AMERICAN ACADEMY OF ACADEMY OF PEDIATRICS 

Committee on Genetics 

Health Supervision for Children With Down Syndrome 

ABSTRACT. These guidelines are designed to assist 
the pediatrician in caring for the child in whom the 
diagnosis of Down syndrome has been confirmed by 
karyotype. Although the pediatricians initial contact 
with the child is usually during infancy, occasionally the 
pregnant woman who has been given the prenatal diagnosis of Down syndrome will be referred for counseling. 
Therefore, these guidelines offer advice for this situation 
as well. 

Children with Down syndrome have multiple 
malformations and mental impairment because of the presence of extra genetic material 
from chromosome 21. Although the phenotype is 
variable, usually there is enough consistency to enable the experienced clinician to suspect the diagnosis. Among the more common physical features are 
hypotonia, small brachycephalic head, epicanthic 
folds, flat nasal bridge, upward slanting palpebral 
fissures, Brushfield spots, small mouth, small ears, 
excessive skin at the nape of the neck, single transverse palmar crease, and short fifth finger with clinodactyly. A wide space, often with a deep fissure 
between the first and second toes, is also common. 
The degree of mental impairment is variable, ranging 
from mild (IQ: 5070) to moderate (IQ: 3550), and 
only occasionally to severe (IQ: 2035). There is an 
increased risk of congenital heart defects (50%); leukemia (,1%); hearing loss (75%); otitis media (50% 
70%); Hirschsprung disease (,1%); gastrointestinal 
atresias (12%); eye disease (60%), including cataracts 
(15%) and severe refractive errors (50%); acquired 
hip dislocation (6%); obstructive sleep apnea (50% 
75%); and thyroid disease (15%). The social quotient 
may be improved with early intervention techniques, 
although the level of function is exceedingly variable. Children with Down syndrome often function 
better in social situations than might be expected 
from their IQ. 

In approximately 95% of children with Down syndrome, the condition is because of nonfamilial trisomy 21. In approximately 3% to 4% of persons with 
the Down syndrome phenotype, the extra chromo-

The recommendations in this policy statement do not indicate an exclusive 
course of treatment for children with genetic disorders, but are meant to 
supplement anticipatory guidelines available for treating the healthy child 
provided in the AAP publication, Guidelines for Health Supervision. 
They are intended to assist the pediatrician in helping children with genetic 
conditions to participate fully in life. Diagnosis and treatment of genetic 
disorders are changing rapidly. Therefore, pediatricians are encouraged to 
view these guidelines in the light of evolving scientific information. Clinical 
geneticists may be a valuable resource for the pediatrician seeking additional information or consultation. 
PEDIATRICS (ISSN 0031 4005). Copyright  2001 by the American Academy of Pediatrics. 

442 PEDIATRICS Vol. 107 No. 2 February 2001 

somal material is the result of an unbalanced translocation between chromosome 21 and another acrocentric chromosome, usually chromosome 14. 
Approximately three fourths of these unbalanced 
translocations are de novo, and approximately one 
fourth are the result of familial translocations. If the 
child has a translocation, a balanced translocation 
must be excluded in the parents. If there is a translocation in either parent, additional familial studies 
and counseling should be instituted. In the remaining 1% to 2% of persons with the Down syndrome 
phenotype, 2 cell lines are present: 1 normal and 1 
trisomy 21. This condition is called mosaicism. These 
persons, on average, may be phenotypically less severely affected than persons with trisomy 21 or 
translocated chromosome 21, but their conditions are 
generally indistinguishable in all other aspects. 

Medical management, home environment, education, and vocational training can significantly affect 
the level of functioning of children and adolescents 
with Down syndrome and facilitate their transition 
to adulthood. The following outline is designed to 
help the pediatrician to care for children with Down 
syndrome and their families.14 It is organized by the 
issues that need to be addressed in the various age 
groups (see Table 1). 

Several areas require ongoing assessment throughout childhood and should be reviewed periodically 
at developmentally appropriate ages. These include 
the following: 

 Personal support available to family. 
 All other financial and medical support programs 
for which the child and family may be eligible. 
 Supplemental Security Income benefits. 
 Injury and abuse prevention with special consideration of developmental skills. 
 Diet and exercise to maintain appropriate weight. 
THE PRENATAL VISIT 

Pediatricians may be asked to counsel a family in 
which a fetus has a genetic disorder. In some settings, the pediatrician may be the primary resource 
for counseling. At other times, counseling may have 
been provided for the family by a clinical geneticist, 
obstetrician, or developmental pediatrician. In addition, parents may have received information from a 
Down syndrome program, a national Down syndrome organization, or an Internet site. Because of a 
previous relationship with the family, the pediatrician may be asked to review this information and 
assist in the decision-making process. As appropriate, the pediatrician should discuss the following 
topics with the family: 


