Health Care Guidelines for Individuals with
Down Syndrome: 1999 Revision
*Published in Down Syndrome Quarterly (Volume 4, Number 3, September, 1999). Reprinted with permission of
the Editor. Information concerning publication policy or subscriptions may be obtained by contacting Dr. Samuel J.
Thios, Editor, Denison University, Granville, OH 43023 (email@example.com).
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 compassionate care for individuals with Down Syndrome
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 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
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 the World Wide Web at the following
We have included with this document a Flow Chart adapted from Dr. David Smith’s document, used at the DS
Clinic of Wisconsin in Milwaukee. (See Appendix I) 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
Neonatal (Birth to one month)
History: Review parental concerns. Was there a prenatal diagnosis of DS? With vomiting or absence
of stools, check for gastrointestinal tract blockage (duodenal web or atresia, or Hirschsprung disease);
review feeding history to ensure adequate caloric intake; any concerns about hearing or vision?
Inquire about family support.
Exam: Pay special attention to cardiac examination; cataracts (refer immediately to an
ophthalmologist if the red reflex is not seen); otitis media; subjective assessment of hearing; and
fontanelles (widely open posterior fontanelle may signify hypothyroidism). Exam for plethora,
Lab and Consults: Chromosomal karyotype; genetic counseling; hematocrit or complete blood
count to investigate plethora (polycythemia) or thrombo-cytopenia (possible myeloproliferative
disorders); thyroid function test-check on results of state-mandated screening; evaluation by a
pediatric cardiologist including echocardiogram (even in the absence of a murmur); reinforce the
need for subacute bacterial endocarditis (SBE) prophylaxis in susceptible children with cardiac
disease; refer for auditory brainstem response (ABR) or otoacoustic emission (OAE) test to assess
congenital sensorineural hearing at birth or by 3 months of age. Refer for a pediatric ophthalmological
evaluation by six months of age for screening purposes. Refer immediately if there are any indications
of nystagmus, strabismus or poor vision. If feeding difficulties are noted, consultation with feeding
specialist (occupational therapist or lactation nurse) is advised.
Developmental: Discuss value of Early Intervention (infant stimulation) and refer for enrollment in
local program. Parents at this stage often ask for predictions of their child’s abilities: “Can you tell how
severe it is?” This is an opportunity to discuss the unfolding nature of their child’s development, the
importance of developmental programming, and our expectation of being able to answer that question
closer to two years of age.
Recommendations: Referral to local DS parent group for family support, as indicated.
Infancy (1 - 12 months)
History: Review parental concerns. Question about respiratory infections (especially otitis media); for
constipation, use aggressive dietary management and consider Hirschsprung disease if resistant to
dietary changes and stool softeners. Solicit parental concerns regarding vision and hearing.
Exam: General neurological, neuromotor, and musculoskeletal examination; must visualize tympanic
membranes or refer to ear, nose and throat (ENT) specialist, especially if suspicious of otitis media.
Lab and Consults: Evaluation by a pediatric cardiologist including echocardiogram (if not done in
newborn period): remember to consider progressive pulmonary hypertension in DS patients with a
VSD or atrioventricular septal defect who are having little or no symptoms of heart failure in this age
group. Auditory brainstem response test (ABR) by 3 months of age if not performed previously or if
previous results are suspicious. Pediatric ophthalmology evaluation by six months of age (earlier if
nystagmus, strabismus or indications of poor vision are present). Thyroid function test (TSH and T4),
at 6 and 12 months of age. Evaluation by ENT specialist for recurrent otitis media as needed.
Developmental: Discuss early intervention and refer for enrollment in local program (if not done
during the neonatal period). This usually includes physical and occupational therapy evaluations and
a developmental assessment.
Recommendations: Application for Supplemental Security Income (SSI) (depending on family income);
consider estate planning and custody arrangements; continue family support; continue SBE prophylaxis
for children with cardiac defects.
