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Down syndrome: Routine health care, management of comorbidities, and prognosis

Down syndrome: Routine health care, management of comorbidities, and prognosis
Author:
Kathryn K Ostermaier, MD, FAAP
Section Editor:
Helen V Firth, DM, FRCP, FMedSci
Deputy Editor:
Niloufar Tehrani, MD
Literature review current through: Apr 2025. | This topic last updated: Feb 28, 2025.

INTRODUCTION — 

Down syndrome (DS) is the most common chromosome abnormality among live-born infants. It is the most frequent form of intellectual disability caused by a microscopically demonstrable chromosomal aberration. Management requires an organized approach to the initial and ongoing evaluation, monitoring for associated abnormalities, and prevention of common disorders [1,2].

The management and life expectancy of children with DS are presented here. The epidemiology, clinical features, and diagnosis are discussed separately. (See "Congenital cytogenetic abnormalities", section on 'Trisomy 21 (Down syndrome)' and "Down syndrome: Clinical features and diagnosis".)

General issues related to the management of adults with intellectual disability, and problems related to DS specifically, are discussed in detail separately. (See "Primary care of the adult with intellectual and developmental disabilities".)

OVERVIEW — 

Patients with DS need ongoing evaluation and monitoring for associated abnormalities and prevention of common disorders starting at birth [1,2]. The Committee on Genetics of the American Academy of Pediatrics (AAP) has provided recommendations to assist primary care clinicians in the care of children with DS (table 1) [3]. In addition, patients with DS often need referrals to other specialists for additional diagnosis and management of comorbid or other conditions. Some patients may be followed by specialists in a multidisciplinary DS clinic, where they may have additional health care needs related to DS addressed. The Down Syndrome Medical Interest Group is another resource for clinicians.

The management of specific health conditions, including possible treatments, life expectancy, and counseling for patients and parents/caregivers, is discussed in the sections below.

GROWTH — 

Patients with DS should be monitored for disturbances of growth associated with other disorders, such as hypothyroidism or celiac disease, and for excessive weight gain.

Growth charts — Several DS-specific growth charts have been published based on populations in the United States (US) [4-6], the United Kingdom and Ireland [7], Italy [8], the Netherlands [9], and Sweden [10]. The updated 2015 DS-specific US growth charts are optimal for the assessment of height, weight, and head circumference in children with DS [6]. These charts should be used instead of the older DS-specific growth charts provided by the Centers for Disease Control (CDC) and World Health Organization (WHO) [4,5]. The 2015 charts are consistent with the more contemporary charts based on data from European populations [7,10,11], and will most likely supplant the CDC and WHO charts.

However, the 2015 US charts may not adequately assess body mass index (BMI), particularly for older children (ie, age >10 years). While these charts include weight-for-length and corresponding BMI charts, optimal weight-for-length and BMI levels for individuals with DS are not yet established. In addition, one study including individuals with DS aged 10 to 20 years showed that using the 85th percentile from the CDC BMI growth chart was more sensitive for excess adiposity compared with the same percentile in the new DS-specific BMI chart [12]. The CDC BMI and other age-specific growth charts and the measurement of growth in children without DS are discussed in more detail separately. (See "Measurement of growth in children".)

Obesity prevention — A goal of growth monitoring is the prevention of obesity. Interventions beginning at 24 months of age should include attention to diet and the promotion of physical activity. Caloric intake should be less than the age-specific recommendations for unaffected individuals [13]. Calcium and vitamin D intake should be monitored closely to minimize bone loss since adults with DS have lower bone mineral density than controls [14,15]. (See "Prevention and management of childhood obesity in the primary care setting".)

CARDIOVASCULAR DISEASE — 

All newborns with DS should be evaluated for congenital heart disease in consultation with a pediatric cardiologist. An echocardiogram is warranted to detect abnormalities that may not be symptomatic or apparent on physical examination. Continued clinical cardiac evaluation is needed because of the high risk of mitral valve prolapse and aortic regurgitation in adolescents and young adults [1]. In a large, retrospective cohort study of congenital heart surgery, patients with DS had similar mortality, but higher morbidity, compared with patients without DS [16]. (See "Evaluation of suspected critical congenital heart disease (CHD) in the newborn" and "Suspected heart disease in infants and children: Criteria for referral".)

