[Reprinted from Down Syndrome Quarterly, Volume 4, Number 3, September, 1999]

Health Care Guidelines for Individuals with Down Syndrome: 1999 Revision

(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
indivisuals, who, each in his own way, has inspired us to provide compassioinate
care for individuals with Down Syndrome

Introduction Individuals with Down syndrome (DS) need the usual health care
screening procedures recommended for the general population. For example,
children with DS need the usual immunizations and well child care procedures as
recommended by the American Academy of Pediatrics.2 Immunization practices are
continually evolving: be certain to use the most up-to-date protocols.3
Similarly, adults with DS should have health evaluations using the standard
accepted practices. However, children with DS have an increased risk of having
certain congenital anomalies. Both children and adults may develop certain
medical problems that occur in much higher frequency in individuals with DS.
Described below is a checklist of additional tests and evaluations recommended
for children and adults with DS. These recommendations should take into
consideration available local expertise and referral patterns. They are based on
our present level of knowledge and should be modified as new information becomes
available. Modern primary health care includes educational and developmental
concerns within its domain, and therefore we have included information and
recommendations specific to these needs of individuals with DS.

These recommendations are a thoughtful composite of the input of many clinicians
involved in the care of people with DS. They reflect current standards and
practices of health care in the United States of America. They have been
designed for a wide audience: for health care professionals who are providing
primary care, such as pediatricians, family physicians, internists, and
geneticists, as well as specialists, nursing personnel and other allied health
professionals, such as physical and occupational therapists, speech-language
pathologists, and audiologists. In addition to educators and early intervention
providers, these guidelines are designed for parents and other caregivers to use
with the professionals who participate in the care of the individual with DS.

Certain recommendations are clearly supported by current scientific knowledge.
This is the case for the recommendations to look for thefor the presence of
congenital heart disease, which occurs in some 50% of infants with DS. In other
cases, the recommendations represent our educated guesses. Recognizing the
increased frequency of thyroid dysfunction in children with DS, we continue to
recommend yearly screening for hypothyroidism. However, we are uncertain as the
appropriate periodicity and nature of the screening: how often, and what
constitutes an adequate screening. This question, and others, will be answered
by the anticipated development of a large-scale clinical database.

Be certain to use the specific DS growth charts in addition to regular charts to
record height and weight (for children from birth to 18 years of age), and head
circumference (for children birth to 36 months of age).4 If a child is below the
third percentile, or if falling off the expected percentiles, consider
congenital heart disease, endocrine disorders (thyroid or pituitary), or
nutritional factors. Because children with DS have a tendency to become
overweight, always use the "Weight v. Height" plots on the growth charts for
typically developing children; this will give a more realistic picture of
appropriateness of a child's weight.

[Note: Immediately following the recommendations by age, you will find
explanations for the specific medical recommendations listed below, descriptive
information about other areas of interest to individuals interested in the needs
of individuals with Down syndrome, and an updated bibliography.]

About these Health Care Guidelines (Preventive Medical Check List)

These health guidelines continue the series begun in 1981, by Dr. Mary Coleman,
and published in Down Syndrome Papers and Abstracts for Professionals (DSPAP),
the predecessor of this Down Syndrome Quarterly. The 1992 version was prepared
by the members of the Ohio/Western Pennsylvania Down Syndrome Network and
published in DSPAP (Volume 15, Number 3, 1992, 1-9) and was based on the 1989
version prepared by Dr Nancy Roizen, University of Chicago. The 1996 version was
the first one prepared by the Down Syndrome Medical Interest Group (DSMIG).

In July, 1994, the Committee on Genetics of the American Academy of Pediatrics
published "Health Guidelines for Children with Down syndrome.5 Members of DSMIG
have been fortunate to work with the Committee during their recent review of
their "Health Guidelines" for the purpose of coordinating these efforts and
removing differences and incongruities. This version therefore reflects the
shared screening protocol, which the Committee will publish in Pediatrics in
early 2000. The editor wishes to express his appreciation to Drs Marilyn Bull
and Nancy Roizen for their liaison work with the Committee, and to Dr. Franklin
Desposito, committee chair, and Dr. Tracy Trotter and the other members of the
committee for their substantial assistance in this joint effort. The preparation
of this revision has been a cooperative effort. The editor has been particularly
fortunate to have the expertise of several members of Down Syndrome Medical
Interest Group (DSMIG).6

This is one of many such compilations. Please see the References, Section C, for
a selected list of other protocols.

A NOTE ABOUT FLOW CHARTS: These "Health Guidelines" were prepared with the goal
of providing both depth and breadth to the topic of health promotion for
individuals with Down syndrome. We trust that this will serve as a reference for
families, educators, agencies, and, of course, health care providers.
Nevertheless, we recognize the ease and simplicity of using a summary of these
guidelines in a one-page graphic format. Such a summary can be placed in the
front of a family's medical record book, and likewise, in the front of a medical
chart for rapid consultation. Several members of DSMIG have developed such
forms. In 1989, Dr. Allen Crocker prepared a "Healthwatch for Persons with Down
Syndrome", which is reprinted in Dr. W. Carl Cooley's chapter in Van Dyke, D. C.
et al, Ed., Medical and Surgical Care for Children with Down Syndrome. The
current version "Healthwatch for the Person with Down Syndrome II" is available
on the World Wide Web at the following location:

<a href="http://www.downsyn.com/guidelines/healthwatch.html">
http://www.downsyn.com/guidelines/healthwatch.html</a>

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, thrombocytopenia.

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 childÕs 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 augmentive
communication device.

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 familyÕs 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 suspicisions 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.

Developmental: Continue 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 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.

<hr>

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 syndrome:

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 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.

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.

Ears/Audiology: 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.

ENT: 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.]

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 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 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.]

Feeding/Nutrition: 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 childÕs 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 newoborn period; in one series, as high as 64% of children studied were
affected

Infectious 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.

Eye/Vision: 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 child.

Orthopedic Disorders & Atlan-toaxial 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 childÕs
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).]

Physical/Occupational 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
childÕs 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.

Gastro-intestinal 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 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 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.

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
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.)

Neurodevelopmental Issues: 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) 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 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, Chr 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 Òthe
neuropathological criteria for diagnosis of Alzheimer disease are not strongly
correlated to clinical expression of symptoms.Ó PrasherÕs group, involved in a
longitudinal study, noted that Òage-related decline in adaptive skills does not
equate to AlzheimerÕs disease.Ó 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 Òcommunication,
expressive language, attention and mood stabilityÓ 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.

Unconventional and 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 virus infections.

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.]

Selected References

[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 asterisk are those added to the 1999 revision of the
Health Care Guidelines


A. Overview

Barclay, A. (Ed.). (1995). Caring for individuals with Down syndrome and their
families, Report of the Third Ross Roundtable on Critical Issues in Family
Medicine, Columbus, Ohio: Ross Products Division, Abbott Laboratories.

