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
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
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.
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
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
(Preventive Medical Check List)
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
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
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
- Radiographic screening for atlanto-axial
instability once between 3 and 5 years, and then as needed for Special
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, thrombocytopenia.
Lab and Consults:
Chromosomal karyotype; genetic counseling; hematocrit or complete blood
count to investigate plethora (polycythemia) or thrombocytopenia
(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
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.
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.
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.
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.
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
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.
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 augmentive
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
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.
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
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 changes.
speech and language therapy, as indicated. For individuals with poor
expressive language skills, consider referral for augmentive 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
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
Cardiac: 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 echocardiogram 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
Dental Care: 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.
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
ENT: The midfacial
hypoplasia (underdevelopment) 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/nasophayngitis. 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
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
Endocrine: 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 T4. 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 T4 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 with DS, with a
prevalence rate between 1.4 and 10.6%. [References, Section M, Anwar et
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.]
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.
Hematology: 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 newborn period; in one series, as
high as 64% of children studied were affected
Disease/Immunology: 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 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.
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 child.
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. Atlantoaxial
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 atlantoaxial 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 atlantoaxial 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 atlantoaxial
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 Special Olympics.
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
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
Therapy: 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.
disorders: 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 hypothyroidism, 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
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 diet.
Genetics: 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 appropriate.
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.
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 augmentive (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.
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
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 retardation 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.
The presenting symptoms may include one of more of
the following: "decreased self-care, loss of skills in activities of daily
living, loss of verbal skills, loss of social skills, loss of job skills,
withdrawal, slow down in activity level, paranoid features, increase in
talking to themselves, aggressive behavior, self-abuse, change in sleep
patterns, weight change, and/or persistent forgetfulness." [See
References, Section B, Chicoine B, et al. p. 103]
The major differential diagnosis is between
depressive disorder and Alzheimer disease (dementia). Dementia is a
neuro-psychiatric syndrome of memory loss that prevents new information
form being learned and is characterized by a decline of intellectual
skills which impairs social and/or occupational functioning. Alzheimer
disease is a neurological disorder which is a progressive form of dementia
which has certain characteristic changes in the structure of the brain. It
results in a total inability to care for oneself, and, eventually, in
death. A careful history must be elicited from caregivers to look for
evidence of potentially reversible conditions, such as depression.
There has been great interest in the association of
Alzheimer disease with DS for two main reasons. First of all, pathological
study of the brains of individuals with DS reveal the characteristic
neuropathological findings of plaques and neurofibrillary tangles. These
changes can be found in relatively young individuals without signs and
symptoms of AD. Secondly, Chromosome 21 contains the genes for amyloid precursor
protein, and amyloid contributes to these pathological changes in the
brains of individuals with Alzheimer disease (AD). DS is associated with
other signs of early aging, and consequently these factors, in conjunction
with functional decline in individuals with DS, suggested this was a very
common problem. Current observers have noted that the original
observations were cross-sectional studies conducted on institutionalized
populations, and that this may be playing a role in the high incidence
described. For example, Zigman et al. cogently note that "the
neuropathological criteria for diagnosis of Alzheimer disease are not
strongly correlated to clinical expression of symptoms." Prasher's group,
involved in a longitudinal study, noted that "age-related decline in
adaptive skills does not equate to Alzheimer?s disease." If individuals
are in good physical health, there is usually no decline. This certainly
validates the experience of Chicoine and McGuire. Out of 443 adults seen
at their Clinic, 148 presented with a decline in function. And only 11/148
met the criteria for progressive and nonreversible decline and
deterioration and would therefore merit the diagnosis of AD. This
translates to 2.5% of the total 443 patients. [See References, Section X.]
The signs of depression in typical individuals
usually consist of a sad, irritable mood, along with disturbances of
appetite, sleep, and energy, and loss of interest in previously enjoyable
activities. Persons with Down syndrome are more likely to present with
skill and memory losses, significant activity slowdowns, and
hallucinatory-like self-talk and more extreme withdrawal (psychotic
features). Persons with Down syndrome often develop depressive disorders
in reaction to loss: death of a family member, change in a roommate,
retirement of a caregiver from a group home, etc.
In general, the presentation of most psychiatric
disorders tends to be more extreme, making the diagnosis more difficult.
For example, an anxiety disorder may be manifested by self-injurious
behavior or hyperactivity. Adjustment disorders to stressors may likewise
include more severe or dramatic symptoms, such as self-injury, reversal of
sleep patterns, and anorexia.
Schizophrenia and psychotic disorders occur very
infrequently in persons with Down syndrome in spite of the widespread use
of anti-psychotic medication.
Self-talk is common and usually developmentally
appropriate, given the cognitive levels of these individuals. Although
obsessions are rare, compulsive behaviors occur quite commonly.
Treatment is available for most of these disorders.
This treatment may consist of pharmacologic agents, psychotherapy, and/or
behavior therapies. It is important to stress that treatment should be
under the direction of an individual who is skilled in addressing
psychiatric disorders in individuals with mental retardation.
Kishnani and her colleagues at Duke University
report that the use of the acetylcholinesterase inhibitor donezepil
(Aricept) improved "communication, expressive language, attention and mood
stability" in four adults, ages 24, 27, 38, and 64. The two older patients
met diagnostic criteria for dementia. This pilot study suggests that this
treatment may be great value to adults with DS in general and as well as
those with AD. The drug had been given for 6 months with no significant
side effects observed. A large-scale double-blind placebo controlled study
is being planned.
