According to deluxesurveillance.com, Jacobsen syndrome is a rare genetic disorder. The disease is associated with growth retardation, mental retardation, heart defects and limb abnormalities.
What is Jacobsen Syndrome?
Affected people occasionally show anomalies of the eyes (e.g. glaucoma, cataract, squinting). Heart defects occur in about half of those affected.
Jacobsen syndrome is a rare chromosomal abnormality and is also called distal 11q deletion syndrome. A section is missing on chromosome #11. The disease is very rare. Little is known about the syndrome, discovered by Danish doctor Petra Jacobsen. About 80 cases have been documented so far.
The frequency is given as one case per 100,000 newborns. Girls are affected more often than boys. The ratio is about 2:1. Both physical and mental development are disturbed. External malformations make those affected visually recognizable. Features include a Mongolian crease on the eyes, a short neck, a broad short nose, a drooping lower lip, and a V-shaped mouth.
Those affected have a mild (IQ below 80) to moderate (IQ below 50) intellectual disability. This reduction in intelligence leads to language and cognitive deficits. The ability to express themselves verbally in particular is far below that of children of the same age.
Causes
Jacobsen syndrome is caused by the loss of a section of the eleventh chromosome. A mutation (deletion) has occurred in the q-arm of chromosome #11. A lot of genetic information is lost as a result. According to the latest scientific findings, this deletion is inherited from the father in 15 percent of those affected.
The cause lies in an unsuccessful transmission of the parental genes. In about 85 percent of 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 occur.
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. Facial dysmorphism is characterized by a small triangular head with a protruding forehead.
Affected people occasionally show anomalies of the eyes (e.g. glaucoma, cataract, squinting). Heart defects occur in about half of those affected. Cognitive performance varies between patients. In most cases, the classification is a mild to moderate intellectual disability.
A normal mental development is hardly to be found. Mainly cognitive and language skills are limited. Affected people have difficulty expressing themselves verbally, but understand speech better in comparison. Fine and gross motor skills are often impaired. Over 90 percent have a reduction in blood platelets (thrombocytes).
Patients have an increased tendency to bleed as a result. Changes can be seen on the hands and feet, such as a hammer toe, underdeveloped nails, supernumerary fingers or webbed webs. Rarely, those affected suffer from growth disorders , anomalies 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 detected in the first few months of life. In such cases, the heart defect and the blood count with changed blood components are identified first. Due to the rarity of the chromosomal defect, doctors are often puzzled.
Parents of sick children report months or years of medical torture before diagnosis. Life expectancy is limited. About a fifth of affected children die within 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 has heart surgery, receives regular blood transfusions and early support, the quality of life can be improved. Life expectancy of those surviving children beyond two years is unknown because of the rarity of Jacobsen syndrome.
Complications
Jacobsen syndrome causes the patient to experience a number of different disorders and complaints, which usually make everyday life more difficult and significantly reduce the quality of life. In most cases, those affected suffer from growth disorders and mental disabilities. They are therefore often dependent on the help of other people in everyday life.
Heart defects also occur. If left untreated, these can lead to the death of the person concerned if sudden cardiac death should occur. 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 parents of the children to also suffer from mental health problems. It is not possible to treat Jacobsen syndrome causally. Therefore, the treatment is primarily based on the symptoms and aims to increase life expectancy. Usually there are no further complications. However, the person concerned 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 months that follow. Since possible irregularities of a Jacobsen syndrome can already be noticed and diagnosed within 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 checks, a doctor’s visit is necessary as soon as physical peculiarities or anomalies become apparent in the first months of life.
If food is refused, the baby hardly reacts to external stimuli or if the position of the eyes is unusual, a doctor should be consulted. A stare or a permanent squint indicates a medical condition that should be diagnosed. Distortions 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 doctor’s visit is advisable.
An increased tendency to bleed and visual changes in the limbs are further signs of Jacobsen syndrome that should be investigated medically. The diagnosis is made by detecting a genetic change. Therefore, in the case of symptoms such as cardiac arrhythmia or irregular heart activity, further examinations are necessary to clarify the cause.
Treatment & Therapy
The syndrome is usually recognized at a young age. Surgery is required for some patients. Heart surgery on sick children is often performed shortly after birth. Regular blood checks and transfusions are necessary throughout life.
Frequent visits to specialists are necessary. Those affected with limitations of the optical system take frequent ophthalmological treatments. Internal examinations are carried out because of the organic damage. Orthopaedists are consulted for foot and hand malpositions.
Quality of life can be improved with speech therapy. Language support improves the ability of the sick children to express themselves. It makes sense to start early support and physiotherapy as soon as possible. Early support is a collective term for pedagogical 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 mental 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 attend school as usual. Supportive measures are appropriate so that a school career that is as normal as possible is possible. The therapies and treatments for Jacobsen syndrome can improve symptoms, but they cannot cure them. Patients are dependent on medical and therapeutic help throughout their lives.
Outlook & Forecast
The prognosis of Jacobsen syndrome is unfavorable. It is a genetic disease that cannot be fully treated with the current medical and legal options. Due to existing laws, no modification of human genetics may take place. Therefore, a symptomatic therapy of the individually occurring complaints is carried out.
If no medical care is sought, 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 absolutely necessary. Normally, different therapeutic approaches are pursued in parallel in order to improve the patient’s quality of life and to extend the existing life expectancy. The sooner therapy begins, the more successful the results will be. Despite all efforts, complete healing is not achieved with this disease. If necessary, optical changes or deformities are corrected by surgical intervention.
A large number of patients die within the first two years of life. The disease leads to a congenital heart defect. In many infants, this is irreversible or, due to a general weakened state of health, no surgical procedure can be performed that the patient would survive.
Prevention
Jacobsen syndrome can sometimes be detected on an ultrasound even before birth. Despite a problem-free pregnancy, the unborn child can be small and underweight. The mother can agree to prenatal examinations. During an examination of the amniotic fluid, genetic material is removed.
If the probability of a genetic defect is high, the pregnancy can be terminated. Jacobsen syndrome can be passed on to other children. Preventive measures against a gene mutation are not known. It is important in every pregnancy to promote the health of the child through a healthy lifestyle.
Aftercare
Children with Jacobsen syndrome require post-diagnosis post-diagnosis medical care and attention from a multidisciplinary community. Complications and life-threatening situations are caused by the children’s serious heart defects and can have a major impact on their ability to survive.
In addition, the blood count is 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 thrombocytes 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. Leading an independent life is usually not possible.
However, regular follow-up examinations can mean that appropriate medical treatment becomes necessary and helps to significantly improve the child’s quality of life and life expectancy (e.g. heart surgery, blood transfusions). Through physiotherapeutic and ergotherapeutic therapies and early support, the child’s ordeal can be made somewhat easier and resources of the developmental stage can be used and maintained.
The senses of the child 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 by the family doctor and by specialists such as cardiologists or orthopedists are essential if Jacobsen syndrome is present. 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 help the child develop 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 support. Since the symptoms of Jacobsen syndrome vary greatly, parents should consult their pediatrician to clarify which forms of therapy are most advisable for their own child.
Especially in the first years of life, parents can also encourage their child through playful methods. Although this does not reduce the degree of disability, it is nevertheless 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 ask for help when in doubt – be it from a doctor, psychologist or educator.
