Speech Therapy

Can Rett Syndrome Affect Males?

There are a few disorders though not belonging to the class of autism spectrum disorders, exhibit the traits and symptoms of these disorders. Rett syndrome, a disorder mostly affecting females is one such neurological disorder. Females who usually suffer from this syndrome lose their verbal skills.

For long, this syndrome was thought not to affect males. But, a new study reveals otherwise.

The Background of Rett Syndrome: This syndrome which is caused due to a genetic flaw has been found to affect males despite no previous cases of this neurological disorder in the family.

  • Male foetus who present with this genetic flaw were known to die right after birth. The previous reason for not considering the occurrence of this disorder in males is this very reason.
  • As a matter of fact, there have only been 11 cases where boys were diagnosed of this syndrome. These boys exhibited a progressive neurological decline along with breathing abnormalities right after their birth.
  • Also, in only two cases was there any previous occurrence of the syndrome in the family while the rest’s families had no association with the disorder whatsoever.

Dr. Helen Leonard, the co-author of the research consisting of both US and Australian doctors suggests that the genetic disorder should be tested in baby boys if there are any neurological and breathing abnormalities after birth.
Can Males be Affected?: Normally, the notion of only females being affected with the syndrome does not allow the doctors to suggest a diagnosis in male children suffering from progressive encephalopathy which can be severe.

  • Also, in girls the symptoms of the syndrome present themselves within one year and doctors usually go for for a genetic test. Mothers of girls are also sometimes asked to undergo diagnosis during subsequent pregnancies.
  • Unfortunately, male children are spared from the test. In case, paediatricians notice any neurological abnormalities after birth along with breathing problems, it is suggested that they consider this diagnosis.
  • As part of the study, the doctors conducted a genetic test on a death male child who sadly died when aged only 14 months.

Almost, one out of a 10,000 to one out of a 23,000 females are affected by Rett syndrome. But, new studies have revealed that even males are susceptible to this disorder meaning the incidence of the disease could be even higher.

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