FROM THE AMERICAN ACADEMY OF PEDIATRICS
Guidance for the Clinician in Rendering Pediatric Care Clinical Report—Health Supervision for Children With Down Syndrome
Marilyn J. Bull, MD, and the COMMITTEE ON GENETICS ABBREVIATIONS abstract BAER—brainstem auditory evoked response These guidelines are designed to assist the pediatrician in caring for TSH—thyroid-stimulating hormone CRP—C-reactive protein the child in whom a diagnosis of Down syndrome has been confirmed This document is copyrighted and is property of the American by chromosome analysis. Although a pediatrician’s initial contact with Academy of Pediatrics and its Board of Directors. All authors the child is usually during infancy, occasionally the pregnant woman have filed conflict of interest statements with the American who has been given a prenatal diagnosis of Down syndrome will be Academy of Pediatrics. Any conflicts have been resolved through a process approved by the Board of Directors. The American referred for review of the condition and the genetic counseling pro- Academy of Pediatrics has neither solicited nor accepted any vided. Therefore, this report offers guidance for this situation as well. commercial involvement in the development of the content of Pediatrics 2011;128:393–406 this publication. The guidance in this report does not indicate an exclusive INTRODUCTION course of treatment or serve as a standard of medical care. Variations, taking into account individual circumstances, may be Children with Down syndrome have multiple malformations, medical appropriate. conditions, and cognitive impairment because of the presence of extra genetic material from chromosome 21.1,2 Although the phenotype is variable, there typically are multiple features that enable the experi- enced clinician to suspect the diagnosis. Among the more common physical findings are hypotonia, small brachycephalic head, epicanthal folds, flat nasal bridge, upward-slanting palpebral fissures, Brushfield spots, small mouth, small ears, excessive skin at the nape of the neck, single transverse palmar crease, and short fifth finger with clinodac- tyly and wide spacing, often with a deep plantar groove between the first and second toes. The degree of cognitive impairment is variable www.pediatrics.org/cgi/doi/10.1542/peds.2011-1605 and may be mild (IQ of 50–70), moderate (IQ of 35–50), or occasionally doi:10.1542/peds.2011-1605 severe (IQ of 20–35). There is a significant risk of hearing loss (75%); All clinical reports from the American Academy of Pediatrics obstructive sleep apnea (50%–79%); otitis media (50%–70%); eye dis- automatically expire 5 years after publication unless reaffirmed, ease (60%), including cataracts (15%) and severe refractive errors revised, or retired at or before that time. (50%); congenital heart defects (50%); neurologic dysfunction (1%– PEDIATRICS (ISSN Numbers: Print, 0031-4005; Online, 1098-4275). 13%); gastrointestinal atresias (12%); hip dislocation (6%); thyroid Copyright © 2011 by the American Academy of Pediatrics disease (4%–18%)3–6; and, less commonly, transient myeloproliferative disorder (4%–10%) and later leukemia (1%) and Hirschsprung disease (Ͻ1%) (Table 1). The social quotient may be improved with early- intervention techniques, although the level of function is exceedingly variable. Children with Down syndrome often function more effectively in social situations than would be predicted on the basis of cognitive assessment results. In approximately 95% of children with Down syndrome, the condition is sporadic because of nonfamilial trisomy 21, in which there are 47 chromosomes with a free extra chromosome 21 being present. In ap- proximately 3% to 4% of persons with the Down syndrome phenotype, the extra chromosomal material is the result of an unbalanced trans- location between chromosome 21 and another acrocentric chromo- some, usually chromosome 14. Approximately three-quarters of these
