Parents , have you ever heard of Jacob’s syndrome? This syndrome is known as a genetic condition that only occurs in boys. Children who suffer from this syndrome can be taller than other boys. These are just a few of the other characteristics of Jacob’s Syndrome that have been known in the medical world.
Unfortunately, this syndrome has the potential to cause problems for sufferers, such as stunted motor development in children . Therefore, it is important to learn more, including the causes of Jacob’s syndrome to find out how to overcome it. Here is the explanation.
Understanding Jacob’s Syndrome
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Jacob syndrome or also known as XYY syndrome is found in about 1 in 1000 boys. Most people have 46 chromosomes in each cell. In men, this usually includes one X chromosome and one Y chromosome (XY). While Jacob syndrome or XYY syndrome is a genetic condition that occurs when a man has an extra copy of the Y chromosome in each of his cells (XYY). Sometimes, this mutation is only present in some cells. Men with XYY syndrome have 47 chromosomes because of the extra Y chromosome.
For the most part, people with Jacob syndrome live unique lives. Some may be taller than average and have learning disabilities or speech problems. They may also grow up with minor physical differences, such as weaker muscle tone. Other than these complications, males with Jacob syndrome typically have no distinguishing physical features, and they have normal sexual development.
Most boys with Jacob syndrome can grow up normally and lead productive lives. However, because symptoms can vary from one child to another, doctors will recommend different treatments depending on how severe the condition is. This syndrome also has other names such as:
- XYY Syndrome
- XYY Karyotype
- YY Syndrome
- Jacob’s Syndrome
Characteristic features
As mentioned above, the symptoms of this condition vary widely. Some may not even show any obvious signs or may only have mild symptoms. However, sometimes the disorder can cause significant problems.
Here are some of the characteristics of Jacob’s Syndrome that may appear in boys:
- higher than average height
- low muscle tone, or muscle weakness (called hypotonia)
- a very curved little finger (called clinodactyly)
- widely spaced eyes (called hypertelorism)
- experiencing delays in the development of social, language, and learning skills
- have problems with reading and understanding mathematics
- experiencing mild coordination delays
- delayed development of motor skills , such as walking or crawling
- autism diagnosis
- hard to focus
Reason
So what causes someone to have this condition? Basically, the syndrome is the result of a random mix-up, or mutation, during the creation of a man’s genetic code. Most cases of the syndrome are not inherited. Researchers do not believe that there is a genetic predisposition to it. That is, men with Jacob’s syndrome are no more or less likely than other men to have children with the same syndrome.
Random errors can occur during sperm formation or at different times during embryo formation. In the latter case, males may have some cells that are not affected. This means that some cells may have the genotype XY while others have the genotype XYY.
Who Can Get This Syndrome?
This syndrome is not usually inherited. Because it occurs randomly, any male child has the potential to develop the syndrome. Diagnosis can be made based on prenatal testing, or it may occur during childhood or adulthood if a male has signs or symptoms of the disease.
Hereditary Factors
It is important to note that Jacob syndrome is not a medical condition that is passed from parent to child. The chromosome changes occur as a random event during the formation of sperm cells. This error in cell division is called nondisjunction and can result in sperm cells with an extra copy of the Y chromosome. If any of these atypical reproductive cells contribute to a child’s genetic makeup, the child will have an extra Y chromosome in every cell of the body.
The 46,XY/47,XYY mosaic arrangement is also not inherited because it is a random event during cell division in early embryonic development. As a result, some cells of a person have one X chromosome and one Y chromosome (46,XY), and other cells have one X chromosome and two Y chromosomes (47,XYY) or Jacob’s syndrome.
Diagnosis
Parents , because sometimes this condition does not have clear symptoms, it is difficult to diagnose. Sometimes this condition is only known or discovered when the doctor checks other problems in the child’s body. To find out, parents need to pay attention to the child’s physical condition and behavior and discuss it with the doctor.
Jacob’s syndrome is often discovered because parents talk to their doctor about concerns about their son’s development. This can help the child receive an early diagnosis. Research has shown that early intervention and treatment are more effective.
In some cases, the syndrome may remain undiagnosed until adulthood, when fertility problems such as decreased sperm count may indicate the possibility of the condition.
In addition, genetic disorders can be diagnosed with chromosome analysis. If your doctor cannot find another explanation for your symptoms that might indicate XYY syndrome, they may order a chromosome analysis to check for XYY syndrome.
To diagnose this condition, your doctor will check a blood sample for the extra Y chromosome. Before birth, the condition can be found through a karyotype test (chromosomal analysis) or a noninvasive prenatal test (NIPT). NIPT is done on the fluid that surrounds the fetus, tissue from the placenta, or blood from the mother. After birth, your doctor can make a diagnosis with a karyotype or with a microarray test of the baby.
