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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

(Down Syndrome Preventive Medical Check List)

Edited by William I. Cohen M.D. for the Down Syndrome Medical Interest Group¹

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 Down Syndrome.

Introduction

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 evaluations 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 age).⁴ If 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 bibliography.]

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 syndrome.⁵ 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 with the 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

Foot Notes

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 cohenb@chplink.chp.edu).

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, 1994; 93:855-859.

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).