The Jacobsen Syndrome is a rare genetic disorder. The condition is associated with stunted growth, intellectual disability, heart defects, and limb abnormalities.
What is Jacobsen Syndrome?
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The Jacobsen Syndrome is and is a rare chromosomal abnormality distal 11q deletion syndrome called. A section is missing from chromosome number 11. The disease is very rare. Little is known about the syndrome discovered by the Danish doctor Petra Jacobsen. Around 80 cases have been documented to date.
The frequency is given with one disease per 100,000 newborns. Girls are more often affected than boys. The ratio is around 2: 1. Both physical and mental development are disturbed. Those affected can be visually recognized by external malformations. There are, among other things, a Mongolian fold on the eyes, a short neck, a wide short nose, a falling lower lip and a V-shaped mouth.
Affected people have a low (IQ below 80) to medium (IQ below 50) intellectual disability. This reduction in intelligence leads to linguistic and cognitive deficits. Verbal expression in particular is far below that of children of the same age.
causes
The cause of Jacobsen syndrome is the loss of a chromosome segment of the eleventh chromosome. A mutation (deletion) has occurred in the q arm of chromosome no. 11. Much genetic information is lost as a result. According to the latest scientific findings, this deletion is inherited from the father in 15 percent of patients.
The cause lies in an unsuccessful transmission of the parental genes. In about 85 percent of the cases, the genetic mutation occurs spontaneously, i.e. without an inherited predisposition. As a result of this genetic change, a faulty protein is created. It is still unclear why these genetic changes can happen.
Symptoms, ailments & signs
Symptoms appear from birth and affect the entire body. Deformations in the head area, such as a short neck, high palate or drooping eyelids, are typical. The dysmorphism of the face can be recognized by a small triangular head with a protruding forehead.
Affected people occasionally have eye abnormalities (e.g. glaucoma, cataracts, strabismus). Heart defects occur in around half of those affected. The cognitive performance is different in sick people. Usually the classification is a mild to moderate intellectual disability.
Normal mental development is hardly to be found. Mainly, cognitive and language skills are limited. Affected people have difficulty expressing themselves verbally and, in comparison, understand language better. Fine and gross motor skills are often restricted. In over 90 percent, there is a reduction in blood platelets (thrombocytes).
As a result, sick people have an increased tendency to bleed. Changes can be seen in the hands and feet, such as a hammer toe, underdeveloped nails, excess fingers or webbing. Those affected rarely suffer from stunted growth, abnormalities of the genitals, hernias and changes in the kidneys.
Diagnosis & course of disease
The majority of affected children are born normally and the syndrome is diagnosed in the first few months of life. In such cases, the heart defect and the blood count with changed blood components are detected first. Due to the rarity of chromosome defects, doctors are often puzzled.
Parents of the sick children report months or years of medical ordeal before diagnosis. Life expectancy is limited. About a fifth of the children affected die in the first two years of life. Bleeding or congenital heart defects are decisive for early death.
In addition, a tendency to recurring infections has a negative effect. If the affected child is operated on on the heart, receives regular blood transfusions and early intervention, the quality of life can be improved. The life expectancy of those surviving children beyond the two years is unknown because of the rarity of Jacobsen syndrome.
Complications
Jacobsen syndrome causes a number of different disorders and complaints in patients, which usually complicate everyday life and significantly reduce the quality of life. In most cases, those affected suffer from growth disorders and intellectual disabilities. It is not uncommon for you to rely on the help of other people in everyday life.
Heart defects also occur. If left untreated, this can lead to the death of the person concerned if sudden cardiac death occurs. It is not uncommon for the limbs to be affected, resulting in various malformations and anomalies. Especially in children, Jacobsen syndrome can therefore lead to teasing or bullying and create severe depression or other psychological upsets.
It is not uncommon for the children's parents to suffer from psychological complaints. It is not possible to treat Jacobsen syndrome causally. Therefore, treatment is primarily based on the symptoms and aims to increase life expectancy. There are usually no further complications. However, the person affected is dependent on regular examinations.
When should you go to the doctor?
In most cases, newborns are examined extensively by obstetricians and paediatricians immediately after birth and in the following months. Since possible irregularities of Jacobsen syndrome can already be detected and diagnosed during these examinations, the parents of the child do not necessarily have to take action in the event of abnormalities and irregularities. If no automatic examinations take place or if the first symptoms go unnoticed during the check-ups, a visit to the doctor is necessary as soon as physical peculiarities or abnormalities become apparent in the first few months of life.
If feeding is refused, the infant hardly reacts to external stimuli or if the eye position is unusual, a doctor should be consulted. A stare or a permanent squint is a condition that should be diagnosed. Deformities of the head, a short neck or an unusual appearance of the forehead are indications that should be clarified by a doctor. If mental disorders, developmental delays in speech or gross motor movements become apparent in the further course of development, a visit to a doctor is advisable.
