• Trisomy 21
  • Mosaicism
  • DS

Down Syndrome

A typical human cell contains 23 pairs of chromosomes, with half inherited from each parent.  Down syndrome is a genetic condition that occurs when a child has a full or partial extra copy of chromosome 21. The additional genetic material alters the course of development and causes the characteristics associated with Down syndrome. According to the Centers for Disease Control and Prevention, approximately one in every 700 babies in the United States is born with Down syndrome.

Down syndrome is a genetic condition, but only one percent of cases have a hereditary component. The chromosomal abnormalities happen by chance. Both mothers and fathers can pass on the mutation. Genetic counseling can indicate an increased likelihood of offspring developing the condition, and a blood test done during the third month of pregnancy can indicate its presence. 

Down syndrome is usually identified at birth by certain physical traits including low muscle tone, a single deep crease across the palm of the hand, a slightly flattened facial profile, and an upward slant to the eyes. However, these features may be present in babies without Down syndrome; a chromosomal analysis called a karyotype is commonly done to confirm the diagnosis.

There are three types of Down syndrome: 

  • Trisomy 21 - Approximately 95% of cases of Down syndrome are Trisomy 21. This variant develops when there is an addition chromosome 21 in every cell in the body. 
  • Translocation - This occurs when a section of chromosome 21 breaks off and attaches itself to another chromosome - typically, chromosome 14. Approximately 4% of Down syndrome cases are due to translocation.
  • Mosaic - This rare (less than 1% of cases) type of Down syndrome occurs when cells have a combination of numbers of chromosomes, some with the usual 46 and others with 47.  

All children with Down syndrome possess some degree of cognitive delay, ranging from mild to severe. Language delay and memory impairment are the most common. Comorbidities including hearing loss, heart defects, epilepsy, and blood disorders are also common in children with Down syndrome.  

A variety of therapies can be used in early childhood intervention programs to promote development, independence, and productivity for an individual with Down Syndrome.

Conventional Treatment

Down syndrome treatment plans must be highly customized for each individual child. Treatments are based on the child’s physical and intellectual needs as well as his or her strengths and limitations. A child with Down syndrome will likely need a team of multidisciplinary health professionals: physicians, special educators, speech therapists, occupational therapists, physical therapists, and others. 

Many children with Down syndrome are born with heart defects that may require surgery, or digestive problems that require a lifelong special diet. They are also more likely to have epilepsy, hearing loss, celiac disease, and hypothyroidism. A team of physicians, likely including a cardiologist, will determine the proper course of evaluation and treatment for the child’s physical health needs.

One of the best resources for caregivers of children with Down syndrome is DS-Connect: The Down Syndrome Registry. This online resource was created by the National Institutes of Health “to foster communication and idea-sharing among NIH, individuals with Down syndrome and their families, national organizations interested in Down syndrome, and pediatric and other groups.”

A variety of therapies, discussed in more detail below, can be used in early childhood intervention programs to promote development, independence, and productivity. 

Support

At The Brain Possible, our goal is to empower you to take a holistic approach to your child’s treatment. Below are ways in which you can support several aspects of your child’s recovery; before embarking on any, be sure to discuss them with your trusted health care providers.

Physical

Children with Down syndrome may struggle with hypotonia (low muscle tone), loose ligaments, and reduced strength, all of which impact the development of gross motor skills. Physical therapy is a foundation of most treatment plans. While physical therapy will likely not accelerate physical development, it will help children develop efficient movement patterns to aid in posture, balance, gait, and foot alignment. Occupational therapy is also a cornerstone of treatment. Therapists can help children and caregivers find ways to adjust tasks such as dressing and eating to meet the child’s capabilities, as well as motivate the child to move beyond their comfort zone. 

