Down syndrome is a genetic condition in which there are three 21st chromosomes instead of the usual two. Most people have 46 chromosomes per cell - originating from the 23 chromosomes in the mother's egg and 23 in the father's sperm. Not all people with Down syndrome have the same chromosomal arrangement, however.
Children with Down syndrome have an extra copy of chromosome 21. Therefore, this is also termed as Trisomy 21.
Some children have mosaic Down syndrome or mosaicism. In this type of Down syndrome, not all cells have the extra chromosome, which can result in the child being less severely affected.
Down syndrome can either be diagnosed when the child is in the womb (via amniocentasis) or after birth, it can usually be diagnosed based on distinctive physical features:
- Small head (microcephaly)
- Flat face
- Upward slanted eyes
- Single deep crease across the palm of the hand, and short fingers
- Wide space between the big toe and the second toe
- Hypotonia (low muscle tone)
- Mouth tends to stay open with tongue sticking out
The baby’s blood can be tested to confirm the trisomy 21.
Most children with Down syndrome will learn to walk, speak, think and solve problems in their own time. Most have some degree of intellectual disability.
These children grow more slowly, learn more slowly, and have more trouble with reasoning and judgment than other children. They often have a short attention span. They might be impatient, and quick to grow frustrated or angry.
Children with Down syndrome generally should not be compared in their development with other children.
Some associated features
Children with Down syndrome are more likely to have some medical impediments which should be taken care of. These may include:
- Congenital heart disease
- Leukaemia and other cancers
- Immune system problems
- Thyroid problems
- Gastrointestinal blockages
- Bone, muscle, nerve or joint problems
- Hearing problems
- Eye problems
- Seizures disorders
- Developmental delay
- Mental retardation
- Premature ageing
- Alzheimer’s disease
The average IQ of children with Down syndrome is around 50, compared to normal children with an IQ of 100. A small number have a severe to high degree of intellectual disability.
Intervention and therapies for the treatment of Down syndrome
There are many treatments for Down syndrome, but because it is a problem with the chromosomes, there is no medicinal treatment for this syndrome. However, there are treatments and therapies for physical, medical and cognitive problems associated with down syndrome.
The goal of the medical treatments in down syndrome are to manage the medical conditions associated with it, while early intervention and therapies help these children live long productive lives.
Romasis health care provides all the services of early intervention and the various therapies required for a child of Down syndrome. There are various health care professionals who will monitor and treat these children in connotation with highly qualified paediatricians.
Early intervention
Early intervention is a program of therapies, exercise and activities designed to specifically help children with Down syndrome or other disabilities. Early intervention is important because the earlier a child with Down’s syndrome receives the necessary help and support, the more independent and healthy they are likely to be later in life.
The goal of early intervention is to enhance the development of infants and toddlers and helping families understand and meet the needs of their children. The intervention therapy services for babies with Down syndrome include:
Physical therapy
Physical therapy focuses on motor development. Since most children with Down syndrome have hypotonia or low muscle tone. Our expert physiotherapists train and move their bodies in appropriate ways, and aims at improving their muscle tone. The therapists work on their muscles and movements and help them reach their motor milestones and thus prevent them from developing problems such as bad posture.
Speech therapy
Speech therapy is a very important treatment for the children with Down syndrome. Because these children have small mouths and slightly enlarged tongue, they can have articulation problems. That is, they have trouble speaking clearly. A speech therapist will works with the children to help them learn to communicate clearly.
Occupational therapy
Occupational therapist gives people practical support so that they can live more independently. The children with Down syndrome have problems with task that require high degree of physical coordination, such as feeding and dressing. So, an occupational therapist can help these children by breaking down tasks into smaller steps, then helping them to learn how to complete the task, step by step.
