Jacob Syndrome Definition, Reason, Symptoms, Treatment & Prevention
Definition
Jacob’s syndrome is a genetic disorder caused by an abnormality of the XY chromosome. This disease is experienced by baby boys.
People with this syndrome can experience speech difficulties, and behavioral disorders, and are taller than children of their age.
This disease is relatively rare. Data states that an estimated 1 in 1,000 newborns have this syndrome.
Although it cannot be cured, there are several therapies that can help sufferers.
Jacob syndrome
| Medical specialist | Pediatrician |
| Symptoms | Learning disorders, speech delays, motor disorders |
| Risk Factors | Genetic disorders |
| Diagnosis | History, physical examination, supporting examination (genetic) |
| Treatment | Motor therapy, speech therapy |
| Drug | If necessary, it will be given by a psychiatrist (according to symptoms) |
| Complications | Impaired motor and speech development |
| When to See a Doctor? | If there is a child development disorder, especially if a red flag has been found |
Jacob Syndrome Symptoms
Although it affects the XY sex chromosome, people with Jacobs syndrome do not experience impaired sexual function.
He continues to experience puberty and male sexual maturation as he should, his fertility is not disturbed.
In addition, his physical appearance from the outside was no different from normal men. It’s just that, generally sufferers of Jacob’s syndrome are taller than the average height of men of his age.
Disorders that occur in people with Jacob’s syndrome are impaired cognitive function, in the form of learning disorders (for example, unable to read or write), speech delays, and language disorders.
In addition to these things, the symptoms and characteristics of sufferers of Jacob’s syndrome that can be recognized include:
- Motor disturbances such as late being able to sit or walk
- The muscles are weak
- Hand tremors
- Recurrent seizures
- Flat feet ( flat feet )
- Excess or abnormal toes
- Curved spine (scoliosis)
- Men with Jacob’s syndrome also often experience emotional and behavioral disturbances. Such as, excessive anxiety, hyperactivity (ADHD), and depression .
Jacob Syndrome Reason
The cause of Jacob’s syndrome is an abnormality on the XY chromosome. Normally, males have a sex chromosome in the form of an XY chromosome.
In Jacob’s syndrome, there is an extra Y chromosome, so the male chromosome that is formed is XYY. Therefore, it is sometimes referred to as XYY syndrome or YY syndrome.
It is not clear what causes this excess chromosome to occur until now.
However, Jacob’s syndrome is not a disability or disorder that is passed from parent to child.
Risk Factors
It is not yet known what risk factors cause an excess of XY chromosomes in people with Jacob’s syndrome.
In addition, Jacob’s syndrome is also not a disability or disorder that is passed from parents to children.
Diagnosis
The physical appearance of Jacobs syndrome sufferers is the same as normal people. There are no special physical disabilities in the sufferer.
Because the main symptoms of Jacobs syndrome are learning disorders and speech delays, this disease is only considered when a boy has a speech delay or an inability to read or write.
To confirm the existence of Jacob’s syndrome, it is necessary to carry out a genetic examination by karyotyping.
This examination is carried out by taking a sample of the blood; or if the baby is still in the womb, a sample of the amniotic fluid is taken.
If an extra Y chromosome is found on karyotyping, this confirms Jacob’s syndrome.
Jacob Syndrome Treatment
Jacob’s syndrome cannot be cured. However, the cognitive and motor disturbances that occur in people with Jacob’s syndrome can be minimized.
The sooner the treatment is done, the less cognitive and motor disturbances that occur.
Studies prove that early intervention in the form of motor therapy and speech therapy is effective in overcoming and preventing child development disorders. This intervention is carried out by a specialist pediatrician who is a developmental specialist.
In addition, if a person with Jacob’s syndrome experiences anxiety, depression, or ADHD, treatment by a psychiatrist is also needed.
The psychiatrist will do behavioral therapy and give some medicines to treat the symptoms you are experiencing.
Children with Jacob’s syndrome should not attend public schools. Because lessons in school generally will not be accepted and understood properly.
In addition, children with Jacob’s syndrome are also more prone to experiencing bullying in public schools. Special schools for children with learning disorders or homeschooling are more suitable for people with Jacob’s syndrome.
Prevention
Until now there is nothing that can be done to prevent Jacob’s syndrome.
Complications
If it is not handled properly in the early phase, it is likely that the child will experience developmental delays.
Therefore, it is very important to carry out an immediate examination when the child has the characteristics of Jacob’s syndrome above, such as speech delays and motor disturbances.
When to See a Doctor?
If your little one experiences a developmental disorder, especially if it is accompanied by a red flag based on the growth and development of a child of his age, immediately do further tests with a pediatrician.