Down syndrome (DS), also known
as trisomy 21, is the most common genetic disorder causing intellectual disability
and the most frequently occurring human chromosomal syndrome. Distinct features of
the face, hands, and feet are common. Other congenital anomalies (e.g., heart and
gastrointestinal defects) and acquired conditions (e.g., hypothyroidism, hearing
impairment, and celiac disease) occur with increased frequency in children with
DS.
Other Names & Coding
Down's syndrome DS Mosaic Down syndrome Translocation Down syndrome Trisomy 21
The prevalence of DS varies by age (due to the combined impact of increasing
life span and selective terminations decreasing birth prevalence) and country
(because of dramatic differences in availability of prenatal testing and termination
and population attitudes). The probability of having a baby with DS increases as the
mother’s age increases but, due to higher pregnancy rates in younger women, most
children with DS are born to women under 35 years of age. Changes in childhood
survival have impacted the age distribution of people with DS, with more people in
their fourth, fifth, and sixth decades of life.
The graph (left) is based on the National
Down Syndrome Cytogenetic Register and shows pooled prevalence (per 10,000 live
births) of DS by maternal age. [Alberman: 2002] Prevalence
would have been higher but for DS-related elective pregnancy terminations.
[de: 2017]
The estimated
prevalence of DS among live births in the United States in 2010 was 1:826. The
prevalence across all ages was estimated to be 1:1,499, and the estimated prevalence
adjusted for age distribution in pediatric practice was 1:884. [de: 2017]
[Bocian: 1999] In 2014 in the United Kingdom, the overall
prevalence was 1:1574. [Alexander: 2016]
Genetics
Most individuals with trisomy 21, the additional chromosome results from sporadic nondisjunction of chromosome 21 during meiosis
(>90% are of maternal origin). A small percentage (3-4%) of DS results from an unbalanced translocation between chromosome
21 and another chromosome. About 25% of these unbalanced translocations are familial; the rest are sporadic. [Bull: 2011] An even smaller percentage results from nondisjunction during mitosis of the fertilized egg, resulting in mosacism, in which
only some of the cells in the body are affected. [Bull: 2011]
Prognosis
The severity of associated congenital anomalies and degree of associated
cognitive disability and social adaptability is variable. People with DS have an
increased risk for certain medical conditions such as congenital heart defects,
respiratory and hearing problems, Alzheimer’s disease, childhood leukemia, and
thyroid conditions. Scientific advances in health care for these conditions and
social advances in understanding the importance of educational and social
interventions have led to substantial improvements in the likelihood of a productive
life for individuals with DS. With the aid of a job coach, many adults with DS are
employed in the private sector. Life expectancy for people with DS has increased
dramatically in recent decades – from age 12 in 1949 to age 58 and older now.
[de: 2017]
Bull MJ and the American Academy of Pediatrics Committee on Genetics. Health Supervision for Children with Down Syndrome. Pediatrics.
2011;128(2):393-406.
PubMed abstract / Full Text
Roles of the Medical Home
After the diagnosis of DS, the medical home should provide acute-care
treatment, well-child checks, and chronic care visits. At chronic-care visits,
review progress, proactively manage problems, and provide anticipatory guidance,
vaccinations, and other preventive services. The medical home is pivotal in
implementing screenings, evaluations, and interventions that are based on treatment
guidelines. The management of DS focuses on maximizing the child's capabilities at
home and optimizing social inclusion. Treatment should start as early as possible,
and the medical home, in collaboration with the family, should initiate and
coordinate interdisciplinary care . Develop goals that include optimizing growth
and development; provide ongoing information to families about available
interventions, community resources, evolving scientific understanding of trisomy 21,
and emerging treatments. The family should be central in all
decision-making.
Clinical Assessment
Overview
Published guidelines for surveillance, screening, and caring for children with Down syndrome (DS) tend to focus on high prevalence
issues and areas where consensus can be reached. [Bull: 2011] However, a number of issues are not well-addressed, including gastroesophageal reflux disease, constipation, frequent respiratory
issues, and recognition of autism and ADHD. A comprehensive review of systems and evaluation of identified issues are key
at all visits.
Pearls & Alerts for Assessment
Sleep apnea is common
Sleep apnea occurs in up to 45% of individuals with Down
syndrome. The etiology may be obstructive, central, or mixed. A subset of
individuals exhibits clinically significant sleep apnea without overt signs
of upper airway obstruction. Children may have a normal sleep study and a
few years later have significant apnea. When OSA is treated with a
tonsillectomy and adenoidectomy, it improves but often does not resolve the
concerns. Repeat sleep study should be performed in any situation where a
child has new or persistent symptoms. See Sleep under Co-Morbid Conditions,
above.
Atlanto-axial instability (AAI) may not require treatment
While 13-14% of patients with DS show evidence of atlanto-axial
instability (AAI) on X-ray, only 1-2% have symptoms that require treatment.
Treatment guidelines no longer recommend screening all patients with X-rays.
Rather, clinical care should focus on education for families regarding early
symptoms and monitoring for emergence of clinical signs of AAI as discussed
under orthopedics. Careful questioning for symptoms and a neurologic exam
should be part of any sports PE. Community organizations have yet to effect
this change in guidelines, so some may still require X-rays.
Wheezing may not be asthma
While wheezing is common, asthma is not usually an accurate
diagnosis if diagnostic criteria are accurately applied. [Watts: 2013] There should be careful consideration of other
potential causes.
Screening
For the Condition
Prenatal The 2016 American College of Obstetricians and Gynecologists (ACOG) guidelines advise offering screening and diagnostic testing
options, as well as counseling about risks for aneuploidy, during every pregnancy prior to 20 weeks of gestation. Testing
should result from informed patient choice; women have the right to decline genetic screening in a shared-decision making
model. Maternal age and other risk factors must guide interpretation of any test results.
[Committee: 2016]
[Bull: 2011]
First trimester screening, available in weeks 10-13 of gestation, includes nuchal translucency (NT) measured by ultrasound,
testing maternal blood for levels of pregnancy-associated plasma protein A levels (PAPP-A) and serum-free beta or total human
chorionic gonadotropin (hCG).
NT measurement can help assess individual fetuses in multi-fetal pregnancies (e.g., twins), but is not considered sensitive
or reliable as a single test.
The Triple screen, available from 15 through 22 weeks of gestation, includes maternal blood levels of hCG, unconjugated estriol,
and α-fetoprotein (AFP). Used in isolation, this is the least accurate screening method.
The Quad screen, available from 15 through 22 weeks of gestation (ideally in weeks 16-18), incorporates assessment of maternal
blood levels of hCG, unconjugated estriol, α-fetoprotein (AFP), and dimeric inhibin A levels. The "Penta" screen adds measurement
of levels of hyperglycosylated hCG (also known as invasive trophoblast antigen).
Integrated screening, currently the most accurate approach, is a two-step process that combines NT measurement with serum
measures from the triple and quad screening. "Serum integrated" utilizes the same blood screening but does not include NT.
Results of integrated screening are not available until the second trimester.
Sequential (stepwise or contingent) screening is like integrated screening except the first trimester risk assessment is used
to tailor subsequent screens and diagnostic testing. This approach enables decision-making in the first trimester.
Cell-free DNA testing can be used to screen for aneuploidy starting at 10
weeks; it is the only screen available for use in the third trimester.
This method analyzes segments of placental DNA found in maternal blood.
It can be quite effective at detecting trisomy 21 in high-risk
populations (those with high pre-test probability), but false positives
are increased in low-risk populations.
Pre-implantation genetic screening can be used in in vitro fertilization (IVF).
None of these screening tests are considered diagnostic. Mothers with positive screens should be offered diagnostic testing.
Diagnostic evaluations are more invasive because they require obtaining samples of fetal tissue for genetic testing. Rates
of loss associated with these procedures are 0.1% to 0.3% when performed by experienced providers. [American: 2016] Chorionic villus sampling is done at 10-13 weeks, or amniocentesis is usually performed at 15-20 weeks but can be done later.
Testing of embryonic tissue is also feasible prior to implantation during in vitro fertilization.
Of Family Members
Less than 5% of confirmed diagnoses of DS are familial and thus carry risk of recurrence. [Bull: 2011] If a child with DS is determined to have a chromosomal translocation, it is important to determine if the parents carry a
balanced translocation in order to provide counseling regarding recurrence risk in future pregnancies and to determine if
other family members should be tested.
For Complications
The most recent guidelines [Bull: 2011] provide recommendations for universal and symptom-based screening of newborns and children with DS for a wide range of comorbid
conditions. These are compiled in the Down Syndrome Checklist (2018) ( 132 KB) for use in practice.
Newborn period Universal screening
Routine newborn screening
Hearing screening is adequate if ABR or OAE is normal; if abnormal, the child should be referred for follow-up evaluation.
Thyroid screening with thyroid stimulating hormone (TSH) is adequate; if the routine screen uses only T4, a TSH should be
obtained during the nursery stay.
Echocardiogram to evaluate for congenital heart disease (a normal fetal
echo is not adequate since some heart defects can be missed, in the
stable infant, the echo can be completed electively in the first weeks
of life).
Hematologic screening: Complete blood count to assess for a leukemoid reaction, myeloproliferative disorder, and polycythemia.
Vision screening: Evaluate for cataracts with the red reflex exam.
Symptom-based screening
Consider car seat trial in infants with low birth weight, heart disease, or severe hypotonia
Consider a modified barium swallow study for newborns with feeding difficulties, respiratory concerns, or severe hypotonia
Assess for anorectal atresia/stenosis or Hirschsprung’s disease in newborns who fail to pass meconium within the first 48
hours of life.
If clinical concerns suggest their potential, assess for intestinal atresia, airway abnormalities, obstructive sleep apnea,
and gastroesophageal reflux disease.
Routine screening for renal and urinary tract abnormalities, atlanto-axial instability and spinal anomalies is not recommended
unless indicated by symptoms (e.g., a urinary tract infection, symptoms of urinary obstruction, persistent head tilt or torticollis).
Infancy through adolescence (refer to Down Syndrome Checklist (2018) ( 132 KB) for details and frequency of recommended screening by age). Special considerations for children with DS include:
Hearing loss from middle ear effusion, which is often hard to visualize, is common. Some clinicians refer to ENT for routine
exams to aid in monitoring.
Eye examinations should include assessment of red reflex. Due to the high prevalence of problems (e.g., myopia, hyperopia,
cataracts, strabismus, nystagmus), all children with DS should be examined by a pediatric ophthalmologist by 6 months of age.
In-office photo screening is recommended, if available, after one year of age.
All children with DS should be referred to an early intervention program. Bright Futures guidelines recommend standardized
developmental screen (e.g., ASQ or PEDS) at 9 months of age; this should be done for any child with DS who has not been previously
identified as having delays. [Committee: 2017] As many as 20-30% of children with DS will have an autism spectrum disorder; clinicians should monitor for suggestive symptoms
and refer for evaluation when indicated.
