Autistic behavior in boys with fragile X syndrome: social approach and HPA-axis dysfunction

Abstract

The primary goal of this study was to examine environmental and neuroendocrine factors that convey increased risk for elevated autistic behavior in boys with Fragile X syndrome (FXS). This study involves three related analyses: (1) examination of multiple dimensions of social approach behaviors and how they vary over time, (2) investigation of mean levels and modulation of salivary cortisol levels in response to social interaction, and (3) examination of the relationship of social approach and autistic behaviors to salivary cortisol. Poor social approach and elevated baseline and regulation cortisol are discernible traits that distinguish boys with FXS and ASD from boys with FXS only and from typically developing boys. In addition, blunted cortisol change is associated with increased severity of autistic behaviors only within the FXS and ASD group. Boys with FXS and ASD have distinct behavioral and neuroendocrine profiles that differentiate them from those with FXS alone and typically developing boys.

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

“…Furthermore, the relationship between salivary cortisol and social approach behaviour during naturalistic social interactions has been explored in one study (Roberts et al, 2009). The method involved investigating social approach behaviour (physical approach, facial expressions and eye contact) with an experimenter when they were both unfamiliar (first minute of interaction) and familiar (during last hour of daylong assessment) to the child.…”

“…In mice, no robust differences in baseline cortisol levels were seen, though there was some evidence of elevated stress-related reactivity. In human studies, baseline differences were observed in several studies (Hessl et al 2002;Roberts et al, 2009), as well as some indications of reactivity differences, compared to TD children Hessl et al, 2002;Roberts et al, 2009), though such differences may be mediated by gender and degree of autism symptomatology. At present, specific conclusions about the role of cortisol levels in behaviour associated with FXS are difficult to draw due to the high levels of variability and lack of correspondence between studies.…”

“…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.…”

“…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.…”

Variabilidade do domínio KH-2 da proteína do retardo mental do X frágil (FMRP)

“…A presença da FMRP no córtex motor já foi descrita anteriormente e é condizente com sinais apresentados pelos animais KO e pacientes afetados pelas síndromes relacionadas a FMRP, SXF e FXTAS, que mostram a habilidade motora diminuída na ausência da FMRP. Pacientes com a SXF exibem comportamentos estereotipados típicos do autismo, assim como atraso no desenvolvimento do controle motor fino (LARGO; SCHINZEL, 1985;ROBERTS et al, 2009;ZINGEREVICH et al, 2009). Estes sintomas motores começam a se apresentar na infância (BARANEK et al, 2008).…”