Health Supervision for Children With Down Syndrome

AMERICAN ACADEMY OF PEDIATRICS
Committee on Genetics
Health Supervision for Children With Down Syndrome
ABSTRACT.
These guidelines are designed to assist
somal material is the result of an unbalanced trans-
the pediatrician in caring for the child in whom the
location between chromosome 21 and another acro-
diagnosis of Down syndrome has been confirmed by
centric
chromosome,
usually
chromosome
14.
karyotype. Although the pediatrician’s initial contact
Approximately three fourths of these unbalanced
with the child is usually during infancy, occasionally the
translocations are de novo, and approximately one
pregnant woman who has been given the prenatal diag-
fourth are the result of familial translocations. If the
nosis of Down syndrome will be referred for counseling.
Therefore, these guidelines offer advice for this situation
child has a translocation, a balanced translocation
as well.
must be excluded in the parents. If there is a trans-
location in either parent, additional familial studies
ChildrenwithDownsyndromehavemultiple andcounselingshouldbeinstituted.Intheremain-
malformations and mental impairment be-
ing 1% to 2% of persons with the Down syndrome
cause of the presence of extra genetic material
phenotype, 2 cell lines are present: 1 normal and 1
from chromosome 21. Although the phenotype is
trisomy 21. This condition is called mosaicism. These
variable, usually there is enough consistency to en-
persons, on average, may be phenotypically less se-
able the experienced clinician to suspect the diagno-
verely affected than persons with trisomy 21 or
sis. Among the more common physical features are
translocated chromosome 21, but their conditions are
hypotonia, small brachycephalic head, epicanthic
generally indistinguishable in all other aspects.
folds, flat nasal bridge, upward slanting palpebral
Medical management, home environment, educa-
fissures, Brushfield spots, small mouth, small ears,
tion, and vocational training can significantly affect
excessive skin at the nape of the neck, single trans-
the level of functioning of children and adolescents
verse palmar crease, and short fifth finger with cli-
with Down syndrome and facilitate their transition
nodactyly. A wide space, often with a deep fissure
to adulthood. The following outline is designed to
between the first and second toes, is also common.
help the pediatrician to care for children with Down
The degree of mental impairment is variable, ranging
syndrome and their families.1–4 It is organized by the
from mild (IQ: 50 –70) to moderate (IQ: 35–50), and
issues that need to be addressed in the various age
only occasionally to severe (IQ: 20 –35). There is an
groups (see Table 1).
increased risk of congenital heart defects (50%); leu-
Several areas require ongoing assessment through-
kemia ( 1%); hearing loss (75%); otitis media (50%–
out childhood and should be reviewed periodically
70%); Hirschsprung disease ( 1%); gastrointestinal
at developmentally appropriate ages. These include
atresias (12%); eye disease (60%), including cataracts
the following:
(15%) and severe refractive errors (50%); acquired
• Personal support available to family.
hip dislocation (6%); obstructive sleep apnea (50%–
• All other financial and medical support programs
75%); and thyroid disease (15%). The social quotient
for which the child and family may be eligible.
may be improved with early intervention techniques,
• Supplemental Security Income benefits.
although the level of function is exceedingly vari-
• Injury and abuse prevention with special consid-
able. Children with Down syndrome often function
eration of developmental skills.
better in social situations than might be expected
• Diet and exercise to maintain appropriate weight.
from their IQ.
In approximately 95% of children with Down syn-
THE PRENATAL VISIT
drome, the condition is because of nonfamilial tri-
Pediatricians may be asked to counsel a family in
somy 21. In approximately 3% to 4% of persons with
which a fetus has a genetic disorder. In some set-
the Down syndrome phenotype, the extra chromo-
tings, the pediatrician may be the primary resource
for counseling. At other times, counseling may have
The recommendations in this policy statement do not indicate an exclusive
been provided for the family by a clinical geneticist,
course of treatment for children with genetic disorders, but are meant to
obstetrician, or developmental pediatrician. In addi-
supplement anticipatory guidelines available for treating the healthy child
tion, parents may have received information from a
provided in the AAP publication, “Guidelines for Health Supervision.”
Down syndrome program, a national Down syn-
They are intended to assist the pediatrician in helping children with genetic
conditions to participate fully in life. Diagnosis and treatment of genetic
drome organization, or an Internet site. Because of a
disorders are changing rapidly. Therefore, pediatricians are encouraged to
previous relationship with the family, the pediatri-
view these guidelines in the light of evolving scientific information. Clinical
cian may be asked to review this information and
geneticists may be a valuable resource for the pediatrician seeking addi-
assist in the decision-making process. As appropri-
tional information or consultation.
PEDIATRICS (ISSN 0031 4005). Copyright © 2001 by the American Acad-
ate, the pediatrician should discuss the following
emy of Pediatrics.
topics with the family:
442
PEDIATRICS Vol. 107 No. 2 February 2001