Radiologic imaging for atlanto-axial instability (AAI) or spinal
anomalies should be performed if symptoms suggest (e.g., persistent head
tilt or torticollis, lower extremity increased reflexes). All children
should be managed with the potential for AAI when positioning for
intubation. Parents should be taught recommended activity restrictions
(e.g., do not teach tumbling, no head-first diving, no trampoline till
age 6 years and then only with supervision) and clinical signs that
suggest a need for evaluation (e.g., increase tone in legs, change in
gait or hand function, chronic headaches or neck pain, chronic head
tilt).
Sleep study is recommended by age 4 but should be completed sooner if there are any symptoms suggestive of obstructive or
central sleep apnea.
Consider testing for celiac disease if there is failure to thrive, chronic diarrhea, persistent constipation, chronic bloating,
or iron deficiency; it is unlikely if the child has not started foods with gluten and is uncommon prior to age one.
Renal/urologic studies if concerns for obstruction (e.g., posterior urethral valves) or urinary tract infection
Presentations
Current prenatal screening will identify approximately 85-90% of fetuses with
DS. A European study found that roughly 90% of mothers of affected fetuses opted to
terminate pregnancy. [Morris: 2009] The birth of infants
with DS not previously identified is becoming less common but will continue.
Clinicians may be considering DS when a newborn is noted to have atypical features,
hypotonia, or a DS-associated major malformation. An infant's presentation may be
subtle, leading to occasional missed diagnoses in the newborn period. These infants
are likely to be recognized by the primary care clinician due to poor growth,
feeding concerns, developmental delays, hypotonia, or concern for a medical
condition associated with DS.
Ten percent of individuals
with DS are identified after 1 week of age and more than half not until adulthood
(identification rates reflect past screening approaches, and it is not clear how
updated screening guidelines will impact them). Delayed diagnosis is more likely
when an individual has mosaic trisomy 21, in which physical features may be subtle.
Mosaic trisomy 21 has been identified in adult individuals with intellectual
challenges who had no physical features of DS.
Diagnostic Criteria
While physical features may suggest a diagnosis of DS, confirmation requires chromosome analysis, which, in most individuals,
will reveal an extra chromosome 21. In 4% of patients with DS, analysis will find the attachment of an extra-long arm of chromosome
21 to another chromosome (translocation DS). A very small percentage have an extra chromosome 21 in only some of their somatic
cells, due to nondisjunction during mitosis of the fertilized egg (mosaic DS).
Differential Diagnosis
Other genetic syndromes that can have overlapping features include
Smith-Magenis syndrome and Noonan syndrome.
Since many
physical features of DS occasionally occur in typical infants, the clinician should
look for a constellation of findings when considering the diagnosis. Epicanthal
folds, protruding tongue, simian crease, widely-spaced first and second toes,
hypotonia, and up-slanting palpebral fissures are suggestive, especially in
combination; however, these features can all be found in people with normal
chromosomes. These issues underscore the importance of genetic testing to confirm
diagnosis.
Comorbid & Secondary Conditions
Individuals with DS are at risk for many associated conditions,
discussed below by organ system.
Cardiovascular Congenital heart defects are found in around 50% of
infants with Down syndrome. [Watts: 2013]
[Bull: 2011] Early mortality is associated with the
presence of a cardiac defect, particularly if combined with a gastrointestinal
malformation. The most common defects include:
Atrioventricular septal defects, with or without other
heart defects (45%)
Ventricular septal defects, with or without other heart
defects (35%)
Isolated secundum atrial septal defect (8%)
Isolated persistent patent ductus arteriosus (7%)
Isolated tetralogy of Fallot (4%)
Other (1%)
Pulmonary hypertension may be diagnosed at birth or may
develop in the child with unrecognized or untreated sleep apnea or heart defect. If
untreated, over the long term, pulmonary hypertension may not be reversible in the
patient with an unrepaired heart defect, Eisenmenger syndrome may evolve (in which
pulmonary hypertension, reversal of flow, and cyanosis develop as a left-to-right
shunt switches from right to left).
Acquired valvular dysfunction is common in adults with Down
syndrome without congenital heart disease (up to 50%).
Mitral valve prolapse is most common
Tricuspid, aortic, and mitral insufficiency have also been
reported
Nutrition
Newborns with DS are at risk for feeding problems due to a
weak suck, low tone, and problems related to any organ malformations.
However, many mothers who breastfeed are successful if they stick with it.
[Aumonier: 1983]
[Bull: 2011] Some infants will need significant
support during the first few weeks of life to attain success with breast or
bottle.
Older infants may have lingering tongue thrust, which can
delay success with introduction of solids.
Oral aversions are also common.
Self-feeding skills are often delayed due to delayed fine
and oral motor skills, oral aversions, and behavioral challenges.
Older children are at risk for excessive weight gain, which
may be more due to family health behaviors than characteristic of DS.
[Bertapelli: 2016]
Behavioral feeding concerns, celiac disease, reflux,
chronic constipation, and diabetes are relatively common and result in
additional need to focus on nutrition.
Respiratory Children with DS are at increased risk for recurrent acute
respiratory illness, including pneumonia, aspiration, bronchiolitis syndromes, and
croup, and/or chronic lung disease. They are also at increased risk for
sleep-related breathing disorders included both obstructive and central apnea.
Contributing factors may include:
Respiratory infections, such as pneumonia and bronchiolitis, are
second only to congenital heart disease as causes for hospitalizations
and are associated with increased morbidity and mortality compared to
other children hospitalized for the same infections.
Structural abnormalities - midface hypoplasia, large
tongue, small subglottic area, laryngomalacia, narrow nasopharynx or choanal
atresia, enlarged tonsils and adenoids, tracheobronchomalacia, esophageal
atresia, and tracheal stenosis. In the lungs, abnormal pulmonary
vasculature, reduced number of alveoli and enlarged alveolar ducts and
alveoli may predispose these children to increased respiratory problems.
Subpleural lung cysts are more commonly present, although the clinical
relevance of these is unclear. " Congenital heart disease can also
predispose children to respiratory problems due to the complex
interdependence of these body systems. [Watts: 2013]
Immune deficiencies – both cellular and humoral immune
differences have been described. Immunoglobin G subclasses 2 and 4 have been
noted to be deficient in some children who have a normal total IgG level.
Gastro-esophageal reflux or dysphagia leading to aspiration
Wheezing may be common, but asthma is not a likely diagnosis.
[Watts: 2013] The children with DS wheeze is not fully
understood, but it is postulated to stem from congenital lung abnormalities,
tracheomalacia, upper airway collapse secondary to hypotonia or congenital heart
disease. [Watts: 2013]
High-altitude pulmonary edema (HAPE) can occur in children
with DS. This condition can occur in those with underlying congenital heart defects,
left to right shunts, and/or pulmonary hypertension, but is not limited to this
subset. HAPE can be an initial sign of pulmonary hypertension. [Watts: 2013]
Sleep Sleep apnea occurs in up to 45% of children with DS, most
commonly obstructive (50-80%), although central apnea can occur. [Bull: 2011]Contributing factors may include: structural
abnormalities (as mentioned under Respiratory above), tonsillar/adenoidal
hyperplasia, hypotonia, obesity, and brainstem dysfunction. Symptoms can include:
Abnormal breathing patterns in sleep
Snoring
Abnormal sleeping positions (e.g., sitting up)
Fragmented sleep (sometimes without snoring)
Inattention
Daytime sleepiness
Difficult morning arousal (due to carbon dioxide retention)
Early morning headaches (due to carbon dioxide retention)
Nocturnal enuresis
Failure to thrive
Behavioral problems
Behavioral sleep problems, including difficulty going to
sleep and staying asleep, also occur in many children with DS (as well as in kids
with normal chromosomes). Providing support to parents to help them optimize sleep
hygiene and manage behavioral sleep issues can be very helpful.
Gastrointestinal The incidence of gastrointestinal anomalies in DS is higher than in
the non-DS population. The most common are:
Intestinal atresia (12% of individuals with DS)
[Bull: 2011]
Celiac disease. (~5%) Note that about a third of
individuals with Down syndrome and celiac disease have no overt clinical
symptoms. [Bull: 2011]
[Pavlovic: 2017] See Celiac Disease for more detail.
Hematologic Transient asymptomatic blood count abnormalities, including
neutrophilia, thrombocytopenia, and polycythemia, can occur in neonates with trisomy
21. Ten percent of infants with DS develop transient myeloproliferative disease
(characterized by the presence of blasts on the smear) with spontaneous regression
in the vast majority. [Bull: 2011] However, transient
myeloproliferative disease can cause significant morbidity/mortality due to rare
liver/heart failure, sepsis, DIC, and hyperviscosity, and 20-30% of children with DS
and myeloproliferation develop lymphoid or myeloid leukemia (often delayed with a
mean age onset of 20 months). [Dixon: 2006]
Individuals with DS are at increased risk for
leukemia throughout childhood. Despite the increased
incidence, the development of leukemia is still a relatively rare event (~1% of
individuals with DS), and routine screening (beyond a complete blood count with
differential at birth) is not recommended. However, follow-up CBCs over the
subsequent 36 months is important for any child who has a leukemoid reaction or
evidence of myeloproliferative disease on their newborn CBC, even if it appears to
normalize in the newborn period.
Screening for
iron deficiency is recommended in children with trisomy
21 yearly. Hemoglobin and RBC indices perform poorly (insensitive) due to baseline
mild macrocytosis in many children with DS. Guidelines suggest checking a taking a
dietary/medical history and checking a hemoglobin in all patients. If the
dietary/medical history identifies any risk for iron deficiency, a marker of iron
storage should be measured (e.g., reticulocyte hemoglobin, ferrite, serum
transferrin). [Dixon: 2010]
Neurology
Microcephaly is relatively common in trisomy 21.
Seizures prevalence in children with DS is 1-14%.
[Barca: 2014] Seizure types may include
infantile spasms (West syndrome), generalized tonic-clonic seizures, partial
seizures, Lennox-Gastaut, and reflex seizures. Of note, some children with
DS and no clinical seizures have EEG abnormalities that may complicate
interpretation.
New-onset of focal weakness is relatively common and has a
broad differential diagnosis. Etiologies found in a review of ten cases
included: infarction related to Moyamoya, vaso-occlusive disease, or venus
sinus thrombosis, traumatic subdural hematoma, brain abscess, spinal cord
injury (from cervical spine stenosis and/or atlanto-axial instability
(AAI)), and brachial plexus injury. [Worley: 2004]
Dementia - By age 40, Alzheimer-type neuropathologic
abnormalities are found in all patients with DS, with or without clinical
dementia. [Lott: 2012] More than half of
individuals older than 50 years develop Alzheimer's disease (AD). Early
onset epilepsy is associated with decreased risk of Alzheimer's, whereas
late onset epilepsy is associated with increased risk. [Menéndez: 2005]
Myelopathy may result from AAI or subluxation of the
occiput on C1 due to the ligamentous laxity seen in some patients with
trisomy 21.
