Health Watch

Caring for children with Down Syndrome

Nipuni Wimalapala

Down Syndrome is not only seen in Sri Lanka, but it is the commonest chromosomal abnormality found in children everywhere in the world.

It is caused by the presence of one extra chromosome in the cells, said Prof. Vajira Dissanayake, the President of Sri Lanka Medical Association who is attached to Colombo Medical Faculty emphasizing the significance of World Down Syndrome day which fell on March 21.

According to Dr. Dissanayake, Down Syndrome is a set of mental and physical symptoms that result from having an extra copy of Chromosome 21. Every chromosome we have a pair, one copy from the mother and the other one from the father. There are 23 pairs. Chromosome 21 is the extra one from which Down Syndrome occurs. The extra one could be either from the mother or the father. However it is the commonest way of causing Down Syndrome. In most people with Down Syndrome, there is an extra copy of Chromosome 21 which changes the body's and brain's normal development.

“Another possibility is when the extra chromosome is not a separate one, but it is attached to another chromosome. We call it translocation Down Syndrome. It could sometimes come from a parent who has it within him or her, but still normal. It is generally rare. Mosaic down syndrome is the third variety where the child has both normal cells and abnormal cells. Usually what happens is, the child conceives normally, but when the cells divide, it gets an extra one. This is very rare”, said Dr. Dissanayake.

“Generally we get the first one in most of the cases. Inside the chromosome we get DNA where the genes are located. Genes are there to produce proteins.

When there is an extra chromosome, what happens is, the protein production increases. Those proteins go and stay in different places of the body. Mainly they go to nerves which results in creating problems. Nerve cells get damaged and they cannot be cured.

As a result, baby gets different problems. Baby becomes a slow learner. There will be a number of physical and mental disorders due to that”, he further explained.

But as he said, eventually the baby will do everything. It takes much time. They should be given proper support. He or she cannot be totally cured. But stimulation works well to make him do most of the things which normal children do. Physical therapies will motivate the baby. Those days down syndrome babies were very backward. But the situation has changed today. Because of the excessive stimulations, they get motivated and they are not that backward anymore.

Diagnosis

According to the doctor, diagnosis of Down Syndrome basically depends on the features of the baby. Parents cannot make out them properly but doctors do find. Normally their nose is flat, ears are slightly down and small, they put their tongue outside the mouth since tongue is bit larger compared to the size of the mouth, they keep neck in a different way, because their neck muscles do not develop well.

The child should be trained well to behave well and never punish them. Followings are the basic features.

* Flat face with an upward slant to the eye, short neck, and abnormally shaped ears
* Deep crease in the palm of the hand
* White spots on the iris of the eye
* Poor muscle tone, loose ligaments
* Small hands and feet

There are a variety of other health conditions that are often seen in people, who have Down Syndrome, including:

* Thyroid dysfunctions
* Child's skin is very dry or the child is very constipated
* Congenital heart disease
* Hearing problems
* Intestinal problems, such as blocked small bowel or esophagus
* Celiac disease
* Eye problems, such as cataracts
* Skeletal problems
* Dementia-similar to Alzheimer's

Most of these can be easily treated and corrected at the very beginning. Some of them are probably 100 percent correctable and the responsibility of the parent's is to take the child to a doctor and get the needed things done properly. Though the baby is floppy and little slow, the foremost thing is to look after the baby as a just a normal child and today it is said to send the baby to a normal school. Without treating them differently, they should be treated as just normal people. Especially this happens in other countries where some of these children go for higher education even. The basic thing is stimulation through which a lot of thing could be achieved.

“My advice to the parents is to first observe the child and find out his or her potentials. Most probably they possess high artistic capabilities. It is very interesting and effective to develop them. Because it is obvious that everybody cannot be a doctor, lawyer, engineer or an accountant. But everybody has a unique capability and the parents should try to make these children productive and effective in a certain mean. Do not worry telling that our baby is abnormal and he or she cannot be cured. It is useless. I highly advise the parents to do more stimulation to motivate the child which will help lead him a normal life. Also try to find out a parent's association from which you can find out more things to make your child productive. There are some good parent's foundations in Sri Lanka which do a lot of work for the Down Syndrome children. Sometimes rather than doctors, parents know a lot about these children”, Dr. Dissanayake stressed.

“In most cases, Down Syndrome child is the first child of the family. Of course Parents get scared and do not want to have a second child.

The recurrence depends on the three types mentioned above. During the pregnancy it is easy to find whether the child is normal or abnormal. But due to the prevailing law we have to accept whoever the baby is. But I should say that those who have not experienced these children should put themselves in the shoes of the parents and experience the difficulties they go through. However the parents who already have a Down Syndrome child should meet doctors and get reassured that they are not in the risk of having another down syndrome baby”, he further advised.

