‘Trigger’ Times for Diagnosis

The five most common times for diagnosis


During pregnancy, if screening was carried out for Down’s Syndrome etc. the extra chromosome may be discovered.


Pre-school, if the child has a language delay or disorder. This is the most common problem for children. Speech therapy can make a considerable difference. As they are visual thinkers, diagrams, charts and colours will make life easier.

Before puberty

During schooling, if the youngster is having difficulties either socially or academically. Often youngsters become frustrated because they find it difficult to express themselves and have problems processing information. Everything seems to take longer and they are often perceived as being stupid and lazy – when they know they are neither!

They are visual thinkers so diagrams, charts, colours and written instructions will make life easier.


Young adults are likely to become aware that their genital area is not developing in the same way as their peers. There might be some breast development and  puberty may be slightly delayed. Social awkwardness may become a problem and they may find it difficult to relate to their peers. Libido may be low and various behaviour issues might become apparent as they struggle to ‘fit in’. They are usually immature for their years and can be very vulnerable.


Many cases of KS are diagnosed following infertility investigations. This can be a very difficult time and often very little support or even information is offered.

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