Mental Health/Behavior Dual diagnosis refers to the co-existence of intellectual
disability and a psychiatric disorder, which affects 18-38% of individuals with DS.
[Capone: 2006] Co-morbid neuropsychiatric disorders
include ADHD, autism spectrum disorders, stereotypical movements, oppositional
defiant and disruptive behavior disorders, anxiety, depression, obsessive-compulsive
disorder, and, rarely, psychosis. A summary of behavioral disorders, their
presentation and treatment can be found in the following articles: Neurobehavioral
Disorders in Children, Adolescents, and Young Adults with Down Syndrome.
[Dykens: 2007]
[Capone: 2006] Other sections of the Medical Home Portal
may be helpful, including those on Autism Spectrum Disorder, Anxiety Disorders, Depression , and Attention Deficit Hyperactivity Disorder (ADHD).
Concerns about focus, attention span, activity level and/or impulsiveness
(Attention deficit disorder ) are common. In a 2017, prevalence
study in Sweden, about 1/3 of children with Down syndrome met diagnostic criteria
for ADHD. [Oxelgren: 2017] Of these, many also met criteria
for an autism spectrum disorder. The following should be considered in the
evaluation of attention problems:
Hearing deficits
Vision deficits
Thyroid disorders
Sleep problems (e.g., sleep apnea can contribute to
impaired attention)
Impaired expressive communication
Education setting not appropriate for cognitive level or
learning style
Autism spectrum disorder (ASD) in children with DS is more
common than previously thought using earlier diagnostic criteria and may be as high
as 40% in children with DS. ASD is also more common in boys than girls with DS.
[Oxelgren: 2017] Many children with DS and ASD also met
criteria for ADHD. Standardized autism rating scales have not been validated in
individuals with DS. It is therefore recommended that existing DSM criteria be
rigorously applied over multiple observations in different settings. The accuracy or
utility of a co-morbid diagnosis of ASD in children with profound cognitive
impairment (IQ<25) has been questioned. Regressive autism has been noted to occur
in children with DS at an older age than seen in children without DS who have an
autistic regression. Although confirming an ASD diagnosis may be more challenging in
the setting of DS, a separate ASD diagnosis is likely to help in accessing
interventions such as applied behavioral analysis.
Depression in individuals with DS was researched in a 2011
review, which found rates ranging from 0-11%. In contrast to previous thought that
people with DS are at higher risk for depression, this review concluded that the
rates are not all that different from the general population. Onset of depressive
symptoms tends to occur in adulthood, although can occur earlier, and should be
distinguished from hypothyroidism and dementia. [Walker: 2011]
Ears/Hearing Hearing loss which may be sensorineural, conductive, or mixed
in etiology, can occur at higher rates in children with DS, and children ages 3-5
with DS have a 50-70% risk of serous otitis media. [Bull: 2011] During early development, even minor hearing impairment can
negatively impact language and cognitive development - by adulthood, 60-80% have
hearing loss.
Sino-pulmonary disease, including recurrent/chronic sinusitis and
otitis occurs at higher rates. Children with DS may also have
auditory processing deficits that affect word perception, short-term auditory
memory, and sequential auditory memory. The following may be helpful for families:
Hearing and Vision Loss Associated with Down Syndrome (TSBVI).
Eyes/Vision Individuals with DS are at risk for: [Bull: 2011]
Nystagmus
Strabismus
Cataracts, including congenital and
acquired
Lacrimal duct obstruction
Refractive errors (50% of children ages 3-5) leading to
amblyopia
Endocrine Thyroid disorders, both congenital and autoimmune
hypothyroidism, occur with increased frequency. Congenital hypothyroidism occurs in
about 1% of children with DS. [Bull: 2011] Many children
will develop euthyroid autoimmune disease, evidenced by a slightly elevated TSH,
normal free T4 level and positive thyroid antibodies. Although opinions vary about
if and when to treat this, most endocrinologists do not treat if the child is
growing well and theTSH is less than 10-12. These children should be monitored, but
it may be many years before they develop a need for medications. Younger children
require more frequent monitoring given the impact of hypothyroidism on brain development.
Short stature is common. The current guidelines recommend
using standard growth charts rather than DS charts however subsequently updated
growth charts were published that have improved characteristics. These updated
height, weight, and OFC growth charts are quite useful. However, the BMI growth
charts were impacted by a high prevalence of obesity in the study population and
authors recommend they not be used.
Autoimmune Disorders The following are associated with DS:
Celiac disease (~5%): [Bull: 2011]
[Book: 2001] Note that about a third of individuals
with Down syndrome and celiac disease have no overt clinical symptoms.
[Pavlovic: 2017] See Celiac Disease for more
detail.
Alopecia
areata (photo, right): Asymptomatic non-scarring hair loss with spontaneous
remissions and exacerbations, often in combination with vitiligo. Alopecia
may be localized or may involve the entire scalp or body. Children with
alopecia/vitiligo should be carefully evaluated (history and physical) to
identify any other associated autoimmune conditions.
Many other disorders thought to be
autoimmune in nature have been reported, including multiple sclerosis, demyelinating
neuropathy, and systemic lupus erythematosus. Though more common in adults, these
disorders have been reported in children with DS. The mechanisms for autoimmune
disease in DS are poorly understood. They may occur in combination and are more
common in patients with certain HLA markers. In childhood, screening is only
recommended for thyroid dysfunction and those with symptoms suggestive of celiac
disease. However, the clinician should monitor for signs and symptoms of all of
these conditions and assess when indicated.
Orthopedics Hypotonia, ligament laxity, and increased joint flexibility lead to
orthopedic concerns. Individuals may also exhibit skeletal differences, such as a
thin, weak acetabular capsule, femoral anteversion, and a deficient posterior
superior acetabulum that may contribute to orthopedic problems. Orthopedic issues include:
Hip: Up to 8% may have hip problems, including
developmental dysplasia of the hip (in this population, hip problems may
begin after skeletal maturity and may significantly affect functional
ambulation), avascular necrosis, and slipped capital femoral epiphysis.
Lower leg: Genu valgum, patellar dislocation
Feet: Planovalgus, metatarsus primus varus, hallux valgus
Increased risk for low bone density and vitamin D
deficiency
Atlanto-axial instability: While 13-14% of patients with
Down syndrome show evidence of atlanto-axial instability (AAI) on x-ray,
only 1-2% have symptoms that require treatment. Parents should be educated
to notify their physician if their child has:
Neck pain
Persistent head tilt
Intermittent or progressive weakness
Changes in gait or loss of motor skills
Loss of bowel or bladder control
Increased or decreased muscle tone in the legs
Changes in sensation in the hands or feet
Dermatologic Individuals with DS are at risk for:
Atopic dermatitis
Syringomas
Benign skin tumors arising from sweat glands commonly about
the eyes/face
Norwegian scabies (crusted scabies)
Xerosis
Milia-like idiopathic calcinosis cutis
Skin infections, such as bacterial or fungal folliculitis
Elastosis perforans serpiginosa: deep red raised lesions
often occurring about the neck, chest, and arms
Angular cheilosis
Vitiligo
A number of benign dermatologic differences are also described including:
Acrocyanosis in the newborn
Cutis marmorata (may be present up to several months of age
in infants with DS)
Hyperkeratosis of palms and soles
Urologic The following conditions have been reported in infants with DS:
Renal hypoplasia
Hydro-uretero-nephrosis
Uretero-vesical and uretero-pelvic junction obstruction
Vesico-ureteral reflux
Posterior urethral valves
Cryptorchidism
Testicular cancer
Infertility (present in most but not all males with Down
syndrome)
Developmental Children with DS are at increased risk for:
Delayed gross and fine motor development: Motor delays are
secondary to hypotonia, ligamentous laxity, decreased muscle strength, and
altered body proportions (shorter arms and legs).
Social-emotional developmental concerns: Delays in
social-emotional development can occur especially in children with Down
syndrome who also have an autism spectrum disorder
Sensory integration concerns: Many children are sensitive
to touch, manipulation, and textures in and around their mouth and other
parts of their body. Sensory issues may affect oral motor skills, the
ability of the parents to care for the child (e.g., dental and facial
hygiene, feeding), and the willingness/ability of the child to eat a variety
of tastes and textures. Sensory integration issues may be important in
expressive communication since producing communicative responses requires
processing and integrating sensory input.
Oral motor impairments: In early development, infants may
be at risk for inadequate nutrition due to poor oral motor coordination and
low tone. As children mature, additional oral motor problems may include
difficulty with different textures, drooling, and verbal apraxia.
Cognitive concerns: Varying deficits in remembering and
understanding sequences
Executive function problems: Can present as symptoms
consistent with ADHD, a common comorbid condition
History & Examination
The initial evaluation of the child with suspected DS should focus on the prenatal, medical, and developmental history, as
well a complete physical and developmental evaluation as outlined below.
Follow-up visits should begin with open-ended questions about patient/family concerns and issues. Review progress since last
seen and intercurrent illness or evaluations. Specific symptoms and current treatment plan for underlying conditions (e.g.,
cardiac, thyroid, gastrointestinal) should be reviewed.
Current & Past Medical History
Document past and present co-morbid conditions, including prior evaluative (e.g., cardiac echo, swallow study, sleep study)
and surgical procedures. A full review of symptoms is helpful, given the myriad co-morbid conditions associated with DS. Of
particular concern are cardiorespiratory, sleep, feeding, gastrointestinal symptoms, learning/behavior, signs or symptoms
of myelopathy, and concerns regarding hearing and vision.
Family History
A 3-generation pedigree is indicated, though a family history of DS or another chromosome abnormality is unlikely. The incidence
of aneuploidy in offspring increases with parental age, particularly maternal age. A family history of pregnancy loss, especially
miscarriages, can suggest a familial translocation.
Pregnancy/Perinatal History
The pregnancy and perinatal history may include:
Abnormal prenatal ultrasounds (e.g., polyhydramnios,
suggesting duodenal obstruction, or minor ultrasound findings, such as
redundant nuchal skin and increased nuchal
translucency)
Abnormal first and second trimester maternal screening
(including confirmation of diagnosis by amniocentesis or chorionicvillus
sampling in some patients)
Detection of structural defects (including the prenatal
diagnosis by ultrasound of cardiovascular malformations or duodenal
atresia)
Developmental & Educational Progress
The child's functional abilities are key to
management. Assess the child’s method and level of expressive communication and
his/her understanding of language. Many children with DS have significantly
higher receptive than expressive language abilities sometimes related to verbal
apraxia and sometimes related to ASD. Typical DS language milestones include:
Smiling by 2 months (SD 1.5-4 months)
Verbalizing single words by 16 months (SD 9-31 months)
Verbalizing early phrases by 28 months (SD 19-96
months)
Average ages for attainment of gross motor skills in DS
include:
Rolling stomach to back by 6 months
Rolling back to stomach by 7 months
Sitting independently at 11 months
Belly crawl (>5 ft) by 14 months
Pull to stand from hands and feet by 17 months
Independent standing (>10 sec) by 21 months
Walking (15-20 ft) by 26 months
There is wide variation around these averages, and the child
with ongoing medical issues (e.g., repeated illness or surgeries) may exhibit
further delays. However, it is a pitfall to blame excessive delays on medical
issues without carefully considering the potential for co-morbid conditions such
as hearing loss or autism. Review the services the child receives through early
intervention, the school district, or private therapy providers, the child's
rate of progress, and parents' satisfaction with current services.
