Part II: Clinical Practice Guidelines for Adolescents and Young Adults With Down Syndrome: 12-21 Years

Susan Van Cleve, MSN, RN, CPNP; Sheila Cannon, MEd; William I. Cohen, MD

Disclosures

J Pediatr Health Care. 2006;20(3):198-205. 

In This Article

Health Conditions

DS is one of the most common genetic conditions associated with mental retardation, with the severity varying widely from mild to severe. Most persons with DS function in the range of mild to moderate impairment. Children with DS also have a variety of congenital malformations and medical conditions that present the health care provider with clinical challenges regarding health care prevention and maintenance.

Cardiac defects affect approximately 50% of children with DS, with atrioventricular defects the most common condition. During adolescence, there is an increased incidence of mitral valve prolapse (57%) and an approximate 10% risk of aortic regurgitation (Goldhaber, Brown, & Sutton, 1987). The AAP Committee on Genetics (2001) and Cohen (1999) recommend a cardiac evaluation and echocardiogram if a murmur or click is found on physical examination.

Persons with DS often have midfacial hypoplasia, large adenoids or tonsils, narrow hypopharynx and ear canals, small or misshapen teeth, and hypotonia that involves the smooth muscle of the upper respiratory tract. These anatomic differences may result in otitis media, conductive hearing loss due to chronic middle ear effusion, or impacted cerumen. Young people with DS also are at risk for obstructive sleep apnea because of anatomic, functional, and neurologic problems. In overweight individuals, the increased fat tissue in the pharyngeal area may further compromise the airway. Adolescents with obstructive sleep apnea may snore, have restless sleep, and may be difficult to arouse and then fatigued the following day (Pueschel & Sustrova, 1997). However, some persons with significant obstruction may not snore and may not be restless sleepers.

Ophthalmologic conditions associated with DS include strabismus (23%-44%), accommodative esotropia, myopia, hyperopia, and blepharitis. Keratoconus, a condition that involves anterior bulging of the cornea that may lead to blindness if not treated, occurs in 5% to 8% of patients with DS (Pueschel & Sustrova, 1997).

Adolescents with DS may have missing teeth, small or misshapen teeth, or severe crowding as a result of the small oral cavity and may require orthodontia (Cohen, 1999). Many teens preferentially breathe through their mouths because of their small nasal airway, which may contribute to a fissured tongue and cracked lips.

There is an increased incidence of thyroid disease in all individuals with DS, with hypothyroidism occurring most frequently (16% to 20%). Autoimmune conditions also are more common, so an evaluation in the adolescent with suspected hypothyroidism also should include thyroid antibodies to rule out Hashimoto's thyroiditis. Immune-mediated hyperthyroidism can be seen and may include symptoms of weight loss, gastrointestinal symptoms, and heat intolerance. Type II diabetes occurs more frequently, with a prevalence rate between 1.4% and 10.6% (Cohen, 1999).

Dermatologic conditions in adolescents with DS are common. Often, the teen's skin is rough and dry (xerosis). Hyperkeratosis (very thick skin) may present as skin lesions on the dorsum of the arms, anterior thighs, and the flexor aspects of the ankles and wrists but also may affect the palms and soles of the feet (Pueschel & Sustrova, 1997). Cheilitis, the presence of fissures and red, scaly skin on the corners of the lips and mouth, is more prevalent in teens with DS, more often in boys more than girls (Leshin, 2001; Pueschel & Sustrova). Frequent follicular skin eruptions occur, primarily in the perigenital area and upper thighs and buttocks. These follicular lesions may develop into abscesses (hydradenitis suppurativa), especially in significantly overweight teens (Pueschel & Sustrova). Alopecia areata and alopecia totalis are more prevalent in adolescents with DS, although the etiology is unclear (Leshin).

Common gastrointestinal disorders in adolescents with DS include constipation, gastroesophageal reflux, and celiac disease (gluten enteropathy). Celiac disease is reported to occur in 7% to 16% of persons with DS. In its classic form, it presents with diarrhea, bloating, and growth failure. However, one third of individuals do not manifest gastrointestinal signs and symptoms (North American Society for Pediatric Gastroenterology, Hepatology and Nutrition [NASPGHAN], 2005). In those cases, the only signs of this disorder may be a growth failure, iron deficiency (with or without associated anemia), or delayed puberty. Constipation also is found in atypical celiac disease. On occasion, the only manifestation of celiac disease may be irritability, recurrent abdominal pain, or other behavioral abnormalities. Cohen (1999) recommends that children with DS have celiac screening done at 2 to 3 years of age, but the AAP Committee on Genetics (2001) did not make a screening recommendation. Serologic screening utilizes human recombinant tissue transglutaminase, which is an IgA antibody. Total IgA must be tested at the same time to be certain that the individual is not IgA deficient, which could lead to a false negative tissue transglutaminase (NASPGHAN). Because persons with DS have a greater risk for developing this disorder, a single negative screen for celiac disease does not mean that celiac disease may not develop at a later time. Therefore, if there are clinical indicators of celiac disease in adolescents, screening should be repeated.

Many teens with DS have musculoskeletal disorders, including ligamentous laxity, which may contribute to the development of hip and knee problems. Pes planus is very common, and most adolescents will walk with a wide-based gait with bilateral internal pronation. The need for and the most appropriate screening tool to identify cervical spine and atlantoaxial abnormalities in children and adolescents with DS have been discussed and debated for many years (AAP Committee on Sports Medicine and Fitness, 1995; Cohen, 1998). Approximately 15% of patients have laxity of the atlantoaxial joint (defined as an atlanto-dens interval of greater than 4.5 mm on the lateral spine radiograph when taken in flexion, neutral, and extension), which is believed to have the potential to cause spinal compression and neurologic damage (Cohen, 1998). White, Ball, Prenger, Patterson, and Kirsk (1993) recommend that the determination of neural canal width is a better predictor of potential problems. The AAP Committee on Genetics (2001) and the Down Syndrome Medical Interest Group (Cohen, 1999) recommend one set of cervical spine radiographs to be taken between 3 to 5 years of age. Participants in Special Olympics are required to have periodic evaluation.

Adolescents with DS are not precluded from having neurodevelopmental disorders, including attention deficit/hyperactivity disorder and autism spectrum disorder (5% to 9%). They also are at risk for psychiatric disorders such as depression and obsessive-compulsive disorder. Because of the known increased incidence of Alzheimer's disease in persons with DS, many family members and health professionals assume that any behavior changes represent this devastating disorder. Alzheimer's disease occurs much less frequently than previously thought and has not been documented in adolescence. If mental or social decline or regression in a young person with DS is noted, other causes such as hypothyroidism, celiac disease, hearing loss, folate or B12 deficiencies, or depression should be fully evaluated (Pueschel & Sustrova, 1997).

Adolescents with DS have an average height that is two to four standard deviations below the mean of typical same-sex peers (Cronk, 1997). Their adolescent growth spurt occurs a little later, and the size of the growth spurt is less compared with teens without DS. Children with DS have a tendency to be overweight, which predisposes them to being overweight in adolescence. Significantly overweight adolescents with DS are at risk for adverse medical effects such as increased blood pressure, cardiac disorders, diabetes, and reduced life expectancy, as well as a decrease in activity level. Therefore, monitoring of weight throughout childhood and adolescence, as well as encouraging activity, exercise, and a well-balanced, low-fat diet, are important management strategies for individuals with DS.

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