Most children who are diagnosed with 22q Deletion Syndrome before or right after birth are examined by a doctor(s) to determine if there are any specific health concerns such as heart disease, kidney problems, palate abnormalities, low calcium levels, or immune system abnormalities. Some newborns may show signs of one or more of these problems whereas others will not. If these examinations do not reveal problems in these areas, there is a high probability that these will never appear. However, some of the medical problems that are present during the newborn period can persist through childhood and/or adulthood. In addition, some medical problems may not be present during the newborn period, but only emerge later.

If your child has reached childhood without evidence of a congenital heart defect, it is unlikely that any serious heart abnormality will now be discovered or emerge. While heart disease is common in children with 22q Deletion Syndrome, many children do not have any clinical symptoms. If your child was diagnosed with a heart condition at birth or in infancy, you have probably already become a relative expert on the heart related medical and surgical considerations.

Velopharyngeal abnormalities are common in children with a 22q11 deletion. The abnormality might include an overt or sub-mucus cleft palate, small adenoids, or palatal and/or pharyngeal muscle weakness. For most children with an abnormality, there are no obvious visual signs that a parent can detect. Symptoms that might be noticeable to parents are speech difficulties (e.g., high nasal voice, speech articulation problems), or feeding issues (e.g., difficulty swallowing, avoidance of food textures). Cleft palate is often associated with ear anatomy abnormalities. The combination of these anatomical abnormalities sometimes results in recurrent ear infections and may lead to hearing loss.

During childhood, some children experience growth delay or short stature. While short stature is common in the general population, growth delays in conjunction with a 22q11 deletion can sometimes be due to a treatable hormonal irregularity.

Some children with 22q11 deletions have problems with their kidneys and/or urinary tract. Common problems include urinary tract infections, bedwetting, and frequent urination. Kidney anomalies may include a single kidney or an abnormally shaped kidney. A renal ultrasound can rule out this possibility.

Hypotonia may continue to be an issue affecting gross and fine motor skills. It may also be a contributing factor in feeding issues as well as problems with constipation. Children may complain of difficulty going to the bathroom or may avoid moving their bowels. Constipation is commonly observed in children with 22q Deletion Syndrome.

Calcium levels should continue to be monitored, and if low, treated. Calcium is an important contributor to the health of many body systems including skeletal, cardiac, and neurological. Occasionally, children with 22q11 deletions develop seizure disorders. If this is a concern for you, your pediatrician may be able to help direct you to a specialist for evaluation and treatment.

Children with 22q Deletion Syndrome may be at slightly higher risk to develop rheumatoid arthritis, a condition characterized by pain, swelling, heat and redness of the joints. Any episodes of arthritis should be mentioned to the child’s pediatrician.

Leg pains have also been associated with 22q Deletion Syndrome. However, the cause of these pains is not well understood. Leg pains are not uncommon for all children and may not be a cause for concern. However, if your child is experiencing troubling pain, a consultation with your pediatrician might be helpful.

Last Update 6-18-04

Who May be in a Medical Team?

A Pediatrician can perform several examinations and/or tests of your child’s health. If any of these tests indicate the need for further follow up, the pediatrician may refer your baby to a specialist. Some of the specialists who may be involved in providing care are:

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
Children 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 children 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 children 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

Many children with 22q11 deletions seem to have a unique developmental profile. This profile often includes specific assets and deficits that both challenge and motivate families. Recognizing areas of natural interest can help motivate all children to work more effectively and with more enjoyment. Determining areas of particular challenge may help parents identify additional resources to support their child’s learning process.

Last Update 06-18-04

Developmental Issues: Early Childhood and Preschool

During early childhood and in the preschool years, many of the developmental concerns of infancy have been more or less successfully addressed. Developmental delays may continue into the preschool years, although some differences are less visible in young children when compared to their peers. While some or all of these concerns may still pose challenges, parents have usually been able to identify strategies to manage successfully and to minimize their impact on family life. At this time, families are often facing the normal childhood challenges of toilet training, runny noses, and 1st attempts at childhood jokes and riddles.

Many families find early intervention beneficial from the newborn period until age 3. Early intervention programs usually offer a nurturing environment for families, helping parents to recognize and understand the developmental needs of their child. 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.