Giesinger, C., for the Canadian Down Syndrome Society. Annotated bibliography of
journal articles on Down syndrome for parents and primary caregivers. Calgary,
AB: CDSS, no date. [Telephone 403-270-8500]

*Cohen, W. I. (1999). Down syndrome: Care of the child and family. In: Levine,
M. D., Carey, W. B., & Crocker, A. C. (Eds.), Developmental Behavioral
Pediatrics. (3rd ed.). Philadelphia: W. B. Saunders.

Cooley, W. C., & Graham, J. M. (1991). Down syndrome - An update and review for
the primary care physician. Clinical Pediatrics, 30 (4), 233-253.

Denholm, C. J. (Ed.). (1991). Adolescents with Down syndrome: International
perspectives on research and program development. Victoria, BC: University of
Victoria.

*Hassold, T., & Patterson, D. (1998). Down syndrome: A promising future,
together. New York: Wiley-Liss.

Lott, I. T., & McCoy, E. E. (1991). Down syndrome: Advances in medical care. New
York: Wiley-Liss.

*Nadel, L., & Rosenthal, D. (1995). Down syndrome: Living and learning in the
community. New York: Wiley-Liss.

Pueschel, S. M., & Pueschel, J. K. (1992). Biomedical concerns in persons with
Down syndrome. Baltimore: Paul Brookes.

*Pueschel, S. M., & Sustrova, M. (Eds.). (1997). Adolescents with Down syndrome:
Toward a more fulfilling life. Baltimore, Paul Brookes.

*Roizen, N. J. (Ed.). (1996). Down syndrome. Mental Retardation and
Developmental Disabilities Research Reviews, 2 (2).

*Roizen, N. (1997). Down syndrome. In Batshaw, M. L. (Ed.), Children With
Disabilities (4th ed.). Baltimore: Paul Brookes.

*Tolmie, J. L. (1997). Down syndrome and other autsomal trisomies. In Rimoin, D.
L., Connor, J. M., & Pyeritz, R. E., Emery and RimoinÕs Principles and Practice
of Medical Genetics. New York: Churchill Livingstone.

Rogers, P. T., & Coleman, M. (1992). Medical care in Down syndrome. New York:
Marcel Dekker.

*Saenz, R. B. (1999). Primary care of infants and young children with Down
syndrome. American Family Physician, 59 (2), 381-390, 392, 395-396. Van Dyke, D.
C. (1989). Medical problems in infants and young children with Down syndrome:
Implications for early services. Infants and Young Children, 1 (3), 39-50.

*Vessey, J. A. (1996). Down syndrome, In Jackson, P. L., & Vessey, J. A. Primary
care of the child with a chronic condition. St. Louis: Mosby.

B. Adult Health

Chicoine, B., McGuire, D., Hebein, S., & Gilly, D. (1994). Development of a
clinic for adults with Down syndrome. Mental Retardation. 32 (2).100-106.

*Piachaud, J., Rodhe, J., & Pasupathy, A. (1998). Health screening for people
with DownÕs syndrome. Journal of Intellectual Disability Research, 42 (Pt 5),
341-345.

C. Other Checklists and Protocols

American Academy of Pediatrics Committee on Genetics, ÒHealth guidelines for
children with Down syndromeÓ (1994). Pediatrics, 93, 855-859.

Chicoine, B., McGuire, D., Hebein, S., & Gilly, D. (1994). Development of a
clinic for adults with Down syndrome. Mental Retardation, 32 (2), 100-106.

*Crocker, A. (Ed.). Healthwatch for persons with Down syndrome II. Available on
world wide web on the National Down Syndrome Congress site: www.
members.carol.net/~ndsc/hw_table.html

Pueschel, S. M., Anneren, G., Durlach, R., Flores, J., Sustrova, M., & Verma, I.
C. (1995). Guidelines for optimal medical care of persons with Down syndrome.
International League of Societies for Persons with Mental Handicap (ILSMH). Acta
Paediatrica, 84 (7), 823-7.

D. Specifically for Families

*Beck, M. (1999). Expecting Adam, New York Times.

*Berube, M. (1998). Life As We Know It: A Family, A Father, and an Exceptional
Child. New York: Vintage.

*Bruni, M. (1998). Fine Motor Skills in Children with Down Syndrome: a Guide for
Parents and Professionals. Bethesda: Woodbine House.

Kumin, L. (1994). Communication Skills for Children with Down Syndrome: A Guide
for Parents. Bethesda: Woodbine House.

*La Leche League International, (1997). Breastfeeding a Baby with Down Syndrome
(pamphlet). La Leche League International.

*Selikowitz, M. (1997). Down Syndrome: The Facts. New York: Oxford.

*Stray-Gundersen, K. (1995). Babies with Down Syndrome. (2nd Ed.). Bethesda:
Woodbine House. Van Dyke, D. C., Mattheis, P., Eberly, S. S., & Williams, J.
(Eds.). (1995). Medical and Surgical Care for Children with Down Syndrome: A
Guide for Parents. Bethesda: Woodbine House.

*Winders, P. (1997). Gross Motor Skills in Children with Down Syndrome: A Guide
for Parents and Professionals. Bethesda: Woodbine House.

E. Anesthesia

DeLeon, S. Y., Ilbawi, M. N., Egel, R. T., et al. (1991). Perioperative spinal
canal narrowing in patients with DownÕs syndrome. Annals of Thoracic Surgery, 52
(6), 1325-1328.

*Gakhal, B., Scott, C. S., & MacNab, A. J. (1998). Comparison of morphine
requirement for sedation in DownÕs syndrome and non-DownÕs syndrome patients
following paediatric cardiac surgery. Paediatric Anaesthesia. 8 (3), 229-233.

Kobel, M., Creighton, R. E., & Steward, D. J. (1982). Anaesthetic considerations
in DownÕs syndrome: Experience with 100 patients and a review of the literature.
Canadian Anaesthetists Society Journal, 29, 593-599.

*Litman, R. S., Zerngast, B. A., & Perkins, F. M. (1995). Preoperative
evaluation of the cervical spine in children with Trisomy-21: Results of a
questionnaire study. Paediatric Anaesthesia, 5, 335-361.

*Mitchell, V., Howard, R., & Facer, E. (1995). DownÕs syndrome and anaesthesia.
Paediatric Anaesthesia, 5, 379-384.

Williams, J. P., Somerville, G. M., Miner, M. E., et al. (1987). Atlanto-axial
subluxation and Trisomy 21: Another perioperative complication. Anesthesiology,
67, 253-4.

F. Audiology

Balkany, T. J., Downs, M. P., Jafek, B. W., et al. (1979). Hearing loss in
DownÕs syndrome. Clinical Pediatrics, 18 (2), 116-118.

Buchanan, L. H. (1990). Early onset of presbycusis in Down syndrome.
Scandinavian Audiology, 12 (2), 103-10.

