Peds 2022057010

CLINICAL REPORT Guidance for the Clinician in Rendering Pediatric Care
Health Supervision for Children and

Adolescents With Down Syndrome
Marilyn J. Bull, MD, FAAP,a Tracy Trotter, MD, FAAP,b Stephanie L. Santoro, MD, FAAP,c Celanie Christensen, MD, MS, FAAP,a
Randall W. Grout, MD, MS, FAAP,d THE COUNCIL ON GENETICS
This clinical report is designed to assist the pediatrician in caring for a

Department of Pediatrics, Division of Developmental Medicine, Indiana
the child, adolescent, and family in whom a diagnosis of Down University School of Medicine, Riley Hospital for Children, Indianapolis,
Indiana; bSan Ramon Valley Primary Care Medical Group, San Ramon,
syndrome has been confirmed by chromosome analysis or suspected by California; cDepartment of Pediatrics, Division of Medical Genetics and
prenatal screening. Although a pediatrician’s initial contact with the Metabolism, Massachusetts General Hospital, Boston, Massachusetts;
child is usually during infancy, occasionally the pregnant woman who and dDivision of Children's Health Services Research, Department of
Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana
has been given a prenatal diagnosis of Down syndrome will be referred
for review of the condition and genetic counseling; this report offers Drs Bull, Trotter, Santoro, Christensen, and Grout were directly
involved in the planning, researching, and writing of this report,
guidance for this situation, as well. Age-specific guidance for the approved the final manuscript as submitted, and agree to be
clinician is provided in Supplemental Fig 1. accountable for all aspects of the work.
This document is copyrighted and is property of the American
Pediatricians play an important role in the care of children and Academy of Pediatrics and its Board of Directors. All authors have
filed conflict of interest statements with the American Academy of
adolescents with Down syndrome and their families. Down syndrome is Pediatrics. Any conflicts have been resolved through a process
the most common chromosomal cause of intellectual disability, and approved by the board of directors. The American Academy of
Pediatrics has neither solicited nor accepted any commercial
there has been a significant improvement in quality of life for affected involvement in the development of the content of this publication.
people. Awareness of the issues important to affected children, The guidance in this report does not indicate an exclusive course
adolescents, and their caregivers can make a great difference in of treatment or serve as a standard of medical care. Variations,
taking into account individual circumstances, may be appropriate.
outcomes across the lifespan.
All clinical reports from the American Academy of Pediatrics
automatically expire 5 years after publication unless reaffirmed,
Children with Down syndrome may have many cooccurring medical revised, or retired at or before that time.
conditions and cognitive impairment because of the presence of extra DOI: https://doi.org/10.1542/peds.2022-057010
genetic material from chromosome 21 (Table 1).1,2 Although the phenotype Address correspondence to Marilyn J. Bull, MD, FAAP. E-mail: mbull@iu.edu
is variable, there typically are multiple features that enable the experienced PEDIATRICS (ISSN Numbers: Print, 0031-4005; Online, 1098-4275).
clinician to suspect the diagnosis. Among the more common physical Copyright © 2022 by the American Academy of Pediatrics
findings are hypotonia, small brachycephalic head, epicanthal 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, short fifth finger with clinodactyly, and wide spacing
between the first and second toes, often with a deep plantar groove. The
degree of cognitive impairment is variable and may be mild (IQ of 50–70),
usually is moderate (IQ of 35–50), or occasionally is severe (IQ of 20–35).
To cite: Bull MJ, Trotter T, Santoro SL, et al; AAP Council on
Genetics. Health Supervision for Children and Adolescents
Medical conditions common in children with Down syndrome include With Down Syndrome. Pediatrics. 2022;149(5):e2022057010
hearing loss (75%), obstructive sleep apnea (50%–79%), otitis media
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TABLE 1 Medical Problems Common in Down Syndrome and therapy through early
Condition % adulthood.
Hearing problems 75
In 96% of children with Down
Vision problems 60–80
Nystagmus 3–33 syndrome, the condition is sporadic
Glaucoma <1–7 because of nonfamilial trisomy 21,
Nasolacrimal duct occlusion 3–36 in which there are 47 chromosomes
Cataracts 3
with the presence of a free extra
Strabismus 36
Refractive errors 36–80 chromosome 21. In 3% to 4% of
Keratoconus 1–13 people with the Down syndrome
Obstructive sleep apnea 50–79 phenotype, the extra chromosomal
Otitis media with effusion 50–70 material is the result of an
Congenital heart disease 40–50
Feeding difficulty 31–80
unbalanced translocation between
Respiratory infection 20–36 chromosome 21 and another
Dermatologic problems 56 acrocentric chromosome, usually
Hypodontia and delayed dental eruption 23 chromosome 14 or 21.
Congenital hypothyroidism 2–7
Approximately three-quarters of
Antithyroid antibody positive (Hashimoto 13–39
thyroiditis; incidence dependent on age) these unbalanced translocations are
Hyperthyroidism 0.65–3 de novo, and the remainder result
Thyroid disease by adulthood 50 from translocation inherited from a
Gastrointestinal atresias 12
parent. If the child has a
Seizures 1–13
Hematologic problems translocation, the parents should be
Anemia 1.2 offered a karyotype to determine
Iron deficiency 6.7 whether the translocation is familial
Transient abnormal myelopoiesis 10 or de novo. In the remaining 1% to
Leukemia 1
Autoimmune conditions
2% of people with the Down
Hashimoto thyroiditis 13–39 syndrome phenotype, a mix of 2 cell
Graves’ disease 1 lines is present: 1 normal and the
Celiac disease 1–5 other with trisomy 21. This
Type 1 diabetes 1
condition is called mosaicism.
Juvenile idiopathic arthritis <1
Alopecia 5 People with mosaicism may be more
Symptomatic atlantoaxial instability 1–2 mildly affected than people with
Autism 7–19 complete trisomy 21 or
Hirschsprung disease <1 translocation chromosome 21, but
Moyamoya disease Down syndrome 26 times greater in patients
with Moyamoya than Down syndrome in live births this is not always the case, and their
condition may include any of the
associated medical problems and
may be indistinguishable from
(50%–70%), eye problems diseases,2,8–10 including Hashimoto trisomy 21. The chance of
(60%–80%), including cataracts thyroiditis (13%–39%), with recurrence for families with an
(<1%–3%),3 nasolacrimal duct incidence dependent on age, celiac affected child depends on many
obstruction (3%–36%), and disease (1%–5%), Hirschsprung factors and vary greatly, from 1% in
strabismus and severe refractive disease (<1%),3 and autism most families to 100% in some
errors (36%–80%), congenital heart (7%–19%).11,12 circumstances. Table 2 describes the
defects (50%), neurologic different chromosomal
dysfunction (1%–13%), People with Down syndrome often characteristics of Down syndrome.
gastrointestinal atresia (12%), hip function more effectively in social
dislocation and hip abnormalities situations than would be predicted Formal counseling by a clinical
(2%–8%),4,5 symptomatic based on cognitive assessment geneticist or genetic counselor is
atlantoaxial instability (1%–2%),6,7 results, unless there is presence of recommended for all families.
thyroid disease (24%–50%)2,8 and, cooccurring autism. Although the
less commonly, transient abnormal level of social–emotional functioning Several areas require ongoing
myelopoiesis (4%–10%) and later may vary, these skills may be assessment throughout childhood
leukemia (1%), autoimmune improved with early intervention and should be reviewed at every
2 FROM THE AMERICAN ACADEMY OF PEDIATRICS

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TABLE 2 Chromosomal Basis of Down Syndrome screening, which incorporates
Percentage Chromosomal Basis maternal age, nuchal translucency
ultrasonography, and measurement
96 Meiotic nondisjunction (95% occur in egg, with recurrence risk of 1% until
mother’s age risk exceeds 1% at age 40, and it then increases according to of maternal serum b human
maternal age) chorionic gonadotropin and
3–4 Translocation (usually occurs with 1 chromosome 21 attached to chromosome 14, pregnancy-associated plasma
21, or 22) protein A. Second-trimester
14/21 translocation (1/3 of patients have a parent carrier with balanced karyotype)
screening is available for patients
90% have mother as the carrier parent, with a recurrence chance of 10%–15%
10% have father as the carrier, with a recurrence chance of 2%–5% who first seek medical care in the
21/21 translocation (1/14 of patients have parent carrier with a balanced second trimester or in locations
karyotype); carrier parent equally likely mother or father, with recurrence where first-trimester screening is
chance of 100%13 not available. The second-trimester
1–2 Mosaicism: number of affected cells vary between individuals; clinical findings vary
serum screening, often called the
widely
Medical complications fewer and intellectual disability often less severe quad screen, incorporates maternal
Partial trisomy: duplication of delimited segment of chromosome 21 present; extremely rare age risk with measurement of
Adapted from Bull MJ. Down syndrome.14 maternal serum b human chorionic
Information regarding meiotic nondisjunction and translocation is from Hook,13 information regarding mosaicism is gonadotropin, unconjugated estriol,
from Papavassiliou et al,15 and information regarding partial trisomy is from Pelleri et al.16
a-fetoprotein, and inhibin
concentrations. The detection rate of
Down syndrome by first-trimester
health supervision visit and at least levels of sensitivity and specificity. No
screening is 82% to 87%, by second
annually. These areas include: 1 screening test is superior to other
trimester screening is 80%, and by
screening tests in all characteristics.
combined first- and second-
personal support available to In recent years, noninvasive prenatal
trimester screening (referred to as
family; testing by cell-free DNA (cfDNA) has
integrated screening) is 95%.
participation in a family-centered become available and is the most
These screening tests are reported
medical home; sensitive method for screening for
to have a 5% false-positive rate.21–24
age-specific Down syndrome- Down syndrome. cfDNA screening for
related medical and developmen- Down syndrome is significantly more Ultrasonography is an additional
tal conditions; sensitive and specific than screening tool for Down syndrome
financial and medical support conventional screening methods, with because structural changes,
programs and long-term financial a 2017 meta-analysis reporting a including congenital heart defects,
planning for which the child and detection rate of 99.7%, with a false- increased nuchal skin fold, “double
family may be eligible; positive rate of 0.04% in singleton bubble” sign suggestive of duodenal
injury and abuse prevention, pregnancies.19 cfDNA uses a maternal atresia, ventriculomegaly, and
with special consideration of blood sample to analyze free-floating short–long bones, may be identified
developmental skills and intellec- small fragments of DNA from the by prenatal imaging. Although
tual ability; and placenta. Because cfDNA is from the ultrasonography is an additional
nutrition and activity to maintain placenta and not directly from the screening tool, it is not diagnostic
appropriate weight. fetus, it is a screening test and not for Down syndrome.
diagnostic. cfDNA analysis can be
performed as early as 9 to 10 weeks’ Diagnostic testing for Down
THE PRENATAL VISIT
gestation depending on the syndrome includes CVS or
The American College of laboratory, and a high-risk result amniocentesis. CVS has the benefit
Obstetricians and Gynecologists from cfDNA would require of being performed earlier in
recommends that all pregnant confirmation by diagnostic testing pregnancy, between 10 and 14
women, regardless of age or risk with chorionic villus sampling (CVS) completed weeks’ gestation. A
status, be offered the option of or amniocentesis. Screening for placental sample is obtained either
screening and diagnostic testing for trisomy 21 by cfDNA in twin transabdominally or transcervically,
Down syndrome.17,18 pregnancies can be performed, but depending on provider preference
total number of reported cases is and placental location.
A wide variety of screening test small.20 Amniocentesis is a transabdominal
options exist in the first and second procedure to remove a sample of
trimester using maternal serum and Other screening tests for Down amniotic fluid performed after 15
ultrasonography. Each offers varying syndrome include first-trimester weeks’ gestational age. Risk for
PEDIATRICS Volume 149, number 5, May 2022 3

