Evidence of depressive symptoms in fragile-X syndrome premutated females

Rodríguez‐Revenga, Laia; Madrigal, Irene; Alegret, Montserrat; Santos, Mónica; Milá, Montserrat

doi:10.1097/ypg.0b013e3282f97e0b

Cited by 57 publications

(47 citation statements)

References 13 publications

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“…Also, all the women with PPD but two experienced the lifetime onset of MDD in the postpartum period. Previous research has indicated higher depressive symptoms in mothers of children with FXS than in mothers of children with mental retardation due to another cause [23], as well as lower well-being levels in mothers of children with FXS [24]. Abbeduto et al showed a significant correlation between the number of disabled children and depressive symptoms in mothers of individuals with FXS, Down syndrome, and autism [24].…”

Section: Discussionmentioning

confidence: 99%

Postpartum Depression in Women with the FMR1 Premutation

Obadia¹,

Iosif²,

Seritan³

2013

CPSR

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Background Psychiatric disorders in women with the FMR1 premutation are common and include attention deficit hyperactivity disorder, anxiety, depression, and eating disorders. This pilot study explored the risk factors for postpartum depression (PPD) in women with the premutation. Methods We conducted a chart review of 50 women premutation carriers with major depressive disorder who had children. Of these, 7 women had a history of major depressive episodes in the postpartum period. The PPD and non-PPD groups were characterized descriptively based on women’s age at the time of the psychiatric evaluation, race, ethnicity, education level, IQ, CGG repeat size, comorbid psychiatric conditions, parity, and number of children with fragile X syndrome (FXS). Exact logistic regression was used to analyze the relationship between the number of children with FXS and the risk of PPD. Results The PPD and non-PPD groups were similar on all variables examined, with the exception of the number of affected children. Each of the 7 women with PPD had at least one child with FXS, whereas a third of the women without PPD had no affected children. For each additional affected child, the risk of PPD increased by 158% (exact odds ratio 2.58, 95% CI 0.99–7.59). Further studies are needed to replicate these findings and to better characterize PPD in female premutation carriers.

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Section: Discussionmentioning

confidence: 99%

Postpartum Depression in Women with the FMR1 Premutation

Obadia¹,

Iosif²,

Seritan³

2013

CPSR

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“…9 Furthermore, it has been described that psychiatric symptoms, such as depression and anxiety, are often associated with fibromyalgia, 20,21 and interestingly, it has been shown that female premutation carriers have a distinctive neuropsychiatric profile with higher tendency to depression. 22,23 Taken together, the existence of these findings should be considered when offering genetic counseling for FXS, as they should be mentioned to premutation carriers. Although these disorders occur by a completely separate mechanism from FXS and affects different individuals, they are caused by defects in the same gene, therefore their study and characterization might help to better understand how the FMR1 gene works.…”

Section: Discussionmentioning

confidence: 99%

Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families

et al. 2009

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Within the past few years, there has been a significant change in identifying and characterizing the FMR1 premutation associated phenotypes. The premutation has been associated with elevated FMR1 mRNA levels and slight to moderate reductions in FMRP levels. Furthermore, it has been established that B20% of female premutation carriers present primary ovarian insufficiency (POI) and that fragile X-associated tremor/ataxia syndrome (FXTAS) occurs in one-third of all male premutation carriers older than 50 years. Besides POI and FXTAS, new disorders have recently been described among individuals (especially females) with the FMR1 premutation. Those pathologies include thyroid disease, hypertension, seizures, peripheral neuropathy, and fibromyalgia. However there are few reports related to FXTAS penetrance among female premutation carriers or regarding these disorders recently associated to the FMR1 premutation. Therefore, we have evaluated 398 fragile X syndrome (FXS) families in an attempt to provide an estimation of the premutation associated phenotypes penetrance. Our results show that signs of FXTAS are detected in 16.5% of female premutation carriers and in 45.5% of premutated males older than 50 years. Furthermore, among females with the FMR1 premutation, penetrance of POI, thyroid disease and chronic muscle pain is 18.6, 15.9 and 24.4%, respectively. The knowledge of this data might be useful for accurate genetic counselling as well as for a better characterization of the clinical phenotypes of FMR1 premutation carriers.

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“…For instance, Riddle andco-workers (1998) andHagerman (2002) described a group of premutation carriers with prominent ears and joint laxity; or with learning disabilities, attention deficit/hyperactivity disorder (ADHD), or difficulty with math (Riddle et al, 1998, reviewed in Hagerman & Hagerman 2004). In addition, some carriers have emotional problems, including anxiety, obsessional thinking, schizotypy, and/or depression Rodriguez-Revenga et al, 2008a). Such findings were observed to be more likely to occur in carriers with a lowered FMRP levels and particularly in those carrier females with larger CGG expansions (>100 repeats) .…”

Section: Fragile X Syndrome Premutation and Fxtas Identificationmentioning

confidence: 56%

Neuroimaging - Clinical Applications

Bright¹

2012

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Evidence of depressive symptoms in fragile-X syndrome premutated females

Abstract: Our findings reinforce the hypothesis of a pathogenic gene-brain-behavior mechanism in the premutation range.

Cited by 57 publications

References 13 publications

Postpartum Depression in Women with the FMR1 Premutation

Postpartum Depression in Women with the FMR1 Premutation

Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families

Neuroimaging - Clinical Applications

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