DOWN SYNDROME A REVIEW FOR DENTAL PROFESSIONALS

SOUTHERN ASSOCIATION OF INSTITUTIONAL DENTISTS — Self-Study Course Module 3
DOWN SYNDROME
A REVIEW FOR DENTAL PROFESSIONALS
Purpose of this Module
The information presented in this module is intended to provide the institutional dental staff with an in depth
review of the medical and dental implications of Down Syndrome and suggestions for future treatment and
preventive regimens based upon this detailed knowledge.
Learning Objectives
After reviewing the enclosed information the participant shall be able to:
1. Describe the three genotypes of Down Syndrome.
2. Discuss the incidence of Down Syndrome, particularly related to maternal age.
3. Discuss the relationship of Down Syndrome to Alzheimer Disorder and the problem of atlanto-axial
instability.
4. Describe the characteristics of mid-face dysplasia common to individuals with Down Syndrome.
5. Discuss the issues and impact of congenital cardiopathies common to persons with Down Syndrome.
6. List and discuss three additional medical conditions common to persons with Down Syndrome.
7. Discuss in detail, the periodontal and oral hygiene issues involved with Down Syndrome.
8. Describe the malocclusion problems common to Down Syndrome.
9. Describe the effects of partial glossectomies, adenotonsillectomies and cosmetic surgery on persons with
Down Syndrome.
10.
Describe six treatment approaches to the periodontal problems associated with Down Syndrome.
11.
Describe the impact of cardiopathies and upper respiratory infections on the treatment of persons with
Down Syndrome.
12.
Discuss the issues impacting prosthetic services for individuals with Down Syndrome.
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SOUTHERN ASSOCIATION OF INSTITUTIONAL DENTISTS — Self-Study Course Module 3
DOWN SYNDROME
A REVIEW FOR DENTAL PROFESSIONALS
INTRODUCTION
chromosomes (usually #14, thus referred to as a
14/21 translocation). These individuals have the
The institutional dental staff will encounter pa-
normal complement of 46 chromosomes.
tients with Down Syndrome on a daily basis. There-
(3) Mosaicism (1%): Nondisjunction occurs at a
fore, appropriate that the staff be familiar with the
later stage of cell division, therefore, some cells
medical and dental implications of this condition.
have the normal complement of 46 chromosomes
Although generalizations are helpful to better under-
and other cells 47 chromosomes (with an extra 21
stand the impact of Down Syndrome on the provision
chromosome).
of dental care, it is important to also be aware of the
wide variance in expression of the various aspects of
this genetic syndrome within individuals.
INCIDENCE AND ASSOCIATION
WITH MENTAL RETARDATION
DEFINITION AND ETIOLOGY
The incidence of Down Syndrome for all ages is
Down Syndrome, Trisomy 21 or Mongolism, was
one in 700 live births and increases with the age of
first described by Dr. Langdon Down in 1865. At
the mother: age 20 (1 in 2300) age 34-39 (1 in 280)
that time, the diagnosis of the syndrome was based
age 40-44 (1 in 130) age 46 (1 in 65) and age 54 (1 in
solely on physical findings. Surprisingly, it was only
54). Although there are some persons with Down
in 1956 that the normal complement of 46 human
Syndrome with an IQ above 69, nearly all persons
chromosomes was determined and it was not until
with this condition are mentally retarded. All ranges
1959 that it was demonstrated that Down Syndrome
of mental retardation (MR) can occur but most typi-
was associated with an extra chromosome of the
cal is moderate/severe retardation (IQ 20-50).
twenty first group, for a total of 47 chromosomes.