Childhood (1 year to 12 years)
History: Review parental concerns; current level of functioning; review current programming (early intervention,
preschool, school); ear problems; sleep problems (snoring or restless sleep might indicate obstructive sleep
apnea); constipation; review audiologic and thyroid function tests; review ophthalmologic and dental care.
Monitor for behavior problems.
Exam: General pediatric and neurological exam including evaluation for signs of spinal cord compression: deep
tendon reflexes, gait, Babinski sign. Include a brief vulvar exam for girls. Use Down syndrome growth charts, as
well as growth charts for typically developing children. Be sure to plot height for weight on the latter chart.
Lab and Consults: Echocardiogram by a pediatric cardiologist if not done previously; Thyroid function test
(TSH and T4) yearly; behavioral auditory testing every 6 months until 3 years of age, then yearly. Continue
regular eye exams every year if normal, or more frequently as indicated. Between 3 years and 5 years of age,
lateral cervical spine x-rays (neutral view, flexion and extension) to rule out atlanto-axial instability: have the
radiologist measure the atlanto-dens distance and the neural canal width. X-rays should be performed at an
institution accustomed to taking and reading these x-rays. Initial dental evaluation at two years of age with
follow-ups every six months. At 2-3 years of age, screen for celiac disease with IgA antiendomysium antibodies,
as well as total IgA. Administer Pneumococcal vaccine at 2 years of age.
Developmental: Enrollment in appropriate developmental or educational program; complete educational
assessment yearly, as part of Individualized Family Service Plan (IFSP) for children from birth to 3 years of
age, or Individualized Educational Plan (IEP) from age four until the end of formal schooling. Evaluation by a
speech and language pathologist is strongly recommended to maximize language development and verbal
communication. An individual with significant communication deficits may be a candidate for an augmentative
Recommendations: Twice daily teeth brushing. Total caloric intake should be below recommended daily
allowance (RDA) for children of similar height and age. Monitor for well-balanced, high fiber diet. Regular
exercise and recreational programs should be established early. Continue speech therapy and physical therapy
as needed. Continue SBE prophylaxis for children with cardiac defects. Monitor the family’s need for respite
care, supportive counseling and behavior management techniques. Reinforce the importance of good self-care
skills (grooming, dressing, and money handling skills).
Adolescence (12 to 18 years)
History: Review interval medical history, questioning specifically about the possibility of obstructive airway
disease and sleep apnea; check sensory functioning (vision and hearing); assess for behavioral problems;
address sexuality issues.
Exam: General physical and neurological examination (with reference to atlanto-axial dislocation). Monitor for
obesity by plotting height for weight on the growth charts for typical children. Pelvic exam if sexually active,
only. (See Consults, below.) Perform a careful cardiac exam in adolescents, looking for evidence of valvular
disease. Lab and consults: Thyroid function testing (TSH and T4) yearly. Hearing and vision evaluations every
year. Repeat screening cervical spine x-rays as needed for Special Olympic participation. Echocardiogram if
evidence of valvular disease on clinical exam. Consult with Adolescent Medicine practitioner or a gynecologist
experienced in working with individuals with developmental disabilities to address issues of sexuality and/or for
pelvic examination for sexually active teenager. Continue twice-yearly dental exams.
Developmental: Repeat psycho-educational evaluations every two years as part of Individualized Educational
Plan (IEP). Monitor independent functioning. Continue speech/language therapy as needed. Health and sex
education, including counseling regarding abuse prevention. Smoking, drug, and alcohol education.
Recommendations: Begin functional transition planning (age 16). Consider enrollment for SSI depending on
family income. 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. Discuss plans
for alternative long term living arrangements such as community living arrangements (CLA). Reinforce the
importance of good self-care skills (grooming, dressing, and money handling skills).
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 suspicions 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
Developmental: Continue speech and language therapy, as indicated. For individuals with poor expressive
language skills, consider referral for augmentative 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.