HEARING DISORDERS — 

Newborns should have a newborn hearing screening with brainstem auditory evoked response or otoacoustic emission [3]. Audiology evaluation should be repeated at six months of age and every six months until normal hearing is established bilaterally, then annually. Any child who fails screening should be referred to an otolaryngologist for further evaluation and management. (See "Screening the newborn for hearing loss" and "Hearing loss in children: Screening and evaluation".)

Children with DS should be evaluated and treated for otitis media with audiology re-evaluation after it has resolved; otitis media occurs commonly in these children and can result in hearing loss [3]. (See "Down syndrome: Clinical features and diagnosis", section on 'Hearing loss' and "Acute otitis media in children: Treatment".)

OPHTHALMOLOGIC DISORDERS — 

An ophthalmologic assessment should be performed in the newborn period or at least before six months of age to detect strabismus, nystagmus, and cataracts. The risk of refractive errors is approximately 50 percent between three and five years of age [3]. Affected children should have annual assessments of vision. Unaffected children should be examined annually before age five years to detect refractive errors that may occur during childhood and every two years after age five (every three years after age 13) to screen for disorders, including keratoconus and lens opacities, which may develop in adolescents or adults. The examination should be performed by a pediatric ophthalmologist or ophthalmologist with expertise in infants with disabilities. (See "Vision screening and assessment in infants and children" and "Evaluation and management of strabismus in children" and "Cataract in children".)

ENDOCRINE DISORDERS — 

Patients with DS should receive evaluation and ongoing monitoring for thyroid, reproductive, and other endocrine disorders.

Thyroid disease — Thyroid function testing (both total thyroxine [tT4] and thyroid-stimulating hormone) should be obtained in the newborn period to evaluate for hypothyroidism [17]. The American Academy of Pediatrics (AAP) recommends that screening should be repeated at 6 and 12 months and then annually [3]. However, there is debate regarding the optimal frequency of laboratory screening [18-21]. Height and weight should be measured yearly since the combination of deceleration of linear growth associated with weight gain is a sensitive indicator of hypothyroidism [20]. (See "Clinical features and detection of congenital hypothyroidism".)

Diabetes — Children with DS are at increased risk for type 1 diabetes and should be monitored clinically for disease symptoms (see "Down syndrome: Clinical features and diagnosis", section on 'Diabetes'). The presentation, evaluation, and management of type 1 diabetes are similar to that of other patients and are discussed in more detail separately. (See "Epidemiology, presentation, and diagnosis of type 1 diabetes mellitus in children and adolescents" and "Overview of the management of type 1 diabetes mellitus in children and adolescents".)

Reproductive problems — Counseling should be provided for the management of menstruation and contraception [22]. The onset and completion of puberty in individuals with DS occur at typical ages. Although fertility is impaired [23], published data suggest that 15 to 30 percent of female individuals with DS are capable of becoming pregnant, and their risk of having a child with DS is approximately 50 percent [24]. Offspring without trisomy 21 seem to have an increased risk for other congenital and developmental abnormalities. Limited research also suggests that female individuals with DS may have an increased risk for miscarriages, preterm births, and complications during labor [25]. In addition, although male individuals with DS are generally thought to be infertile, there have been various published case reports of male individuals with DS fathering children [26-28].

Individuals with various disabilities are at an increased risk for sexual abuse. It is important for parents/caregivers to discuss matters of sexuality, social skills training, and measures to prevent pregnancy routinely with older children and adults with DS.

Primary hypogonadism in male individuals and prenatal screening for DS are discussed in more detail elsewhere. (See "Causes of primary hypogonadism in males" and "Down syndrome: Overview of prenatal screening".)

