Living with 22q

Living with 22q

What is 22q Deletion Syndrome?

22q Deletion Syndrome, which is also known as DiGeorge Syndrome and Velo-Cardio-Facial Syndrome, can affect many parts of the body.  Individuals with 22q Deletion Syndrome have a small piece of chromosome 22 missing, which is called a microdeletion.  This microdeletion involves many genes.

What are some of the common medical issues associated with 22q Deletion Syndrome?

Calcium:  Children with 22q Deletion Syndrome may have decreased calcium levels.  Maintaining a good dietary source of calcium is very important, as extremely low calcium levels can lead to seizures (convulsions).  Lifelong monitoring of calcium is important, as calcium levels can drop during illness, with the stress of surgery, and during adolescence (puberty), and pregnancy.

Kidneys: Children with 22q Deletion Syndrome can have kidney abnormalities, such as underdeveloped cystic kidneys, or even a missing kidney.  Every child with a new diagnosis of 22q Deletion Syndrome should have a kidney ultrasound, if not already had one done.

Immune System:  Children with 22q Deletion Syndrome can have partial immunodeficieny.  This means that their immune system is not as strong as it should be and not as effective at fighting infections.  If your child has partial immunodeficieny, you may receive special counseling about immunizations for your child.

Calcium Regulation
Immune System

Thyroid: Children with 22q Deletion Syndrome can have problems with their thyroid function.  (Both Underactivity and Overactivity of the thyroid has been reported).  Regular thyroid testing can help to detect and effectively treat any problems that may be identified.

Heart: Congential heart defects are more common in children with 22q Deletion Syndrome.  These can range from a simple "hole in the heart" to a complex defect that may require multiple surgeries.  All children with 22q Deletion Syndrome should have a cardiac assessment, even if there are no signs of a heart defect.

Platelets: Children with 22q Deletion Syndrome may have low platelet counts (platelets are a component of blood which function in clotting).  Platelet counts should be checked once a year and prior to any surgeries your child may have.

Velopharyngeal Insufficiency (VPI): VPI is a common feature of 22q Deletion Syndrome.  It involves failure of the palate to meet the throat during crying, swallowing and speech.  This often results in nasal-sounding speech and nasal regurgitation, in which fluid comes through the nose during feeding.  Removing the adenoids can lead to the development of VPI in some children.  Therefore careful consideration should be given to the benefits and risks of this type of surgery.

What are some of the developmental issues associated with 22q Deletion Syndrome?

Speech and Language:  Many individuals with 22q Deletion Syndrome experience difficulties with speech and language development.  A speech pathologist with specific expertise in evaluation of children with 22q Deletion Syndrome can look for signs of any of the speech difficultities commonly observed in children with 22q.

Learning and Schooling:  Many children with 22q Deletion Syndrome have some degree of learning difficulties, specifically in the areas of language and math.  The developmental progress of your child can be monitored, and if concerns arise, they can be identified early.  If concerns arise, your child may benefit from a developmental or psycho-educational assessment.

Mood and Behaviour:  Behavioural and psychiatric disorders are more common in individuals with 22q Deletion Syndrome.  There are benefits to the early recognition and intervention for these conditions.  If any concerns should develop regarding your child's mood or behaviour, a formal psychological or psychiatric assessment may be helpful.

Why do we call 22q Deletion Syndrome a genetic syndrome?

We know from past experience that in the majority of cases, microdeletion of chromosome 22 is not inherited, rather it occurs for the first time in the affected child.  In a small number of cases, however, the disorder is inherited from a parent.  Genetic testing is available to parents of all newly diagnosed children.  Your child will have a 50% chance of passing 22q Deletion Syndrome on to future children. 

At this time it is not possible to predict what medical or developmental concerns would be present in any child who might inherit 22q11.2 Deletion Syndrome, however there are currently several research studies underway to try to learn more about the variable medical and other concerns associated with this condition.

It is important to remember that each child with 22q Deletion Syndrome is different.  Some children will have many of the health concerns listed above, while others will have very few.  Working together with your child's doctors, teachers and other care-providers will help them understand your child's unique needs.