The following are an elaboration of the recommendations made above, as well as
other information designed to promote optimal health care for individuals with Down
Congenital heart disease is reported to occur in 30 - 60% of children with DS. Ventricular septal defects and
complete atrioventricular septal defects are among the most common. A serious cardiac defect may be present
in the absence of a murmur because of the increased tendency of children with DS to develop early increases
in pulmonary vascular resistance which reduces the left to right intracardiac shunt, minimizes the heart murmur,
and prevents symptoms of heart failure and respiratory problems. Children with DS with a significant cardiac
defect who seem to be doing clinically well or getting better, especially during the first 8 months of life, may be
developing serious pulmonary vascular changes. Timely surgery, frequently during the first 6 months of life,
may be necessary to prevent serious complications. Therefore, all infants and children need to have an
evaluation by a pediatric cardiologist, preferably before three months of age, which should include an
echocardiogram. In some tertiary care centers, an echocardiogram alone is satisfactory when it will be evaluated
by a pediatric cardiologist. If this is not available, a full evaluation by a pediatric cardiologist is mandatory. For the
older child, who has never had a cardiac evaluation and who has no signs of cardiac disease, a screening echo-
cardiogram is recommended. Adolescents and young adults with no known intracardiac disease can develop
valve dysfunction and should be evaluated by clinical examination at age 18, especially prior to dental or surgical
procedures. [See References, Section G, Geggel RL, et al.] There is a 57% incidence of mitral valve prolapse
and approximately a 10% risk of aortic regurgitation. The finding of a click or murmur should be followed by an
echocardiogram. Susceptible individuals will need SBE prophylaxis.
The orofacial features of individuals with DS contribute to a variety of potential problems in regards to dental
care. For example, the eruption of teeth is usually delayed and often occurs in an unusual order. Primary and
permanent teeth may be missing. Small or misshapen teeth are found, and severe crowding can occur because
of the small oral cavity. Orthodontic treatment may be necessary. Mouth breathing, related to the small nasal
airway, contributes to fissured tongue and lips. Periodontal disease can occur as early as the teen years, and
routine brushing combined with dental visits every 6 months play a key role in preventing tooth loss.
Hearing loss is a significant area of concern for individuals with DS. Infants and children may have a
sensorineural loss, a conductive loss (related to middle ear effusions) or both. All infants with DS should have an
objective measure of hearing performed at birth, if possible, or within the first 3months of life. The most common
method in widespread use is the measurement of auditory brainstem responses (ABR), also know as brainstem
auditory evoked response (BAER). Two screening methods include ABR screening in the newborn nursery,
and evoked oto-acoustic emission testing. The typical behavioral audiology requires a developmental age of
7-8 months. Consequently, all children with DS need an objective measure when tested in the first 12 months.
Subsequently, behavioral audiology may be appropriate. Most children with DS have very small ear canals,
making it difficult to examine them properly with the instruments found in the pediatrician’s office. Consequently,
it may be necessary to refer the child to an Ear, Nose, and Throat physician to visualize the tympanic
membranes using the microscopic otoscope. An ENT physician should evaluate all children with an abnormal
hearing evaluation and/or tympanogram in order to aggressively manage treatable causes of hearing loss (using
antibiotics and/or tympanostomy tubes as indicated). Fluid can accumulate as early as the neonatal period and
aggressive otologic care can minimize the effect of any hearing loss on language development.
Individuals with Down syndrome may begin to develop hearing loss in their second decade, which, if undetected
may lead to behavioral symptoms which could be misinterpreted as a psychiatric disorder.
The midfacial hypoplasia (under-development) that is characteristic of individuals with DS leads to increased
difficulty with narrow airways. The narrow nares (nostrils) manifest themselves as noisy breathing in the infant;
narrow openings to paranasal sinuses predisposes children to frequent sinusitus/naso-phayngitis. These
infections, manifested by purulent nasal discharge, should be aggressively treated. The narrow trachea can
result in recurrent croup. In addition, infants with DS have an increased likelihood of tracheomalacia (partial
collapse of the trachea).
Obstructive airway disease has been recognized as a significant problem for children and adults with DS.
