DiGeorge Syndrome at School

DiGeorge Syndrome

What is 22q11.2 deletion syndrome in children?

22q11.2 deletion syndrome (22q11.2DS) is a genetic disorder. In children with this syndrome, a tiny piece of chromosome 22 is missing. This can cause many health problems. These problems may range from heart defects and developmental delays to seizures. The child may also have changes in how the eyes, nose, or ears look. Or the child may have an opening in the roof of the mouth (cleft palate). Most children with the syndrome only have some of the health problems. In general, any of the health problems can be treated, especially if they are found early.

The name of the syndrome refers to the missing piece of chromosome 22. It is located at a place on that chromosome called q11.2.

The symptoms of 22q11.2DS can vary greatly from one child to another. For that reason, several disorders caused by 22q11.2DS have had other names in the past. These names include:

  • DiGeorge syndrome
  • Velocardiofacial syndrome (VCFS)
  • Shprintzen syndrome
  • Conotruncal anomaly face syndrome (CTAF)
  • Sedlackova syndrome
  • CATCH 22 syndrome

Some children with the syndrome had been diagnosed with Opitz G/BBB syndrome or Cayler cardiofacial syndrome in the past. Healthcare providers now know that these disorders all share the same genetic cause as 22q11.2DS. 

About 1 in 4,000 people have 22q11.2DS. But some experts believe this number is higher. Some parents who have a child with this chromosome problem may not know it because the symptoms are less severe.

What causes 22q11.2DS in a child?

Most children with 22q11.2DS are missing about 50 genes. Researchers don’t yet know the exact function of many of these genes. But missing the gene TBX1 on chromosome 22 likely causes the syndrome’s most common physical symptoms. These include heart problems and cleft palate. The loss of another gene (called COMT) may also explain the higher risk for behavior problems and mental illness.

About 9 in 10 cases of 22q11.2DS happen by chance (randomly). They occur when the egg is fertilized. Or they occur early in a baby’s growth in the mother’s uterus. This means that most children with the disorder have no family history of it.

But a person with the condition can pass it on to his or her children. About 1 in 10 cases are inherited from the mother or the father. When the condition is inherited, other family members could also be affected. A person who has this chromosome deletion has a 1 in 2 chance of passing the problem to a child. So both parents can have their blood studied to look for the deletion.

Which children are at risk for 22q11.2DS?

A child is more at risk for this disorder if he or she has a parent with the condition or is carrying the faulty chromosome. But most cases occur randomly.

What are the symptoms of 22q11.2DS in a child?

Symptoms of 22q11.2DS may vary widely, even among family members. At least 30 symptoms have been seen with this disorder. Most children have only some of the symptoms.

The most common symptoms include:

  • Heart defects. These are usually present from birth (congenital).
  • Mouth problems. These include cleft palate and a palate that does not close fully (velopharyngeal insufficiency). These can cause speech problems.
  • Ear problems. This includes middle ear infections or hearing loss.
  • Low levels of calcium in the blood. This is caused by problems with the parathyroid glands and can trigger seizures.
  • Immune system problems. These can increase the risk for infections.
  • Spine problems. These include curvature of the spine (scoliosis) and problems with the bones of the neck or upper back.
  • Learning problems. These include delays in development and speech.
  • Communication and social problems. This includes autism.
  • Increased risk for mental illness. This includes anxiety, depression, or schizophrenia in adulthood.
  • Feeding difficulties. These may occur because of a cleft palate, gastroesophageal reflux, or other issues.
  • Kidney problems. These may include an abnormally shaped kidney or a missing kidney.

Facial features of children may include:

  • Small ears with squared upper ear
  • Hooded eyelids
  • Cleft lip, cleft palate, or both
  • Uneven (asymmetric) face when crying
  • Small mouth, chin, and side areas of the tip of the nose

The symptoms of 22q11.2DS can be like other health conditions. Make sure your child sees his or her healthcare provider for a diagnosis.

How is 22q11.2DS diagnosed in a child?

Your child’s healthcare provider will look at your child’s prenatal history and complete health and family history. He or she will do a physical exam. Your child may need certain tests. These may include:

  • Blood tests. These are to look for immune system problems.
  • X-ray. This test makes pictures of internal tissues, bones, and organs.
  • Echocardiography. This test looks at the structure of the heart and how well it is working.
  • Fluorescent in situ hybridization (FISH) studies. This blood test looks for certain genes that are deleted. If the FISH test doesn’t find any deletion in the 22q11.2 region of the chromosome, but your child has signs of the syndrome, he or she will usually need a full chromosome study. This will look for other chromosome problems.
  • Chromosomal microarray. This is similar to a FISH test. But it looks at many regions across all the chromosomes, including chromosome 22. This is to find a missing piece in the 22q11.2 location.

