Klinefelter syndrome in Australia
In a research conducted in Australia, it was found out that Klinefelter syndrome influenced the quality of life. The purpose of the study was to determine the psychosocial impact of the syndrome (Herlihy et al., 2011). Furthermore, it sought to assess factors influencing the quality of life.
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Eighty-seven men took part in the study recruited from various locations in Australia. Men with a karyotype containing more than one X chromosome and a single Y chromosme participated in the study where a self-administered questionnaire was used to collect data. The questions covered a wide array of topics that could be grouped into 6 broad categories. For example, it contained questions on health and self-perception. The outcomes were compared with those of the general male population of Australia and analyzed for significance.
The results indicate that the participants fared badly as compared to the general male population. This outcome is proved by the fact that participants had a RSE score of 19.1, when the general population’s score is 36.1. Age at diagnosis did not have any influence on outcomes as the male participants diagnosed in the childhood and those diagnosed later reported similar difficulties. Some factors like source of income and the available support network impacted on the psychosocial outcomes.
So, the age at diagnosis does not have a significant impact on outcome, which suggests that early diagnosis can benefit patients, patients’ families, and health-care workers. Effective management is closely related to awareness of other factors.
Depressive symptoms among individuals suffering from Klinefelter syndrome
This study was carried out to determine the prevalence of depressive symptoms among individuals suffering from Klinefelter syndrome (Turriff et al., 2011). The results indicate that depressive symptoms are common among individuals diagnosed with Klinefelter syndrome.
As for the method use in the mentioned study, an online survey targeting individuals aged between 14 and 75 years was implemented. 310 participants were recruited online based on self-reported XXY karyotype during the recruitment period. The survey was to be carried out only once. CES scale was applied to quantify the symptoms of the condition. Correlates of depressive symptoms were assessed as well. Perceived consequences were assessed by an illness perception questionnaire and perceived stigma was examined using perceived social stigmatization scale. Finally, with the help of coping checklist coping was assessed. The researchers applied SPSS software from IBM to analyze the data.
A score of 16 indicates a significant amount of negative symptoms. 68.8 percent of the study subjects had a score greater or equal to 16. The factors associated with depressive symptoms in the individuals included the use of emotion-focused coping mechanisms, perceived negative effects of the karyotype, perceived stigmatization, and a need to have children. All the correlates except the need to have children in the future had a p-value of 0.01. At the same time, the need to have children in the future had a p-value of 0.05.
In conclusion, the results show that individuals with Klinefelter syndrome may have a higher chance of suffering from depression. This may significantly affect their quality of life. The caring procedure of this group of individuals may require frequent screening for depressive symptoms. Such screening should naturally be followed by a proper referral of the patients. Routine evaluation of the individuals may also be required.
Klinefelter syndrome in Netherlands
This research was carried out in Netherlands. Its findings indicate that autism traits are common among individuals with Klinefelter syndrome. The objective of the study was to determine whether autism features in Klinefelter syndrome were caused by impaired cognitive flexibility (Rijna et al., 2012).
This was a case-control study with an intervention group comprised of 71 boys and men with Klinefelter syndrome. The control group included 61participants drawn from the general population. The study participants were recruited using various methods. For example, children were recruited through endocrinologists, pediatricians, postnatal follow up after prenatal diagnosis, and the Dutch Klinefelter association. Individuals who spoke Dutch and were between 6 and 60 years old were included. Individuals with a positive history of substance abuse, cognitive disabilities, and neurological problems were excluded. Neuropsychologists administered all the tests applying the assessment tools like Wisconsin card sorting test. Autism spectrum quotient was used to determine the presence of autism traits.
The results of the study show that autism traits are more often found in theindividuals with Klinefelter syndrome. Cognitive flexibility is significantly reduced in people with this syndrome. Difficulties in cognitive flexibility do not correlate with age, cognitive functioning, and testosterone supplementation. The Klinefelter group showed increased number of perseverative errors on the scale.
To sum up, according to the results Klinefelter syndrome could be associated with impaired mental flexibility. Autism traits increase as the cognitive flexibility declines. Furthermore, a decrease in cognitive flexibility could be indicative of abnormalities in certain crucial centers of the brain. This may be manifested through sluggish cognitive progresses. These findings may exert a significant impact on the diagnosis, treatment, and prevention of serious problems in people suffering from Klinefelter syndrome. The results may also shed light on the relationship between Attention Deficit Hyperactivity Disorder (ADHD) and Klinefelter syndrome.
Herlihy, A.S., McLachlan, R.I., Gillam, L., Cock, M.L., Collins, V., & Halliday, J.L. (2011). The psychosocial impact of Klinefelter syndrome and factors influencing quality of life. Genetics in Medicine, 13 (7), 632-642.
Rijna, S., Biermann, M., Bruining, H. & Swaab, H. (2012). Vulnerability for autism traits in boys and men with an extra X chromosome (47,XXY): The mediating role of cognitive flexibility. Journal of Psychiatric Research, 46 (2012), 1300-1306.
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Turriff, A., Levy, H., & Biesecker, B. (2011). Prevalence and Psychosocial Correlates of Depressive Symptoms among Adolescents and Adults with Klinefelter Syndrome. Genet Med, 13(11), 966–972.