Prader-Willi Syndrome - Dream Health

Dream Health aims to provide latest information about health, alternative medicine, fitness, yoga and meditation to improve knowledge and life style.

Recent Posts

Tuesday 7 April 2015

Prader-Willi Syndrome


Prader-Willi Syndrome
Prader-Willi Syndrome – An Unusual Genetic Condition

Prader-Willi syndrome – PWS is an unusual genetic condition which affects several parts of the body. Prader-Willi syndrome is the outcome of the loss of genes in a certain region of chromosome 15 and a person generally inherits one copy of this chromosome from each parent.

Some of the genes are turned on or are active only on the inherited copy from the father or the paternal copy and this parent specific gene activation is caused by genomic imprinting, It occurs when the region of the paternal chromosome 15 comprisingof these kind of genes is absent. Research is on in identifying genes on chromosome 15 which are responsible for Prader-Willi syndrome.

 It is believed that a deletion of the OCA2 gene on chromosome 15 could be associated with unusually fair skin and light coloured hair in some cases. The protein which is produced from this gene determines the colouring or the pigmentation of the skin, eyes and hair. Researchers have not yet connected completely any other genes with specific symptoms and signs of this condition.

Several cases of this condition take place when a section of the paternal chromosome 15 is missing in each cell while in other cases, the person with two copies of chromosome 15 inherited from their mother, the maternal copies, instead of one copy from each parent. This is known as maternal uniparental disomy.

Weak Muscle Tone/Poor Growth/Delayed Development/Feeding Difficulties 

In seldom cases, Prader-Willi syndrome could be caused by chromosomal rearrangement known as translocation or by mutation or other deficiency which could abnormally turn off or inactivates genes on the paternal chromosome 15 and each of these genes could cause loss of gene function in serious region of chromosome 15.

In infancy, this ailment is characterized by weak muscle tone, poor growth, feeding difficulties together with delayed development. In the initial stage of childhood, some may develop an insatiable appetite which could result in chronic overeating and obesity while those with obesity could develop type 2 diabetes mellitus which is the common type of diabetes.

 Those with this condition tend to have mild to moderate intellectual impairment as well as learning disabilities. They may also have behavioural problems including temper tantrums, compulsive behaviour and stubbornness. Several may also have sleep abnormalities. Besides these, other symptoms could also include distinctive facial features, short stature with small hands and feet.

Some may tend to have fair skin and light coloured hair and the affected person; both males as well as females may tend to have underdeveloped genitals. Puberty tends to be delayed or incomplete and most of them are unable to have children.

Manage Over-eating Habits and Behavioural Problems 

Though there is no cure for this condition, the person can be treated to manage the symptoms together with associated problems. For parents, it could mean dealing with their child’s over-eating habits and other behavioural problems.

Getting your child to maintain a healthy balanced diet could help in maintaining normal weight and can be one of the most important help in caring for a child suffering from Prader-Willi syndrome which could be quite a challenging task.

If a child with this condition tends to follow a strict diet and control their weight they can live a normal and healthy quality of life though due to their behavioural problems and learning issues, it could be likely that they would be unable to live an independent life.

No comments:

Post a Comment

Note: only a member of this blog may post a comment.

Pages