Symptoms include snoring, unusual sleeping positions (sitting up or bending forward at the waist with head on
knees), fatigability during the day, reappearance of napping in older children or behavior change. Individuals
with these symptoms should be evaluated completely via detailed history (looking specifically for evidence of
sleep apnea), physical examination with regard to tonsillar size, and prompt referral to an ENT physician for
further evaluation (eg. assessment of adenoidal size). In a number of children, hypotonicity and collapse of the
airway leads to similar symptoms in the absence of obstruction caused by lymphoid tissue. Surgical intervention
may be necessary to avoid hypoxemia and possible cor pulmonale (right heart failure). In the absence of
surgically correctable problems, supplemental O2 therapy under pressure (such as bi-pap) may be indicated.
A recent study from Israel notes that children with DS have significant sleep fragmentation with frequent
awakenings and arousals that are not related to obstructive sleep apnea syndrome. [See References, Section
K, Levanon et al.]
Two studies point to the importance of keeping children with DS in the hospital overnight following tonsillectomy
and adenoidectomy, because of higher rate of postoperative respiratory complications. [See References,
Section K, Bower et al, and Goldstein et al.]
The incidence of thyroid disease is significantly increased among individuals with DS of all ages. Normal thyroid
hormone levels are necessary for growth and cognitive functioning. The signs of hypothyroidism may be subtle
in individuals with DS and may be attributed to the DS itself. Therefore, screening is recommended on a yearly
basis by monitoring TSH and T(subscript)4 levels. Since autoimmune conditions are common in individuals with
DS, evaluation of suspected hypothyroidism in the school age child should include thyroid antibodies to look for
thyroiditis. Some infants and young children have a condition known as idiopathic hyperthyrotropinemia, with
borderline abnormal TSH with normal T(subscript)4 This may reflect a neuroregulatory defect of TSH, which,
when studied by 24 hour sampling, varies between normal levels and very high levels. Therefore, some centers
recommend repeating the TSH and T4 every six months, withholding treatment unless the T(subscript)4 is low.
Immune-mediated hyperthyroidism also occurs in children and adults with DS. High sensitivity TSH levels will be
abnormally low in these cases. In addition, weight loss, GI symptoms and heat intolerance are often seen.
Diabetes mellitus, recognized to be an autoimmune condition, also occurs more frequently in individuals with
DS, with a prevalence rate between 1.4 and 10.6%. [References, Section M, Anwar et al.]
There has been some discussion about the use of human growth hormone in children with DS in response to
a report that suggested that children with DS have an abnormality of growth hormone secretion. This issue
has been addressed by members of the Down Syndrome Medical Interest Group, and published in Down
Syndrome Quarterly, Vol 1, Number 1 (March, 1996), page 8: “On the basis of the available evidence, and until
the recommended scientific studies are completed, the uncontrolled use of hormonal treatments such as growth
hormone in children with Down syndrome is not supported by the Down Syndrome Medical Interest Group.” A
recent study from Sweden and Australia reveals that treatment with human growth hormone did result in “normal
height velocity but did not affect head circumference or mental or gross motor development.” [See References,
Section M, Anneren G, Tuvemo T, Sava VR et al.]
Infants with DS may initially experience difficulty with coordination of suck and swallow. They may need
assistance of a feeding specialist (such as nurse specialists, occupational therapists, speech-language
pathologists) or lactation specialists, if the mother is nursing. Later on, toddlers may have difficulty with texture
progression. Significant disruption of family activities, involvement of more than two professionals indicates that
a consultation with a multi-disciplinary feeding team may be warranted. [See References Section N, Medlen.]
Remember that there is up to a 10% difference in basal metabolic rate for individuals with DS.
Follow % Ideal Body Weight, calculated as follows: plot child’s height on growth chart for typically developing
children and determine the age for which this height is at the 50th percentile. Determine the weight at the 50th
percentile for this height. Divide the actual weight of the child by this determined weight and multiple by 100.
