Down syndrome is a chromosomal condition characterized by the presence of an extra copy of genetic material on chromosome 21, either in whole (trisomy 21) or in part (such as due to translocations). This disease is diagnosed in two ways, during pregnancy or shortly after birth.
When held, a newborn with Down syndrome feels like a rag doll. Gross motor skills are more difficult to master due to low muscle tone, coupled with decreased strength and stamina.
Pro, aren't people with Down syndrome stronger? This belief has been established for years, although it is not really scientifically proven. People with this disease have low muscle tone, and this makes them sensitive to stimuli and immune to others.
We must also take into account their hypotonia, which is the condition that makes them more "soft". Ultimately, they have low muscle tone, although they are still powerful in many ways.
Effects on the musculoskeletal system
This disease not only affects people's mental development, but also has a great impact on the health of muscles and bones.
reduced muscle strength
Bone mass and bone geometry are influenced by muscle growth and development in children and adolescents. This process is further modified by hormonal signals. Motor function in people with Down syndrome is characterized by hypotonia e hyperflexibility, resulting in an increased risk of joint dislocation and delayed motor skills.
Hypotonia, decreased muscle tone, has a negative effect on proprioceptive feedback from sensory structures in muscles and joints and can have a detrimental effect on the efficiency of joint contractions and postural reactions.
People with Down syndrome have hyperflexibility, more than average joint mobility. Increased joint mobility can contribute to a lack of postural control. Along with failure to co-contract, it can have a negative impact on joint stability. This joint laxity is found in various parts of the body due to abnormal collagen found in Down syndrome.
Vitamin D deficiency
There is a damaging effect of vitamin D insufficiency on musculoskeletal health in children and adolescents during the critical period of bone mass accumulation. Vitamin D is not only essential for the normal growth of children, but also for the maintenance of bones. Vitamin D is also important for other functions such as muscle tone, immune defense, and even cancer.
This vitamin, absorbed orally through food or created under the influence of sunlight, is a precursor of the hormone 1,25-dihydroxyvitamin D. The latter stimulates calcium absorption in the small intestine and renal reabsorption and therefore ensures better bone health.
In people with Down syndrome, risk factors such as inadequate sun exposure, inadequate vitamin D intake, and the malabsorption or increased breakdown of vitamin D that accompanies anticonvulsant therapy contribute to failure. of vitamin D. Patients with Down syndrome often have osteoporosis and fractures as a result of this deficiency.
low bone mass
Bone mass accumulation during childhood is a key determinant of bone health in adulthood, and low peak skeletal mass is considered an important risk factor for osteoporosis in later life.
Multivariate analysis showed that Down syndrome was associated with a low bone mineral density of the spine. Lack of physical exercise, low muscle strength, insufficient sun exposure, low vitamin D levels, and long-term use of anticonvulsants are additional risk factors for low bone mineral density.
Some experts hypothesize that the extra copy of chromosome 21 might be responsible for the short stature, skeletal abnormalities, and premature aging seen in patients with Down syndrome.
walking problems
Children with Down syndrome normally learn to walk with their feet wide apart, knees stiff and feet turned out. They do this because hypotonia, ligament laxity, and weakness make their legs less stable.
Physiotherapy should begin by teaching the child with Down syndrome proper standing posture when they are still very young. So it will help to have your feet under your hips and pointing forward with a slight bend in your knees. With proper physical therapy, gait problems can be minimized or avoided.
posture and balance
Children with Down syndrome often learn to sit with a posterior pelvic tilt. rounded trunk and head resting on the shoulders. Physiotherapy should teach the child proper sitting posture by providing support at the appropriate level even before the child can sit independently. Proper physical therapy can minimize problems with trunk posture.
It is common for children with Down syndrome to be delayed in reaching common milestones such as independent sitting, standing, and walking. One of the factors contributing to the delay of these specific milestones is the poor balance. People with Down syndrome are often considered lazy, clumsy, uncoordinated, and have odd movement patterns due to balance problems. Many of these characteristics are maintained until they are adults.
Benefits of physiotherapy
Without physical therapy, a child with Down syndrome could end up having postural, gait, and orthopedic problems later in life due to misuse of their muscles. They are also at greater risk of joint problems if the muscles are not strengthened. So early intervention is important.
Physical therapy at an early age strengthens muscles, allowing children with Down syndrome to keep their bodies in proper alignment and prevent future health problems.
El exercise it can help people with Down syndrome to improve their muscle strength. But the exercises must be of the correct type, executed properly, and with sufficient repetition. In addition, the exercises must be fun, and the participation of siblings and friends is an essential part of improving participation levels. A person with Down syndrome may benefit from exercise programs that include other family members. However, they may have difficulty integrating exercise into their daily routine.