Blink rate in boys with fragile X syndrome: preliminary evidence for altered dopamine function
Abstract
Background Dopamine, a neurotransmitter involved in motor and cognitive functioning, can be non‐invasively measured via observation of spontaneous blink rates. Blink rates have been studied in a number of clinical conditions including schizophrenia, autism, Parkinsons, and attention deficit/hyperactivity disorder with results implicating either hyper or hypo dopaminergic states. Methods This study examined spontaneous blink rate in boys with fragile X syndrome (FXS). Blink rates of boys (4–8 years old) with FXS (n = 6) were compared with those of age‐matched typically developing boys (n = 6) during active and passive tasks. Blink rates (blinks per minute) for each task were compared between the two groups. Then, the relation between blink measures and core FXS‐related features [problem behaviours, arousal, fmr 1 protein (FMRP)] were examined within the group of boys with FXS. Results Blink rate in boys with FXS was significantly higher than typically developing boys during passive tasks. Within the FXS group, there were significant correlations between blink rate and problem behaviours and physiological arousal (i.e. heart activity) but not with FMRP. Conclusions Observed differences in spontaneous blink rate between boys with and without FXS and the relation between blink rate and physiological and behavioural measures in boys with FXS suggests that further work examining dopamine dysfunction as a factor in the pathophysiology of FXS may be warranted.
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There is evidence that DA functioning may be atypical in FXS, as shown by high rates of comorbidity with tremor disorders, higher blink rates, and emerging preclinical models.
“However, there is evidence that DA functioning may be atypical in FXS, as shown by high rates of comorbidity with tremor disorders [725], higher blink rates [726], and emerging preclinical models [714].”
From Reward circuitry dysfunction in psychiatric and neurodevelopmental disorders and genetic syndromes: animal models and clinical findings (2012) · cites this paper as [726]
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- Authors
- Roberts, J. E., Symons, F. J., Johnson, A. ‐., Hatton, D. D., & Boccia, M. L.
- Affiliations
- University of North Carolina at Chapel Hill (US)
- University of Minnesota (US)
- Corresponding author
- Roberts, J. E.
- Venue
- Journal of Intellectual Disability Research
- Publisher
- Wiley
- Published
- 2005-07-07
- Volume
- 49
- Issue
- 9
- Pages
- 647-656
- ISSN
- 0964-2633 (ISSN-L)
- 1365-2788
- OpenAlex
- W2074648711
- Cited by
- 24
- References
- 66
- Citations by year
- 2024: 1 · 2023: 1 · 2022: 1 · 2017: 3 · 2016: 2 · 2015: 2 · 2014: 1 · 2013: 2 · 2012: 2
- FWCI
- 0.72
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Intellectual Disability Research (publishedVersion)
- PubMed (publishedVersion)
- Funders
- FRAXA Research Foundation
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (#HD03110, P30HD003110)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Keywords
- fragile X syndrome, blink rate, dopaminergic dysfunction, spontaneous eye movements, boys, behavioral problems, physiological arousal, heart rate, FMRP
- MeSH terms
- Arousal, Attention, Blinking, Child, Child Behavior Disorders, Dopamine, Fragile X Syndrome, Humans, Male, Phenotype, Reference Values, Statistics as Topic, Fragile X Messenger Ribonucleoprotein 1
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