Sunday Observer Online


Sunday, 30 March 2014





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Autism test - a must for delayed language skills

Early intervention is important:

Autism is a complex condition starting in early childhood. Most parents of autistic children are often confused as to why and how their children developed this condition, and ignorant as to how they should handle them in the right way.

Child psychiatrist, Department of Psychological Medicine, University of Colombo, Faculty of Medicine and Lady Ridgeway Hospital, Prof. Hemamali Perera, answers some key questions on autistic children in this interview with the Sunday Observer.


Q. What exactly is Autism? Is it a disease? A condition of the mind?

A. Autism is not a disease. It is more correct to call it a developmental disorder, where development of the brain is affected from very early stages.

Q. What age group is most at risk of developing autism?

A. There is no particular age group in developmental problems. The development is already affected even before the child is born.

Q. Is Autism inherited? Can someone carry it in his/her genes and pass it on to an offspring?

A. The condition is genetically determined. There is a very high heritability. The genetic vulnerability may come from either parent. As it is more prevalent in males, the carrier of the genes is more often the father, but mother also can be the carrier. At the same time, if a child has autism, there is a rather high risk of the next sibling also being a child with autism, especially if it is a boy.

Q. How early does the onset of the disease begin? In the womb? The first year of life? Or later?

A. As I said, it is already determined in the very early stages of the development of the brain in the foetus that a child is destined to have autism

Q. Are there degrees of autism? Are there children with Mild, Moderate, or Severe Autism? What causes these differences?

A. While there are common clinical features that determine autism, the intensity of these features and the degree to which they affect the child's functioning as an individual, falls into a spectrum. At the worst end would be children who are severely affected and they would be intellectually impaired, may never develop language and may even have other neurological disorders such as epilepsy.

At the opposite end of the spectrum are the children who are intellectually normal or even superior. The term 'high functioning' is often used to refer to these children. They may even have savant skills in certain abilities such as music or art.

The majority fall in between these two ends and are moderate or mild. It is not exactly known what causes the difference, and whether this could be predicted with regard to outcome in later life. It may mean that the genetic factors involved are also quite complex.

Q. What makes an autistic child different from a normal child?

A. The difference from a normally developing child is not in the external appearance but the functioning and behaviour. The difference is mainly in the areas of social interaction and social communication.

Q. Does autism affect a child's way of playing and his general habits?

A. A child with autism prefers to play alone and are restricted in the choice of play and play material that they use.

For example, they may play with one single toy even when there are plenty around them. Sometimes the preferred play material is a piece of string or a cloth rather than a proper toy. In older children, group play activity is not favoured. Even if they do play, they would want to have it their way rather than play together.

Q. What about their relationships with other children?

A. Children with autism do not understand relationships. They do not understand the concept of a friend. They may not be sensitive to the feelings of others, which makes associating with such a child rather challenging to the peers. Also, the child with autism will not understand why he / she is rejected by peers.

Q. What about their emotional relationships with their parents and siblings?

A. As I said, children with autism do not basically understand relationships. Hence relationships with their parents and siblings are similar to their peer relationships. They often do not like physical closeness. Some children may adversely react to being cuddled or hugged.

They may not reciprocate affection shown by parents. They often ignore when called by name to the extent that parents may wonder whether their child can hear. A parent would notice that they do not play with their brothers and sisters, but play alone.

Even if they play alongside with them, they will not share with a sibling.

Q. On the subject of behaviour, how early can one detect autism in child? What are the symptoms to look for?

A. It used to be thought that a definite diagnosis of autism is not possible until the child is three years. Now it is accepted that diagnosis is possible even before 12 months of age. By 18 months, a definite identification is possible.

However, there are many children who appear to be developing normally in speech and relationship with others but regress in these abilities when they reach around 15 months or a little later. These children have not been exactly normal in their development but parents perceive them as being such when regression of skills occurs.

The most important sign to look for is the delay in development of language. All children who otherwise seem to be developing well, but delay in acquiring language, should be assessed for autism. This is important especially in the context of the high prevalence we have in Sri Lanka and all over the world.