Dahle, A. J., & McCollister, F. P. (1988). Hearing and otologic disorders in
children with Down syndrome. Journal of Mental Deficiency Research, 32, 333-336.

Diefendorf, A. O., Bull, M. J., Casey-Harvey, D., Miyamoto, R. T., Pope, M. L.,
Renshaw, J. J., Schreiner, R. L., & Wagner-Escobar, M. (1995). Down syndrome: A
multidisciplinary perspective. Journal of the American Academy of Audiology, 6
(1), 39-46.

Evenhuis, et al. (1992). Hearing loss in middle-age persons with Down syndrome.
American Journal of Mental Retardation, 97 (1), 47-56. Glass, R. B.,
Yousefzadeh, D. K., & Roizen, N. J. (1989). Mastoid abnormalities in Down
syndrome. Pediatric Radiology, 19 (5), 311-2.

*Hassmann, E., Skotnicka, B., Midro, A. T., & Musiastowicz, M. (1998).
Distortion products otoacoustic emissions in diagnosis of hearing loss in Down
syndrome. International Journal of Pediatric Otorhinolaryngology, 45 (3), 199-
206.

Roizen, N. J., Wolters, C., Nicol, T., & Blondis, T. (1992). Hearing loss in
children with Down syndrome. Pediatrics, 123, S9-12.

*Werner, L. A., Mancl, L. R., & Folsom, R. C. (1996). Preliminary observations
on the development of auditory sensitivity in infants with Down syndrome. Ear
and Hearing, 17 (6), 455-68.

G. Cardiology

Baciewicz, F. A., Jr., Melvin, W. S., Basilius, D., & Davis, J. T. (1989).
Congenital heart disease in DownÕs syndrome patients: A decade of surgical
experience. Thoracic & Cardiovascular Surgeon, 37 (6), 369-71.

Clapp, S. K., Perry, B. L., Farooki, Z. Q., et al. (1987). Surgical and medical
results of complete atrioventricular canal surgery: A ten year review. American
Journal of Cardiology, 59, 454-8.

*Freeman, S. B., Taft, L. F., Dooley, K. J., et al. (1998). Population-based
study of congenital heart defects in Down syndrome. American Journal of Medical
Genetics, 80 (3), 213-7.

Geggel, R. L., et al. (1993). Clinical and laboratory observations: Development
of valve dysfunction in adolescents and young adults with Down syndrome and no
known congenital heart disease. Journal of Pediatrics, 122 (5), 821-823.

Goldhaber, S. Z., Brown, W. D., & St. John Sutton, M. G. (1987). High frequency
of mitral valve prolapse and aortic regurgitation among asymptomatic adults with
DownÕs syndrome. Journal of the American Medical Association, 258, 1793-1795.

Marino, B., & Pueschel, S. M. (1996). Heart Disease in Persons with Down
Syndrome. Baltimore: Paul Brookes.

Martin, G. R., Rosenbaum, K. N., & Sardegna, K. M. (1989). Prevalence of heart
disease in Trisomy 21: An unbiased population. (Abstract) Pediatric Research,
25, 255A.

Morris, et al. (1992). Down syndrome affects results of surgical corrections of
complete atrioventricular canal. Pediatric Cardiology, 13 (2), 80-84.

Pueschel, S. M., & Werner, J. C. (1994). Mitral valve prolapse in persons with
Down syndrome. Research in Developmental Disabilities, 15 (2), 91-7.

*Reller, M. D., & Morris, C. D. (1998). Is Down syndrome a risk factor for poor
outcome after repair of congenital heart defects? Journal of Pediatrics, 132
(4), 738-741.

Rizzioli, et al. (1992). Does Down syndrome affect the results of surgically
managed atrioventricular canal defects. Journal of Thoracic and Cardiovascular
Surgery, 104, 945-953.

Rosenberg, H. C., Jung, J. H., Soltan, H. C., Li, M. D., & Sheridan, G. (1994).
Cardiac screening of children with DownÕs syndrome. Canadian Journal of
Cardiology, 10 (6), 675-7.

H. Communication

Chapman, et al. (1991). Language skills of children and adolescents with Down
syndrome: I. Comprehension. Journal of Speech and Hearing Research, 34, 1106-
1120.

Cooper, S. A., & Collacott, R. A. (1995). The effect of age on language in
people with DownÕs syndrome. Journal of Intellectual Disability Research, 39
(Part 3), 197-200.

Gibbs, E. D., Springer, A. S., Cooley, W. C., et al. (1990). Total communication
for children with Down syndrome (Abstract). Annual Convention. American Speech-
Language-Hearing Association. November.

Kumin, L. (1986). A survey of speech and language pathology services for Down
syndrome: State of the art. Applied Research in Mental Retardation, 7, 491-499.

Kumin, L., Councill, C., & Goodman, M. (1994). A longitudinal study of the
emergence of phonemes in children with Down syndrome. Journal of Communication
Disorders, 27 (4), 293-303.

Marcell, M. M., Ridgeway, M. M., Sewell, D. H., & Whelan, M. L. (1995). Sentence
imitation by adolescents and young adults with DownÕs syndrome and other
intellectual disabilities. Journal of Intellectual Disability Research, 39 (Part
3), 215-232.

Miller, J. (1987). Language and communication characteristics of children with
Down syndrome. In: Pueschel, S. M., et al. New Perspectives in Down Syndrome.
Baltimore, MD: Brookes Publishing.

*Miller, J. F., Leddy, M., & Leavitt, L. A., (Eds.). (1998). Improving the
Communication of People with Down Syndrome. Baltimore: Paul Brookes. Mundy, P.,
Kasari, C., Sigman, M., & Ruskin, E. (1995). Nonverbal communication and early
language acquisition in children with Down syndrome and in normally developing
children. Journal of Speech and Hearing Research, 38 (1), 157-67.

*Rondal, J. A. (1995). Exceptional Language Development in Down Syndrome:
Implications for the Cognition-Language Relationship. New York: Cambridge.

I. Dental

Barnett, M. L., Press, K. P., Friedman, D., et al. (1986). The prevalence of
periodontitis and dental caries in a DownÕs syndrome population. Journal of
Periodontology, 57 (5), 288-93.

Giannoni, M., Mazza, A. M., Botta, R., & Marci, T. (1989). Dental problems in
DownÕs syndrome. Overview and specific pathology. Dental Cadmos, 57 (12), 70-80.

Modeer, T., Barr, M., & Dahllof, G. (1990). Periodontal disease in children with
DownÕs syndrome. Scandinavian Journal of Dental Research, 98 (3), 228-34.

*Pilcher, E. S. (1998). Dental care for the patient with Down syndrome. Down
Syndrome Research and Practice, 5 (3), 111-116. Randell, et al. (1992).
Preventive dental health practices of non-institutionalized Down syndrome
children: A controlled study. Journal of Clinical Pediatric Dentistry, 16 (3),
225-229.