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procedure-related loss of pregnancy 2. Families benefit from hearing a 6. There are many issues for the
from CVS or amniocentesis is fair and balanced perspective, family learning that their child
comparable in recent studies when including the many positive will have Down syndrome to
performed by providers with outcomes of children with Down consider. These issues should be
expertise, 0.22% for amniocentesis syndrome and their effects on the discussed using a nondirective
and 0.11% for CVS.25,26 family. Families usually have approach. In cases of prenatal
questions about prognosis and diagnosis, this may include
Pediatricians may be asked to phenotypic manifestations, discussion of pregnancy
counsel a family whose fetus has including the wide range of continuation or termination,
been identified with or is at variability seen in infants and raising the child in the family,
increased chance of having Down children with Down syndrome. foster care placement, and
syndrome. Families may have a The prenatal visit is a good time adoption.28
great number of questions during to offer a connection to a peer-to- 7. The mechanism for occurrence of
any pregnancy and especially peer organization for support Down syndrome in the fetus and
when the child will have Down (see Family Resources). the potential recurrence rate for
syndrome. They may have 3. Discuss any additional studies the family, as provided by genetic
received counseling from a performed that may refine the counseling, should be shared.
certified genetic counselor, a estimation of the prognosis (eg, Discuss availability of genetic
clinical geneticist, maternal–fetal fetal echocardiography, counseling or meeting with a
medicine specialist, obstetrician, ultrasonography for genetics professional.
or developmental specialist. In gastrointestinal tract
addition, parents may have malformations). Consultation
received information and support with an appropriate medical As the pregnancy continues, the
subspecialist, such as a pediatric pediatrician may:
from a family-led organization
cardiologist or a pediatric
such as Parent to Parent USA, a
surgeon, may occur prenatally if 1. Develop a plan for delivery and
local Down syndrome group, a
abnormal findings are detected. neonatal care with the obstetrician
national Down syndrome
4. Discuss currently available and the family. As the pregnancy
organization, social media, or
treatments and interventions. progresses, additional studies
possibly an Internet site with
Families need to hear that they should be performed if available, if
inaccurate information.
are not alone and that there are recommended by medical
Pediatricians who often have a
supports and services for them subspecialists and/or if desired by
previous relationship with the
after the infant is born. Discuss the family. These studies (eg,
family may be the natural source detection of a complex heart defect
early intervention resources,
of support for and guidance in the parent-support programs, and by fetal echocardiography) may
context of the medical home. The any appropriate future help direct development of a
clinician should be prepared to treatments. management plan and improve
respond to questions, review 5. Discuss extended life expectancy outcome for the mother and
information the family has that has increased from 30 years infant.29
received, and assist in the in 1973 to 60 years in 2002. This 2. Offer parent-to-parent contact
decision-making process.27 When increase has resulted from and information about local and
asked, the pediatrician should improved medical care, national support organizations
discuss the following topics with educational options, and because communication with
the family: enhanced social adaptation. experienced parents is often a
Potential complications and very helpful resource for
1. The prenatal laboratory studies adverse effects, costs and caregiver decision-making.
and any confirmatory testing that financial supports available, and 3. Offer referral to a clinical
led to the diagnosis and any fetal other challenges associated with geneticist or genetic counselor
imaging studies that have been or comprehensive management and for a more extended discussion of
will be performed. Many families care should also be discussed. clinical outcomes and variability,
find it important to have the The pediatrician can explain that recurrence rates, future
diagnosis confirmed before they they will be supported best in the reproductive options, and
can consider what it will mean to context of a patient-centered evaluation of the risks for other
their infant and their family. medical home. family members.

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HEALTH SUPERVISION FROM BIRTH TO for a karyotype. The clinician should the mother should be allowed to
1 MONTH: NEWBORN INFANTS alert the laboratory and request recover from the immediate
It is recognized that the medical rapid results. A study that uses delivery of the infant and have
needs of newborn infants with fluorescent in situ hybridization her partner or support person
Down syndrome vary, and the (FISH) technology, in addition, present before the diagnosis is
timing of each intervention depends should be available within 24 to given;
on the infant’s needs, but that it is 48 hours, if necessary, to facilitate the information should be
important that all interventions are diagnosis and parent counseling. A relayed in a private setting by
addressed and that careful transfer FISH study, however, can only the physicians involved, opti-
of care occurs at the time of indicate that an extra copy of mally by the primary care pro-
discharge from the hospital. chromosome 21 is present and does vider for the infant and the
not determine the presence or delivering physician30; and
Examination it is recommended that hospitals
absence of a translocation.
The first step in evaluating a Therefore, a positive FISH result coordinate the delivery of the
newborn infant for trisomy 21 is a should be confirmed by a karyotype information and offer a private
careful review of the family history to identify translocations that may hospital room pending confirma-
and prenatal information, to include: have implications for further tion of the diagnosis.
reproductive counseling for the When providing information about
results of prenatal chromosome parents and possibly other family Down syndrome to families, the
studies, if performed; and members. A chromosomal physician should first congratulate
family history of previous chil- microarray analysis is not parents on the birth of their infant.
dren born with trisomy 21 or appropriate because it will not Obstetricians and pediatricians
developmental differences or differentiate trisomy 21 caused by should coordinate their messaging
pregnancies that ended in mis- nondisjunction versus an and inform parents of their
carriage. (These may be signifi- unbalanced translocation. suspicion immediately, in a private
cant clues that a family may setting, and when appropriate, with
carry a balanced translocation When delivering a diagnosis of both parents together. Physicians
that predisposes them to having Trisomy 21 (Table 3): should use their experience and
children with trisomy 21.)
TABLE 3 Communicating With Families31
For children who have had the At diagnosis, immediate advice remains pertinent regarding the need to:
diagnosis made prenatally, a formal first, congratulate the family
copy of the chromosome report have infant present; refer to infant by name
from an amniocentesis or CVS use a respectful bedside manner
time discussion after labor is complete and as soon as diagnosis is
should be obtained. This report
suspected (not necessarily confirmed)
allows the clinician to confirm the have a support person present for mother, father, and family
diagnosis, review the results with members as appropriate
the family, and add the formal use a cohesive, physician-led team approach
diagnosis to the child’s medical Helpful discussion will include:
up-to-date, accurate information
record. If the results of prenatal a balanced approach rather than relying on personal opinions and
testing are not available or if cfDNA experience
alone was performed, a sample of person-first language (ie, child with Down syndrome)32;
cord or peripheral blood should be connection to other parents and resource groups
discussion of life potentials for people with Down syndrome
obtained for postnatal karyotype to
Share with families the interplay within families and individual
confirm the diagnosis and rule out a perspectives:
chromosome translocation. individuals with Down syndrome: nearly 99% indicated that they were
happy with their lives, and 97% liked who they are and encouraged
A physical examination is the most health care professionals to value them, emphasizing that they share
sensitive test in the first 24 hours of similar hopes and dreams as people without Down syndrome33;
parents: 79% felt their outlook on life was more positive because of
life to diagnose trisomy 21 in an people with Down syndrome31;
infant. If the clinician believes that siblings: 88% felt that they were better people because of their
criteria for Down syndrome are siblings with Down syndrome33;
present on physical examination, a majority of families report unanimous feelings of love and pride
positive themes dominate modern families34
then a blood sample should be sent