Inquire about family, teacher, therapist, and other
caregiver concerns regarding development, attainment of functional goals, ADHD
or ASD symptoms and/or behavioral challenges. Skills in activities of daily
living, eating, and community integration should be discussed with goals set for
each.
Behavior challenges are common, including sleep
and feeding concerns, internalizing/externalizing behaviors, and poor social
inclusion. Consider whether problem behaviors and their frequency and intensity
are consistent with the child's functional abilities. The 5-year-old whose
receptive language skills are at the 3-year level is likely to have temper
tantrums, a relatively short attention span, some oppositional behavioral and
aggression. Prolonged temper tantrums, extreme irritability, or pervasive
oppositional behavior would not be expected, and additional evaluation and
behavioral supports would be indicated. Determine how these behaviors affect
family functioning and what supports the family has to manage
them.
Maturational Progress
Pubertal development should be expected within the same age parameters as for children without DS.
Social & Family Functioning
The understanding of DS by parents, siblings, and extended
family members and their adaptation to the child's special needs should be
discussed. When you meet with a family whose child has just been diagnosed,
asking family members if they have known someone with DS often uncovers
preconceived notions about outcomes. Ask about awareness of community resources
for health care funding (e.g., Medicaid and relevant waivers, caveats of private
insurance, including benefit exclusions and mechanisms to advocate for
appropriate funding), financial supports (e.g., SSI and role of Workforce
Services), services to optimize development and function (e.g., early
intervention, developmental preschool, special education, inclusion models,
private therapies, augmented communication supports), respite, appropriate
recreational/social outlets, and transition (e.g., vocational rehabilitation,
guardianship association).
Current functional goals,
intervention supports, and adaptive equipment should be reviewed to identify
gaps in needed support. Ensure families have access to information on life and
financial planning for their child. Include the child in these discussions at a
developmentally appropriate level. Pubertal development, self-exploration,
menstrual hygiene, and sexuality should be discussed as the child approaches
adolescence.
At all ages, ask about safety concerns,
such as taking off in parking lots (consider a DMV form for a disability parking
pass), refusing to wear a seat belt (consider an adapted car seat), and
wandering (consider a tracking device and safety measures to prevent opening the
house doors). Discuss approaches to prevent sexual victimization (e.g.,
discussing at the child’s level appropriate/inappropriate touch, teaching normal
sexual function if appropriate for the teens cognitive level, encouraging
parents to ensure all programs the child participates in have policies on
prevention, and having family members treat the teen with appropriate body space
behaviors for age).
Physical Exam
General
In a child with suspected DS, the presence of minor anomalies should be documented. Because these may contribute to parents'
concern about the stigma of DS, reassurance about their presence is important. Common minor anomalies include:
Upward-slanting eyes
Inner epicanthal folds
Small upturned nose with saddle bridge
A protruding tongue that develops fissures with age
Brushfield spots
Small ears
Short neck with redundant skin folds
Brachycephaly
Flat occiput
Single palmar (simian) crease
Wide space between first and second toes (sandal toes)
Clinodactyly of the fifth finger
All of these can be found in individuals without DS. The presence of multiple such anomalies raises suspicion for DS or another
genetic syndrome. After chromosome results are available, the minor anomalies play little role in health care decisions.
Vital Signs
Document baseline vital signs and oxygen saturation: Since Bright Futures does
not recommend BP measure for the typical healthy child untill age 3 years,
office staff may need to be guided to specifically check BP at well-child
checks for children with DS. This is particularly important if the child has
cardiovascular issues.
Growth Parameters
Height, weight, and head circumference (OFC) should be plotted on
typical growth charts. DS growth charts were published in 2015 and are
helpful for height, weight, and OFC. Nutritional status should also be
assessed with weight for height (under age 2 years) and BMI (over age 2
years). The authors of the DS growth charts felt they should not be used for
assessment of BMI as they were impacted by a high rate of obesity in the
study population, rather typical growth charts should be used to assess the
appropriateness of weight for height (WHO curves) and BMI (CDC
curves).
Skin
Note dry skin, cheilitis, evidence of skin infection, eczema, thickened skin on palms or soles, vitiligo and alopecia.
HEENT/Oral
Assess extra-ocular movements, ocular alignment, pupil response, and presence of nystagmus. Abnormal red reflex or corneal
clouding may indicate cataract. Look for evidence of nasolacrimal duct obstruction or chronic blepharitis. Look for middle
ear effusions, evidence of chronic sinus infection, or poor nasal flow suggesting adenoidal enlargement. Monitoring for persistent
middle ear fluid is critical, though often very difficult without special equipment (due to often very narrow ear canals)
and clinical signs of persistent effusion may be minimal. Some clinicians recommend routine referral to an ENT for optimal
monitoring. Tonsillar and adenoidal hypertrophy may contribute to airway obstruction. Palpate for thyroid enlargement or
nodules.
Chest
Observe for signs of airway obstruction and or chronic lung disease.
Heart
Assess for murmurs, abnormalities in the first and second heart sound, or evidence of heart failure.
Abdomen
Bloating may be seen in children with celiac disease or chronic constipation. Hepatomegaly may be seen with congestive heart
failure. Due to low tone, a protuberant abdomen is common. Umbilical hernias and diastasic recti are also very common.
Genitalia
Many infants with DS have a supra pubic fat pad that buries the base of the
penis. Many parents will have concerns for micropenis, but in most cases,
compression of this fat pad will reveal a normal phallus. This fat pad can
also create challenges with circumcision if it creates pressure on a
plastibel or can lead to a circumferential adhesion of redundant penile skin
around the glans after circumcision if parents are not carefully retracting
any redundant tissue on a daily bases during diaper changes. Assess Tanner
stage. Testicular examination during yearly physical exam is important,
particularly in patients unlikely to do self-exams.
Extremities/Musculoskeletal
Monitor skeletal alignment; individuals with DS are at
increased risk for scoliosis. Examine for evidence of hip abnormalities,
including dysplasia, slipped capital femoral epiphysis (SCFE), dislocation,
and avascular necrosis of the femoral head (AVN). Pes planus is common but
rarely requires intervention. Observe gait for asymmetries, hyperextension
at the knees, foot inversion or eversion. Many children have atypical gaits
in part due to poor motor control and low tone; some children with DS will
benefit from orthotics.
Neurologic Exam
Regular assessment of hypotonia allows for periodic discussion of developmental progress and prognosis. Children with more
extreme hypotonia may experience slower gross motor progress. Monitor for seizures through clinical history.
Since patients who have experienced atlanto-axial dislocation generally have had warning signs, it is important to monitor
for signs or symptoms of chronic spinal cord injury. Observe for head tilt or limitations in neck range of motion that suggest
AA instability. The yearly physical should include examination of reflexes, including the Babinski. A child with symptoms
should have immediate evaluation.
Testing
Sensory Testing
Vision Following a normal routine newborn examination, the AAP counsels
consideration of referral to an ophthalmologist within the 6 months of life.
[Bull: 2011] Follow-up with a pediatric
ophthalmologist, or general ophthalmologist familiar with DS, should occur
annually for 1- to 5-year-olds, every 2 years for 6- to 13-year-olds, and every
3 years for 14- to 21-year-olds.
Hearing In addition to assessment by history at every well-child visit,
AAP guidelines suggest: [Bull: 2011]
Test by an objective method (e.g., otoacoustic
emissions, brainstem auditory evoked response) at birth.
Repeat assessment "by objective method" or behavioral
screening plus tympanometry every 6 months until normal ear-specific
hearing is confirmed (usually around age 4).
Attempt first behavioral audiogram by 1 year and repeat
annually after normal ear-specific hearing is confirmed.
Objective hearing assessment should be repeated
whenever there is parental concern or evidence of persistent middle ear
effusions.
Tympanometry may be helpful in the cooperative child to
detect normal motility or presence of effusions.
Thyroid stimulating hormone (TSH) at newborn screen, 6 months, and
annually. Check additional thyroid function tests if the TSH abnormal.
Some experts recommend measuring thyroxine level (free T4) or thyroid
antibodies routinely along with TSH screen; however, there is no
consensus among international guidelines. In the event of a mildly
elevated TSH, obtain a free T4 (to determine need for treatment) and
measurement of thyroid antibodies may help to identify those with
evolving autoimmune thyroid disease; however, only a minority will
progress to hypothyroidism, and no consensus exists on the need to treat
subclinical hypothyroidism.
Celiac testing (e.g., celiac reflexive panel which guides testing based
upon age and serum IgA level for optimal sensitivity) if any suggestive
symptoms. While there is lack of expert consensus on whether to
routinely screen children with DS for celiac disease, the AAP recommends
screening for symptoms that may be related to celiac disease in children
with DS at yearly visits and perform serologic screening if symptoms are
present. Some expert groups now recommend one-time testing of HLA-DQ2
and HLA-DQ8 to help exclude those individuals who are not at risk for
celiac disease. [Bull: 2011]
[Pavlovic: 2017]
Complete blood count with differential in the newborn period to screen for myeloproliferative disorder and polycythemia. Monitoring
for resolution of the myeloproliferation (and continued intermittent monitoring until 3 years of age even after resolution)
with a CBC is indicated in children who have had transient myeloproliferation.
Hemoglobin annually. Guidelines recommend yearly monitoring of hemoglobin and historically asking about risk factors of iron
deficiency. Screen with a CRP/ferritin (or reticulocyte hemoglobin) yearly if there are any risk factors for iron deficiency
or if the hemoglobin is <11.
Imaging
An echocardiogram should be performed on every newborn with DS to rule
out a cardiac defect. In children diagnosed with obstructive sleep
apnea, evaluation with an echocardiogram may be indicated on an
intermittent basis to assess for pulmonary hypertension.
Echocardiographic screening has been recommended in the AAP treatment
guidelines for ages 13-21 if "there is a history of increasing fatigue,
shortness of breath, or exertional dyspnea or abnormal physical exam
findings, such as a new murmur or gallop." [Bull: 2011]
Consider a KUB in any newborn with DS if there is concern for duodenal
atresia (double bubble sign). Additional assessment with upper
gastrointestinal series (upper GI) and/or barium enema should be
considered to assess anatomy in infants with gastrointestinal
symptoms.
Obtain an "unprepped" barium enema for any concern for Hirschsprung
disease.