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Anticipatory
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AMERICAN ACADEMY OF PEDIATRICS
443

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1. The prenatal laboratory or fetal imaging studies
with expertise and experience in pediatric patients
leading to the diagnosis.
and echocardiogram recommended).
2. The mechanism for occurrence of the disorder in
• Duodenal atresia
the fetus and the potential recurrence rate for the
• Constipation with increased risk of Hirschsprung
family.
disease
3. The prognosis and manifestations, including the
• Leukemia—more common in children with Down
wide range of variability seen in infants and chil-
syndrome than in the general population, but still
dren with Down syndrome.
rare ( 1%); leukemoid reactions, on the other
4. When applicable, additional studies that may re-
hand, are relatively common as is polycythemia
fine the estimation of the prognosis (eg, fetal echo-
(18%). Obtain complete blood count.
cardiogram, ultrasound examination for gastroin-
• Congenital hypothyroidism (1% risk)
testinal malformations).
• Respiratory tract infections
5. Currently available treatments and interventions.
This discussion needs to include the efficacy, po-
Anticipatory Guidance
tential complications and adverse effects, costs,
• Discuss increased susceptibility to respiratory
and other burdens associated with these treat-
tract infection
ments. Discuss early intervention resources, par-
• Discuss the availability and efficacy of early inter-
ent support programs, and any plausible future
vention.
treatments.
• Discuss the early intervention services in the com-
6. The options available to the family for manage-
munity.
ment and rearing of the child using a nondirective
• Inform the family of the availability of support
approach. In cases of early prenatal diagnosis, this
and advice from the parents of other children with
may include discussion of pregnancy continua-
Down syndrome.
tion or termination, rearing the child at home,
• Supply names of Down syndrome support groups
foster care placement, and adoption.
and current books and pamphlets (see “Bibliogra-
If the pregnancy is continued, a plan for delivery
phy and Resources for New Parents”).
and neonatal care must be developed with the obste-
• Discuss the strengths of the child and positive
trician and the family. Offer parent-to-parent con-
family experiences.
tact. As the pregnancy progresses, additional studies
• Check on individual resources for support, such as
may be valuable for modifying this management
family, clergy, and friends.
plan (eg, detection of a complex heart defect by
• Talk about how and what to tell other family
echocardiography). When appropriate, referral to a
members and friends. Review methods of coping
clinical geneticist should be considered for a more
with long-term disabilities.
extended discussion of clinical outcomes and vari-
• Review the recurrence risk in subsequent preg-
ability, recurrence rates, future reproductive op-
nancies and the availability of prenatal diagnosis.
tions, and evaluation of the risks for other family
• Discuss unproven therapies.6–12
members.
HEALTH SUPERVISION FROM 1 MONTH TO
1 YEAR: INFANCY
HEALTH SUPERVISION FROM BIRTH TO 1
Examination
MONTH: NEWBORNS
Physical Examination and Laboratory Studies
Examination
• Review the risk of serous otitis media (50%–70%).
Confirm the diagnosis of Down syndrome and
If the tympanic membranes cannot be visualized,
review the karyotype with the parents. Review the
or if the parents express any concern about their
phenotype. Discuss the specific findings with both
child’s hearing, refer the infant to an otolaryngol-
parents whenever possible, and talk about the fol-
ogist. Review the prior hearing evaluation (brain-
lowing potential clinical manifestations associated
stem auditory evoked response and otoacoustic
with the syndrome. These may have to be reviewed
emission and refer back to the otolaryngologist
again at a subsequent meeting.
and audiologist if the initial evaluation was abnor-
mal for follow up examination and testing. A be-
Discuss and Review
havioral audiogram should be obtained at 1 year
• Hypotonia
in all children examined.
• Facial appearance
• Check for strabismus, cataracts, and nystagmus by
6 months, if not done at birth. Check the infant’s
Evaluate for
vision at each visit, using developmentally appro-
• Feeding problems
priate subjective and objective criteria. By 6
• Strabismus, cataracts, and nystagmus at birth or
months, refer the infant to a pediatric ophthalmol-
by 6 months
ogist or an ophthalmologist with special expertise
• Congenital hearing loss with objective testing,
and experience with infants with disabilities.
such as brainstem auditory evoked response or
• Verify results of newborn thyroid function screen.
otoacoustic emission at birth or by 3 months5
Because of increased risk of acquired thyroid dis-
• Heart defects (approximately 50% risk). Perform
ease, repeat at 6 and 12 months and then annual-
cardiac evaluation (consultation by a cardiologist
ly.13,14
444
HEALTH SUPERVISION FOR CHILDREN WITH DOWN SYNDROME

