Abstract
Research on women with the fragile-X premutation (FX-p) has been underrepresented within the field of behavioural phenotypes. To understand whether the FX-p confers risk for autistic traits, depression and anxiety, independent of maternal status. In study 1, mothers of children with fragile-X syndrome (M-FXp; n = 51, mean age 43 years (s.d. = 5.80)) were compared with mothers of autistic children (M-ASD; n = 59, mean age 42 (s.d. = 5.80)), mothers of children with Smith-Magenis syndrome (M-SMS; n = 27, mean age 39 (s.d. = 7.20)) and mothers of typically developing children (M-TD; n = 44, mean age 40 (s.d. = 4.90)). In study 2, the M-FXp group were compared with non-mothers with the FX-p (NM-FXp; n = 17, mean age 32 (s.d. = 9.20)), typically developed non-mothers (NM-TD; n = 28, mean age 31 (s.d. = 6.80)) and the M-TD group. All participants completed an online survey, including measures of IQ, autistic traits, anxiety, depression and positive affect. In study 1: the M-FXp group reported more autistic traits than the M-TD group (P < 0.05, η2 = 0.046). Anxiety and parental stress were elevated in the M-FXp, M-SMS and M-ASD groups relative to the M-TD group (all P ≤ 0.003, η2 = 0.079-0.322). In study 2: a main effect of premutation status indicated that women with the FX-p report elevated autistic traits and anxiety (P ≤ 0.007, η2 = 0.055-0.060); this did not interact with maternal status. The findings indicate that women with the FX-p show an increased risk for autistic traits and anxiety. This risk is specific to the presence of the FX-p and is not fully accounted for by maternal status or the stress of caring for children with neurodevelopmental disorders.
Highlights
Research on women with the fragile-X premutation (FX-p) has been underrepresented within the field of behavioural phenotypes
The findings indicate that women with the Fragile-X premutation carriers (FX-p) show an increased risk for autistic traits and anxiety
This risk is specific to the presence of the FX-p and is not fully accounted for by maternal status or the stress of caring for children with neurodevelopmental disorders
Summary
Fragile-X syndrome (FXS) is the most common cause of inherited intellectual disability and the most common identifiable cause of autism.[1,2] Instigated by an expansion of a trinucleotide (CGG) repeat on the FMR1 gene of the X chromosome, FXS results in reduced production of the FMRP protein. To improve awareness of mental health challenges faced by individuals with the FX-p, Hagerman and colleagues[14] proposed the term fragile X-associated neuropsychiatric disorders. Elevated levels of stress and affective disorder are well documented within the broader intellectual disability and neurodevelopmental disorder literature.[16] Further, studies have reported that mothers of children with FXS show more signs of compromised psychological well-being than mothers of children with Down syndrome[17] and a strong association between child behaviour and maternal stress and depression has been found in this population.[18] The way in which the elevated autistic traits in mothers with the FX-p might contribute to, and interact with, this risk pathway is not known
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