PEDIATRICS Volume 128, Number 2, August 2011 393 Downloaded from www.aappublications.org/news by guest on September 24, 2021 TABLE 1 Medical Problems Common in Down syndrome and facilitate their transi- incorporates maternal age risk with Syndrome tion to adulthood. The following outline measurement of maternal serum hCG, Condition % is designed to help the pediatrician unconjugated estriol, ␣-fetoprotein Hearing problems 75 provide care for children with Down (AFP), and inhibin levels. The detection Vision problems 60 Cataracts 15 syndrome and their families in the rate of Down syndrome by first- Refractive errors 50 medical home. It is organized by the trimester screening is 82% to 87%, by Obstructive sleep apnea 50–75 issues that need to be addressed in second-trimester screening is 80%, Otitis media 50–70 Congenital heart disease 40–50 various age groups (see Appendix 1). and by combined first- and second- Hypodontia and delayed dental eruption 23 Several areas require ongoing assess- trimester screening (referred to as in- Gastrointestinal atresias 12 ment throughout childhood and tegrated screening) is approximately Thyroid disease 4–18 95%. These screening tests are re- Seizures 1–13 should be reviewed at every physician Hematologic problems visit and at least annually. These areas ported to have a 5% false-positive Anemia 3 include: rate.9–12 Iron deficiency 10 Transient myeloproliferative disorder 10 ● personal support available to family; Pediatricians may be asked to counsel Leukemia 1 a family whose fetus has been identi- ● participation in a family-centered Celiac disease 5 fied with or is at increased risk of Atlantoaxial instability 1–2 medical home; Down syndrome. In some settings, the Autism 1 ● Hirschsprung disease Ͻ1 age-specific Down syndrome–re- pediatrician may be the primary re- lated medical and developmental source for counseling. At other times, conditions; counseling may have been provided ● financial and medical support pro- for the family by a certified genetic unbalanced translocations are de grams for which the child and fam- counselor, a clinical geneticist, obste- novo, and the remainder result from ily may be eligible; trician, or developmental-behavioral familial translocations. If the child has pediatrician. In addition, parents may a translocation, a balanced transloca- ● injury and abuse prevention with have received information from a tion must be excluded in the parents. special consideration of develop- Down syndrome program, a national When there is a translocation in a par- mental skills; and Down syndrome organization, or an In- ent, additional familial studies and ge- ● nutrition and activity to maintain ap- ternet site. Because the pediatrician netic counseling should be provided. In propriate weight. often has a previous relationship with the remaining 1% to 2% of persons the family, he or she should be pre- with the Down syndrome phenotype, a THE PRENATAL VISIT pared to review this information and mix of 2 cell lines is present: one nor- The American College of Obstetricians assist in the decision-making process. mal and the other with trisomy 21. This and Gynecologists recommends that When asked, the pediatrician should condition is called mosaicism. Persons all pregnant women, regardless of discuss the following topics with the with mosaicism may be more mildly age, be offered the option of diagnostic family: affected than persons with complete testing for Down syndrome and consider 1. The prenatal laboratory studies trisomy 21 or translocation chromo- less invasive screening options.7,8 that lead to the diagnosis and any some 21, but this is not always the Screening options have improved signif- fetal imaging studies that have case, and their condition may include icantly with the introduction of first- been or will be performed. any of the associated medical prob- trimester screening, which incorporates lems and be indistinguishable from tri- maternal age, nuchal translucency ul- 2. The mechanism for occurrence of the somy 21. Recurrence risks for families trasonography, and measurement of disorder in the fetus and the potential with an affected child depend on maternal serum human chorionic go- recurrence rate for the family as pro- many factors, and families benefit nadotropin (-hCG) and pregnancy- vided by genetic counseling. from counseling by a clinical genetic associated plasma protein A (PAPP-A). 3. The prognosis and phenotypic man- professional. Second-trimester screening is available ifestations, including the wide Medical management, home environ- for patients who first seek medical range of variability seen in infants ment, early intervention, education, care in the second trimester or in loca- and children with Down syndrome. and vocational training can signifi- tions where first-trimester screening is Families benefit from hearing a fair cantly affect the level of functioning of not available. The second-trimester and balanced perspective, includ- children and adolescents with Down screening, often called the quad screen, ing the many positive outcomes of