CELIAC DISEASE — 

Screening for symptoms of celiac disease should begin at one year of age [3]. Laboratory screening is recommended if signs or symptoms develop. (See "Diagnosis of celiac disease in children".)

HEMATOLOGIC DISORDERS — 

At birth, a complete blood count and differential should be obtained to evaluate for myeloproliferative disorders and polycythemia. Infants with transient myeloproliferative disorders should be followed with a complete blood count and differential every three months until three years of age and then every six months until six years of age. This monitoring protocol is modified from that used in the prospective study of transient leukemia in DS conducted by the Pediatric Oncology Group [29]. (See "Down syndrome: Clinical features and diagnosis", section on 'Hematologic disorders' and "Neonatal polycythemia".)

From 1 to 13 years of age, a complete blood count with differential and either a combination of ferritin and C-reactive protein or a combination of serum iron and total iron-binding capacity should be obtained annually to screen for anemia [3]. The anemia is usually due to iron deficiency secondary to the restricted diet that many children with DS develop due to delayed oral motor skills and dysphagia. However, anemia may also be a sign of leukemia. Children with DS are at increased risk for leukemia. Thus, there should be vigilance for signs of leukemia, such as anemia, increased infections, and excessive bruising. (See "Overview of the clinical presentation and diagnosis of acute lymphoblastic leukemia/lymphoma in children".)

In addition, low ferritin has been associated with restless sleep. Iron supplementation should be considered for children with DS who have a ferritin level <50 mcg/L and sleep concerns [3]. (See "Iron deficiency in infants and children <12 years: Treatment" and "Iron requirements and iron deficiency in adolescents".)

In a study using United States death certificates from 1983 to 1997, deaths from malignancies other than leukemia were much less frequent in those with than without DS (standardized mortality odds ratio 0.07) [30]. Possible mechanisms suggested for the low rate of cancer include tumor suppressor genes on chromosome 21, a slower rate of replication or higher rate of apoptosis in DS cells, or less exposure to environmental risks.

DERMATOLOGIC DISORDERS — 

Most children and adolescents with DS have associated skin disorders such as folliculitis, hidradenitis suppurativa, seborrheic dermatitis, and alopecia areata. (See "Down syndrome: Clinical features and diagnosis", section on 'Dermatologic disorders'.)

Management of these conditions is similar to that for other patients and is discussed separately.

(See "Infectious folliculitis".)

(See "Hidradenitis suppurativa: Management".)

(See "Seborrheic dermatitis in adolescents and adults".)

(See "Alopecia areata: Management".)

PERIODONTAL DISEASE — 

Periodontal disease is common in children and adults with DS and involves inflammation, periods of acute infection, and pain [31]. The increased frequency is thought to be due in part to alterations in mouth flora, with a higher frequency of Actinobacillus actinomycetemcomitans compared with controls [32]. Overlapping teeth, poor oral hygiene, and immunodeficiency may also play a role [33]. (See "Gingivitis and periodontitis in children and adolescents", section on 'Periodontitis' and "Periodontal disease in children: Associated systemic conditions", section on 'Down syndrome'.)

Routine brushing should be encouraged. Dental visits are recommended every six months. Orthodontic problems, which occur in the majority of DS patients, should be evaluated and treated, if possible. However, the cooperation necessary for many orthodontic procedures may make them impractical in this population.

ATLANTOAXIAL INSTABILITY — 

The American Academy of Pediatrics (AAP) Committee on Genetics and the AAP Committee on Sports Medicine and Fitness recommends careful neurologic evaluation for signs and symptoms consistent with spinal cord injury (eg, loss of motor skills, loss of bowel or bladder control, neck pain, neck stiffness) as the most important clinical predictor of symptomatic atlantoaxial instability (AAI) and dislocation [3,34]. The evaluating clinician should take a careful history and perform a thorough physical examination, looking for evidence of neurologic involvement. This clinical screening process should be done at least annually. Caution regarding contact sports and trampoline use should be discussed with parents/caregivers. (See "Down syndrome: Clinical features and diagnosis", section on 'Atlantoaxial instability' and "Sports participation in children and adolescents: The preparticipation physical evaluation", section on 'Musculoskeletal examination'.)

