Change in the Behavioral Phenotype of Adolescents and Adults with FXS: Role of the Family Environment

Smith, Leann E.; Hong, Jinkuk; Greenberg, Jan S.; Mailick, Marsha R.

doi:10.1007/s10803-016-2714-8

Cited by 23 publications

(26 citation statements)

References 53 publications

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“…Further studies indeed support the significance of environmental factors in FXS (Dyer-Friedman et al, 2002 ; Kuo et al, 2002 ; Glaser et al, 2003 ): in particular maternal warmth and responsivity were demonstrated to ameliorate maladaptive as well as autistic behaviors, whereas maternal depression and criticism were indicated to increase FXS symptoms in children (Greenberg et al, 2012 ; Robinson et al, 2016 ; Smith et al, 2016 ). Contrary to cognitive deficits, autistic behaviors display no correlation with residual FMRP expression (Glaser et al, 2003 ; Pretto et al, 2014 ).…”

Section: The Fragile X Syndrome — Of Menmentioning

confidence: 91%

“…Similar to humans, marmosets live in extended family groups, pair-bond and care for their offspring in a cooperative manner (Digby and Barreto, 1993 ; Sousa et al, 2005 ; Birnie et al, 2013 ; Yamamoto et al, 2014 ). Since parental care and in particular maternal warmth are known to influence FXS symptoms in children (Dyer-Friedman et al, 2002 ; Kuo et al, 2002 ; Glaser et al, 2003 ; Greenberg et al, 2012 ; Robinson et al, 2016 ; Smith et al, 2016 ), the latter could be useful to further investigate the role of the social environment for FXS.…”

Section: From Mice To Menmentioning

confidence: 99%

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Of Men and Mice: Modeling the Fragile X Syndrome

Dahlhaus

2018

Front. Mol. Neurosci.

112

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The Fragile X Syndrome (FXS) is one of the most common forms of inherited intellectual disability in all human societies. Caused by the transcriptional silencing of a single gene, the fragile x mental retardation gene FMR1, FXS is characterized by a variety of symptoms, which range from mental disabilities to autism and epilepsy. More than 20 years ago, a first animal model was described, the Fmr1 knock-out mouse. Several other models have been developed since then, including conditional knock-out mice, knock-out rats, a zebrafish and a drosophila model. Using these model systems, various targets for potential pharmaceutical treatments have been identified and many treatments have been shown to be efficient in preclinical studies. However, all attempts to turn these findings into a therapy for patients have failed thus far. In this review, I will discuss underlying difficulties and address potential alternatives for our future research.

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Section: The Fragile X Syndrome — Of Menmentioning

confidence: 91%

Section: From Mice To Menmentioning

confidence: 99%

Of Men and Mice: Modeling the Fragile X Syndrome

Dahlhaus

2018

Front. Mol. Neurosci.

112

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“…Participants in the present study consisted of 100 premutation carrier mothers of adolescents and adults with FXS who have been followed longitudinally as part of a larger program of research involving four rounds of data collection spanning nearly a decade ( Mailick et al, 2014a ; Smith et al, 2016 ). Mothers were recruited through local media advertisements, newsletters of national disability organizations, and brochures and postings in clinics, disability listservs, and a university research registry.…”

Section: Methodsmentioning

confidence: 99%

Health Profiles of Mosaic Versus Non-mosaic FMR1 Premutation Carrier Mothers of Children With Fragile X Syndrome

et al. 2018

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The FMR1 premutation is of increasing interest to the FXS community, as questions about a primary premutation phenotype warrant research attention. 100 FMR1 premutation carrier mothers (mean age = 58; 67–138 CGG repeats) of adults with fragile X syndrome were studied with respect to their physical and mental health, motor, and neurocognitive characteristics. We explored the correlates of CGG repeat mosaicism in women with expanded alleles. Mothers provided buccal swabs from which DNA was extracted and the FMR1 CGG genotyping was performed (Amplidex Kit, Asuragen). Mothers were categorized into three groups: Group 1: premutation non-mosaic (n = 45); Group 2: premutation mosaic (n = 41), and Group 3: premutation/full mutation mosaic (n = 14). Group 2 mothers had at least two populations of cells with different allele sizes in the premutation range besides their major expanded allele. Group 3 mothers had a very small population of cells in the full mutation range (>200 CGGs) in addition to one or multiple populations of cells with different allele sizes in the premutation range. Machine learning (random forest) was used to identify symptoms and conditions that correctly classified mothers with respect to mosaicism; follow-up comparisons were made to characterize the three groups. In categorizing mosaicism, the random forest yielded significantly better classification than random classification, with overall area under the receiver operating characteristic curve (AUROC) of 0.737. Among the most important symptoms and conditions that contributed to the classification were anxiety, menopause symptoms, executive functioning limitations, and difficulty walking several blocks, with the women who had full mutation mosaicism (Group 3) unexpectedly having better health. Although only 14 premutation carrier mothers in the present sample also had a small population of full mutation cells, their profile of comparatively better health, mental health, and executive functioning was unexpected. This preliminary finding should prompt additional research on larger numbers of participants with more extensive phenotyping to confirm the clinical correlates of low-level full mutation mosaicism in premutation carriers and to probe possible mechanisms.

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“…In mothers of children with FXS, there is also evidence for higher levels of expressed emotion, reflected in higher rates of criticism towards, or over-involvement, with the child with FXS, as measured by a procedure termed the Five-Minute Speech Sample (FMSS; Smith, Hong, Greenburg, & Mailick, 2016). High levels of expressed emotion reflect a negative emotional climate within the parent–child relationship (Greenberg et al, 2012).…”

Section: Introductionmentioning

confidence: 99%

Distance delivery of a parent-implemented language intervention for young boys with fragile X syndrome

Bullard

McDuffie

Abbeduto

2017

Autism & Developmental Language Impairments

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Background In addition to significant cognitive delays, boys with fragile X syndrome display phenotypic characteristics that include delays in language, inattention, social anxiety, and escape-maintained challenging behaviors. Despite these challenges, families affected by fragile X syndrome often have limited access to center-based intervention programs. Methods The present study utilized a multiple baseline design across participants to examine the preliminary effectiveness of a 12-week, parent-implemented spoken language intervention for three 5- to 7-year-old boys with fragile X syndrome. The goal of the intervention was to teach the biological mothers of each boy to use a set of verbally responsive language support strategies while participating in shared book reading activities with her child. All aspects of the intervention, including pre- and post-treatment measures, were delivered into the family’s home via distance video teleconferencing. Results Results from this study provide preliminary support for the efficacy of this parent-implemented language intervention approach by demonstrating generalized improvements in both targeted maternal strategy use and measures of child spoken language. Conclusions The present study expands upon prior language intervention research utilizing distance delivery of services for families affected by fragile X syndrome. Additionally, the study provides early support for the feasibility of collecting pre- and post-treatment assessments at a distance.

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Change in the Behavioral Phenotype of Adolescents and Adults with FXS: Role of the Family Environment

Cited by 23 publications

References 53 publications

Of Men and Mice: Modeling the Fragile X Syndrome

Of Men and Mice: Modeling the Fragile X Syndrome

Health Profiles of Mosaic Versus Non-mosaic FMR1 Premutation Carrier Mothers of Children With Fragile X Syndrome

Distance delivery of a parent-implemented language intervention for young boys with fragile X syndrome

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