<p>Jess Penhallow, a PhD student, discusses the importance of studying changes with age in genetic syndromes.</p>

Jess Penhallow, a PhD student, discusses the importance of studying changes with age in genetic syndromes.

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Key Fact
Everyone with Smith-Magenis syndrome is an individual.

Changes with Age in Smith-Magenis Syndrome


Physical Characteristics

There is some research to suggest that facial characteristics become more prominent with age making it easier for clinicians to easily diagnose individuals with Smith-Magenis syndrome.

 

Cognitive Characteristics

There has been some research to suggest that cognitive delays continue throughout adulthood however there are reports of adults having excellent long term memory. Overall patterns of strengths and weaknesses seem to stay broadly the same from childhood to adulthood.

 

Health-Related Issues

Individuals may also have hearing loss as they age and their eye-sight tends to get worse so it is important that individuals have regular hearing and eye tests. Furthermore dental problems continue through adulthood so it is also important that individuals have regular dental checkups. Weight gain can be an issue as individuals with Smith-Magenis syndrome become teenagers.

 

Behaviour and Mood

Typical behavioural characteristics that are observed in individuals as they age are stereotyped behaviour, mood instability, attentional disorders and anxiety. There are inconsistent accounts of whether challenging behaviour changes with age, some report improvements whereas others reports more severe behaviour. Behaviour may become more difficult to manage as an individual becomes bigger and stronger.

 

Puberty

There is limited research on development of puberty in male individuals with Smith-Magenis syndrome, however there is some research to suggest that females may have irregular menses and may reach puberty at an earlier age. 

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