Investigation of Phenotypes Associated with Mood and Anxiety Among Male and Female Fragile X Premutation Carriers

Hunter, Jessica Ezzell; Allen, Emily G.; Abramowitz, Ann; Rusin, Michele; Leslie, Mary; Novak, Gloria; Hamilton, Debra; Shubeck, Lisa; Charen, Krista; Sherman, Stephanie L.

doi:10.1007/s10519-008-9214-3

Cited by 64 publications

(59 citation statements)

References 39 publications

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“…48–52 Recent studies found a relationship between the number of CGG repeats and the prevalence 50 and severity 51 of depressive symptoms. The prevalence of major depressive disorder is high for women with a PM relative to the national average, with a higher than expected rate of first major depressive disorder episodes occurring before the birth of a child with FXS.…”

Section: Resultsmentioning

confidence: 99%

Implications of theFMR1Premutation for Children, Adolescents, Adults, and Their Families

Wheeler

Raspa

Hagerman³

et al. 2017

Pediatrics

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BACKGROUND AND OBJECTIVES Given the nature of FMR1 gene expansions, most biological mothers, and often multiple other family members of children with fragile X syndrome (FXS), will have a premutation, which may increase individual and family vulnerabilities. This article summarizes important gaps in knowledge and notes potential implications for pediatric providers with regard to developmental and medical risks for children and adolescents with an FMR1 premutation, including possible implications into adulthood. METHODS A structured electronic literature search was conducted on FMR1 pre- and full mutations, yielding a total of 306 articles examined. Of these, 116 focused primarily on the premutation and are included in this review. RESULTS Based on the literature review, 5 topic areas are discussed: genetics and epidemiology; phenotypic characteristics of individuals with the premutation; implications for carrier parents of children with FXS; implications for the extended family; and implications for pediatricians. CONCLUSIONS Although the premutation phenotype is typically less severe in clinical presentation than in FXS, premutation carriers are much more common and are therefore more likely to be seen in a typical pediatric practice. In addition, there is a wide range of medical, cognitive/developmental, and psychiatric associated features that individuals with a premutation are at increased risk for having, which underscores the importance of awareness on the part of pediatricians in identifying and monitoring premutation carriers and recognizing the impact this identification may have on family members.

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Section: Resultsmentioning

confidence: 99%

Implications of theFMR1Premutation for Children, Adolescents, Adults, and Their Families

Wheeler

Raspa

Hagerman³

et al. 2017

Pediatrics

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“…In fXPCs, there is higher prevalence of ADHD diagnoses in women (Hunter, Rohr, & Sherman, 2010) and boys (Farzin et al, 2006) and increased ADHD symptoms in men (Dorn, Mazzocco, & Hagerman, 1994) and boys (Aziz et al, 2003). Furthermore, self-reported inattention and impulsivity in female fXPCs is positively associated with CGG repeat length (Hunter et al, 2008a). Indicative of impaired cognitive inhibition, fXPCs report higher levels of obsessive-compulsive symptoms, which are positively associated with mRNA levels (Hessl et al, 2005)).…”

Section: Executive Function In Fxpcs Asymptomatic For Fxtasmentioning

confidence: 99%

Eye movements reveal impaired inhibitory control in adult male fragile X premutation carriers asymptomatic for FXTAS.

Wong¹,

Goodrich-Hunsaker²,

McLennan³

et al. 2014

Neuropsychology

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Objective: Fragile X premutation carriers (fXPCs) have an expansion of 55 —200 CGG repeats in the FMR1 gene. Male fXPCs are at risk for developing a neurodegenerative motor disorder (FXTAS) often accompanied by inhibitory control impairments, even in fXPCs without motor symptoms. Inhibitory control impairments might precede, and thus indicate elevated risk for motor impairment associated with FXTAS. We tested whether inhibitory impairments are observable in fXPCs by assessing oculomotor performance. Method: Participants were males aged 18–48 years asymptomatic for FXTAS. FXPCs (n = 21) and healthy age-matched controls (n = 22) performed four oculomotor tasks. In a Fixation task, participants fixated on a central cross and maintained gaze position when a peripheral stimulus appeared. In a Pursuit task, participants maintained gaze on a square moving at constant velocity. In a Prosaccade task, participants fixated on a central cross, then looked at a peripheral stimulus. An Antisaccade task was identical to the Prosaccade task, except participants looked in the direction opposite the stimulus. Inhibitory cost was the difference in saccade latency between the Antisaccade and Prosaccade tasks. Results: Relative to controls, fXPCs had longer saccade latency in the Antisaccade task. In fXPCs, inhibitory cost was positively associated with vermis area in lobules VI-VII. Conclusion: Antisaccades require inhibitory control to inhibit reflexive eye movements. We found that eye movements are sensitive to impaired inhibitory control in fXPCs asymptomatic for FXTAS. Thus, eye movements may be useful in assessing FXTAS risk or disease progression.

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“…A recent large family survey of children with the full mutation and premutation, in which parents were simply asked whether their child had been diagnosed with or been treated for a range of conditions, showed that 33.3% of 57 males and 35.6% of 119 females with the premutation were identified as having significant anxiety, compared to 8.8% of males and 15.3% of females with normal FMR1 alleles matched for age and family income (28). However, it should be noted that Hunter and colleagues (29) examined mood and anxiety in 119 males and 446 females age 18-50 ascertained from families with a history of FXS and from the general population. Repeat length was not associated with anxiety, but was marginally associated with depression and negative affect in males and negative affect only in females.…”

Section: Introductionmentioning

confidence: 99%

Anxiety disorders in fragile X premutation carriers: Preliminary characterization of probands and non-probands

Cordeiro

Abucayan

Hagerman

et al. 2015

IRDR

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Investigation of Phenotypes Associated with Mood and Anxiety Among Male and Female Fragile X Premutation Carriers

Cited by 64 publications

References 39 publications

Implications of theFMR1Premutation for Children, Adolescents, Adults, and Their Families

Implications of theFMR1Premutation for Children, Adolescents, Adults, and Their Families

Eye movements reveal impaired inhibitory control in adult male fragile X premutation carriers asymptomatic for FXTAS.

Anxiety disorders in fragile X premutation carriers: Preliminary characterization of probands and non-probands

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