Challenges of Sensory Integration in Down Syndrome: Recognition and Support

Down syndrome is a genetic disorder caused by an extra copy of all or part of chromosome 21. This additional genetic material leads to distinct physical characteristics, intellectual disabilities, and an increased susceptibility to specific health issues. However, with appropriate support and understanding from their environment, individuals with Down syndrome can lead fulfilling and high-quality lives.

Genetic Causes and Diagnosis

The primary cause of Down syndrome is the presence of an extra copy of chromosome 21 in every cell of the body, which affects an individual's development. There are three main types of this syndrome:

1. Trisomy 21 – The most common form, occurring in approximately 95% of cases, where each cell in the body contains three instead of two copies of chromosome 21.

2. Translocation Down syndrome – Found in about 3-4% of cases, this occurs when extra genetic material from chromosome 21 attaches to another chromosome.

3. Mosaicism – A rarer form (about 1% of cases) in which only some cells have an extra copy of chromosome 21, while others remain normal.

External factors do not influence the occurrence of Down syndrome, nor can its development be prevented. It is well established that maternal age increases the likelihood of having a child with this syndrome. Women over the age of 35 have a 1 in 400 chance of giving birth to a child with Down syndrome, while the risk increases to 1 in 110 at age 40 and 1 in 35 at age 45. However, it is essential to note that approximately 80% of children with Down syndrome are born to mothers younger than 35. This syndrome can appear in any ethnic or socioeconomic group, regardless of parental health, financial status, or lifestyle (Brčić, 2022).

Down syndrome can be diagnosed during pregnancy through prenatal tests such as the non-invasive prenatal test (NIPT) and amniocentesis or after birth based on characteristic physical features and genetic analysis (Brčić, 2022).

Main Characteristics

Individuals with Down syndrome have distinct physical features that can be observed from birth. One of the key characteristics is reduced muscle tone, known as hypotonia, which can affect motor skills. They often have a short, broad neck, sometimes with excess skin and fatty tissue. Their eyes are slanted, and their face is round with a flat profile. The ears are typically smaller and irregularly shaped, while the hands and feet are short and broad, often featuring a single transverse palmar crease. A noticeable gap between the big and second toes is also common. Additionally, the head is often smaller, and the chest may be atypical (Vuković et al., 2007).

Facial features include a flattened nasal bridge, small ears set lower than usual, a small mouth, and an enormous tongue, making speech and swallowing more difficult. The hands are broad, with short fingers, and the palms may have a characteristic transverse crease. The eyes often display unique features such as Brushfield spots—white specks along the iris margin. Individuals with Down syndrome frequently experience vision-related issues, including nearsightedness, farsightedness, and strabismus (Golubić, 2015).

Their skin may be more sensitive, soft, and thin in childhood but prone to dryness and thickening with age. Hair is often thin and straight and may grow low on the nape, with some areas of hair thinning. Facial expressions can appear less defined, and due to the structure of the forehead and eyelids, their crying expression may resemble that of an older person (Zergollern-Čupak, 1998).

The nose is typically small and flat, with underdeveloped nasal bones and nostrils that tilt upward. Due to reduced muscle tone in the oral cavity, open mouth posture and tongue protrusion are common, which can contribute to speech and swallowing difficulties. Teeth erupt later than usual, may be irregularly shaped, or may be missing altogether (Mirt, 2016).

Ears are frequently smaller, set lower on the head, and underdeveloped, with their shape varying significantly among individuals with Down syndrome. The neck is short and broad, often with excess skin, especially in younger children. Weak abdominal muscles can lead to a protruding belly and an increased likelihood of umbilical hernia. The hands and feet are broad, with short fingers, and the fifth finger often curves inward. The feet are also wide, with a characteristic gap between the first and second toes.

Growth in individuals with Down syndrome is slower compared to the general population, often resulting in below-average height and weight. Factors influencing physical development include genetics, nutrition, overall health, and environmental conditions (Mirt, 2016).

Health Challenges

Individuals with Down syndrome face an increased risk of various health issues that can impact their overall development and quality of life. One of the most common health concerns is congenital heart defects, affecting between 30% and 60% of children with this syndrome. Some heart defects are mild and do not require treatment, while others are more severe and may necessitate surgical intervention. Symptoms of heart defects include heart murmurs, difficulty breathing, pale skin, and fatigue (Mirt, 2016).

In addition to heart problems, individuals with Down syndrome frequently experience thyroid disorders, with hypothyroidism and hyperthyroidism being the most common. Symptoms may include fatigue, reduced growth, changes in appetite, and sleep disturbances.

Immune system deficiencies are also prevalent in individuals with Down syndrome, making them more susceptible to respiratory and gastrointestinal infections, autoimmune diseases, and even certain types of leukemia. Due to their heightened sensitivity to infections, their nutrition, hygiene, and vaccination should be given special attention. Their weakened immune response also increases the risk of infectious diseases and premature aging.