Note, the number and structure of chromosomes
FACIAL CHARACTERISTICS
within an individual cell is referred to as the karyo-
type of a cell. The term mongolism, mongoloid or
Midface dysplasia is a cardinal characteristic of
mongoloid idiot are outdated and stigmatizing terms
persons with Down Syndrome (DS). Nose
and should not be used to describe persons with this
malformations including a flat broad bridge of the
condition.
nose has been reported in 59-78% of these individu-
The etiology of Down Syndrome relates to the
als. Ear malformations, including "lop" ears, low-set
problem of nondisjunction of a 21 chromosome
ears and ears with a flat or absent helix have been
during oogenesis, thus an extra 21 chromosome is
reported in 54%. Eye malformations are common.
provided to the offspring by the mother. Recent
Epicanthal folds with slanting almond-shaped eyes
studies also implicate paternal etiology through
(narrow palpebral tissue slanting toward the mid-
nondisjunction during spermatogenesis.
line), which was responsible for the term mongoloid,
There are three types of Down Syndrome,
are reported in 78%. Strabismus (cross eyes) is re-
although it is generally thought that there is no clini-
ported in 14-54% and nystagmus (constant involun-
cal difference in the three genotypes.
tary cyclical movement of the eyeballs) and refrac-
(1) Trisomy 21 (94%): The extra 21 chromosome
tive errors are also common. The majority of persons
(three instead of the usual two) produces a com-
with Down Syndrome exhibit brachycephaly (broad,
plement of 47 chromosomes. Trisomy 21 may
short head) and lack of supraorbital ridges and
also be referred to as Trisomy G.
hypotelerism (secondary to hypoplasia of the central
(2) Translocation (5%): A segment of a 21 chro-
face) are common findings. Absence of frontal si-
mosome is found attached to other pairs of
nuses and absent or reduced maxillary sinuses have
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SOUTHERN ASSOCIATION OF INSTITUTIONAL DENTISTS — Self-Study Course Module 3
been reported. Nasal septum or nasal conchal devia-
15-50 times more prevalent in the population with
tions are often observed which can produce a par-
Down Syndrome compared with the general popula-
tially obstructed or narrow air passage and can con-
tion.
tribute to the problem of mouth breathing.
O Alzheimer Dementia
MEDICAL CONDITIONS
Many studies show that virtually 100% of persons
with Down Syndrome over 35 years old develop
O Congenital Cardiopathies
neurological signs of Alzheimer disorder, as
evidenced by post-mortem findings. Yet many of
A 40% incidence of mitral valve prolapse (MVP)
these individuals live long lives with no clinical
has been reported in persons with Down Syndrome.
signs of dementia. Some studies show no signs of
The diagnosis of MVP and aortic regurgitation (AR)
intellectual deterioration occurring prior to 50 years
is much higher when echocardiograms are used. In
in 50% of Down Syndrome subjects and no relation-
one study, a medical history showed 6% of subjects
ship between chronological age and presence of
with DS (versus 2% of the controls) had aortic regur-
disturbed behavior. The discrepancies between neu-
gitation and 14% of the DS subjects (versus 4% of
rological and clinical findings may be explained by
the controls) had mitral valve prolapse. When echo-
the evidence that although the neurological changes
cardiograms were obtained on these subjects with
seen in persons with Down Syndrome and Alzheimer
Down Syndrome the incidence of AR rose to 11%
dementia are similar, the regional distribution within
and that of MVP rose to 57%. A connective tissue
the brain is different.
abnormality (collagen defect) may be a possible
Incidentally, the life expectancy of persons with DS,
explanation of the high incidence of MVP in these
although shorter than the general population, has
clients. The need for antibiotic prophylaxis in these
increased markedly over the past fifty years (1929: 9
clients is obvious. The incidence of AR, MVP, hy-
years versus 1980: 30 years).
pertension, or arteriosclerosis does not appear to rise
with increasing chronological age in these individu-
O
als.
Atlanto-axial Instability
The incidence of atlanto-axial instability in per-
O Upper Respiratory Tract
sons with Down Syndrome has been reported as ten
to twenty percent. This condition refers to an abnor-
Infections-hepatitis-leukemia
mal increase in mobility of the upper two cervical
The higher incidence of upper respiratory tract
vertebra (Cl/C2) due to congenital ligamentous lax-
infections (URTI) seen in persons with Down Syn-
ity. What percentage of instances of instability lead-
drome is thought to be due to their impaired immu-
ing to actual dislocation, which can lead to severe
nologic response to infectious or inflammatory dis-
spinal cord injury, is unknown. Although some
eases. Prior to the age of antibiotics, most of these
sources recommend early (5-6 years) clinical and
individuals died at an early age from pneumonia. The
radiographic evaluation in these individuals, others
increase in URTI contributes to mouth breathing and
claim that instability leading to dislocation is not
speech problems and along with nasal septal devia-
well founded and that radiographs are not predictive
tions, may complicate the use of general anesthesia.