Whether developmentally delayed or not, children with 22q11 Deletion Syndrome continue to progress and attain skills, though at their own pace. Among the more unique difficulties, children with 22q11 deletions may show signs of expressive (what is said) and receptive (what is understood) language delays. Speech and language skills are particularly challenging for many preschool children with 22q11 Deletion Syndrome. Delays in sound making skills, hearing impairment, attention deficits, and cognitive delays can all contribute to a delay in language development.

It is common for children with 22q11 Deletion Syndrome to have problems understanding social rules and cues because they tend to have difficulty deciphering non-verbal communication. Since 65% of human communications is nonverbal (such as facial expressions and body language), a child who has trouble understanding these cues can be at a disadvantage in social situations. In this case, social skills and non-verbal cues need to be taught directly.

In addition, children with 22q11 Deletion Syndrome sometimes experience problems with coordination and balance. Gross motor (e.g., running, hopping, jumping) and fine motor development (e.g., coloring, drawing) may be especially challenging, as a result of low muscle tone. Low muscle tone may affect a child’s stamina during the school day as well as his/her writing ability.

Last Update 06-18-04

Developmental Issues: School Age

Once children are school age, some areas of relative strength are verbal learning and processing, auditory perception and memory, and rote learning. Some of the more common difficulties are verbal and nonverbal processing, reading comprehension and mathematics. Abstract reasoning can be particularly challenging, and children with 22q11 Deletion Syndrome are often more successful in environments where concrete thinking skills are stressed and systematic instructions are provided. Neuroimaging studies support the fact that specific changes in brain development and function are responsible for the cognitive profile observed in individuals with 22q11 Deletion Syndrome (e.g., difficulties in mathematical reasoning associated with parietal lobe reduction and unusual patterns of brain activation in this posterior region of the brain). For more on Cognition and Learning Styles, see an excerpt from our VCFS Educator's guide.

Delays can sometimes become more apparent as children get older. Problems reading social cues often become more apparent and your child may benefit from a focused approach to teaching these skills. Helping teachers to understand your child’s particular strengths and challenges as well as offering them concrete examples of ways they can help your child to learn better can only benefit your child’s learning process. Often, parents have noticed ways that their child has naturally attempted to compensate for a deficit. If this strategy has been even partially successful, it might be one to enhance and modify for use in the classroom. Periodic developmental testing performed by a trained neuropsychologist might also prove helpful. Appropriate learning supports might include Speech/ language therapy, Physical therapy, Occupational therapy, Education specialists, Math specialists/ tutors, Reading specialists/ tutors. For more on Educational Considerations and Strategies, see an excerpt from our VCFS Educator's guide. Some families may find it useful to print out a copy of the handbook and pass it onto their child's teacher. Many parents have found a tool like this useful in communicating with teachers about their child' needs.

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: Making Friends

Many parents have reported that their children with 22q11 Deletion Syndrome tend to be shy or have difficulties with separation. It may also be difficult for their children to make new friends. Children with 22q11 Deletion Syndrome often have less mobility in their faces and may show fewer of their emotions through facial expressions. Therefore, it may be more difficult for peers and adults to read and respond to the child’s social and emotional cues. These cues can be easily misinterpreted as disinterest and/or unresponsiveness.

Last Update 06-18-04

Social Issues: A Helping Hand

Working closely with your child’s teacher can sometimes help. Once the teacher is more attuned to your child’s concerns, the teacher can help to integrate a shy child in other children’s play. Enrolling the child in extra-curricular activities such as music or art clubs may help increase your child’s opportunities for social interaction. Speech therapy can be helpful in improving your child’s social skills as they learn how to better communicate with others. If your child seems worried, upset, anxious, depressed or angry, contacting counseling resources through your child’s school can be helpful.

Psychological, emotional and behavioral problem in children with 22q11 Deletion Syndrome may be exaggerated often secondary to speech/language, learning and communication struggles. To various degrees, at least 70% of individuals will present some problems during their development. Evaluation by a professional is likely to be beneficial (reassuring or addressing the needs.

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 child’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 children with medical and/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 child 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.

Last Update 06-18-04