Down Syndrome (Trisomy 21)

Introduction

Welcome! This resource is intended for families of persons with Down syndrome (DS). When a person has DS, it is common for family members to seek out information to better understand the unique challenges they may face and to prepare for the future. There is a large amount of literature available regarding Down syndrome, which can be overwhelming and intimidating.

The purpose of this educational resource is to consolidate and clarify the information found in current literature. This will provide families of persons with DS a comprehensive, easily understood learning tool that they can feel confident in consulting. This wiki further intends to educate families about what to expect throughout the lifespan of an individual with DS, ease concerns, and highlight the role of physiotherapy in the care and management of Down syndrome. After reading this page, it is the hope of the authors that readers will feel encouraged and confident, allowing the family to better manage and cope at home. We hope that families will be better able to understand when and how to seek professional guidance, should they require support.

Why is this Wiki Important?

DS is the most commonly occurring chromosomal variance noted world-wide , with 1 in 700 births resulting in a child with DS. In the UK alone, there are over 41,000 people living with Down syndrome, and 750 new people born with DS each year . Birth rates are expected to stay the same, but the total population of persons with DS is expected to rise in the coming years. This is mainly due to medical advancements which have increased the life expectancy of people with DS from age 9 in 1929, to 60 years of age today . With this increase in number and age of this population, there will be larger demand on health services and increased challenges for families to overcome. Furthermore, persons with DS report having problems gaining access to health care with the main barrier being a lack of knowledge about available services.

This wiki is therefore a necessary educational tool for families to consult whenever they are looking for answers or reassurance. It will also identify what is to be expected over the lifespan of a person with DS and how families can best self-manage at home. Lastly, it will highlight potential issues and provide resources for family members should they require assistance. 

Learning Journey

It is the goal of the authors that after reading this page you will:

What is Down syndrome?  

As mentioned above, DS is a chromosomal alteration. Chromosomes are structures found in every cell of our body that contain genetic material. Typically, each cell has 23 pairs of chromosomes, with half coming from each parent . Down syndrome however, occurs when chromosome 21 has a full or partial extra copy in some, or all, of that individual’s cells. This triple copy is sometimes called trisomy 21 . The altered number of chromosomes leads to common physical features in the DS population, such as:

DS itself is not a medical condition and is simply a common variation in the human form. However, there are many medical conditions that people with DS frequently experience. These include:

• Learning difficulties  
• Poor cardiac health  
• Thyroid disfunction  
• Diabetes  
• Obesity
• Digestive problems
• Low bone density
• Hearing and Vision loss
• Dementia and Alzheimer’s disease
• Depression
• Leukaemia

STAY POSITIVE: Keep in mind that every person is unique. These listed conditions are common in DS but are only possibilities, not inevitabilities.

Though there are many similarities across the DS population, there is great variation in the syndrome. There are three types of DS, each with its own set of challenges and individual variation. The three types of DS are Trisomy 21, Translocation and Mosaicism. Further information on the differences between categories can be found here.

Whichever the type, persons with DS typically have poorer overall health at a young age and exhibit a greater loss of health, mobility, and increased secondary complications as they age when compared to their non-DS counterparts . Physiotherapists are commonly consulted to educate individuals and their families as well as provide input on health promotion and long-term condition management . As treatment often requires ongoing maintenance, physiotherapists have become increasingly reliant on family members to support and implement home treatment plans in an attempt to encourage self-management . Due to the variation in all people and across Down syndrome cases, no one physiotherapy intervention can be prescribed. Interventions are based on the individual’s physical and intellectual needs, as well as his or her personal strengths and limitations .  Some of the common issues that physiotherapists will address are:

• Delayed developmental milestones
• Balance issues
• Strength
• Mobility

Developmental Milestones

The ability to move is essential to human life and development. All children begin developing a wide range of movement skills, or motor skills, starting at birth. These motor skills are wide ranging and often broken down into the sub sections below:

Motor skills are key for physical function, but also impact cognitive development.

• Reaching and grasping allows a child to explore the characteristics of objects in his or her physical world
• Sitting promotes the use of arms and hands for playing
• Walking allows a child to explore the world more effectively than crawling
• Independent movement increases opportunities for social interaction which promotes language learning

These skills are vital for development and independent living. Health care professionals routinely monitor an individual’s progress of obtaining these motor skills and keep track of the age at which they were acquired. There are expected ages at which children are expected to achieve particular skills. These are known as developmental milestones.

Persons with DS will achieve all the same basic motor skills necessary for everyday living and personal independence, however it may be at a later age and with less refinement compared to those without DS. Children with DS will learn adequate skills for daily competence! Some adjusted milestones for DS are available below:

For more in depth developmental milestone charts, please see here, and if you would like further description of milestones or to track your child’s progress at home, please see checklist provided here. These modified milestone have been developed by researchers over many years. While they are generally accepted, there are some flaws in the research. Studies targeting developmental milestones tend to only examine a small number of people, making the information less representative of the entire DS population. Also researchers commonly compare people with DS to their non-DS counterparts of the same age. This is an inaccurate comparison, and it would be more accurate to compare children with DS to non-DS individuals of the same mental age. Despite these limitation, the above listed milestones are widely used and considered accurate.

Physiotherapy for Developmental Milestones

Physical characteristics such as low muscle tone, loose joints and decreased strength limit a child with DS’s ability to learn motor skills with the same speed and form as a child without DS. Persons with DS naturally overcome these challenges through perseverance and adapting the task to meet their capabilities. This is admirable but may result in life long physical compensation such as pain or inefficient walking patterns. Physiotherapists are here to help with that!

The goal of physiotherapy is not to ‘speed up’ the rate of development. It is simply to facilitate the development of optimal movement patterns. When considering motor skills in DS, the goal of a physiotherapist is to provide the building blocks to develop a solid physical foundation for movement and exercise in which your family member can build on for the rest of their life.

Physiotherapy sessions focusing on developmental milestones will be specifically tailored to your child’s current level of development. The physiotherapist will observe your child’s abilities and determine what skills should be learned next. As each person is different, physiotherapy will be taught in the way your child learns best. It is common for tasks to be broken into smaller parts and practiced using different methods based on individual learning styles and physical make up. A new idea developing in physiotherapy known as ‘tummy time’, discussed below, has also been shown to aid in timely achievement of motor skills. Lastly, physiotherapists will often get family members involved with treatment. Practice at home is essential for mastery, and your participation is key. The physiotherapist will teach you how to:

• Use your child’s interests to encourage new skill development
• Build on already mastered skills
• Focus on what your child is willing to learn
• Practice often
• Be patient 

REMEMBER: When thinking about developmental milestones for your child, the journey to get there may be different, but the destination is the same!

References

see adding references tutorial.

References for Videos

BBC THREE., 2016. Things people with down syndrome are tired of hearing [online video]. [viewed 16 March 2018]. Available from: https://www.youtube.com/watch?v=AAPmGW-GDHA