Today, March 21 health officials will shine their spotlight on a subject that has up to now been sidelined on account of the fact that the number of those afflicted by Down’s Syndrome reportedly the commonest chromosome abnormality in humans, are relatively low. The Sunday Observer spoke to Head of Rehabilitation Services, MJF Charitable Foundation, Dr Gopi Kitnasamy who has hands on experience in dealing with Down’s Syndrome patients, especially, children who, he says, can suffer from many mental and physical disabilities, including speech disorders, gait and other associated problems if they are not treated in their early growing stage.
Excerpts
Q. On March 21 the world’s leading experts on Down Syndrome will come together to shine their torch on a subject that still continues to baffle doctors despite many advances in the field. As many still don’t understand what Down’s Syndrome (DS) is tell us what exactly is Down’s syndrome?
A: Down Syndrome 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 and physical growth and a set of facial characteristics.
Q. How is Down syndrome diagnosed?
A: There are two categories of tests for Down syndrome that can be performed before a baby is born: screening tests and diagnostic tests. Prenatal screens estimate the chance of the fetus having Down syndrome. These tests do not tell you for sure whether your fetus has Down syndrome; they only provide a probability.
Diagnostic tests, on the other hand, can provide a definitive diagnosis with almost 100 percent accuracy. Down syndrome is usually identified at birth by the presence of certain physical traits, low muscle tone, a single deep crease across the palm of the hand, a slightly flattened facial profile and an upward slant to the eyes. Because these features may be present in babies without Down syndrome, a chromosomal analysis is done to confirm the diagnosis.
Q. How does DS affect the bones and joints?
A: Almost all of the conditions that affect the bones and joints of people with Down syndrome arise from the abnormal collagen found in DS. 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 21 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.
Q. What are the problems associated with Down Syndrome?
A: The combination of this ligamentous laxity and low muscle tone contribute to orthopaedic problems in people with DS. Motor function in people with DS 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 DS 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. You referred to several musculoskeletal problems that persons with DS are likely to suffer from. What are the most common and which part of the body is most affected?
A: The most common musculoskeletal problems in Down syndrome are: Atlantoaxial instability, i.e. looseness between the first and second vertebrae of the neck, Scoliosis, which is the curvature of the spine to the side. Five to eight percent of children with DS will develop abnormalities of the hip. Hip 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. Instability of the kneecap has been estimated to occur in close to 20 percent of people with DS. Flat foot is seen in the vast majority of them. 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.
Q. Do these problems affect their walking?
A: 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.
Q. Why?
A. 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, however, is 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 the knees and the feet. Walking will become painful, and endurance will be decreased.
Q. Since your specialty is Physiotherapy, tell us how Physiotherapy helps these children?
A: The goal of Physiotherapy for children with 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 interventions with the multidisciplinary team approach make 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 and provides parents with the first opportunity to explore how their child learns. There is increasing evidence that children with DS have a unique learning style.
Facilitating the development of optimal motor movement patterns and maintaining correct and good postures are an important part of the Physiotherapy. 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. Physiotherapy should begin teaching the child with DS the proper standing posture when he or she is still very young. With appropriate Physiotherapy interventions, gait problems can be minimised or avoided.
Q. How else can Physiotherapy help them?
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.
Q. On rehabilitation, a question uppermost in most parents’ and caregivers’ mind is what their specific role is in the rehabilitation process of, especially, young children with DS?
A: A family-centered or focused approach is considered the best practice in Paediatric rehabilitation. Understanding how children with DS 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. What is early intervention and why is it important?
A: The first years of life are a critical time in a child’s development. All young children go through the most rapid and developmentally significant changes during this time. Children with Down syndrome typically face delays in certain areas of development, so early intervention is highly recommended. It should begin any time after birth, but the sooner it starts, the better. Early intervention is a systematic program of therapy, exercises and activities designed to address developmental delays that may be experienced by children with DS or other developmental disabilities. It is offered by the multidisciplinary team who teaches parents how to interact with their infant or toddler, how to meet their child’s specific needs and how to enhance development.
Q. I understand that the MJF Charitable Foundation of which you are the Head of Rehabilitation Services runs a program for DS children and their families. Tell us about it.
A: At our centres for children with developmental disorders, we provide an early intervention program which is important to enhance the development of infants and toddlers with DS and to help families understand and meet the needs of their children, therapeutic and educational services and vocational training programs. These services are provided by a qualified and experienced multidisciplinary team.
Q. A Dis-Ability App was launched by the MJF foundation a few months ago during the Covid-19 lockdown. How have disabled children and their families benefited from this new App up to now?
A. During the Covid-19 lockdown, we introduced tele-therapy and education services for the students at our centres. After seeing the benefits of it, we decided to expand the service to the children in all districts of Sri Lanka. The Disability Screening app aims to share knowledge, therapies and services for people with disability, especially, children in regions where access to transport, regular therapy and other services are limited. The app includes guided disability and development screening, referral services to connect them with Paediatricians and other experts, early identification and intervention and tele-therapeutic, educational and rehabilitation assistance, allowing caregivers to monitor progress with guidance from MJF Charitable Foundation’s multidisciplinary team. The app is available for android and I-phones and is free to download on the Google Play and App Stores.
Q. Any contact number?
A. The families can connect with us via our helpline 0777 116 116 for useful information and guidance to support their children.
Q. What is your message to the parents?
A. Accept the truth, learn and understand more about your child’s condition, focus on early interventions, be part of the intervention program, foster your child’s intellectual development. Education is very important, encourage your child to be independent, be patient, positive and hopeful.
Talk to other parents of children with DS for encouragement and reassurance. Often, other parents can help you look beyond your baby’s diagnosis and delight in the joys of parenthood. They have been through what you are going through and can be an invaluable source of support.