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Health Care Guidelines for Individuals with Down Syndrome
from Down Syndrome Quarterly, Volume 1, Number 2
Edited by William I.
Cohen, M.D. for the Down Syndrome Medical Interest Group (DSMIG)*
For more articles on disabilities and special ed visit
www.bridges4kids.org.
Individuals with Down syndrome (DS) need the usual health care
screening procedures provided to everyone. For example,
children with DS need the usual immunizations and well child
care procedures as recommended by the American Academy of
Pediatrics.** [Immunization practices are continually
evolving: be certain to use the most up-to-date protocols.]
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
which occur in much higher frequency in individuals with DS.
Described below is a check list 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 experts 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 detect 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. Consequently, members of
the DSMIG will be embarking on a prospective study of thyroid
function screening to better be able to answer this question.
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). 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.
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.
These "Health Care 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 Down Syndrome Quarterly. The previous version
was prepared in June, 1992, by the members of the Ohio/Western
PA Down Syndrome Network and published in DSPAP (1992, 15(3),
1-9) and was based on the 1989 version prepared by Dr. Nancy
Roizen, University of Chicago.
The preparation of this revision has been a cooperative
effort. As editor, I have been particularly fortunate to have
the expertise of the several members of Down Syndrome Medical
Interest Group (DSMIG).***
With this edition, we have changed the title of the document
to reflect its broader scope. No longer a list of screening
procedures, this document has evolved over the last several
versions into a comprehensive summary of current
recommendations for medical, as well as developmental, social,
and family needs for individuals with Down syndrome.
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 Care 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 Medical and
Surgical Care for Children with Down Syndrome (D.C. Van Dyke
et al. (Eds). Currently Dr. Cooley (Dartmouth-Hitchcock
Medical Center) and Dr. Golder Wilson (University of Texas
Southwestern Medical Center at Dallas) are preparing a
compilation of similar preventive checklists for a variety of
genetic disorders. They have prepared two one-page summaries
for children with Down syndrome. Please contact Dr. Wilson at
214-648-8996 to obtain copies of this material or for more
information. Dr. Brian Chicoine has prepared a variety of
material 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) 318-2878 if you wish
to obtain this material.
NEONATAL (BIRTH TO TWO MONTHS)
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's disease). Review feeding history to ensure
adequate caloric intake; Are there 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).
Lab and Consults: Chromosomal karyotype; genetic counselling;
thyroid function test (TSH and T+subscript 4); 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)
test or other objective assessment of hearing to assess
hearing by 6 months of age, if not performed at birth. Refer
to vision/ophthalmological evaluation by six to twelve 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 Early Intervention and refer for
enrollment in local program. Parents at this stage often ask
for predictions of their child's abilities: "Can you tell how
severe it is?" This is an opportunity to discuss the unfolding
nature of their child's development, the importance of
developmental programming, and our expectation of being better
able to answer that question closer to two years of age.
Recommendations: Referral to local DS parent group for family
support, as indicated.
INFANCY (2- 12 MONTHS)
History: Review parental concerns. Respiratory infections
(especially otitis media); for constipation, use aggressive
dietary management and consider Hirschsprung's disease if
resistant to dietary changes and stool softeners. 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): it
must be remembered 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)
or other objective assessment of hearing by 6 months of age if
not performed previously or if previous results are
suspicious; pediatric ophthalmology evaluation by six to
twelve months of age (earlier if nystagmus, strabismus or
indications of poor vision are present); thyroid function test
(TSH and T+subscript 4), if not performed previously;
evaluation by ENT specialist for recurrent otitis media.
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 may 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. Include a brief
vulvar exam for girls.
Lab and Consults: Echocardiogram by a pediatric cardiologist
if not done previously; Thyroid function test (TSH and
T+subscript 4) yearly; auditory testing (yearly for children
1-3 yrs old, every two years for children 3-13 yrs old).
Continue regular eye exams every two years if normal, or more
frequently as indicated. At 3 years and 12 years of age,
lateral cervical spine x-rays (neutral view, flexion and
extension) to rule out atlanto-axial instability: have
radiologist measure the atlanto-dens distance. 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.
