What is Upper Crossed Syndrome?
Upper Crossed syndrome (UC) is a rare genetic disorder characterized by the presence of three pairs of chromosomes: 23, 26, and 30. UC affects approximately 1 in every 100,000 births. People with UC have two copies of chromosome 23 and one copy each of chromosome 26 and 30. There are no known treatments or cures for UC.
The most common form of UC is called trisomy 21. Trisomy 21 occurs when there are only 22 chromosomes instead of the usual 24.
The affected person will usually not show any obvious physical abnormalities until adulthood, but they may experience some problems such as heart defects, hearing loss, mental retardation, and other developmental delays.
People with trisomy 21 often develop certain diseases later in life. These include Down’s syndrome, spina bifida, and several forms of muscular dystrophy.
Other complications associated with trisomy 21 include heart failure, liver disease, kidney disease, osteoporosis, and various types of cancer.
What Are the Symptoms?
Symptoms vary from person to person depending on their genes and environment. There may be no physical signs in early childhood, but symptoms become more apparent during teenage years, and early adulthood.
If a person with trisomy 21 is affected medically, they may not survive past infancy. If they do survive, the most common symptoms include:
Vision and hearing loss
Brachydactyly (short fingers and toes)
Dwarfism or disproportionate dwarfism
Kidney and bladder problems
Muscle spasms and other developmental delays due to brain damage
How is it Diagnosed?
Because the symptoms are so varied and non-specific, a complete physical examination is required. A genetic test may also be necessary to confirm the diagnosis.
What Can Be Done?
Treatment options for trisomy 21 include a combination of surgery, medication, and therapy. The specific types of treatment will vary depending on the age of the patient and the types and severity of their symptoms.
Surgery might be recommended if your child has certain birth defects. Such procedures might include a procedure to repair a cleft lip, or the surgery to tie a tongue that is blocking the airway.
If your child has hearing loss, they may benefit from a hearing aid. Some children also benefit from cochlear implants.
These devices are implanted in or on the ear and help transmit sound signals to the brain.
A feeding tube may be necessary if your child is not able to eat or drink enough to get the nutrients they need. The tube is a plastic, flexible tube that is placed in the child’s stomach.
Specialized formulas may also be necessary if your child is not gaining weight or growing at a normal rate.
Oxygen therapy may be necessary if your child has breathing difficulties or other respiratory problems.
A coordinated care team will work with you to create a specialized plan for your child’s growth and development. This team may include a mixture of physicians, mental health professionals, and other medical professionals.
The emotional effects of having a child with special needs can be complicated. It is important to work through these feelings and find support networks either inside or outside of your family.
How Can I Help My Child?
Families who have a child with Down syndrome have shared the following recommendations:
Try to remain positive and focus on the abilities, not the limitations.
Down syndrome does not have to be a barrier to success. Children and adults can thrive with the right resources, support, and opportunities.
“Normalize” your child by exposing them to typical activities and experiences, such as swimming classes, dance lessons, music programs, and other social events.
Encourage your child’s independence as much as possible. Given the right tools and resources, many children with Down syndrome are able to live satisfying lives as adults.
Seek out local support groups and organizations that cater to families with children who have special needs.
Make sure your child gets enough calories.
Children with Down syndrome have a higher-than-average risk of being overweight or obese.
Obesity is a risk factor for health conditions like Type 2 diabetes, heart disease, and certain types of cancer.
Parents and other loved ones can help a child maintain a healthy weight by monitoring their diet and exercise.
Children with Down syndrome might have intellectual disabilities or language-based learning disabilities that require them to access special education programs in school.
These programs offer specialized instruction and support that allows the children to learn the same material as their typically-developing peers, albeit at a different pace.
Most school districts have counseling programs that offer students and their families support.
Mentorship and networking with other parents in similar situations can offer a lot of emotional support and practical advice.
Many adults with Down syndrome live satisfying lives and enjoy active social lives.
Down syndrome does not have to stand in the way of your child living a happy and fulfilled life.
Children with Down syndrome may have some limitations, but they also have a lot of potential. The key is providing them with the resources they need to thrive.
Where Can I Go for More Help?
If you’re concerned about your child’s development, speak with your pediatrician or contact the local early intervention center in your area.
The people at this center can assess your child’s cognitive and motor development and determine if your child is meeting key expectations for their age.
In some cases, early intervention can make a huge difference in a child’s development.
The Down Syndrome Association of Northern California offers a wealth of information and advice on their website.
You can also reach out to other parents in your situation through online forums and parent groups.
i was diagnosed with down syndrome when i was born. im 17 now and just graduated from high school!
i have alot of friends and play on the volley ball team at my school. im going to college next year to become a biomedical engineer.
Sources & references used in this article:
Upper crossed syndrome and its relationship to cervicogenic headache by MK Moore – Journal of manipulative and physiological therapeutics, 2004 – Elsevier
Effects of a ball-backrest chair on the muscles associated with upper crossed syndrome when working at a VDT by W Yoo, C Yi, M Kim – Work, 2007 – content.iospress.com
The effect of middle and lower trapezius strength exercises and levator scapulae and upper trapezius stretching exercises in upper crossed syndrome by WS Bae, HO Lee, JW Shin, KC Lee – Journal of physical therapy …, 2016 – jstage.jst.go.jp
Chiropractic management of a 46-year-old type 1 diabetic patient with upper crossed syndrome and adhesive capsulitis by J Valli – Journal of chiropractic medicine, 2004 – Elsevier