The AAP Committee on Genetics recommends obtaining lateral plain cervical spine radiographs in the neutral position with odontoid and anteroposterior views to examine for evidence of AAI or subluxation in patients with myelopathic signs or symptoms [3]. Radiologic screening is also suggested in children with DS prior to procedures that require extremes of head position during induction of anesthesia or surgery [35]. Of note, children do not have adequate vertebral mineralization and epiphyseal development for accurate radiographic evaluation of the cervical spine until at least three years of age.

If significant radiographic abnormalities are noted, the patient should be placed in a collar and referred immediately to a pediatric neurosurgeon or pediatric orthopedic surgeon. Flexion and extension radiographs may be performed prior to referral if no significant radiographic abnormalities are present. The AAP Committee on Sports Medicine and Fitness recommends that symptomatic children have magnetic resonance imaging (MRI) to clarify the extent of spinal cord compression and that appropriate surgical consultation be obtained to evaluate the need for definitive treatment [34].

Nearly all people with AAI who have suffered a catastrophic injury to the spinal cord have had preceding neurologic symptoms [34]. Asymptomatic AAI is more common than symptomatic AAI in patients with DS, occurring in 14 versus 3 percent, respectively, in one study [36]. Despite this, the Special Olympics requires screening neck radiographs in children with DS before participation. Children who are found to have AAI on these radiographs but who lack neurologic symptoms should be followed closely with repeat neurologic examinations (at least annually) [34].

SLEEP APNEA — 

Children with DS have an increased risk of obstructive sleep apnea (OSA) because of soft tissue and skeletal alterations that lead to upper-airway obstruction (see "Down syndrome: Clinical features and diagnosis", section on 'Sleep apnea'). Symptoms related to sleep apnea (snoring, restless sleep, and sleep position) should be discussed at health supervision visits beginning at one year of age and continuing throughout childhood [3]. Polysomnography or pulse oximetry monitoring during sleep is recommended in all children with DS by four years of age [3]. A predictive model using questions from a validated sleep questionnaire, medication history, patient age, anthropometric measurements, vital signs, and physical examination findings had a negative predictive value of 73 percent for mild OSA and 90 percent for moderate-to-severe OSA [37]. If confirmed in validation studies, this tool could be used to determine which patients may not need a diagnostic sleep study. (See "Mechanisms and predisposing factors for sleep-related breathing disorders in children" and "Evaluation of suspected obstructive sleep apnea in children".)

Management of OSA in DS is similar as for other patients. Adenotonsillectomy is the treatment of choice but is effective in only up to one-third of children with DS. Many patients require continuous positive airway pressure support after adenotonsillectomy, but it is often poorly tolerated. The approach to the management of OSA, including these and adjuvant treatment methods such as upper-airway hypoglossal nerve stimulation, is discussed elsewhere. (See "Management of obstructive sleep apnea in children" and "Adenotonsillectomy for obstructive sleep apnea in children", section on 'Hypoglossal nerve stimulation'.)

NEUROPSYCHIATRIC DISORDERS

Neurodevelopmental and behavioral problems — Children with DS often have cognitive and other comorbid neurodevelopmental, behavioral, and psychiatric disorders [3,38]. Assessment and treatment of these conditions should be expeditious and should include evaluation of the problem at home and at school, behavior management techniques, and medication as needed. The approach to developmental and behavioral evaluation is similar to that for any child and should be based on the child's expected intellectual and developmental abilities. Referrals to early intervention programs (eg, speech, fine motor, or gross motor therapy) should be initiated prior to three years of age (typically prior to discharge from the newborn nursery). In the United States, after three years of age, evaluation for special education services can be initiated through the public school system. (See "Down syndrome: Clinical features and diagnosis", section on 'Neuropsychiatric disorders' and "Developmental-behavioral surveillance and screening in primary care" and "Intellectual disability (ID) in children: Evaluation for a cause".)