How is 22q11.2DS treated in a child?

There is no cure for 22q11.2DS. But many of its related health problems can be treated. You can help your child by seeking early care.

Treatment will depend on your child’s symptoms, age, and general health. It will also depend on how severe the condition is.

Treatment may include working with specialists. This may include any of the below:

  • Cardiologist. He or she will look at any heart defects. The cardiologist may correct them with a procedure or surgery.
  • Plastic surgeon and speech pathologist. They will look at any cleft lip or cleft palate defects.
  • Speech and digestive specialists. They will look at any feeding problems. Some children with the syndrome have severe feeding problems. They need tube feedings in order to get enough nutrition.
  • Immune system specialist.  Your child should be checked by this type of specialist. If your child has a T cell problem, he or she is at risk for infections that keep coming back. Your child should not have any live viral vaccines. Your child should have any blood products for a transfusion irradiated. This is true unless your child’s immune system doctor says that is not needed.

Other common problems that may need treatment include:

  • Low calcium. This is common in children with the syndrome, especially right after birth. But it can also happen during times of stress, such as during puberty or after surgery. Your child may need to take calcium and vitamin D supplements. Your child may need to see an endocrinologist. This is a doctor who specializes in treating problems of the endocrine system.
  • Development problems. Young children with 22q11.2DS may be slow to meet developmental milestones. These include sitting, walking, and talking. The International 22q11.2 Deletion Syndrome Foundation recommends that parents consider physical therapy (PT), occupational therapy (OT), and speech therapy for their child. PT strengthens large muscles and helps children meet developmental milestones. OT focuses on small muscles used for tying shoes, buttoning clothes, and other tasks. It can also help with feeding problems. Speech therapy can help your child with language delays.

What are the possible complications of 22q11.2DS in a child?

A small number of children with severe heart defects and immune system problems caused by 22q11.2DS will not survive the first year of life. But most children with the syndrome who get treatment will survive and grow into adulthood. These children will likely need extra help throughout school. They may also need long-term care for their health needs.

Some children with the syndrome may have behavioral conditions. These include autism, attention deficit disorder, obsessive compulsive disorder, or anxiety.

How can I help prevent 22q11.2DS in my child?

Most cases of 22q11.2DS occur randomly. So the disease can’t always be prevented. In about 1 in 10 cases of the syndrome, the deletion is inherited from one of the parents. Think about having genetic testing and counseling to find out if this disorder is inherited. If you have the 22q11.2 deletion, you have a 1 in 2 chance of passing it on to a child. This is true for every pregnancy you have.

How can I help my child live with 22q11.2DS?

Most health problems caused by 22q11.2DS can be treated, especially if they are found early. You can help your child by:

  • Keeping all appointments with your child’s healthcare provider.
  • Calling the healthcare provider if you are concerned about your child’s symptoms.
  • Telling others of your child’s condition. Work with your child’s healthcare provider and school to come up with a treatment plan.
  • Thinking about getting genetic testing and counseling to understand whether 22q11.2DS is an inherited condition in your family.

When should I call my child’s healthcare provider?

Call the healthcare provider if your child has:

  • Symptoms that don’t get better, or get worse
  • New symptoms

Key points about 22q11.2DS in children

  • 2 deletion syndrome (22q11.2DS) is a genetic disorder where a tiny piece of chromosome 22 is missing.
  • Most cases happen randomly as a baby grows in the mother’s uterus. It can also be inherited.
  • Symptoms vary widely and can range from heart defects and developmental delays to seizures. A child’s eyes, nose, or ears may look different. Or the child may have an opening in the roof of the mouth (cleft palate).
  • The syndrome has no cure. But many related health problems can be treated. You can help your child by seeking early care.
  • Most children who get treatment early will survive and grow into adulthood. They will likely need extra help throughout school. They may also need long-term care for their health needs.
  • A person with this condition has a 1 in 2 chance of passing the problem to a child. So genetic testing and counseling are important.

Source

Resources

Information for Educators and Members of School Resource Teams

22q Deletion Velocardiofacial At a Glance (Comprehensive overview)*

Supporting children with genetic syndromes in the classroom: the example of 22q deletion syndrome COLIN REILLY and LINDSEY STEDMAN

Educational Issues for children with Chromosome 22q11.2 deletion (PowerPoint)

What is 22q11.2 Deletion Syndrome? (Super Duper Handout)

Math Instruction for Students with Chromosome 22q11.2 Deletion Cheryl Dultz

Videos from the 22q foundation

final-22q-infograph-pano

Books

Just Jen: Living With Invisible Differences

By R. S. Hibbard

In this funny, heartwarming celebration of kindness and inclusion, spunky grade school narrator Jenna, or Jen (as she prefers), shares all about living with invisible differences.