Vittek, J., Winik, S., Winik, A., Sioris, C., Tarangelo, A. M., & Chou, M.
(1994). Analysis of orthodontic anomalies in mentally retarded developmentally
disabled (MRDD) persons. Special Care in Dentistry, 14 (5), 198-202.

J. Development

Harris, S. R. (1980). Transdisciplinary therapy model for the infant with DownÕs
syndrome. Physical Therapy, 60, 420-23.

*Hines, S., & Bennett (1996). Effectiveness of early intervention for children
with Down syndrome. Mental Retardation and Developmental Disabilities Research
Reviews, 2 (2), 96-101. Rogers, M. J. (1990). Functional management of gross
motor development of children with Down syndrome. Developmental Medicine and
Child Neurology, 90, 32 (suppl. 62), 44-45.

*Wishart, J. G. (1998). Development of children with Down syndrome: Facts,
findings, the future. International Journal of Disability, Development, &
Education, 45 (3).

K. Ear, Nose and Throat/Sleep Apnea

Aboussouan, et al. (1993). Hypoplastic trachea in DownÕs syndrome. American
Review of Respiratory Disease, 147, 72-75.

*Bower, C. M., & Richomon, D. (1995). Tonsillectomy and adenoidectomy in
patients with Down syndrome. International Journal of Pediatric
Otorhinolaryngology, 33, 141-148.

*Goldstein, N. A., Armfield, D. R., Kingsley, L. A., Borland, L. M., et al.
(1998). Postoperative complications after tonsillecotomy and adenoidectomy in
children with Down syndrome. Archives of Otolaryngology - Head and Neck Surgery,
124 (2), 171-6.

Harley, E. H., & Collings, M. D. (1994). Neurological sequelae secondary to
atlantoaxial instability in Down syndrome. implications in otolaryn-gologic
surgery. Archives of Otolaryngology - Head and Neck Surgery, 120 (2), 159-65.

Kraus, E. M. (1996). Down syndrome and the otolaryngologist: Clinical
characteristics and recommendations for management. Chapter in Hotaling &
Stankiewicz, Pediatric Otolaryngology for the General Otolaryngologist. New
York:Igaku-Shoin..

*Levanon, A., Tarsiuk, A., & Tal, A. (1999). Sleep characteristics in children
with Down syndrome. Journal of Pediatrics, 134 (6), 755-760.

Marcus, C. L., Keens, T. G., et al. (1991). Obstructive sleep apnea in children
with Down syndrome. Pediatrics, 88 (1), 132-9.

Roizen, N. J., Martich, V., Ben-Ami, T., Shalowitz, M. U., & Yousefzadeh, D. K.
(1994). Sclerosis of the mastoid air cells as an indicator of undiagnosed otitis
media in children with DownÕs syndrome. Clinical Pediatrics, 33 (7), 439-43.

Pappas, D. G., Flexer, C., & Shackelford, L. (1994). Otological and habilitative
management of children with Down syndrome. Laryngoscope, 104 (9), 1065-70.

Southall, D. P., Stebbins, V. A., et al. (1987). Upper airway obstruction with
hypoxaemia and sleep disruption in Down syndrome. Developmental Medicine and
Child Neurology, 29, 734-742.

Stebbins, V. A., Dennis, J., et al. (1991). Sleep related upper airway
obstruction in a cohort with DownÕs syndrome. Archives of        Disease in
Childhood, 66 (11), 1333-8.

L. Education

Brown, L., Long, E., Udbari-Solner, A., et al. (1989). The home school: Why
students with severe intellectual disabilities must attend the schools of their
brothers, sisters, friends, and neighbors. Journal of the Association for
Persons with Severe Handicaps, 14 (1), 1-7.

Buswell, B. E., & Venerls, J. (1989). Building integration with the IEP.
Colorado Springs: PEAK Parent Center, Inc.

*Laws, G., Buckley, S., MacDonald, J., & Bird, G. (1995). The influence of
reading instruction on language and memory development in children with Down
syndrome. Down Syndrome Research and Practice, 3 (2), 59-64.

McDonnell, J. J., Wilcox, B., & Hardman, M. L. (1991). Secondary Programs for
Students with Developmental Dis-abilities. Boston: Allyn & Bacon, Inc.

Murray-Seegert, C. (1989). Nasty Girls, Thugs, and Humans Like Us: Social
Relations Between Severely Disabled and Nondisabled Students in High School.
Baltimore: Paul Brookes.

*Rondal, J. A., Perera, J., & Nadel, L. (Eds.). (1996). DownÕs Syndrome: Psycho-
logical, Psychobiological, and Socio-Educational Perspectives. New York:
Singular Pub Group.

Stainback, W., & Stainback, S. (1990). Support Networks for Inclusive Schooling.
Baltimore: Brookes.

Wilcox, B. (1991). School restructuring and the re-thinking of ÔSpecial
Education.Õ Down Syndrome News. National Down Syndrome Congress, June, 65-66.

M. Endocrinology

*Anneren, G., Tuvemo, T., Sava, V. R., et al. (1999). Growth hormone treatment
in young children with DownÕs syndrome: Effects on growth and psychomotor
development. Archives of Diseases in Childhood, 80, 334-338.

*Anwar, A. J., Walker, J. D., & Frier, B. M. (1998). Type 1 diabetes mellitus
and DownÕs syndrome: Prevalence management and diabetic compli-cations. Diabet
Med, 15 (2), 160-3.

Cutler, A. T., Benezra-Obeiter, R., & Brink, S. J. (1986). Thyroid function in
young children with Down syndrome. American Journal of Diseases of Childhood,
140, 479-483.

Fort, P., Lifshitz, F., et al. (1984). Abnormalities of thyroid functions in
infants with Down syndrome. Journal of Pediatrics, 104, 545-549.

*Karlsson, B., Gustafsson, J., Hedov, G., Ivarsson, S. A., & Anneren, G. (1998).
Thyroid dysfunction in DownÕs syndrome: Relation to age and thyroid
autoimmunity. Archives of Diseases in Childhood, 79 (3), 242-245.

Mitchell, C., Blachford, J., Carlyle, M. J., & Clarson, C. (1994).
Hypothyroidism in patients with Down syndrome. Archives of Pediatrics and
Adolescent Medicine, 148 (4), 441-2.

Pueschel, S. M. (1985). Thyroid dysfunction in Down syndrome. American Journal
of Diseases of Childhood, 139 (6), 636-39.

*Pueschel, S. M., Sustrova, & Kostalova, L. (1998). Hyperthyroidism in children
with Down syndrome. Down Syndrome Quarterly, 3 (2), 1-4.

Rubello, D., Pozzan, G. B., Casara, D., Girelli, M. E., Boccato, S., Rigon, F.,
Baccichetti, C., Piccolo, M., Betterle, C., & Busnardo, B. (1995). Natural
course of subclinical hypothyroidism in DownÕs syndrome: Prospective study
results and therapeutic considerations. Journal of Endo-crinological
Investigation, 18 (1), 35-40.

