Treatments for Down Syndrome

What is Down Syndrome?

According to the CDC, Down Syndrome is a condition in which a person has an extra chromosome. Chromosomes determine how a baby’s body forms and functions as it grows during pregnancy and after birth. Typically, a baby is born with 46 chromosomes. Babies with Down Syndrome have an extra copy of one of these chromosomes, chromosome 21. A medical term for having an extra copy of a chromosome is ‘trisomy.’ That is why Down Syndrome is also referred to as Trisomy 21. This extra copy changes how the baby’s body and brain develop, which can cause both mental and physical challenge for the baby.

Even though people with Down Syndrome might act and look similar, each person has different abilities. People with Down Syndrome usually have an IQ (a measure of intelligence) in the mildly-to-moderately low range and are slower to speak than other children.

Some common physical features of Down Syndrome are a flattened face, almond-shaped eyes, short neck, small ears, hands and feet, poor muscle tone etc.

Causes

As mentioned by the NDSS (National Down Syndrome Society), the cause of the extra full or partial chromosome is still unknown.

Maternal age is the only factor that has been linked to an increased chance of having a baby with Down Syndrome. However, due to higher birth rates in younger women, 51% of children with Down syndrome are born to women under 35 years of age.

The additional partial or full copy of the 21st chromosome which causes Down Syndrome can originate from either the father or the mother. Approximately 5% of the cases have been traced to the father.

There is also no definitive scientific research that indicates that Down Syndrome is caused by environmental factors or the parents’ activities before or during pregnancy.

Treatments

Down Syndrome is a lifelong condition. Although it can’t be cured, doctors know more about it now than ever. Services early in life will often help babies and children with Down Syndrome to improve their physical and intellectual abilities.

Most of these services focus on helping children with Down Syndrome develop to their full potential. These services include speech, occupational, and physical therapy, and they are typically offered through early intervention programs. Children with Down Syndrome may also need extra help or attention in school, although many children are included in regular classes.

Speech Therapy

The developmental differences of people with Down Syndrome can impact speech and language, for example:

• Difficulties in articulation due to low facial muscle tone.
• Harder to form sounds, because of a larger size of the tongue
• Hearing impairments from frequent ear infections due to the presence of fluid in the ears.
• Slower learning capabilities can delay speech milestones.

These differences lead to receptive language being stronger than expressive language. There are several preventative and proactive treatments that can be done early on to help bridge this gap.

Of course there is no hard-set protocol for the speech therapy of a child with Down Syndrome. Speech therapists need to alter these programs and accommodate the needs and skills of each child.

In general, the speech therapists aim to:

• Improve oral motor skills
• Develop eating and drinking skills
• Develop emerging language skills
• Improve and develop speech sounds
• Use alternative and augmentative communication e.g. sign language and visual aids to support language learning.
• Improve more complex speech disorders
• Increase vocabulary

The primary goal of speech and language therapy for children with Down Syndrome is to maximise the individuals communication to their highest potential across their home, educational and social environments.

Occupational Therapy

Occupational therapists play a key role within the multidisciplinary team for treatment of individuals with Down Syndrome. Occupational therapists are able to provide practical support and advice, enabling individuals with Down Syndrome to live more independent lives.Occupational therapists work with many different diagnoses and in different settings, such as in early intervention services or in the outpatient setting.

The type of interventions occupational therapists use will depend on the difficulties which are highlighted from an initial assessment. The intervention program will be tailored to suit the individual and their needs. Occupational therapy focus on the individual's ability to complete skills to enable independence. These skills include:

• Self-care
• Fine Motor
• Gross Motor
• Play and leisure
• Feeding
• Skills related to a school setting e.g. writing, cutting etc.
• Sensory development and regulation

Occupational therapists can help individuals with Down Syndrome by breaking down tasks into smaller steps, and then teaching them how to complete each step by step task. Occupational therapists can also provide appropriate aids and adaptations to assist with the completion of skills. This may include advice on positioning during certain tasks e.g. specially adapted chairs to use at school, due to the low muscle tone (hypotonia).

Individuals with low muscle tone may have a harder time processing proprioceptive input. Because of this decreased proprioceptive input, people with Down syndrome frequently need more input in order to grade the force of their movements.

Physical Therapy

Physical therapy is important during the early stages of the child’s development. Early physical therapy interventions for children with Down Syndrome can help to address any developmental problems and muscle weakness, whilst maximising function and their quality of life.

An initial assessment carried out by the physiotherapist will determine the type and severity of difficulties the individual is having with their motor skills and physical functioning. From the initial assessment the physiotherapist will implement an individualised treatment plan which will be tailored to the specific needs and abilities of the individuals.

Physical therapy can help individuals with Down Syndrome to:

• Develop gross motor skills such as sitting, crawling and standing
• Improve posture, balance, muscle strength
• Improve gait
• Improve joint range of movement
• Improve independence in functional activities
• Reduce the development of compensatory patterns
• Decrease the risk of joint problems as they age
• Increase endurance

It is important that physical therapy interventions for individuals with Down Syndrome also begin at an early age to help prevent secondary complications developing.

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Many conditions in people with Down syndrome are manageable with treatment and therapies. Medical care, support and education help them throughout their lives. Like anyone else, people with Down syndrome go to school, work, have meaningful relationships and can lead healthy and active lives.

From the Synopsis Team