Goal is 90% - 100% IBW. Chart this sequentially.
Leukemia is more common in children with DS than in the general population. Nevertheless, this is rare. Most
leukemia in children less than 3 years of age is non-lymphocytic leukemia (usually acute myelogenous leukemia).
Children with DS usually respond very favorably to standard treatment, going into remission easily. In the newborn
period, there is a 10% incidence of myelo-proliferative disorder (“leukemoid reaction”) which in some instances
develops into acute megakaryobalstic leukemia. Polycythemia has been frequently observed in the newoborn
period; in one series, as high as 64% of children studied were affected
Persons with DS who have serious recurrent respiratory and systemic infections are often evaluated for immune
function. Consider measuring the IgG subclasses in such individuals. Total IgG level may not disclose any
abnormality, although their may be a deficiency of IgG subclasses 2 and 4 and an increase of IgG subclasses 1
and 3. There is a significant correlation between the decreased IgG subclass 4 levels and bacterial infections.
The mechanism is not known but theories include the possibility that this subclass plays a role in pulmonary host
defense or possibly a deficiency of selenium. Intravenous gamma globulin replacement therapy should be a
consideration in a person with DS who presents with serious recurrent bacterial infections and documented IgG
IgG subclass 4 deficiency.
The cellular immunity deficits described in individuals with DS have the greatest documented clinical impact on
gingivitis and periodontal disease.
Children with chronic cardiac and respiratory disease are candidates for use of pneumococcal, respiratory synctial
virus,and influenza vaccines.
Congenital cataracts are a serious problem for infants with DS, leading to vision loss if not detected and treated.
The absence of a red reflex is sufficient cause for immediate referral to a pediatric ophthalmologist, as are
strabismus and nystagmus. Routine evaluations should begin at 6 months of age, and be performed annually
thereafter. Refractive errors are common and will be detected during these evaluations, as would serious, but
rarer, conditions, such as keratoconus. Stenotic nasolacrimal ducts may lead to tearing in infancy. Blepharitis and
conjunctivitis occur frequently. Keratoconus occurs more frequently in adolescents with DS than in the typical
Orthopedic Disorders & Atlanto-axial Instability (AAI)
Ligamentous laxity is responsible for a number of orthopedic difficulties in individuals with DS. Interestingly,
congenital hip dislocation is not commonly encountered. Hip dislocation is more often seen in the older child and
the adolescent. Chronic patellar dislocation can lead to gait disturbances in the adolescent. Atlanto-axial instability
is a term used to describe increased mobility of the cervical spine at the level of the first and second vertebrae.
This condition is found in approximately 14% of individuals with Down syndrome. The majority of individuals with
Atlanto-axial instability are asymptomatic, but approximately 10% of these individuals with AAI (representing 1%
of individuals with Down syndrome) have symptoms, which occur when the spinal cord is compressed by the
excessive mobility of the two vertebrae which form the Atlanto-axial joint. Symptoms of spinal cord compression
may include neck pain, unusual posturing of the head and neck (torticollis), change in gait, loss of upper body
strength, abnormal neurological reflexes, and change in bowel/bladder functioning.
Routine radiographic screening for Atlanto-axial instability of individuals with Down syndrome is controversial. In
a recent review, the American Academy of Pediatrics Committee on Sports Medicine and Fitness concluded that
screening radiographs are of “potential but unproven value” in detecting individuals at risk from sports injury. Close
clinical scrutiny and further study of this issue was recommended. However, these studies continue to be required
for participation in Special Olympics and community programs in horseback riding, gymnastics, etc.