Selikowitz, M. (1993). A five-year longitudinal study of thyroid function in
children with Down syndrome. Developmental Medicine and Child Neurology, 35, 396-
401.

Stoll, C., Alembik, Y., Dott, B., & Finck, S. (1989). Anomalies in thyroid
function in children with Trisomy 21. Journal de Genetique Humaine, 37 (4-5),
389-93.

Zulke, C., Thies, U., Braulke, I., Reis, A., & Schirren, C. (1994). Down
syndrome and male fertility: PCR-derived fingerprinting, serological and andro-
logical investigations. Clinical Genetics, 46 (4), 324-6

N. Nutrition & Feeding/Gastrointestinal

*Carlsson, A., Aexlsson, I., Borulf, S., et al. (1998). Prevalence of IgA-
antigliadin and IgA-antiendomysium antibodies related to celiac disease in
children with Down syndrome. Pediatrics, 101 (2), 272-5.

*George, E. K., Mearin, M. L., Bouquet, J., et al. (1996). High frequency of
celiac disease in Down syndrome. Journal of Pediatrics, 128 (4), 555-557.

**Hopman, E., Csizmadia, C. G., Bastiani, W. F., et al. (1998). Eating habits of
young children with Down syndrome in the Netherlands: Adequate nutrient intakes
but delayed introduction of solid food. Journal of the American Dietetic
Association, 98 (7), 970-974. Knox, G. E., & Bensel, R. W. (1972).
Gastrointestinal malformations in DownÕs syndrome. Minnesota Medicine, 55, 542-
4.

**Luke, A., Roizen, N. J., Sutton, M., & Schoeller, D. A. (1994). Energy
expenditure in children with Down syndrome: Correcting metabolic rate for
movement. Journal of Pediatrics, 125 (5 Pt 1), 825-838.

*Medlen, J. (1999). From milk to table foods: A parentÕs guide to introducing
food textures. Disability Solutions, 3 (3), 1-9.

*Rubin, S. S., Rimmer, J. H., Chicoine, B., et al. (1998). Overweight prevalence
in persons with Down syndrome. Mental Retardation, 36 (3), 175-81. O. Genetics
and Prenatal Screening

*Bahado-Singh, R., Oz, U., Kovanci, E., et al. (1999). A high-sensitivity
alternative to ÒroutineÓ genetic amniocentesis; Multiple urinary analytes,
nuchal thickness, and age. American Journal of Obstetrics and Gynecology, 180
(1), 169-173.

*Bianchi, D. W. (1999). Fetal cells in the maternal circulation: Feasibility for
prenatal diagnosis. British Journal of Hematology, 105 (2), 574-83.

Cheng, et al. (1993). A prospective evaluation of a second-trimester screening
test for fetal Down syndrome using maternal serum alpha-fetoprotein, hCG, and
unconjugated estriol. Obstetrics and Gynecology, 81 (1), 72-77.

*Copel, J., & Bahado-Singh, R. O. (1999). Prenatal screening for DownÕs syndrome 
A search for the familyÕs values. (Editorial) New England Journal of Medicine,
341 (7), 521-522. Haddow, et al. (1992). Prenatal screening for DownÕs syndrome
with use of maternal serum markers. New England Journal of Medicine, 327 (9),
588-593.

*Helm, D. T., Miranda, S., & Chedd, N. A. (1998). Prenatal diagnosis of Down
syndrome: MothersÕ reflections on supports needed from diagnosis to birth.
Mental Retardation, 36 (1), 55-61.

Epstein, C. (Ed.). (1992). The Phenotypic Mapping of Down Syndrome and Other
Aneuploid Conditions. Proceedings of a National Down Syndrome Conference. New
York:Wiley-Liss.

Korenberg, J. R., Chen, X. N., Schipper, R., et al. (1994). Down syndrome
phenotypes: The consequences of chromosomal imbalance. Proceedings of the
National Academy of Sciences of the USA, 44 (6), 1039-45.

Palomaki, et al. (1993). Maternal serum screening for fetal Down syndrome in the
United States: A 1992 Survey. American Journal of Obstetrics and Gynecology, 169
(6), 1558-1562.

Patterson, D., & Epstein, C. (Eds.). (1989). Molecular Genetics of Chromosome 21
and Down Syndrome. Proceedings of the Sixth Annual National Down Syndrome
Society Symposium. New York:Wiley-Liss.

Pueschel, S. (1991). Ethical considerations relating to prenatal diagnosis of
fetuses with Down syndrome. Mental Retardation, 29 (4), 185-190.

Tseng, L. H., Chuang, S. M., Lee, T. Y., & Ko, T. M. (1994). Recurrent DownÕs
syndrome due to maternal ovarian Trisomy 21 mosaicism. Archives of Gynecology &
Obstetrics, 255 (4), 213-6.

*Wald, N. J., Watt, H. C., & Hackshaw, A. K (1999). Integrated screening for
DownÕs syndrome based on tests performed during the first and second trimesters.
New England Journal of Medicine, 341 (7), 461-467.

P. Growth

Cronk, C., Crocker, A. C., Pueschel, S. M., et al. (1988). Growth charts for
children with Down syndrome: 1 month to 18 years of age. Pediatrics, 81,102-110.

Palmer, et al. (1992). Head circumference of children with Down syndrome (0-36
months). American Journal of Medical Genetics, 42, 61-67. *See also, Section Z
ÒInternet Resources,Ó below, for URL for Growth Charts

Q. Gynecology

Bovicelli, L., Orsini, L. F., et al. (1982). Reproduction in Down syndrome.
Obstetrics and Gynecology, 59, 135-165.

Edwards, J. P. (1990). Sexuality, marriage, and parenting for persons with Down
syndrome. In: Pueschel, S. M. (Ed.). The Young Person with Down Syndrome, 187-
204. Baltimore: Paul Brookes.

Edwards, J. P., & Elkins, T. E. (1988). Just Between Us. Ednick Communications:
Portland, OR.

Elkins, T. E. (1987). Reproductive health concerns for the person with Down
syndrome. Journal of Pediatric Neurosciences, 3 (1), 28-36.

Elkins, T. E., Gafford, S., & Muram, D. (1986). A model clinic approach for
reproductive health concerns of the mentally handicapped. Obstetrics and
Gynecology, 68 (2), 185.

Elkins, T. E., McNeeley, D. G., Punch, M., et al. (1990). Reproductive health
concerns in Down syndrome. A report of eight cases. Journal of Reproductive
Medicine, 35 (7), 745-50.

Elkins, T. E., McNeeley, D. G., Rosen, D., et al. (1988). A clinical observation
of a program to accomplish pelvic exams in difficult-to-manage patients with
mental retardation. Adolescent Pediatric Gynecology, 1, 195-8.

Evans, A. I., & McKinlay, I. A. (1988). Sexual maturation in girls with severe
mental handicap. Child Care, Health and Development, 14, 59-69.