in this regard. This problem of ligamentous laxity
This immunologic impairment increases the inci-
apparently decreases with age compared with an age
dence of a carrier state and lowers the incidence of
related increase in degenerative cervical arthritis
immunity in individuals with Down Syndrome ex-
which is also commonly seen in these individuals.
posed to the Hepatitis virus. A recent study in Geor-
Ligamentous laxity can affect other parts of the body
gia showed 27% of institutionalized subjects with
producing a hyperflexibility of all joints. This prob-
Down Syndrome and 7% non Down Syndrome,
lem together with general muscle hypotonia can
mentally retarded subjects were positive for HBsAg.
produce the shuffling gait often seen in persons with
However, the incidence in 37 non-institutionalized
Down Syndrome.
subjects with Down Syndrome were similar to the
general population. The incidence of leukemia (unre-
strained growth of leukocytes) has been reported as
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SOUTHERN ASSOCIATION OF INSTITUTIONAL DENTISTS — Self-Study Course Module 3
O Other Medical Problems
but thought to be directly related to the reduced
-
Speech: The speech problems commonly
immunologic response to infections and inflamma-
noted are related to the central motor deficit
tory disease reported in these individuals. The issue
and degree of mental retardation rather than a
of ligamentous laxity/ degeneration may also play a
peripheral articulation problem. Delayed s-
part in the destruction of the periodontal ligament.
peech and a husky quality of voice are com-
This defect in host response has been reported in
mon findings in these individuals.
many controlled studies showing greater inflamma-
-
Hearing: Studies show that persons with DS
tion and cellular response occurring with equal
have a significantly higher level of hearing
plaque levels. The clinical course in individuals with
impairments with an incidence of 77%
DS is similar to juvenile periodontosis, except it is
reported. This hearing impairment, usually
not isolated to a few teeth. Other evidence supports
mild, is related to smaller ear canals and con-
this issue of deficits in host response being responsi-
sequent impacted cerumen.
ble for the periodontal problems of persons with
-
Eye problems: There is an apparent increased
Down Syndrome. Several reports have indicated a
risk for cataracts in these individuals.
high incidence of acute necrotizing ulcerative gingi-
-
Epilepsy/Cerebral Palsy: There is no
vitis (ANUG) in these individuals. One study
increased incidence in these conditions for
showed 45% of institutional DS subjects versus 4%
persons with Down Syndrome.
of the non DS/MR controls with evidence of ANUG.
-
Other Problems: Persons with Down Syn-
This condition historically has been associated with
drome usually are below average in height and
alterations in host response, often stress related. Oral
often have a stooping posture. Obesity and
conditions associated with an increase in ANUG in
sexual underdevelopment are common. Dry
these individuals were: crowded dentition (vs spac-
rough scaly skin is also common, and a single
ing), traumatic occlusion, peg shaped anterior teeth,
palmar crease (simian crease) is seen in 45%
lack of root resorption in primary teeth and incidence
of these individuals.
of high frenum attachment. The clinical picture of
ANUG in persons with Down Syndrome differs from
the usual symptoms in that fetid breath and exquisite
DENTAL CONDITIONS
pain are rarely reported.
Although many of the earlier and classical studies
O Caries
reporting dental conditions in persons with Down
Older studies reported a dramatically lower decay
Syndrome were institutional based and often poorly
rate in the population with Down Syndrome com-
controlled, these findings have been consistently
pared with controls (53% caries free vs. 0.5% in
supported in more recent investigations.
controls). More recent studies continue to support
the lower decay rate in persons with Down Syn-
O Periodontal Disease/oral Hygiene
drome, but the difference is shown to be far less than
Inadequate oral hygiene has been a universal
previously reported. Overall reduction in dental
finding in the institutional based studies. There is no
decay and controlling for eruption times may explain
evidence that institutional or community based per-
the differences in the earlier and more recent studies.
sons with Down Syndrome experience a different
Incidentally, the delay in eruption of permanent teeth
level of oral hygiene than other persons with mental
has been reported as only 0.7 years.
retardation. Also there has been reported no differ-
ence in the presence of calculus in these persons.