Currently, DSMIG recommends screening individuals between 3 and 5 years of age with lateral cervical
radiographs in the neutral, flexed, and extended positions. The space between the posterior segment of the
anterior arch of C1 and the anterior segment of the odontoid process of C2 should be measured. Measurements
of less than 5 mm are normal; 5 to 7 mm indicates instability, and greater than 7 mm is grossly abnormal. The
cervical canal width should also be measured. The interpretation of these studies should be performed by a
radiologist experienced in this area. Individuals with Down syndrome who have not been screened may need to be
evaluated prior to surgical procedures, especially those involving manipulation of the neck. These children should
be managed cautiously by anesthesiology staff. The studies should be repeated, as needed, for participation in
Children with borderline findings or abnormal films should be evaluated with a careful neurological examination to
rule out spinal cord compression. Neuro-imaging (CT Scan or MRI) is probably indicated. Significant changes in a
child’s neurological status would necessitate evaluation and possible treatment (i.e, spinal fusion). Asymptomatic
children with instability (5 to 7 mm) should be managed conservatively, with restriction only in those activities
which pose a risk for cervical spine injury. Contact sports, such as football, wrestling, rugby, boxing, and
recreational activities such as trampolining, gymnastics (tumbling), and diving, which require significant flexion of
the neck, would best be avoided. It is unnecessary to restrict all activities.
We are no longer recommending repeat screenings at fixed intervals, inasmuch as the value of this procedure has
not yet been confirmed in preventing injury. We strongly recommend careful neurological examination of the
individual with Down syndrome, immediate attention to symptoms indicating neck or spinal cord problems
(see above), and vigilance by ENT physicians and anesthesiologists during surgical procedures which may
hyperextend the neck.
The editor understands that the Special Olympics Medical Advisory Committee is involved in clarifying the
problematic issue of detection and prevention of spinal cord injuries. [For a recent review of the subject, see
References, Section W, Pueschel (1998) & Cohen (1998).]
Since infants with DS may have difficulty with feeding from birth, keep in mind that many centers have
professionals (such as occupational therapists, speech pathologists, feeding nurse specialists, etc) who can
provide expertise in this area. Some centers involve the occupational therapist or feeding specialist on a
routine basis, while others assess the child’s oral-motor function and refer as needed. In general, physical and
occupational therapy services are included in most early intervention programs for infants, where positioning,
feeding, and motor strengthening exercises are some of the services available.
In addition to congenital abnormalities, such as duodenal atresia and imperforate anus, which are readily
identifiable, babies with Down syndrome are more likely to have partial upper GI obstruction (duodenal web),
tracheo-esophageal fistula, and pyloric stenosis. Chronic constipation occurs frequently, and the serious
conditions in the differential diagnosis includes hypo-thyroidism, and Hirschsprung disease. Failure to pass
meconium in the first 24 hours suggests the possibility of Hirschsprung disease. Significant constipation which is
refractory to dietary management warrants further investigation, such as referral to a pediatric gastroenterologist
for further studies (barium enema, rectal biopsy).
Gastroesophageal reflux (GER) occurs in infants with DS, as it does in the typical population. In addition to
spitting up and vomiting, some children have respiratory symptoms, such as cough, stridor, wheezing and
pneumonia. GER must be part of the differential diagnosis for these conditions, and appropriate treatment given.
Celiac disease occurs in from 7 to 16% of children with DS, though many of these studies are from European
sources. Individuals with DS are felt to be predisposed to this condition because of the known increased
incidence of autoimmune disorders. Screening is best accomplished using IgA antiendomysium antibodies,
following up positive results with a villous biopsy. Symptoms usually resolve following institution of a gluten-free
A medical genetics consultation should be encouraged, in order to explain the genetic basis and
risk of recurrence of DS. Such consultation may be considered optional for children with Trisomy 21.
However, in cases of translocation, the parents should be evaluated to determine whether one of them
is a balanced carrier of the translocation, thereby increasing the likelihood that subsequent children
may have Down syndrome. This service should also be made available to individuals with DS, when
Prenatal screening & testing technologies continue to evolve. Proposed methods include separating
fetal cells from the maternal circulation, and use of multiple serum markers and nuchal thickness as
measured by ultrasonography.
