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Adult Down Syndrome Clinic of the Southeast

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  • 1. Adult Down Syndrome Clinic of the Southeast Edward J. Lose Department of Genetics Department of Genetics
  • 2. Adult Down Syndrome Clinic (ADSC) of the Southeast
    • Define Down Syndrome
    • Discuss age specific complications
    • Define the problem: Why start an adult clinic?
    • Steps taken to initiate and sustain the clinic
    • Future research
    Department of Genetics
  • 3. Down Syndrome
  • 4. Down Syndrome
    • The improvement which training effects in them is greatly in excess of what would be predicated if one did know the characteristics of the type. The life expectancy, however, is far below the average, and the tendency is to the tuberculosis which I believe to be the hereditary origin of the degeneracy.
  • 5. Down Syndrome
    • Apart from the practical bearing of this attempt at the ethnic classification, considerable philosophical interests attaches to it. The tendency in the present day is to reject the opinion that the various races are merely varieties of the human family having, a common origin, and to insist that climatic or other influences are sufficient to account for the different types of man. Here, however, we have examples of retrogression, or at all events, of departure from one type and the assumption of the characteristics of another.
  • 6. Down Syndrome
    • They have considerable power of imitation, even bordering on being mimics. They are humorous, and a lively sense of the ridiculous often colour their mimicry. This faculty of imitation may be cultivated to a very great extent, and a practical direction given to the results obtained. They are usually able to speak; the speech is thick and indistinct, but may be improved very greatly by a well-directed scheme of tongue gymnastics. The coordinating faculty is abnormal, but not so defective that it cannot be greatly strengthened. By systematic training, considerable manipulative power may be obtained.
  • 7. Down Syndrome
    • Down's essay originally appeared in England in 1866. It is generally credited as the earliest clinical description of what he called "mongoloid idiocy," as a condition separate and distinct from cretinism. The version reprinted here is actually itself a reprint of that original essay,which appeared in The Journal of Mental Science in 1867, and was reprinted in Mental Retardation in February 1995. Down elaborated his views at much greater length in a later book entitled Mental Affections of Children and Youth (1887). The racially based terms 'mongoloid' and 'mongolism' that Down coined continued to be widely used well into the 1980s.
  • 8. Down Syndrome
    • 1930s Waardenburg and Bleyer predict that Down Syndrome is caused by a change in chromosome number.
    • 1933 Penrose and others note relationship with advanced maternal age.
    • 1954 Mittwoch saw 24 chromosomes on a testicular biopsy specimen.
    • 1959 Lejeune and Jacobs independently describe Trisomy 21.
  • 9. Down Syndrome
  • 10. Down Syndrome
  • 11. Down Syndrome
    • Down syndrome
      • Most common malformation pattern ~1 in 800
      • Due to extra chromosome 21 material
        • ‘ critical’ region 21q22.3 5 Mb
        • between D21S58 and D21S42.
      • Non-disjunction trisomy 94%
        • 85% due to maternal non-disjunction in Meiosis I
      • Trisomy with some mosaicism: 2.4%
      • Translocation (D/G or G/G) 3.3%
  • 12. Down Syndrome
    • Diagnosis in an infant:
      • Flat facial profile 90%
      • Poor Moro Reflex 85%
      • Hypotonia 80%
      • Hyperflexibility of joints 80%
      • Excess skin on back of neck 80%
      • Slanted palpebral fissures 80%
      • Dysplasia of Pelvis 70%
      • Anomalous auricles 60%
      • Dysplasia midphalanx 5 th finger 60%
      • Single Palmar creases 45%
  • 13.  
