World Down Syndrome Day on March 12 :

Early treatment can minimise disabilities from Down Syndrome

By Carol Aloysius

Down syndrome is a disease that slows down a child’s development, mentally and physically, adversely affecting the overall health and quality of the victim’s for life. Although there is no cure for this debilitating disease, early detection and treatment in which physiotherapy plays an important role, can help improve inherent skills and mobility in these children.

The Sunday Observer spoke to Dr Gopi Kitnasamy a Chartered Physiotherapist to give us more insights into this little known disease, how it is caused and how it can be treated.

Excerpts…

Q. Down Syndrome is a relatively little known disease. Yet a significant number of children both in Sri Lanka and abroad are victims of this musculoskeletal disorder. Can you tell us more about this disease?

A. Down syndrome (DS) or Down's syndrome, also known as trisomy 21, is a chromosomal condition caused by the presence of all or part of a third copy of chromosome 21. Down syndrome is the most common chromosome abnormality in humans. This extra chromosome changes the normal development of the body and brain. It is typically associated with a delay in cognitive ability (mental retardation, or MR) and physical growth, and a particular set of facial characteristics.

Almost all of the conditions that affect the bones and joints of people with Down syndrome arise from the abnormal collagen found in Down syndrome. Collagen is the major protein that makes up ligaments, tendons, cartilage, bone and the support structure of the skin. One of the types of collagen (type VI) is encoded by a gene found on the 21st chromosome. The resulting effect in people with DS is increased laxity, or looseness of the ligaments that attach bone to bone and muscle to bone. The combination of this ligamentous laxity and low muscle tone contribute to orthopedic problems in people with Down syndrome.

Q. What are some of the typical characteristics of this disease?

A. Motor function in individuals with Down syndrome is characterised by hypotonia and hyper-flexibility, which results in an increased risk of joint dislocation and retarded motor skills. Hypotonia, decreased muscle tone, has a negative effect on the proprioceptive feedback from muscle and joint sensory structures and can have a detrimental effect on the efficiency of co - contractions and postural reactions. People with Down syndrome have more joint mobility than the average. The enlarged joint mobility may contribute to the lack of posture control.

Together with the failure of co – contraction, it will affect the joint stability.

Q. The disease has many musculoskeletal problems. What are the most common of them?

A. The most common musculoskeletal problems in Down Syndrome are Spine -Atlantoaxial instability, which is the looseness between the first and second vertebrae of the neck - scoliosis, which is the curvature of the spine to the side.

Hip - Five to eight percent of children with DS will develop abnormalities of the hip. The most common condition is dislocation of the hip, which is also called subluxation. In this condition, the head of the thigh bone (the femur) moves out of the socket formed by the pelvis (the acetabulum). This dislocation may or may not be associated with malformation of the acetabulum. The dislocation appears to be due to a combination of laxity of the connective tissue that normally keeps the hip together along with the low muscle tone found in DS.

Interestingly, hip subluxation in children with Down syndrome is hardly ever found at birth but instead is most common between the ages of three and 13 years. The most common sign is a limp, and pain may or may not be present.

Knee -Instability of the patella (kneecap) has been estimated to occur in close to 20 percent of people with DS. The majority of cases of instability present only as kneecaps that can be moved further to the outside than the normal kneecap (subluxation); however, some people can have their kneecaps completely move out of position (dislocation), and some may even have a hard time getting it back into the right position. Mild subluxation of the kneecap is not associated with pain, but dislocation may be painful. While people with instability of the patella are able to walk, there is often a decreased range of motion of the knee, with an accompanying change in gait.

The longer that nothing is done for the instability, the worse the condition will get over time.

Foot-Flat foot, also called pes planus, is seen in the vast majority of people with DS. In mild cases, the heel is in a neutral position.

In severe cases, the heel rotates so that the person is walking on the inside of the heel.

Metatarsus primus varus is also commonly seen in people with DS, and is the condition in which the front part of the foot behind the big toe bends inward.

Q. How can these disabilities be minimised?

A. Physiotherapy plays a significant part in helping such children. The appropriate goal of Physiotherapy for children with Down Syndrome (DS) is not to accelerate their rate of gross motor development as is commonly assumed. The goal is to improve the near normal gross motor development and minimise the development of abnormal compensatory movement and posture patterns that children with DS are prone to develop. Early Physiotherapy makes a decisive difference in the long-term functional outcome of the child with DS. The gross motor development is the first learning task that the child with DS encounters, it provides parents with the first opportunity to explore how their child learns. There is increasing evidence that the children with DS have a unique learning style. Understanding how children with Down syndrome learn is crucial for parents who wish to facilitate the development of gross motor skills as well as facilitating success in other areas of life including language, education and the development of social skills.

Q. As an experienced physiotherapist, what advice would you give physiotherapists and even parents to help in improving the functional outcomes of these children?

A. Firstly to teach them to walk properly, as many of them suffer from gait problems. Normal gait or walking is very important.

Ligamentous laxity, hypotonia and weakness in the legs lead to lower extremity posturing with hip abduction and external rotation, hyperextension of the knees and pronation and eversion of the feet. Children with DS typically learn to walk with their feet wide apart, their knees stiff and their feet turned out. They do so because hypotonia, ligamentous laxity and weakness make their legs less stable.

