D S OWN YNDROME

CHAPTER 47
DOWN SYNDROME
WILLIAM I. COHEN, MD
Down syndrome (DS) is the most commonly occurring genetic disorder associated with mental retardation. Its physical characteristics are distinctive enough that health care providers who have early contact with the newborn— including obstetricians, delivery room and maternity nurses, and primary care physicians—can recognize the disorder relatively easily. This offers
the advantage of early identification and treatment of associated serious and potentially life-threatening congenital abnormalities. Nevertheless, families often struggle with the fact they have not had the developmentally typical child they expected.
Physicians should be mindful of the significant difference
in perspective between health professionals and educators
caring for children with DS and these children’s parents. As
health professionals, we are educated in a deficit or pathological model (discovering and defining what is wrong with
the child). Consequently, we often come in conflict with
parents who recognize the value and potential of their child,
celebrating their child’s achievements and abilities measured against his or her own previous attainment, rather
than against a community or general standard. This pride
in their child’s accomplishments has been augmented by
the conscious decision to include these children in the life
of the family and, more importantly, the community. In
response to the efforts of families, the educational community has begun to appreciate the value of integrated education in preparing young people with DS to live and work
in their communities. These changes have accelerated since
the closing of public residential institutions, which began
20 to 30 years ago. Previously, infants and babies were
removed from their homes and communities when wellintentioned individuals thought that raising a child with a
disability at home would be too burdensome. Recent experience has shown how well these children thrive when
raised in a personalized, loving environment.
Background
In 1865, the British physician John Langdon Down
described a group of individuals who were residents of the
Earlswood Asylum for Idiots in Surrey, England, where he
was superintendent. These individuals with mental retarCurrent Management in Child Neurology, Third Edition
© 2005 Bernard L. Maria, All Rights Reserved
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dation had a particular facial appearance and resembled
each other. Although they shared many characteristics in
common, the biologic basis for this disorder remained
unknown until 1959, when Jerome LeJeune determined
that all the individuals with these characteristics had a
third copy of chromosome 21. The phenotype of DS was
found, in 95% of individuals, to represent the genotype of
trisomy 21. Trisomies, in general, result from nondisjunction during the first meiotic division, and although they
can occur in either parent, 95% of the extra chromosome
21 are of maternal origin. There is a well-documented agerelated increase in nondisjunction, which has been
described as reflecting the loss of particular proteins that
play a role in the completion of meiosis I at the time of
ovulation. Trisomy 21 is a sporadic, noninheritable event.
Nevertheless, the empirically observed increased risk of
having another child with trisomy 21 is reported to be
1:100, or approximately 10 times the base rate of 1:800 to
1,000 live births.
Of babies with DS, 3 to 4% have a translocation (the
long arm of chromosome 21 is attached to either chromosome 14 or chromosome 21, resulting in 14/21 or 21/21
translocation). Although two-thirds of these translocations occur at the time of recombination in meiosis, onethird of these children will have inherited this translocated
chromosome from a parent. That parent is called a balanced carrier, because he or she has only two copies of
chromosome 21. It is recommended that parents of children with translocation DS have chromosomal studies to
be certain they are not carriers and at risk for having
another child with DS in a subsequent pregnancy.
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A small percentage of individuals with DS have
mosaicism. They have two different types of cells in their
bodies: some with the normal number of chromosomes,
some with an extra chromosome 21. It is usually thought
that children with subtle facial features or with cognitive
abilities close to or within the average range invariably
have the mosaic form of DS. This has been shown to be
incorrect. The degree of mental retardation and the presence or absence of congenital abnormalities or medical
problems is related to the specific tissues in the body that
contain the extra chromosome.
Diagnosis
The DS phenotype is varied but includes a commonly
occurring constellation of features. Hypotonia is most common and, along with characteristic facial features, often
suggests the diagnosis in the newborn period. In fact,
approximately 75% of all children with DS are identified by
6 months of age. Characteristic features include flat profile,
epicanthal folds, upslanting palpebral fissures, depressed
nasal bridge, brachycephaly (short anteroposterior measurement of the head), and short ears. Often, there is excess
neck skin (nuchal fat pad). In addition, there is often a variety of diagnostic clues in the extremities: clinodactyly
(shortened, curved fifth fingers), single palmar crease, wide
gap between the toes, and plantar crease (Table 47-1).
