Understanding a Jacobsen Syndrome Diagnosis

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Front Matter

In recognition of Eunice Kennedy Shriver, whose boundless vision advanced the progress of people with disabilities for generations, in appreciation for her special interest in this project and the generous contribution of the Joseph P. Kennedy, Jr. Foundation toward the funding and support of this booklet.

©2017 Joseph P. Kennedy, Jr. Foundation and Human Development Institute, University of Kentucky. All rights reserved. Written by Stephanie Meredith. Designed by Canister. Photos, shot on location by Justin and Mia Meredith, include members of the Jacobsen syndrome community, their friends, families, teachers, and co-workers in their schools, neighborhoods, homes, and places of employment. Order additional copies at Lettercase.

The material in this publication is intended to provide a general overview of Jacobsen syndrome and select, reliable resources. It is not comprehensive and should not be used to substitute for quality medical advice from your provider. All decisions about a patient’s care should be fully discussed with a medical care provider. We assume no liability arising from the use of, or content within, this booklet.

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Overview

This booklet offers information for expectant parents first learning about Jacobsen syndrome, which is a chromosome condition. Chromosomes are tiny, but very important, structures in every cell. Chromosomes carry instructions for our bodies to grow and function. Most people have a total of 46 chromosomes in their cells, 23 from their mother and 23 from their father.

Each person has two copies of chromosome 11, and Jacobsen syndrome (11q Deletion or 11q- - or 11qX1) occurs when part of one chromosome 11 is changed or deleted. Jacobsen syndrome is very rare and is found in about one out of every 100,000 babies at birth. This condition tends to be seen more often in females than in males.1

The range of medical issues and abilities can vary widely for people with Jacobsen syndrome. The impact of the condition sometimes depends on how much of the chromosome is missing.2 However, each person with Jacobsen syndrome has his or her own strengths and challenges that no one can predict before birth. In general, most people with this condition also have a bleeding disorder and certain facial features. People who have Jacobsen syndrome also have higher chances for heart issues and intellectual disabilities.3

While people with Jacobsen syndrome do face challenges caused by their condition, recent advances in health care, education, and public attitudes have greatly improved their lives. This progress has given them more opportunities as valued members of their families and communities. This means that more people with Jacobsen syndrome are finishing school, finding jobs, forming meaningful relationships, and living healthier.

More information about Jacobsen syndrome can be obtained from the 11q Research and Resource Group.

Diagnosis

Confirming the diagnosis

Jacobsen syndrome may be diagnosed during pregnancy or after a baby is born. This condition is rare and is usually found because of genetic evaluations for other reasons.

Sometimes an ultrasound can show signs that a baby has an increased chance of having Jacobsen syndrome if the clinician sees certain physical signs such as heart issues, head or facial features, or kidney defects. Certain blood tests called cell-free DNA tests (cfDNA), may also show if there is an increased chance for Jacobsen syndrome or other genetic conditions. However, national medical organizations do not recommend these tests for Jacobsen syndrome unless a family history is present. National medical organizations also recommend that patients do not make pregnancy decisions based on cfDNA blood tests alone.4

Neither ultrasound nor blood tests can confirm a diagnosis with certainty. If a patient wants to know for sure, she must have either a chorionic villus sampling (CVS) or amniocentesis (tests that take samples of fetal tissue or fluid). A prenatal diagnosis of Jacobsen syndrome is confirmed by looking at a baby’s chromosomes from a CVS or amnio and verifying that part of one chromosome 11 is deleted.

Explaining the diagnosis

The medical professionals involved in providing prenatal testing and explaining the diagnosis might include any of the following: obstetricians, neonatologists, midwives, maternal-fetal medicine specialists, medical geneticists, genetic counselors, family medicine providers, or pediatricians. In some areas, nurses or physician assistants may also be involved.

