About the 22q11.2 Deletion

Background Information

22q11.2 Deletion Syndrome (Velo Cardio Facial Syndrome, DiGeorge) is caused by the deletion of approximately 40 genes on the 22nd chromosome.  It is the 2nd most common deletion syndrome after Down's Syndrome and affects approximately 1 in 2000 people.  Yet, many doctors, educators and families have never heard of it until a diagnosis is finally made.  Many times this occurs late in a child's life or after several years of struggling with health and learning issues with no definitive underlying cause.  School staff are in a unique position to improve the recognition of the syndrome by identifying students with learning difficulties who also have either a heart defect or hypernasal speech. These children may, in fact, have an underlying genetic cause for their struggles.  A relatively easy blood test (FISH test) can identify the deletion and help parents and schools get connected to available resources.    

Often times programming for children with the 22q11.2 syndrome is a complicated process that involves many specialists, teachers, and family members.  We have learned quite a bit in the last decade about the difficulties children with 22q11 have with learning new information.  Numerous studies have been done internationally to delineate the cognitive profile of children and adults with the syndrome.  We are also understanding a great deal more about effective interventions and preferred instructional methods.  Although there is a lot of progress that still needs to be made, we do have information that will assist in providing children with a positive school experience. 

Educators and parents need to recognize the wide variability of cognitive impairment found in children with 22q11.2.  Approximately 30% of children tested in clinical settings have a full scale IQ in the cognitively impaired range (< 70).  These children typically need more intensive educational interventions compared to the remaining group of children (70%) with general learning ability in the low average or average range.  Many higher functioning children have graduated high school and have gone on to post secondary training situations.  It is therefore imperative that schools frequently assess children with 22q11 throughout their school years so that a program tailored to each child’s unique needs can be drafted.  It is often true that these needs change over time; so careful monitoring is essential for effective learning strategies.    

Studies in brain development of children with 22q11 have pointed to structural abnormalities as possible causes for learning and social struggles.  These studies have also assisted educational psychologists in determining which areas should be tested to better define learning difficulties. Among the areas recommended for testing are:
- General intelligence
- Academic skills
- Visual spatial processing ability
- Executive function
- Working memory
- Hearing / auditory processing
- Expressive and receptive language skills
- Social skills (including face and body recognition)
- Life skills/ independent living skills development
- Fine /gross motor skills
- Behavior /emotional health, if needed (including tests for attention difficulties, anxiety, obsessive / compulsive disorder, depression, and other mental health challenges)    

​Research has also indicated that many students with 22q11 exhibit difficulties in specific areas. It is therefore important that school personnel are trained in the deletion and become aware of the possible learning difficulties associated with the syndrome.   Many children have school struggles in the following areas:
- Developing math understanding/number sense
- Working memory development (ability to hold information in mind long enough to perform more complicated tasks)
- Planning ability
- Inability to attend (on task behavior and concentration) during group time or when doing an individual activity
- High frustration levels when tasks are difficult
- Initiative and self-regulation
- Receptive language skills (ability to follow simple instructions)
- Visual reasoning (ability to do visual problem solving tasks, awareness of visual details, visual perception and judgment of lines and angles)
- Visual processing skills (remembering location of objects, recognizing objects from different angles, scanning to find objects, recognizing emotion in facial expressions, recognizing differences in sizes of objects)
- Listening/reading comprehension skills
- Phonemic awareness/hearing issues
- Speech intelligibility/palate abnormalities
- Expressive language skills
- Retention of general knowledge and understanding the world
- Milestone acquisition
- Fine motor skills as related to acquiring ability to color, cut, write, etc.  
- Gross motor skills especially related to balance and crossing the midline
- Social skills acquisition—ability to share, express needs, take turns, remember rules
- Ability to form friendships and play with others
- Skills to be able to follow school routine and transition from one activity to the next 

Interventions

Educational interventions can begin early in a child’s life and at first typically involve speech and occupational therapy to address articulation difficulties and low muscle tone.  It is quite common for children with 22q11.2 to need therapy services for many years as they develop appropriate speech patterns and later as they work to improve their pragmatic language skills.  Additionally early pre-school experiences can assist the young child in acquiring general knowledge and learning how to navigate through a school routine.    