In any event, clinical suspicion of DS should lead to
determination of the karyotype. When a physician suspects
DS, parents often ask how certain they are of the diagnosis.
In fact, most physicians have a high degree of certainty in
the diagnosis when they order this test. However, it can be
useful to express some uncertainty: “I think it’s likely, but
we won’t know with certainty until we get the results back.”
Families tell us that the possibility of a normal result can be
helpful when waiting to find out if the child has DS. It
allows them to begin to get used to the idea.
After establishing the diagnosis of DS, the responsible
physician has several other important duties: referral to
genetics services, medical diagnostic services, developmental services, and family support.
TABLE 47-1. Diagnostic Features of Down Syndrome
Feature
Upslanting palpebral fissures
Wide gap between the toes
Nuchal fat pad
Depressed nasal bridge
Brushfield’s spots
Brachycephaly
Epicanthal folds
Clinodactyly
Single palmar crease
Percentage of Incidence (%)
98
95
87
83
75
75
60
50
50
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BC Decker Inc
Genetics
A consultation with a medical geneticist or genetics counselor can provide important information about the origin
of DS (ie, the nature of nondisjunction) and the risk of
having a subsequent child with DS. This is especially
important for the child with translocation DS.
Medical Diagnostic Services
Babies with DS have an increased risk for various congenital malformations and appropriate diagnostic evaluations
are warranted. Congenital cardiovascular abnormalities
occur in approximately 50% of infants with DS, and the
high frequency of atrioventricular septal defects, which
frequently present without cardiac findings or symptoms,
warrants a complete cardiologic evaluation. The high incidence of these abnormalities has led to the availability of
screening echocardiography in some tertiary-care centers.
DS is associated with a risk of hearing loss (sensorineural
as well as conductive), and all infants should be evaluated
with an objective measure of hearing, such as an auditory
brainstem response test or transient evoked otoacoustic
emission test as soon as the diagnosis is made. In hospitals
that have instituted universal newborn hearing screening,
the primary physician may often get the results of the
screen at the same time the diagnosis of DS is considered.
On the other hand, these screenings missed 14% of all
infants (2003 data) and, therefore, the primary physician
must be vigilant to be sure this test is performed.
Gastrointestinal abnormalities occur more frequently in
children with DS, and some of them, such as duodenal
atresia and imperforate anus, are difficult to miss. On the
other hand, Hirschsprung’s disease may present more subtly. An awareness of the increased frequency of this condition will lead to earlier diagnosis, which can be lifesaving.
Hypothyroidism, both congenital and acquired, is a significant source of developmental morbidity for children
with DS.
Infants with DS have increased medical vulnerability in
a number of areas, and physicians and families should
monitor for these issues. For example, low muscle tone
and poor coordination of suck and swallow can lead to
feeding difficulties. Such difficulties warrant a referral to a
feeding specialist, such as an occupational therapist or
speech-language pathologist with expertise in treating
oral-motor problems. Feeding difficulties may be further
compounded by gastroesophageal reflux disease.
Developmental Services
All children with DS are eligible for early intervention
(infant stimulation) services, which are provided for
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children from birth to 3 years of age by federally funded
programs that are administered locally. (There are no outof-pocket costs to the family, and the services are provided
in the family home.) Children are initially assessed and
then receive various services appropriate to their ages and
needs. These services include those of a developmental
specialist and may include, at various times, physical,
speech-language, and occupational therapies.
Family Support
Primary-care physicians aid parents by becoming knowledgeable about the kinds of family support available in
the local community. Organizations such as Parent-toParent or the local Association for Retarded Citizens can
provide information about support groups or one-to-one
meetings with parents of children with similar medical
and developmental problems. Most parents report that
their contact with other families who have experienced
similar problems is most useful in developing coping
strategies. Your community may have a regional DS organization, affiliated with one of the national DS groups (see
Practitioner and Patient Resources.)