Goldstein, H., & Menarche, (1988). Menstruation, sexual relations and
contraception of adolescent females with Down syndrome. European Journal of
Obstetrics, Gynecology and Reproductive Biology, 27, 343-49.

Heaton. C. J. (1995). ÒProviding reproductive health services to persons with
Down syndrome and other mental retardation,Ó Caring for Individuals with Down
Syndrome and their Families. Report of the Third Ross Roundtable on Critical
Issues in Family Medicine, Columbus, Ohio: Ross Products Division, Abbott
Laboratories.

McNeeley, S. C., & Elkins, T. E. (1989). Gynecologic surgery and surgical
morbidity in mentally handicapped women. Obstetrics and Gynecology, 74, 155.

Rosen, D. A., Rosen, K. R., Elkins, T. E., et al. (1991). Outpatient sedation:
An essential addition to gynecologic care for persons with mental retardation.
American Journal of Obstetrics and Gynecology, 164 (3), 825-8.

R. Hematology/Oncology

*Kivivuori, S. M., Rajantie, J., & Siimes, M. A. (1996). Peripheral blood cell
counts in infants with DownÕs syndrome. Clinical Genetics, 49 (1), 15-19. Litz,
Ce, Davies, S., Brunning, R. D., et al. (1995). Acute leukemia and the transient
myeloproliferative disorder associated with Down syndrome: Morphologic,
immunophenotypic and cytogenetic manifestations. Leukemia, 9 (9), 1432-9.

Ribeiro, et al. (1993). Acute megakaryoblastic leukemia in children and
adolescents: A retrospective analysis of 24 cases. Leukemia-Lymphoma, 10 (4-5),
299-306.

Robinson, L. L., Nesbit, M. E., Sather, H. N., et al. (1988). Down syndrome and
acute leukemia. A 10 year retrospective survey from childrenÕs cancer study
group. Journal of Pediatrics, 81, 235-242.

*Roizen, N. J., & Amarose, A. P. (1993). Hematologic abnormalities of children
with Down syndrome American Journal of Medical Genetics, 46 (5), 510-2.

*Satge, D., Sommelte, D., Geneix, A., et al. (1998). A tumor profile of Down
syndrome. American Journal of Medical Genetics, 78 (3), 207-16. Watson, et al.
(1993). Trisomy 21 in childhood acute lymphoblastic leukemia: A pediatric
oncology group study (8602). Blood, 82 (10), 3098-3102.

Wong, K. Y., Jones, M. M., Srivastava, A. K., et al. (1988). Transient
myeloproliferative disorder and acute nonlymphoblastic leukemia in Down
syndrome. Journal of Pediatrics, 112, 18-22.

*Zipursky, A., Brown, E., Christensen, H., Sutherland, R., & Doyle, J. (1997).
Leukemia and/or myeloproliferative syndrome in neonates with Down syndrome.
Seminars in Perinatology, 21 (1), 97-101.

S. Immunology

Nespoli, et al. (1993). Immunological features of DownÕs syndrome: A review.
Journal of Intellectual Disability Research, 37, 543-551.

Ugazio, et al. (1990). Immunological features of Down syndrome: A review.
American Journal of Medical Genetics, 7 (supplement), 204-212.

T. Longevity, Mortality and Long-term outcome

Baird, P. A., & Sadovnik, A. D. (1987). Life expectancy in Down syndrome.
Journal of Pediatrics, 110, 849-54.

Carr, J. (1994). Long-term-outcome for people with Down syndrome. [Review]
Journal of Child Psychology & Psychiatry & Allied Disciplines, 34 (3), 425-39.

*Chicoine, B., & McGuire, D. (1997). Longevity of a woman with Down syndrome: A
case study. Mental Retardation, 34 (6), 477-9.

Thase, M. E. (1982). Longevity and mortality in DownÕs syndrome. Journal of
Mental Deficiency Research, 23, 177-192.

U. Neurology (See X. Psychiatry, Neurology, and Developmental Biology, below.)

V. Ophthalmology

Caputo, A. R., Wagner, R., Reynolds, R. D., et al. (1989). Down syndrome:
Clinical review of ocular features. Clinical Pediatrics, 28, 355-8.

Catalano, R. A., & Simon, J. W. (1990). Optic disc elevation in DownÕs syndrome.
American Journal of Ophthalmology, 110, 28-32.

Courage, M. L., Adams, R. J., Reyno, S., & Kwa, P. G. (1994). Visual acuity in
infants and children with Down syndrome. Developmental Medicine and Child
Neurology, 36 (7), 586-93.

*da Cunha, R. P., & Moreira, J. B. (1996). Ocular findings in DownÕs syndrome.
American Journal of Ophthalmology, 122 (2), 236-44.

*Davis, J. (1996). Ocular manifestations in Down syndrome. Pennsylvania
Medicine, 99 (Suppl), 67-70.

Perez-Carpinelli, J. de Fez, M.D., & Climent, V. (1994). Vision evaluation in
people with DownÕs syndrome. Ophthalmic and Physiological Optics, 14 (2), 115-
21.

Roizen, N. J., Mets, M. B., & Blondis, T. A. (1994). Ophthalmic disorders in
children with Down syndrome. Developmental Medicine and Child Neurology, 36 (7),
594-600.

Shapiro, M. B., & France, T. D. (1985). The ocular features of Down syndrome.
American Journal of Ophthalmology, 99, 659-63.

Wagner, R. S., Caputo, A. R., & Reynolds, R. D. (1990). Nystagmus in Down's
syndrome. Ophthalmology, 97 (11), 1439-44.

*Woodhouse, J. M., Pakeman, V. H., Saunder, K. J., et al. (1996). Visual acuity
and accommodation in infants and young children with DownÕs syndrome. Journal of
Intellectual Disability Research, 40 (Pt 1), 49-55.

W. Orthopedics & Atlanto-Axial Instability

American Academy of Pediatrics Committee on Sports Medicine and Fitness.
Atlantoaxial instability in Down syndrome: Subject review. (1995). Pediatrics,
96 (1 Part 1), 151-4.

*Cohen, W. I., (1998). Atlanto-axial instability. WhatÕs next? Archives of
Pediatric and Adolescent Medicine, 152 (2), 119-122. Davidson, R. G. (1988).
Atlantoaxial instability in individuals with Down syndrome: A fresh look at the
evidence. Pediatrics, 81 (6), 857-65. Diamond, L. S., Lynne, D., & Sigman, B.
(1981). Orthopedic disorders in patients with Down syndrome. Orthopedic Clinics
of North America, 12, 57-71.

*Ferguson, R. L., Putney, M. E., & Allen, B. L. (1997). Comparison of neurologic
deficits with atlanto-dens intervals in patients with Down syndrome. Journal of
Spinal Disorders, 10 (3), 246-52.