The other important signs are the avoidance of eye contact with others, desire to avoid interaction with others but be alone, unusual play and not pointing to ask for things. In addition, these children have repetitive movements of hands or fingers or odd gesturing.

Q. Do these symptoms get worse as they get older? Is the behaviour of primary school autistic children different from those in their adolescence ?

A. Limited social communication and social interactions will continue into adolescence and beyond. Children who are intellectually able will learn from experience how to survive in the society, as they grow older. Odd behaviours such as mannerisms and rigid preferences are likely to continue.

Q. What about their sleeping habits? Do they sleep through the night or do they wake up constantly? Do they get frightened easily? If so why?

A. There are no specific sleep problems that are unique to autism. Sleep is normal in the majority. Few may have unusual sleep patterns such as regularly going to bed late. With some children, parents may wake up in the night to find their child quietly playing.

Q. Food habits? Can they feed themselves? Are they fussy eaters? Do they know what they are eating?

A. Some children have food preferences and their choice of food items can be severely restricted. Unless there are behaviour problems associated with eating-for example refusing to touch food, they are independent in feeding themselves. Children with food fads will avoid certain textures or tastes of food.

Q. What about their IQ? Do most autistic children have low IQs or are there exceptions? Is it true that some are very talented in a certain field of activity such as music, painting, maths, while some are computer wizards? How are they gifted and retarded at the same time?

A. Until recent times, children with autism were thought to be intellectually less able. Our experience is rather different. Many children learn many things at a young age but will not demonstrate their ability on request.

Sometimes they will work only with their parents. Teachers may not even realize that the child is able to read and write well and will be reluctant to believe the mother.

There are also children with autism who are gifted in the fields you have mentioned. We have seen children with amazing rote memory and ability for calendar calculation.

Q. Are there tests to diagnose autism ? What are they?

A. Diagnosis is through clinical observation. There are screening tests but the ultimate judgement is based on clinical findings.

Q. Who should a parent

approach once their child has been diagnosed as autistic?

A. Knowledge about autism among the general public is crucial. Many parents reassure themselves that the child will grow out of their problems and thereby delay in seeking help.

Early intervention is absolutely important as we are talking about helping development. When late, the interventions are often compromised.

Parents can go to any doctor when they suspect possible autism. However, the intensive assessment that is needed for diagnosis is currently done by only a handful of child psychiatrist or paediatricians.

Q. Is psychiatric or psychological counselling preferable for these children? What is the difference?

A. Counselling is irrelevant. What is needed is a well-structured intensive programme to help in developing deficient skills.

Q. What about training for parents and caregivers?

A. Training parents to carry out a home-based program is very important, simply because resources are limited outside, and the amount of time the child needs is possibly only at home.

Q. What about trained teachers to help them overcome learning and speaking disabilities? Do you think we have enough?

A. This is a massively under-resourced area. Teachers in mainstream education have very poor knowledge and are ignorant about managing these children.

There are about 4,000 children with autism who enter Grade one each year if you use the prevalence rates to determine this number. There are many who can fit into the school curriculum. I have already mentioned that some of them have very high IQ probably the highest in that class. Education sector is not organized to give these children a fair chance or provide for their right to education.

A training program is now planned by the Ministry of Education to train teachers on managing children with special educational requirements in main stream classes. Though late, this is a very positive move.

Q. At the LRH how are these children helped? Do you have special centres?

A. We have a program at LRH to diagnose and train parents on home-based intervention. There are centres in the private sector. I am unable to comment on their quality.

Q. What are the myths surrounding autism?

A. Some people are misinformed that autism is caused by immunisation. This is totally false. You run the risk of endangering the child's life by denying the protection provided by vaccinations.

There are many cultural and religious myths that are applied to any developmental problem in children which are barriers to getting early attention the child needs.

Q. What kind of diet is needed for them?

A. There are some myths and misinformation about particular diets to be avoided in children with autism. A lot of information in this regard is available on the Internet that people read.

There is no scientific basis for any of this and a child should not be deprived of quality nutrition based on this kind of information. No child with autism has ever improved in autism behaviour by avoiding certain diets.

Q. What is the main theme of this year's Autism Day?

A. The main aim is to raise awareness and pressure the governments to provide for the health, education and social welfare of children with autism.