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children with Down syndrome and 3. Offer referral to a clinical geneticist positive FISH-test result should be con- their effect on the family. for a more extended discussion of firmed by a complete chromosome 4. Any additional studies performed clinical outcomes and variability, analysis to identify translocations that that may refine the estimation of recurrence rates, future reproduc- may have implications for further re- the prognosis (eg, fetal echocardio- tive options, and evaluation of the productive counseling for the parents gram, ultrasonographic examina- risks for other family members. and possibly other family members. tion for gastrointestinal tract mal- The mother should be allowed to re- formations). Consultation with an HEALTH SUPERVISION FROM BIRTH cover from the immediate delivery of appropriate medical subspecialist, TO 1 MONTH: NEWBORN INFANTS the infant and have her partner or sup- such as a pediatric cardiologist or a Examination port person present before the diagno- pediatric surgeon, should occur The first step in evaluating a newborn sis is given. The information should be prenatally if abnormal findings are infant for trisomy 21 is a careful review relayed in a private setting by the phy- detected. of the family history and prenatal in- sicians involved, optimally by the pri- 5. Currently available treatments and formation, particularly if prenatal mary care provider for the infant and 13 interventions. This discussion chromosome studies were performed. the delivering physician. It is recom- needs to include the efficacy, poten- Previous children born with trisomy 21 mended that hospitals coordinate the tial complications and adverse ef- or developmental differences or preg- delivery of the information and offer a fects, costs, and other burdens as- nancies that ended in miscarriage may private hospital room pending confir- sociated with treatments. Discuss be significant clues that a family may mation of the diagnosis. early-intervention resources, par- carry a balanced translocation that An important aspect of providing in- ent support programs, and any ap- predisposes them to having children formation about Down syndrome to propriate future treatments. with trisomy 21. For children who have families includes first congratulat- 6. The options available to the family had the diagnosis made prenatally, a ing parents on the birth of their in- for management and rearing of formal copy of the chromosome report fant. Obstetricians and pediatricians the child should be discussed us- should be obtained. This report allows should coordinate their messaging ing a nondirective approach. In the clinician to confirm the diagnosis, and inform parents of their suspicion cases of early prenatal diagnosis, review the results with the family, and immediately, in a private setting and, this may include discussion of add the formal diagnosis to the child’s where appropriate, with both parents pregnancy continuation or termi- medical record. If the results of prena- together. Physicians should use their nation, raising the child in the tal testing are not available, a blood experience and expertise in providing family, foster care placement, and sample should be obtained for postna- support and guidance for families. Cli- adoption. tal cytogenetic analysis to confirm the nicians should ensure a balanced ap- diagnosis and rule out a chromosome proach rather than their personal 7. Availability of genetic counseling translocation. opinions, give current printed materi- or meeting with a genetics als, and offer access to other families professional. A physical examination is the most sen- sitive test in the first 24 hours of life to who have children with Down syn- If the pregnancy is continued: diagnose trisomy 21 in an infant. If the drome and support organizations if lo- 1. Develop a plan for delivery and neo- clinician feels that enough criteria are cally available. It is important that cli- natal care with the obstetrician and present on physical examination, then nicians be cognizant of the realities the family. As the pregnancy pro- a blood sample should be sent for and possibilities for healthy, produc- gresses, additional studies should chromosome evaluation. The clinician tive lives of people with Down syn- be performed if available, if recom- should alert the laboratory and re- drome in society.13 mended by subspecialty consul- quest rapid results. A study that uses Confirm the laboratory diagnosis of tants, and/or if desired by the fam- fluorescent in situ hybridization (FISH) Down syndrome and review the karyo- ily for modifying this management technology should be available within type with the parents when the final plan (eg, detection of a complex 24 to 48 hours to facilitate diagnosis result is available. Discuss the specific heart defect by echocardiography). and parent counseling. A FISH study findings with both parents whenever 2. Offer parent-to-parent contact and can only indicate that an extra copy of possible, and talk about the potential information about local and na- chromosome 21 is present; it cannot clinical manifestations associated tional support organizations. detect translocations. Therefore, a with the syndrome. These topics