Parents

Helping your Anxious Child

A Step by Step Guide for Parents

by Ronald Rapee, PhD

This revised and expanded edition of the best-selling Helping Your Anxious Child offers parents the most up-to-date, proven-effective techniques for helping children overcome anxiety.


Overview of The Syndrome Missing Genetic Pieces

by Sherry Baker-Gomez

The author, Sherry Baker-Gomez, is the parent of a child with VCFS. Her son, now 25, was finally diagnosed with VCFS at 18 years of age after a long medical history and searching for answers. Sherry, herself, had been so desperate for answers after many years of struggling with her son’s undiagnosed disorder that she became a nurse in an effort to understand the symptoms she saw in him and what they meant. Then she realized that many other parents needed answers and needed to know where to turn, so she began writing.

Committed to VCFS education, Sherry started gathering information on resources and, stories that offered support. Working along with other parents and professionals, Sherry has organized this collection of information into a comprehensive handbook that brings information and resources to parents, professionals, and others under one cover.

Modified from http://www.amazon.com/Missing-Genetic-Pieces-Sherry-Baker-Gomez/dp/097453580X


Educating Children with Velo-cardio-facial Syndrome

by Donna Cutler-Landsman

This book effectively blends the thoughtful research that has transpired within the past 15 years with practical and current educational strategies to better meet the needs of children with VCFS and other developmental disabilities.

The first part of the book explains the syndrome and the implications of current research in the fields of brain abnormalities, language/learning profiles and psychiatric/behavioral difficulties. These chapters are written in a reader-friendly manner for parents, professionals, and teachers. The second part of the book is a practical guide to educating a child with VCFS from birth through adulthood. It includes information regarding the necessary tests special education teams should run, typical difficulties associated with learning, changes that occur with ability as the child matures, as well as behavioral problems in the school setting. The authors also present meaningful advice on issues such as friendships, private vs. public school placement, job training, and other pertinent decisions that affect the VCFS child’s everyday life.

Modified from http://www.amazon.com/Educating-Velo-Cardio-Facial-Syndromes-Communication-Disorders/dp/1597564923


Educating the Child with VCFS Also Known as 22q11.2 Deletion Syndrome and DiGeorge Syndrome. Second Edition

by Donna Cutler-Landsman

For the second edition, the author has added fresh and updated content. A partial list of new material includes:

  • The most recent research and studies to make the text as up-to-date as possible
  • Expanded and enhanced coverage of bullying and the social/emotional aspects of VCFS
  • More information on common core standards and standardized testing for children with disabilities
  • Homeschooling and other placement alternatives
  • Executive functioning deficits and their impact in the classroom
  • Dealing with problem behaviors
  • Issues related to anxiety and school success
  • Cognitive remediation and new treatment strategies
  • New math and reading remediation techniques
  • Expanded section on the very young child

With its expanded content, as well as contributions from some of the most highly regarded experts in the field, Educating Children with Velo-Cardio Facial Syndrome (also Known as 22q11.2 Deletion Syndrome and DiGeorge Syndrome), Second Edition is an essential resource for teachers, parents, physicians, and therapists of children with velo-cardio-facial-syndrome.

Modified from http://www.amazon.com


Footprints of Hope: VCFS (Velo-Cardio-Facial Syndrome)

by Raymond Tanner

54-year-old Raymond Tanner has always felt different. As a child, he looked unusual, had trouble speaking clearly and was a slow learner. Over the years, he’s had countless operations to improve his appearance. For Tanner, being diagnosed with VCSF (at the age of 43) helped him re-evaluate his life, but it also brought a burden of guilt – both his sons were born with the syndrome. His first son died of heart problems when he was nine days old. His other son, Andrew, has ongoing health issues. Tanner now hopes to help other families through giving them a better understanding of VCFS, and encouragement that support is available and there is hope for the future.

This book is a compilation of stories from families from Australia, France, Israel, New Zealand, South Africa, the UK and the USA; and other important information. It also tells about Raymond Tanner’s life story with VCFS in himself and his two sons.

Modified from http://www.amazon.com/Footprints-Hope-VCFS-Velo-Cardio-Facial-Syndrome/dp/0958117535


Adolescence and Young Adulthood Being Different: Growing up with impairments

by Daniella Krijger

Daniella is worried about the future of her son Tijn. He has been diagnosed with 22Q11deletion syndrome, and also has ADHD, autism spectrum disorder and Dyslexia. She wanted to know how people with a syndrome, disorder or impairment led their lives, what they had been through and whether they had been able to make their dreams come true despite these obstacles. How does it feel when others see you as being ‘different’ and treat you ‘differently’?

In this inspiring book, adolescents and adults with 22Q11 deletion syndrome, ADHD and ASD tell about their dreams and ambitions, friendships, love, education, work, drugs and depressions. Young people with a disability have to work harder at doing their best. They have the additional challenge of biases and incomprehension. Increasing awareness about 22Q11 deletion syndrome will hopefully contribute to more understanding and patience for these people who might seem different but who are as ordinary as anyone else.

