Klinefelter Syndrome

Klinefelter Syndrome

About Klinefelter Syndrome

Klinefelter Syndrome is a neurogenetic disorder that occurs exclusively in males. It is characterised by the possession of an additional X chromosome, resulting in a sex chromosome trisomy of XXY. With a prevalence rate of about 1 in 650 males, it is the most common chromosomal disorder in males. It is typically first detected through hormone testing, and along with an assessment of physical symptoms, can be diagnosed through a karyotype analysis, where the extra X chromosome can be detected.

The syndrome often goes undiagnosed in childhood due to it not exhibiting obvious symptoms for many affected individuals. However, as they go through puberty, physical symptoms emerge, such as the development of breast tissue and lack of facial and body hair. Affected individuals often do not produce enough testosterone (hypogonadism). Even after testosterone therapy is administered, most patients have underdeveloped testicles. During adulthood, patients face infertility problems, which is often when the disorder is diagnosed.


Cognitive issues associated with Klinefelter Syndrome

Cognitive issues related to Klinefelter Syndrome can often be attributed to abnormal brain structure and functioning in affected individuals. Neuroimaging research has linked frontal lobe processing deficits to executive functioning impairments, which includes a suite of skills such as emotional regulation, concentration, and working memory. These skills usually develop with age and are essential in academic and school settings, which may explain why learning difficulties are the most commonly observed cognitive problems in individuals with Klinefelter Syndrome. As a result, patients perform poorly on IQ assessments, though their results usually still fall within the range of normal functioning.

In their day-to-day life, these executive functioning problems may be externalised through reduced inhibition and short attention spans. In severe cases, the inability to inhibit socially and situationally unacceptable behaviour can also lead to aggressive thoughts and behaviours. Research has also identified that visuo-spatial processing deficits in affected individuals have more profound implications in impairing their ability to process facial expressions, particularly in interpreting complex and emotional expressions.

Studies have also estimated that around 10% of patients also have Autism Spectrum Disorder (ASD), higher than the 6% prevalence rate in the general Australian population. One defining characteristic of ASD is its difficulty in interpreting social cues, which may explain the abovementioned visuo-spatial processing deficits for some individuals.

Treatment for Klinefelter Syndrome

(1) Learning support if learning issues.

(2) Treatment of attention issues including neurofeedback and cognitive training.

(3) Psychological management for emotional and behavioural issues if present.

(4) Orthoptic vision therapy to improve visual-spatial issues if present.

(5) Social skill training if social issues present