AMERICAN ACADEMY OF PEDIATRICS 443 

TABLE 1. Health Supervision for Children With Down SyndromeCommittee on Genetics*

Prenatal Infancy, 1 Month to 1 Year Early Childhood, 1 to 5 Years Late Childhood,Adolescence,
5 to 13 Years,13 to 21 Years,
Neonatal 2 Months 4 Months 6 Months 9 Months 12 Months 15 Months 18 Months 24 Months 3 Years 4 YearsAnnual Annual

DiagnosisKaryotype review   
Phenotype review   
Recurrence risks   

Anticipatory guidanceEarly intervention services            

Reproductive options      
Familysupport           
Support groups     
Long-term planning     
Sexuality   

Medical evaluationGrowth oooooo o o ooo o o 
Thyroid screening o o o o o o o o 
Hearing screening o S/o S/o S/o S/o S/o S/o S/o S/o S/o S/o 

 
Vision screening S/o S/o S/o S/o S/o S/o S/o S/o S/o S/o
S/o 
Cervical spine roentgenogram o** 
Echocardiogram  o 
CBCo o 

PsychosocialDevelopment and behavioral S/o S/o S/o S/o S/o S/o S/o S/o S/o S/o S/o S/o S/o S/o 
School performance o o o o o 
Socialization S S S 

* Assure compliance with the American Academy of Pediatrics Recommendations for Preventive Pediatric Health Care.
 
. 
to be performed; S 
. 
subjective, by history; and o 
. 
objective, by a standard testing method.
 Or at time of diagnosis.
 Discuss referral to specialist.
 Give once in this age group.
 According to state law.
. 
As needed.
** See discussion. 

1. The prenatal laboratory or fetal imaging studies 
leading to the diagnosis. 
2. The mechanism for occurrence of the disorder in 
the fetus and the potential recurrence rate for the 
family. 
3. The prognosis and manifestations, including the 
wide range of variability seen in infants and children with Down syndrome. 
4. When applicable, additional studies that may refine the estimation of the prognosis (eg, fetal echo-
cardiogram, ultrasound examination for gastrointestinal malformations). 
5. Currently available treatments and interventions. 
This discussion needs to include the efficacy, potential complications and adverse effects, costs, 
and other burdens associated with these treatments. Discuss early intervention resources, parent support programs, and any plausible future 
treatments. 
6. The options available to the family for management and rearing of the child using a nondirective 
approach. In cases of early prenatal diagnosis, this 
may include discussion of pregnancy continuation or termination, rearing the child at home, 
foster care placement, and adoption. 
If the pregnancy is continued, a plan for delivery 
and neonatal care must be developed with the obstetrician and the family. Offer parent-to-parent contact. As the pregnancy progresses, additional studies 
may be valuable for modifying this management 
plan (eg, detection of a complex heart defect by 
echocardiography). When appropriate, referral to a 
clinical geneticist should be considered for a more 
extended discussion of clinical outcomes and variability, recurrence rates, future reproductive options, and evaluation of the risks for other family 
members. 

HEALTH SUPERVISION FROM BIRTH TO 1
MONTH: NEWBORNS


Examination 

Confirm the diagnosis of Down syndrome and 
review the karyotype with the parents. Review the 
phenotype. Discuss the specific findings with both 
parents whenever possible, and talk about the following potential clinical manifestations associated 
with the syndrome. These may have to be reviewed 
again at a subsequent meeting. 

Discuss and Review 

 Hypotonia 
 Facial appearance 
Evaluate for 

 Feeding problems 
 Strabismus, cataracts, and nystagmus at birth or 
by 6 months 
 Congenital hearing loss with objective testing, 
such as brainstem auditory evoked response or 
otoacoustic emission at birth or by 3 months5 
 Heart defects (approximately 50% risk). Perform 
cardiac evaluation (consultation by a cardiologist 
with expertise and experience in pediatric patients 
and echocardiogram recommended). 