Neuroimaging is not routinely indicated but should be considered in a child with macrocephaly or severe microcephaly beyond
that typically observed in DS, a child whose development seems atypical for DS, any child with a change in neurologic functioning
or developmental regression, and a child who has abnormalities on neurologic examination that cannot be attributed to DS.
The AAP guidelines do not recommend universal screening of infants with DS for renal and urologic abnormalities. However,
any child with DS and urinary symptoms (e.g., UTI, difficulty with voiding, unexplained enuresis) should have an evaluation
of the urinary tract.
Although not all sports programs have caught up with this recommendation,
the AAP guidelines do not recommend screening for upper cervical spine
instability unless symptomatic. The normal atlas-dens interval is less
than 3.5 mm in children but may normally reach 5 mm in children with DS.
If signs or symptoms of atlanto-axial instability emerge, evaluation
should proceed with c-spine x-rays (neutral position followed by
flexion/extension only if no abnormality is seen), neuroimaging, and
consultation with neurosurgeon or orthopedic surgeon with expertise
Genetic Testing
Newborns can be screened for trisomy 21 with a fluorescent in situ
hybridization (FISH) test when there is clinical suspicion. If the FISH screen
is positive, it should be confirmed with a complete karyotype. [Bull: 2011] In utero diagnostic testing with CVS or
amniocentesis nears 100% accuracy and distinguishes among the genetic types of
DS: trisomy 21, translocation, and mosaicism. If a screen or cell free DNA
during gestation was abnormal but in utero diagnostic testing was not completed,
a karyotype should be completed in the newborn period to confirm the diagnosis
and genetic etiology.
Fluorescent in situ hybridization (FISH) testing
usually takes 1-4 days; results are not diagnostic. [Bull: 2011]
A karyotype performed on lymphocytes confirms the
diagnosis and genetic type. e. [Bull: 2011]
Karyotypes may take 10 or more days.
Genetic studies should be subsequently offered to the
parents only when the child has a translocation. Prenatal diagnosis in
future pregnancies, either with chorionic villous sampling at 10-13
weeks or amniocentesis at 15-20 weeks, is usually offered.
Preimplantation testing is also available to screen blastomeres for
aneuploidy and translocations, but the cost is substantial since this
process requires in vitro fertilization and ICSI (intracytoplasmic sperm
injection).
It is critical for the clinician to understand that not
all insurances will fund genetic testing and its expensive. Some
insurances will not approve a karyotype if the child had a positive cell
free DNA in utero or a positive FISH. This is because, if clinically the
child has DS, they do not consider knowing if it is a translocation or
mosaic medically necessary (it does not change treatment, recurrence
risk assessment is medically indicated for the parents but not the
child). In general, no testing should be sent without prior
authorization. This is particularly true on the outpatient side, but
insurances will sometimes deny testing sent inpatient,
too.
Other Testing
Sleep Study Obtain a sleep study by age 4 or sooner if any symptoms of sleep
apnea or other non-behavioral sleep problems are noted, such as restless legs.
Modified Barium Swallow (MBSS) Guidelines
recommend evaluating for aspiration with an MBSS in any infant with suggestive
symptoms, including marked hypotonia, slow feeding, choking,
recurrent/persistent respiratory symptoms, or failure to thrive. This will be
particularly helpful if a speech and language pathologist is present during the
study to assess and make recommendations.
Electroencephalogram (EEG) An EEG can be obtained if there are concerns for seizures.
Particularly helpful to evaluate developmental pattern/progress, evaluate for concerns such as autism, recommend services
to optimize development and to evaluate older children with behavioral or learning concerns.
Depending upon sedation needs and the policies of the echo center, obtaining the recommended echocardiogram may require referral
to a pediatric cardiologist. Children with cardiac lesions need long-term follow-up.
If hearing screening is not provided by the early intervention program or school, referral to audiology will be needed. Children
who fail screening or for whom the parents have concerns about hearing or auditory processing should be referred to audiology.
Children with hearing impairment should be followed routinely.
Guidelines recommend evaluation by an ophthalmologist by 6 months of age (sooner if the red reflex or another aspect of the
eye examination is abnormal) and on an ongoing schedule.
May be helpful in diagnosis, evaluating recurrence risk and prenatal testing
options (particularly in the case of translocation-related DS), and
counseling the family regarding etiology and outcomes.
May be indicated when a child has neurologic findings that are not commonly seen (e.g., tremor, nystagmus, severe hypotonia),
atypical neurologic findings (e.g., spasticity, ataxia), relative microcephaly or macrocephaly, developmental delays beyond
those typically seen, or any regression in development or neurologic function.
Very helpful if there are concerns about sleep apnea or poor sleep.
Treatment & Management
Overview
Since there is no treatment for the underlying genetic abnormality in Down syndrome (DS), treatment focuses on the management
of comorbid conditions and optimizing outcomes related to function and societal participation.
Pearls & Alerts for Treatment & Management
Respiratory infections can cause hospitalization after NICU discharge
Respiratory infections, such as pneumonia and bronchiolitis, are second only to congenital heart disease as causes for hospitalizations
and are associated with increased morbidity and mortality compared to other children hospitalized for the same infections.
Altitude and pulmonary edema
A case series of high-altitude pulmonary edema was reported that included 6 children with Down syndrome. [Durmowicz: 2001] These children travelled up to moderate altitudes (1738-3252 feet) within a short period of time (several in under 24 hours)
and developed pulmonary edema. Among the 6 children reported, 4 had congenital heart defects, 3 had chronic pulmonary hypertension,
and 5 had developed an intercurrent illness just prior to their travel. The author suggested that care should be taken when
traveling to even moderate altitudes with children with DS. Other authors have suggested an increased risk for those with
obstructive sleep apnea perhaps related to altered chemo responsiveness to hypoxia. [Richalet: 2008]
Atlanto-axial instability
New onset of focal weakness or bowel/bladder incontinence merits urgent neurosurgical consultation. More of my time is spent
these days explaining why x-rays are not needed to screen, helping them know the signs to watch for (and that these are rare
but important to take seriously), and encouraging them to have their child participate in sports avoiding the very few activities
that guidelines suggest restricting (head first diving, trained tumbling (toddlers are going to do it and stopping them just
wants to make them do it more), rugby, trampoline before 6 years of age and after that ensure supervision).
Polycythemia and sleep apnea
Increased red blood cells may be noted in the setting of chronic sleep apnea.
Psychoactive medications
Many children with neurodevelopmental disorders are sensitive to psychoactive medications. Use very low doses (e.g., half
the starting dose for a neurotypical child) when starting medications, such as SSRIs, and titrate slowly to avoid activation
and other side effects. Having said that, many children with DS benefit from careful management of mental health issues with
medications such as stimulants for ADHD, SSRIs for depression or anxiety, and mood stabilizers for self-injury in the face
of ASD.
Anticipatory well care
Safety and toilet training (often as part of the child’s IEP) are often overlooked in the fray of the child’s medical needs,
but they are critical to include in the child’s preventive care discussions.
How should common problems be managed differently in children with Down Syndrome ?
Growth or Weight Gain
The most current guidance is to use a standard growth chart complemented by use of the DS growth charts published in 2015
(and not the widely distributed DS growth charts previously published).
Development (Cognitive, Motor, Language, Social-Emotional)
Be aware that some but not all children with DS may also have an autism spectrum disorder (ASD). Formal evaluation for an
ASD in the context of DS should be performed by a specialist. Evaluation can be helpful in accessing services specific to
treatment of ASD, such as ABA therapy. See Autism Spectrum Disorder for more details.
Viral Infections
Children with DS can have significant morbidity from viral respiratory
infections, particularly in the face of a heart defect, pulmonary hypertension,
severe LTM, or significant sleep obstruction. Some children may qualify for
Synagis to reduce the risk of RSV infection; based on age and co-morbidities,
influenza vaccination should be encouraged. Many children have had recurrent
croup, and proactive provision of single dose steroids can be
helpful.
Bacterial Infections
Due to narrow ear canals, it can be challenging to visualize tympanic
membranes in children with DS and sometimes the clinician really cannot tell but
suspects given the clinical scenario (e.g., the child has had a URI for a number
of days and suddenly becomes febrile and sleeping poorly). In some cases, the
clinician may have to make a judgement call. Over time work with an Ear, Nose,
Throat specialist (otolaryngologist) to determine if persistent effusions are
present and to place tubes for recurrent middle ear infections. Children with DS
do have an increased prevalence of sinusitis. Many children with DS will benefit
from a Pneumovax vaccination at age 2 years based upon
co-morbidities.
Prescription Medications
Many children with neurodevelopmental disorders are sensitive to
psychoactive medications. Use very low doses (e.g., half the starting dose for a
neurotypical child) when starting medications, such as SSRIs, and titrate slowly
to avoid activation and other side effects. Review with families carefully
potential side effects (e.g., agitation, insomnia) and targeted symptoms (e.g.,
anxiety, impulsivity, depression symptoms).
Other
Many children with DS have significant oral sensory symptoms. Consideration of this
when prescribing oral medications (e.g., pill crushed vs. liquid vs. sprinkles,
compounding for taste) may help with compliance.
Systems
Cardiology
Congenital heart defects are found in 44% of infants with DS. [Plaiasu: 2017] Children with DS are more likely than other
children with similar congenital heart defects to develop increased
pulmonary vascular resistance. Fixed pulmonary vascular obstructive disease
can be seen before the first birthday and may present as an apparent
paradoxical improvement in cardiac symptoms. Because of this, optimal timing
of surgical repair differs from that for similar cardiac lesions in children
without DS. The primary care clinician to apprise the child’s cardiologist
of any development of signs or symptoms of airway obstruction or sleep apnea
as these may impact the child’s cardiac management.
Children with DS and congenital heart disease should
receive all routine childhood immunizations, the importance of the influenza
vaccine should be discussed and Pneumovax and RSV prophylaxis may be
indicated for some children Endocarditis prophylaxis prior to dental
procedures will be indicated in select patients. See the Dental and Oral Health Screening page for
guidelines.
Adults with DS are at increased risk of
valvular dysfunction, arrhythmias, and coronary artery disease. [Lin: 2008]
To identify or manage a sleep disorder or sleep disordered breathing. A
sleep study can help to identify the type (obstructive, central, or
mixed) and severity of suspected sleep apnea, as well as other sleep
disorders such as restless leg syndrome.
Nutrition/Growth/Bone
Nutritional monitoring/intervention is critical to prevent
over/undernutrition and to promote self-feeding. See Nutrition under
comorbid conditions for nutritional risk factors. Suboptimal growth is
characteristic and begins during gestation. Growth should be plotted and
followed on the same growth charts used for children without DS as well as
the growth charts for DS published in 2015. [Bull: 2011] See Down Syndrome Growth Charts (CDC).
Some
children will need significant support during the first few weeks of life to
attain success with nursing or bottle feeding – these may include
positioning, special nipples, thickening of formula, special feeding
techniques (e.g., chin or jaw support), more frequent feeding, higher
calorie formulas, or supplemental tube feedings. A speech therapist or
occupational therapist can assess the child's suck and make recommendations
regarding feeding technique. A low threshold should be maintained for a
video/modified barium swallow to assess safety and optimal thickness of
liquids.