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expertise in providing support and Down syndrome and provide Nonradiologic videofluoroscopic
guidance for families. Clinicians reassurance to family about this swallow studies, where available,
should ensure a balanced approach finding. may be performed for infants,
that reflects the variability and including those who are
broad range of current outcomes,
Evaluate For breastfed. Feeding function
rather than their personal opinions Heart defects (50% risk). Per- changes over infancy and early
or experience, give current printed form an echocardiogram, to be childhood, and repeat studies
materials, and offer access to other read by a pediatric cardiologist, may be indicated, especially if
families who have children with regardless of whether a fetal respiratory symptoms persist.39
Down syndrome and support echocardiogram was performed. If untreated, aspiration is an
organizations if locally available. It Refer to a pediatric cardiologist overlooked cause of recurrent
is important that clinicians be for evaluation any infant whose respiratory symptoms.40 Infants
cognizant of the realities and postnatal echocardiogram results with Down syndrome can breast-
possibilities for people with Down are abnormal.
feed successfully, but some may
syndrome to have healthy, Feeding problems. Feeding diffi-
need early support until a suc-
productive lives.30 culties including gastroesopha-
cessful nursing pattern is estab-
geal reflux and dysphagia are
lished. Some infants may sleep
The laboratory diagnosis of Down extremely common (31%–80% in
for prolonged periods and if not
syndrome should be confirmed, and Down syndrome).35,36 Dysphagia
gaining weight adequately, need
the karyotype should be reviewed can result from both oromotor
to be awakened for feeds to
with the parents when the final problems and oropharyngeal dys-
maintain adequate calorie intake.
result is available. The specific function. Hypotonia, relative mac-
Cataracts at birth by looking for
findings should be discussed with roglosia with a relatively small
a red reflex. Cataracts may pro-
both parents whenever possible, oral cavity, decreased jaw
gress slowly and, if detected,
including the potential clinical strength, and poor tongue control
require prompt evaluation and
manifestations associated with the contribute to the problems.
treatment by an ophthalmologist
syndrome. These topics should be Symptoms of feeding difficulty
with experience in managing the
reviewed again at a subsequent include slow feeding, choking
with feeds, and slow weight gain. child with Down syndrome,
meeting. Families should be offered because surgical outcomes in
referral for genetic counseling if it Up to 90% of patients with Down
syndrome who aspirate do so these cases are reassuring.41,42
was not conducted prenatally. Congenital hearing loss, with
silently without cough or overt
symptoms, and symptoms often objective testing, such as brain-
Newborn care is often provided in a
are not recognized during a clini- stem auditory evoked response
hospital setting by a physician who
cal feeding evaluation.35,37 Feed- or otoacoustic emission. If the
will not be the primary care
ing difficulty occurs with infant did not pass newborn
pediatrician. If the physician
increased frequency in all infants screening studies, refer to an oto-
providing newborn care will not be
with Down syndrome, but espe- laryngologist who is experienced
the primary care pediatrician, he or
cially those who are born pre- in examining infants with ste-
she should ensure that there is a
term, have marked hypotonia, notic external canals to deter-
smooth transition by transferring
are underweight, or have desatu- mine whether a middle-ear
medical records and ensuring that
ration with feeds. Infants who abnormality is present. Tympan-
an early newborn follow-up
(1) have marked hypotonia as ometry may be necessary if the
appointment is scheduled.
judged by the pediatrician, (2) tympanic membrane is poorly
Characteristics attributable to Down are underweight, (3) have slow visualized.42,43 Refer to early
syndrome, as well as those that are feeds, (4) have choking with intervention within 48 hours of
familial, should be discussed. feeds, (5) have recurrent or per- confirmation that the infant is
sistent respiratory symptoms, or deaf or hard of hearing.43,44
Discuss and Review (6) desaturate with feeds should Duodenal atresia or anorectal
Hypotonia. be referred promptly for skilled atresia/stenosis by obtaining a
Facial appearance and acknowl- feeding assessment or possible history and performing a clinical
edge the presence of familial video feeding study.37,38 Video examination.
characteristics. feeding studies can be helpful for Evaluation for apnea, bradycar-
Cutis marmorata; explain that determining which infants dia, or oxygen desaturation
this is common in infants with require intervention. should occur with the infant in a

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car safety seat, because all hepatosplenomegaly, jaundice, or requires regular follow-up with
infants with Down syndrome are rash.46,47 Although leukocytosis blood counts until resolution.
at increased risk attributable to or TAM usually regresses sponta- Congenital hypothyroidism
hypotonia, upper airway obstruc- neously within the first 3 months (2%–7% risk).8,50 Obtain thy-
tion, or having had cardiac sur- of life, infants with TAM may roid-stimulating hormone (TSH)
gery. A car safety seat screen require chemotherapy and are at concentration if state’s newborn
should be conducted before risk for death in the first 6 screening measures only free
hospital discharge.45 months of life (up to 20%), and thyroxine (T4); congenital hypo-
Constipation. If constipation is have an increased risk of acute thyroidism can be missed if only
present, evaluate for restricted myeloid leukemia in the first 4 the T4 concentration is obtained
diet or limited fluid intake, hypo- years of life (30%). All infants in the newborn screening. Many
tonia, hypothyroidism, or gastro- with Down syndrome and TAM children with Down syndrome
intestinal tract malformation, should be evaluated by pediatric (25%–60%) have mildly elevated
including stenosis or Hirsch- hematology/oncology as soon as TSH and normal free T4 concen-
sprung disease, for which there they are diagnosed. Numerous tration (subclinical hypothyroid-
is an increased risk. Review the hematologic abnormalities other ism), and hyperthyroidism occurs
timing of the passing of meco- than >10% blasts are commonly in 0.65% to 3%.51 Elevated anti-
nium because a delay may indi- reported in newborn infants with thyroid antibodies occur fre-
cate Hirschsprung disease and trisomy 21, including neutro- quently and, when present,
other considerations. philia (80%), thrombocytopenia increase the risk of later hypo-
Gastroesophageal reflux, which is (66%), and thrombocytosis, thyroidism.50 By late childhood,
usually diagnosed and managed which generally resolve in the the incidence of thyroid abnor-
clinically. If contributing to car- first week of life, whereas macro- mality is 50%.8,50 Management of
diorespiratory problems or fail- cytosis is also common but often children with abnormal TSH or
ure to thrive, refer for does not resolve.48 Infants with T4 concentrations should be dis-
subspecialty intervention. numeric abnormalities other than cussed with a pediatric
Stridor, wheezing, or noisy macrocytosis that persist after endocrinologist.
breathing. If contributing to car- the first week of life should be
diorespiratory problems or feed- referred to a hematologist. Leu- Anticipatory Guidance Given
ing difficulty, refer to an kemia is more common in chil- Between Birth and 1 Month of Age
otolaryngologist, pediatric pul- dren with Down syndrome than Discuss the strengths of the child
monologist, or aerodigestive pro- in the general population but is and positive family experiences.
gram to assess for airway still rare (1%).49 Discuss the individual resources
anomalies. Small nasal passages Caregivers of infants with TAM for support, such as family, reli-
and nasal congestion often con- should be counseled regarding gion, and friends.
tribute to stridor. Tracheal anom- the risk of leukemia and made Talk about how and what to tell
alies and small tracheal size may aware of the signs, including easy siblings, other family members,
also make intubation more diffi- bruising, recurring fevers, bone and friends. Review methods of
cult. Hypotonia and small tra- pain, easy bruising or bleeding, coping with long-term disabilities
cheal size also increase the risk petechiae, onset of lethargy, or (see “Resources for Families”).
of recurrent episodes of croup. change in feeding patterns. Discuss efficacy of early interven-
Hematologic abnormalities. Although leukemia is rare, chil- tion and availability of early
Obtain a complete blood cell dren with Down syndrome are at intervention services and thera-
count with differential by 3 days increased risk to develop both pies in the community. Initiate
of age to evaluate for transient acute lymphoblastic leukemia referral for speech, fine motor, or
abnormal myelopoiesis (TAM) and acute myeloid leukemia, gross motor therapies, unless
(formerly called transient myelo- even without a history of TAM as medically contraindicated.
proliferative disorder), polycy- a newborn infant. Encourage families to participate
themia, and other hematologic Polycythemia. Unrelated to con- in selection of therapies and
abnormalities. Leukocytosis or genital heart disease, polycythe- therapists. Counsel families to
TAM is relatively common in this mia is common in the first week share their impressions of their
population (9%) and can present of life in Down syndrome (33%) infant’s strengths and progress
with pericardial and pleural effu- and may persist for several with therapists and to actively
sions, but can be silent without months. Persistent polycythemia participate in therapy sessions.