 Duodenal atresia 
 Constipation with increased risk of Hirschsprung 
disease 
 Leukemiamore common in children with Down 
syndrome than in the general population, but still 
rare (,1%); leukemoid reactions, on the other 
hand, are relatively common as is polycythemia 
(18%). Obtain complete blood count. 
 Congenital hypothyroidism (1% risk) 
 Respiratory tract infections 
Anticipatory Guidance 

 Discuss increased susceptibility to respiratory 
tract infection 
 Discuss the availability and efficacy of early intervention. 
 Discuss the early intervention services in the community. 
 Inform the family of the availability of support 
and advice from the parents of other children with 
Down syndrome. 
 Supply names of Down syndrome support groups 
and current books and pamphlets (see Bibliography and Resources for New Parents). 
 Discuss the strengths of the child and positive 
family experiences. 
 Check on individual resources for support, such as 
family, clergy, and friends. 
 Talk about how and what to tell other family 
members and friends. Review methods of coping 
with long-term disabilities. 
 Review the recurrence risk in subsequent pregnancies and the availability of prenatal diagnosis. 
 Discuss unproven therapies.612 
HEALTH SUPERVISION FROM 1 MONTH TO 
1 YEAR: INFANCY 

Examination 

Physical Examination and Laboratory Studies 

 Review the risk of serous otitis media (50%70%). 
If the tympanic membranes cannot be visualized, 
or if the parents express any concern about their 
childs hearing, refer the infant to an otolaryngologist. Review the prior hearing evaluation (brainstem auditory evoked response and otoacoustic 
emission and refer back to the otolaryngologist 
and audiologist if the initial evaluation was abnormal for follow up examination and testing. A behavioral audiogram should be obtained at 1 year 
in all children examined. 
 Check for strabismus, cataracts, and nystagmus by 
6 months, if not done at birth. Check the infants 
vision at each visit, using developmentally appropriate subjective and objective criteria. By 6 
months, refer the infant to a pediatric ophthalmologist or an ophthalmologist with special expertise 
and experience with infants with disabilities. 
 Verify results of newborn thyroid function screen. 
Because of increased risk of acquired thyroid disease, repeat at 6 and 12 months and then annual
ly.13,14 

444 HEALTH SUPERVISION FOR CHILDREN WITH DOWN SYNDROME 


 Administer pneumococcal vaccine, as well as 
other vaccines recommended for all children unless there are specific contraindications. 
Anticipatory Guidance 

 Review the infants growth and development relative to other children with Down syndrome (Figs 
14).15 
 Review availability of Down syndrome support 
groups (see Bibliography and Resources for New 
Parents). 
 Assess the emotional status of parents and intrafamily relationships. Educate and support siblings and discuss sibling adjustments. At 6 to 12 
months, review the psychological support and intrafamily relationships, including long-term planning, financial planning, and guardianship. 
 Review the early intervention services relative to 
the strengths and needs of the infant and family 
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 children with Down syndrome: 1 month to 18 
years of age. Pediatrics. 1988;81:102110. 

(see Bibliography and Resources for New Parents). 

 Review the familys understanding of the risk of 
recurrence of Down syndrome and the availability 
of prenatal diagnosis. 
HEALTH SUPERVISION FROM 1 TO 5 YEARS:
EARLY CHILDHOOD


 Obtain a history and perform a physical examination with attention to growth and developmental 
status. 
 Review the risk of serous otitis media with hearing 
loss. If the tympanic membranes cannot be completely visualized (because of the frequent problem of stenotic ear canals), check the childs audiogram every 6 months up to 3 years or up to when 
a pure tone audiogram is obtained. Refer the child 
to an otolaryngologist or audiologist if necessary 
AMERICAN ACADEMY OF PEDIATRICS 445 


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;81:102110. 

(approximately 50%70% risk of serous otitis media between 3 and 5 years). 

 Check the childs vision annually, using developmentally appropriate subjective and objective criteria. Refer the child to a pediatric ophthalmologist or ophthalmologist with special expertise and 
experience with children with disabilities every 2 
years (approximately 50% risk of refractive errors 
between 3 and 5 years). 
 At 3 to 5 years, obtain radiographs for evidence of 
atlantoaxial instability or subluxation. These may 
be obtained once during the preschool years. The 
need for these studies has been questioned, but 
they may be required for participation in the Special 
Olympics. These studies are more important for children who may participate in contact sports and are 
indicated in those who are symptomatic.16 19 
 Perform thyroid screening tests annually. 
 Discuss symptoms related to obstructive sleep apnea, including snoring, restless sleep, and sleep 
position. Refer to a specialist as indicated.20 
Anticipatory Guidance 

 Review early intervention, including physical 
therapy, occupational therapy, and speech, in the 
preschool program and discuss future school 
placement and performance. 
 Discuss future pregnancy planning, risk of recurrence of Down syndrome, and prenatal diagnosis. 
 Assess the childs behavior, and talk about behavioral management, sibling adjustments, socialization, and recreational skills. 
 Encourage families to establish optimal dietary 
and physical exercise patterns that will prevent 
obesity. 
HEALTH SUPERVISION FROM 5 TO 13 YEARS:
LATE CHILDHOOD


 Obtain a history and perform a physical examination with attention to growth and developmental 
status. 
 Obtain audiologic evaluation annually. 
 Obtain ophthalmologic evaluation annually. 
446 HEALTH SUPERVISION FOR CHILDREN WITH DOWN SYNDROME 


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;81:102110. 