  • 14. Down Syndrome
    • Single Palmar Crease
      • (NOT simian crease)
    • Sandal Gap
  • 15. Down Syndrome
    • The Positives
      • Loving – like to hug
      • Excellent memory
      • Usually very neat – cleanest room in the house
      • Usually well-groomed
      • Dependable workers
      • Less likely to develop coronary artery disease as same-aged adult peers
      • Now living longer
  • 16. Down Syndrome
    • Signs and complications in childhood
      • Hypotonia and midface hypoplasia
        • Obstructive sleep apnea in about 1/3
      • Rhizomelic shortening
      • Brushfield spots on irides (white flecks)
      • Single palmar crease (about half)
      • Heart Defects Endocardial cushion defect (ASD, VSD, valvular abnormalities)
      • Hypothyroidism cumulative risk rises with age
      • Atlano-axial subluxation 12-20% but many without symptoms
      • Duodenal stenosis/atresia, imperforate anus – both are rare
      • Leukemia incidence of 1%
        • Jag and GATA1 mutations associated with AMKL
  • 17. Down Syndrome
  • 18. Down Syndrome
    • Statement of the problem:
      • The life expectancy is high and continues to grow, so most persons with Down syndrome will be cared for by adult oriented physicians for most of their lives.
      • Pediatricians are comfortable caring for Down syndrome, but their adult medicine counterparts sometimes lack that confidence.
      • Down syndrome individuals have both age-related adult medical problems and specific problems due to Down syndrome.
      • Down syndrome individuals have acute and chronic conditions crossing many disciplines
  • 19. Down Syndrome
    • Crisis at age 21
      • Leave school
        • No longer have the education experience
        • Lose social contacts
      • Employment is sometimes difficult
        • Matching those willing to hire and those willing to work
        • Job coaches
      • Adopt activity level of caretakers
        • More sedentary lifestyle
        • Obesity
  • 20. Down Syndrome
    • Problems as they age
      • Loss of hearing
      • Increasing incidence of hypothyroidism
      • Celiac Disease
      • Diminished function
      • Mental illness – up to 30%
        • Depression, obsessive-compulsive disorder
      • Mislabeled as Alzheimer disease
  • 21. Down Syndrome
    • Complications as age progresses
      • Hearing loss
        • Lose high frequency first – just like the rest of us
        • Hearing loss encroaches on conversation at an earlier age
        • Cerumen impaction
      • Mental illness
        • Depression
        • OCD
        • late onset adolescent behavior
      • Aging of caretaker
        • Temporary custody change due to caretaker illness
        • Caretaker dies
  • 22. Down Syndrome
    • Complications as age progresses
      • Adult diseases
        • Gout
        • Hypertension
        • Hypothyroidism
      • Loss of function
        • Lose job
        • Out of their routine
        • Do not participate in family/social functions
      • Dementia
        • Alzheimer disease
  • 23. Down Syndrome
    • So why have a clinic devoted to Down syndrome?
      • Over 500 Down syndrome individuals in Alabama with no known options for healthcare once they leave pediatric care. Estimate based on a survey of pediatricians and population estimates. Probably over 1000 considering all of Alabama and bordering states.
      • Provide both primary and referral care for these individuals in one location.
  • 24. Down Syndrome
    • So why have a clinic devoted to Down syndrome?
      • Serves as a resource for providers both within and outside of the UAB system.
      • Allows for resumption of involvement for these families in the Down syndrome community.
  • 25. Down Syndrome
    • Structure of a clinic -Issues grouped:
      • Communication
      • Mobility
      • Obesity
      • Psychological
      • Health issues
        • Specific to DS
        • Not specific to DS
      • Succession of care
  • 26. Adult Down Syndrome Clinic
    • Solution to the problem.
      • Gather the needed expertise:
        • Adult care physician
        • Genetics
        • Psychiatry/psychology
        • Social work
        • Nutrition
        • Physical therapy
        • Occupational therapy
        • Audiology
        • Speech/communication
        • Financial and legal advisors
  • 27. Adult Down Syndrome Clinic
    • Solution to the problem.
      • Get the funding
        • Adult medicine physician, geneticist, psychiatrist
          • All can charge and receive reimbursement for services
          • The volume of patients anticipated inadequate to cover costs
        • Social work, Nutrition, Physical therapy,Occupational therapy, Audiology, Speech/communication, Financial and legal advisors
          • Receive reduced or no compensation for effort
  • 28. Adult Down Syndrome Clinic
    • Solution to the problem.
      • Get the funding
        • Combined Private and University effort.
          • GEF grant to assist in paying for providers who cannot receive reimbursement for their work – 2 years of funding
          • PADS will raise funds to subsidize the salaries of the physicians: allows medical providers to staff the clinic.