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Share information for local Down supplements in their children, disease should be treated imme-
syndrome family and support and 20% report they have not diately when diagnosed. As soon
groups, current books and pam- informed their pediatrician, usu- as a clear ear is established, a
phlets, and referrals for commu- ally because they have not been diagnostic BAER should be per-
nity and financial resources (see asked.54 Several articles and formed to accurately establish
Resources for Families). websites provide useful informa- hearing status.
Discuss increased susceptibility tion for clinicians and In children with stenotic canals
to respiratory tract infection. families.54–55 in which the tympanic mem-
Children with signs and symp- Renal and urinary tract anoma- branes cannot be seen, refer to
toms of lower respiratory tract lies have been reported to occur an otolaryngologist as soon as
infection should be evaluated at increased frequency among possible for examination under
acutely by a medical provider, people with Down syndrome.56 an office microscope. Interval ear
and in the presence of cardiac or Although routine postnatal examinations should be per-
chronic respiratory disease, screening for renal anomalies is formed by the otolaryngologist
prompt diagnosis and treatment not currently recommended, if every 3 to 6 months until the
should be instituted.40,52 renal abnormalities are detected tympanic membrane can be visu-
Children with cooccurring condi- on prenatal ultrasonography, alized by the pediatrician and
tions including qualifying congen- standard assessment would be tympanometry can be performed
ital heart disease, airway required. reliably.43
clearance issues, or prematurity A behavioral audiogram may be
(born at <29 weeks, 0 days’ ges- HEALTH SUPERVISION FROM 1 MONTH attempted at 1 year of age, but
tation) may be considered for TO 1 YEAR: INFANCY many children will not be able to
administration of respiratory complete the study. If unable to
syncytial virus prophylaxis.53 Physical Examination and complete a behavioral audio-
Discuss with families the impor- Laboratory Studies gram, additional testing by BAER
tance of cervical spine-position- Follow Bright Futures schedule or should be performed at 1 year.
ing precautions to avoid more frequently if indicated. Ear anomalies also place child at
excessive extension or flexion risk for sensorineural hearing
during any anesthetic, surgical, Obtain a history and perform a loss and vestibular problems that
or radiographic procedure. physical examination. may affect balance, making the
Using the previously obtained Monitor weight and follow thorough audiologic assessment
karyotype, review the chance of weight-for-length trends at each additionally important.59–61
recurrence in subsequent preg- health care visit. Review the Within the first 6 months of life,
nancies and the availability of infant’s growth and plot it on the refer to a pediatric ophthalmolo-
prenatal testing options, as dis- Down syndrome-specific charts gist or ophthalmologist with
cussed in previous genetic for weight, length, weight for expertise and experience with
counseling. length, and head circumference infants with disabilities to evalu-
Discuss treatments that are con- (available at www.cdc.gov).57,58 ate for strabismus, cataracts,
sidered complementary or alter- Review feeding at every health nasolacrimal duct obstruction,
native. Families need an supervision visit, ensure ade- refractive errors, glaucoma, and
opportunity to learn objectively quate iron intake, and inquire nystagmus.16,62–64
which therapies are safe and about any changes in respiratory Check the infant’s vision at each
which are potentially dangerous symptoms with feeding (see visit and use developmentally
(eg, cell therapy that may trans- “Health Supervision From Birth appropriate subjective and objec-
mit slow viruses and high doses to 1 Month” for discussion). tive criteria. If lacrimal duct
of fat-soluble vitamins that can Review the previous hearing obstruction is present, refer for
cause toxicity). evaluation (brainstem auditory evaluation for surgical repair of
Determine whether the child evoked response [BAER] or otoa- drainage system if not resolved
receives supplements, herbs, coustic emission). If the infant by 9 to 12 months of age.65
teas, or other treatments or sup- passed the newborn screening Verify results of newborn thy-
plements not previously dis- study, rescreen at 6 months of roid-function screen if not previ-
cussed. Approximately 38% of age for confirmation. ously reviewed. Because of
parents of children with Down Risk of otitis media with effusion increased risk of acquired thy-
syndrome report using dietary is 50% to 75%.43 Middle-ear roid disease, repeat

by guest
measurement of TSH at 6 and 12 volume, is present in up to one- consult with neurology as needed
months of age and then annually third of patients with Down for signs of neurologic dysfunc-
(see Health Supervision From syndrome.69 Thus, a low mean tion that may occur. Children
Birth to 1 Month for discussion). corpuscular volume is not a useful with Down syndrome have an
Monitor infants with cardiac screen for the diagnoses of iron increased risk of seizures, includ-
defects at all well-child visits, deficiency/insufficiency, lead ing infantile spasms
typically ventricular or atrioven- toxicity, or thalassemia in children (1%–13%)74,75 and other condi-
tricular septal defects that cause with Down syndrome. Screening by tions, including moyamoya dis-
intracardiac left-to-right shunts, hemoglobin concentration ease76,77 and benign movement
for symptoms and signs of con- identifies iron deficiency anemia disorders such as shuddering.
gestive heart failure as pulmo- but misses iron deficiency/iron Administer immunizations,
nary vascular resistance insufficiency. Using the CBC including influenza vaccine,
decreases and pulmonary blood parameter of an elevated relative respiratory syncytial virus vac-
flow increases. Tachypnea, feed- distribution width with ferritin or cine for infants with cooccurring
ing difficulties, and poor weight transferrin saturation or serum qualifying conditions, and other
gain may indicate heart failure. iron divided by TIBC leads to 100% vaccines recommended for all
Medical management, including sensitivity in identifying iron children, unless there are specific
nutritional support, may be insufficiency, iron deficiency, or contraindications.78
required until the infant is in anemia. Serum ferritin Assess for dermatologic findings
optimal condition to undergo car- concentration is an acute-phase and advise parents that xerosis
diac surgery to repair the defects reactant and is not useful if (dry skin) and cutis marmorata
to limit the potential for develop- inflammation is present or CRP is are common.
ment of pulmonary hypertension elevated: subsequent evaluation At least once during the first
and associated complications.66 with iron concentration and TIBC 6 months of life, discuss with
Infants and children with Down may be needed to confirm family symptoms of obstructive
syndrome are also at increased diagnosis. sleep apnea, including heavy
risk of pulmonary hypertension breathing, snoring, uncommon
even in the absence of intracar- Although not unique to children sleep positions, frequent night
diac structural defects. Close with Down syndrome, low ferri- awakening, daytime sleepiness,
coordination of care between the tin is also associated with sleep apneic pauses, and behavior
primary care physician and the problems, and iron deficiency problems that could be associ-
subspecialist is important for may be considered in differen- ated with poor sleep. Refer to a
these infants. tials for children with sleep diffi- physician with expertise in pedi-
Anemia/iron deficiency: Obtain a culty.70 A physician may atric sleep disorders for examina-
complete blood cell count (CBC) prescribe iron supplementation tion and further evaluation of a
with differential and either (1) a for children with sleep problems possible sleep disorder if any of
combination of ferritin and C- and a ferritin concentration the previously mentioned symp-
reactive protein (CRP), or (2) a <50 mg/L.70,71 toms occur.79,80
combination of serum iron and Pediatricians should be alert to At each well-child visit, discuss
total iron-binding capacity the signs and symptoms of leuke- with parents the importance of
(TIBC), beginning at 1 year of mia discussed in Health Supervi- maintaining the cervical spine in
age and annually thereafter. sion From Birth to 1 Month and a neutral position during any
obtain an extra CBC with differ- anesthetic, surgical, or radio-
Children with Down syndrome ential if symptoms occur. graphic procedure to minimize
have been shown to have a similar Children with Down syndrome the risk of spinal cord injury and
risk for iron-deficiency anemia as who develop acute leukemia can review the signs and symptoms
the typical population, but it may be treated successfully with simi- of myelopathy, which include
be missed because of lar acute lymphocytic leukemia asymmetry of movement, weak-
macrocytosis.67 Iron insufficiency therapy or de-intensified acute ness, and, on examination,
may precede iron-deficiency myeloid leukemia chemotherapy increased deep tendon reflexes.
anemia and also can have long- regimens with outcomes superior Obtain history and carefully per-
term neurologic effects. 67,68 to other children.72,73 form a physical examination, pay-
Macrocytosis, with increased Assess with complete neurologic ing attention for myelopathic
erythrocyte mean corpuscular history and examination and signs and symptoms.

by guest
Anticipatory Guidance From 1 Month for weight, length, weight for changes that could be a sign of
to 1 Year length <2 years of age, BMI for testicular cancer. Although there
Review availability of resources, age 2 to 10 years, and head cir- is not clear evidence that screen-
including Down syndrome sup- cumference (available at www. ing is beneficial, the physician
port groups and organizations cdc.gov).58 may recommend routine screen-
that help with navigation of com- Ask about changes in feeding or ing for testicular cancer by a
munity and financial resources, any changes in respiratory symp- trusted adult.84
at least once in the first year of toms with feeding and ensure Review the risk of hearing loss
life (see Resources for Families). adequate iron intake (see Health associated with otitis media with
Assess the emotional status of Supervision From Birth to 1 effusion.
caregivers and intrafamilial rela- Month for discussion). – For a child who passed
tionships at each well-child visit. Anemia/iron deficiency: Obtain a diagnostic hearing testing,
Share information for support, CBC with differential and either behavioral audiogram and
including respite care and care- (1) a combination of ferritin and tympanometry should be
giver counseling, as desired. CRP, or (2) a combination of performed every 6 months until
Inquire about how siblings are serum iron and TIBC, beginning normal hearing levels are
adjusting to the new baby and at 1 year of age and annually established bilaterally by ear-
offer education to support the thereafter69 (see “Health Supervi- specific testing (usually after
siblings as needed. sion From 1 Month to 1 Year” for 4 years of age).
Review connection to early inter- discussion). – Subsequently, behavioral
vention services and their relation- Low ferritin is also associated hearing tests should be
ship to the strengths and needs of with sleep problems, particularly performed annually. If normal
the infant and family at each well- restless leg syndrome, and iron hearing is not established by
child visit. Ensure that the family deficiency may be considered in behavioral testing, additional
knows how to implement early the differential diagnosis for chil- screening by otoacoustic
intervention therapy recommenda- dren with sleep difficulty.70 A emissions or diagnostic BAER
tions on a daily basis. physician may prescribe iron should be performed, with
Review the family’s understanding supplementation for children sedation if necessary.
of the chance of recurrence of with restless sleep and a ferritin – Children who demonstrate
Down syndrome and the availabil- concentration <50 mg/L.70,71 hearing loss should be referred
ity of prenatal diagnosis and/or Solid tumors: In contrast to the to an otolaryngologist who is
screening at least once in the first increased risk of leukemia, com- comfortable with the
year of life, and more often if pared with the general popula- examination of children with
judged necessary by the clinician. tion, the overall risk for solid stenotic ear canals. The risk of
Offer referral for genetic counsel- tumors is not increased in Down otitis media with effusion
ing if desired by the family. syndrome. Although rare, solid between 3 and 5 years of age is
Be prepared to discuss and tumors may occur, and clinicians 50% to 70%. If middle ear
answer questions about treat- should remain alert to this possi- disease occurs, obtain
ments that are considered com- bility.81 Some are very rare developmentally appropriate
plementary and alternative at (breast cancers, neuroblastoma, hearing evaluation after
each well-child visit. and medulloblastoma), and some treatment.
do not differ significantly from – Discuss with caregivers the
HEALTH SUPERVISION FROM 1 TO the general population (gastric, importance of optimal hearing
5 YEARS: EARLY CHILDHOOD colon, and ovarian cancers and for speech development and
Follow Bright Futures schedule or gliomas).82 Importantly, testicu- learning.
more frequently if indicated. lar cancer is the only solid tumor Check the child’s vision, and use
that is more common in Down developmentally appropriate
Obtain a history and perform a syndrome.83 Clinicians should subjective and objective criteria,
physical examination. palpate the testes during routine including photoscreening if avail-
Monitor weight and follow health supervision examinations able, at each well-child visit.85
weight-for-height trends at each for any changes, including devel- Refer the child with abnormal
health care visit. Review the opment of a lump or swelling. findings on photoscreening or
infant’s growth and plot it on the Patients with Down syndrome annually if photoscreening is not
Down syndrome-specific charts may not recognize testicular available to a pediatric