O Malocclusion
However, a severe, early onset, often dramatic fulmi-
There is an increased incidence of malocclusion
nating periodontal disease is a universal finding with
in individuals with DS, particularly Class III maloc-
an incidence of 90-96% in these individuals. It is
clusions. The higher incidence of Class III malocclu-
common to see alveolar bone loss in persons with DS
sions is due to the underdevelopment of the midface
age 6-16 years. This increased incidence of perio-
(nasal, premaxillary and maxillary bones) not to
dontal disease is, therefore, not related to an
prognathism. The increased incidence of all maloc-
increased amount of plaque or more virulent plaque;
clusions has been reported as: Class III, 32-70%;
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SOUTHERN ASSOCIATION OF INSTITUTIONAL DENTISTS — Self-Study Course Module 3
Class II, 3-32%; posterior unilateral and bilateral
lower decay rate. More recent studies, however, have
cross bites, 71%; and open bites, 5%. Contrary to
found no PH differences in the saliva of DS subjects
many medical reports, a high arched palate is not a
compared with other MR subjects or the general
characteristic of this population; the palatal height
population.
and shape is normal but the palate is relatively small
in all dimensions including a decreased arch length
GENERAL TREATMENT
and arch circumference.
Microdontia, especially in the mesio-distal di-
CONSIDERATIONS
mension is common. The incidence of missing per-
manent laterals has been reported as high as 35-43%
Down Syndrome is a permanent genetic disabil-
compared with 2% in the general population. Rotated
ity. The general management of persons with this
teeth (especially centrals), spaced teeth (especially
condition including medical and educational man-
lower bicuspids), peg shaped teeth (especially later-
agement will not be included in this review. Also,
als)and more congenitally missing permanent teeth
management of maladaptive dental behaviors for
are common findings.
those individuals with DS and behavioral problems
Additional findings indicate more over retained
is covered in Modules 2, 5 and 6. There are, how-
primary teeth (especially primary cuspids and second
ever, some medical issues that are germane to the
molars), delayed eruption of permanent teeth, more
dental care of these individuals.
impacted teeth (especially cuspids and bicuspids)
and more variable tooth morphology (especially
O Immune Response and Vitamin
nippled cuspids and shovel shaped maxillary inci-
Therapy
sors).
Although it may seem unusual to dentists and
There is evidence reported that both crowns and
physicians, there has been considerable interest on
roots, but especially roots, of permanent teeth in this
the part of parents and other professionals in pursu-
population are shorter than normal, thus creating an
ing mega-vitamin therapy in addressing the lowered
unfavorable crown-root ratio. Increased taurodontism
immune response to infection seen in persons with
has also been reported in persons with Down Syn-
Down Syndrome. All studies, however, conclude that
drome. Taurodontism together with abnormally short
short or long term administration of various vitamin
roots would reduce the extent of periodontal liga-
therapies have no effect on any aspects of Down
ment attachment and would be expected to contrib-
Syndrome.
ute to tooth mobility so commonly seen in these
persons.