Medical Vulnerability
Otolaryngologic Problems
Ears, nose, and throat (ENT) problems are common in
children with DS. Because of the characteristic midfacial
hypoplasia, manifested as narrow airways, eustachian
tubes, sinus ostia, and external auditory canals, children
with DS are at increased risk for recurrent otitis media,
nasopharyngitis or sinusitis, and the consequences of
serous otitis media. This is of particular significance, given
the well-known difficulties in expressive language development in children with DS. The medical team caring for
the child must ensure his or her hearing is optimized to
avoid the undesirable consequence of suboptimal language
development. Children with DS have frequent episodes of
croup, and this may reflect silent reflux causing upper airway irritation. These children may require laryngobronchoscopy to make the diagnosis.
There is growing evidence of a wide variety of sleep
abnormalities in children and adults with DS, and clinicians should consider an evaluation by a sleep center if
symptoms are present. Anatomic features contribute to an
increased incidence of obstructive sleep apnea. Even normally sized tonsils and adenoids may lead to relative
obstruction, and adenoidectomy or tonsillectomy may be
indicated in the presence of obvious symptoms. However,
children with DS often are restless sleepers, awakening or
at least arousing several times during the night. Some
Current Management in Child Neurology, Third Edition
© 2005 Bernard L. Maria, All Rights Reserved
BC Decker Inc
youngsters sleep sitting up and leaning forward. It is
unclear whether this represents undetected airway obstruction without apnea (related to the collapse of the airway
and the arousal of the child in response) or a separate,
central phenomenon. In addition, the base of the tongue
may fall backward and play a role in airway obstruction.
Recently, radiofrequency ablation has been used to treat
this condition.
Ophthalmologic Conditions
Children with DS have an increased risk of cataracts. All
infants should be evaluated at birth to detect the presence of
dense congenital cataracts, which need to be removed
immediately to prevent visual loss. The midfacial hypoplasia, described above, often leads to nasolacrimal duct stenosis. This can be treated conservatively, although surgical
intervention is occasionally required. An increased incidence
of refractive errors in children with DS and strabismus is
common. Adolescents and adults are at risk for keratoconus.
Endocrine Abnormalities
The most common endocrine disorder for individuals with
DS is hypothyroidism. This starts with the small but significantly increased risk of congenital hypothyroidism,
which is 27 times more likely than in an infant without DS.
In childhood and adolescence, hypothyroidism occurs frequently. A recently published longitudinal study from
Sweden found that 35% of the patients followed monitored this disorder, one-half before the age of 8 years
(Karlsson et al, 1998). After age 8 years, autoimmune thyroiditis is common. Yearly screening (thyroid-stimulating
hormone [TSH] and free T4) is recommended to detect
this condition, which may easily go unrecognized.
Hematologic Problems
DS is the most common factor predisposing to childhood
leukemia: approximately 1% of children with DS develop
one of four kinds of this disorder. This is 10 to 20 times the
frequency observed in typically developing children (Lange,
2000). Ten percent of infants present with a transient myeloproliferative disorder in the newborn period (leukemoid
reaction), which is characterized by a high white blood count
and circulating megakaryoblasts. Most of these children
recover without problems, although 25% will develop frank
leukemia by age 4 years. Most children under 4 years of age
who have DS develop nonlymphocytic leukemias, which
appear to be extremely responsive to chemotherapy. In one
series of 33 patients, all achieved a complete remission, and
the group had an 80% estimated 8-year survival rate.
Gastroenterology
Celiac disease is reported to occur in 7 to 14% of individuals with DS. In addition to the usual symptoms of bloat-
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ing, diarrhea, and failure to thrive, children with DS may be
asymptomatic, have constipation, or present with behavioral abnormalities. Periodic screening is recommended
starting at 2 to 3 years of age, looking especially for
immunoglobulin A (IgA) antiendomysial antibodies or elevated tissue transglutaminase levels. Serum IgA levels must
be determined concurrently to appropriately interpret these
screening tests. Currently, repeat screenings are suggested
every 2 years. Recent genetics studies have linked celiac disease in DS to specific HLA-DQ alleles. One study suggests
a two-stage screening, which would eliminate 70% of those
who do not carry these alleles, and then rescreening the
remaining 30% every 2 to 3 years (Czismadia et al, 2000).
