syndrome, premature ovarian insufficiency, intellectual disability, psychopharmacology, gene mutation status
- MeSH terms
- Female, Fragile X Syndrome, Humans, Life Expectancy, Longevity, Male, Intellectual Disability
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