Controversial ("Alternative") Therapies: Over the years, a number of
controversial treatments of therapies have been proposed for persons with
Down syndrome. Sometimes, such modalities are referred to as "alternative"
therapies, meaning that they are outside of the mainstream of traditional
medicine. Often the claims made in support of such treatments are similar:
that the treatment will result in improved intellectual function, alter
physical or facial appearance, decrease infections and generally improve
the well-being of the child with Down syndrome. Nutritional supplements
including vitamins, minerals, amino acids, enzymes and hormones in various
combinations represent one form of therapy. There are a number of
well-controlled scientific studies that have failed to show any benefit
from megadoses of vitamins and minerals. Supplemental zinc and/or selenium
may have an effect on immune function or susceptibility to infection, but
studies thus far have been inconclusive. Sicca cell treatment (also called
cell therapy) consists of injections of freeze-dried fetal animal cells,
and has not been shown to be of any benefit. It also has potential side
effects of allergic reactions and the risk of the transmission of slow
There has been much interest generated in 1995 in
the use of a Piracetam, a drug that is classified as a cerebral stimulant
or nootropic. It has been tried in adults with Alzheimer disease without
any benefit. It was shown to improve the reading abilities of typical boys
with dyslexia. Piracetam is not approved by the Federal Drug
Administration for use in the United States except as an orphan drug for
myoclonus. At the time of its initial popularity there had been no
scientific studies published reporting its use in children with Down
syndrome. DSMIG has expressed concerns about its use in young children in
the absence of studies demonstrating its safety. The first double-blind
placebo-controlled crossover study of Piracetam, conducted by Lobaugh and
her colleagues, was reported at the Pediatric Academic Societies Annual
Meeting in San Francisco CA on May 3, 1999. Twenty children with DS were
studied. There was no improvement in either cognitive or behavioral
measures. There were significant central nervous system side effects noted
which led the researchers to conclude that "it is unlikely that larger
doses can be tolerated." [See References, Section Y, Lobaugh et al.]
Facilitated communication is a technique whereby a
person known as a "facilitator" assists a person by providing support to
the hand or arm to enable them to communicate using some type of
communication keyboard. Although there are claims of usefulness for
persons with many types of disabilities, a number of carefully designed
studies have not established this as a valid treatment.
Some parents choose to include chiropractic care in
the spectrum of interventions for their children with Down syndrome. The
scope of the chiropractic services offered to children includes
musculoskeletal manipulations, recommendations for supplemental vitamins,
and agents purported to improve immunologic function. The range of
conditions claimed to be amenable to chiropractic treatment is broad and
includes constipation, gastroesophageal reflux, and ear infections.
Individuals with Down syndrome have ligamentous laxity and therefore may
be at increased risk of injury from cervical-spinal manipulation. Parents
should be very cautious when considering such treatment, especially if it
is promoted in lieu of immunizations, antibiotics for infections or
hormone replacement for endocrine deficiency.
The treatments mentioned in this section are only a
few of the approaches that have been tried or claimed to pose some benefit
to children with Down syndrome. So far, there are no alternative medical
therapies that have been scientifically documented to result in a
significant improvement in the development and health of children with
Down syndrome. Recently, members of DSMIG have received many anecdotal
reports of significant and satisfying changes in a wide variety of
functional areas (eg. muscle tone, sleep, general health, etc.) following
the institution of the use of nutritional supplements. We are carefully
evaluating these reports in order to be able to formulate a thoughtful
plan to address the questions voiced by the parents of children and adults
with Down syndrome about the value of these supplements.
Facial plastic surgery has been promoted in a number
of countries, especially Israel, as a means of altering some of the
physical features of Down syndrome. This is particularly controversial
when performed on young children, since the facial features naturally
undergo changes into adolescence. It is claimed that children are better
accepted by society. This is not a medically indicated procedure, and most
health insurance will not reimburse the surgeon or hospital. Tongue
reduction surgery has also been promoted to improve esthetic appearance.
Often this is recommended under the pretext of improving speech
intelligibility. Several studies have demonstrated that this surgery has
no effect on speech/language abilities nor the articulation of sounds.
[See References, Section Y.]
[Note: A selected list of current papers on Down
syndrome is published in each issue of Down Syndrome
Quarterly. This feature is edited by David Smith MD. (DS Center of
Wisconsin in Milwaukee WI.)]
References marked with an
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X. Psychiatry, Neurology, and
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*Y. Alternative Therapies
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Down's syndrome. Plastic and reconstructive surgery, 79 (1), 44-49.
*Parsons, C. L., Iacono, T. & Rozner, L. (1987).
Effect of tongue reduction on articulation in children with Down syndrome.
American Journal of Mental Deficiency. 91 (4), 328-332
* Z. Internet Resources
- 1. National Organizations
- National Down Syndrome Society: www.ndss.org
- National Association for Down Syndrome: www.nads.org
- National Down Syndrome Congress: www.ndsccenter.org
- 2. Journals
- Down Syndrome Quarterly
- Down Syndrome Research and Practice, information.downsed.org/library/periodicals/dsrp/
- Disability Solutions. www.disabilitysolutions.org
- 3. General Information
- Down Syndrome: Health Issues. www.ds-health.com/
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 firstname.lastname@example.org).
2American Academy of
Pediatrics, Guidelines for Health Supervision
III, Elk Grove Village, IL, 1997.
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
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.
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.