A cleft lip is a split in the upper lip; a cleft palate is a split in the roof of the mouth. They occur during early development in the womb, when the upper lip or palate doesn’t join together properly. A baby may be born with either defect on its own or both together.

Associated problems include recurrent ear infections (as the defects make children prone to build up of fluid in the middle ear), aspiration pneumonia and speech problems later in life if the defect isn’t treated early.

Who’s affected?

Cleft lips and palates affect around one in 700 babies born in the UK.

Cleft lips and palates sometimes run in families. There’s a slight genetic predisposition, and other developmental abnormalities are present in about half of cases as a result of inherited conditions such as trisomy of chromosome 18.

The risk of a cleft lip or palate is increased by:

However, in many cases the cause remains unknown.

Antenatal diagnosis of cleft lip is occasionally possible during ultrasound scanning. Cleft palate alone isn’t detectable before birth.

A cleft lip is usually repaired surgically at around the age of three months. A cleft palate is usually repaired surgically between six and 15 months.

If a baby is having feeding problems before surgery is possible, a plate may be fitted into the roof of the mouth. Special feeding teats are also available.

As the child grows up, speech therapy may be necessary.

Advice and support

Cleft Lip & Palate Association

Tel: 020 7833 4883

Email: info@clapa.comWebsite: www.clapa.com

Author. Medical Advice By Vivienne Balonwu, Free Medical Advice Online.

Quality Free Medical Advice Online by Vivienne Balonwu. A variety of general health advice and news online.

Brain Tumor

This is the name given to a number of tumours that can affect the brain, where a group of cells grow out of control too quickly and too irregularly. This is the basis for all cancers, and there are different types affecting the brain. These are named depending on the area and cells affected, and there may be more than one name for one type of tumour, which can be confusing. Tumours that originate solely in the brain are called primary tumours whereas other body tumours that have spread to the brain are called secondary tumours.

What causes Brain Tumour?

The cause of brain tumours remains unclear and although many possible causes have been suggested, there is little good scientific evidence for any of them.

What Are The Signs And Symptoms Of Brain Tumor?

Most brain tumours cause headaches, nausea and vomiting in their early stages due to the increasing pressure developing within the head as the tumour grows. The type of headache is often characteristic in that it is usually worse in the morning (sometimes bad enough to wake you up) and on coughing, sneezing or bending forward – i.e. any activity that increases the pressure in the head temporarily.

Another sign may be an epileptic fit, or seizure that can occur out of the blue and which may be very frightening. Blurred or double vision is relatively common also, as is early morning sickness often linked to the headache.

It is often the case that any other symptoms experienced are linked to where in the brain the tumour is located. Thus, tumours at the front of the brain can cause mood swings, personality disorders and weakness of one side of the body whereas ones at the side of the brain can cause strange smells, blackouts or feelings of deja vu.

Will I Have Any Tests Or Investigations?

Your doctor will refer you to a neurologist or a neurosurgeon – consultants who specialize in diseases of the brain and nervous system. They will do quite a number of tests, starting with a very detailed physical examination. This will include;

• An examination of the back of the eye using a special type of torch (an ophthalmoscope) – this can see whether the optic disc at the back of the eye is swollen, a sign of raised pressure within the brain (raised intracranial pressure).
• Hearing tests.
• Examination of the tongue, facial muscles and reflexes.
• Testing for power and sensation in the arms and legs.

Other investigations are then usually performed to confirm the presence or otherwise of any brain tumours including special brain scans. A CAT (computerised axial tomography) scan is a special X-ray that takes a series of pictures of the head and so builds up a cross-sectional image of the brain. A dye is injected into your arm to help the detail of the pictures here.

A similar scan, but one that uses magnetism instead of X-rays is an MRI (magnetic resonance imaging) scan, and involves slowly passing through a long cylindrical tube whilst lying completely still as the scan is taken. Dye is used as in the CT scan, and both types of scan are painless.

A newer type of scan, and one which is not always readily available, is a PET (positron emission tomography) scan where radioactive sugar solution is injected, and can show whether a tumour is benign or malignant, or whether it is active at present. The dose of radiation is no greater than that used in an ordinary X-ray, and there are no harmful side effects from it.

