[To A Parent]
Health Care Guidelines For Individuals
With Down Syndrome: 1999 Revision -
Notes from the webmasters:
The information below is meant for physicians who are treating patients with Down syndrome and is reprinted with permission.
The original version of this information is available at this site.
Although this information is meant for physicians, parents should review it. Parents may also wish to make a copy of this
information for their child's pediatrician.
One flaw which has been corrected in this update to the guidelines is the coverage of gastrointestinal reflux. Our own
experience and the
experience of many of the parents that we have spoken to is that this condition is fairly common among children with
Down syndrome especially when hypotonia is also present. Doctors should keep this possibility in their mind when
treating young children with Down syndrome and may wish to consult with a GI specialist.
For printing purposes, this document is available in text format:
Health Care Guidelines For Individuals With Down Syndrome as a text document
Health Care Guidelines For Individuals With Down Syndrome: 1999 Revision
Reprinted with permission from Down Syndrome Quarterly, Volume 4, Number 3, September, 1999
Edited by William I. Cohen, M.D. for the Down Syndrome Medical Interest Group (DSMIG)1
(Down Syndrome Preventive Medical Check List)
Edited by William I. Cohen M.D. for the Down Syndrome Medical
Dedicated to the memories of Chris Pueschel and Thomas E.
Elkins M.D., two individuals, who, each in his own way, has
inspired us to provide compassioinate care for individuals with
Individuals with Down syndrome (DS) need the usual health care screening
procedures recommended for the general population. For example, children
with DS need the usual immunizations and well child care procedures as
recommended by the American Academy of Pediatrics.2 Immunization
practices are continually evolving: be certain to use the most up-to-date
protocols.3 Similarly, adults with DS should have health
using the standard accepted practices. However, children with DS have an
increased risk of having certain congenital anomalies. Both children and
adults may develop certain medical problems that occur in much higher
frequency in individuals with DS. Described below is a checklist of
additional tests and evaluations recommended for children and adults with
DS. These recommendations should take into consideration available local
expertise and referral patterns. They are based on our present level of
knowledge and should be modified as new information becomes available.
Modern primary health care includes educational and developmental concerns
within its domain, and therefore we have included information and
recommendations specific to these needs of individuals with DS.
These recommendations are a thoughtful composite of the input of many
clinicians involved in the care of people with DS. They reflect current
standards and practices of health care in the United States of America.
They have been designed for a wide audience: for health care professionals
who are providing primary care, such as pediatricians, family physicians,
internists, and geneticists, as well as specialists, nursing personnel and
other allied health professionals, such as physical and occupational
therapists, speech-language pathologists, and audiologists. In addition to
educators and early intervention providers, these guidelines are designed
for parents and other caregivers to use with the professionals who
participate in the care of the individual with DS.
Certain recommendations are clearly supported by current scientific
knowledge. This is the case for the recommendations to look for thefor the
presence of congenital heart disease, which occurs in some 50% of infants
with DS. In other cases, the recommendations represent our educated
guesses. Recognizing the increased frequency of thyroid dysfunction in
children with DS, we continue to recommend yearly screening for
hypothyroidism. However, we are uncertain as the appropriate periodicity
and nature of the screening: how often, and what constitutes an adequate
screening. This question, and others, will be answered by the anticipated
development of a large-scale clinical database.
Be certain to use the specific DS growth charts in addition to regular
charts to record height and weight (for children from birth to 18 years of
age), and head circumference (for children birth to 36 months of
a child is below the third percentile, or if falling off the expected
percentiles, consider congenital heart disease, endocrine disorders
(thyroid or pituitary), or nutritional factors. Because children with DS
have a tendency to become overweight, always use the "Weight v. Height"
plots on the growth charts for typically developing children; this will
give a more realistic picture of appropriateness of a child's weight.
[Note: Immediately following the recommendations by age, you will
find explanations for the specific medical recommendations listed below,
descriptive information about other areas of interest to individuals
interested in the needs of individuals with Down syndrome, and an updated
About these Health Care Guidelines
(Preventive Medical Check List)
These health guidelines continue the series begun in 1981, by Dr. Mary
Coleman, and published in Down Syndrome Papers and Abstracts for
Professionals (DSPAP), the predecessor of this Down Syndrome Quarterly.
The 1992 version was prepared by the members of the Ohio/Western
Pennsylvania Down Syndrome Network and published in DSPAP (Volume 15,
Number 3, 1992, 1-9) and was based on the 1989 version prepared by Dr
Nancy Roizen, University of Chicago. The 1996 version was the first one
prepared by the Down Syndrome Medical Interest Group (DSMIG).
In July, 1994, the Committee on Genetics of the American Academy of
Pediatrics published "Health Guidelines for Children with Down
Members of DSMIG have been fortunate to work with the Committee during
their recent review of their "Health Guidelines" for the purpose of
coordinating these efforts and removing differences and incongruities.
