Self-Injurious Behavior and Fragile X Syndrome: Findings From the National Fragile X Survey

Symons, Frank J.; Byiers, Breanne J.; Raspa, Melissa; Bishop, Ellen; Bailey, Donald B.

doi:10.1352/1944-7558-115.6.473

Cited by 77 publications

(77 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…However, it is of note that the rates of SIB and aggression reported in this study are far higher than rates cited in previous research (e.g. Bailey et al, 2008;Symons et al, 2010). These differing results may be explained by the age range of the individuals assessed by each respective study.…”

Section: Discussioncontrasting

confidence: 82%

“…Bailey, Raspa, Olmsted, and Holiday (2008) estimate that 38% of males and 14% of females with the FMR1 full mutation engaged in aggressive behavior. A nationwide study conducted by Symons et al (2010) found that 41% of males and 16% of females with the FMR1 full mutation engaged in SIB. This study also found that the onset of SIB occurred around the age of three years, with no gender differences found regarding the age of onset reported.…”

mentioning

confidence: 99%

See 1 more Smart Citation

An analysis of challenging behavior, comorbid psychopathology, and Attention-Deficit/Hyperactivity Disorder in Fragile X Syndrome

Newman

Leader

Chen

et al. 2015

Research in Developmental Disabilities

View full text Add to dashboard Cite

CitationAn analysis of challenging behavior, comorbid psychopathology, and Attention-Deficit/Hyperactivity Disorder in Fragile X Syndrome. 2015, 38:7- Results revealed high levels of challenging behavior and AD/HD symptoms within the sample, with some participants exhibiting symptoms of comorbid psychopathology. Further analysis revealed that challenging behavior and comorbid psychopathology were positively correlated, with stereotypy correlating most strongly with comorbid psychopathology. In addition, ASD was found to predict challenging behavior, and gender was found to predict AD/HD symptoms. The implications of these findings are discussed.

show abstract

Section: Discussioncontrasting

confidence: 82%

mentioning

confidence: 99%

An analysis of challenging behavior, comorbid psychopathology, and Attention-Deficit/Hyperactivity Disorder in Fragile X Syndrome

Newman

Leader

Chen

et al. 2015

Research in Developmental Disabilities

View full text Add to dashboard Cite

show abstract

“…The severity of the manifestation of the syndrome is variable, but individuals with FXS typically show marked behavioural features including deficits in attention, language and IQ; hyperactivity; anxiety; self-injury (particularly hand-biting); aggression; hyperarousal; stereotypies; and social difficulties, including gaze avoidance (Symons, Byiers, Raspa, Bishop & Bailey, 2010;Lachiewicz, et al, 1994;Bailey, Raspa, Olmsted & Holiday, 2008). The presentation of the FXS is quantitatively gender The hypothalamic-pituitary adrenal (HPA) axis is one of the body s main stress effector systems and is a circuit of interest in Fragile X research.…”

Section: Resultsmentioning

confidence: 99%

Hypothalamic-pituitary-adrenal axis function in Fragile X Syndrome and its relationship to behaviour: A systematic review

Hardiman

Bratt

2016

Physiology & Behavior

View full text Add to dashboard Cite

Fragile X Syndrome (FXS) is characterised by features including anxiety and autistic-like behaviour, which led to early hypotheses that aberrant physiological arousal may underlie the behavioural phenotype. In line with this, several lines of evidence suggest that the HypothalamicPituitary-Adrenal (HPA) axis may be altered in the syndrome. This review collates evidence to determine the nature of HPA axis baseline activity and reactivity (as measured by glucocorticoid levels) differences in FXS, and its relationship to behaviour. Through a search electronic databases, 15 papers were identified which provided data on humans with FXS or the FMR1 knockout mouse model. The findings across studies are mixed, though trends in the findings can be seen, including elevations in cortisol levels, particularly in males. Preliminary findings also highlight associations between cortisol levels and key behaviours associated with the syndrome, such as gaze avoidance. Areas for future research are discussed. Many thanks to the editor and to the reviewers for taking the time to kindly re-review the manuscript and provide useful feedback. I have addressed the issues raised and made amendments, as detailed individually below, using tracked changes:As requested, I have re-structured the article to align to the review questions. I have, however, addressed gender differences according to each aspect of the cortisol release (baseline activity, magnitude/ duration of response, for humans and animals) following the discussion on that specific topic, and clearly marked this with sub-headings. However, I hope that I have now better highlighted the themes in gender differences observed, and have included a separate table on this issue, as requested.When referring to each study in the text, I have briefly stated how many individuals were involved and what the ages of the individuals. I have done this for the studies with human participants, as from drafting this for the animal studies (which are addressed often is less detail in the text) this became very cumbersome to read. However, the animal results are presented directly alongside the sample sizes in Table 1, which I hope will make this interpretation more simple.On p15 we mention the findings of Roberts et al (2009) in relation to the magnitude of cortisol responses. The authors of this study split their analyses according to two groups: those individuals with FXS who met the criteria for autism, and those who did not. The reviewer requested that this discussion be moved to the section on cortisol and behaviour. Given the paucity of studies discussing the magnitude of cortisol responses in this group, I have proposed that we leave this study here (as there is no option to present the results without referring to the grouping according to autism symptomatology) but to note that a further discussion on the topic is included later in the manuscript. Please do let me know if this is acceptable.The first paragraph on page 17 was noted to be out of place. I have now clarified the int...