Developmental, including Speech and Language
Early intervention programs (for infants 0-3 years old) are designed to comprehensively monitor and enrich
development, focusing on feeding, gross and fine motor development, language, and personal/social
development. Individuals with DS frequently understand spoken language better than they can express
themselves verbally. Consequently, infants and children may be taught language using a total communication
approach, which includes signing as well as spoken language. Signing permits these children to communicate
more effectively at a time when their expressive language abilities may preclude the development of intelligible
speech. Speech and language services should be considered throughout life, to maximize intelligibility.
Additionally, some individuals may benefit from the use of augmentative (computer-based) communication
devices. Children with DS often continue to develop verbal expressive language into their adolescent and young
adult years. The strong visual skills of individuals with DS have led to the development of reading programs to
improve speech and language development. [See References, Section N, Laws et al.] Professor Sue Buckley
has researched this area extensively. Many reports are published in Down Syndrome Research and Practice.
[See References, Section Z, Internet Resources.] Gynecology: Sexually active women should have a cytologic
screening (Pap smear) every 1-3 years, starting at the age of first intercourse. Those women who are not sexually
active should have a single-finger “bimanual” examination with a finger directed cytologic screening every 1-3
years. Screening transabdominal pelvic ultrasound every 2 to 3 years for women who have a baseline bimanual
examination but refuse to have or have inadequate follow-up bimanual examinations of adnexa and uterus. Yearly
mammograms for women over 50 years of age. Begin yearly mammograms at age 40 for women with a first-
degree relative with breast cancer. [Adapted from Heaton CJ, “Providing reproductive health services to persons
with Down syndrome and other mental retardation.” See References, Section Q, for full reference.)
The frequency of seizure disorders in persons with Down syndrome is greater than that seen in the general
population, but lower than in persons with mental retardation due to other etiologies. Recent studies report an
incidence of 5-10%. There appears to be a relationship between age and seizure prevalence in Down syndrome,
with the peaks occurring in infancy and again in the fourth or fifth decade. There also appears to be a smaller
peak in adolescence. Infantile spasms are the most common type of seizures seen in infancy and usually are
well controlled with either steroids or other anticonvulsants. They generally have a favorable cognitive outcome,
compared with the general population. Tonic-clonic seizures are most commonly seen in older persons with Down
syndrome, and they respond well to anticonvulsant therapy in most cases. The increased incidence of seizures is
not thought to be solely the result of abnormal brain development, but can be related to cardiac defects, infections,
and irregularities of one or more neurotransmitters.
Attention Deficit Hyperactivity Disorder (ADHD)
Attention Deficit Hyperactivity Disorder (ADHD) occurs in individuals with Down syndrome in the same frequency
as it does in the general population of individuals with mental retardation. In both cases, this is more frequent
than in the general population. In general, children with Down syndrome respond well to stimulant therapy. There
is no research to indicate that children with Down syndrome respond any differently to stimulant medication than
children with other etiologies of mental retardation, who respond, in general, very well.
Autistic disorders appear to be more prevalent in children and adults with Down syndrome. Whereas the incidence
of autism in the general population is reported at 13 per 10, 000 population, current evidence suggests that the
prevalence in Down syndrome is approximately 5 to 10 %.. [See References, Section X, Cohen & Patterson.]
Neuropsychiatric Disorders, Including Alzheimer Disease
Changes in behavior and decline in intellectual and functional capabilities usually leads the caregivers of persons
with Down syndrome to consider the possibility of a psychiatric disorder. After excluding any medical reason(s) for the
behavior, the individual should be evaluated by a clinician who is skilled in assessing individuals with mental .
and psychiatric disorders. There are potential limitations in diagnosing psychiatric disorders in persons with Down
syndrome. Individuals with moderate or severe mental retardation generally are unable to accurately describe their
thoughts and perceptions. Persons with mild mental retardation, however, may be able to accurately respond to
questions about feelings, perceptions, and thoughts.
This section will focus on affective disorders, adjustment disorders, dementia (including Alzheimer disease),
anxiety disorders, compulsive behavior. Attention Deficit Hyperactivity Disorder (ADHD) and autistic disorders are
discussed in the preceding section.