Receiving news about a diagnosis can be overwhelming, and families often cope with a range of emotions during that time. Some patients also appreciate learning that the chromosome deletion, which causes Jacobsen syndrome, is present from the time of conception and happens by chance. This condition is not caused by anything the parents did or did not do during pregnancy.

Making Plans

Patients who are looking into prenatal testing might want to discuss with their health providers how they plan to use the test results. Some might use prenatal test results to prepare or make specific delivery plans. They might use the time during pregnancy to find helpful resources about the condition. They might also want screening to help find other issues, such as heart defects. Some might use a confirmed prenatal diagnosis to consider pregnancy management decisions.

For all of these personal decisions, obstetric medical providers and medical genetics professionals can provide referrals to specialists, discuss all available pregnancy management options, and give patients more information. They can share valuable knowledge about Jacobsen syndrome. They can also help patients consider their personal views, values, and beliefs about a diagnosis and how these affect their decision-making.

Genetic counselors and medical geneticists can be found by getting a referral from a physician or by searching online at the National Society for Genetic Counselors or the American College of Medical Genetics and Genomics.

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Families

Research shows that 100% of parents report that they love their son or daughter with Jacobsen syndrome, and 97% are proud of their child. The majority of parents also feel their outlook on life is more positive because of their child. Meanwhile, 29% of parents feel their life is more overwhelming than they can handle. Even though the majority of parents in the survey report that their child with Jacobsen syndrome is very challenging, the vast majority of parents also say that they enjoy spending time with their child. Their enjoyment was not affected by the child’s level of ability or health issues.5

Most parents also say their child with this condition teaches them lessons in patience, love, joy, perseverance, advocacy skills, and kindness/empathy. These parents recommend that new and expectant parents learn to be positive and identify good support groups/resources as coping strategies.5

Almost half of parents feel their child with Jacobsen syndrome is very frustrated; yet, the vast majority also say that their child has a happy life. The study shows that life for parents of children with this condition can be challenging and rewarding at the same time.5

In addition, the majority of parents report that their sons or daughters without Jacobsen syndrome have good relationships with their siblings with the condition. Most parents say that the relationship between siblings is positive, and not connected to the degree of medical problems or abilities of the child with Jacobsen syndrome. Further, the percentage of those who say that their child with Jacobsen syndrome causes a strain on their marriage is only slightly higher than the percentage who say children in general put a strain on their marriage. Nearly half of the parents say that having a child with Jacobsen syndrome actually strengthens their marriage.5

For more information about government aid and savings options for people with disabilities and their families in the US, please refer to the following:

Educational and Social Support

The Individuals with Disabilities Education Act (IDEA) is a federal law that gives children with Jacobsen syndrome the right to a free and appropriate education in the public school system. After children with Jacobsen syndrome turn three years old, they usually move from Early Intervention to pre-school services in the public school system.

Because many people with Jacobsen syndrome have mild to moderate intellectual disabilities, they often receive some special education services. Extra classroom support can help with common issues for people with Jacobsen syndrome, such as short attention spans and distractibility.1 Those services, such as therapy, small group instruction, or other help, are based on individual needs and strengths. More students with Jacobsen syndrome also receive those support services while being included in a regular classroom.

Some people with Jacobsen syndrome have minimal intellectual disabilities, such as a mild learning disorder, while about a third have severe intellectual disabilities that require substantial classroom support. About half of children with Jacobsen syndrome have autism,6,7 and the majority have behavioral issues, including attention deficit hyperactivity disorder and compulsive behavior, such as shredding paper.1 Therefore, they may need extra support and services at school to address any challenging behaviors.

The first generation of people with Jacobsen syndrome who had access to early education and inclusive classrooms is now entering adulthood. A small subset of people with Jacobsen syndrome are now attending college, living independently, getting married, and working at different jobs. To date, almost 250 colleges offer programs for people with intellectual disabilities.

For more information, please also refer to the following resources:

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Medical Issues

Children with Jacobsen syndrome have higher chances for various health issues. However, better healthcare has greatly improved the outcome for these medical conditions.

