A Brief Overview of Some Affected Areas

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Palate Calcium Developement
Hearing/Ears Kidneys Learning
Heart Leg Pains Attention Deficit Disorder
Immune System Facial Features Mental Health

INTRODUCTION

This is a brief introduction into the way in which a deletion on the 22nd chromosome may affect your child. If you would like more detailed information, please contact the 22q11 Group. It has been written by parents and is based upon personal experience and research.

What is a syndrome ?
Your child may have been diagnosed as having Velo-Cardio-Facial Syndrome, Di George Syndrome or Shprintzen Syndrome, depending upon where and by whom he/she was diagnosed. In the case of all of the above diagnoses the cause is probably a genetic disorder involving a deletion of part of chromosome 22.

In genetics the term syndrome means the association of multiple anomalies often present at birth which are caused by a single factor. In this case a deletion of the 22nd chromosome.

How will my child be affected ?
There are approximately 40 anomalies caused by a deletion of the 22nd chromosome. The presence of a deletion does not mean that your child will be affected by all of them. Indeed, some people do not appear to be affected at all whilst some, at the other end of the spectrum, may be severely affected.

It is important that whilst reading through this booklet and any other information which you may obtain, that you are aware of the very different ways in which your child may be affected, and that you should use the information to help you understand exactly how the deletion is affecting your child as an individual and as a guide to what to monitor.

Has my child got a rare genetic disorder ?
This is not a rare syndrome but until recently it has not been easily recognised.

THE PALATE

It is common for children with the 22q11 deletion to have some form of palatal problem which may cause difficulties with speech and swallowing.

Your child may need corrective surgery as well as speech therapy. If he/she does need surgery it has usually proven to be successful.

If you have a baby, you may notice milk coming back through his/her nose or difficulty with swallowing.

If you are concerned about your child's speech, ask your Health Visitor or GP to refer your child to a Speech Therapist and Cleft Palate Team.

Children with 22q11 deletion should not normally have their adenoids removed.

Research suggests that before any palatal surgery, children should be examined for any abnormality of the carotid arteries which might cause complications.

HEARING/EARS

Some children suffer repeated ear infections and have frequent glue ear which can cause temporary hearing loss. It is important that this is investigated as it could hinder speech. A few children appear to have other problems which cause hearing loss.

THE HEART

Some children will have complications with their heart. If you have any concerns about this, you can ask your GP to refer your child to a Cardiologist for investigations. However, it is very unlikely that anything worrying will be found if your child has not had any complications up to now.

Many children have not had any problems at all and some will have needed heart surgery. This is a very stressful and worrying time for the parent and you will probably find that to talk to other parents who have had the same experiences, is a tremendous help.

There are local support groups in most areas which are affiliated to the British Heart Foundation or you can contact the 22q11 Group who also have personal experience of children and heart surgery.

IMMUNE SYSTEM

Some children have a complete or partial absence of the thymus gland. This can prevent the proper development of the immune system. Some children may not be affected at all, whilst other are more severely affected.

Often children will be slightly more susceptible to colds and infections and take longer than usual to shake them off. Children who have severe problems with their immune systems should consult their paediatrician or immunologist before receiving vaccinations.

If you are concerned about your child's immunity, ask your GP/paediatrician to refer your child to an immunologist.

CALCIUM

Some children have low levels of calcium resulting from incorrect functioning of the parathyroid gland. This could be the cause of hypocalcaemia.

Young children may suffer from hypocalcaemic fits which are very similar to febrile convulsions. It is advisable for children with this deletion to have their calcium levels checked regularly.

KIDNEYS

Some children have problems with their kidneys. If you are concerned about frequent urinary tract infections ask your GP to refer your child for investigation.

LEG PAINS

Many children suffer leg pains on exercise or leg cramps at night when resting. For further information, please contact the Group.

FACIAL FEATURES

Children with the 22q11 deletion have similar facial characteristics but these are not often noticeable until you see a group of children together.

Many children with this deletion have dark/red rings under their eyes. This is called suborbital congestion and is nothing to be concerned about. They often tend to keep their mouths open and look as though they may have adenoid problems. In fact, the adenoids in these children are usually small or absent.

Fingers tend to be long, slender and tapered at the ends. Ears tend to be relatively small and low set.

Some common clinical features amongst these children are:

DEVELOPMENT/LEARNING

You may be told that your child is developmentally delayed. This means that in comparison with other children your child is late sitting, walking, talking, etc. There are lots of factors which may contribute towards this and children with 22q11 deletion may be affected in a very complex way.

If your child is developmentally delayed, this does not necessarily mean your child will have learning difficulties.

  1. Some children may have spent long periods in hospital and miss out on stimulation.
  2. Some children may have poor motor skills, coordination and muscle tone. They may have difficulty in catching a ball or less obvious things, like fastening buttons/shoe laces, etc. These children may appear clumsy, knocking over drinks, etc and may have difficulty coordinating left and right hands to perform a task.
  3. Some children may have a palate abnormality which will hinder speech, feeding and swallowing and may cause 'slavering' or dribbling.
  4. Some children may have learning difficulties.
  5. Some children may display certain behaviour associated with specific learning difficulties.

    All of the above will contribute towards your child's learning ability. This does not mean that your child will be unable to learn. This does not mean that your child will have a low intellectual ability.

    It is likely but not necessarily the case that your child will experience some kind of difficulty in this area. Like all the other anomalies, the way children are affected varies.

    LEARNING DIFFICULTIES

    Some of the symptoms commonly related to specific learning difficulties are:

    1. Difficulty discriminating size, shape, colour
    2. Difficulty with time concepts
    3. Poor organisational skills
    4. Difficulty with abstract reasoning and/or problem solving
    5. Disorganised thinking
    6. Often obsesses on one topic or idea
    7. Poor short term or long term memory
    8. General awkwardness - clumsiness
    9. Poor visual perception
    10. Hyperactivity
    11. Overly distractible
    12. Difficulty concentrating
    13. Impulsive behaviour - lack of reflective thought prior to action
    14. Low tolerance for frustration
    15. Excessive movement during sleep
    16. Poor peer relationships
    17. Overly excitable during group play
    18. Poor social judgement
    19. Inappropriate, unselective and often excessive display of affection
    20. Behaviour often inappropriate for situation
    21. Overly gullible, easily lead by peers
    22. Excessive variation in mood
    23. Poor adjustment to environmental changes
    24. Difficulty making decisions
    25. Poor performance compared to IQ
    26. Difficulty copying accurately from a model
    27. Slowness in completing work
    28. Easily confused by instructions
    29. Difficulty with tasks requiring sequencing.


    It is unlikely that any one child will have all of these symptoms. It should also be remembered that most people will have at least two of these problems to some degree.

    The number of symptoms seen in a particular child does not give an indication of whether his/her learning difficulty is mild or severe.

    Whatever your child's difficulties, there are ways in which he/she can be helped to learn. If you would like further information about learning difficulties and how to help your child, please contact the 22q11 Group.

    ATTENTION DEFICIT DISORDER (ADD)

    Your child may have problems similar to those associated with Attention Deficit Disorder, which is a name given to a specific combination of some of the symptoms previously described.

    It is important that if your child has a deletion on chromosome 22 he/she should not be given medication, eg Ritalin, which is sometimes prescribed for Attention Deficit Disorder. Current research has shown that these children may have an adverse reaction to such medication. If you would like further information regarding this, please contact the 22q11 Group.

    MENTAL HEALTH

    A small number of young people/adults with this deletion have experienced mental health problems. If you would like further information about your child's mental health, please contact the group.
    END


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