scholarly journals Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families

2009 ◽  
Vol 17 (10) ◽  
pp. 1359-1362 ◽  
Author(s):  
Laia Rodriguez-Revenga ◽  
Irene Madrigal ◽  
Javier Pagonabarraga ◽  
Mar Xunclà ◽  
Celia Badenas ◽  
...  
2018 ◽  
Vol 48 (3) ◽  
pp. 412-422
Author(s):  
Bridgette L. Tonnsen ◽  
Anne C. Wheeler ◽  
Lisa R. Hamrick ◽  
Jane E. Roberts

2010 ◽  
Vol 128 (5) ◽  
pp. 539-548 ◽  
Author(s):  
Weerasak Chonchaiya ◽  
Flora Tassone ◽  
Paul Ashwood ◽  
David Hessl ◽  
Andrea Schneider ◽  
...  

2021 ◽  
pp. 105266
Author(s):  
Jinkuk Hong ◽  
Amita Kapoor ◽  
Leann Smith DaWalt ◽  
Nell Maltman ◽  
Bryan Kim ◽  
...  

2021 ◽  
Vol 42 (04) ◽  
pp. 277-286
Author(s):  
Katherine Bangert ◽  
Carly Moser ◽  
Laura Friedman ◽  
Jessica Klusek

AbstractFragile X syndrome (FXS) is a genetic disorder caused by changes of the FMR1 gene that is passed along among families. A range of developmental processes may be impacted with wide variation in abilities across individuals with FXS. Mothers of children with FXS are often carriers of a “premutation” expansion on the FMR1 gene, which is associated with its own clinical phenotype. These maternal features may increase individual and family vulnerabilities, including increased risk for depression and anxiety disorders and difficulties in social and cognitive ability. These characteristics may worsen with age, and potentially interact with a child's challenging behaviors and with family dynamics. Thus, families of children with FXS may experience unique challenges related to genetic risk, manifested across both children and parents, that should be considered in therapeutic planning to optimize outcomes for children and their families. In this article, we review core features of the FMR1 premutation as expressed in mothers and aspects of the family environment that interface with developmental outcomes of children with FXS. Recommendations for family-centered support services are discussed.


2018 ◽  
Vol 9 ◽  
Author(s):  
Marsha R. Mailick ◽  
Arezoo Movaghar ◽  
Jinkuk Hong ◽  
Jan S. Greenberg ◽  
Leann S. DaWalt ◽  
...  

2011 ◽  
Vol 36 (1) ◽  
pp. 53-61 ◽  
Author(s):  
Sigan L. Hartley ◽  
Marsha Mailick Seltzer ◽  
Jinkuk Hong ◽  
Jan S. Greenberg ◽  
Leann Smith ◽  
...  

Mothers of adolescents and adults with fragile X syndrome (FXS) are faced with high levels of parenting stress. The extent to which mothers are negatively impacted by this stress, however, may be influenced by their own genetic status. The present study uses a diathesis-stress model to examine the ways in which a genetic vulnerability in mothers with the premutation of the FMR1 gene interacts with child-related environmental stress to predict their morning cortisol levels. Seventy-six mothers of an adolescent or adult with FXS participated in an 8-day telephone diary study in which they reported on the behavior problems of their son or daughter with FXS each day. We analyzed salivary cortisol collected from mothers at awakening and 30 minutes after awakening on 4 of these days. The results indicated that mothers with greater genetic vulnerability had a lower level of cortisol on mornings following days when their son or daughter with FXS manifested more episodes of behavior problems, whereas mothers with less genetic risk evinced the opposite pattern of higher morning cortisol in response to their child’s behavior problems. This finding contributes to our understanding of gene-by-environment interactions and highlights the importance of interventions to alleviate parenting stress in mothers raising children with FXS.


2020 ◽  
Vol 139 ◽  
pp. 105511 ◽  
Author(s):  
Jessica Klusek ◽  
Jinkuk Hong ◽  
Audra Sterling ◽  
Elizabeth Berry-Kravis ◽  
Marsha R. Mailick

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