Mga Pahina

Martes, Marso 12, 2013

PATAU SYNDROME




> Patau syndrome is the least common and most severe of the viable autosomal trisomies.
> Median survival is fewer than 3 day
> First identified as a cytogenetic syndrome in 1960, Patau syndrome is caused by an extra  
   copy of     chromosome 13, a medium-length acrocentric chromosome. 
> The extra copy of chromosome 13 in Patau syndrome causes severe neurological and heart 
     defects which       make it difficult for infants to survive. 
> Patau syndrome appears to affect females more than males, most likely because male    
    fetuses do not        survive until birth.
> Patau syndrome, like Down syndrome, is associated with increased age of the mother. It may 
   affect  individuals of all ethnic backgrounds.

Frequency of Births: 1/15000


Characteristics:



Causes:

>  The cause of the trisomy in Patau and Down syndromes is similar. A phenomenon called nondisjunction is responsible for most cases of trisomy 13 and 21. 
> Rather than splitting evenly, cells that have undergone nondisjunction typically split unevently into two cells; one cell receives one extra copy of a chromosome, while the other is deficient in the chromosome.

> A major risk factor for nondisjunction is advanced maternal age. The chance of nondisjunction increases significantly once mothers are 35 years old and greater. As you'd expect, the risk of Patau and Down syndromes increases considerably with advanced maternal age.

Diagnosis: 

The symptoms of Patau syndrome are evident at birth. Infants with Patau syndrome may present with a single umbilical artery at birth. Many times there are signs of congenital heart disease, such as atrial septal defect, abnormal placement of their heart towards the ride side of their chest, ventricular septal defect, or patent ductus arteriosus. Ultrasound or gastrointestinal X-rays might display rotation of the infant's internal organs.
Imaging studies such as computed tomography (CT) or magnetic resonance imaging (MRI) should be done to look for brain, heart, and kidney defects. An ultrasound of the heart (echocardiogram) should be done given the high frequency of heart defects associated with Patau syndrome. 

Treatment


Some infants born with Patau syndrome have severe and incurable birth defects. However, children with better prognoses require medical treatment to correct structural abnormalities and associated complications. Treatment of children with Patau syndrome involves planning on a case-by-case basis. The forms of treatment a particular person receives is dependent upon the person's particular condition. Intervention through surgical means are commonly withheld for the first few months of the person's life due to the high mortality rate of children with Patau syndrome.

Prognosis:
Approximately 45% of trisomy 13 babies die within their first month of life; up to 70% in the first six months; and over 70% by one year of age. Survival to adulthood is very rare. Only one adult is known to have survived to age 33.
Most survivors have profound mental and physical disabilities; however, the capacity for learning in children with Patau syndrome varies from case to case. Older children may be able to walk with or without a walker. They may also be able to understand words and phrases, follow simple commands, use a few words or signs, and recognize and interact with others.

Most survivors have profound mental and physical disabilities; however, the capacity for learning in children with Patau syndrome varies from case to case. Older children may be able to walk with or without a walker. They may also be able to understand words and phrases, follow simple commands, use a few words or signs, and recognize and interact with others. 

References:

Best, R., Buehler, B. (2012). Patau Syndrome. Retrieved on March 12, 2013 from http://emedicine.medscape.com/article/947706-overview.

Kugler, M. (2005). Patau Syndrome (Trisomy 13). Retrieved on March 12, 2013 from http://rarediseases.about.com/od/rarediseasesp/a/patau05.htm.

Photos from:
http://4.bp.blogspot.com/-o7W6Wmb704I/UT7uzdOIKxI/AAAAAAAAAC8/Val4RE09vY8/s400/pat.gif
http://3.bp.blogspot.com/-9aF868ORk58/UT7leKTAF6I/AAAAAAAAABo/zouOaXLupTo/s320/patau.jpg

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