PEDIATRICS Volume 128, Number 2, August 2011 395 Downloaded from www.aappublications.org/news by guest on September 24, 2021 should be reviewed again at a subse- ence in managing the child with TMD usually regresses spontaneously quent meeting. Parents should be re- Down syndrome. within the first 3 months of life, but ferred for genetic counseling if it ● Congenital hearing loss, with objec- there is an increased risk of later on- was not conducted prenatally. tive testing, such as brainstem audi- set of leukemia for these patients Newborn care is often provided in a tory evoked response or otoacous- (10%–30%).20 Polycythemia is also hospital setting by a physician who will tic emission, at birth, according to common in infants with Down syn- not be the primary care provider, and the universal newborn hearing drome (18%–64%)21 and may require extreme care is required to be certain screening guidelines. Complete any careful management. Infants with that a smooth transition occurs for the needed follow-up assessment by 3 TMD and polycythemia should be fol- family. months.16,17 lowed according to subspecialty con- sultation recommendations. Parents ● Duodenal atresia or anorectal atre- of infants with TMD should be coun- Discuss and Review sia/stenosis by performing a his- seled regarding the risk of leukemia ● Hypotonia. tory and clinical examination. and made aware of the signs, includ- ● Facial appearance, and acknowl- ● Apnea, bradycardia, or oxygen de- ing easy bruising, petechiae, onset of edge the presence of familial saturation in a car safety seat for lethargy, or change in feeding pat- characteristics. infants who are at increased risk terns. Leukemia is more common in ● Feeding issues. Children with Down because they have had cardiac sur- children with Down syndrome than in syndrome can usually nurse, and gery or are hypotonic. A car safety the general population but still rare seat evaluation should be con- many can breastfeed successfully. (1%). Occasionally, some will need early ducted for these infants before hos- ● Congenital hypothyroidism (1% risk). supplementation until a successful pital discharge.18 Obtain thyroid-stimulating hormone nursing pattern is established. ● Constipation. If constipation is pres- (TSH) concentration if state newborn Some infants will also sleep for pro- ent, evaluate for restricted diet or screening only measures free thyrox- longed periods and need to be limited fluid intake, hypotonia, hypo- ine (T4); congenital hypothyroidism awakened to feed to maintain ade- thyroidism, or gastrointestinal tract can be missed if only the T4 concen- quate calorie intake. malformation, including stenoses tration is obtained in the newborn or Hirschsprung disease, for which screening. Many children with Down Evaluate for there is an increased risk. syndrome have mildly elevated TSH ϳ ● Heart defects ( 50% risk). Perform ● Gastroesophageal reflux, which is and normal free T4 levels. Manage- an echocardiogram, to be read by a usually diagnosed and managed ment of children with abnormal thyro- pediatric cardiologist, regardless of clinically. If severe or contributing tropin or T4 concentrations should be whether a fetal echocardiogram to cardiorespiratory problems or discussed with a pediatric was performed. Refer to a pediatric failure to thrive, refer for subspe- endocrinologist. cardiologist for evaluation any in- cialty intervention. fant whose postnatal echocardio- ● Stridor, wheezing, or noisy breath- Anticipatory Guidance Given at gram results are abnormal. ing. If severe or contributing to car- Least Once Between Birth and 1 ● Feeding problems. Refer all infants diorespiratory problems or feeding Month of Age who have marked hypotonia as well difficulty, refer to pediatric pul- ● Discuss increased susceptibility to as infants with slow feeding, chok- monologist to assess for airway respiratory tract infection. Children ing