Down Syndrome Overview (cont.)
Benjamin Wedro, MD, FACEP, FAAEM
Dr. Ben Wedro practices emergency medicine at Gundersen Clinic, a regional trauma center in La Crosse, Wisconsin. His background includes undergraduate and medical studies at the University of Alberta, a Family Practice internship at Queen's University in Kingston, Ontario and residency training in Emergency Medicine at the University of Oklahoma Health Sciences Center.
Charles Patrick Davis, MD, PhD
Dr. Charles "Pat" Davis, MD, PhD, is a board certified Emergency Medicine doctor who currently practices as a consultant and staff member for hospitals. He has a PhD in Microbiology (UT at Austin), and the MD (Univ. Texas Medical Branch, Galveston). He is a Clinical Professor (retired) in the Division of Emergency Medicine, UT Health Science Center at San Antonio, and has been the Chief of Emergency Medicine at UT Medical Branch and at UTHSCSA with over 250 publications.
In this Article
- What is Down syndrome?
- What causes Down syndrome?
- What are the signs and symptoms of Down syndrome?
- How is Down syndrome diagnosed?
- What is the treatment for Down syndrome?
- What are the potential complications of Down syndrome?
- What is the prognosis for someone with Down syndrome?
- What is the life expectancy for someone with Down syndrome?
- Can Down syndrome be prevented?
What is the treatment for Down syndrome?
Providing support and treatment for a patient with Down syndrome is meant to improve their quality of life.
Infants with Down syndrome may experience developmental delays including time to sit, crawl, walk, and talk so parents need to know fhat developmental delays are common in children with Down syndrome. Using a team approach to care, physical therapists, occupational therapists, and speech therapists may help improve language, motor, and social skills to the maximum achievable by the individual person.
Medical conditions associated with Down syndrome, including those affecting the heart or the gastrointestinal system, may require evaluation and care, sometimes requiring surgery.
As the patient ages, the care and support needed will depend upon the intellectual ability and physical function achievable by the individual.
What are the potential complications of Down syndrome?
The extra genetic material can affect all organs in the body and complications may rise at birth or may present later in life.
Congential heart disease may affect up to 50% of patients. Most commonly found are endocardial cushion defects (also known as atrial septal defects) and ventricular septal defects. Both are “holes” in the walls that connect the upper (atrium) and lower (ventricle) chambers of the heart.
There can be many abnormalities of the gastrointestinal tract, including duodenal atresia (failure for the first part of the small intestine to fully develop), imperforate anus, and Hirschsprung's disease where the nerves to the anus fail to develop appropriately. Gastroesopaheal reflux is common and may lead to aspiration of stomach contents into the lungs leading to recurrent pneumonia. Celiac disease is common in Down syndrome.
Common eye problems include near sightedness, astigmatism, and strabismus (imbalanced eye muscles). Cataracts can develop in utero and lead to blindness. Glaucoma, which causes increased eye pressure, is also seen. Tear ducts may be blocked leading to recurrent eye infections.
Because of the abnormal facial anatomy, recurrent ear infections are common and can lead to deafness. As well, the large tongue and small mouth are potential risk factors for developing sleep apnea. Patients with Down syndrome are more prone to autoimmune diseases including hypothyroidism, diabetes, and celiac disease. Children are more prone to infections. Patients with Down syndrome have a higher risk to develop leukemia.
There is increased risk for cervical spine instability, especially at the atlanto-axial junction, the joint that connects the first and second vertebrae in the neck. This can potentially be catastrophic should there be subluxation or excessive movement that can damage the spinal cord. Scoliosis, hip dislocations, and knee laxity are other orthopedic issues that are prevalent.
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