Missing Genetic Pieces

This is a different kind of book, written by the mother of a child with 22q11.  She took so many notes over the years that they came together into a book.

 You can see the book, Missing Genetic Pieces, here.

Sherry has launched a website about it all at http://www.22qcentral.org/

The Heart

Cardiac defects, or congenital heart disease, are found in many patients with 22q11.2 deletion. In previous years this was the main feature of those cases diagnosed as genetic testing and detailed investigations were only triggered by a condition such as this. The most common cardiac defects affect the main outflows of the heart such as the aorta and the pulmonary arteries, with tetrology of fallot and interrupted aortic arch being the most common. Not all heart defects require surgery, and if your child has not been diagnosed with a heart defect as a baby then it is unlikely that one will be found in later life.

However, you may feel that as this is a common anomaly associated with the deletion that you wish your child to be referred for heart investigations. The investigations usually take the form of an echocardiogram, (which is a detailed ultra sound scan of the heart using a machine very similar to those used during pregnancy), or an electrocardiogram (which monitors the heart beat). These are not invasive procedures and are completely harmless and painless.

The Immune System

In babies and young children the immune system is controlled by the thymus gland in the chest and sometimes this can be partially or completely absent or just not work well. Again the symptoms can be mild or severe.

Often children are just more susceptible to colds and viral infections and fungal infections such as thrush. We have taken the advice of many doctors and specialists in this area. The general advice is that caution should be taken with immunisations (particularly LIVE vaccines) until it has been proven that gross 'T' cell counts are over 0.5 x 109 per litre and 'B' cell (antibody) counts are within the average/normal range.

Oral polio and BGC are live vaccines. The meningitis C vaccine is an inactivated type. The MMR jab is a live vaccine but is thought not to offer any higher risk than to children in the general population.

We would advise that parents be particularly aware of the risks of chicken pox, which can be severe, please contact your doctor if you feel your child has been exposed.

Only a small number of children are particularly vulnerable but we would advise caution. A blood test can reveal whether your child has the cells required to defend against this virus. Specific advice should be sought from your immunologist. Further information is available.

Facial Features

The facial characteristics noted are often very subtle and only apparent when a group of children are together. For example small, low set ears are noted, but if your family has large ears then your child's ears may just be small for your family.

Other features include: dark/ red rings under the eyes, long slender fingers, a slightly open mouthed expression, abundant scalp hair, a broad bridge of the nose, short stature, a small jaw and small or missing adenoids.

Development and Learning

Many children with a 22q11.2 deletion will have some sort of learning difficulty and/or developmental delays. These are not the same thing. Your child may have delays in learning to crawl, walk and often talk, in comparison to other children. This could be due to your child being very sick and spending time in hospital or be due to problems associated with the deletion such as poor motor skills, muscle tone and lack of co-ordination. Some children will only have mild delays others will have more significant problems.

Often children will have communication problems. This may be due to palate or ear problems, or due to problems with language comprehension. The areas of learning where children are most commonly noted to struggle are English comprehension, language skills, complex maths and higher cognitive processes such as abstract reasoning and problem solving.

They often have difficulty with time concepts, shape, colour and size.
They can also have disorganised thinking and become obsessed with one topic or idea. It is frequently noted that the children have poor performance IQ compared to assessed IQ. This is often termed a "Non-Verbal Learning Disability" and is unusual in people without a 22q11.2 deletion.

Most children will attend mainstream school but may need some classroom assistance or special needs lessons. It is vital that your child is monitored and that any signs of difficulty are identified early on and the appropriate intervention given. Whatever your child's difficulties there are ways of encouraging and supporting learning.

Behaviour

There are also common behavioural traits noted. These often include poor social skills in a peer group, immature or inappropriate behaviour patterns, hyperactivity, impulsiveness, be overly gullible and suffer from mood swings. Children are often noted as having low self-esteem, lack confidence and perform better when one to one with an adult whom they are familiar and confident with rather than their peer group and they often 'give up' at the slightest set back.

It should be noted that occasionally children may suffer from 'attention deficit disorder' or ADD and that medication such as Ritalin should not be given as it can cause an adverse reaction.

Calcium

Calcium is important to the body in the firing nerve endings and muscles. Some children will suffer with hypocalcaemia, or an inability to metabolise calcium. This can cause tetany or muscle spasms and in severe cases, seizures.

It is important for your baby to have their calcium levels monitored.
However it is unlikely that your child will develop hypocalcaemia in later childhood if they do not suffer from it as a small baby, though small numbers have reported on-set at puberty.. This problem is caused by anomalies of the parathyroid gland which produces a hormone called parathyroid hormone or PTH (this also runs with high serum phosphorous levels).

Medication is given to keep calcium levels higher and it appears that most children will outgrow this problem after their first birthday.
Growth may also be affected by differences in hormone levels and you can ask to be referred to an endocrinologist if you feel your child is affected in these ways.

The Palate

This is one of the most common areas where an anomaly is noted. The types of problems are very variable and can often be a combination of anomalies. You should ask for your child to be seen by a cleft palate team, a plastic surgeon or a speech therapist if you feel your child may be affected in this area.

The hard and soft palate can be affected. Babies often have reflux or vomiting through the nose, and older children have difficulty with chewing/ swallowing lumpier foods, and problems with speech. The need for speech therapy and/or surgery is quite common.

Hearing/Ears

Some children suffer repeated ear infections and glue ear is not uncommon, which can lead to temporary hearing loss. This is important to investigate as hearing loss can impede speech development.

If your child suffers with ear infections then a review by an ENT specialist is recommended. Very occasionally patients will suffer from mental health problems such as bi-polar/manic depression. Specialist advice must be sought if a problem is suspected, further information is available from Max Appeal!

Kidneys

Occasionally problems with kidney abnormalities are encountered.
These may be noted by frequent bladder infections and can be checked for by an abdominal ultrasound scan. It is highly UN- likely that surgery will be required for any abnormalities found.

Leg Pains

Many children suffer leg pains and cramps during the night or on resting from exercise. This can be due to tight ligaments in the legs or abnormalities of the foot or ankle joints.