Gastroesophageal reflux occurs commonly in babies with
DS, especially those with cardiac disease. The primary
physician should be mindful for occult reflux and aspiration, which may present as croup or recurrent pneumonia.
subject to manipulation of the neck (Cohen, 1998). This
has led to the recommendation of universal precautions in
administering anesthesia to children with DS, especially for
ENT procedures. The presence of signs or symptoms warrants further neuroradiologic evaluation (magnetic resonance imaging). Symptomatic individuals must be referred
for neurosurgical evaluation and treatment, which consists of fusion of C1 and C2.
Current recommendations for screening include lateral
cervical spine films (flexion, extension, and neutral) and
measurement of the neural canal width between 3 and
5 years of age. (The neural canal width should be > 14 mm.)
Participants in Special Olympics may need to have more
frequent studies. It should be noted that adults with DS are
at greater risk for cervical spine abnormalities, as a result
of anatomic predisposition as well as the early onset of
arthritic changes.
Autoimmune Disorders
Neurologic Disorders
The increased incidence of autoimmune disorders leads to
a higher incidence of both hypo- and hyperthyroidism
(2% in a Swedish longitudinal study), celiac disease,
juvenile-onset diabetes mellitus, juvenile rheumatoid
arthritis, and alopecia areata.
Musculoskeletal Disorders
Ligamentous laxity is a common finding in children with DS.
These children exhibit hypotonia and appear floppy and flexible. It is quite rare to see congenitally dislocated hips in children with DS, although hip problems do occur in adolescence. Adolescents also are prone to patellar dislocation.
The most potentially serious problems caused by ligamentous laxity are related to the occiput and cervical spine.
Laxity of the transverse ligaments can lead to excessive
movement of C1 and C2. A small percentage of individuals with DS (estimated at 2%) will develop spinal cord
compression from this excess movement. Approximately
13% of individuals with DS have > 4.5 mm distance
between the atlas and the dens on lateral cervical spine
radiographs when comparing full flexion and full extension. These individuals have been described as having
“atlantoaxial instability” (AAI) and have been, in the past,
considered at risk for the development of spinal cord compression. The belief that AAI was an asymptomatic precursor of cord compression, as well as the desire to prevent
any possible injury, led to the recommendation that all
individuals participating in Special Olympics have such
studies performed. However, recent reviews of the literature have suggested that such screening may not be necessary and that individuals who are at risk for such spinal
cord catastrophes either have symptoms or signs, such as
neck pain, gait disturbance, bladder or bowel problems, or
hyperreflexia and abnormal Babinski’s sign, or have been
Current Management in Child Neurology, Third Edition
© 2005 Bernard L. Maria, All Rights Reserved
BC Decker Inc
Epilepsy
Although seizures occur more frequently in individuals
with mental retardation than in the typical population,
the frequency of seizures in individuals with DS ranges
from 5 to 10%. One-half these seizures can be attributed
to an underlying medical problem (such as cardiovascular
disease, infection, trauma, perinatal problems, or, more
rarely, moyamoya disease). Consequently, a full investigation is warranted. The other 50% are idiopathic. A recent
retrospective study of 350 Israeli children and adolescents
with DS (performed between 1985 and 1997) showed that
8% had epileptic seizures, 47% had partial seizures, 32%
had infantile spasms, and 21% had generalized tonicclonic seizures. In this group, neurodevelopmental outcome of children with infantile spasms was poor, in spite
of adequate seizure control (Goldberg-Stern et al, 2001). In
other series, however, timely recognition of this disorder,
along with rapid institution of treatment, correlated with
better outcomes. Those who had a delay in beginning treatment and who had a long time until the spasms stopped
had a lower developmental quotient and a higher incidence of autistic features (Eisermann et al, 2003).
Vigabatrin, which is not currently available in the United
States, has been associated with rapid cessation of spasms.
