(RxWiki News) Some genetic diseases may be very rare, but knowing they exist may help the individuals who have them get medical attention sooner. One such disease is Prader-Willi syndrome.
A recent study looked at the most common birth defects found in children born with Prader-Willi.
The researchers found that heart defects were the most common, but other types also occurred at a higher rate than in children without Prader-Willi.
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Prader-Willi syndrome is a condition caused by a missing part chromosome 15 inherited from the child's father. It is usually sporadic and is not passed down through families.
Individuals with Prader-Willi syndrome usually have reduced muscle tone and feeding difficulties in infancy. They typically develop obesity in early childhood because they often crave food. Their sex glands also produce little or no hormones and they have reduced mental ability.
The study, led by Maria Torrado, MD, of the Department of Genetics at Hospital de Pediatría in Buenos Aires, Argentina, aimed to better understand what kind of birth defects often occur in children with Prader-Willi syndrome.
The researchers tracked 180 children born with Prader-Willi syndrome over a 13-year period.
The researchers compared the birth defects found among these children with the birth defects found in the general population, using national and international registries that track birth defects.
Overall, 40 of the children with Prader-Willi syndrome (22 percent) had at least one birth defect. The researchers calculated that children with Prader-Willi were 5.4 to 18.7 times more likely to have some kind of birth defect.
The most common birth defects seen in the children were heart defects, which were found in eight of the children with Prader-Willi (4.4 percent).
Five children (2.8 percent) had renal and ureter defects, five had clubfoot, five had problems in their spines, and six (3.3 percent) had hip dysplasia, which is an abnormal development of the hip.
Five children had defects in their corpus callosum, a part of the brain that connects the left and right hemispheres.
Most of the children's birth defects (28 of them) were discovered within the baby's first month after birth, but others were found only after the diagnosis of Prader-Willi.
David Stockton MD, FACMG, Chief of the Division of Genetic and Metabolic Disorders at DMC Children’s Hospital of Michigan said “This publication emphasizes the importance of making a specific diagnosis so families and care givers can be aware of other potential risks and can proactively deal with. These results can likely be generalized to other rarer or less recognizable disorders and the need to figure out a specific cause for them by sending appropriate testing or being evaluated by appropriate specialists.”
“Prader-Willi syndrome is an unfortunate trick of nature where parents have to work so hard to get their babies to eat and grow when they are little but then cannot get to stop eating a few years later. This is in addition to the increased risk of other birth defects.”
The researchers therefore recommended that children who have Prader-Willi syndrome have a series of tests when they are diagnosed to determine whether they have other health issues or birth defects that doctors should be aware of.
The recommended tests include ultrasounds of the abdomen, renal area and hip, an evaluation of their heart, spinal x-rays and at least one ultrasound of the brain, if the individual is still a baby.
The study was published January 7 in the journal Pediatrics. The research did not receive external funding, and the authors had no conflicts of interest to disclose.