*Greene, W. B. (1998). Closed treatment of hip dislocation in Down syndrome.
Journal of Pediatric Orthopedics, 18 (5), 643-7. Mendez, A. A., Keret, D., &
MacEwen, G. D. (1999). Treatment of patellofemoral instability in DownÕs
syndrome. Clinical Orthopedics and Related Research, (234), 148-58.

Morton, R. E., Khan, M. A., Murray-Leslie, C., & Elliott, S. (1995).
Atlantoaxial instability in DownÕs syndrome: A five-year follow-up study.
Archives of Disease in Childhood, 72 (2), 115-8, discussion 118-9.

Msall, M. E., Reese, M. E., et al. (1990). Symptomatic atlantoaxial instability
associated with medical and rehabilitative procedures in children with Down
syndrome. Pediatrics, 85 (3 Pt 2), 447-9. National Down Syndrome Congress,
(1991). Atlanto-axial instability in persons with Down syndrome: Guidelines for
screening. Down Syndrome News. Park Ridge, IL, June, 61.

Parfenchuck, T. A., Betrand, S. L., Powers, M. J., Drvaric, D. M., Pueschel, S.
M., & Roberts, J. M. (1994). Posterior occipitoatlantal hypermobility in Down
syndrome: An analysis of 199 patients. Journal of Pediatric Orthopedics, 14 (3),
304-8.

Pueschel, S. M., & Scola, F. H. (1987). Atlanto-axial instability in individuals
with Down syndrome; Epidemiologic, radiographic, and clinical studies.
Pediatrics, 80, 555-560.

Pueschel, S. M., Scola, F. H., & Pezzullo, J. C. (1992). A longitudinal study of
atlanto-dens relationships in asymptomatic individuals with Down syndrome.
Pediatrics, 89 (6), 1194-1198.

Pueschel, S. M., et al. (1990). Skeletal anomalies of the upper cervical spine
in children with Down syndrome. Journal of Pediatric Orthopedics, 10, 607-611.

*Pueschel, S. M. (1998). Should children with Down syndrome be screened for
atlanto-axial instability? Archives of Pediatric and Adolescent Medicine, 152
(2), 123-125.

White, et al. (1993). Evaluation of the craniocervical junction in Down
syndrome: Correlation of measurements obtained with radiography and MR Imaging.
Radiology, 186, 377-382.

X. Psychiatry, Neurology, and Developmental Biology

Brugge, et al. (1994). Cognitive impairment in adults with Down syndrome.
Neurology, 44, 232-238.

*Burt, D. B., Loveland. K. A., Primeaux-Hart, S., et al. (1998). Dementia in
adults with Down syndrome: Diagnostic challenges. American Journal of Mental
Retardation, 103 (2), 130-45.

*Capone, G. (1999). Down syndrome. Current Management in Child Neurology, 191-
195.

*Chicoine, B., McGuire, D., & Rubin, S. (1998). Adults with Down syndrome:
Specialty clinic perspectives. In Janicki, M. P., & Dalton, A. J. (Eds.).
Dementia, Aging, and Intellectual Disabilities: A Handbook. New York:
Brunner/Mazel.

*Cohen, W. I., & Patterson, B. J. (1998). Neurodevelopmental disorders in Down
syndrome, in Hassold T, & Patterson D., Down Syndrome: A Promising Future,
Together. New York: Wiley-Liss.

Cooper, et al. (1993). Mania and Down syndrome. British Journal of Psychiatry,
162, 739-743.

Cooper, S. A., & Collacott, R. A. (1994). Clinical features and diagnostic
criteria of depression in DownÕs syndrome. British Journal of Psychiatry, 194,
165 (3), 399-403.

Craddock, N., & Owen, M. (1994). Is there an inverse relationship between DownÕs
syndrome and bipolar affective disorder? Literature review and genetic
implications. Journal of Intellectual Disability Research, 38(Pt 6), 613-20.

Cuskelly, et al. (1992). Behavioral problems in children with DownÕs syndrome
and their siblings. Journal of Child Psychology and Psychiatry, 33 (4), 749-761.

Dalton, A. J., & Crapper-McLachlan, D. R. (1986). Clinical expression of
AlzheimerÕs disease in Down syndrome. Psychiatric clinics of North America, 9,
659-70.

*Devenny, D. A., Silverman, W. P., Hill, A. L., et al. (1996). Normal aging in
adults with DownÕs syndrome: A longitudinal study. Journal of Intellectural
Disability Research, 40 (3), 208-221.

Evenhuis, H. M. (1990). The natural history of dementia in Down syndrome.
Archives of Neurology, 47, 263-7.

Franceschi, M., Comola, M., Piattoni, F., Gualandri, W., & Canal, N. (1990).
Prevalence of dementia in adult patients with Trisomy 21. American Journal of
Medical Genetics - Supplement, 7, 306-8.

*Gedye, A. (1998). Behavioral Diagnostic Guide for Developmental Disabilities.
Vancouver: Diagnostic Books.

*Gedye, A. (1998). Neuroleptic induced dementia documented in four adults with
mental retardation. Mental Retardation, 36 (3), 182-6. Ghaziuddin, et al.
(1992). Autism in DownÕs syndrome: Presentation and diagnosis. Journal of
Intellectual Disability Research, 36, 449-456.

Haveman, M. J., Maaskant, M. A, et al. (1994). Mental health problems in elderly
people with and without DownÕs syndrome. Journal of Intellectual Disability
Research, 38 (Pt 3), 341-55.

Howlin, P., Wing, L., & Gould, J. (1995). Recognition of autism in children with
Down syndrome - implications for intervention and some speculations about
pathology. Developmental Medicine and Child Neurology, 37 (5), 406-14.

Kesslak, J. P., Nagat, S. F., Lott, I., & Nalcioglu, O. (1994). Magnetic
resonance imaging analysis of age-related changes in the brains of individuals
with DownÕs syndrome. Neurology, 14 (3), 304-8.

*Kishnani, P. S. et al. (1999). Cholinergic therapy for DownÕs syndrome. Lancet,
353, 1064.

Lai, F., & Williams, R. S. (1989). A prospective study of Alzheimer disease in
Down syndrome. Archives of Neurology, 46 (8), 849-53. Lund, J., & Munk-
Jorgenson, P. (1988). Psychiatric aspects of Down syndrome. Acta Psychiatrica
Scandinavica, 78, 369-74.

*McGuire, D., Chicoine, B., & Greenbaum, B. (1997). ÒSelf-talkÓ in adults with
Down syndrome. Disability Solutions, 2 (2), 1-5.

Myers, B. A., Pueschel, S. M., (1991). Psychiatric Disorders in Persons with
Down Syndrome. Journal of Nervous and Mental Disease, 179 (10), 609-13.

Nadel, L., Epstein, C., (Eds.). (1992). Down Syndrome and Alzheimer Disease. New
York: Wiley-Liss.

Nelson, L., Lott, I., Touchette, P., Satz, P., & DÕElia, L. (1995). Detection of
Alzheimer disease in individuals with Down syndrome. American Journal of Mental
Retardation, 99 (6), 616-22.