Your eyes, your life

Madhubhashini Rathnayaka

Most people take for granted the ability to view the wonders of the world using two healthy eyes. We assume that we will have good eyesight throughout most of our life. Many people are not aware of the fact that they should take control of their own eye health in order to have good vision.

The Assistant Secretary of Ophthalmic Technologists' Association Nishantha Jayasekera commented that 80% of eye diseases are avoidable provided there is an early diagnosis and treatment is carried out by a qualified practitioner.

According to Jayasekera there is an issue of the qualifications of opticians in our country and the general public need to be aware there are many unscrupulous people who set themselves up in business and are not qualified to treat the unsuspecting public. You can find qualified practitioners like eye surgeons, consultants and ophthalmic technologists in government hospitals.

There are about 400 private eye-care clinics disseminated all over the country and about 160 qualified ophthalmic technologists and about 15 practitioners with overseas degrees or trainings working in them, but the qualification of other opticians working in such clinics is questionable and also there is no any tool in validating the qualifications of such private practitioners relating to eye-care in Sri Lanka. Jayasekera says there is a great need for a government monitoring system of qualifications of the professionals and also private clinics in the field of eye care. He emphasized the importance of consulting a qualified ophthalmic technician or a doctor at a government hospital for free.

Reasons like unawareness, going for wrong treatment can create a lifetime loss. Thus specially regarding the eye sight of children, the parents and the classroom teachers can play an important role in identifying those who have a problem with their eyes. Often they will be more aware of a child who has problems in reading or seeing the blackboard. Often this can be related to a problem with eyes.

“Vision 2020 which is a joint programme of the World Health Organization (WHO) and the International Agency for the Prevention of Blindness (IAPB), is active in Sri Lanka with the partnership of the government and conducts vision care programmes in schools in Central Province with the mission of eliminating avoidable blindness. “ He said.

Teachers are given training in identifying visual problems, and then the children and their parents can be given help to find out where to go for appropriate treatment. He moreover mentioned that in Sri Lanka the number of persons who are becoming blind due to eye infections has been decreased mostly as a result of the efficiency of health system.

But people should be much more aware of the eye problems like Cataract, Glaucoma, Reflective Errors, Focusing Errors etc. For instance blindness in age of 40, though many people assume it will be naturally cured and it does not much affect your long-term eye vision, it should be treated. Even when you are choosing your sunglasses, be sure whether they are with Ultraviolet protection.

Taking care of your eyes is your responsibility. Students should make sure that they take regular breaks when they are studying no matter whether they are using books or a computer. Where possible wear special protective glasses when you are working or grinding in dusty conditions and using poisons. Be conscious of any slight change with your vision or mechanism of your eyes and go for an early diagnosis using a qualified professional.

Poor literacy ‘increases early death risk for elderly’

One in three adults aged over 65 in England have difficulty understanding basic health-related information, suggests a study in the BMJ.

They are more than twice as likely to die within five years as adults with no literacy problems, it was found.

The University College London study tested nearly 8,000 adults on their understanding of aspirin instructions.

The Patients Association said patients should help draft information leaflets so they are “relevant and clear”.

The researchers, from the department of epidemiology and public health at University College London, said that limited or low health literacy among older people has implications for the design and delivery of health services for this section of the population.

Using a short test containing four questions, based on instructions similar to those found on a packet of aspirin, the researchers assessed the participants’ ability to read and understand the information.

They found that 67.5% had high health literacy (achieved the maximum score), 20% were classed as medium (made one error) and 12.5% had low health literacy (got two, one or no questions correct).

In the study, almost half of the adults aged over 80 could not correctly answer all four questions, compared to one-quarter of the adults aged 60 or less.

‘Worrying’

The study followed the participants for an average of five years after the test.

During this time, 6.1% (321) died in the high health literacy category, 9% (143) in the medium category and 16% (157) in the low literacy category.

The researchers said that lower health literacy was linked to a higher prevalence of depressive symptoms, physical limitations and chronic diseases, such as heart disease, diabetes, stroke and asthma - but higher health literacy scores were linked to stronger cognitive abilities, including verbal fluency and working memory, they said.

When researchers adjusted for factors such as wealth, education, income, ethnicity and basic health, the link between low health literacy and mortality risk reduced, “but remained significant”, the study said.

Katherine Murphy, chief executive of the Patients’ Association said it was worrying that so many people struggle to understand health-related information.

“How are patients expected to make informed decisions if they do not fully understand the information being given to them?

“Patients must be involved in the development of these information leaflets from the outset to make sure they provide relevant and clear information.” Michelle Mitchell, director general of Age UK, said health professionals have a responsibility to give patients information that makes sense.

“That way, patients will be better empowered to manage their own health conditions and make the positive lifestyle choices that lead to better health and wellbeing.”

-BBC’

Signs and symptoms of stroke

Pls send your questions on stroke to Healthwatch, C/O Features Editor, Daily News-Editorial, Lake House, Colombo. Dr. Githanjana Mendis will answer them.