The management of comorbid neurodevelopmental, behavioral, and psychiatric disorders (eg, intellectual disability, autism spectrum disorder, depression) is also similar to children and adults who are affected by such conditions and is discussed in more detail separately.

(See "Intellectual disability (ID) in children: Management, outcomes, and prevention".)

(See "Autism spectrum disorder in children and adolescents: Overview of management and prognosis".)

(See "Overview of prevention and treatment for pediatric depression".)

(See "Primary care of the adult with intellectual and developmental disabilities".)

Alzheimer disease — Dementia that resembles Alzheimer disease (AD) is more common and occurs at an earlier age in patients with DS. DS is now considered a genetically determined form of AD because the amyloid precursor protein (APP) gene is found on chromosome 21. This gene, thought to be involved in the production of brain plaques leading to AD, is overexpressed in DS given the three copies of chromosome 21 [39,40]. Estimated age at onset (53.8 years) and age at death (58.4 years) are similar to that seen in autosomal-dominant AD [41]. A medical evaluation should be performed, including testing for thyroid disease, when the diagnosis of AD is considered. Possible depression should also be excluded.

Patients with DS should be monitored for cognitive decline, particularly after age 40 years. In one series of 632 adults with DS and different levels of intellectual disability (436 asymptomatic, 69 with prodromal AD, and 127 with AD dementia) followed for five years, progression to AD dementia was seen in 17.1 percent of asymptomatic patients and was age dependent (0.6 percent for age <40 years, 21.1 percent for 40 to 44 years, 41.4 for 45 to 49 years, and 57.5 for ≥50 years) [42]. Nearly all patients with prodromal AD progressed to AD dementia. Cognitive decline was most common among those who progressed to symptomatic AD, although no association was seen between longitudinal cognitive decline and baseline intellectual disability.

The progressive cognitive deficits, along with impaired fertility and olfaction, seen in patients DS are similar to findings associated with a postpubertal decrease in hypothalamic and extrahypothalamic (eg, hippocampus, cortex) gonadotropin-releasing hormone (GnRH) expression and loss of GnRH neurons and fibers seen in a mouse model of DS. Measures that restored GnRH expression in the mouse model of DS abolished cognitive and olfactory deficits in adult mice [43]. Similar findings were previously seen in a mouse model of AD [44]. A six-month pilot study of pulsatile GnRH treatment administered via a minipump implanted under the skin in seven adult males with DS found improvements in both cognitive performance and functional brain connectivity but no change in olfaction or reproductive hormone levels except for a decrease in follicle-stimulating hormone [43]. Further study is needed to confirm these findings.

The general approach to diagnosis and treatment of dementia, including in patients with DS, is discussed in detail separately. (See "Down syndrome: Clinical features and diagnosis", section on 'Dementia/Alzheimer disease' and "Evaluation of cognitive impairment and dementia" and "Treatment of Alzheimer disease".)

LIFE EXPECTANCY — 

Life expectancy in DS is shorter than that in the general population or in persons with other causes of intellectual disability. However, survival has improved substantially [30,45-48]. In a retrospective cohort study including 16,506 infants with DS born in the United States between 1983 and 2003, the overall 1-month and 1-, 5-, and 20-year survival probabilities were 98, 93, 91, and 88 percent, respectively [48]. Survival improved modestly over the course of the study in all but the neonatal period. In a Swedish study using national birth and death registries, the median age at death increased from 3.6 years from 1969 to 1973 to 56.8 years from 1999 to 2003 [47].