Feeding therapy may also be important in
the second half of infancy if a child has difficulty accepting new tastes or
textures. Some children who have not had aspiration issues can develop
concerns so even if a swallow study has been performed previously, a low
threshold should be maintained to repeat if there are concerns suggestive of
aspiration. Some children with DS appear to have limited satiety cues, and
the family may need to structure portions to prevent excessive eating. A
referral for behavioral support may be important to help a family implement
a healthy diet, a structured feeding plan (e.g., the child refuses to eat at
meal times and grazes all day), dietary changes for excessive weight gain or
has food seeking behaviors. Consider prescribing a standard multivitamin to
ensure adequate vitamin and mineral intake.
Consider
testing for thyroid dysfunction and celiac disease in children with
inadequate linear growth. However, feeding behavior and dysphagia concerns
are certainly frequent causes of failure to thrive than thyroid or celiac
disease. Growth hormone markers should be checked if the growth pattern is
suggestive of growth hormone deficiency (e.g., failed linear growth despite
good nutritional reserves).
Helpful in assessing nutritional status and adequacy of caloric intake, recommending special formulas and/or nutritional supplements,
determining safety of nutritional supplements used for complementary therapy, and may guide the treatment of obesity.
May provide evaluation and intervention to optimize communication (verbal or using augmentative approaches) and cognitive
abilities. In some communities, they take the role of feeding therapists. In some cases, the speech and language pathologist
who is evaluating the child through early intervention can evaluate the child's feeding skills.
Can provide intervention focused on feeding, as well as the treatment of the oral sensory issues that may affect feeding,
dietary choices, behavior, and function. In some cases, the occupational therapist who is evaluating the child through early
intervention can evaluate the child's feeding skills.
Respiratory
Children with DS are predisposed to pulmonary conditions that can lead to
recurrent acute illness and/or chronic lung disease. For more detail, see
the Respiratory section under Comorbid Conditions in Down Syndrome , Initial Diagnosis
above. Strongly consider administration of the polysaccharide pneumonia
vaccine (23-valent), as early as age 2, and encourage annual influenza
vaccination. RSV prophylaxis may be indicated in some patients. [Watts: 2013]
Management of chronic lung disease is similar to
that in patients without Down syndrome. The Portal's Asthma provides helpful information on the
diagnosis and treatment of asthma/chronic airway inflammation; however,
wheezing in DS often does not stem from asthma (although children with DS
can have asthma like any other child!) and therefore its some cases will be
less responsive to bronchodilators and controllers. Involvement of a
pulmonary specialist can be helpful to manage decisions regarding the use of
these.
Consider an immunology evaluation and/or
evaluation for gastro-esophageal reflux and/or oral aspiration in children
with repeated pneumonias, other pyogenic lung infections, or chronic lung
disease.
High altitude pulmonary edema can occur in
children with Down syndrome. Care should be taken when traveling to moderate
altitudes, particularly for those with cardiac defects, pulmonary
hypertension, or obstructive sleep apnea that might contribute to altered
chemoresponsiveness to hypoxia. [Watts: 2013] If
parents note symptoms, they should retreat to a lower threshold and seek
care emergently if symptoms persist. If the symptoms resolve, they should
discuss with their clinicians a plan to manage future travel to higher
elevations.
May be helpful for children with recurrent or persistent pulmonary symptoms, chronic lung disease, chronic respiratory symptoms,
recurrent pneumonia, or acute compromise in breathing/air exchange.
Sleep
Sleep apnea occurs in 30-60% of children with DS and may be asymptomatic. [Farhood: 2017] See the Comorbid Condition section in Down Syndrome , Initial Diagnosis, above, for a discussion of the factors contributing to sleep apnea and suggestive symptoms. Evaluation should include a
sleep study (note: nap studies may be significantly less sensitive than overnight studies). although insurance funding issues
and children’s sensory and anxiety based behavioral issues can sometimes impact the reality of getting a sleep study. The
following may also be indicated:
Echocardiography: If a sleep study is positive for obstructive sleep
apnea, an echo helps to evaluate for pulmonary hypertension. Over
time a child may need a repeat echo if the OSA persists,
particularly if treatment is ineffective or adherence is poor.
Chest radiography may be considered if there is cancer for comorbid chronic lung disease
Hemoglobin: Chronic hypoxia due to OSA may result in polycythemia
Serum bicarbonate and/or early morning blood gas will help determine the
extent of carbon dioxide retention. This can be ordered as part of
the sleep study if there is clinical concern for hypoventilation.
Evaluation by a pulmonologist boarded in sleep medicine and by an ENT specialist should be considered for all children with
OSA to develop an optimal treatment plan
Consider evaluation for gastro-esophageal reflux if there are suggestive symptoms
Interventions may include:
Adenoidectomy and tonsillectomy are often successful in improving symptoms, although often symptoms do not completely resolve
and may require additional interventions such as CPAP.
Post-operative apnea is a frequent complication, suggesting a need for longer postoperative monitoring. [Farhood: 2017]
[Nation: 2017]
A follow-up sleep study should be considered approximately 6-8 weeks after surgery
A sleep endoscopy may be performed in some patients to determine anatomic contributors to obstruction, particularly if tonsils
and adenoids do not appear to be the problem clinically.
Treatment for chronic sinusitis, allergies, or GERD may be helpful in the child with suggestive symptoms. [Brouillette: 2001]
The use of nighttime oxygen and/or continuous positive airway pressure
(CPAP) may be recommended. Some patients are treated with high flow
nasal cannula oxygen although the role of HFNC vs. CPAP is yet to be
clarified. Patients often do not tolerate these devices due to oral
hypersensitivity so a behavioral desensitization program may be
necessary. Parents need extensive support as they face many
challenges (sometimes insurmountable) in providing these treatments,
are often frustrated, and are often extensively sleep deprived.
A plan for lifestyle intervention should be discussed with the family If
obesity is contributing to OSA
Other surgical procedures may be indicated when the above have failed (e.g., uvulopalatoplasty, tongue reduction surgery,
tracheostomy)
Helpful in diagnosing and managing a sleep disorder or sleep disordered breathing. A sleep study can help identify sleep apnea
and its cause, as well as other sleep disorders such as restless leg syndrome.
Indicated in almost all children with documented or suspected obstructive sleep apnea to determine the contributors such as
enlarged tonsils, adenoids, laryngomalacia.
Consider referral for children with significant sleep apnea and concern for pulmonary hypertension.
Hematology/Oncology
Obtain a CBC in the newborn to screen for transient myeloproliferative
disorder and polycythemia. Subsequently monitor hemoglobin annually, with
testing for iron deficiency anemia when there are concerns (e.g., with a
ferritin and CRP, or other iron indices). Routine monitoring for leukemia is
not advised despite the increased lifetime risk as it is still very rare and
presents symptomatically. If the infant had myeloproliferative disorder,
monitor the complete blood count for several years after resolution.
[Bull: 2011]
In the newborn period, significant vomiting or failure to pass meconium
warrant immediate evaluation. The infant with significant chronic
constipation should be evaluated for Hirschsprung's disease; the
incidence is 25-fold higher in DS, and there is high mortality
associated with enterocolitis, particularly in those patients with
cardiac malformations. [Ieiri: 2009]
The prevalence of celiac disease in individuals with Down syndrome is
about 4-10% among US Caucasians (compared to 1:150-300 in the
general population). About 1/3 of individuals with Down syndrome and
celiac disease have no overt clinical symptoms. [Pavlovic: 2017] Treatment includes life-long
dietary exclusion of wheat, rye, barley, and possibly oats;
identification and treatment of complications (e.g., anemia,
malnutrition); and possibly evaluation of family members. See the
Medical Home Portal's Celiac Disease for management
details.
Functional gastrointestinal disorders such as esophageal dysmotility and chronic constipation can be a problem in children
with Down syndrome and can lead to pain and decreased appetite as well as behavioral problems. [Moore: 2008] See Constipation and Gastroesophageal Reflux Disease for more detailed management information.
May assist in the evaluation/management of vomiting, constipation, GERD, dysphagia, poor oral intake, chronic diarrhea, or
suspected celiac disease.
Neurology
See Comorbid Conditions section on neurologic conditions (microcephaly,
seizures, myelopathy). In addition, special consideration should be given to
the following two presentations:
New onset of weakness has a broad differential
diagnosis, is likely serious, and deserves prompt evaluation.
[Worley: 2004] Urgent neurology
consultation is indicated for new onset of focal weakness. Due to
atlanto-axial instability, clinicians need to remain vigilant for
signs of spinal cord injury and myelopathy and teach families what
to watch for set focal weakness. All families should be educated on
the signs and symptoms of myelopathy (change in gait or use of arms
or hands, change in bowel or bladder function, neck pain, stiff
neck, head tilt, torticollis, how the child positions his or her
head, change in general function, or weakness), how to avoid
high-risk activities like trampoline, football, soccer, specific
gymnastics, and head first diving, and to seek care if
signs/symptoms emerge. valuation should proceed with c-spine x-rays
(neutral position followed by flexion/extension only if no
abnormality is seen), neuroimaging, and consultation with
neurosurgeon or orthopedic surgeon with expertise in this area.
Families should also know about positioning precautions during
anesthesia/sedation, surgical procedures, and radiographic
examinations.
Regression in function: : Alzheimer-type dementia
is not seen in pediatric or young adult patients with DS. However, a
small number of teens will present with sudden decline in function.
The patients should have a complete evaluation to exclude the issues
listed below. Although rare, autoimmune encephalitis has been
reported in teens with DS and sudden loss of cognitive function and
should also be excluded if clinically suspected based on
presentation. A few patients will have no explanation and be
diagnosis with DS Disintegration Disorder and, in case series, only
a subset have regained prior functional level. [Worley: 2015]
Hearing problems
Visual deficits
Thyroid disorders
Sleep problems (e.g., sleep apnea can
contribute to impaired attention)
Impaired expressive communication
Education or occupational setting not
appropriate for cognitive level or learning style
Emotional problems (e.g., depression,
anxiety)
Auditory processing disorders
Boredom due to lack of recreation or social
outlets
Behavioral supports and parent training
remain the best management for behavioral challenges. However, carefully
target use of psychotropic medication can be beneficial. Little research has
been published to guide use medications for ADHD, depression, anxiety, and
cognitive function in children with DS. In general, individuals with
neurodevelopmental disabilities may have idiosyncratic reactions to
psychotropic medications. A patient may show a positive response at a
relatively low dose or may experience significant adverse effects at a
minimal dose. Initiating treatment at a low dose (e.g., half of the starting
dose for a neurotypical child) and gradual upward titration may help
identify the appropriate dose for a patient while minimizing the potential
for adverse effects. Recognize the lack of evidence upon which to base
treatment, cautiously define for the family the goals of the medication to
be observed (e.g., focus in the case of ADHD), be cautiously watch for side
effects. Families need to understand the specific goal of the medication
(i.e., the treatment target) as opposed to expecting a broad impact on their
child’s behavior.
