Social behavior and cortisol reactivity in children with fragile X syndrome

Abstract

Results of the study suggest a unique relation between abnormal gaze behavior and L-HPA mediated stress reactivity in FXS.

Altered hypothalamus–pituitary–adrenal gland axis regulation in the expanded CGG-repeat mouse model for fragile X-associated tremor/ataxia syndrome

“…Fragile X individuals (Hessl et al, 2002;Hessl et al, 2006), as well as Fmr1 KO mice (Markham et al, 2006), have also been shown to have an exaggerated stress response.…”

“…Children with the fragile X full mutation have elevated cortisol levels which are associated with severity of behavioral problems (Hessl et al, 2002;Hessl et al, 2006). Both fragile X patients and Fmr1 KO mice have a delayed return to baseline glucocorticoid levels, which was explained by the normal binding of GR mRNA to FMRP (Miyashiro et al, 2003).…”

Noncomprehension Signaling in Males and Females With Fragile X Syndrome

“…Finally, a number of behavioral difficulties have been noted. For example, social anxiety and/or social avoidance are observed in nearly all individuals with FXS (e.g., Budimirovic et al, 2006;Hall, DeBernardis, & Reiss, 2006;Hessl, Glaser, Dyer-Friedman, & Reiss, 2006;Roberts, Weisenfeld, Hatton, Heath, & Kaufmann, 2007). In addition, symptoms such as gaze avoidance, inattention, hyperactivity, and hyperarousal are commonly associated with FXS (e.g., Chromik et al, 2015;Cornish, Sudhalter, & Turk, 2004;Tonnsen, Grefer, Hatton, & Roberts, 2015;Wisbeck et al, 2000).…”

Oral Ascorbic Acid and Alpha-Tocopherol to Reduce Behavioural Problems in Young Patients Affected of Fragile X Syndrome: A Randomized, Double-Blind, Placebo-Controlled Phase II Pilot Trial

“…Adrenal activity in the postnatal period is essential for normal development of the HPA axis. There is evidence that FraX is associated with alterations in the action of the HPA axis (26,27). Recently, abnormalities in glucocorticoids secretion in FraX individuals and in the FraX experimental model, Fmr1-knockout mice, have been reported (28,29).…”

“…Neuronal loss and the excess of cortisol may be related to hyperactivation of glucocorticoid receptors in the hippocampus and other brain areas such as amygdala and cortex (60). The long lasting activation of glucocorticoid receptors during development is known to affect the proliferation of neuronal precursors and increase the activation of glial cells, such as astrocytes (61). Furthermore, an altered adrenal secretion can produce an imbalance in brain oxidative stress that will lead to lipid and protein oxidation in the cell membranes.…”