with feeds, recurrent pneumo- anomalies. Tracheal anomalies and with signs and symptoms of lower nia, or other recurrent or persistent small tracheal size may also make respiratory tract infection should respiratory symptoms and unex- intubation more difficult. be evaluated acutely by a medical plained failure to thrive for a radio- ● Hematologic abnormalities. Obtain a provider, and in the presence of graphic swallowing assessment.14,15 complete blood cell count. Leukemoid cardiac or chronic respiratory ● Cataracts at birth by looking for a reactions, or transient myeloprolifer- disease, aggressive treatment red reflex. Cataracts may prog- ative disorder (TMD). TMD is found al- should be instituted.14 Children ress slowly and, if detected, need most exclusively in newborn infants with comorbid conditions who prompt evaluation and treatment with Down syndrome and is relatively qualify should have respiratory by an ophthalmologist with experi- common in this population (10%).19 syncytial virus prophylaxis.22
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● Discuss with parents the importance suggested.29 Until studies confirm awakening, daytime sleepiness, of cervical spine-positioning precau- this finding and document that apneic pauses, and behavior prob- tions to avoid excessive extension or screening improves outcomes, rou- lems that could be associated with flexion to protect the cervical spine tine renal and urologic screening is poor sleep. Refer to a physician during any anesthetic, surgical, or ra- not recommended. with expertise in pediatric sleep diographic procedure.23,24 disorders for examination and fur- HEALTH SUPERVISION FROM 1 ● Discuss efficacy of early interven- ther evaluation of a possible sleep MONTH TO 1 YEAR: INFANCY tion and availability of early- disorder if any of the above- 32,33 intervention services and therapies Physical Examination and mentioned symptoms occur. in the community. Initiate referral Laboratory Studies ● At each well-child visit, discuss with 25 parents the importance of maintain- as appropriate. Review the risk of serous otitis media ing the cervical spine in a neutral ● Inform the family of the availability of (50%–70%). Review the previous hear- position during any anesthetic, sur- support and advice from parents of ing evaluation (brainstem auditory gical, or radiographic procedure to other children with Down syndrome. evoked response [BAER, ABR] or otoa- minimize the risk of spinal cord in- coustic emission). If the child passed ● Supply names of Down syndrome jury and review the signs and the screening study, rescreen at 6 support groups and current books symptoms of myelopathy. Perform months of age for confirmation. If the and pamphlets (see “Resources for careful history and physical exami- infant failed to pass screening studies, Parents”). nation, and pay attention for myelo- refer to an otolaryngologist who is ● Discuss the strengths of the child pathic signs and symptoms. comfortable with examining infants and positive family experiences. with stenotic external canals to deter- ● Within the first 6 months of life, re- ● Discuss the individual resources for mine if a middle-ear abnormality is fer to a pediatric ophthalmologist support, such as family, clergy, and present. Tympanometry may be neces- or ophthalmologist with expertise friends. sary if the tympanic membrane is and experience with infants with ● Talk about how and what to tell sib- poorly visualized. Middle-ear disease disabilities to evaluate for strabis- 34 lings, other family members, and should be treated promptly. Once a mus, cataracts, and nystagmus. friends. Review methods of coping clear ear is established, a diagnostic Check the infant’s vision at each with long-term disabilities. BAER should be performed to accu- visit and use developmentally ap- rately establish hearing status. In chil- propriate subjective and objective ● Review the recurrence risk in sub- dren with stenotic canals, in which criteria. If lacrimal duct obstruction sequent pregnancies and the avail- the tympanic membranes cannot be is present, refer for evaluation for ability of prenatal diagnosis as pro- seen, refer to an otolaryngologist for surgical repair of drainage system vided in genetic counseling. examination under an office micro- if not resolved by 9 to 12 months of ● Discuss treatments that are consid- scope. Interval ear examinations age.35 ered complementary and alterna- should be performed by the otolaryn- ● Verify results of newborn thyroid- tive. Parents need an opportunity