by guest
ophthalmologist or ophthalmolo- cervical spine in asymptomatic (see Health Supervision From
gist with special expertise and children is not recommended. Birth to 1 Month for discussion).
experience with children with Current evidence does not sup- Measure TSH every 6 months if
disabilities. Children with Down port performing routine screen- antithyroid antibodies were pre-
syndrome have a 50% risk of ing radiographs for assessment viously detected.
refractive errors that lead to of potential atlantoaxial instabil- For children on a diet that con-
amblyopia between 3 and 5 years ity in asymptomatic tains gluten, review for symp-
of age. Addressing refractive children.7,90–93 toms potentially related to celiac
errors and strabismus at an early Special Olympics requires docu- disease at each health supervi-
age can help prevent amblyopia mentation of physical examina- sion visit because children with
and encourage normal visual tion of all athletes for Down syndrome are at increased
development.63,85,86 participation in sports.94 risk. These symptoms include
Atlantoaxial instability: Discuss diarrhea or protracted constipa-
with parents, at least biennially, The Child With Symptoms of
tion, slow growth, unexplained
the importance of cervical spine-
Possible Atlantoaxial Instability
failure to thrive, anemia, abdomi-
positioning precautions for pro- Any child who has significant
nal pain or bloating, or refractory
tection of the cervical spine dur- neck pain, radicular pain, weak-
developmental or behavioral
ing any anesthetic, surgical, or ness, spasticity or change in tone,
problems.97–99 For those with
radiographic procedure. Perform gait difficulties, hyperreflexia,
symptoms, obtain a tissue trans-
careful history and physical change in bowel or bladder func-
glutaminase immunoglobulin A
examination with attention to tion, or other signs or symptoms
(TTG IgA) concentration and
myelopathic signs and symptoms of myelopathy must undergo
simultaneous quantitative IgA.
at every well-child visit or when plain cervical spine radiography
The quantitative IgA is impor-
symptoms possibly attributable in the neutral position.95 If signif-
tant, because an IgA deficiency
to spinal cord impingement are icant radiographic abnormalities
renders the TTG IgA unreliable.
reported. Parents should also be are present in the neutral posi-
tion, no further radiographs Refer patients with abnormal
instructed to contact their physi- laboratory values for specialty
cian for new onset of symptoms should be taken and the patient
should be referred as quickly as assessment. Do not institute a
of change in gait or use of arms gluten-free diet before confirma-
or hands, change in bowel or possible to a pediatric neurosur-
geon or pediatric orthopedic sur- tion of the diagnosis, because
bladder function, neck pain, stiff
geon with expertise in evaluating lack of gluten can make interpre-
neck, head tilt, torticollis, how
and treating atlantoaxial instabil- tation of endoscopic results diffi-
the child positions his or her
ity. If no significant radiographic cult. There is no evidence that
head, change in general function,
abnormalities are present, flexion routine screening of asymptom-
or weakness.
and extension radiographs may atic individuals would be benefi-
The Child Without Symptoms of be obtained in collaboration with cial. There are neither data nor
Atlantoaxial Instability the subspecialist before the consensus that would indicate
Children with Down syndrome patient is promptly whether patients with persistent
are at slightly increased risk of referred.92,93,95 symptoms who had normal labo-
symptomatic atlantoaxial sublux- Discuss with caregivers that ratory values on initial evaluation
ation.6,7 However, the child trampoline use should be should have further laboratory
<3 years does not have adequate avoided by all children, with or tests.
vertebral mineralization and without Down syndrome, unless Discuss symptoms of sleep-disor-
epiphyseal development for accu- part of a structured training pro- dered breathing, including heavy
rate radiographic evaluation of gram with appropriate supervi- breathing, snoring, restless sleep,
the cervical spine.87 Plain radio- sion and safety measures in uncommon sleep positions, fre-
graphs do not predict well which place.96 Parents can be advised quent night awakening, daytime
children are at increased risk of that participation in contact sleepiness, apneic pauses, and
developing spine problems, and sports, such as football, soccer, behavior problems that could be
normal radiographs do not pro- and gymnastics, places children associated with poor sleep at
vide assurance that a child will at risk for spinal cord injury.97 each well-child visit. There is
not develop spine problems Measure TSH annually or sooner poor correlation between nega-
later.88,89 For these reasons, rou- if child has symptoms that could tive parent-report of symptoms
tine radiologic evaluation of the be related to thyroid dysfunction and polysomnogram results.80,100

by guest
Therefore, referral to a pediatric children who may have autism expressive language skills, as
sleep laboratory for a sleep study spectrum disorder, attention-def- well as cognitive skills in chil-
or polysomnogram for all chil- icit/hyperactivity disorder, or dren with a dual diagnosis.105
dren with Down syndrome other psychiatric or behavioral Given these differences, specialty
between ages 3 and 4 years is problems for appropriate evalua- evaluation is needed to make an
recommended. Refer to a physi- tion and intervention as soon as appropriate diagnosis of autism
cian with expertise in pediatric suspected.104 Autism and other spectrum disorder in children
sleep any child with signs or behavioral problems occur with with Down syndrome. The pedia-
symptoms of obstructive sleep increased frequency in children trician should screen all children
apnea or abnormal sleep-study with Down syndrome, and symp- with Down syndrome for autism,
results. Children who have toms may manifest as early as 2 as they would other children,
adenotonsillectomy for treatment or 3 years of age.11,12,105–107 between 18 and 24 months of
of obstructive sleep apnea should age, and refer those with a con-
have a repeat polysomnogram – A variety of screening tools cerning screen for specialty eval-
after surgical intervention, have been used to identify uation.111 It is important to avoid
because there is significant inci- children who may have a assuming symptoms of autism
dence of persistent air obstruc- dual diagnosis of Down syn- are the known delays related to
tion that requires additional drome with autism spectrum Down syndrome, referred to as
evaluation and interven- disorder, although none have overshadowing. Referral as soon
tion.101,102 It is recognized that been studied in a large popu- as an autism diagnosis is sus-
access to a pediatric sleep labora- lation. Examples (not an pected is critical, because early
tory or specialist may be limited exhaustive list) include the treatment is important in all chil-
for some populations and geo- Childhood Autism Rating dren with autism spectrum disor-
graphic areas. Scale, the Social Communica- der, including those with Down
Discuss obesity as a risk factor tion Questionnaire, the Aber- syndrome.
for sleep apnea.103 rant Behavior Checklist, and Inquire about symptoms of neu-
Recognize that sleep disturbance the Autism Behavior rologic dysfunction, including
is extremely distressful to fami- Checklist.11,12,108,109 seizures, and perform a neuro-
lies. Low ferritin is also associ- logic examination. Pediatricians
ated with sleep problems, The diagnosis of autism spectrum should be aware of symptoms
particularly restless leg syn- disorder in children with Down referred to as “acute regression
drome, and iron deficiency may syndrome is often delayed, in Down syndrome,” “catatonia,”
be considered in the differential because presentation can be sub- or “disintegrative disorder”
diagnosis for children with sleep tly different from children with occurring in late childhood, ado-
difficulty.70 A physician may elect idiopathic autism spectrum disor- lescence, or early adulthood.
to prescribe iron supplementa- der. Children with Down syn- Patients who experience loss of
tion for children with restless drome and autism spectrum skills, marked mood changes, or
sleep and a ferritin concentration disorder have better imitation, catatonia, or who develop repeti-
<50 mg/L.70,71 relating, and receptive skills tive thoughts or behaviors that
Remind the family to maintain when compared with children interfere with usual life activity,
follow-up with a pediatric cardi- with autism spectrum disorder should be referred to specialists
ologist, per specialist recommen- without Down syndrome. How- familiar with diagnosis and treat-
dation, for patients with cardiac ever, these adaptive skills are ment of the disorder.112,113
lesions, even after complete impaired in children with a dual Skin problems are particularly
repair to monitor for recurrent/ diagnosis when compared with common in patients with Down
residual lesions, as well as possi- children with Down syndrome syndrome. Xerosis (very dry
ble development of pulmonary alone.110 Also, when compared skin) or hair thinning may be a
hypertension. with children with Down syn- sign of hypothyroidism and war-
Discuss with caregivers at every drome alone, children with dual rant an interim TSH. Be attentive
health supervision visit the diagnosis exhibit more stereoty- to dermatologic issues that may
child’s behavioral and social pro- pies, repetitive language, overac- have an autoimmune etiology
gress. Encourage families to tivity, social withdrawal, anxiety, and are prevalent among chil-
teach self-help skills and counsel and self-injury.12,109 There is also dren with Down syndrome, such
to prevent wandering. Refer decreased receptive and as alopecia areata and vitiligo.

