Jacobsen syndrome is a rare chromosomal disorder resulting from deletion of genes from chromosome 11 that includes band 11q24.1. It is a congenital disorder. Since the deletion takes place on the q arm of chromosome 11, it is also called 11q terminal deletion disorder. The deletion may range from 5 million to 16 million deleted DNA base pairs. The severity of symptoms depends on the number of deletions; the more deletions there are, the more severe the symptoms are likely to be. People with Jacobsen syndrome have serious intellectual disabilities, dysmorphic features, delayed development and a variety of physical problems including heart defects. Research shows that almost 88.5% of people with Jacobsen syndrome have a bleeding disorder called Paris-Trousseau syndrome.Jacobsen syndrome is catastrophic in 1 out of every 5 cases, with children usually dying within the first 2 years of life due to heart complications. Signs and symptoms
Almost all children with Jacobsen syndrome have intellectual disabilities, which range from mild to moderate depending upon the number of the deletions of genes from the chromosome. Most have delayed development, including delayed speech, motor disabilities and lack of coordination, which makes simple activities like sitting, standing and walking difficult.
A simple assessment of the symptoms can be done to diagnose the syndrome. A thorough physical examination could be carried out to assess the symptoms. Treatment
There has been no treatment discovered for Jacobsen syndrome to date, but the symptoms can be treated. 56% of children with Jacobsen syndrome have congenital heart problems; to keep them in check, a baseline evaluation can be made by a paediatric cardiologist by carrying out an electrocardiogram or echocardiogram. Any problems that are found can be treated then.Monthly CBT may help ease bleeding disorders. Consecutively, platelet transfusion and ddAVP can be carried out. Medication that interferes with platelet count should be avoided, and oral contraceptive therapy may be considered for women with heavy bleeding during menses.An evaluation by a neuropsychologist or a behaviour specialist like a psychiatrist or psychologist can be performed, including brain imaging like MRI or ERP. Later, as deemed appropriate, intervention programs can be carried through. Music therapy is very beneficial for language development. According to the age, vision and hearing tests can aid in fixing problems related cognition. For problems related to behaviour like ADHD, medication or therapy would be required but a combination of both is more effective. An ophthalmologist should be consulted to treat the eye defects. Play and interactive games encourage the child to speak. Habilitiation in children should begin at an early age. A habilitation team includes professionals with special expertise in how disability affects everyday life, health and development.