 Perform thyroid screening tests annually (3%5% 
risk of hypothyroidism). 
 If appropriate, discuss skin problems: very dry 
skin and other skin problems are particularly common in patients with Down syndrome. 
 Discuss symptoms related to obstructive sleep 
apnea, including snoring, restless sleep, and 
sleep position. Refer to a specialist as indicated.20 
Anticipatory Guidance 

 Review the childs development and appropriateness of school placement and developmental intervention. 
 Discuss socialization, family status, and relationships, including financial arrangements and 
guardianship. 
 Discuss the development of age-appropriate social 
skills, self-help skills, and the development of a 
sense of responsibility. 
 Discuss psychosexual development, physical and 
sexual development, menstrual hygiene and management, fertility, and contraception.21 
 Discuss the need for gynecologic care in the pubescent female. Talk about the recurrence risk of 
Down syndrome with the patient and her family if 
she were to become pregnant.22 Review the fact 
that although there have been 2 case reports in 
AMERICAN ACADEMY OF PEDIATRICS 447 


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 syndrome: 1 month to 18 years of age. Pediatrics. 
1988;81:102110. 

which a male has reproduced, males with Down 
syndrome are usually infertile.22 

HEALTH SUPERVISION FROM 13 TO 21 YEARS OR 
OLDER: ADOLESCENCE TO EARLY ADULTHOOD 

Examination 

 Perform physical examination including CBC and 
thyroid function tests. 
 Obtain annual audiologic evaluation. 
 Obtain annual ophthalmologic evaluation. 
 Discuss skin care. 
Anticipatory Guidance 

 Discuss issues related to transition into adulthood. 
 Discuss appropriateness of school placement with 
emphasis on adequate vocational training within 
the school curriculum.20,23 
 Talk about the recurrence risk of Down syndrome 
with the patient and her family if she were to 
become pregnant.22 
 Discuss sexuality and socialization. Discuss the 
need for and degree of supervision and/or the 
need for contraception. Make recommendations 
for routine gynecologic care. 
 Discuss group homes and independent living opportunities, workshop settings, and other community-supported employment. 
 Discuss intrafamily relationships, financial planning, and guardianship. 
 Facilitate transfer to adult medical care. 
Committee on Genetics, 20002001 

Christopher Cunniff, MD, Chairperson 
Jaime L. Frias, MD 
Celia Kaye, MD, PhD 
John B. Moeschler, MD 
Susan R. Panny, MD 
Tracy L. Trotter, MD 

Liaisons 

Felix de la Cruz, MD, MPH 
National Institutes of Health 

448 HEALTH SUPERVISION FOR CHILDREN WITH DOWN SYNDROME 


James W. Hanson, MD 
American College of Medical 
Genetics 

Michele Lloyd-Puryear, MD, PhD 
Health Resources and Services 
Administration 

Cynthia A. Moore, MD, PhD 
Centers for Disease Control and 
Prevention 

John Williams III, MD 
American College of Obstetricians 
and Gynecologists 

Section Liaison 

H. Eugene Hoyme, MD 
Section on Genetics 
Consultants 

Marilyn J. Bull, MD 
William I. Cohen, MD 
Franklin Desposito, MD 
Beth A. Pletcher, MD 
Nancy Roizen, MD 
Rebecca Wappner, MD 