Autistic Disorders
These disorders are more prevalent in children and adults
with DS. Whereas the incidence of autism in the general
population is reported at 15 per 10,000 population, current
evidence suggests that the prevalence in DS is approximately 5 to 10%. In addition to an early onset of symptoms, children with DS seem more likely to develop the socalled disintegrative form of autism, in which a child with
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adequate development of cognitive, language, and adaptive
skills undergoes a dramatic regression with the emergence
of typical autistic features. These children warrant a full
investigation and should be considered for prolonged
video electroencephalographic evaluation.
Attention-Deficit Hyperactivity Disorder
This common neuropsychiatric disorder occurs more frequently in children with DS (and mental retardation in
general) than in typically developing children. However,
these children respond well to current medical management with stimulant therapy. The standardized rating
scales are reliable when used with children with DS.
Alzheimer’s Disease (AD)
Parents of newborn babies with DS have often heard about
the association of DS with Alzheimer’s disease (AD), and
although this is not a condition that appears in childhood,
the question of the likelihood of it developing later may well
arise. DS has been associated with premature aging. This has
manifested in various ways, for example, early onset of presbyacusis (age-related hearing decline) and changes in skin
tone (early wrinkling). A number of studies of institutionalized adults with DS had suggested a very high degree of
dementia. Neuropathologic study of these individuals
revealed the typical findings of neurofibrillary plaques and
neuritic tangles, consistent with AD. The presence of the
gene that codes for amyloid precursor protein (APP) on
chromosome 21 lent further credence to the anticipation
that three copies of this gene lead to an excess of APP and,
therefore, AD. However, careful study of this issue has
revealed that the incidence of true AD is much lower. The
presence of these findings in the brain has not inevitably correlated with symptoms of AD. One of the greatest sources of
confusion has been the uncritical attribution of a change in
behavior to dementia. Many conditions, most of which are
treatable, lead to behavior change in individuals with DS.
The most common is depression, either endogenous or
exogenous. Undetected hypothyroidism also can lead to
depressive symptoms. Furthermore, care must be taken to
distinguish normal, age-related decline in function from
that seen in individuals with dementia. In a series of 148
adult patients referred to the Adult Down Syndrome Clinic
at Lutheran General Hospital in Chicago to evaluate decline
in function, only 11 of 148 met the criteria for progressive
and nonreversible decline and deterioration and would,
therefore, merit the diagnosis of AD (Chicoine et al, 1999).
Complementary and Alternative
Therapies
Many parents learn about a variety of complementary and
alternative therapies for children with DS, sometimes from
Current Management in Child Neurology, Third Edition
© 2005 Bernard L. Maria, All Rights Reserved
BC Decker Inc
other parents, often through the Internet. These include
nutritional interventions (such as multivitamin, mineral,
and amino acid combinations) that are purported to
enhance learning, improve muscle tone, and decrease medical complications. In addition, some parents may pursue
chiropractic treatment, neural enhancers, facial plastic
surgery, and other interventions they hope will improve the
lives of their children. Attempts to scientifically document
the benefits claimed have been unsuccessful. (More information about this topic is available at <http://www.dshealth.com>.) The great interest in these treatments reflects
parental hopes that their child might be spared the consequences of the cognitive disabilities so often associated with
DS. Cooley has provided a compassionate guide for discussing these issues with parents.
Developmental and Educational Issues
DS is associated with mild to moderate mental retardation.
A number of individuals are more capable, functioning in
the normal range of cognitive abilities. Whereas most
adults with DS require some supervision in their living
and work environments, a small but increasing number of
young adults live independently. Many of them are
employed as self-advocates for themselves and others with
developmental disabilities.
Speech and Language Needs
An important part of the developmental profile of individuals with DS is the greater delay in expressive language
function than in cognitive abilities and receptive language.
“When will my child start talking?” is the most common
question asked by parents of young children. The problem
appears to relate to difficulty in phonologic mapping.
Speech-language clinicians encourage the use of total communication with young children with DS, including instruction in sign language, as a bridge to effective communication
while working on verbal communication as well. Children
with DS have strong visual skills, and this has been used to
teach reading, which, in turn, has improved language skills.