A chest X-ray is taken as standard, as is a skull X-ray which can occasionally show up tumours on them. An EEG (electrencephalogram) records the electrical activity within the brain, with wires being painlessly attached to the head using a special gel that washes out easily afterwards. This gives a tracing of the brain nerve impulses in the same way that an ECG test records the activity of the heart.

To find out exactly what type of tumour is being dealt with, a biopsy is the only definitive test. Under anaesthetic, a small piece of the tumour is removed and examined under a microscope, allowing exact diagnosis of the tumour to occur.

What Treatment Will I Need?

This depends on whether the tumour is a primary or secondary tumour, and the type of primary tumour involved if it is this type. With primary tumours, the best treatment is to remove them surgically, often followed by radiotherapy (X-ray) treatment to ensure any tumour cells that may have been left behind are killed. If such surgery is not possible, chemotherapy (anti-cancer drugs) are used as the main treatment in courses usually lasting several weeks. Other treatment may also be needed at the same time, such as medication to prevent any fits or to reduce the pressure inside the brain due to swelling.

Secondary tumour treatment depends on where these have arisen from (e.g. breast or bowel cancer). The usual treatment is radiotherapy to shrink down these secondary cancers as well as treating the primary tumour according to its type and location. With secondary tumours, the whole aim of treatment is to reduce any symptoms and improve the quality of life in general.

What Course Will The Illness Follow?

This is individual for each person, and your specialist will be able to give you very good advice as to what symptoms you may expect, and how readily your tumour should respond to treatment. It should be remembered that many people have brain tumours and are treated in many different ways, so the fact you are having a different treatment to another patient does not necessarily mean yours is a more serious type.

Can I Do Anything To Help Myself?

A positive mental attitude is important at this time, and there are many self-help groups that are able to give practical and pragmatic advice to help you through your treatment. If you are unsure about any aspect of your treatment – ask. Your doctor or specialist should be only too happy to try to answer your questions and reduce any unnecessary anxiety.

Tell Your Doctor

1. Have you been woken up at night by a headache?
2. Have you been sick?
3. Do you have any problems with your eyesight?
4. Have you been falling over or more clumsy recently?
5. Do you feel generally unwell?

Ask Your Doctor

1. How risky is brain surgery?
2. Will I lose my hair with treatment, and what are any other side effects?
3. Do I have to stop driving?
4. Will I need to stay on anti-epileptic drugs for life?
5. How soon can I return to work after treatment?

By Dr Roger Henderson, MB BS Lond., LMSSA Lond. Published by Dr Vivienne Balonwu at Free Medical Advice Online.

Useful Contacts:

Cancer Research Campaign
Address: 10 Cambridge Terrace, London, NW1 4JL
Telephone: 0171 224 1333
Website: http://www.crc.org.uk

Quality Free Medical Advice Online by Vivienne Balonwu. A variety of general health advice and news online.

Sickled Red Blood Cells

This is an inherited blood disease, mainly affecting Afro-Caribbean’s and black Americans/Africans but is not an exclusively ‘black’ disease – it simply affects a disproportionately higher number of people than a Caucasian population. It affects the haemoglobin in the blood, which is the oxygen-carrying part, and is one of the commonest inherited blood diseases.

The abnormality means that the distorted or ‘sickled’ red blood cells are much more fragile than normal red cells and so are more likely to burst or rupture. This causes the symptoms, and also can cause anaemia – known as sickle cell anaemia. People with sickle cell disease who are especially prone to problems include pregnant women, dehydrated people or those undergoing an anaesthetic, or if body injuries occur.

What Causes Sickle Cell Anaemia

This is a genetic condition, passed on by parents to their children. For it to occur, a sickle cell gene must be inherited from both the father and mother, so that an affected child has two sickle genes. If just one is present, this is known as a sickle cell trait rather than sickle cell disease, and sickle cell trait does not cause sickle anaemia. If two parents with sickle trait have a child, this child has a one in four chance of having sickle cell anaemia. Sickle cell trait has a greatly lowered incidence of symptoms, with a normal life expectancy.

Signs And Symptoms Of Sickle Cell Anaemia

These are due to problems of the circulation, caused by the abnormal ‘sickle’ shaped red blood cells blocking the normal flow of blood through the body, and so reducing the oxygen supply to organs. Such an episode is known as a sickle ‘crisis’, and causes varying symptom severity depending on the organ involved and the degree of sickling. Such symptoms include;
 
¤ Fatigue and other symptoms of anaemia.