The most commonly prescribed types
of psychoactive medication for children with DS in the United States include
stimulants, selective serotonin reuptake inhibitors, atypical
antipsychotics, and alpha-adrenergic agonists. [Downes: 2015] A 2016 study of guanfacine used to treat symptoms of
ADHD in children with Down syndrome showed a positive impact on irritability
and hyperactivity, and the medication was generally well-tolerated.
[Capone: 2016]
There has been limited study regarding interventions
for autism spectrum disorders in DS. A small trial of risperidone in
children with DS, autism, severe intellectual disability, and disruptive
behaviors and self- injury demonstrated the potential for benefit but
cautioned that side-effects (weight gain, metabolic alterations) might limit
long-term utility. [Capone: 2008] See
Autism Spectrum Disorder, Treatment & Management for a discussion of behavioral and
educational interventions and medications used in the approach to autism.
A 2017 review of pharmaceutical trials aimed at
treating cognitive and adaptive function impairments in individuals with DS
revealed many more questions than answer; current definitive guidance is
lacking. [Keeling: 2017]
This category includes all types of counselors/counseling for children.
Once on the page, the search can be narrowed by city or using
the Search within this Category field.
Often includes developmental pediatricians, neurologists, psychologists, speech and language pathologists, and occupational
therapists; can document current functional abilities and make recommendations for intervention programming.
Can provide support in ensuring optimal health monitoring, identification of co-morbid conditions, assessing developmental
progress and assuring optimal intervention services, and management of behavioral concerns.
Ears/Hearing
By adulthood, 60-80% of individuals with DS have hearing loss due to sensorineural, conductive, or combined causes. During
early development, even minor hearing loss can negatively impact the development of hearing, speech, and intellect. Auditory
processing deficits may exist in some children although often hard to diagnose. See Ears/Hearing section above under Co-morbid
Conditions in Down Syndrome , Initial Diagnosis above, for details of hearing monitoring.
If a child is identified as having an auditory/hearing impairment, consider:
Full evaluation and monitoring by an audiologist for diagnosis, to determine benefit from amplification (e.g., hearing aid,
FM trainer) and family support
If diagnosed in the newborn period, consider sending testing for CMV (in some states this may be mandated by law)
All children should be evaluated by an otolaryngologist. If the hearing
loss is conductive, ventilation tubes may be
indicated.
Evaluation by a speech and language therapist for program planning and family support
Notification of the child's teacher so that the child’s IEP can be adapted to provide appropriate classroom modifications.
The public schools hearing support services should be consulted to advise on classroom modifications such as:
Limiting background noise in teaching environments
Optimal positioning of the child in the classroom
Ensuring the child can always see the speaker's face
Slowing the pace of verbally presented material
Checking in with the child to verify understanding
Increased use of visual materials in the classroom
Total or alternate communication programming
An intervener or aid indicated
Local programs for the hearing impaired should be contacted to advise the child's school, teacher, and family
Vision should be evaluated to ensure there is no additional sensory deficit
Once a hearing impairment is identified, continued monitoring of hearing and vision are indicated to identify any changes
over time. See the Hearing Loss & Deafness for more information.
Can provide hearing screening, monitor hearing status, evaluate for and adjust amplification, and help families identify intervention
services and adaptations.
Consider referral for recurrent otitis media and/or conductive hearing
loss, or if unable to visualize the eardrum or monitor for effusion.
May also be indicated for obstructive sleep apnea or recurrent sinus
infection.
May offer specialized classroom settings or consultation with a classroom
teacher regarding modifications to aid the child with auditory
impairment. May also offer infant and parent education
programs.
Eyes/Vision
Individuals with DS are at risk for a number of ocular abnormalities as outlined in the DS, Clinical Assessment Comorbid Conditions
section. Monitoring vision is key to prevent secondary, preventable/treatable disability. Referral to pediatric ophthalmology
is recommended by 6 months of age (sooner if eye examination is abnormal). Management of visual impairment may be complicated
by the child's ability to tolerate glasses, patching, or other intervention.
May offer specialized classroom settings or consultation with a classroom
teacher regarding modifications to aid the child with visual
impairment. May also offer infant and parent education
programs.
Dental
Children and young adults with DS are at risk for multiple oral and dental disorders, as outlined in the Down Syndrome , Initial Diagnosis, Comorbid Condition section.
To assist in the prevention and early detection of dental disorders and associated complications, the primary care provider
should:
Encourage routine dental care. Families may need support in identifying
a provider and/or advocating for funding. Dental check-ups are
recommended by age 1 year and then every 6 months. If indicated,
facilitate care by offering the dental care provider relevant
information about DS. See Dental and Oral Health Screening for more information
about how to assess and prevent dental problems in the primary care
setting.
Provide fluoride varnish at well checks as recommended by the Bright
Futures Guidelines and ensure adequate home water fluoridation or
prescribe supplementation.
Manage children will resist brushing due to sensory issues. Children with feeding behaviors that result in grazing, frequent
bottle sipping, or night time oral intake are at increased risk and ideally these behaviors should be addressed. Many children
are on thickened water. Unfortunately, thickened water results in frequent carbohydrate exposure to the teeth and can result
in severe caries. If improvement in dysphagia allows, discontinuation of thickened water should occur as soon as possible.
Ensure that families and dental care providers are aware of medical issues that may affect care (e.g., need for bacterial
prophylaxis, sedation risks).
Monitor general oral hygiene and dental health and discuss issues with families as they arise. If signs of periodontal disease
are evident, refer as soon as possible.
Help the child/teen/family manage halitosis, which may significantly
affect social inclusion. Simple interventions, such as tongue
brushing, mouthwashes, breath fresheners, and better dental hygiene
may help. Medical issues that can cause halitosis include chronic
sinusitis, gastro-esophageal reflux, drooling, and periodontal
disease.
It is important that a dentist has previously worked with children with special health care needs and is equipped to provide
safe sedation for procedures as necessary.
May be more comfortable with children with developmental delays. Referral to special centers may be necessary if a child requires
sedation for dental treatment, particularly if the child's medical status places them at increased risk for complications
of sedation.
Patients with missing/malformed teeth, dental crowding, malalignment, or malocclusion should be referred to an orthodontist
familiar with treating these issues in patients with DS.
Funding is often a barrier to optimal dental care. Some programs offer assistance with dental funding.
Endocrine/Metabolism
Thyroid disorders, particularly congenital, autoimmune, and subclinical
hypothyroidism occur with increased frequency in DS. Management of
hypothyroidism does not differ from that in individuals without DS; however,
there is considerable disagreement regarding treatment of subclinical
hypothyroidism (when the TSH is elevated but free T4 is normal). Some
endocrinologists favor “preventative” (early use of thyroxine
supplementation); however, this practice is not part of the AAP guidelines.
Because of this lack of consensus, the AAP recommends consultation with a
Pediatric Endocrinologist. However, since sometimes this is transient, in
the otherwise healthy thriving child with a mild election of TSH (e.g.,
<12) and normal free t4, repeating the labs in 6-8 weeks before referring
may reduce excessive referrals. Growth is discussed above under
Nutrition/Growth/Bone.
May be helpful in diagnosis and management of thyroid dysfunction or other hormonal disorders.
Immunology/Infectious Disease
Individuals with DS are at risk for autoimmune disorders as outlined under
Down Syndrome , Initial Diagnosis,
Comorbid Conditions. Management of autoimmune disorders does not differ from
that in individuals without DS. The DS screening guidelines only address
routine screening for thyroid disorders and celiac disease. Clinicians need
to stay attuned to signs and symptoms that might suggest the development of
other autoimmune conditions (e.g., Addison's, type I DM).
Can evaluate children with arthritic symptoms and diagnose and treat conditions such as juvenile idiopathic arthritis and
lupus.
Musculoskeletal
Individuals with DS are at risk for primary anatomic skeletal differences as well as complications of hypotonia, ligament
laxity, and increased joint flexibility. See Down Syndrome , Initial Diagnosis, Comorbid Conditions section for details. Regular exercise and weight control should be emphasized to reduce the risk of
degenerative musculoskeletal disease. [Mik: 2008] Some authors suggest yearly monitoring by an orthopedic surgeon for prompt identification and management of musculoskeletal
disorders that may limit function. [Caird: 2006]
Can monitor the musculoskeletal exam of children at risk, evaluate and optimize gait, and provide management options for identified
musculoskeletal problems.
Referral may be indicated if cervico-spinal instability is identified on screening X-rays or by symptoms.
Skin & Appearance
Individuals with DS are at risk for a number of dermatologic conditions. See the Down Syndrome , Initial Diagnosis Comorbid Conditions section for details of these conditions.
Patients with alopecia areata and/or vitiligo should be evaluated for other autoimmune conditions, including thyroid disorders
and celiac disease. Therapies may be helpful (e.g., topical and intralesional steroids), though individual response varies
and there is a high rate of spontaneous remission and relapse. Psychosocial support, coping mechanisms, and peer education
may be important.
Angular cheilosis may be treated with a mild steroid cream unless fungal or bacterial super-infection is suspected.
Syringomas may be removed with laser treatments if indicated.
A dermatologic consult should be considered if atopic dermatitis, dry
skin or xerosis is resistant to treatment (which is often the case).
· Thickened skin on palms and soles is common and benign.
Helpful for chronic, severe, or recurrent skin infections such as folliculitis, angular chelosis, and Norwegian scabies.
Genito-Urinary
Individuals with DS are at risk for multiple renal and collecting system abnormalities as outlined in the Down Syndrome , Initial Diagnosis, Comorbid Conditions section. Treatment of urologic conditions is based upon the malformation present and should be guided
by a pediatric urologist.
Helpful for patients with urinary tract abnormalities or those with persistent unexplained urinary symptoms.
Maturation/Sexual/Reproductive
The clinician can provide families and children/adolescents with DS with information about these issues as well as model how
to talk about these issues in understandable, accurate ways. Issues of sexuality in DS include:
Body parts and pubertal maturation
Personal care and hygiene
Menstrual management
Masturbation
Personal space, privacy, and social norms
The risks of sexual abuse
Dating and marriage
Reproduction and fertility including family planning and pregnancy outcomes
Sexually transmitted diseases
Individuals with DS as parents
The clinician should encourage the family to have open and clear discussions with their child or adolescent so he or she can
learn about what is happening during puberty and understand the family’s values. The AAP’s 2006 clinical report on Sexuality
of Children and Adolescents with Developmental Disabilities is an excellent resource. [Murphy: 2006] Also see Patient Education under Down Syndrome , Services & Other Resources for more resources for clinicians and families.
A gynecologist with expertise in pediatric/adolescent issues can provide family planning guidance and, when indicated/desired,
menstrual suppression management.