Unlike other conditions with language disabilities, adolescents and adults with DS can continue to develop verbal language, and they should be afforded the opportunity to
receive appropriate services in this area. For those individuals who do not develop functional expressive language,
augmentative communication devices are indicated.
Education
The Individuals with Disabilities Education Act (IDEA) is
a federal law that provides funds for special education for
individuals with disabilities. In addition to funding early
interventions services for children from birth to 3 years of
age, IDEA mandates that the educational system (local
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school district) take responsibility for providing for the
developmental and educational needs of the child through
his or her 21st birthday. Many children enter preschool
programs for children with developmental disabilities
where the same types of services provided by the early
intervention system in the home are available. Some parents also enroll their children in preschool programs for
typically developing children, recognizing the benefit of
exposure to typically developing children.
Traditionally, most children with special needs have
been served in categorical programs and segregated environments. Children who were not successful in regular
classroom situations were often pulled out for services,
which were delivered in resource rooms for children or
self-contained classes for children with learning disabilities
or mental retardation. Recently, families have become
aware of the value of educating their children alongside
peers, in so-called “inclusive” settings. The services that
the child may need are then provided in the regular classroom. These practices have several advantages. They help
the child to generalize information across settings and they
allow educators to incorporate physical therapy, occupational therapy, and speech-language strategies throughout
the school day.
One warning: inclusive education should be a choice
that parents make. Well-intentioned friends, educators, or
physicians should not impose this on the family, because
in education, as in the rest of life, “one size does not fit all.”
Parents should be aware of all methods of educating children with special needs and should have the option of
choosing the program in their school district that best
meets their child’s needs.
Health Care Guidelines
The frequency of detectable and preventable medical conditions has led to the development of various screening
protocols for infants, children, and adults with DS.
“Health Care Guidelines for Individuals with Down
Syndrome” is currently available in a 1999 revision. It lists
recommended laboratory tests and medical consultations
by age. The current version was compiled by the Down
Syndrome Medical Interest Group (United States) and
developed in conjunction with the Committee on
Genetics of the American Academy of Pediatrics, whose
most recent revision of “Health Guidelines for Children
with Down Syndrome” was published in Pediatrics in
2001. Although not identical, these documents are in general agreement. (Note: These protocols are designed to
supplement, not replace, the standard well-child care protocols of the American Academy of Pediatrics and the
American Academy of Family Physicians.) An updated
version is expected in early 2005.
Current Management in Child Neurology, Third Edition
© 2005 Bernard L. Maria, All Rights Reserved
BC Decker Inc
What follows is a brief summary of screenings and consultations recommended for the optimal care of the child
with DS:
Birth
• Cardiac evaluation (should include echocardiogram)
• Objective hearing evaluation (auditory brainstem
response test)
• Ophthalmoscopic exam to detect dense congenital
cataracts
• Thyroid function testing (check state-mandated
screening)
• Referral for early intervention
• Discussion regarding availability of family support
• Medical genetics consultation, as indicated, regarding
discussion of future risk in subsequent pregnancies.
The parents of any child with translocation genotype
must have a karyotype to be certain they are not balanced carriers.
First year of life
• Periodic hearing evaluation (every 6 months) until pure
tone audiograms can be performed, then yearly.
• Eye examination by pediatric vision specialist by 6
months
• Thyroid function testing (TSH and free T4) at 6 and 12
months
Ages 1 to 12 years
•
•
•
•
Continued periodic hearing evaluations
Continued eye examinations
Yearly thyroid function testing
Screening for celiac disease (beginning at 2 to 3 years of
age), repeated every 2 years
• Lateral cervical spine radiography (flexion, neutral, and
extension), measuring the atlanto-dens interval and the
neural canal width, between 3 to 5 years of age, looking
for atlantoaxial instability
Adolescence
• Continued yearly thyroid function testing
• Continued periodic vision and hearing assessment
• Adolescent medicine consultation regarding sexual
health concerns
• Educational programming with a focus on transition
planning
Families currently obtain large amounts of information
about DS from a variety of sources. Shortly after the birth
of the baby (or after prenatal diagnosis), community-based
parent groups (often in partnership with clinical programs
providing consultative medical care to individuals with DS)
can provide the family with extensive information about
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DS. Examples of materials provided include books on health
and development, videos describing typical reactions to the
unexpected birth of a baby with DS, information regarding
parent support meetings, pamphlets on breastfeeding, and
information on accessing developmental services. The
Internet is often accessed as a source of information about
DS, though the reliability of that information can vary. The
primary care physician should anticipate that the family will
be knowledgeable and often is looking to partner and collaborate with the physician. When based on trust and
mutual respect, this collaboration can provide enormous
satisfaction to all, focusing on optimal medical, developmental, and emotional outcomes.
