Q: Doctor my daughter is one year old, she has Down Syndrome. What is this condition and how can a physical therapist help?
A: Down Syndrome (DS) is a genetic disorder caused by an abnormality in chromosomal structure. Chromosomes, present in every cell of the human body, are vital structures carrying genetic material that determines various characteristics, such as eye color and height. Typically, each cell contains 23 pairs of chromosomes, but individuals with Down Syndrome have an extra full or partial copy of chromosome 21 in some or all of their cells. This additional genetic material alters development and leads to the physical and intellectual traits associated with the condition.

Individuals with Down Syndrome often face health challenges from an early age. They generally have poorer overall health compared to their peers without DS and are more prone to a range of health issues and complications as they age. These issues can include a greater decline in health and mobility and increased susceptibility to secondary complications such as respiratory problems, congenital heart defects, and thyroid conditions. Consequently, individuals with DS and their families frequently need access to a broad range of health services, including physiotherapy, to help manage and mitigate these conditions.

Although DS is not classified as a medical illness but rather a common genetic variation, it is associated with various medical conditions. Children with Down Syndrome typically acquire essential motor skills necessary for daily living and personal independence, such as sitting, standing, and walking, but these milestones are often achieved later and with less precision than children without DS. This delay is largely due to balance issues, which can persist into adolescence and adulthood. Poor balance can significantly impact the development of other motor abilities and cognitive functions. Maintaining balance is crucial for children as it allows them to explore their environment, engage in social interactions, and achieve overall independence.

Throughout childhood, children with Down Syndrome generally do not experience the same rate of muscle growth or strength gains as their peers without DS. They typically exhibit 40-50% less muscle strength, affecting their ability to perform everyday activities such as climbing stairs, standing up from a seated position, and other tasks requiring physical effort. This decreased strength can lead to increased wear and tear on joints, a higher risk of falls, greater fatigue, delayed achievement of developmental milestones, and an increased risk of osteoporosis. Additionally, the weakness of stabilizing muscles can further compromise balance, making daily activities more challenging and increasing the likelihood of injury.

In addition to these physical challenges, individuals with Down Syndrome often face sensory issues and difficulties with emotional behaviors and mental health. Children with DS may struggle with communication skills, problem-solving abilities, attention deficits, and hyperactive behaviors. As they transition into adolescence, they may experience social withdrawal, reduced coping skills, depression, anxiety, obsessive-compulsive behaviors, and sleep disturbances. Adults with DS may continue to face these challenges and are also at an increased risk for developing dementia and Alzheimer’s disease later in life.

Supporting individuals with Down Syndrome requires a multidisciplinary approach that addresses their diverse and complex needs holistically. Physiotherapists play a vital role in enhancing physical abilities, strength, and balance. They provide tailored interventions, including sensory integration therapy, neurodevelopmental treatment, perceptual-motor therapy, and traditional strength and conditioning programs. By focusing on these areas, physiotherapists help individuals with DS improve their physical capabilities, significantly enhancing their quality of life.

Occupational therapists are also integral to the care team, working to improve daily living skills, fine motor control, and sensory processing. These therapists help individuals with DS develop the skills needed to perform everyday tasks more effectively, thereby increasing their independence. Speech and language therapists assist with developing effective communication skills and addressing challenges related to feeding and swallowing, which are common in individuals with DS.

Psychologists provide crucial support for the emotional and cognitive well-being of individuals with DS and their families. They help them cope with the various challenges they face, offering strategies for long-term success and emotional resilience. This support is essential for improving overall mental health and enhancing the ability to manage stress and other emotional issues.

Effective management of Down Syndrome through physiotherapy involves more than just direct interventions; it also includes educating individuals and their families about health promotion and long-term condition management. Interventions are customized based on the individual’s physical and intellectual needs, strengths, and limitations. Given that many treatments require ongoing maintenance, it is essential for family members to be involved in implementing home treatment plans. This involvement not only supports the individual's progress but also encourages self-management and fosters a sense of autonomy.

Strong communication and collaboration among the multidisciplinary team members and families are crucial for the success of these interventions. By working together, the team can make a significant and lasting impact on the lives of individuals with Down Syndrome, helping them achieve their full potential and lead more independent, fulfilling lives. Through a comprehensive and holistic approach, the multidisciplinary team can address the varied and unique needs of individuals with DS, providing them with the support and resources they need to thrive.