Premutation Allele Combined with Caregiver Distress Factor Increase the Risk of Depression in Fragile X Carriers: Indonesia Setting

Abstract

This study was done to determine the risk of anxiety and depression symptoms among fragile X premutation carriers. Hamilton anxiety rating scale (HARS) and Hamilton depression rating scale (HDRS) was administered by trained physicians to measure the severity of anxiety and depression symptoms, respectively. Caregiver distress factors which directly contribute to caregiver burden in particular degree of relationship with the child, number of FXS child, child institutional/educational status, number of hours spent providing care per day, and the degree of illness severity were documented. Thirty-one fragile X carriers (27 females, 4 males), aged 32-77 years participated in this study. Only 3.2% had anxiety symptoms, while depression symptoms were identified in 35.5% carriers. Number of hours of providing care/day were significantly associated with depression symptoms (p<0.001). The prevalence ratio (PR) of depression among individuals who had a distress score above cutoff was 3.2 (95% CI= 1.2 to 8.5) compared to those who had a distress score below cutoff with p=0.02. Fragile X premutation carriers are at a greater risk to develop depression symptoms related to the hours spent in caring for children with fragile X syndrome (FXS).

Fragile X premutation carrier screening in Pakistani preconception women in primary care consultation

“…Moreover, PM carrier women were at significantly increased risks for various neuropsychiatric features such as anxiety, sleep disturbances, aggression, difficulty in concentrating, hyperreactivity and language issues than non-PM carrier women as these features were present at high frequencies in PM carriers in this study. Previous studies have also reported significantly higher rates of sleep disturbances [ 52 , 53 ], depression, stress and anxiety [ 31 , 54 ], language issues [ 16 , 55 ], attention deficits [ 16 , 48 ], and memory impairment [ 56 , 57 ] in PM carriers with or without diagnosis of Fragile X associated disorders compared with controls. Hartley et al [ 58 ] in a study noted predominantly aggression, inattentive, behavior problems and irritability, whereas Chonchaiya et al [ 59 ] observed high prevalence of balance problem, memory loss, dizziness among PM carriers with history of FXD.…”

Surveillance and prevalence of fragile X syndrome in Indonesia

“…Management of individuals with FXS-associated disorders comprises long-term health supervision, starting from a young age through adulthood. In addition, to identifying those with FMR1 premutation-associated disorders such as Fragile-X associated tremor/ataxia syndrome (FXTAS) at a later age, Fragile-X associated primary ovarian insufficiency (FXPOI) among female carriers and the risk of having fragile X-associated neuropsychiatric disorders (FXAND) at all ages (26,27). To date, in Indonesia, there are no specific clinical guidelines or recommendations regarding individuals with FXS, premutation disorders or ID in general.…”