Predictors of survival in DS may include sex, race, birth weight, gestational age at birth, and the presence of heart defects and other structural anomalies [30,47-52]. In contrast to the greater longevity of female individuals in most populations, male individuals with DS appear to have a survival advantage [51,52]. In a series from Western Australia, life expectancy was 58.6 years for the population and 3.3 years longer for males compared with female individuals [51]. In a study using United States death certificates from 1983 to 1997, the median age at death was higher among White Americans than other races, and improvement in survival was thought to be due to increased placement of infants in homes rather than institutions and to changes in treatment for common causes of death (especially congenital heart disease) [30]. In the Swedish study noted above, the most common main or contributing cause of death was pneumonia and other infections, followed by congenital malformations, circulatory disease, and dementia [47].

INVESTIGATIONAL THERAPIES

Pharmacotherapy – Preliminary basic science research in DS mouse models has suggested that medications such as pentylenetetrazole (PTZ), memantine, and fluoxetine may enhance learning by acting on receptors in the hippocampus, which is related to memory and learning [53-55]. The overexpression of many genes found on chromosome 21 contributes to learning deficits. However, further studies and clinical trials are needed to show the efficacy and safety of these medications in children with DS.

Nutritional supplements – Some randomized and nonrandomized studies have suggested targeted nutritional intervention and supplementation with antioxidant nutrients (eg, zinc, selenium, megavitamins and minerals, vitamin A, vitamin B6, 5-hydroxytryptamine, coenzyme Q10) as potential therapies for DS [56-58]. Oxidative stress due to the overactivation of superoxide dismutase-1 (an enzyme encoded by a gene on chromosome 21) may contribute to features of DS such as decreased immune function, premature aging, and malignancy [56,59,60]. However, we suggest not using these interventions. These studies have methodologic flaws, and there is no convincing evidence that nutritional supplementation improves outcomes in individuals with DS [58,61]. In a randomized trial of 156 infants with DS, no significant differences were found in psychomotor and language development among children who received daily oral supplementation with either antioxidants (selenium, zinc, vitamin A, vitamin E, vitamin C), leucovorin (folinic acid), antioxidants and leucovorin combined, or placebo for 18 months [58].

COUNSELING AND RESOURCES FOR CAREGIVERS

General counseling — Counseling begins when a prenatal diagnosis of DS is made or suspected [3]. The discussion should include the wide range of variability in presentations, prognosis, medical treatments, and educational interventions. Clinicians should also provide counseling and resources for early intervention programs, informative publications [62], and parent/caregiver support or advocacy groups. (See 'Neuropsychiatric disorders' above and 'Resources' below.)

Transition to adulthood — Discussion and planning for transition to adulthood should begin in the early teen years and include employment/volunteer work [63], place of residence, driving, and leisure activities.

Additional details regarding transition planning and resources for children and youth with special health care needs and their families are discussed elsewhere. (See "Children and youth with special health care needs", section on 'Transition planning' and "Intellectual disability (ID) in children: Management, outcomes, and prevention", section on 'Transition planning'.)

Resources — Internet resources for parents/caregivers and patients include the following:

The Association for Children with Down Syndrome

National Down Syndrome Society

A brochure entitled, "A promising future together: A guide for new and expectant parents," available in English and Spanish, can be downloaded from the National Down Syndrome Society website.

SOCIETY GUIDELINE LINKS — 

Links to society and government-sponsored guidelines from selected countries and regions around the world are provided separately. (See "Society guideline links: Down syndrome".)

INFORMATION FOR PATIENTS — 

UpToDate offers two types of patient education materials, "The Basics" and "Beyond the Basics." The Basics patient education pieces are written in plain language, at the 5th to 6th grade reading level, and they answer the four or five key questions a patient might have about a given condition. These articles are best for patients who want a general overview and who prefer short, easy-to-read materials. Beyond the Basics patient education pieces are longer, more sophisticated, and more detailed. These articles are written at the 10th to 12th grade reading level and are best for patients who want in-depth information and are comfortable with some medical jargon.

Here are the patient education articles that are relevant to this topic. We encourage you to print or e-mail these topics to your patients. (You can also locate patient education articles on a variety of subjects by searching on "patient info" and the keyword(s) of interest.)