to gologist every 3 to 6 months until the function screen if not previously learn objectively which therapies tympanic membrane can be visual- performed. Because of increased are safe and which are potentially ized by the pediatrician and tympa- risk of acquired thyroid disease, re- dangerous (eg, cell therapy that nometry can be performed reliably. A peat measurement of TSH at 6 and may transmit slow viruses and fat- behavioral audiogram may be at- 12 months of age and then annually. soluble vitamins that can cause tox- tempted at 1 year of age, but many chil- ● Monitor infants with cardiac de- icity). Several articles and Internet dren will not be able to complete the fects, typically ventricular or atrio- sites evaluate the legitimacy of study and may need additional testing ventricular septal defects that 26–28 claims that are made. by BAER.30,31 cause intracardiac left-to-right ● Renal and urinary tract anomalies ● At least once during the first 6 shunts, for symptoms and signs of have been reported to occur at in- months of life, discuss with par- congestive heart failure as pulmo- creased frequency among persons ents symptoms of obstructive nary vascular resistance decreases with Down syndrome, and screen- sleep apnea, including heavy and pulmonary blood flow in- ing for these anomalies for all chil- breathing, snoring, uncommon creases. Tachypnea, feeding diffi- dren with Down syndrome has been sleep positions, frequent night culties, and poor weight gain may
PEDIATRICS Volume 128, Number 2, August 2011 397 Downloaded from www.aappublications.org/news by guest on September 24, 2021 indicate heart failure. Medical man- iron deficiency on the basis of a his- prenatal diagnosis at least once in agement, including nutritional sup- tory of decreased iron intake.38–42 the first year of life and more often if port, may be needed until the infant ● Monitor for signs of neurologic dys- judged necessary by the clinician. can undergo cardiac surgery to re- function that may occur. Children Refer for genetic counseling if not pair the defects. For patients with with Down syndrome have an in- already provided. large ventricular septal defects and creased risk of seizures, including ● Be prepared to discuss and answer without obstruction to pulmonary infantile spasms (1%–13%)43,44 and questions about treatments that are blood flow, repair should be per- other conditions including Moya- considered complementary and alter- formed before 4 months of age to moya disease.45 native at each well-child visit. limit the potential for development ● Administer immunizations, includ- of pulmonary hypertension and as- ing influenza vaccine and other HEALTH SUPERVISION FROM 1 TO 5 sociated complications. Infants and vaccines recommended for all chil- YEARS: EARLY CHILDHOOD children with Down syndrome are dren, unless there are specific ● Obtain a history and perform a also at increased risk of pulmonary contraindications.46 physical examination, and give at- hypertension even in the absence of tention to growth and developmen- intracardiac structural defects. Anticipatory Guidance tal status at every well-child visit. ● Obtain hemoglobin concentration ● Monitor weight and follow weight- ● Review the risk of hearing loss asso- beginning at 1 year of age and annu- for-height trends at each health ciated with serous otitis media. For ally thereafter. Children with Down care visit. Review the infant’s a child who passed diagnostic hear- syndrome have been shown to have growth and plot it by using the stan- ing testing, additional screening or significantly lower dietary intakes dard growth charts of the National behavioral audiogram and tympa- of iron than their typically develop- Center for Health Statistics or the nometry should be performed every ing peers.36 Increased erythrocyte World Health Organization.47 The 6 months until normal hearing lev- mean corpuscular volume (MCV) previously used Down syndrome- els are established bilaterally by has been reported in 45% of pa- specific growth charts no longer re- ear-specific testing (usually after 4 tients with Down syndrome with and flect the current population styles years of age). Subsequently, behav- without heart disease, and when and body proportion. Until new ioral hearing tests should be per- MCV is decreased, it occurs at ap- charts are developed, patterns of formed annually. If normal hearing proximately the same time as ane- growth and weight gain should be is not established by behavioral mia.37 Therefore, MCV is not useful followed on the available