            • Goal is to endow the clinic budget
  • 29. Adult Down Syndrome Clinic
    • Get the word out
      • Multiple articles have been written targeting healthcare providers and the general public.
      • One television interview to highlight the goals of the clinic
      • Ribbon cutting ceremony
        • Coach Gene Stallings
        • UAB faculty and staff
        • Sparks clinic personnel
        • Self Advocates
  • 30. Adult Down Syndrome Clinic
    • Goals of the clinic
      • Provide state of the art healthcare in one location
      • Provide a sense of community for the families
      • Serve as a resource for healthcare workers outside the clinic setting
      • Serve as a model for other clinics serving adults with chronic conditions
      • Research efforts
  • 31. Adult Down Syndrome Clinic Research
    • Evidence-based medicine (EBM)
      • Aims to apply evidence gained from the scientific method to certain parts of medical practice. It seeks to assess the quality of evidence relevant to the risks and benefits of treatments (including lack of treatment).
      • According to the Centre for Evidence-Based Medicine: "Evidence-based medicine is the conscientious, explicit and judicious use of current best evidence in making decisions about the care of individual patients." [
  • 32. Adult Down Syndrome Clinic Research
    • EBM recognizes that many aspects of medical care depend on individual factors such as quality and value-of-life judgments, which are only partially subject to scientific methods.
    • EBM, however, seeks to clarify those parts of medical practice that are in principle subject to scientific methods and to apply these methods to ensure the best prediction of outcomes in medical treatment, even as debate about which outcomes are desirable continues.
  • 33. Adult Down Syndrome Clinic Research
    • Health and Well-Being Survey for the Adult Down Syndrome Clinic
    • This survey asks for your views about the health of the individual with Down syndrome. This information will help keep track of how they feel and how well they are able to do their usual activities. Thank you for completing this survey.
    • 1. In general, would you say the health of the individual is:
    • Excellent Very Good Good Fair Poor
    • q q q q q
    • ______________________________________________________________________
    • 2. The following questions are about activities the individual might do during a typical day. Does the individual’s health now limit them in these activities? If so, how much?
    • Yes Yes No, not
    • limited limited limited
    • A lot a little at all
    • Moderate activities such as moving q q q
    • a table, pushing a vacuum cleaner,
    • bowling or swimming.
    • Climbing several flights of stairs q q q
    • ______________________________________________________________________
    • 3. During the past 4 weeks, how much of the time has the individual had any of the following problems with work or other daily activities as a result of physical health.
    • All of Most Some A little None
    • the of the of the of the of the
    • Time time time time time
    • Accomplished less than q q q q q
    • would have liked.
    • Were limited in the kind of q q q q q
    • Work or other activities.
  • 34. Adult Down Syndrome Clinic Reserch
    • Goals of EBM
      • Ascertain the efficacy of our recommendations
      • Modify the Protocol of Care for Down Syndrome
    • In other words: Are our recommendations and treatments working? If not, how can they be improved?
  • 35. Adult Down Syndrome Clinic Research
      • Pie in the Sky
      • Observation 1: Our natural history of aging is reproduced in Down syndrome individuals, but the time frame is compressed.
      • Observation 2: Individuals with Down syndrome do not have coronary artery disease or heart attacks like the rest of us.
      • Observation 3: Individuals with Down syndrome do not have the number or extent of atheromas on autopsy
  • 36. Adult Down Syndrome Clinic Research
    • Possibility: The presence of gene(s) on chromosome 21 in 3 copies offers protection against atheroma formation.
      • Thrombin-induced Autoinhibitory Factor, Down Syndrome Critical Region-1, Attenuates NFAT-dependent Vascular Cell Adhesion Molecule-1 Expression and Inflammation in the Endothelium* Takashi Minami, Mai Miura, William C. Aird, and Tatsuhiko Kodama THE JOURNAL OF BIOLOGICAL CHEMISTRY VOL. 281, NO. 29, pp. 20503–20520, July 21, 2006
  • 37. Adult Down Syndrome Clinic Research
    • My question to Bob:
      • Can the ApoE -/- mouse be cured by giving it Down syndrome utilizing the Ts65Dn mouse or another mouse model of human trisomy 21?
  • 38. Adult Down Syndrome Clinic Research
    • Other mouse models at Stanford