Therapies such as craniosacral, which regulates the flow of cerebrospinal fluid (CSF), myofascial release, which helps release tissue trauma; and scalp acupuncture, which encourages the flow of energy through meridians in the head and body, have helped children with Down syndrome experience greater ease, coordination, and relaxation. The Anat Baniel Method is a gentle movement therapy that improves physical and cognitive function. Chiropractic treatment, which uses spinal manipulation to increase joint mobility and the flow of cerebrospinal fluid (CSF), has helped children improve flexibility and experience pain relief. 

Emotional/Social

Children with Down syndrome may be prone to depression, anxiety, obsessive-compulsive disorders, emotional developmental delay, and social isolation. They are often extremely sensitive to emotional stress in their environments and may experience developmental regression following difficult events, such as the loss of a loved one. A therapist who specializes in children with Down syndrome can help children and caregivers address mental health challenges and learn effective emotional coping strategies. 

Children with Down syndrome have found emotional comfort in canine therapy and equine-assisted or hippotherapy, which can help them regulate their emotions and experience trust and closeness as they form bonds with animals and their therapeutic helpers.

Since the challenges of Down syndrome can exact a toll on caregivers and siblings, family counseling and support groups for caregivers of children with Down syndrome can be of great value. 

Sensory

Most children with Down syndrome will be in need of speech-language therapy to improve language skills. Some therapists may suggest a child learn an alternate means of communication, such as sign language, while improving verbalization skills. Hearing loss can also occur due to fluid retention near the eardrum.  Hearing aids and auditory processing therapies can help integrate cognitive and sensory function with hearing. Sensory integration therapies, such as the Wilbarger Protocol and Floortime, may include games, puzzles, and personal care or household tasks that help children regulate their states of sensory arousal. They also aid in building neuronal pathways for better integration of sensory input from multiple sources.

Hydrotherapy, which uses water as a setting for occupational therapy and/or as a means of transferring heat or cold to the body, can also help with relaxation and neurological integration of sensory experiences for children with Down syndrome. 

Intellectual

Thanks to the Individuals with Disabilities Act, children with Down syndrome are eligible for learning support services and therapies from birth to the end of high school or age 21, whichever comes first. Your child’s school system can help create an Individualized Education Plan (IEP), which will coordinate a team of specialists to meet their educational and developmental needs. 

Children with Down syndrome can benefit greatly from assistive learning devices such as large-letter keyboards and specialized touchscreen tablets, text voice readers, and smartpens.

Brain Gym is a series of physical exercises to improve cognitive function. The exercises, which can be done at home, are thought to help children meet neurological milestones they may have skipped in their development.

Nutritional/Environmental

Children with Down syndrome are at risk for a variety of gastrointestinal conditions such as GERD, constipation, and Celiac disease. Due to low muscle tone, they may also struggle with weight gain. It may be beneficial to work with a nutritionist to learn how to maximize your child’s diet. The Ketogenic Diet is a high-fat diet that changes the brain metabolism and has been reported to help control seizures, which impact some children with Down syndrome.  Parents have also reported success with the Nemechek Protocol. The Nemechek Protocol inhibits bacterial overgrowth in the gut, which has been linked to reduction of inflammation in the brain.

Physiological

While Down syndrome itself isn’t treated with medications, secondary conditions such as heart conditions, hypothyroidism and pain management may be. Due to the potential of  multiple secondary conditions in a single patient, health care providers must take caution not to prescribe medications that interact poorly. Caregivers are advised to be proactive medication managers and to ask questions about all possible side effects and contraindications. 

Cannabis therapy is one of the most promising new treatments to combat pain and other symptoms of epilepsy, which afflicts some children with Down syndrome. CBD oil has been shown to reduce seizures, and many states permit the use of medical marijuana to reduce spasticity. In laser reflex integration, cold lasers increase the amount of adenosine triphosphate (ATP) in cells, thereby stimulating the mitochondria and encouraging nervous system repair. Laser light therapy can improve muscle tone in children with Down syndrome and promising studies have shown that stem cell therapy can improve muscle tone and cognitive and organ function.