standard testing, additional screening by in screening for the diagnoses of growth charts and should include otoacoustic emissions or diagnos- iron deficiency, lead toxicity, or use of weight for height and BMI.48 tic BAER should be performed with thalassemia in children with Down sedation if necessary. Children ● Review availability of Down syn- syndrome. Serum ferritin concen- who demonstrate a hearing loss drome support groups at least once tration is a sensitive parameter for should be referred to an otolaryn- in the first year of life (see “Re- gologist who is comfortable with assessment of iron stores in healthy sources for Parents”). subjects but is an acute-phase reac- the examination of children with ● tant and may be increased in the Assess the emotional status of par- stenotic ear canals. The risk of se- presence of chronic inflammation ents and intrafamilial relationships rous otitis media between 3 and 5 or infection and should be evaluated at each well-child visit. Educate and years of age is approximately 50% support siblings and discuss sibling together with C-reactive protein to 70%. adjustments. (CRP) concentration. An elevated ● Check the child’s vision, and use de- CRP level is an indication that a nor- ● Review connection to early- velopmentally appropriate subjec- mal ferritin level may be falsely ele- intervention services and their rela- tive and objective criteria at each vated and is not a reliable indication tionship to the strengths and needs well-child visit. Refer the child of normal iron status. Serum ferri- of the infant and family at each well- annually to a pediatric ophthalmol- tin and CRP or reticulocyte hemoglo- child visit. ogist or ophthalmologist with spe- bin (CHr) concentrations should be ● Review the family’s understanding cial expertise and experience with obtained at annual visits for pa- of the risk of recurrence of Down children with disabilities. Children tients who are at increased risk of syndrome and the availability of with Down syndrome have a 50%
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risk of refractive errors that lead ipation in some sports, including con- multaneous quantitative IgA. The to amblyopia between 3 and 5 tact sports such as football and soccer quantitative IgA is important, be- years of age. Addressing refrac- and gymnastics (usually at older cause a low IgA level will result in a tive errors and strabismus at an ages), places children at increased false-negative tissue transglutami- early age can help prevent ambly- risk of spinal cord injury65 and that nase IgA result. Refer patients with opia and encourage normal visual trampoline use should be avoided by abnormal laboratory values for development.34,49–51 all children with or without Down syn- specialty assessment. There is no drome younger than 6 years and by evidence showing routine screen- Atlantoaxial Instability older children unless under direct ing of asymptomatic individuals as Discuss with parents, at least bienni- professional supervision.66,67 Special being beneficial. There are neither ally, the importance of cervical spine- Olympics has specific screening re- data nor consensus that would in- positioning precautions for protection quirements for participation in some dicate whether patients with per- of the cervical spine during any anes- sports.68 sistent symptoms who had normal thetic, surgical, or radiographic proce- laboratory values on initial evalu- dure. Perform careful history and The Symptomatic Child ation should have further labora- physical examination with attention to Any child who has significant neck tory tests. myelopathic signs and symptoms at pain, radicular pain, weakness, spas- ● Discuss symptoms of obstructive every well-child visit or when symp- ticity or change in tone, gait difficul- sleep apnea, including heavy toms possibly attributable to spinal ties, hyperreflexia, change in bowel or breathing, snoring, restless sleep, cord impingement are reported. Par- bladder function, or other signs or uncommon sleep positions, fre- ents should also be instructed to con- symptoms of myelopathy must un- quent night awakening, daytime tact their physician for new onset of dergo plain cervical spine radiography sleepiness, apneic pauses, and be- symptoms of change in gait or use of in the neutral position.55,65 If significant havior problems, that could be as- arms or hands, change in bowel or radiographic abnormalities are pres- sociated with poor sleep at each bladder function, neck pain, stiff neck, ent in the neutral position, no