An increased tendency to bleed and visual changes in the limbs are further signs of Jacobsen syndrome, which should be investigated medically. The diagnosis is made based on evidence of a genetic change. Therefore, in the case of symptoms such as disorders of the heart rhythm or an irregular heartbeat, further examinations are necessary to clarify the cause.
Treatment & Therapy
The syndrome is usually recognized at a young age. Some patients need surgery. The interventions on the heart of the sick child are often carried out shortly after birth. Regular blood checks and transfusions are necessary for life.
Frequent medical visits to specialists are necessary. Those affected with limitations in the optical system take advantage of close ophthalmic treatments. Internal examinations are carried out on the basis of the organic damage. Orthopedic surgeons are consulted about foot and hand misalignments.
The quality of life can be improved through speech therapy. Language promotion improves the expressiveness of the sick children. It makes sense to start early intervention and physiotherapy as soon as possible. Early intervention is a collective term for educational and therapeutic measures for children with disabilities.
Through playful methods, the development should be supported already in the first years of life. The degree of intellectual disability cannot be significantly reduced, but the quality of life can be improved. We also work with the parents so that they can support the child well at home. Physiotherapy is recommended for improving fine and gross motor skills.
Children with the syndrome will most likely not be able to start school normally. Supportive measures are appropriate so that a school career as normal as possible is possible. The therapies and treatments for Jacobsen syndrome can improve symptoms but not cure them. Sick people are dependent on medical and therapeutic help for the rest of their lives.
Outlook & forecast
The prognosis for Jacobsen syndrome is poor. It is a genetic disease that cannot be completely treated with the current medical and legal options. Due to existing laws, no change in human genetics may take place. Therefore, symptomatic therapy of the individual complaints is carried out.
If medical care is not used, the already impaired quality of life is further restricted. In addition, the already reduced life expectancy is significantly reduced by another. Due to the large number of complaints, treatment for this disease is imperative. Normally, different therapeutic approaches are pursued in parallel to improve the patient's quality of life and to extend the existing life expectancy. The sooner therapy begins, the more successful the results are. A complete cure is not achieved in spite of all efforts in this disease. Optical changes or deformities are corrected by surgical interventions if necessary. The aim of the interventions is always to optimize well-being and improve health impairments.
A large number of patients die in the first two years of life. The disease leads to a congenital heart defect. In many infants this is irreversible or, due to a generally weakened state of health, no surgical intervention can be carried out that the patient would survive.
prevention
Jacobsen syndrome is sometimes noticeable on ultrasound before birth. Despite a problem-free pregnancy, the unborn child can be small and underweight. The mother can consent to prenatal examinations. During an examination of the amniotic fluid, genetic material is taken.
If the probability of a genetic defect is high, the pregnancy can be terminated. There is a possibility that Jacobsen syndrome can be passed on to other children. There are no known preventive measures against a gene mutation. It is important in any pregnancy to promote the health of the child through a healthy lifestyle.
Aftercare
Children with Jacobsen syndrome must receive medical care and care from a multidisciplinary department in the follow-up treatment phase after diagnosis. Complications and life-threatening situations are caused by the serious heart defects in children and can have a very strong impact on viability.
In addition, the blood count has changed in such a way that there is a high and life-threatening susceptibility to infection in everyday life. The congenital deficit in the production of platelets permanently leads to an increased risk of bleeding. Due to the mental handicap, the children are permanently dependent on support and help in everyday life. An independent lifestyle is usually not possible.
However, regular follow-up examinations can mean that appropriate medical treatments are necessary and help that significantly improve the quality of life and life expectancy of the child (e.g. heart surgery, blood transfusions). Physiotherapeutic and occupational therapy and early intervention can alleviate the child's path of suffering a little and resources of the developmental stage can be used and preserved.
The child's senses can be addressed through aromatherapy, sound therapy, music therapy and light therapy. An important point in the follow-up treatment of children with Jacobsen syndrome is the work, advice and support of the families in coping with and dealing with the sick child. In this way, the child's abilities and skills can be recognized, used, maintained and supported together.
You can do that yourself
Regular check-ups with your family doctor and specialists such as cardiologists or orthopedists are essential if you have Jacobsen syndrome. If the eyes are affected by the disease, parents and their child should also visit the ophthalmologist at short intervals. In addition, those affected can take some measures to improve their child's quality of life.
This includes, for example, visits to the speech therapist. This can effectively promote the child's ability to express themselves through special exercises to promote language. Physiotherapy is also useful to support the child in developing their motor and fine motor skills. All therapeutic and educational measures for children with physical and / or mental disabilities are summarized under the term early intervention. Since the symptoms of Jacobsen syndrome vary widely, parents should talk to their pediatrician to clarify which forms of therapy are most advisable for their own child.
Especially in the first years of life, parents can support their child through playful methods. Although this does not reduce the degree of disability, it is still possible to improve the quality of life. Since life with a child suffering from Jacobsen syndrome is a great emotional burden, parents should not be afraid to seek help if in doubt - be it from a doctor, psychologist or educator.
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