This version therefore reflects the shared screening protocol, which the
Committee will publish in Pediatrics in early 2000. The editor wishes to
express his appreciation to Drs Marilyn Bull and Nancy Roizen for their
liaison work with the Committee, and to Dr. Franklin Desposito, committee
chair, and Dr. Tracy Trotter and the other members of the committee for
their substantial assistance in this joint effort. The preparation of this
revision has been a cooperative effort. The editor has been particularly
fortunate to have the expertise of several members of Down Syndrome
Medical Interest Group (DSMIG).6
This is one of many such compilations. Please see the References,
Section C, for a selected list of other protocols.
A NOTE ABOUT FLOW CHARTS: These "Health Guidelines" were prepared
goal of providing both depth and breadth to the topic of health promotion
for individuals with Down syndrome. We trust that this will serve as a
reference for families, educators, agencies, and, of course, health care
providers. Nevertheless, we recognize the ease and simplicity of using a
summary of these guidelines in a one-page graphic format. Such a summary
can be placed in the front of a family's medical record book, and
likewise, in the front of a medical chart for rapid consultation. Several
members of DSMIG have developed such forms. In 1989, Dr. Allen Crocker
prepared a "Healthwatch for Persons with Down Syndrome", which is
reprinted in Dr. W. Carl Cooley's chapter in Van Dyke, D. C. et al, Ed.,
Medical and Surgical Care for Children with Down Syndrome. The current
version "Healthwatch for the Person with Down
Syndrome II" is available on this web site.
Dr. Brian Chicoine
has prepared a variety of materials for providing health care to adults
with Down syndrome. These include history questionnaires, review of
systems checklists, physical examination forms and an assessment/plan form
which includes screening information. You can contact him at the Adult
Down Syndrome Clinic at Lutheran General Hospital, Park Ridge, IL at
847-795-2303 if you wish to obtain this material.
What's New for 1999
- Additional thyroid screening at 6 months of age.
- Hearing evaluations at birth, and every 6 months thereafter until 3 years.
- Eye evaluations by 6 months of age and yearly.
- Celiac disease screening between 2 and 3 years of age.
- Radiographic screening for atlanto-axial instability once between 3 and 5 years, and then as needed for Special Olympics
1The Down Syndrome Medical Interest Group (DSMIG) was
founded in early 1994 with the express purpose of serving as a forum for
professional addressing aspects of medical care of persons with Down
syndrome. Bonnie Patterson, M.D. and William I. Cohen, M.D. serve as
co-chairs. DSMIG wished to promote the highest quality care for
Children and adults with DS 1) by fostering and provoding professional and
community education; 2) by disseminating tools for clinical care and
professional support; such as these Health Guidelines; 3) and by engaging
in collaborative clinical research regarding issues related to the care of
individuals with Down syndrome. DSMIG schedules its meetings with a
variety of national organizations, such as the National Down Syndrome
Congress (NDSC), the National Down Syndrome Society (NDSS), the American
Association of Mental Retardation (AAMR), etc. For more information on
DSMIG, contact William I. Cohen, M.D. at Children's Hospital of
Pittsburgh, 3705 Fifth Avenue, Pittsburgh, PA 15213 (412-692-7693 or
2American Academy of Pediatrics, Guidelines for Health
Supervision III, Elk Grove Village, IL, 1997.
3Recommended Childhood Immunization Schedule, United States,
January-December, 1999. Approved by the Advisory Committee on Immunization
Practices (ACIP), The American Academy of Pediatrics (AAP), and the
American Academy of Family Physicians (AAFP).
4Available on the internet at www.growthcharts.com
5American Academy of Pediatrics Committee on Genetics,
"Health Guidelines for Children with Down Syndrome", Pediatrics,
6Special thanks to the following individuals: Marilyn Bull,
M.D. (Celiac disease & Immunoglobulins); Kim McConnell, M.D. (Alternative
Therapies); David Smith, M.D. (Bibliography); Marilyn Bull, M.D. (Growth
Hormone Position Statement); Caryl Heaton, D.O. (Gynecology); Brian
Chicoine, M.D. & David Smith, M.D. (Adult Health Care); Allen Crocker,
M.D., Golder Wilson, M.D. Ph.D., W. Carl Cooley, M.D. and Francis hickey,
M.D. & David Smith, M.D. (Flow Charts); Joan Medlen, R.D.
(Feeding/Nutrition) and Nancy Murray, M.S., Robert Pary, M.D. and Dennis
McGuire, Ph.D. (Psychiatry/Mental Health).
Reprinted with permission from Down Syndrome Quarterly,
Volume 4, Number 3, September, 1999
Healthwatch for Persons with Down Syndrome
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