by guest
Folliculitis and keratosis pilaris into their personal space or per- children up to age 10 and with
are also commonly seen in chil- forming a procedure. Remind the BMI chart from the Centers for
dren with Down syndrome. patient and family that the only Disease Control and Prevention,
Assess for skin findings, discuss reason anyone should be looking which is a better indicator of excess
them with the patient and family, at or touching private body parts adiposity for children with Down
and consider referral to a derma- is for health (doctor office visits) syndrome over the age of 10.58
tologist if needed.114,115 or hygiene (bathing or Review feeding. Ask about any
showering).118 changes in respiratory symptoms
Anticipatory Guidance From 1 to On at least 1 well-child visit, edu- with feeding and ensure ade-
5 Years
cate the family about increased quate iron intake (see Health
Review early intervention, includ- risk of sexual exploitation, and Supervision From Birth to
ing physical therapy, occupational remind them that people their 1 Month for discussion).
therapy, and speech therapy, at all child knows and trusts are more Emphasize healthy diet and life-
health supervision visits. likely than strangers to be style for preventing obesity.
Discuss at the 30-month visit the
perpetrators. Obtain annual ear-specific audio-
transition from early intervention
At least once between 1 and logic evaluation (see Health
to preschool, which occurs at 36
5 years of age, discuss future Supervision From 1 Month to
months of age. Help the family
parental pregnancy planning and 1 Year for discussion). If middle
understand the change from the
review chance of recurrence of ear disease occurs, obtain devel-
Individualized Family Service
Down syndrome and availability opmentally appropriate hearing
Plan in early intervention to the
of prenatal testing options. Offer evaluation after treatment.
Individualized Education Pro-
referral for genetic counseling if Obtain ophthalmologic evaluation
gram through public education
desired by the family. by photoscreening, if available, at
(see Resources for Families).
Assess the child’s behavior and every health supervision visit or
Review availability of resources,
talk about behavioral manage- by a pediatric ophthalmologist or
including Down syndrome sup-
ment, sibling adjustments, social- ophthalmologist with expertise in
port groups and organizations
ization, and recreational skills.119 children with disabilities every
that help with navigation of com-
Encourage families to establish 2 years63,85 (see Health Supervi-
munity and financial resources,
optimal dietary and physical sion From 1 Month to 1 Year for
including child care (see Resour-
exercise patterns that will pre- discussion).
ces for Families).
Provide influenza vaccine annu-
vent obesity. Measure TSH annually; the risk
Be prepared to discuss and of hypothyroidism increases with
ally. Respiratory syncytial virus
prophylaxis may be considered
answer questions about treat- age (See “Health Supervision
ments that are considered com- From 1 to 5 Years” for discus-
for children <2 years who have
plementary or alternative (see sion). Measure TSH every 6
cooccurring qualifying conditions.
Health Supervision From Birth to months if antithyroid antibodies
Children with chronic cardiac or
1 Month for discussion). have been detected.
pulmonary disease should be
given the 23-valent pneumococ- Individualize cardiology follow-
cal polysaccharide vaccine at HEALTH SUPERVISION FROM 5 TO up on the basis of history of car-
2 years of age or older.53 12 YEARS: LATE CHILDHOOD diac defects.
Reassure parents that delayed Follow Bright Futures schedule or Obtain a CBC and either (1) a
and irregular dental eruption more frequently as indicated. combination of ferritin and CRP,
patterns are common and that or (2) a combination of serum
hypodontia occurs with increased Obtain a history and perform a iron and TIBC, beginning at
frequency (23%).116,117 physical examination. 1 year of age and annually there-
Encourage and model use of Monitor weight and follow BMI after (see Health Supervision
accurate terms for genitalia and trends at each health care visit. From 1 Month to 1 Year for
other private body parts (penis, Review the child’s growth and discussion).
vulva) anytime these body parts plot it on the Down syndrome- A physician may prescribe iron
are discussed or examined. specific charts for weight, height, supplementation for children
Model respect for body rights by and head circumference.120 with sleep problems and a ferri-
reminding patients that their These charts should be used in tin concentration <50 mg/L (see
body is their own and explain conjunction with the Down syn- Health Supervision From 1 to
what you will do before moving drome-specific BMI chart for 5 Years for discussion).

by guest
Palpate testes at each health constipation. Intervention strate- specialist any child with signs or
supervision visit (see Health gies depend on the child’s age, symptoms of sleep-disordered
Supervision From 1 to 5 Years the severity of the problem, and breathing or abnormal sleep-
for discussion). the setting in which the problem study results. Children with sleep
For children on a diet that con- occurs. When symptoms interfere problems and a ferritin concen-
tains gluten, review for symp- with daily activities, refer to com- tration <50 mg/L may benefit
toms potentially related to celiac munity treatment programs, psy- from iron supplementation.70,71
disease at every health mainte- chosocial services for Discuss obesity as a risk factor of
nance visit and evaluate if indi- consultative care, or behavioral sleep apnea and review need to
cated (see Health Supervision specialists experienced in work- implement healthy diet and activ-
From 1 to 5 Years for ing with children with special ity in affected patients (see
discussion). needs. Refer patients who have Health Supervision From 1 to 5
At each well-child visit, discuss chronic behavioral problems or Years for discussion).
with family the importance of manifest acute deterioration in
Anticipatory Guidance From 5 to 12
universal precautions for protec- function for specialized evalua-
Years at Every Health Supervision
tion of the cervical spine during tion and intervention112,113,121 Visit, Unless Otherwise Indicated
any anesthetic, surgical, or radio- (see Health Supervision From 1
Review the child’s development
graphic procedure. Perform care- to 5 Years for discussion).
and appropriateness of transition
ful history and physical Be aware that children with
to elementary school placement
examination, with attention to Down syndrome are frequently
and any additional developmen-
myelopathic signs and symptoms. more sensitive to certain medica-
tal intervention.
Caregivers should also be tions. Before initiating medica- Discuss socialization, family sta-
instructed to contact their physi- tion for behavior management, tus, and relationships, including
cian immediately for new onset the process should be discussed financial arrangements, health
of symptoms of myelopathy (see between the primary care physi- insurance, and guardianship,
Health Supervision From 1 to cian and specialists involved in incorporating supported deci-
5 Years for discussion). the child’s care. Although there sion-making where recognized
Discuss skin, hair, and scalp care has been little research to (see Resources for Families).
at each preventive health care directly address the use of psy- Encourage development of age-
visit and refer to dermatologist if chotropic medications among appropriate social skills, self-help
needed (see Health Supervision children with Down syndrome, skills, and development of a
From 1 to 5 Years for anecdotal reports indicate that sense of responsibility.
discussion). these children may differ in their Counsel families regarding the
Encourage caregivers to promote response to medications. Experi- transition from elementary to
self-help skills and assume devel- ence has led to the recommenda- middle school, when major
opmentally appropriate responsi- tion to start medications at the change often occurs, from 1
bilities in the home. Monitor for lowest recommended dose and teacher to several and from 1
behavior problems that interfere increase or decrease the dose class to changing classes. Prepare
with function in the home, com- according to the child’s them to facilitate adjustment at a
munity, or school. Attention response.122 time when the academic dispar-
problems, attention-deficit/ Inquire regarding symptoms of ity becomes greater and full
hyperactivity disorder, obsessive- neurologic dysfunction, including inclusion becomes more difficult.
compulsive behaviors, noncom- seizures, and perform a neuro- Although transition to work-envi-
pliant behavior, and wandering logic examination. ronment planning occurs for-
off are some of the common Discuss symptoms related to mally at age 14 in the
behavior concerns reported. Psy- sleep-disordered breathing at individualized education pro-
chiatric disorders affecting typi- every well-child visit, including gram, the discussion and partici-
cally developing children may snoring, restless sleep, daytime pation in community resources
also occur. Evaluate for medical sleepiness, nighttime awakening, may begin at a much earlier age,
problems that can be associated behavior problems, and abnor- approximately age 10, and all
with behavior changes, including mal sleep position. Refer to a subsequent visits.
thyroid abnormalities, celiac dis- physician with expertise in pedi- Refer patients with behavior or
ease, sleep-disordered breathing, atric sleep, otolaryngologist, or a history concerning for autism for
gastroesophageal reflux, and pediatric sleep medicine appropriate evaluation (see