¤ Severe pain.

¤ Swelling of the joints.

¤ Leg ulcers.

¤ Repeated bacterial infections, with lung and heart involvement.

¤ Eye and visual disturbances.

The treatment of these symptoms and of sickle cell disease in general is aimed at whatever individual features are present, and so is a highly individual treatment, with no single treatment available to reverse any long-term damage from repeat crises.

Will I Have Any Tests Or Investigations?

The way of diagnosing the disease is to take a simple blood test and look at the abnormally shaped sickle cells under a microscope – a procedure sometimes called a ‘sickle preparation’. A further special blood test called a haemoglobin electrophoresis test accurately identifies blood haemoglobins and sickle blood has a characteristic pattern.

It is now possible to do tests for sickle disease on an unborn baby by using an amniocentesis or chorionic villous sampling method. This is performed by an obstetric specialist and the sample of blood or amniotic fluid is DNA analysed for the presence of sickle cell disease. The lung damage in sickle disease – where small areas of lung tissue die due to a lack of oxygen – can be very difficult to distinguish from pneumonia on ordinary chest X-rays and so a special test called an angiogram is sometimes used to try to differentiate between the two, where dye is injected into the affected area of the lung.

What Treatment Will I Need?

The current treatment is primarily aimed at managing the individual features of the disease as they occur. The anaemia usually settles without specific treatment but occasionally the low level can be such that blood transfusion is required in hospital. A sickle crisis is often extremely painful and requires strong analgesics, oxygen and high fluid input – intravenously if necessary. The drug hydroxyurea is sometimes used in a sickle crisis to help relieve the pain but must be closely monitored for side effects as it may be toxic to bone marrow.

In children with sickle disease, pneumonia is one of the commonest reasons for hospital admission and this is usually due to a bacterium called Pneumococcus. Prompt treatment with antibiotics is needed to reduce any complications or life-threatening infection overwhelming the body.

What Course Will The Illness Follow?

The great majority of people suffering from sickle cell disease suffer repeated attacks of infection, pain crises, anaemia and repeated, progressive damage to internal organs. Most have a reduced life expectancy of the fourth or fifth decade, with bacterial infection being the commonest cause of death at any age. There may be progressive damage to the kidneys, heart, lungs liver and brain, although it is possible for some patients to have virtually no symptoms for months or years at a time – this however tends to be the exception rather than the rule.

Can I Do Anything To Help Myself?

It is important to recognise the early signs of sickle disease and report these promptly to your doctor. Genetic counselling is also playing an increasingly important role in helping to reduce the incidence of the disease since if each parent is a carrier of the illness any offspring has a 50 per cent chance of being a carrier and a 25 per cent chance of inheriting both genes being affected with sickle cell disease.

Tell Your Doctor

1. How recently did your symptoms start?
2. Have you had similar symptoms before?
3. Do both your parents have sickle disease?
4. Have you had a blood test for anaemia recently?
5. Do you have bad pain?
Ask Your Doctor

1. Will I need to go to hospital?
2. Can my spouse and I have genetic tests before we have any children?
3. How long is it usual to stay in hospital?
4. What are any treatment side effects?
5. Should I keep antibiotics at home in case of infection?

By Dr Roger Henderson, MB BS, LMSSA

Free Medical Advice on Sickle Cell Anemia by Vivienne Balonwu.

Quality Free Medical Advice Online by Vivienne Balonwu. A variety of general health advice and news online.

Down’s syndrome is a condition of childhood and adult life in which the individual shows delay of mental development. The child is slower to learn normal physical skills and mental tasks. Intellectual development is impaired into adult life. The condition is incurable and children born with Down’s syndrome will have it all their life.

Down’s syndrome results from abnormal cell division in the earliest days of the embryo’s life (see later). The overall incidence is about 1 in every 700 live births, but there is marked variability in incidence depending upon maternal age. In younger mothers, the incidence is about 1 in 2000 live births; but for mothers over 40 years of age this rises to 1 in every 40 live births. As the number of older mothers having babies has risen rapidly in recent years so too has the need for ante-natal screening to detect the condition early in pregnancy. Some children with Down’s syndrome are born to younger women. A couple who have had one child with Down’s syndrome are at increased risk of having another.

