Evidence of depressive symptoms in fragile-X syndrome premutated females.
OBJECTIVE
Fragile-X premutation carriers have been considered asymptomatic patients for a long time. It has been, however, demonstrated that the premutation is also involved in clinical pathology, such as premature ovarian failure, the fragile-X-associated tremor/ataxia syndrome, and a distinct neurocognitive and behavioral phenotype, which includes psychiatric problems. To define better this neuropsychiatric phenotype associated with premutation carriers and to minimize a possible environmental effect, we examined psychiatric and depressive symptoms in 34 FMR1 premutation carrier mothers of children with fragile-X syndrome in comparison with two control groups (39 mothers with a non-fragile-X syndrome mentally retarded child and 39 mothers from the general population).


METHODS
All participants completed both questionnaires, which assess psychiatric symptoms (the symptom checklist-90-revised) and depression (Beck Depression Inventory).


RESULTS
Both groups of mothers with a mentally retarded child showed greater susceptibility to psychological problems than the control group without a mentally retarded child, but FMR1 premutated mothers evidenced a higher tendency to depression. These results suggest that, despite the stress of caring for a child with mental retardation, the premutation by itself could be responsible for some psychiatric traits.


CONCLUSIONS
Our findings reinforce the hypothesis of a pathogenic gene-brain-behavior mechanism in the premutation range.
Rodriguez-Revenga
Laia
L
Biochemistry and Molecular Genetics Department, Hospital Clínic and IDIBAPS, Barcelona, Spain.
Madrigal
Irene
I
Alegret
Montserrat
M
Santos
Mónica
M
Milà
Montserrat
M
D000328:Adult; D016022:Case-Control Studies; D003863:Depression / Q000150:complications*; D005260:Female; D005600:Fragile X Syndrome / Q000150:complications* / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D011569:Psychiatric Status Rating Scales