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 family's need for
respite care, supportive counselling and behavior management
techniques. Reinforce the importance of good self-care skills
(grooming, dressing, 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. Pelvic exam if sexually active,
only. (See Consults, below).
Lab and consults: Thyroid function testing (TSH and
T+subscript 4) yearly. Hearing and vision evaluations every
other year. Repeat cervical spine x-rays at 12 yrs and 18 yrs
in the asymptomatic individual. Echocardiogram for individuals
without congenital heart disease once in early adulthood (18 -
20 years) to evaluate for valvular disease. Consult with
Adolescent Medicine practitioner or a gynecologist experienced
in working with individuals with special needs to address
issues of sexuality and/or for pelvic examination for sexually
active teenager.
Developmental: Repeat psychoeducational evaluations every year
as part of Individualized Educational Plan (IEP). Monitor
independent functioning. Continue speech/language therapy as
needed. Health and sex education, including counselling
regarding abuse prevention. Smoking, drug, and alcohol
education.
Recommendations: Begin functional transition planning (age
16). Twice yearly dental exams. 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, 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).
Exam: General physical and neurological examination (with
reference to atlanto-axial dislocation). Monitor for obesity
by plotting height for weight. 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 T+subscript 4). Ophthalmologic evaluation
every two years (looking especially for keratoconus and
cataracts). Continue auditory testing every two years. Repeat
cervical spine x-rays once in adulthood in asymptomatic
individual. Echocardiogram for individuals without congenital
heart disease once in early adulthood (18 - 20 years) to
evaluate for valvular disease. 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,
money handling skills). Bereavement counselling for
individuals who have experienced the loss of an important
person in their life, either via death or by other
circumstances (e.g., sibling moves away after marriage or goes
off to college).
The following is 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 echocardiogram is recommended. Adolescents and young
adults with no known intracardiac disease can develop valve
dysfunction and should be screened at age 18, especially prior
to dental or surgical procedures. [See References, Section G,
Geggel RL, et al.]
ENT/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 within the first 6
months of life. The most common method in wide-spread 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. Audiological
evaluation for screening purposes should be performed on a
yearly basis until three years of age and every other year
thereafter.
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: 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),
fatiguability 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. Sinusitis, manifested by purulent nasal
discharge, occurs commonly and deserves aggressive management.
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 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
6-12 months of age, and be performed every 1-2 years
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.
Atlantoaxial Instability (AAI): 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
isfound 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 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.
Since joint instability may change over time, individuals with
normal evaluation should have periodic reevaluation as per the
guidelines: 12 years, 18 years, and once in adulthood. Those
with an abnormal screen should be re-evaluated in one year.
Children with borderline findings or abnormal films should be
evaluated with a careful neurological examination to rule out
spinal cord compression. Neuro-imaging (CT Scan or MRI) is
probably indicated. Significant changes in a child's
neurological status would necessitate evaluation and possible
treatment (i.e, spinal fusion). Asymptomatic children with
instability (5to 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.
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 child's oral-motor function and
refer as needed. In general, physical and occupational therapy
services are included in most early intervention programs for
infants, where positioning, feeding, and motor strengthening
exercises are some of the services available.
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 T+subscript 4 every
six months, withholding treatment unless the T+subscript 4 is
low.
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), where
the following is stated: "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." (p. 8).
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 a
subsequent children may have Down syndrome. This service
should also be made available to individuals with DS, when
appropriate.
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.
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. Note that this is the case with
individuals with mental retardation of other etiologies.
Psychiatric Disorders: 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 Chicoine
B, et al. p 103, in section B (Adult Health) of References]
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.
The signs of depression in typical individuals usually
consists 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, with the
exception of Alzheimer disease. 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.
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 and there have 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. We are
currently seeking to devise methods of discovering what value
this drug may have. Further information in this area will be
published in the "News from DSMIG" section of each issue of
Down Syndrome Quarterly.
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.
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