show abstract

“…These problem behaviors are especially detrimental to family functioning as they can significantly impede an individual's ability to participate in daily activities. Self-injurious behavior typically appears fairly early in development; onset for most individuals (both male and female) occurs at 1-3 years of age [24]. Aggression typically occurs later, mostly during the pubescent and postpubescent period [25].…”

Section: Cognitive Behavioral and Language Features Of Fxsmentioning

confidence: 99%

Therapeutic Strategies in Fragile X Syndrome: From Bench to Bedside and Back

et al. 2015

View full text Add to dashboard Cite

Fragile X syndrome (FXS), an inherited intellectual disability often associated with autism, is caused by the loss of expression of the fragile X mental retardation protein. Tremendous progress in basic, preclinical, and translational clinical research has elucidated a variety of molecular-, cellular-, and system-level defects in FXS. This has led to the development of several promising therapeutic strategies, some of which have been tested in larger-scale controlled clinical trials. Here, we will summarize recent advances in understanding molecular functions of fragile X mental retardation protein beyond the well-known role as an mRNAbinding protein, and will describe current developments and emerging limitations in the use of the FXS mouse model as a preclinical tool to identify therapeutic targets. We will review the results of recent clinical trials conducted in FXS that were based on some of the preclinical findings, and discuss how the observed outcomes and obstacles will inform future therapy development in FXS and other autism spectrum disorders.Key Words Fragile X syndrome . FMRP . mRNA translation . clinical trials . biomarkers . language development Fragile X syndrome (FXS) is one of the first single gene disorders manifesting features of autism spectrum disorder (ASD) in which extensive study of the neurobiology and synaptic mechanisms of disease in cellular and animal models has been possible. The enormous progress in basic and preclinical and clinical translational work in FXS in the last several decades has allowed FXS to emerge as an important model to illustrate successes and hurdles in the development of future targeted treatments for autism and related developmental disorders. FXS is the most common known genetic cause of intellectual disability and ASD, with an estimated frequency of about 1 in 4000-5000 [1]. The disorder affects all ethnic groups worldwide. Genetics and Phenotype of FXSFXS is one of the fragile X-associated disorders (FXDs), all of which arise from a trinucleotide repeat (CGG) expansion mutation in the promoter region of FMR1. The CGG sequence is transcribed into the 5' untranslated region of FMR1 mRNA and thus length of the repeat sequence does not affect the sequence of the protein product of FMR1 [fragile X mental retardation protein (FMRP)] [2]. Small expansions in the gene (55-200 CGG repeats), termed the Bpremutation^, occur in about 1 in 430-468 males and 1 in 151-209 females in the USA [3,4], and is associated with risk for fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency. Although the premutation is transcribed and translated to give FMRP, toxicity in fragile X-associated tremor/ataxia

show abstract

Self-Injurious Behavior and Fragile X Syndrome: Findings From the National Fragile X Survey

Cited by 77 publications

References 13 publications

An analysis of challenging behavior, comorbid psychopathology, and Attention-Deficit/Hyperactivity Disorder in Fragile X Syndrome

An analysis of challenging behavior, comorbid psychopathology, and Attention-Deficit/Hyperactivity Disorder in Fragile X Syndrome

Hypothalamic-pituitary-adrenal axis function in Fragile X Syndrome and its relationship to behaviour: A systematic review

Therapeutic Strategies in Fragile X Syndrome: From Bench to Bedside and Back

Contact Info

Product

Resources

About