O Partial Glossectomies or
O Other Dental Problems
Adenotonsillectomies
Many recent studies support the positive out-
The incidence of macroglossia has been reported
comes of partial glossectomies in persons with Down
as 11-60% in persons with Down Syndrome although
Syndrome with relative macroglossia. These positive
the presence of true macroglossia has been ques-
outcomes include: less tongue protrusion, better
tioned by some investigators. There is agreement,
speech and pronunciation (due to higher pitch with
however, on the presence of a relative macroglossia
mouth closed)(45%), less upper respiratory tract
due to the small palatal space and hypotonic tongue.
infection (83%), increased ability to maintain a
Fissured tongue and protruding tongue due to for-
closed mouth (60%), better mastication and drinking,
ward position of the mandible and open mouth is a
better self confidence and pleased parents (95%).
common finding. Also, increases in bifid uvula and
The dentist may well be involved as a consultant on
submucous clefts and cleft palates have been re-
this issue. Similarly, there are reports on the positive
ported in this population.
outcomes of adenotonsillectomies in persons with
Reports on the differences in parotid gland secre-
Down Syndrome. These include: improvement in
tions are conflicting. Earlier studies showed parotid
sleep apnea (83%), reduced mouth breathing (91%),
gland secretions with an elevated PH (alkaline sa-
reduced snoring and nasal drainage (75%). In ab-
liva) and elevated sodium, calcium and bicarbonate
sence of nasal obstruction, no improvement in
levels which may contribute to the documented
tongue protrusion was noted.
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SOUTHERN ASSOCIATION OF INSTITUTIONAL DENTISTS — Self-Study Course Module 3
O Cosmetic Facial Surgery
emphasized. Early diet counseling can also be
There is considerable controversy regarding the
of benefit in preventing the obesity and other
advantages and disadvantages of cosmetic surgery to
diet problems commonly encountered in this
reduce the stigma of Down Syndrome and to aid in
population.
social development. These procedures would include
augmentation of the nasal, cheek and chin areas,
O Early, Aggressive and Innovative
glossectomies and lateral canthoplasty. Proponents,
Periodontal Therapy
usually parents, support the surgery as a normalizing
It may be helpful to the clinician to employ a
procedure. Opponents contend that the accompany-
treatment approach to patients with Down Syndrome
ing mental retardation is the main disability and
with actual or anticipated periodontal problems
cosmetic surgery is too radical and serious a proce-
similar to the treatment approaches advocated for
dure for the minor gains expected.
patients with acquired immunodeficiency syndrome
(AIDS). That is, early aggressive, innovative, and
DENTAL TREATMENT
often untried approaches based upon knowledge of
the host response problems may prove fruitful in
CONSIDERATIONS
addressing these unusual conditions.
-
Topical antimicrobial agents (e.g., peridex®,
As with cerebral palsy, there is a paucity of infor-
Listerine®) may be indicated on a long-term
mation in the literature regarding treatment options
basis for these individuals. The ability of the
for persons with Down Syndrome. The clinician
individual to rinse and expectorate may be a
must employ an innovative approach to dental care
limiting factor. Other delivery methods such
for these individuals based upon the data provided in
as gels or sprays may be helpful.
the previous section entitled "Dental Conditions."
-
Systemic antimicrobial agents, particularly
The following information is derived from the litera-
tetracycline may be helpful. Long term tetra-
ture and suggestions presented by the authors.
cycline therapy (10-30 years) is common in
the field of dermatology, yet the ADA state-
O Periodontal Disease and oral Hygiene
ment that "long term antibiotic use in den-
Problems
tistry is considered experimental" certainly
-
Documentation: Early documentation of
creates a barrier for the dentist.
developing periodontal disease, especially
-
Early preventive periodontal therapy, includ-
bone loss and pocket formation, is important.
ing vestibular extensions, frenectomies and
It is quite unusual for most dentists to contem-
grafts should be considered. The major prob-
plate documentation of periodontal disease
lem is the lack of data confirming the success
onset and advancement at such an early age
of periodontal therapy in the presence of an
(6-16). Yet when confronted by a parent or
altered immune or host response. Long term
advocate at the time when extraction of a per-
studies documenting the success or failure of
manent tooth has been recommended for an 18
such therapies should not be expected in the
year old patient with Down Syndrome due to
near future. Thus the clinician in consultation
advanced bone loss, proper documentation of
with the patients' parents/guardians should
the disease progression and therapies
rely on clinical judgement and reasonable
attempted assumes greater importance for the
expectations in recommending an early ag-
dentist.