Vision and hearing impairments are also common. The most frequent vision-related issues include nearsightedness, farsightedness, strabismus, and cataracts while hearing problems often involve conductive hearing loss and inner ear impairments.

Breathing difficulties, including sleep apnea, arise from anatomically narrower airways and reduced muscle tone. These issues often result in snoring, labored breathing, and oxygen deprivation during sleep, which can affect overall health and energy levels.

Gastrointestinal issues may also include constipation, gastroesophageal reflux, and congenital anomalies of the digestive system, such as esophageal or duodenal atresia, which often require surgical correction. A balanced diet and regular physical activity can help regulate digestive function.

Beyond physical health challenges, Down syndrome also affects the nervous system, leading to difficulties in learning, speech, and motor development. Children with this syndrome often have reduced muscle tone (hypotonia), contributing to delayed motor skills and movement clumsiness. About 50% of children with Down syndrome experience difficulties with walking, and their movements are often less coordinated and slower.

Among adults with Down syndrome, there is an increased risk of developing Alzheimer’s disease, and they are also more prone to obesity compared to the general population. Regular medical check-ups, tailored dietary plans, and physical activity are essential for long-term health and well-being.

It is crucial to adopt an individualized approach to monitoring and treating each person with Down syndrome to preserve their quality of life and minimize the impact of health issues. Regular medical screenings, early intervention, and multidisciplinary support can significantly improve their health and independence.

Sensory Integration and Challenges

Individuals with Down syndrome often experience difficulties with sensory integration, meaning their brains may process sensory stimuli from the environment differently. These challenges can manifest in various ways, including increased or decreased sensitivity to touch, sound, or light. Additionally, they may struggle with balance and coordination, affecting their ability to perform everyday activities.

One common challenge is sensitivity to certain food textures, making eating more difficult and leading to selective food choices. Some children seek enhanced sensory input through activities such as chewing, spinning, putting objects in their mouths, or excessively stuffing food, while others may be highly sensitive to sensory stimuli and avoid physical contact, loud noises, or specific visual inputs.

Difficulties in sensory processing can also impact auditory and visual perception. Children with Down syndrome may take longer to register and recognize sounds, and they may struggle with focusing on visual information. Common visual impairments include strabismus, nearsightedness, or farsightedness, making it essential to encourage visual attention, eye contact, and object tracking early on.

Children with sensory integration difficulties may display a wide range of responses to stimuli—some may be constantly active and require continuous stimulation, while others may appear fatigued, slow to respond, or clumsy. They may also have difficulty adjusting to new situations, show impulsivity or inattention, or withdraw from interactions (Mirt, 2016).

Sensory integration specialists can help develop individualized programs tailored to each child's needs, assisting them in regulating their responses to stimuli and improving overall sensory functioning. Through targeted therapeutic interventions, it is possible to enhance coordination, adaptability to different situations, and overall ease in daily activities for children with Down syndrome.

This is precisely why SENcastle, with its ability to adapt to each user's individual needs, can be an ideal solution for individuals with Down syndrome. By using different sensory cushions, they can expand their sensory experiences, receive the necessary sensory input, and gradually increase their tolerance to specific stimuli. Furthermore, by incorporating various sensory cards, they can be better prepared for different life environments, broaden their knowledge, and develop strategies for relaxation and cooperation with others. Here is a review about SENcastle from one person with Down sindrome who had a chance to try it.

Social Inclusion and Education

The inclusion of individuals with Down syndrome in educational and social activities is essential for their development and achieving greater independence. They can develop social and academic skills through early intervention programs, adapted educational methods, and systematic support.

People with Down syndrome are active members of society. They participate in various activities and attend educational institutions; some are employed. They live with their families and friends or, with appropriate support, entirely independently.

Today, opportunities for individuals with Down syndrome are significantly greater than in the past, thanks to a shift in approach and the removal of previous limitations. These positive changes result from the combined efforts of parents, professionals, and society, who continuously work towards improving their rights and quality of life.

World Down Syndrome Day

World Down Syndrome Day is observed annually on March 21st, a date symbolizing the presence of three copies of chromosome 21, which is the genetic basis of this syndrome. This day is dedicated to raising awareness about the rights, inclusion, and well-being of individuals with Down syndrome worldwide.

Many people wear colorful or mismatched socks on this day to show support and promote the acceptance of diversity, symbolizing each individual's uniqueness.

References:

1. Brčić, M (2022): Down sindrom kod djece predškolske dobi. Završni rad. University of Zagreb, Faculty of Teacher Education

2. Golubić, I. (2015): Downow sindrom. Završni rad. University North, Varaždin.

3. Mirt. V. (2016): Down sindrom. Završni rad. University of Zagreb, Faculty of Teacher Education

4. Vuković, D., Tomić, Vrbić, I., Pucko, S., Marciuš A. (2007): Down sindrom, vodič za roditelje i stručnjake, Zagreb.

Zergollern – Čupak, Lj. (1998): Downov sindrom – iskustva i spoznaje. Zagreb: Centar za rehabilitaciju „Zagreb“.