Teen years, no doubt, come with expected challenges. For teens with Down syndrome (DS), the challenges are exponentially greater. Although DS is associated with mental retardation, the vast majority of people with DS have only mild to moderate intellectual disability. Still, this can lead to a great deal of internal stress for the adolescent and anxiety and stress for the parents.
Many issues must be considered for the adolescent with DS. Annual surveillance changes as the child ages and the need for intervention do as well. For example, 50% of children with DS are born with congenital heart defect. During infancy, it is important to do echocardiograms to identify and follow specific lesions. Approximately 57% of adolescents with DS will develop mitral valve prolapse and 10% will develop aortic regurgitation.1 Therefore, close evaluation should be done, listening for new onset murmurs, clicks, and unexplained fatigue, and, if these are identified, an echocardiogram should be repeated.
Obesity rates in people with DS are far greater than in the general population. Mental impairment, decreased physical activity, and endocrine pathology all contribute to this issue. Body mass index evaluation, healthy eating, and participation in developmentally appropriate activity should be encouraged. Surveillance for rapid changes in weight, skin, and menstrual cycle warrant evaluation of thyroid level, which should be done annually, regardless.2 Persons with DS are at a 16%-20% risk of thyroid disease and a 1.4%-10% increased risk of type 2 diabetes.1 They are also at increased risk for autoimmune diseases.
Dysmorphic features such as midfacial hypoplasia, tonsillar hypertrophy, and narrow ear canals also lead to issues that develop in the adolescent years. Chronic otitis, conductive hearing loss because of chronic middle-ear effusion or impacted cerumen, and enlarged tonsils can result in obstructive sleep apnea. As individuals gain weight, these issues are further affected, and a sleep study may be required. Annual hearing screens are recommended.1
Accommodative esotropia, myopia, strabismus, and blepharitis are common ophthalmologic conditions associated with DS1, as is the rarer keratoconus, or anterior bulging of the cornea. Therefore, close observation for vision impairment is imperative.
Musculoskeletal disorders such as ligamentous laxity and atlantoaxial instability can also present with complications in the adolescent years. Pes planus is a very common finding that can further lead to hip and knee pain. Obesity also further adds to its occurrence (14%-67%).3 Recommendations currently require a cervical spine X-ray between the ages of 3-5 years, but, if the child is participating in Special Olympics, it should be repeated regularly.
Now, the most pressing and, likely, most overlooked issue is the issue of sexuality. We spend a great deal of time educating teens without DS about the risks of unprotected sex and exposures to STIs, but many assume that these issues do not affect teens with DS. Secondary sexual characteristics develop in the same manner and at the same age that they do in children without DS. Therefore, it is a safe assumption that sexual curiosity and arousal do as well. Given that there can be varying levels of mental impairment, the approach to sex education needs to be developmentally appropriate. Normalizing the feelings and having discussions on appropriate and inappropriate expression are important.
As with all teens, acceptance and inclusion are of utmost importance. Physical and learning disabilities set them apart despite shared sexual and emotional development. This can lead to anxiety, depression, and behavior issues. Understanding that these are real issues for the adolescent with DS is important when providing the appropriate resources and support.
Management of the menstrual cycle can add new challenges for both the adolescent and the parent and, thus, should be investigated during health maintenance visits. Amenorrhea can result from introduction of hormonal therapy and should be considered. Sexual abuse also is increased in this age group, so close supervision and awareness of this issue are important.
Assisting parents of children with DS through the teen years is imperative. Making them aware of local support groups and national organizations for children with disabilities will help them navigate these years. The American Academy of Pediatrics has guidelines for health maintenance for DS.2
Dr. Pearce is a pediatrician in Frankfort, Ill. She reported no relevant financial disclosures. Email her at email@example.com
2. Pediatrics. 2011. doi: 10.1542/peds.2011-1605.