​Early intervention is also recommended for developing early numeracy skills.  Difficulty with mathematical thinking is quite common with the syndrome and can persist into adulthood.  Children with 22q11.2 have difficulty understanding the magnitude of numbers and often do not easily grasp number sense concepts.  Although children with 22q11 can learn to memorize math algorithms with repeated drill and practice, the practical aspect of how and when to apply mathematical formulas remains problematic. Intensive intervention to develop an intuitive grasp of numbers may help mitigate this difficulty.    

Although many children with 22q11 do learn to decode words at a typical age, they often lag behind their peers in the area of reading comprehension.   There are several reasons that may account for this difficulty including deficits in working memory, poor visual-spatial ability, lack of general knowledge and poor attention regulation.  Effective reading instruction is best accomplished with direct instruction in a small group setting.  Attention should also be given to the size of the text, visual appearance of the page, and pre-reading knowledge. 

Social, emotional and health issues may also adversely affect a child’s school performance.   It is vitally important for the school team to become familiar with this part of the syndrome and how these areas impact a child’s ability to learn.  It is highly recommended that school staff receive training in 22q11 so that they can better understand the complexity of the learning profile.    

​Older children with 22q11.2 often need specialized learning plans that take into account their unique learning needs.  In general, most children with the syndrome learn best experientially in a small group or 1-1 setting.  They also excel in flexible environments where they are given multiple opportunities for success.    

​Educating children with 22q11.2 is often a complicated process where specialized intervention is needed throughout the school years.  We are still in the early stages of gathering longitudinal data to better understand the long-term adult outcomes for the 22q11.2 population.  We do know that many adults with the syndrome are married, working and living relatively normal lives.  On the other hand, there is evidence that a when young adults with 22q11.2 leave school a large number are not gainfully employed, need assistance to live independently, and some develop rather significant psychological impairments.  Hopefully in the next few years we will be poised to gather more detailed information about adult needs so that we will be better able to supply the interventions and support necessary to ensure the fullest possible life for those with the deletion. 

Transition to Adulthood

The path to adulthood can be a rocky one for students with disabilities.  This is especially true to students with 22q11.2.   Too often school districts just assume a smooth path to college and the job force, even though most students with this syndrome rely heavily on support from others to complete homework, navigate through the demands of life and to orchestrate social opportunities.  Many adults with 22q11.2 are employed, so pursuing a comfortable employment setting is a very reasonable option.  However, many adults do find part-time employment and assistance from a job coach important for maintaining success.  Some young adults have gone to college or to post-secondary training.  Some have married and have children.  However, for the vast majority of adults, the ability to find full-time gainful employment and total self-sufficiency is the exception rather than the rule.  It is extremely important for families to be very assertive pre-graduation from high school to weigh the options and develop a detailed transition plan.  This may include securing SSI, help from the Department of Vocational Training, assistance in finding the right college, or help crafting a comprehensive plan for IEP assistance from 18-21.  Parents must understand that in most states graduation from high school ends services through the school system.  Once the diploma is given, families must look to other avenues for support.


In order to better serve families with the deletion, it would be very helpful to collect data on outcomes.  If you are an adult with 22q11.2 or have a loved one age 18 or older, please consider completing the survey below and emailing it to cutlerlandsman@gmail.com.  Your input would add valuable insight into how to better serve older students with the deletion.  The survey should allow you to type in your answers.  Your responses will be kept confidential.  THANK YOU so much for contributing to the community!

Free Counseling Support for Families with the 22q11.2 Deletion

Cutler-Landsman Consulting, LLC has teamed up with the 22q Family Foundation to offer families a limited amount of free consulting services.  This program is possible due to a generous start up donation from the Dempster Family Foundation along with the support of families, friends, and businesses. Funds are available for 2018.  Please click below to be directed to the Education Station link (top tab section) to apply for support.

Additional 22q11.2 Resources for Families

22q Family Foundation

The 22q Family Foundation is a new organization that has partnered with Cutler-Landsman Consulting to offer educational support and provide resources for families.  

VCFS Virtual Center

The Velo Cardio Facial Virtual Center, headed by Dr. Robert Shprintzen, offers video conferencing support for families dealing with the syndrome.  Experts in varies specialties are available for consultations.  This service is free to families.

The International 22q11.2 Foundation

The 22q11.2 Foundation is active in the 22q community supplying information about the syndrome, organizing the 22q at the Zoo event, publishing the 22q calendar, awarding scholarships and sponsoring conferences.

22q11.2 Society

The 22q11.2 Society is a professional organization that is dedicated to understanding the deletion through research and collaboration.  Important scientific information and articles are available on this site.