Thursday, December 20, 2007

Angelman syndrome - Colin Farrell's four-year-old son has it

This is one of two syndromes (Angelman and Prader-Willi) which have different presentations depending on which parent - the father or the mother had the defective genes. That means, we can know whether Mr Colin Farell had the defective genes or the mother of the boy.


Angelman syndrome comes from defective maternal chromosome 15, so, it was from the mother. And, we can also conclude that Colin Farell's son's children will not have Angelman syndrome but rather has a high chance (25%) of getting Prader Willi syndrome.

Angelman syndrome (AS) is a rare neuro-genetic disorder named after a British pediatrician, Dr. Harry Angelman, who first described the syndrome in 1965. AS is characterised by intellectual and developmental delay, speech impediment, sleep disturbance, unstable jerky gait, seizures, hand flapping movements, frequent laughter/smiling and usually a happy demeanour. AS is a classic example of genetic imprinting caused by deletion or inactivation of critical genes on the maternally inherited chromosome 15.


The sister syndrome is called Prader-Willi syndrome, and is caused by loss of paternal genes.

An older, alternative term for AS, happy puppet syndrome, is generally considered pejorative and stigmatizing so it is no longer used, though it remains useful as a diagnostic heuristic.


Colin Farrell said Tuesday that his 4-year-old son James, who has a rare neuro-genetic disorder called Angelman Syndrome, is making progress – and that father and son will be together at the holidays.

The actor, 31, told PEOPLE at a New York screening of his film Cassandra's Dream that James's progress is "good" and stressed that the Angelman is a condition, "not a disease."

With the holidays coming up, Farrell says he's looking forward to some bonding time with James. "Yeah, absolutely," he said. "All the family will be together. What are we going to do? Nothing. The usual – watch movies, eat food ... take it easy."

Farrell shares custody of James with ex-girlfriend Kim Bordenave, the boy's mother.

One sign that Colin Farrell may be mellowing out: He hit Las Vegas this weekend, but avoided the city's famed nightlife.

Instead, the Irish actor, 31, spent his time with his girlfriend of six months, Muireann McDonnell, reportedly a 22-year-old student from Dublin.

Farrell and McDonnell were spotted smooching in their hotel pool on Friday, and dined that night at Morton's steakhouse. The couple also caught the Cirque du Soleil shows O and Love, where they sipped water, not alcohol.

2 comments:

Anonymous said...

Please reconsider this post. It is mean spirited and wrong. In Angelman Syndrome, no one has "defective genes" - it is usually a spontaneous change in the ovum.

This syndrome has no causative connection a grandchild having Prader-Willi. It is highly doubtful that the child can reproduce and there is no increased risk of a child having PW, beyond what anyone has, including you and your children.

Why would you want to post such a tacky, hurtful, article about an innocent little boy?

LallyH@comcast.net

FunDa© said...

Sorry for the emotionless post. It was a long time ago. I still can't figure out why I posted this. Must have been to get people to somehow read this blog.


Anonymous (LallyH@comcast.net) said :
In Angelman Syndrome, no one has "defective genes" - it is usually a spontaneous change in the ovum.

I'm not sure I agree with you there abut the technical aspect. All medical textbooks and genetics books describe Angelman and Prader-Willi syndrome as a classic example of the phenomenon of genomic imprinting.

What happens in genomic imprinting is this :

All human beings have 24 pairs of chromosomes numbered from 1 to 23 and then 2 sex chromosomes.

The first 23 pairs are called autosomes. This syndrome is caused by a mutation (defect, in other words) in the 15th pair of chromosomes.


Now the imprinting theory(it has been verified) dictates that a defect in the 15th chromosome from the father causes Prader-Willi syndrome, whereas a defect in the 15th chromosome which came from the mother causes the Angelman syndrome.
This produces visible changes the the human even though only on of the pair of genes is defective.

There are various other types of genetic diseases - autosomal recessive being a type where both of a pair must be defective before a disease is visible. The extra chromosome is a backup.

I apologize for the emotionless analysis, but that is my job. I hope the boy leads a happy life.

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