Development/Motor
Gross Motor Impairments Most children with DS have delayed gross motor development
secondary to hypotonia, ligamentous laxity, decreased muscle strength, motor
planning challenges. Physical therapy is important for young children with
DS to teach correct strengthening exercises and to prevent the child from
using compensatory motor patterns that will be detrimental in the long run.
Common issues in children who do not receive adequate physical therapy include:
Standing and walking with their hips in external
rotation, knees stiff, and feet flat and turned out
Sitting with their trunk rounded and pelvis tilted
back
Standing with a lordosis
Before age 3, physical therapy is usually available
through an Early Intervention Program, which will focus on teaching parents
to work with the child in the home. An additional benefit will be the
ongoing education about their child's abilities and how best to work with
him or her. For older children, a physical therapist may design an exercise
program to prevent deconditioning and/or obesity. At school, physical
therapy may design adapted physical education programs.
Fine Motor Impairments Fine motor impairments are common and are usually treated by
working through early intervention in infancy and early childhood, then with
an occupational therapist to improve skills and develop adaptive techniques.
Sensory Integration Concerns Many children with DS are sensitive to touch, manipulation,
and textures in and around their mouth and other parts of their body.
Sensory issues may affect oral motor skills, the ability of the parents to
care for the child (e.g., dental and facial hygiene, feeding), and the
willingness/ability of the child to eat a variety of tastes and textures or
to wear certain clothes. Sensory integration issues may be important in
expressive communication since producing communicative responses requires
processing and integrating sensory input. Occupational therapy and/or
feeding therapy are often helpful. Before age three, occupational and
feeding therapy may be available through an early intervention program, and
the focus will be teaching parents to work with the child in the home.
However, not some early intervention programs consider feeding to be
“medical” in nature and will not address these issues in which case the
child will benefit from a private referral. An additional benefit will be
the ongoing education about their child's abilities and how best to work
with him or her. For older children, an occupational therapist will help
with sensory integration issues and fine motor problems. Feeding therapists
are either occupational or speech therapists with additional training in
feeding; they can help with sensory issues around eating and swallowing. At
school, occupational therapy can work with the student on self-help skills
and other means to participate more fully in the academic program.
Oral Motor Impairments Intervention for oral motor impairments may be critical
during early development to facilitate adequate feeding. Subsequent
interventions may be important to facilitate advancement in textures,
improve drooling, and to develop expressive language. A swallow study should
be done early if concerns for aspiration and repeated as skills change over
time or new concerns arise. Feeding therapy may help with tolerating
different foods and textures and safe swallowing.
For children ages 3-21 years PT, OT, and speech-related services are provided to support mobility, fine motor and self-help
skills, and communication for education-related goals, but not necessarily for medical goals (e.g., to enhance range of motion
or improve feeding skills).
Development/Language
All children with DS have language deficits and will benefit from early referral for speech and language therapy. Children
experience delays in both receptive and expressive speech. Often expressive language is substantially more delayed than receptive
language. This is important to recognize as these children will benefit from alternate approaches to communication (e.g.,
sign). Speech disorders such as dysfluency, verbal apraxia, and articulation disorders are common. Up to 30% of children
with DS will have autism however it is important not to assume that a child with DS who is not speaking has autism as there
are many other reasons to have challenges with verbal output (e.g., verbal dyspraxia). Sensory integration issues factor
into expressive communication, since producing communicative responses requires processing and integrating sensory input.
Oral motor skills play a role in language development (see Development/Motor above). Intervention to provide appropriate stimuli
and a bridge to verbal communication (though the use of an alternative communication method) is extremely important. Most
children will require language support throughout their education.
The primary care clinician can help by:
Referring promptly to early intervention service providers
Ensuring appropriate hearing screening throughout childhood
Helping families understand the role of alternative communication methods. While 95% of children with DS will ultimately use
verbal language, language acquisition is universally delayed. Alternative communication methods can help until this occurs
and does not retard verbal language development. As soon as the child is able to produce words with efficiency, the child
will prefer verbal communication.
Screen for signs and symptoms of autism and refer for additional evaluation if concern
Working with the family around behavioral issues that emerge due to limited communication and sensory aversions
Assisting in finding alternative supports when the early intervention or
educational system is unable to meet the child's needs. Funding
through private insurance, Medicaid, or other community programs may
be available. Private referral may be appropriate for less
“educational” goals (e.g., to work on a feeding disorder, drooling
or oral aversion), since school-based services must relate to
educational goals.
May include developmental pediatricians, neurologists, psychologists, speech and language pathologists, and occupational therapists.
Can document current functional abilities and recommend optimal intervention programming.
Can provide hearing screening, monitor hearing status, evaluate for and adjust amplification, and help families identify appropriate
intervention services and adaptations.
Above age 3 years, most children with DS will qualify for services through the special education program offered by their
local school district.
Complementary & Alternative Medicine
Many families of children with special health care needs utilize complementary and alternative medicine. Be sure to inquire
about over-the-counter medications, herbs, nutritional supplements, and homeopathic remedies. Explain risks of using unregulated
substances including various types of unregulated hormones. Identify possible interactions with prescription medications used
by the child. Teaching the family a decision-making process when they are considering use of an alternative treatment will
be helpful for them over the long term as they will face options repeatedly through the child’s life.
Chiropractic adjustments could be fatal if atlanto-axial instability is present. [La: 1990] In the medical literature there do not appear to be evidence-based protocols for chiropractic manipulation of patients with
DS. Caution families who are considering chiropractic manipulation for their child.
The parents are overwhelmed with this child’s behavior, how do I help?
Contrary to some popular beliefs, many children with DS have very challenging
behavior. Delays in development, anxiety, oppositional personalities,
communication deficits, short attention span, limited impulse control, sensory
concerns, and autism can be contributors. Start by trying to understand where
the child functions (Are they 4 years old but functioning like a 2-year-old? Is
this just the "terrible twos?") Ask the parent to describe specific events,
which helps to give an understanding of contributing factors. Sometimes the
child’s therapists or teachers can give insightf. (Can the child settle and
focus during therapy? Are they acting out in the classroom and if so, what are
the triggers?) If it is just the terrible twos in an older child, talk about
that. If the child is primarily oppositional, parent training in behavioral
techniques is helpful. If there are attention and impulse control issues or
anxiety, depending on the severity, environmental supports, parent training for
behavioral approaches, and sometimes medications are used. In some case, the
child should be referred for an evaluation for autism.
Resources for Clinicians
On the Web
Council on Genetics, American Academy of Pediatrics Supports the integration of genetic and genomic medicine in pediatric health care by expanding the genetic literacy of pediatric
teams and supporting the professional needs of geneticists.
Trisomy 21 (OMIM) Extensive review of literature that provides technical information on genetic disorders; Online Mendelian Inheritance in Man
site, hosted by Johns Hopkins University.
Baumer N, Davidson EJ. Supporting a happy, healthy adolescence for young people with Down syndrome and other intellectual disabilities: recommendations
for clinicians. Curr Opin Pediatr.
2014;26(4):428-34.
PubMed abstract
Watts R, Vyas H. An overview of respiratory problems in children with Down's syndrome. Arch Dis Child.
2013;98(10):812-7.
PubMed abstract
Clinical Tools
Clinical Checklists & Visit Tools
Down Syndrome Checklist (2018) ( 132 KB) A checklist for recommended monitoring and screening of children with Down syndrome, adapted from the AAP guidelines by Bull
et al.
Growth/BMI Charts
Down Syndrome Growth Charts (CDC) Growth charts used on over 1500 measurements on 637 individual with DS, published by Zemel, et al. in 2015, from the Centers
for Disease Control and Prevention's site.
Patient Education & Instructions
Children with Down Syndrome: Health Care Information for Families (AAP) Comprehensive guide to help parents and families of children with Down syndrome. Focuses on medical topics, by age, that affect
physical health. Includes links to health care information for families of children with Down syndrome. PDF downloads available;
American Academy of Pediatrics.
Living with Down Syndrome (Down Syndrome Educational Trust) ( 951 KB) A 26-page, printable booklet with information about family, school, social, and medical issues particular to those with Down
syndrome. It has a positive focus and includes personal stories and helpful advice for parents and families.
Down Syndrome (Genetics Home Reference) Excellent, detailed review of condition for patients and families; sponsored by the U.S. National Library of Medicine.
Down Syndrome - Health Issues Site developed and edited/authored by a pediatrician, Len Leshin, MD, who has a son with Down syndrome. Includes a number
of essays by experts about specific health topics and provides other useful links.
Sexuality and People with Disabilities ( 257 KB) This Medical Home newsletter provides information for primary care providers and families including Sexuality and People with
Disabilities; American Academy of Pediatrics recommendations for education about sexuality; tips for parents; and resources,
books, and websites for parents and providers.
Dental Care for the Patient with Down Syndrome Topics covered: Medical problems associated with Down syndrome that can affect dental treatment; proper home care and prevention
of dental disease; techniques to help children with Down syndrome become cooperative dental patients; choosing the right dentist;
and how to communicate effectively with the dental staff. by Dr. Elizabeth S. Pilcher, 1997, but still relevant.
National & Local Support
National Down Syndrome Congress The NDSC, a membership organization, offers parent resources, including a "new parent package" of information, resources for
adult siblings caring for a loved one, and information for people with Down syndrome themselves.
DS-Connect: The Down Syndrome Registry (NIH) This site offers patients and families opportunities to connect with researchers and health care providers, and access research
data. Patients and families can take confidential health-related surveys and express interest in participating in clinical
studies on Down syndrome. Developed by the Down Syndrome Consortium, led by the National Institutes of Health and involving
several Down syndrome advocacy and professional organizations.
* number of provider listings may vary by how states categorize services, whether providers are listed by organization
or individual, how services are organized in the state, and other factors; Nationwide (NW) providers are generally limited
to web-based services, provider locator services, and organizations that serve children from across the nation.
Authors & Reviewers
Initial publication: July 2013; last update/revision: February 2019
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2016;60(9):874-8.
PubMed abstract
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for Maternal–Fetal Medicine. Practice Bulletin No. 162: Prenatal Diagnostic Testing for Genetic Disorders. Obstet Gynecol.
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PubMed abstract
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2014;9(4):344-50.
PubMed abstract / Full Text
Baumer N, Davidson EJ. Supporting a happy, healthy adolescence for young people with Down syndrome and other intellectual disabilities: recommendations
for clinicians. Curr Opin Pediatr.
2014;26(4):428-34.
PubMed abstract
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PubMed abstract
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PubMed abstract
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PubMed abstract
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PubMed abstract / Full Text An expert consensus panel of the American Academy of Pediatrics (AAP) published these guidelines for the care of children
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PubMed abstract
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Committee on Practice Bulletins—Obstetrics, Committee on Genetics, and the Society for Maternal-Fetal Medicine. Practice Bulletin No. 163: Screening for Fetal Aneuploidy. Obstet Gynecol.
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PubMed abstract of particular relevance perhaps in Utah.
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