by guest
Health Supervision From 1 to assist the family in their deci- and head circumference. These
5 Years for discussion). sion-making regarding questions should be used in conjunction
Continue to assess, monitor, and about long-term and reversible with the Centers for Disease Con-
encourage independence with birth control.123,127,128 trol BMI chart58,120 (see “Health
hygiene and self-care. Encourage At least once between 5 and Supervision From 5 to 12 Years”
family to teach, model, and 12 years of age, as with discus- for discussion). Counsel regard-
respect privacy at home and in sion in the first year of life, dis- ing healthy diet and a structured
the community. Discuss appropri- cuss future parental pregnancy exercise program.
ate management of sexual behav- planning and review risk possi- Review feeding, ask if there have
iors such as masturbation. bility of recurrence of Down syn- been any changes in eating pat-
Discuss progression of physical drome, as well as availability of terns or respiratory symptoms
and psychosocial changes prenatal testing options. Offer with feeding, and ensure ade-
through puberty and issues of referral for genetic counseling if quate iron intake (see Health
fertility and contraception.118 desired by the family. Supervision From Birth to
Remind family that pubertal Parents should be advised that 1 Month for discussion).
development usually follows pat- trampoline use should be Emphasize healthy diet and life-
terns similar to those found in avoided by all children, with or style for preventing obesity.
the general population, but the without Down syndrome, unless Obtain a CBC with differential
child with Down syndrome will part of a structured training pro- and either (1) a combination of
likely need more preparation in gram with appropriate supervi- ferritin and CRP, or (2) a combi-
understanding and managing sion and safety measures in nation of serum iron and TIBC,
these changes.123 place. Parents can be advised beginning at 1 year of age and
On at least 1 health supervision that participation in contact annually thereafter.
visit, educate family about sports, such as football, soccer, A physician may elect to pre-
increased risk of sexual exploita- and gymnastics, places children scribe iron supplementation for
tion (see “Anticipatory Guidance at risk for spinal cord adolescents/early adults with
From 1 to 5 Years” for injury.96,129 restless sleep and a ferritin con-
discussion). Special Olympics requires docu- centration <50 mg/L for children
Discuss the need for gynecologic mentation of physical examina- or 75 for adults71, (see Health
care in the pubescent girl. Pro- tion of all athletes for Supervision From 1 to 5 Years
vide developmentally appropriate participation in sports.94 for discussion).
discussion about puberty and Be prepared to discuss and Palpate testes at each health
include menses and dysmenor- answer questions regarding treat- supervision visit (see Health
rhea (see Resources for Fami- ments that are considered com- Supervision From 1 to 5 Years
lies). When developmentally plementary or alternative (see for discussion).
appropriate on at least 1 visit, Health Supervision From Measure TSH concentration
talk with the patient and her 1 Month to 1 Year for discussion). annually and obtain TSH sooner
family about the chance of Down if there are symptoms of thyroid
syndrome in her children (50%) HEALTH SUPERVISION FROM 12 TO dysfunction (see Health Supervi-
if she were to become 21 YEARS OR OLDER: ADOLESCENCE TO sion From Birth to 1 Month for
pregnant.124 EARLY ADULTHOOD discussion). Measure TSH every
Although males with Down syn- Follow Bright Futures schedule or 6 months if antithyroid antibod-
drome are usually infertile, there more frequently as indicated. ies have been detected.
have been rare instances in Obtain annual ear-specific audio-
which a male has Physical Examination and logic evaluation (see Health
reproduced.125,126 Laboratory Values Supervision From 1 Month to
When developmentally appropri- Obtain a history and perform a 1 Year for discussion). If middle
ate, birth control and prevention physical examination. ear disease occurs, obtain devel-
of sexually transmitted infections Monitor weight and follow BMI opmentally appropriate hearing
should be discussed with patients trends at each health care visit. evaluation after treatment.
and their families.123 Advocate Review the adolescent/young For adolescents/early adults on a
for and offer long-acting, revers- adult’s weight and height and diet that contains gluten, review
ible contraception. Be familiar plot it on the Down-syndrome for symptoms potentially related
with local law and resources to specific charts for weight, height, to celiac disease at every health

by guest
supervision visit and evaluate if Skin problems are particularly where recognized, and long-term
indicated (see Health Supervision common in people with Down financial planning from early
From 1 to 5 Years for syndrome. Discuss skin, hair, and adolescence (see Resources for
discussion). scalp care at each preventive Families).132,133 Potential adult
Individualize cardiology follow- health care visit and consider morbidities, including apparent
up on the basis of history of car- referral to a dermatologist if tendency toward premature
diac defects. needed (see Health Supervision aging and increased risk of Alz-
Discuss symptoms related to From 1 to 5 Years for discus- heimer disease, may also be
sleep-disordered breathing, sion). In addition, inflammatory discussed.134
including snoring, restless sleep, disorders such as hidradenitis Discuss appropriateness of
daytime sleepiness, nighttime suppurativa may present at an school placement and vocational
awakening, behavior problems, older age.131 planning as early as possible in
and sleep position, at every Perform visual acuity testing or the school setting and emphasize
health supervision visit. Refer to photoscreening, if available, at planning for transition to adult-
a physician with expertise in every health supervision visit or hood and adequate vocational
pediatric sleep any child with ensure adolescent/young adult is training within the school
signs or symptoms of sleep-dis- under care of a pediatric ophthal- curriculum.
ordered breathing or an abnor- mologist or ophthalmologist Patients/caregivers should be
mal sleep-study result. Discuss experienced in care of people advised that trampoline use
the risk factor of obesity for with disabilities who will deter- should be avoided by all children,
sleep apnea and counsel regard- mine the frequency of assess- with or without Down syndrome,
ing healthy diet and activity if ment. Assessment for onset of unless part of a structured train-
needed. cataracts, refractive errors, and ing program with appropriate
Discuss with caregivers and the keratoconus, which can cause supervision and safety measures
patient at every health supervi- blurred vision, corneal thinning, in place. Parents can be advised
sion visit the importance of cervi- or corneal haze and is typically that participation in contact
cal spine-positioning precautions diagnosed after puberty, is sports, such as football, soccer,
for protection of the cervical important.63,85 and gymnastics, places children
spine during any anesthetic, sur- Examine annually for acquired at risk for spinal cord injury.129
gical, or radiographic procedure. mitral and aortic valvular disease Special Olympics requires docu-
Perform careful history and in older patients with Down syn- mentation of physical examina-
physical examination with atten- drome. An echocardiogram tion of all athletes for
tion to myelopathic signs and should be obtained if there is a participation in sports.94 Be pre-
symptoms. Caregivers and history of increasing fatigue, pared to discuss and answer
patients should also be instructed shortness of breath, exertional questions regarding treatments
to contact their physician imme- dyspnea, or a new murmur or that are considered complemen-
gallop. tary or alternative (see Health
diately for new onset of symp-
Refer patients with behavior or
toms of myelopathy (see Health Supervision From 1 Month to
history concerning for autism
Supervision From 1 to 5 Years 1 Year for discussion).
spectrum disorder for appropri-
for discussion). On at least 1 health supervision
ate evaluation and therapy (see
Inquire regarding symptoms of visit, educate family about
Anticipatory Guidance From 1 to
neurologic dysfunction, including increased risk of sexual exploita-
5 Years for discussion).
seizures, and perform neurologic tion (see Anticipatory Guidance
examination. Anticipatory Guidance From 12 to From 1 to 5 Years for
Discuss behavioral and social sta- 21 Years and Older at Every Health discussion).
tus and refer patients who have Supervision Visit, Unless Otherwise Continue to assess, monitor, and
depression,130 chronic behavioral Indicated encourage independence with
problems, or acute deterioration Issues related to transition into hygiene and self-care. Provide
in function for specialized evalua- adulthood, including educational guidance on healthy, normal, and
tion and intervention.112,113,121 goals, work, independence, and typical sexual development and
Inquire regarding symptoms of transition of medical care. Con- behaviors. Provide education and
acute regression (see Health tinue these discussions and guidance about normal mastur-
Supervision From 1 to 5 Years include guardianship incorporat- bation behaviors and personal
for discussion). ing supported decision-making, boundaries. Emphasize the need

by guest
for understandable information FUTURE CONSIDERATIONS Childhood
and encourage opportunities for Many issues related to the Pueschel SM, ed. A Parent’s Guide
advancing comprehension of sex- development and health of people to Down Syndrome: Toward a
uality (see Resources for with Down syndrome remain to be Brighter Future. Bethesda, MD:
Families). Discuss the need for evaluated, and research agendas for Brookes Publishing; 2001.
contraception and prevention of addressing both public health and Stein DS. Supporting Positive
sexually transmitted infections basic science topics have been Behavior in Children and Teens
and the degree of supervision developed. Knowledge in several with Down Syndrome: The
required. Advocate for and offer topics of great importance to the Respond but Don’t React Method.
use of long-acting, reversible con- care of children with Down Bethesda, MD: Woodbine House;
traception and be familiar with syndrome could be enhanced 2016.
local laws and resources to assist through population-based research. www.woodbinehouse.com. Vari-
the family in their decision-mak- A rigorous, evidence-based review ety of books for families, thera-
ing regarding questions about of screening and treatment of pists, and teachers of children
long-term and reversible birth atlantoaxial instability, for example, with Down syndrome.
control.123 is needed, and continuing research
Make recommendations and pro-
Adolescence
is critical for directing the care for
vide or refer for routine gyneco- Got Transition: http://www.
optimal outcomes of people with
logic care as needed for long- gottransition.org/. Provides
Down syndrome.1,139–141
acting, reversible contraception resources and guidance for
or other indications if not already transition.
RESOURCES FOR FAMILIES Couwenhoven T. Boys Guide to
provided. Discuss premenstrual
behavioral problems and man- Prenatal and Infancy Growing Up–Choices & Changes
During Puberty Written for Per-
agement of menses, including Brighter Tomorrows Supporting
caregiver concerns regarding sons with Intellectual Disability.
Families: https://hdi.uky.edu/
Bethesda, MD: Woodbine House;
menstrual suppression for project/brighter-tomorrows-
2012.
hygiene purposes.128,135,136 supporting-families-with-
Couwenhoven T. Girls Guide to
At least at 1 visit, talk with the accurate-information-about-
Growing Up–Choices & Changes
female patient and her family down-syndrome. Supporting fam-
During Puberty Written for Per-
about the chance that she could ilies with accurate information
sons with Intellectual Disability.
have a child with Down syn- about Down syndrome (includes
drome if she were to become Lettercase resources). Interdisci-
2012.
pregnant.123–124 plinary Human Development
Simmons J. The Down Syndrome
Discuss independent living Institute, University of Kentucky.
Transition Handbook: Charting
opportunities, group homes, Lettercase resources: www.
Your Child’s Course to Adulthood.
options for postsecondary educa- lettercase.org. Provides prenatal
tion, workshop settings, and and postnatal counseling for fam- 2010. Available at: www.
other community-supported ilies. One copy provided free to woodbinehouse.com.
employment. professionals and family.
Discuss intrafamily relationships, Down Syndrome Diagnosis Net- Across the Lifespan
financial planning including the work: www.dsdiagnosisnetwork. DS-Connect: The Down Syndrome
Achieving a Better Life Experi- org. Cohorts of families with sim- Registry: https://DSConnect.nih.
ence Act (see Resources for Fam- ilar due dates or birthdates con- gov. Families and patients con-
ilies), and guardianship including nected in moderated Facebook nect with researchers and health
supported decision-making groups. care providers and may partici-
where recognized.132 Skallerup SJ. Babies With Down pate in clinical studies and take
Facilitate transition and provide Syndrome: A New Parents Guide, confidential health-related sur-
coordination to adult medical pri- 3rd ed. Bethesda, MD: Woodbine veys that help achieve better
mary and subspecialty care.137 It House; 2009. (English and Span- understanding of people with
is recognized that many young ish editions available at www. Down syndrome across the
adults receive care from pediatri- woodbinehouse.com.) Provides lifespan.
cians, and providers will want to guidance for raising and caring National Down Syndrome Con-
be aware of the newly developed for a child with Down syndrome gress: www.ndsccenter.org. Infor-
health supervision for adults.138 through age 5. mation, advocacy, education, and

