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Adults (Over 18 Years)
History: Interval medical history. Ask about sleep apnea symptoms. Monitor for loss of independence in living skills, behavioral changes and/or mental health problems. Symptoms of dementia (decline in function, memory loss, ataxia, seizures and incontinence of urine and/or stool). This may also represent spinal cord compression from atlanto-axial subluxation.
Exam: General physical and neurological examination (with reference to atlanto-axial dislocation). Monitor for obesity by plotting height for weight. Cardiac exam: listen for evidence of mitral valve prolapse and aortic regurgitation: confirm suspicisions with echocardiogram. Sexually active women will need Pap smears every 1-3 years following the age of first intercourse. For women who are not sexually active, single-finger bimanual examination with finger-directed cytology exam. Screening pelvic ultrasound every 2-3 years for women who refuse or have inadequate follow-up bimanual examinations. This may require referral to an Adolescent Medicine practitioner or a gynecologist with experience with individuals with special needs. Otherwise, pelvic ultrasound may be considered in place of pelvic examinations. Breast exam yearly by physician.
Lab and consults: Annual thyroid screening (TSH and T4). Ophthalmologic evaluation every two years (looking especially for keratoconus and cataracts). Repeat cervical spine x-rays as needed for Special Olympic participation. Continue auditory testing every two years. There are two different suggestions for mammography: Dr. Heaton recommends yearly study after age 50; begin at age 40 for women with a first-degree relative with breast cancer. Dr. Chicoine suggests a mammogram every other year beginning at 40, and yearly beginning at 50. Continue twice-yearly dental visits. Mental health referral for individuals with emotional and behavioral changes.
Developmental: Continue speech and language therapy, as indicated. For individuals with poor expressive language skills, consider referral for augmentive communication device. Discuss plans for further programming/vocational opportunities at age 21 or when formal schooling ends. Be aware that accelerated aging may affect functional abilities of adults with DS, more so than Alzheimer disease.
Recommendations: Discuss plans for alternative long term living arrangements such as community living arrangements (CLA). SBE prophylaxis needed for individuals with cardiac disease. Continue dietary and exercise recommendations (see childhood, above). Update estate planning and custody arrangements. Encourage social and recreational programs with friends. Register for voting and selective service at age 18. Reinforce the importance of good self-care skills (grooming, dressing, and money handling skills). Bereavement counseling for individuals who have experienced the loss of an important person in their life, either via death or by other circumstances: sibling moves away after marriage, or goes off to college.
Neonatal - Birth to Two Months
Infancy - Two Months to Twelve Months
Childhood - One Year to Twelve Years
Adolescence - Twelve Years to Eighteen Years
Adults - Over Eighteen Years
Elaboration of Recommendations
Alternative and Controversial Therapies