Staff 

Lauri A. Hall 

REFERENCES 

1. American Academy of Pediatrics Committee on Genetics. Health supervision for children with Down syndrome. Pediatrics. 1994;93:855859 
2. Cohen WI. Health care guidelines for individuals with Down syndrome 
(Down syndrome preventive medical checklist). Down Syndrome Q. 
1996;1:110 
3. Cooley WC, Graham JM Jr. Down syndrome: an update and review for 
the primary pediatrician. Clin Pediatr (Phila). 1991;30:233253 
4. de la Cruz F. Medical management of mongolism or Down syndrome. 
In: Mittler P, de Jong JM, eds. Biomedical Aspects. Research to Practice in 
Mental Retardation: Fourth Congress of the International Association for the 
Scientific Study of Mental Deficiency. Vol 3. Baltimore, MD: University 
Park Press; 1977;221228 
5. Dahle AJ, McCollister FP. Hearing and otologic disorders in children 
with Down syndrome. Am J Ment Defic. 1986;90:636 642 
6. National Down Syndrome Congress. Position Statement on Sicca Cell 
Therapy. Atlanta, GA: National Down Syndrome Congress; 1989 
7. Nickel RE. Controversial therapies for young children with developmental disabilities. Infants Young Child. 1996;8:29 40 
8. National Down Syndrome Society. Position Statement on Vitamin Related 
Therapies. New York, NY: National Down Syndrome Society; 1997. 
Available at: http://www.ndss.org. Accessed June 1998 
9. National Down Syndrome Society. Position Statement on Use of Piracetam. 
New York, NY: National Down Syndrome Society; 1996. Available at: 
http://www.ndss.org. Accessed June 1998 
10. National Down Syndrome Congress. National intervention in children 
with Down syndrome. Atlanta, GA: National Down Syndrome Congress; 
1999. Available at: http://www.ndsccenter.org. Accessed November 
1999 
11. 
11. Spigelblatt L, Laine-Ammara G, Pless IB, Guyver A. The use of alternative medicine by children. Pediatrics. 1994;94(6 pt 1):811814 
12. American College of Medical Genetics. Statement on Nutritional Supplements and Piracetam for Children With Down Syndrome. Bethesda, MD: 
American College of Medical Genetics; 1996 
13. Cutler AT, Benezra-Obeiter R, Brink SJ. Thyroid function in young 
children with Down syndrome. Am J Dis Child. 1986;140:479 483 
14. Karlsson G, Gustafsson J, Hedov G, Ivarsson SA, Anneren G. Thyroid 
dysfunction in Downs syndrome: relation to age and thyroid autoimmunity. Arch Dis Child. 1998;79:242245 
15. 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: 
102110 
16. Davidson RG. Atlantoaxial instability in individuals with Down 
syndrome: a fresh look at the evidence. Pediatrics. 1988;81:857865 
17. Msall ME, Reese ME, DiGaudio K, Griswold K, Granger CV, Cooke RE. 
Symptomatic atlantoaxial instability associated with medical and rehabilitative procedures in children with Down syndrome. Pediatrics. 1990; 
85(3 pt 2):447449 
18. Pueschel SM, Findley TW, Furia J, Gallagher PL, Scola FH, Pezzullo JC. 
Atlantoaxial instability in Down syndrome: roentgenographic, neurologic, and somatosensory evoked potential studies. J Pediatr. 1987;110: 
515521 
19. Pueschel SM, Scola FH. Atlantoaxial instability in individuals with 
Down syndrome: epidemiologic, radiographic, and clinical studies. Pediatrics. 1987;80:555560 
20. Pueschel SM, Pueschel JK, eds. Biomedical Concerns in Persons With Down 
Syndrome. Baltimore, MD: Brookes Publishing; 1992 
21. de la Cruz FF, LaVeck GD, eds. Human Sexuality and the Mentally 
Retarded. New York, NY: Brunner/Mazel; 1973 
22. Jagiello G. Reproduction in Down syndrome. In: de la Cruz FF, Gerald 
PS, eds. Trisomy 21 (Down Syndrome): Research Perspectives. Baltimore, 
MD: University Park Press; 1981;151162 
23. Fenner ME, Hewitt KE, Torpy DM. Downs syndrome: intellectual 
behavioural functioning during adulthood. J Ment Defic Res. 1987;31(pt 
3):241249 
BIBLIOGRAPHY AND RESOURCES FOR NEW 
PARENTS 
Bibliography 

Cairo S, Cairo J, Cairo T. Our Brother Has Downs Syndrome: An Introduction 
for Children. Toronto, Ontario: Annick Press Ltd; 1985 

Hanson MJ. Teaching the Infant With Down Syndrome: A Guide for Parents and 
Professionals. 2nd ed. Austin, TX: Pro-Ed; 1987 

Pueschel SM. A parents guide to Down syndrome. Baltimore, MD: Brookes 
Publishing; 1990 

Stray-Gunderson K. Babies With Down Syndrome: A New Parents Guide. 
Kensington, MD: Woodbine House; 1986 (English and Spanish editions) 

Resources 

March of Dimes, Birth Defects Foundation, 1275 Mamaroneck Ave, White 
Plains, NY 10605; Telephone: 914/4287100 

National Down Syndrome Congress, 1605 Chantilly Dr, Suite 250, Atlanta, 
GA 30324; Telephone: 404/6331555 or 800/2326372 

National Down Syndrome Society, 666 Broadway, New York, NY 10012; 
Telephone: 212/4609330 or 800/2214602 

AMERICAN ACADEMY OF PEDIATRICS 449 