Almost all children with Jacobsen syndrome have a condition called Paris-Trousseau (a bleeding disorder that can cause low platelet counts at birth). While the platelet count tends to improve over time, platelet problems are often still present. Since platelets are important in helping our blood clot, these problems can cause prolonged bleeding and a tendency to bruise easily. This blood disorder is serious and can cause possibly life-threatening bleeding at times of risk, such as surgeries. Therefore, specialists should be told if a patient has this condition before any surgery.3

About half of newborns with Jacobsen syndrome also have heart defects. Heart defects, bleeding and serious infections require prompt medical care because they can be life threatening. Other common medical issues include undescended testes in boys, digestive issues (such as pyloric stenosis), constipation, immunodeficiency, eczema (dry skin), eye issues, and chronic ear infections that can sometimes lead to hearing loss.3 People with Jacobsen syndrome may also be at increased risk for strokes.8

A typical newborn with Jacobsen syndrome usually has at least a few of these conditions, but generally not all of them. The majority of these conditions are treatable. Most of the health issues, including heart defects and digestive issues, can be corrected with surgery during the first two years of life.

A small number of children with Jacobsen syndrome do not survive past the first two years or have complex medical needs that may require more intensive medical treatment. The most common causes of death in people with Jacobsen syndrome have been congenital heart disease, immune problems and bleeding. Yet healthcare has improved greatly for people with Jacobsen syndrome in the past few decades. While increasing, the life expectancy of adults with this condition is still unknown.1

Some people with Jacobsen syndrome may be short and are in the lowest 10 percent of the population for height.1 Therefore, experts also recommend that children with Jacobsen syndrome see an endocrinologist to check hormone levels and discuss whether or not they want hormone treatment or therapy services to adapt.9

Most newborns with Jacobsen syndrome have mild to moderate intellectual disabilities. These disabilities can be helped with physical therapy, occupational therapy, speech therapy, and educational services.3 Based on recent studies, at least two FDA-approved drugs might help improve intellectual disability and autism through off-label use.10

For more specific information about medical issues linked with Jacobsen syndrome, please refer to the following resources:

Healthcare and Social Services

Most people with Jacobsen syndrome have various developmental delays and need extra services to reach their potential. Children with Jacobsen syndrome often have speech delays and need services to help them learn to talk.3

Early intervention programs provide therapy for children with developmental disabilities from birth to age three at no cost or for a sliding-scale fee. They work with families in the home to teach children how to meet developmental milestones, like crawling, walking, and saying their first words. Children with Jacobsen syndrome may need speech, occupational, and/or physical therapy to improve their skills and abilities for the future. Music therapy can also be very helpful for people with Jacobsen syndrome, and certified music therapists are trained to work specifically with people with disabilities.11

In addition, children with Jacobsen syndrome can usually get health coverage for their medical care under regular group health plans or state programs (Medicaid or SCHIP). However, they might need more services than a typical health plan provides. To offset those extra costs, some states or regions completely cover health care for people with disabilities, others offer supplemental insurance programs, and some areas give little additional support.

Because the healthcare and development services available can vary depending on where people with Jacobsen syndrome live, expectant parents often find it helpful to speak with other families, pediatricians, or state and county offices about the services in their area.

For more information, please also refer to the following resources:

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Jacobsen Syndrome Resources

For more information about Jacobsen syndrome and to find local, national, and online support groups, please see the following:

Conclusion

Parents learning about Jacobsen syndrome should receive accurate and up-to-date resources. This information should include common life outcomes and development, possible medical issues and treatments, and helpful services. Expectant parents should also receive clear information about testing and pregnancy management. Together, health professionals and support groups can provide a range of information to give parents a well-rounded understanding of Jacobsen syndrome.