Locking their knees, widening their base and rotating their feet outward are all strategies to increase stability. The problem is, however, that this is an inefficient gait pattern for walking. The weight is being borne on the medial (inside) borders of the feet, and the feet are designed to have the weight borne on the outside borders. If this pattern is allowed to continue, problems will develop with both the knees and the feet. Walking will become painful, and endurance will be decreased. Physiotherapy should begin teaching the child with DS the proper standing posture (i.e., feet positioned under the hips and pointing straight ahead with a slight bend in the knees) when he or she is still very young. With appropriate Physiotherapy, gait problems can be minimised or avoided.

Q. What about spine posture?

A. Trunk position or spinal posture is another important consideration for Physiotherapy. Ligamentous laxity, hypotonia and decreased strength in the trunk encourage the development of kyphosis or Scoliosis, which is often first seen when the child is learning to sit. Children with DS typically learn to sit with a posterior pelvic tilt, trunk rounded and the head resting back on the shoulders.

They never learn to actively move their pelvis into a vertical (upright) position, and therefore, cannot hold their head and trunk over it. If this posture is allowed to persist, it will ultimately result in impaired breathing and a decreased ability to rotate the trunk. Physiotherapist will teach the child the proper sitting posture by providing support at the proper level even before the child is able to sit independently. First, the therapist provides upper trunk support, then middle trunk support, then support between the scapula and the waist, then support at the waist and finally pelvic support.

The support provided at each level keeps the spine and pelvis in proper alignment until the child develops the strength to hold that segment in alignment himself. Appropriate Physiotherapy can minimise problems with trunk posture.The other important goal is to facilitate the development of optimal motor movement patterns. Children often develop adaptations that help them achieve movement but can lead to musculoskeletal injuries over the long term. Physiotherapy helps prevent these non-ideal patterns from developing and prevent developing other musculoskeletal problems.

New hope for many of the world's fatal diseases

Researchers have discovered how oxidative stress can turn to the dark side a cellular protein that's usually benign, and make it become a powerful, unwanted accomplice in neuronal death.

This finding, reported in Proceedings of the National Academy of Sciences, could ultimately lead to new therapeutic approaches to many of the world's debilitating or fatal diseases.

The research explains how one form of oxidative stress called tyrosine nitration can lead to cell death. Through the common link of inflammation, this may relate to health problems ranging from heart disease to chronic pain, spinal injury, cancer aging, and amyotrophic lateral sclerosis, or Lou Gehrig's disease.

As part of the work, the scientists also identified a specific “chaperone” protein damaged by oxidants, which is getting activated in this spiral of cellular decline and death. This insight will provide a new approach to design therapeutic drugs.

The findings were published by scientists from the Linus Pauling Institute at Oregon State University; Maria Clara Franco and Alvaro Estevez, now at the University of Central Florida; and researchers from several other institutions.

They culminate a decade of work. “These are very exciting results and could begin a major shift in medicine,” said Joseph Beckman.

Beckman is an LPI principal investigator, distinguished professor of biochemistry, and director of the OSU Environmental Health Sciences Centre.

Scientists have known for decades about the general concept of oxidative damage to cells, resulting in neurodegeneration, inflammation and aging. But the latest findings prove that some molecules in a cell are thousands of times more sensitive to attack.

In this case, heat shock protein 90, or HSP90, helps monitor and chaperone as many as 200 necessary cell functions. But it can acquire a toxic function after nitration of a single tyrosine residue.

“It was difficult to believe that adding one nitro group to one protein will make it toxic enough to kill a motor neuron,” Beckman said. “But nitration of HSP90 was shown to activate a pro-inflammatory receptor called P2X7. This begins a dangerous spiral that eventually leads to the death of motor neurons.”

The very specificity of this attack, however, is part of what makes the new findings important. Drugs that could prevent or reduce oxidative attack on these most vulnerable sites in a cell might have value against a wide range of diseases.“Most people think of things like heart disease, cancer, aging, liver disease, even the damage from spinal injury as completely different medical issues,” Beckman said. “To the extent they can often be traced back to inflammatory processes that are caused by oxidative attack and cellular damage, they can be more similar than different. It could be possible to develop therapies with value against many seemingly different health problems.”

Beckman has spent much of his career studying the causes of amyotrophic lateral sclerosis, and this study suggested the processes outlined in this study might be relevant both to that disease and spinal cord injury.

Key to this research were new methods that allowed researchers to genetically engineer nitrotyrosine into HSP90.

This allowed scientists to pin down the exact areas of damage, which may be important in the identification of drugs that could affect this process, the researchers said.

- MNT

Patients benefit from quality of care measures

Public reporting of how physicians and hospitals perform in quality of care measures leads to improved care for patients.

A collaborative team of researchers led by Geoffrey C. Lamb, of Wisconsin, published their findings in the March 2013 edition of Health Affairs.

The researchers analysed 14 publicly reported quality of care measures from 2004 to 2009 for the Wisconsin Collaborative for Healthcare Quality, a voluntary consortium of physician groups, and found that physician groups in the collaborative improved their performance during the study period on many measures.

Diabetes-related measures showed the most significant improvement, with three out of the six measures showing double-digit percentage gains.

The other three measures showed improvement of two to nine percent. Blood pressure control improved by nine percent as well.

When asked about the public reporting and its effect on care, group practices indicated they were able to act on some, but not all, of the quality measures reported forcing them to prioritize their efforts.

“Our findings show that voluntary reporting of quality measures helps drive improvement for participants, which should lead to better healthcare for our patients,” said Dr. Lamb.

“Furthermore, these results suggest that large group practices are willing to engage in quality improvement efforts in response to that public reporting.”

- medicalxpress