Blink rate in boys with fragile X syndrome: preliminary evidence for altered dopamine function.
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.
Roberts
J E
JE
Frank Porter Graham Child Development Institute, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA. roberts2@mail.fpg.unc.edu
Symons
F J
FJ
Johnson
A-M
AM
Hatton
D D
DD
Boccia
M L
ML
D001143:Arousal / Q000502:physiology; D001288:Attention / Q000502:physiology; D001767:Blinking / Q000235:genetics* / Q000502:physiology; D002648:Child; D002653:Child Behavior Disorders / Q000235:genetics / Q000503:physiopathology; D004298:Dopamine / Q000502:physiology*; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics; D005600:Fragile X Syndrome / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D010641:Phenotype; D012016:Reference Values; D013223:Statistics as Topic
D004298:Dopamine; D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human