Suggested Readings
Chicoine B, McGuire D, Rubin S. Adults with Down syndrome:
specialty clinic perspectives. In: Janicki MP, Dalton AJ, editors. Dementia, aging and intellectual disabilities: a handbook. Portland (OR): Taylor and Francis; 1999.
Cohen WI. Atlantoaxial instability. What’s next? Arch Pediatr
Adolesc Med 1998;152:119–22.
Lange B. The management of neoplastic disorders of
haematopoiesis in children with Down’s syndrome. Br J
Haematol 2000;110:512–24.
Pueschel SM, Pueschel JK. Biomedical concerns in persons with
Down syndrome. Baltimore (MD): Paul Brookes; 1992.
Practitioner and Patient Resources
Stray-Gundersen K. Babies with Down syndrome. 2nd ed.
Bethesda (MD): Woodbine House; 1995.
Van Dyke DC, Mattheis P, Eberly SS, et al, editors. Medical and
surgical care for children with Down syndrome: a guide for parents. Bethesda (MD): Woodbine House; 1995.
Down Syndrome: Health Issues
http://www.ds-health.com
This is the most comprehensive DS site on the Internet.
Developed by Dr Len Leshin, a pediatrician who has a son with
DS, it features a comprehensive listing of medical, scientific, and
practical information about DS, as well as DS organizations and
clinics worldwide. It lists contact information for many local and
state or provincial parent groups providing family support.
Cohen WI, editor. Health care guidelines for individuals with
Down syndrome: 1999 revision. Down Syndrome Quarterly
1999;4:1–15.
Down Syndrome Quarterly
http://www.denison.edu./dsq
Cooley WC. Nonconventional therapies for Down syndrome: a
review and framework for decision making. In: Cohen WI,
Nadel L, Madnick ME, eds. Down syndrome: visions for the
21st century. New York: Wiley-Liss; 2002.
Down Syndrome Quarterly is an interdisciplinary journal devoted
to advancing the state of knowledge on DS and covers all areas
of medical, behavioral, and social scientific research. The 1999
“Health Care Guidelines for Individuals with Down Syndrome”
are available online at <http://www.denison.edu/collaborations/dsq/health99.html>
Csizmadia CG, Mearin ML, Oren A, et al. Accuracy and costeffectiveness of a new strategy to screen for celiac disease in
children with Down syndrome. J Pediatr 2000;137:756–61.
Eisermann MM, DeLaRaillere A, Dellatolas G, et al. Infantile
spasms in Down syndrome—effects of delayed anticonvulsive treatment. Epilepsy Res 2003;55:21–7.
Goldberg-Stern H, Strawsburg RH, Patterson B, et al. Seizure frequency and characteristics in children with Down syndrome.
Brain Dev 2001;23:375–8.
Karlsson B, Gustafsson J, Hedov G, et al. Thyroid dysfunction in
Down’s syndrome: relation to age and thyroid autoimmunity.
Arch Dis Child 1998;79:242–5.
Current Management in Child Neurology, Third Edition
© 2005 Bernard L. Maria, All Rights Reserved
BC Decker Inc
National Down Syndrome Society
http://www.ndss.org
The mission of the National Down Syndrome Society is to benefit people with DS and their families through national leadership
in education, research, and advocacy.
National Down Syndrome Congress (NDSC)
http://www.ndsccenter.org
The purpose of the NDSC is to promote the interests of persons
with DS and their families through advocacy, public awareness,
and information dissemination on all aspects of DS.
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