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• Administer pneumococcal vaccine, as well as
(see “Bibliography and Resources for New Par-
other vaccines recommended for all children un-
ents”).
less there are specific contraindications.
• Review the family’s understanding of the risk of
recurrence of Down syndrome and the availability
Anticipatory Guidance
of prenatal diagnosis.
• Review the infant’s growth and development rel-
ative to other children with Down syndrome (Figs
HEALTH SUPERVISION FROM 1 TO 5 YEARS:
1– 4).15
• Review availability of Down syndrome support
EARLY CHILDHOOD
groups (see “Bibliography and Resources for New
• Obtain a history and perform a physical examina-
Parents”).
tion with attention to growth and developmental
• Assess the emotional status of parents and in-
status.
trafamily relationships. Educate and support sib-
• Review the risk of serous otitis media with hearing
lings and discuss sibling adjustments. At 6 to 12
loss. If the tympanic membranes cannot be com-
months, review the psychological support and in-
pletely visualized (because of the frequent prob-
trafamily relationships, including long-term plan-
lem of stenotic ear canals), check the child’s audio-
ning, financial planning, and guardianship.
gram every 6 months up to 3 years or up to when
• Review the early intervention services relative to
a pure tone audiogram is obtained. Refer the child
the strengths and needs of the infant and family
to an otolaryngologist or audiologist if necessary
Fig 1. Percentiles for height and weight of
females with Down syndrome, 1 to 36
months of age. From Cronk C, Crocker AC,
Pueschel SM, et al. Growth charts for chil-
dren with Down syndrome: 1 month to 18
years of age. Pediatrics. 1988;81:102–110.
AMERICAN ACADEMY OF PEDIATRICS
445

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Fig 2. Percentiles for height and weight of
females with Down syndrome, 2 to 18 years
of age. From Cronk C, Crocker AC, Pueschel
SM, et al. Growth charts for children with
Down syndrome: 1 month to 18 years of age.
Pediatrics. 1988;81:102–110.
(approximately 50%–70% risk of serous otitis me-
Anticipatory Guidance
dia between 3 and 5 years).
• Review early intervention, including physical
• Check the child’s vision annually, using develop-
therapy, occupational therapy, and speech, in the
mentally appropriate subjective and objective cri-
preschool program and discuss future school
teria. Refer the child to a pediatric ophthalmolo-
placement and performance.
gist or ophthalmologist with special expertise and
• Discuss future pregnancy planning, risk of recur-
experience with children with disabilities every 2
rence of Down syndrome, and prenatal diagnosis.
years (approximately 50% risk of refractive errors
• Assess the child’s behavior, and talk about behav-
between 3 and 5 years).
ioral management, sibling adjustments, socializa-
• At 3 to 5 years, obtain radiographs for evidence of
tion, and recreational skills.
atlantoaxial instability or subluxation. These may
• Encourage families to establish optimal dietary
be obtained once during the preschool years. The
and physical exercise patterns that will prevent
need for these studies has been questioned, but
obesity.
they may be required for participation in the Special
Olympics. These studies are more important for chil-
HEALTH SUPERVISION FROM 5 TO 13 YEARS:
dren who may participate in contact sports and are
LATE CHILDHOOD
indicated in those who are symptomatic.16–19
• Obtain a history and perform a physical examina-
• Perform thyroid screening tests annually.
tion with attention to growth and developmental
• Discuss symptoms related to obstructive sleep ap-
status.
nea, including snoring, restless sleep, and sleep
• Obtain audiologic evaluation annually.
position. Refer to a specialist as indicated.20
• Obtain ophthalmologic evaluation annually.
446
HEALTH SUPERVISION FOR CHILDREN WITH DOWN SYNDROME

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Fig 3. Percentiles for height and weight
of males with Down syndrome, 1 to 36
months of age. From Cronk C, Crocker
AC, Pueschel SM, et al. Growth charts
for children with Down syndrome: 1
month to 18 years of age. Pediatrics.
1988;81:102–110.
• Perform thyroid screening tests annually (3%–5%
• Discuss socialization, family status, and relation-
risk of hypothyroidism).
ships, including financial arrangements and
• If appropriate, discuss skin problems: very dry
guardianship.
skin and other skin problems are particularly com-
• Discuss the development of age-appropriate social
mon in patients with Down syndrome.
skills, self-help skills, and the development of a
• Discuss symptoms related to obstructive sleep
sense of responsibility.
apnea, including snoring, restless sleep, and
• Discuss psychosexual development, physical and
sleep position. Refer to a specialist as indi-
sexual development, menstrual hygiene and man-
cated.20
agement, fertility, and contraception.21
• Discuss the need for gynecologic care in the pu-
Anticipatory Guidance
bescent female. Talk about the recurrence risk of
• Review the child’s development and appropriate-
Down syndrome with the patient and her family if
ness of school placement and developmental in-
she were to become pregnant.22 Review the fact
tervention.
that although there have been 2 case reports in
AMERICAN ACADEMY OF PEDIATRICS
447

