• Common Concerns
• Family
• Talking with your child
• Networking
• Financial strategies

Medical Concerns

Some children with 22Q11 Deletion Syndrome are very ill as infants, while others have no apparent health issues. Many babies with 22q Deletion Syndrome have some type of heart defect. The presence of characteristic cardiac abnormalities may have actually prompted the test for a 22q11 deletion. If your baby was diagnosed at birth or soon after with a heart defect requiring surgery, the additional diagnosis of a 22q11 deletion may feel quite overwhelming. It might help to know that congenital heart defects are commonly associated with a 22q11 deletion. Some families have found that knowing about the 22q11 deletion has helped them to understand a little about why their baby has a heart defect, to connect them with appropriate resources for their baby, and to calm fears they may have for themselves and/or their other children. Since the deletion is most often a sporadic change, it may also reassure parents regarding fears of recurrence.

During the newborn period, feeding problems are common. They can include: reflux, milk escaping through the nose, poor suck, or choking. Feeding problems may be associated with a palate abnormality. These problems may be a minor inconvenience or may be more serious. They may lead to reduced intake, and therefore, difficulty gaining weight. This is sometimes referred to as Failure to Thrive (FTT).

Some babies may have immune system abnormalities. 22q11 Deletions are sometimes associated with problems in the thymus gland, where white blood cells are released. Newborns with 22q11 Deletion Syndrome may have a low white blood cell count. However, recurrent infections are rare with the exception of ear infections (which are common).  It is not uncommon for a newborn to have constipation. Constipation is thought to be the result of low muscle tone. In some cases, constipation is associated with anal stenosis or gut problems.

Occasionally, patients with 22q Deletion Syndrome have kidney problems. Therefore, a renal ultrasound to assess the possibility of a kidney abnormality is frequently recommended. Calcium levels may be monitored, and treated if necessary, to avoid risk of seizures. If a baby has heart disease, low calcium levels may also worsen the baby’s heart condition.

Last Update 6-18-04

Who May be in a Medical Team?

•  Cardiologist
  Cardiologists are doctors who specialize in conditions of the heart and vascular system. Routine examinations by a cardiologist include listening carefully to heart sounds, performing an ultrasound for the heart (echocardiogram), performing rhythm tests (ECG) and possibly cardiac catheterization.  Cardiologists provide medical treatment plans and interventions when appropriate.
   
•  Craniofacial team
  A plastic surgeon, a speech and language pathologist, an Ear Nose and Throat specialist (ENT), and an audiologist (hearing specialist) can help access the need for medical or surgical intervention.
   
• Feeding specialist
  Babies with feeding difficulties may benefit from an evaluation and/or assistance from a developmental pediatrician or feeding specialist.
   
• Geneticist / Genetic Counselor
  A geneticist and/or a genetic counselor (specialists in congenital and inherited disorders) might be helpful in establishing a diagnosis, offering chromosomal analysis and/or FISH testing, coordinating care, providing emotional support, keeping parents up to date with the latest medical information, assessing recurrence risk and prenatal diagnosis.
   
• Endocrinologist
  A doctor who specializes in glands and hormones can assist in the evaluation and care of babies with persistent low calcium levels or problems with growth (such as short stature).
   
•  Immunologist
  A doctor who specializes in the body’s immune system and its ability to fight infection can evaluate the status of immune difficulties for babies with recurrent infections.
   
• Neurologist
  A doctor who specializes in disorders of the nervous system can evaluate the risk for seizures.

Last Update 06-18-04

Developmental Issues

Slow growth and weight gain (failure to thrive) and/or low muscle tone (hypotonia) are not uncommon in infants with 22q11 Deletion Syndrome.  Low muscle tone can cause difficulties in gross motor skills such as sitting, crawling, walking, running, or jumping. Fine motor skills may also be delayed (e.g., using a spoon, scribbling, drawing.)