Basics topic (see "Patient education: Down syndrome (The Basics)")

Beyond the Basics topic (see "Patient education: Down syndrome (Beyond the Basics)")

SUMMARY AND RECOMMENDATIONS

General approach – Patients with Down syndrome (DS) require ongoing evaluation and monitoring for associated abnormalities and prevention of common disorders starting at birth. Recommendations for routine screening and evaluation of associated disorders are summarized below.

Specific recommendations – The Committee on Genetics of the American Academy of Pediatrics (AAP) has provided recommendations to assist clinicians in the care of children with DS (table 1):

At birth – Newborns with DS should be evaluated with routine newborn screening, thyroid function testing (ie, total thyroxine [tT4] and thyroid stimulating hormone [TSH]), echocardiogram, and a complete blood count with differential to evaluate for congenital hearing loss, hypothyroidism, cardiovascular disease, polycythemia, and myeloproliferative and other disorders. (See 'Cardiovascular disease' above and 'Thyroid disease' above and 'Hematologic disorders' above.)

Routine newborn screening is discussed in more detail separately. (See "Overview of newborn screening".)

Age <12 months

-Hypothyroidism – Thyroid function testing (ie, tT4 and TSH) should be repeated at 6 and 12 months of age and annually thereafter. (See 'Thyroid disease' above.)

-Hearing loss – Audiology evaluation should be repeated at six months of age and every six months until normal hearing is established, then annually. Any child who fails hearing screening should be referred to an otolaryngologist. Monitoring for otitis media is also warranted as it is a common cause of hearing loss in children with DS. (See 'Hearing disorders' above.)

-Ophthalmologic anomalies – Referral to an ophthalmologist prior to six months of age to evaluate for cataracts, strabismus, and other conditions, with annual evaluation thereafter. (See 'Ophthalmologic disorders' above.)

-Growth – Ongoing monitoring of normal growth and growth disturbances associated with other disorders (eg, hypothyroidism or celiac disease, obesity). Weight, height, and head circumference should be plotted on DS-specific growth charts; body mass index may be more accurately assessed with other age-specific growth charts. (See 'Growth' above.)

Age ≥12 months – In addition to the above, older patients with DS should be evaluated for the following:

-Anemia and myeloproliferative disorders – Hemoglobin level at 12 months of age and annually thereafter, with ongoing monitoring for myeloproliferative disorders. A complete blood count with differential should be repeated if there are signs of leukemia (eg, bone pain, easy bruising, or bleeding). (See 'Hematologic disorders' above.)

-Celiac disease – Monitoring for celiac disease symptoms starting at 12 months of age, with formal screening should signs or symptoms develop. (See "Diagnosis of celiac disease in children".)

-Sleep apnea – Monitoring for symptoms related to sleep apnea at health supervision visits beginning at 12 months of age, with polysomnography or pulse oximetry during sleep by four years of age. (See 'Sleep apnea' above and "Evaluation of suspected obstructive sleep apnea in children".)

-Spinal cord compression – Neurologic evaluation for signs and symptoms consistent with spinal cord injury at each health supervision visit; symptomatic children should be evaluated with MRI to clarify the extent of spinal cord compression. (See 'Atlantoaxial instability' above.)

-Other conditions – This includes dermatologic disorders, periodontal disease, neuropsychiatric, and other endocrine disorders. (See 'Dermatologic disorders' above and 'Periodontal disease' above and 'Neuropsychiatric disorders' above and 'Endocrine disorders' above.)

Life expectancy – Although survival has improved substantially in the past two to three decades, individuals with DS have a shorter life expectancy than the general population or individuals with other causes of intellectual disability. (See 'Life expectancy' above.)

Counseling parents/caregivers – Counseling begins when a prenatal diagnosis of DS is made or suspected. Clinicians should initiate referrals and provide resources to early intervention programs and parent/caregiver support groups. Planning for transition to adulthood should begin in the early teen years. (See 'Counseling and resources for caregivers' above.)

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Topic 2938 Version 49.0

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