gressive surgical approach. The dental coop-
-
Communication: Early communication with
eration of the patient is an important and lim-
parents/guardians regarding the limitations of
iting factor in this regard. Since host response
dental care in preventing tooth loss and other
is impaired and post surgical healing may be
dental sequela including prosthetic limitations
prolonged, the use of antibiotics following
is important. It is at this time that the responsi-
even minor surgical procedures may be indi-
bility for meticulous oral hygiene and the sup-
cated. There is some evidence that some per-
port and development of acceptable dental
sons with Down Syndrome have a peripheral
behaviors by the parents/caretakers can be
circulation problem with an abnormal capil-
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SOUTHERN ASSOCIATION OF INSTITUTIONAL DENTISTS — Self-Study Course Module 3
lary or vascular system which could affect the
stage, to prevent inappropriate expectations in this
healing and success of autogenous gingival
regard.
grafts. Early and aggressive therapy, where
there is evidence of ANUG or similar dental
O Medical Considerations
papilla destroying periodontal disease, is im-
-
Attempts to refer a patient with Down Syn-
portant. Since over retained primary teeth are
drome for a complete cardiac evaluation,
associated with increased ANUG and perio-
including an echocardiogram, may prove
dontal disease in these patients, close attention
fruitful if client cooperation allows. If a car-
to extraction of primary teeth showing
diac evaluation is not available, routine anti-
reduced root resorption rates should be con-
biotic coverage of these patients may be a
sidered. Also, since crowded dentition is asso-
reasonable alternative.
ciated with increased periodontal problems,
-
The effects of frequent upper respiratory tract
selected extraction of primary or permanent
infections, reduced size of nasal passage due
teeth or radical enameloplasty to create inter-
to septal deviation and mouth breathing on
dental spacing is another consideration.
the use of sedation in persons with Down
-
The use of bone grafts or bone replacement
Syndrome should be considered. Special at-
products (e.g. hydroxyapatite) may hold prom-
tention to patient positioning and sedation
ise for future use. Aggressive and radical
monitoring, especially with pulse oximetry, is
occlusal equilibration to reduce occlusal inter-
indicated.
ferences and to reduce crown height produc-
-
The hearing loss experienced by many of
ing a more favorable crown-root ratio, should
these individuals should be taken into consid-
be strongly considered. A flat plane occlusion
eration when communicating with the patient.
may be helpful in overcoming the periodontal
All of the techniques employed to overcome
impact of Class III malocclusions and poste-
difficulties presented by a hearing impairment
rior cross bites. Early orthodontic intervention
in other individuals would be appropriate for
with palate expansion and cross bite correc-
these persons.
tion may reduce subsequent adverse impact of
expected malocclusion. Restoration of pegged
S
shaped cuspids with cast or composite restora-
UMMARY
tions may also contribute to improved perio-

dontal health.
The provision of dental services to the person
with Down Syndrome who is severely/profoundly
O Prosthetic Treatment
retarded presents unique challenges to the institu-
Prosthetic treatment choices can be very limited
tional dental staff. A thorough knowledge of the
with this population. The existence of periodontal
unusual dental implications of this syndrome and an
disease and tooth mobility can severely limit the
innovative problem solving approach to treatment
choice of fixed or removable partial dentures. The
planning and preventive procedures will do much to
lack of cooperation seen with many patients with
alleviate the dental effects of this handicapping
Down Syndrome also renders these choices prob-
condition.
lematical. Complete dentures are oftennot a viable
treatment choice due to lack of retention (caused by
BIBLIOGRAPHY
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Brown, R.H., A Longitudinal Study of Perio-
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Zealand Dent Jour. 74(337):137-44, July
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1978.
plant technology, however the issues of host
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2.
Moellinger, C.E., Down's Syndrome--A Re-
this treatment choice. It is imperative that the limita-
view of the Recent Literature J Missouri Dent
tions of prosthetic replacement be fully explained to
Assoc 46:8-13 Dec. 1966.
the parent/guardian early in the treatment planning
7

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Shapiro, S., et al Alzheimer's disease: an
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Vigild, M. J., Dental caries experience among
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Yarom, R., et al Elevated concentrations of
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