*Oliver, C., Crayton, L., Holland, A., Hall, S., & Bradbury, J. (1998). A four
year prospective study of age-related cognitive change in adults with DownÕs
syndrome. Psychological Medicine, 28 (6), 1365-1377.

*Pary, R. J., Strauss, D., & White, J. F. (1996). A population survey of bipolar
disorder in persons with and without Down syndrome. Down Syndrome Quarterly, 1
(3), 1-4.

*Pary, R. J., Friedlander, R., & Capone, G. (1999). Bipolar disorder and Down
syndrome: Six cases. Mental Health Aspects of Developmental Disabilities, 2 (2),
59-63.

*Prasher, V. P., Chung, M. C., & Haque, M. S. (1998). Longitudinal changes in
adaptive behavior in adults with Down syndrome: Interim findings from a
longitudinal study. American Journal of Mental Retardation, 103 (1), 40-46.

Pueschel, S. M., Louis, S., & McKnight, P. (1991). Seizure disorders in Down
syndrome. Archives of Neurology, 48 (3), 318-20.

Strafstrom, C. E., Patxot, O. F., et al. (1991). Seizures in children with Down
syndrome; Etiology, characteristics, and outcome. Developmental Medicine and
Child Neurology, 33, 191-200.

Stafstrom, et al. (1993). Epilepsy in Down syndrome: Clinical aspects and
possible mechanisms. American Journal of Mental Retardation, supplement, 12-26.

Stafstrom, C. E., & Konkol, R. J. (1994). Infantile spasms in children with Down
syndrome. Developmental Medicine and Child Neurology, 36 (7), 576-85.

Wisniewski, K. E., Miezejeski, C. M., & Hill, A. L. (1988). Neurological and
psychological status of individuals with Down syndrome. In: Nadel L. (Ed.).
Psychobiology of Down Syndrome, 315-43. Cambridge: MIT Press.

*Van Dyke, D. C., Harper, D. C., & Dyken, M. E. (1998). AlzheimerÕs disease and
Down syndrome. Down Syndrome Quarterly, 3 (2), 1-11.

*Zigman, W. B., Schupf, N., Sersen, E., & Silverman, W. (1995). Prevalence of
dementia in adults with and without Down syndrome. American Journal of Mental
Retardation, 100 (4), 403-412.

*Y. Alternative Therapies

*Holmes, L. (1999). Concern about piracetam treatment for children with Down
syndrome. (Letter), Pediatrics, 103 (5), 1078-1079.

*Kemper, K. J., Cassileth, B., & Ferris, T., (1999). Holistic pediatricstc \l 2
ÒY. Alternative TherapiesÓ: A research agenda. Pediatrics, 103 (4 Pt 2), 902-9.

*Klaiman, P., Witzel, M. A., Margar-Bacal, F., & Munro, I. (1988). Changes in
aesthetic appearance and intelligibility of speech after partial glossectomy in
patients with Down syndrome. Plastic and Reconstructive Surgery, 82 (3), 403-
408.

*Lobaugh, N. J., et al. (1999). Piracetam does not enhance cognitive abilities
in moderate to high-functioning 7 to 13 year-old children with Down syndrome.
Presented at the PAS/SPR meeting in San Francisco CA, May 3, 1999. Abstract
reprinted by L. Leshin, M.D., and is available on the ÒDown Syndrome: Health
IssuesÓ web site at the following URL: www.ds-health.com/piract.html.

*Lynch, J., (1990). Tongue reduction surgery: Efficacy and relevance to the
profession. ASHA, (January), 59-61.

*Margar-Bacal, F., Witzel, M. A., & Munro, I. (1987). Speech intelligibility
after partial glossectomy in children with DownÕs 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.members.carol.net/~ndsc/

2. Journals
Down Syndrome Quarterly,  www.denison.edu/dsq  
Down Syndrome Research and Practice, www.downsnet.org/dsrp/issues_contents.asp  
Disability Solutions. www.disabilitysolutions.org

3. General Information
1999 Health Care Guidelines: www.denison.edu/dsq
Down Syndrome: Health Issues.  www.ds-health.com/
This is a comprehensive list of health information about DS, including lists of
DS Clinics in the US and abroad. You will find a listing of Current Ongoing
Research in Down syndrome from the US Public Health Service database. This award-
winning site, authored by Dr Len Leshin, has articles on common health concerns,
such as constipation and gastroesophageal reflux, as well as monthly abstracts
from the scientific literature.


Foot Notes

1The Down Syndrome Medical Interest Group (DSMIG) was founded in early
1994 with the express purpose of serving as a forum for professional addressing
aspects of medical care of persons with Down syndrome. Bonnie Patterson, M.D.
and William I. Cohen, M.D. serve as co-chairs. DSMIG wished to promote the
highest quality care for Children and adults with DS 1) by fostering and
provoding professional and community education; 2) by disseminating tools for
clinical care and professional support; such as these Health Guidelines; 3) and
by engaging in collaborative clinical research regarding issues related to the
care of individuals with Down syndrome. DSMIG schedules its meetings with a
variety of national organizations, such as the National Down Syndrome Congress
(NDSC), the National Down Syndrome Society (NDSS), the American Association of
Mental Retardation (AAMR), etc. For more information on DSMIG, contact William
I. Cohen, M.D. at Children's Hospital of Pittsburgh, 3705 Fifth Avenue,
Pittsburgh, PA 15213 (412-692-7693 or cohenb@chplink.chp.edu).

2American Academy of Pediatrics, Guidelines for Health Supervision III, Elk
Grove Village, IL, 1997.

3Recommended Childhood Immunization Schedule, United States, January-December,
1999. Approved by the Advisory Committee on Immunization Practices (ACIP), The
American Academy of Pediatrics (AAP), and the American Academy of Family
Physicians (AAFP).

4Available on the internet at <a
href="http://www.growthcharts.com">www.growthcharts.com</a>

5American Academy of Pediatrics Committee on Genetics, "Health Guidelines for
Children with Down Syndrome", Pediatrics, 1994; 93:855-859.

6Special thanks to the following individuals: Marilyn Bull, M.D. (Celiac disease
& Immunoglobulins); Kim McConnell, M.D. (Alternative Therapies); David Smith,
M.D. (Bibliography); Marilyn Bull, M.D. (Growth Hormone Position Statement);
Caryl Heaton, D.O. (Gynecology); Brian Chicoine, M.D. & David Smith, M.D. (Adult
Health Care); Allen Crocker, M.D., Golder Wilson, M.D. Ph.D., W. Carl Cooley,
M.D. and Francis hickey, M.D. & David Smith, M.D. (Flow Charts); Joan Medlen,
R.D. (Feeding/Nutrition) and Nancy Murray, M.S., Robert Pary, M.D. and Dennis
McGuire, Ph.D. (Psychiatry/Mental Health).