Prevalence
The prevalence or incidence of this syndrome is five to 10 children with 47,XYY syndrome in the United States every day. Many affected individuals are never diagnosed or are not diagnosed until later in life. Similarly in Indonesia, there is no data stating the incidence of Jacob syndrome that is currently known.
The Impact of Jacob’s Syndrome on Children
Patients with Jacobs syndrome have been found to be at risk for certain diseases. Including asthma, seizure disorders, and tremors. Some 47,XYY patients have also been noted to have genitourinary abnormalities such as microphallus, hypoplastic scrotum, cryptorchidism, and hypospadias.
Some children with Jacob syndrome are also at high risk for learning disabilities, ADHD, autism spectrum disorders , and speech difficulties.
As they age, people with Jacob’s syndrome are more likely to be diagnosed with infertility due to oligospermia or sperm chromosome abnormalities. Several psychological studies have shown that these patients may have problems with impulse control and emotional regulation.
Early studies of incarcerated men with 47,XYY syndrome showed increased testosterone levels were associated with an increased risk of aggressive behavior.
More recent studies have found these men to be at increased risk for criminal activity, although testosterone levels have not been consistently found to be elevated or associated with this increased risk.
Possible Complications
In addition to those mentioned above, XYY syndrome may increase the risk of the following:
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Scoliosis
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Weak muscle tone
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Hand tremors or motor tics
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Delays in the development of motor skills, such as sitting and walking
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Delays in the development of speech and language skills
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ADD/ADHD
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Depression and anxiety
How to Care for People with Jacob’s Syndrome
Parents , there is no cure for Jacob’s syndrome. However, certain treatments can help manage some of the symptoms that arise. Therefore, finding the right services early is important to help boys live healthier and more productive lives.
Treatment options vary greatly depending on how old the boy is at the time of diagnosis, whether he has any noticeable symptoms, and the severity of those symptoms. Here are some of them:
Routine Doctor Visits
To be able to know the development of the condition felt by the child, the first treatment that can be done is to visit the doctor regularly. Through this meeting, the doctor can monitor delays, social and language disabilities, or health problems and treat them immediately.
Learning Support
Because in some cases, people with Jacob syndrome experience certain developmental delays, learning support services can be very helpful. This can teach children how to keep up with lessons at school. Parents can discuss their child’s condition with their teacher so that they get more attention.
Early Intervention Services
You can provide your child with speech, occupational, physical, or developmental therapy in the early months of life or as soon as concerns are discovered. Speech and physical therapy can improve your child’s speaking, reading, and writing skills and help improve their physical strength and coordination. Occupational therapy and behavioral therapy can also be taken to help your child develop self-confidence and interact better with other children.
Counseling
In addition to medical support, parents can take counseling services to better understand Jacob’s syndrome and help their children live productive lives. Physical therapy can be given at 15 months for speech delays, in grade 1 for reading and learning problems, and in grade 3 for anxiety or depression.
How to Prevent Jacob’s Syndrome
There is no way to prevent or treat Jacob’s syndrome. The only thing that can be done is to recognize the symptoms experienced by the child early on and then determine the appropriate treatment. The right treatment can help reduce the symptoms and their impact on the child.
Mild symptoms often do not require treatment. Boys with more pronounced symptoms are often encouraged to begin treatment as early as possible, preferably during puberty. Starting treatment early can prevent some symptoms and potential problems from developing later in life.
Popular Frequently Asked Questions Regarding Jacob’s Syndrome
Although it is a rare disease, Parents may need to know in general about the causes and how to prevent Jacob’s syndrome. Therefore, various questions arise about Jacob’s syndrome, as a way to be aware of it. Here are some frequently asked questions about Jacob’s syndrome. Check it out!
How is an XYY Male Formed?
Normally, the formation of male sex chromosomes is XY. However, in Jacob’s syndrome, there is an excess of Y chromosomes, so that the chromosomes formed are XYY. This is why it is called XYY syndrome.
Is Jacob’s Syndrome Hereditary?
Although genetic, Jacob syndrome is not inherited from parents. This is because the chromosome changes occur as random events during the formation of sperm cells.
Who Discovered Jacob’s Syndrome?
If Parents are curious about who discovered Jacob’s syndrome, the answer is Joe Hin Tjio. A genetic scientist who discovered that the number of human chromosomes is 23 pairs or 46 in each cell. He is a scientist who was born in Indonesia, and his discovery was published in 1955.
How Does Jacob’s Syndrome Occur?
Jacob syndrome can occur when a random error occurs during the creation of a man’s genetic code. This process can occur during sperm formation or during embryo formation.
How are you, Parents ? Have you gotten a clearer picture of Jacob’s syndrome? Keep in mind that in many cases, people with Jacob’s syndrome can still live productively as usual. Pay attention to any symptoms that appear in your child and discuss them with your doctor for further treatment. Hopefully, Parents and your little ones will always be healthy.
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Republished with permission from theAsianParent Indonesia