Modified from http://www.amazon.com/Being-Different-Growing-impairments-ebook/dp/B008EVT0TE


A Different Life

by Quinn Bradlee

Ten percent of the population is affected by a learning disability, but few of us understand what being learning disabled (LD) is really like. When he was fourteen, Bradlee was diagnosed with Velo-Cardio-Facial-Syndrome (VCFS), a wide-spread, little-understood disorder that is expressed through a wide range of physical ailments and learning disabilities. In this funny, moving, and often irreverent book, Bradlee tells his own inspirational story of growing up as an LD kid—and of doing so as the child of larger-than-life, formidably accomplished parents: long-time Washington Post executive editor Ben Bradlee and bestselling author Sally Quinn. From his difficulties reading social cues, to his cringe-worthy loss of sexual innocence, Bradlee describes the challenges and joys of living “a different life” with disarming candor and humor. By the end of A Different Life he will have become, if not your best friend, one of your favorite people.

From http://www.amazon.com/Different-Life-Learning-Disabled-Adventures/dp/B004JU1U1U


Socially Curious and Curiously Social: A Social Thinking Guidebook for Bright Teens & Young Adults

by Michelle Garcia Winner and Pamela Crooke

This anime-illustrated guidebook is written for teens and young adults to learn how the social mind is expected to work in order to effectively relate to others at school, at work, in the community and even at home. The book is written in the language of teens about what really goes on inside the minds of people as we share space together.

From discussing the ins and outs of what it means to be a social thinker to figuring out texting, dating, the different levels of friendship and the many and varied emotions we experience as we relate to others, the authors describe the real world of being with other people. The authors are not trying to get every reader to find a group to hang out with; instead, they are providing information to help each person find his or her place and be appreciated by others at whatever level he or she feels comfortable with.

Modified from http://www.amazon.com/Socially-Curious-Curiously-Social-Guidebook/dp/0884272028


So, What’s the Difference? A self-help guide to helping children and young adults understand their learning differences

By Donna Cutler-Landsman

This self-help workbook is designed to assist students with disabilities in understanding causes of disabilities, recognizing individual strengths and weaknesses, soliciting help from others, understanding the role of special education, learning how to be successful at school, studying for tests more effectively, getting and staying organized, coping with teasing and bullying, making and keeping friends, coping with sadness and frustration, recognizing the struggles of others, mapping out and working towards future goals.

The workbooks are available in four themes: butterflies, coral reef, racecar and jungle.


Children with Cleft Lip and Palate

A Parents’ Guide to Early Speech- Language Development and Treatment 

by Mary A. Hardin-Jones, Ph.D., CCC-SLP, Kathy L. Chapman, Ph.D., CCC-SLP & Nancy J. Scherer, Ph.D., CCC-SLP

Family-friendly guidance and support for young children with clefts. Teams of SLPs explain clefts and offer strategies to improve speech and language in children up to age three.

Modified from http://woodbinehouse.com/book_reviews.asp?product_id=978-1-60613-210-4

Living With a Brother or Sister With Special Needs: A Book for Sibs

by Donald Meyer and Patricia Vadasy

Living with a Brother or Sister with Special Needs focuses on the intensity of emotions that brothers and sisters experience when they have a sibling with special needs, and the hard questions they ask: What caused my sibling’s disability? Could my own child have a disability as well? What will happen to my sibling if my parents die? Written for young readers, the book discusses specific disabilities in easy to understand terms. It talks about the good and not-so-good parts of having a sibling with special needs, and offers suggestions for how to make life easier for everyone in the family.

This revised and updated edition includes new sections on attention deficit hyperactivity disorder, fetal alcohol syndrome, fragile X syndrome, traumatic brain injuries, ultrasound, speech therapy, recent legislation on disabilities, and an extensive bibliography.

Modified from http://www.amazon.com/Living-Brother-Sister-Special-Needs/dp/0295975474


Views from Our Shoes: Growing Up with a Brother or Sister with Special Needs

by Donald Joseph Meyer

In Views From Our Shoes, 45 siblings share their experiences as the brother or sister of someone with a disability. The children whose essays are featured here range from four to eighteen and are the siblings of youngsters with a variety of special needs, including autism, cerebral palsy, developmental delays, ADD, hydrocephalus, visual and hearing impairments, Down and Tourette syndromes. Their personal tales introduce young siblings to others like them, perhaps for the first time, and allow them to compare experiences. A glossary of disabilities provides easy-to-understand definitions of many of the conditions mentioned.

From http://www.amazon.com/Views-Our-Shoes-Growing-Brother/dp/0933149980

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