Consultant Neurologist Dr. Geethanjana Mendis in an interview with Edward Arambewala talks about the signs and symptoms of a stroke as it is very important for the public to know about it so that they can take early action to save themselves and others in their families becoming victims of this deadly disease.

The medical term for a stroke is Cerebro-Vascular accident.

A cerebro-vascular accident (C.V.A.) is usually due to an intra cranial haemorrhage which means bleeding into the brain tissues as a result of a ruptured blood vessel. A CVA can also be caused by a blood clot in one of the arteries in the brain leading to the death of brain cells supplied by that artery. The other cause for a stroke is a brain tumour (known to the medical profession as a ‘Space occupying lesion'(SOL).

Signs and Symptoms

Loss of consciousness, sudden onset.

Weakness of one side of the body, usually upper and lower limb. May be associated with facial paralysis of the contra-lateral side. When the CVA happens on the left side of the brain, you get left facial palsy and hemiplegia of the right side of the body and vice-versa.

Confusion and loss of memory. Loss of speech (aphasia) when speech area of the brain is affected. Rarely you can get slurring, stammering and stuttering. Prognosis is poor.

Difficulties in swallowing (dysphagia).

Loss of bladder function and loss of bowel function (incontinence).

In long-standing cases

Spasticity and sensory loss in the affected side of body.

Bed-sores and oedema of affected limbs.

Causes or predisposing or contributory factors are Hypertention: Hypertension is the main factor contributing towards a stroke. About 70% of all stroke patients, Smoking: Smoking is very often an associated factor, Diabetes Mellitus: about 10-15% of stroke patients.

Plant compounds tied to fewer heart deaths

Older adults who get a moderate amount of certain plant compounds in their diets are less likely to die of heart disease or stroke, a large study finds.

The research, on nearly 100,000 older U.S. adults, found that those getting the most flavonoids in their diets were less likely to die of heart disease or stroke over the next seven years than those who ate the least flavonoids. The compounds are found in a range of plant foods, including many fruits (like berries, citrus and apples) and vegetables (like kale, spinach and broccoli), nuts, soy, dark chocolate, tea and wine.

Research shows that flavonoids have a number of benefits, including fighting inflammation and acting as antioxidants -- which means they help protect body cells from damage that may lead to chronic diseases and cancer.

In the current study, the researchers divided participants into five groups according to the amount of flavonoids in their diets.

The one-fifth with the highest flavonoid intake were 18 percent less likely to die of heart problems or stroke than the fifth with the lowest intake.

That difference is “modest, but still relevant,” said lead researcher Marjorie L. McCullough, of the American Cancer Society in Atlanta.

Given that heart disease and stroke are so common, even a modest risk reduction can make a big difference on the population level, McCullough noted in an interview.

It's not clear that flavonoids, themselves, actually lowered people's cardiovascular risks. But flavonoid-rich foods are the types of foods we should be eating anyway, McCullough pointed out. “This provides further support for getting more of those foods in your diet,” she said. The findings, reported in the American Journal of Clinical Nutrition, are based on more than 98,000 men and women who filled out questionnaires on diet, lifestyle and medical history. At the time, they were about 70 years old, on average.

Over the next seven years, 2,771 people died of heart disease or stroke. That included 615 deaths in the fifth with the lowest flavonoid intake at the outset, and 515 deaths in the fifth with the highest intake.

When McCullough's team accounted for other factors -- like smoking, exercise habits and weight -- people getting the most flavonoids had an 18 percent lower risk of dying from cardiovascular trouble.

Flavonoid-rich foods also contain many other healthful nutrients, McCullough said. So it's hard to know whether the compounds, themselves, deserve the credit for the lower cardiovascular risks.

For example, another recent study linked magnesium-rich foods, which include nuts and dark leafy greens that are also high in flavonoids, to lowered stroke risk. The bottom line is that getting more plant foods in your diet may make a difference in your health and longevity, according to McCullough.

And these findings suggest it may not take a huge diet change, she said.

The people with the highest flavonoid intake in the study averaged about 20 servings of fruits and 24 servings of vegetables per week. The lowest-intake group got about 11 servings of fruit and 18 servings of vegetables per week.

Lower risks were also seen among older adults whose flavonoid intake fell in between the highest and lowest groups, however.

“So even adding one serving of flavonoid-rich food a day could be beneficial,” McCullough said.

In general, experts recommend getting plenty of fruits and vegetables for the good of your overall health. The “DASH” diet recommended for lowering blood pressure and protecting your heart suggests four to five servings of fruit and the same number of vegetable servings each day.

A half cup of cooked vegetables or a medium-sized piece of fresh fruit would be examples of a serving.

One caveat, McCullough said, is to be careful not to douse your flavonoid-rich foods in sugar, fat or salt. “Try to keep them close to their natural form,” she said.

-Reuters