Speech and language delay is present in many children with 22q11 Deletion Syndrome. Often babies have relative weakness in speech sound and many speak their first words later than average.  Cognitive delays are also not uncommon (e.g., imitation, memory, problem solving, speech and language). If eligible, babies with 22q11 Deletion Syndrome may benefit from early intervention.  For Massachusetts residents, please visit the Mass Early Intervention website for more information.  For non-Massachusetts residents, go here to find your state's home page.

Early intervention programs usually offer a nurturing environment for families, helping parents to recognize and understand the developmental needs of their baby. They also offer a variety of techniques, tools, and strategies to assist families in managing the developmental challenges common with 22q11 Deletion Syndrome. Early intervention services can include speech, physical, occupational, and individual and family therapy. Early intervention programs are sponsored by the baby’s home state. Services are provided free of cost to the family. Parents can obtain early intervention services through the pediatrician.

Last Update 06-18-04

Social Issues: Common Concerns

Common toddler concerns such as sleep problem, separation anxiety, and fear of the dark may be intensified and/or their resolution delayed.  Toilet training and the acquisition of bathroom skills may require more patience and attention.

Last Update 06-18-04

Social Issues: Family

Having a child with complex medical needs may have an impact on all family members including siblings, parents, grandparents, and extended family. Family members may have concerns about a baby’s diagnosis and how that diagnosis might impact their own health and/or lives. Feelings of confusion, fear, guilt, jealousy, anger, resentment, or embarrassment are common in families of babies with medical or genetic concerns. These feelings are normal and families often benefit from openly discussing these feelings. Sometimes a counselor can be helpful in sorting out these feelings and can also offer valuable support.

Last Update 06-18-04

Social Issues: Talking With Your Child

When it is appropriate, parents may want to talk about their child’s diagnosis with their other children. Some parents report that it is easy to forget their unaffected children. As all children have different needs, it is important to maintain a balance between the needs of each child. Setting aside special time for each child has been beneficial for many families. Incorporating unaffected children in the care of their brother or sister may also be helpful. A number of community and internet organizations provide ideas and information on sibling issues (see Sibling Support Project in the Get Informed section on the What Can I Do page).

Last Update 06-18-04

Social Issues: Networking

Having a child with a medical and/or genetic diagnosis can feel socially isolating for a family. While close friends and extended family members may try their best to be helpful and accepting, there are significant limitations to their ability to truly understand your family’s experience. Many families have found that having contact with at least one other family who has the same diagnosis can be beneficial. Some families find that participating in local, regional and/or national organizations has been transforming to their experience. Participation is not for everyone. Every family must determine for itself the right time, amount, and type of participation (for options, see the What can I do? page).

The demands of caring for medically complex children can introduce, and/or significantly exaggerate already existing, strains on a family’s emotional resources. Many families have told us that talking openly about all the normal and varied concerns, fears, and confusion can be helpful. Contact with other families, diagnosis specific support groups, and/or counselors or therapists can aid in reducing these strains. Sharing educational or medical providers with other families may help encourage these providers to become better informed.  For more on this topic, see an excerpt from Selecting Your Team from the What can I do? page.

Last Update 06-18-04

Social Issues: Financial Strategies

The medical care of a baby with complex medical needs can result in high expenses. Many parents have trouble meeting these expenses. Some states provide financial assistance for the health care of children with disabilities. Check with your state’s Department of Public Health for more information about the services and resources offered by your state. The Supplemental Security Income (SSI) is a federally funded financial assistance program for low-income children with disabilities. In some states, but not all, children qualify for Medicaid Insurance coverage. For more information, go to the SSI website.

For the residents of Massachusetts, the state may provide supplemental or full health coverage for children with disabilities.  For more information, please go to here. Families that are not eligible for SSI may be eligible for the Commonwealth program. Premium costs are based on family’s income. For non-Massachusetts residents, go here to find your state's home page.

Last Update 06-18-04