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Fig 4. Percentiles for height and weight of
males with Down syndrome, 2 to 18 years of
age. From Cronk C, Crocker AC, Pueschel SM, et
al. Growth charts for children with Down syn-
drome: 1 month to 18 years of age. Pediatrics.
1988;81:102–110.
which a male has reproduced, males with Down
• Discuss sexuality and socialization. Discuss the
syndrome are usually infertile.22
need for and degree of supervision and/or the
need for contraception. Make recommendations
for routine gynecologic care.
HEALTH SUPERVISION FROM 13 TO 21 YEARS OR
• Discuss group homes and independent living op-
OLDER: ADOLESCENCE TO EARLY ADULTHOOD
portunities, workshop settings, and other commu-
Examination
nity-supported employment.
• Perform physical examination including CBC and
• Discuss intrafamily relationships, financial plan-
thyroid function tests.
ning, and guardianship.
• Obtain annual audiologic evaluation.
• Facilitate transfer to adult medical care.
• Obtain annual ophthalmologic evaluation.
• Discuss skin care.
Committee on Genetics, 2000 –2001
Christopher Cunniff, MD, Chairperson
Anticipatory Guidance
Jaime L. Frias, MD
• Discuss issues related to transition into adulthood.
Celia Kaye, MD, PhD
• Discuss appropriateness of school placement with
John B. Moeschler, MD
emphasis on adequate vocational training within
Susan R. Panny, MD
the school curriculum.20,23
Tracy L. Trotter, MD
• Talk about the recurrence risk of Down syndrome
Liaisons
with the patient and her family if she were to
Felix de la Cruz, MD, MPH
become pregnant.22
National Institutes of Health
448
HEALTH SUPERVISION FOR CHILDREN WITH DOWN SYNDROME

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James W. Hanson, MD
11. Spigelblatt L, Laine-Ammara G, Pless IB, Guyver A. The use of alter-
American College of Medical
native medicine by children. Pediatrics. 1994;94(6 pt 1):811– 814
Genetics
12. American College of Medical Genetics. Statement on Nutritional Supple-
Michele Lloyd-Puryear, MD, PhD
ments and Piracetam for Children With Down Syndrome. Bethesda, MD:
American College of Medical Genetics; 1996
Health Resources and Services
13. Cutler AT, Benezra-Obeiter R, Brink SJ. Thyroid function in young
Administration
children with Down syndrome. Am J Dis Child. 1986;140:479 – 483
Cynthia A. Moore, MD, PhD
14. Karlsson G, Gustafsson J, Hedov G, Ivarsson SA, Anneren G. Thyroid
Centers for Disease Control and
dysfunction in Down’s syndrome: relation to age and thyroid autoim-
Prevention
munity. Arch Dis Child. 1998;79:242–245
John Williams III, MD
15. Cronk C, Crocker AC, Pueschel SM, et al. Growth charts for children
American College of Obstetricians
with Down syndrome: 1 month to 18 years of age. Pediatrics. 1988;81:
and Gynecologists
102–110
16. Davidson RG. Atlantoaxial instability in individuals with Down
Section Liaison
syndrome: a fresh look at the evidence. Pediatrics. 1988;81:857– 865
H. Eugene Hoyme, MD
17. Msall ME, Reese ME, DiGaudio K, Griswold K, Granger CV, Cooke RE.
Section on Genetics
Symptomatic atlantoaxial instability associated with medical and reha-
bilitative procedures in children with Down syndrome. Pediatrics. 1990;
Consultants
85(3 pt 2):447– 449
Marilyn J. Bull, MD
18. Pueschel SM, Findley TW, Furia J, Gallagher PL, Scola FH, Pezzullo JC.
William I. Cohen, MD
Atlantoaxial instability in Down syndrome: roentgenographic, neuro-
Franklin Desposito, MD
logic, and somatosensory evoked potential studies. J Pediatr. 1987;110:
Beth A. Pletcher, MD
515–521
Nancy Roizen, MD
19. Pueschel SM, Scola FH. Atlantoaxial instability in individuals with
Down syndrome: epidemiologic, radiographic, and clinical studies. Pe-
Rebecca Wappner, MD
diatrics. 1987;80:555–560
Staff
20. Pueschel SM, Pueschel JK, eds. Biomedical Concerns in Persons With Down
Lauri A. Hall
Syndrome. Baltimore, MD: Brookes Publishing; 1992
21. de la Cruz FF, LaVeck GD, eds. Human Sexuality and the Mentally
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