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Adult Down Syndrome Clinic of the Southeast
Edward J. Lose
Department of Genetics
Department of Genetics
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
Down Syndrome
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.
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.
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.
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.
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.
Down Syndrome
Down Syndrome
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%
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 5th finger 60% Single Palmar creases 45%
Down Syndrome
Single Palmar Crease (NOT simian crease)
Sandal Gap
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
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
Down Syndrome
Life Expectancy in Years
0102030405060708090
100
1920 1930 1940 1950 1960 1970 1980 1990 2000 2010
Year
Ag
e Average Population
Cystic Fibrosis
Down Syndrome
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
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
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
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
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
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.
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.
Down Syndrome
Structure of a clinic -Issues grouped: Communication Mobility Obesity Psychological Health issues
Specific to DS Not specific to DS
Succession of care
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
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
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
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
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
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."[
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.
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.
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?
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
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
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?
Adult Down Syndrome Clinic Research Other mouse models at Stanford