Children with Down’s syndrome are happy, contented children who show relatively little in the way of behavioural problems and who usually have a loving and intimate relationship with their parents. While a lower than average IQ is common, many have normal IQs and can be taught in normal schools. These days, parents who have a child affected by Down’s syndrome have every reason to be optimistic about their future.

What Are Downs Syndrome Causes?

Down’s syndrome results from abnormal cell division in the very earliest days of the human embryo. Very shortly after the egg has been fertilised by the sperm, it divides into two cells. Normally there will be 23 pairs of chromosomes (ie 46 chromosomes) in each divided cell. In Down’s syndrome, one of these chromosomes (known as chromosome number 21) divides again, with the result that there are three and not two of this chromosome in each cell (ie a total of 47). Thereafter every cell of the body will show this same pattern. The presence of this extra chromosome 21 in each cell is associated with the development of Down’s syndrome (which is also known as ‘trisomy 21’).

What Are The Characteristics Of Downs Syndrome?

The diagnosis is usually made at birth when the new-born baby is noticed to possess various characteristic features. Any one of these features can occur in normal people as an isolated peculiarity. When they occur together, however, Down’s syndrome becomes more likely.

These peculiarities may include:

• a small round head with a short, broad neck
• a flat face and short nose with a flat bridge
• an upward and outward slant to the eyes which may have heavier skin folds around them than is usual
• small white spots on the iris
• a largish, furrowed tongue
• broad hands with short fifth fingers

Some children with Down’s syndrome have heart problems, particularly atrial and ventricular septal defects (ie holes in the heart). They tend to suffer from more catarrhal upper respiratory tract infections than other children, perhaps associated with the shape of their faces.

Will there be any tests or investigations?

The diagnosis of Down’s syndrome may be confirmed by analysis of chromosomes using tissue culture. White cells taken from the blood are commonly used for this purpose though cells taken from the lining of the mouth can also be used.
The risk of having a baby with Down’s syndrome rises with the age of its mother. It is common practice for mothers over the age of 40 to be offered screening tests early in their pregnancy through which the risk of carrying a baby with Down’s syndrome can be assessed. A variety of screening tests are available including:

• estimation of nuchal skin fold thickness (the thickness of skin on the babies neck as shown on an ultrasound scan)
• blood tests to detect abnormal proteins
• amniocentesis (a sample of the fluid surrounding the baby in the womb is withdrawn using a needle through the mother’s abdomen. This is then subjected to genetic tests)
• chorionic villous sampling (in which a small piece of the placenta (afterbirth) is sampled and subjected to genetic testing).

There is no consensus in the UK regarding which of these tests or which combination of tests should be offered. Policies vary according to availability in a particular locality.

What treatment might be necessary?

Though treatment may be needed for abnormalities that are part of the Down’s syndrome – eg heart defects – there is no treatment for the syndrome itself. Nevertheless, children born with Down’s syndrome are pleasant, amenable and loving. Their mental and physical development is likely to be slower than for a normal child so special schooling, speech therapy and play therapy will be useful. Parents can be taught techniques to assist learning at home. The aim is to raise the child’s abilities to a level at which he/she can be taught in a normal school and thereby gain the social skills which will enable him to live in his own home and to achieve a high quality of life in normal society. Many children with Down’s syndrome do not achieve this level of ability and find learning and living easier and happier in the protected environment of a special school and/or a sheltered community.

Tell Your Doctor

• if you are intending to get pregnant and ask for pre-conceptual advice
• if you or any member of your family has had a child with Down’s syndrome
• if you have any concerns about your pregnancy

Ask Your Doctor

• where you might obtain pre-conceptual genetic advice locally
• the location of the nearest specialist ante-natal screening centre
• what is the normal routine of screening for Down’s syndrome and other pregnancy problems in your locality

By Dr Peter Stott

Useful Contact

Downs Syndrome Association
Address: 15 Mitcham Road, Tooting, London SW17 9PG
Telephone: 020 8682 4001
Fax: 020 8682 4012
Helpline: 020 8682 4001
Email: info [at] downs-syndrome.org.uk
Website: www.dsa-uk.com

Quality Free Medical Advice Online by Vivienne Balonwu. A variety of general health advice and news online.