by guest
support for persons with Down tax-advantage savings programs Liaisons
syndrome, siblings, and families for eligible people with disabil- Christopher Cunniff, MD, PhD, FAAP;
in English and Spanish. ities (designated beneficiaries) American College of Medical
National Down Syndrome Soci- and can help pay for qualified Genetics
ety: www.ndss.org. Advocacy and disability expenses. Melissa A. Parisi, MD, PhD, FAAP;
information regarding Down syn- DSC2U Down syndrome clinic to Eunice Kennedy Shriver National
drome across the lifespan. you: www.dsc2u.org. Provides Institute of Child Health and Human
Family Voices: https:// personalized health and wellness Development
familyvoices.org/affiliates/. Fam- information about Down syn- Steven J. Ralston, MD; American
ily-to-family health information drome to caregivers and primary College of Obstetricians and
centers that help families navi- care physicians. Gynecologists
gate systems needed by children Joan A. Scott, MS, CGC; Health
with special health care needs. Lead Authors
Resources and Services
Parent to Parent USA: https:// Marilyn J. Bull, MD, FAAP Administration, Maternal and Child
www.p2pusa.org/parents. Pro- Tracy Trotter, MD, FAAP Health Bureau
vides support to deal with chal- Stephanie L. Santoro, MD, FAAP Stuart K. Shapira, MD, PhD; Centers
lenges of raising children with Celanie Christensen, MD, MS, FAAP for Disease Control and Prevention
special health care needs. Randall W. Grout, MD, MS, FAAP
Parent Training and Information Staff
Centers: https://www. Council on Genetics Executive
Committee, 2019–2020 Paul Spire
parentcenterhub.org. Resources in
each state that inform, prepare, Leah W. Burke, MD, FAAP;
and assist families with navigation Chairperson
of the education system. Susan A. Berry, MD, FAAP ABBREVIATIONS
March of Dimes: www. Timothy A. Geleske, MD, FAAP BAER: brainstem auditory
marchofdimes.com. Information Ingrid Holm, MD, FAAP evoked response
for parents on health issues Robert J. Hopkin, MD, FAAP CBC: complete blood cell count
related to pregnancy and birth Wendy J. Introne, MD, FAAP cfDNA: cell-free DNA
defects. Michael J. Lyons, MD, FAAP CRP: C-reactive protein
Down Syndrome Education Inter- Danielle C. Monteil, MD, FAAP CVS: chorionic villus sampling
national: www.downsed.org. Angela Scheuerle, MD, FAAP FISH: fluorescent in situ
Resources for educators and Joan M. Stoler, MD, FAAP hybridization
parents relevant to communica- Samantha A. Vergano, MD, FAAP IgA: immunoglobulin A
tion, numeracy, speech, and sup- T4: free thyroxine
porting inclusion. Former Executive Committee
TAM: transient abnormal
Canadian Down Syndrome Soci- Members
myelopoiesis
ety: www.cdss.ca. Resources for Emily Chen, MD, PhD, FAAP, TIBC: total iron-binding capacity
families on a variety of issues Co-Chairperson TSH: thyroid-stimulating
related to Down syndrome. Rizwan Hamid, MD, PhD, FAAP hormone
ABLE ACT 2014: https://www. Tracy L. Trotter, MD, FAAP, TTG: tissue transglutaminase
irs.gov/government-entities/ Co-Chairperson
federal-state-local-governments/
able-accounts-tax-benefit-for- Partnership for Policy
people-with-disabilities. Tax ben- Implementation Contributors
efit for people with disabilities: Stephen M. Downs, MD, MS, FAAP
allow states to create Randall W. Grout, MD, MS, FAAP
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e20182587 Medical Care Guidelines for Adults March 25, 2022

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FROM THE AMERICAN ACADEMY OF PEDIATRICS
Supplemental Information
SUPPLEMENTAL FIGURE 1. Summary of Down syndrome-specific care.
Action Pre- Birth up to 1 1 mo up to 1 yr up to 5 yr up to 12 yr up to
natal mo 1 yr 5 yr 12 yr 21 yr
1. Confirm DS diagnosis with either CVS or amniocentesis prenatally
or karyotype postnatally
2. Review recurrence risk and offer the family referral to a clinical
geneticist or genetic counselor.
3. Offer parent-to-parent and support group information to the family.
4. Use CDC DS-specific growth charts to monitor weight, length, All healthcare visits
weight-for-length, head circumference, or BMI. Use standard charts
for BMI after age 10 years.
5. Order an echo, to be read by a pediatric cardiologist.
6. Feeding assessment or video study if any: marked hypotonia, Any visit
underweight (<5th %ile weight-for-length or BMI), slow feeding or
choking with feeds, recurrent or persistent abnormal respiratory
symptoms, desaturations with feeds
7. Obtain objective hearing assessment (may be in NBS protocols) Up to 6 mo
and follow EHDI protocols.
8. If TM can’t be visualized, refer to otolaryngologist for exam with Every 3-6
microscope until reliable TM and tympanometry exams are possible mo
9. Car safety seat evaluation before hospital discharge.
10. CBC with differential By day 3
11. If TAM, make caregivers aware of risk/signs of leukemia (e.g., easy
bruising/bleeding, recurrent fevers, bone pain)
12. TSH At birth (if Every 5-7 mo Annually, and every 6 mo if antithyroid antibodies ever detected
not in NBS)
13. RSV prophylaxis based on AAP guidelines. Annually Through 2 yr
14. Discuss cervical spine-positioning for procedures and atlantoaxial All HMV Biennially
stability precautions.
15. Assess for CAM use, discourage any unsafe CAM practices. All HMV
16. Refer children to early intervention for speech, fine motor or gross Any visit Up to 3 yr
motor therapy.
17. If middle ear disease occurs, obtain developmentally-appropriate When ear After treatment
hearing evaluation. clear
18. Rescreen hearing with developmentally-appropriate methodology Start at 6mo, every 6 mo until established normal bilaterally by ear-specific testing,
(BAER, behavioral, ear-specific). then annually
19. Refer to ophthalmologist with experience and expertise in children By 6 mo
with disabilities.
20. CBC with differential if easy bruising or bleeding, recurrent fevers, Any visit
or bone pain
21. Assess for sleep-disordered breathing; if present, refer to physician At least once by 6 mo, then all subsequent HMV thereafter
with expertise in pediatric sleep disorders.
22. Ensure child is receiving developmental therapies, and family All HMV
understands and is following therapy plan at home.
23. CBC with differential and either (1) a combination of ferritin and Annually
CRP, or (2) a combination of serum iron and Total Iron Binding
Capacity
24. If a child has sleep problems and a ferritin less than 50 mcg/L, the Any visit
pediatrician may prescribe iron supplement.
25. Vision screening All HMV, use Photoscreen (all Photoscreen (all Visual acuity or
developmental HMV); if unable, HMV); if unable, photoscreening at all
ly-appropriate refer to refer to HMV, or
criteria ophthalmologist ophthalmologist ophthalmology-
annually biennially determined schedule
26. If a child has myelopathic symptoms, obtain neutral C-spine plain Any visit
films (see text for details).
27. Obtain polysomnogram. Between 3-5 yr
28. Prepare family for transition from early intervention to preschool. At 30 mo
29. Discuss sexual exploitation risks. At least once At least once At least once
30. Make developmentally-appropriate plans for menarche, As developmentally-appropriate, then all
contraception (advocate/offer LARC), and STI prevention. subsequent HMV
31. Discuss risk of DS if patient were to become pregnant. At least once At least once
32. Assess for any developmental regression. All HMV
33. Discuss and facilitate transitions: education, work, finance, All HMV starting at 10 yr
guardianship, medical care, independent living
Do once at this age Abbreviations: DS, Down syndrome; CVS, Chorionic villus sampling; HMV, Health Maintenance Visit; BMI,
Do if not done previously Body mass index; CDC, Centers for Disease Control; EHDI, Early Hearing Detection and Intervention; NBS,
Repeat at indicated intervals Newborn screen; CAM, Complementary and alternative medicine; BAER, Brainstem auditory evoked
(border) See report for end point response; TM, Tympanic membrane; TAM: transient abnormal myelopoiesis

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CLINICAL REPORT Guidance for the Clinician in Rendering Pediatric Care

Health Supervision for Children and

This clinical report is designed to assist the pediatrician in caring for a

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