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Acknowledgments

This booklet was prepared with assistance from the Genetic Conditions Consensus Group which includes representatives of:

  • The National Society of Genetic Counselors
  • The American College of Medical Genetics and Genomics
  • American Academy of Pediatrics
  • The American College of Obstetricians and Gynecologists
  • Association of University Centers on Disabilities
  • 11q Research and Resource Group
  • SIGU (Italian Human Genetic Society)
  • Università di Catania ITALY
  • Rady Children's Hospital-San Diego/UC San Diego School of Medicine

We would like to thank the following who offered their expertise and feedback for this resource:

  • Judith Benkendorf, MS, CGC, ACMG
  • Joseph R. Biggio, Jr., MD, Oschner Health System, New Orleans
  • Linzee Carroll, 11q Research and Resource Group
  • David B. Flannery, MD, FACMG, ACMG
  • Paul Grossfeld, MD, Rady Children's Hospital-San Diego/UC San Diego School of Medicine
  • Harold Kleinert, PhD, University of Kentucky
  • Teresa Mattina, MD, Università di Catania ITALY
  • Beth A. Pletcher, MD, Rutgers New Jersey Medical School
  • Angela Trepanier, MS, CGC, Wayne State University

We would also like to thank all the families and individuals who participated in the photos and their generous donation of time.

We are also very grateful to the Joseph P. Kennedy, Jr. Foundation for funding the development of this important resource.

End Notes

1 Mattina T, Perrotta CS, Grossfeld P. 2009. Jacobsen syndrome. Orphanet J Rare Dis Mar 7;4:9.
2 Coldren CD, Lai Z, Shragg P, Rossi E, Glidewell SC, Zuffardi O, Mattina T, Ivy DD, Curfs LM, Mattson SN, Riley EP, Treier M, Grossfeld P. 2008. Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioural defects in the 11q terminal deletion disorder (Jacobsen syndrome). Neurogenetics 10(2):89-95.
3 Grossfeld PD, Mattina T, Lai Z, Favier R, Jones KL, Cotter F, Jones C. 2004. The 11q terminal deletion disorder: A prospective study of 110 cases. Am J Med Genet 129A: 51-61.
4 ACOG Practice Bulletin No. 640. (2015). Cell-free DNA screening for aneuploidy. Obstet Gyneco, 126:e31- 37
5 Meredith S, Lobianco A, Kleinert H. 2017. Having a Son or Daughter with Jacobsen Syndrome/11q Deletion Syndrome: Perspectives of Parents. Human Development Institute Research Brief, Spring 2017. Lexington, KY: University of KY, Human Development Institute.
6 Akshoomoff N, Mattson S, Grossfeld PD. 2015. Evidence for autism spectrum disorder in Jacobsen syndrome: Identification of a candidate gene in distal 11q. Genetics in Medicine, 17, 143–148.
7 Nakamura T, Arima-Yoshida F, Sakaue F, Nasu-Nishimura Y, Takeda Y, Matsuura K, Akshoomoff N, Mattson SN, Grossfeld PD, Manabe T, Akiyama T. 2016. PX-RICS-deficient mice mimic autism spectrum disorder in Jacobsen syndrome through impaired GABAA receptor trafficking. Nat Commun Mar 16;7:10861
8 Grossfeld P. Brain hemorrhages in Jacobsen syndrome: A retrospective review of six cases and clinical recommendations. Am J Med Genet A. 2017 Mar;173(3):667-670.
9 Haghi M, Dewan A, Jones KL, Reitz R, Jones C, Grossfeld P. 2004. Endocrine abnormalities in patients with Jacobsen (11q-) syndrome. Am J Med Genet A 129A:62–63.
10 Favier R, Akshoomoff N, Mattson S, Grossfeld P. Am J Med Genet C Semin Med Genet. 2015. Jacobsen syndrome: Advances in our knowledge of phenotype and genotype. Sep;169(3):239-50.
11 Proceeding from the 10th International 11q Conference: Music Therapy: Musicworks, CA: San Diego.