Q. Your message to parents? Caregivers?

A. If your child has not developed language to an age appropriate level by 18 months, consult your doctor. This is particularly important if the child also does not give eye contact, plays alone, and has repetitive purposeless movements of hands or unusual gesturing.

Elderly women may benefit from higher amounts of protein

Elderly women could benefit from consuming 29 percent more protein than the current nutrition guidelines recommend, according to new research from Purdue University.

"Our data suggests that the current dietary protein requirement estimate may be too low and reinforces that more research is needed to identify accurate protein amounts for older adults," said nutrition science professor Wayne W. Campbell, an expert on dietary protein and human health.

"I think the current recommended dietary allowance values serve an important role in that they are the foundation that guides national and international feeding programs, but these findings, along with previous research, indicate that consuming amounts of protein moderately above the current recommended dietary allowance may be helpful."

The current recommended dietary allowance for women older than 70 years is 0.36 grams for each pound of body weight or 46 grams of protein for a 130-pound woman. This amount is the same for all women 19 and older. "The current dietary reference intakes for elderly adults rely on data collected from younger people and extrapolated to include elderly people.

Also, the scientific method used for the past 50 years to determine protein needs is not an ideal technique for older adults," said Campbell.

Campbell worked with the scientists who developed a new non-invasive method to evaluate protein amounts.

The indicator amino acid oxidation method has been used in children and young men, and this is the first time it was used in an elderly population. In this study, six women, ages 80 to 87 years, consumed beverages with 20 amino acids, the building blocks for high-quality proteins, including phenylalanine and tyrosine, on seven different testing days during the three-month study.

The amounts of amino acids in the beverages were different each testing day and a tracer isotope was measured from their breath and urine samples collected periodically during each eight-hour testing period.

- Medicalxpress

Scientific breakthrough can lead to new ovarian cancer treatment

The cause of a rare type of ovarian cancer that most often strikes girls and young women has been uncovered by an international research team led by the Translational Genomics Research Institute (TGen), according to a new study.

The findings revealed a "genetic superhighway" mutation in a gene found in the overwhelming majority of patients with small cell carcinoma of the ovary, hypercalcemic type, also known as SCCOHT. This type of cancer usually is not diagnosed until it is in its advanced stages. It does not respond to standard chemotherapy and 65 percent of patients die within two years. It has affected girls as young as 14 months, and women as old as 58 years - with a mean age of only 24 years old. In this study, the youngest patient was nine years."This is a thoroughly remarkable study. Many genetic anomalies can be like a one-lane road to cancer; difficult to negotiate. But these findings indicate a genetic superhighway that leads right to this highly aggressive disease," said Dr. Jeffrey Trent, President and Research Director of Tgen, and the study's senior author. "The correlation between mutations in SMARCA4 and the development of SCCOHT is simply unmistakable."

Dr. Trent added that while the breakthrough is for a relatively rare cancer, discovering the origins of this type of ovarian cancer could have implications for more common diseases.

Much of the work in this study was inspired by the memory of Taryn Ritchey, a 22-year-old TGen patient who in 2007 lost her battle with ovarian cancer.

"Taryn would be incredibly excited about this amazing new study, and she would be glad and thankful that other young women like her might now be helped because of TGen's ongoing research," said Taryn's mother Judy Jost of Cave Creek, Ariz. "My daughter never gave up, and neither has Tgen."The SMARCA4 gene - previously associated with lung, brain and pancreatic cancer - was the only recurrently mutated gene in the study's samples. The implications of this discovery, therefore, may be widespread.

"The findings in this study represent a landmark in the field. The work identifies SMARCA4 mutations as the culprit, and most future research on this disease will be based on this remarkable discovery," said Dr. Bert Vogelstein, pioneer in the field of cancer genomics. He did not participate in the study but is familiar with its findings.

"The past decade of research has taught us that cancer is a vastly complex disease.

Profound patient-to-patient variability has made treatment and diagnosis for many tumor types at times very difficult.

In this case, however, we have found a single genetic event driving SCCOHT in nearly every patient," said Dr.William Hendricks, a TGen Staff Scientist and another author of the study.




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