further well-child visit. There is poor corre- head tilt, torticollis, how the child posi- radiographs should be taken and the lation between parent report and tions his or her head, change in gen- patient should be referred as quickly polysomnogram results.33,72 There- eral function, or weakness. as possible to a pediatric neurosur- fore, referral to a pediatric sleep laboratory for a sleep study or poly- The Asymptomatic Child geon or pediatric orthopedic surgeon with expertise in evaluating and treat- somnogram for all children with Children with Down syndrome are at ing atlantoaxial instability. If no signif- Down syndrome by 4 years of age is increased risk of atlantoaxial sublux- icant radiographic abnormalities are recommended. Refer to a physician ation. However, the child must be 3 present, flexion and extension radio- with expertise in pediatric sleep any years of age to have adequate verte- graphs may be obtained before the pa- child with signs or symptoms of ob- bral mineralization and epiphyseal de- tient is promptly referred.23,62,63 structive sleep apnea or abnormal velopment for accurate radiographic sleep-study results. Discuss obesity 52 ● Measure TSH annually or sooner if evaluation of the cervical spine. Plain as a risk factor for sleep apnea.34 It radiographs do not predict well which child has symptoms that could be re- lated to thyroid dysfunction. is recognized that access to a pedi- children are at increased risk of devel- atric sleep laboratory or specialist ● oping spine problems, and normal ra- For children on a diet that contains may be limited for some popula- diographs do not provide assurance gluten, at each preventative care tions and geographic areas. that a child will not develop spine prob- visit review for symptoms poten- ● Maintain follow-up with a pediatric lems later.53,54 For these reasons, rou- tially related to celiac disease, in- cardiologist for patients with car- tine radiologic evaluation of the cervi- cluding diarrhea or protracted con- diac lesions even after complete re- cal spine in asymptomatic children is stipation, slow growth, unexplained pair to monitor for recurrent/resid- not recommended. Current evidence failure to thrive, anemia, abdominal ual lesions as well as development does not support performing routine pain or bloating, or refractory devel- of pulmonary hypertension. screening radiographs for assess- opmental or behavioral prob- ment of potential atlantoaxial instabil- lems.69–71 For those with symptoms, ● Monitor for neurologic dysfunction, ity in asymptomatic children.55–64 obtain a tissue transglutaminase including seizures. Parents should be advised that partic- immunoglobulin A (IgA) level and si- ● Obtain hemoglobin concentration
PEDIATRICS Volume 128, Number 2, August 2011 399 Downloaded from www.aappublications.org/news by guest on September 24, 2021 annually. Also, obtain serum ferritin ing into child’s personal space or on the basis of history of cardiac and CRP concentrations for any performing a procedure. Remind defects. child at risk of iron deficiency. patient and family that the only rea- ● Obtain hemoglobin concentration son anyone should be looking at or Anticipatory Guidance annually and serum ferritin and CRP touching private body parts is for or reticulocyte hemoglobin concen- ● Review early intervention, including health (doctor office visits) or hy- trations at annual visits for any physical therapy, occupational ther- 79 giene (bathing or showering). child at risk of iron deficiency on the apy, and speech therapy, at all ● On at least 1 well-child visit educate basis of history of decreased iron health maintenance visits. parents about increased risk of sex- intake. ● Discuss at the 30-month visit the ual exploitation, and remind them ● For children on a diet that contains transition from early intervention that likely perpetrators are people gluten, review for symptoms poten- to preschool, which occurs at 36 their child knows and trusts, not tially related to celiac disease at ev- months of age. Help the family un- strangers. derstand the change from the In- ery health maintenance visit and ● At least once between 1 and 5 years dividualized Family Service Plan evaluate if indicated. of age, as with discussion in the first (IFSP) in early intervention to the ● At each well-child visit, discuss with year of life, discuss future preg- Individualized Education Plan (IEP) parents the importance of universal nancy planning and review risk of through public education. precautions for protection of the recurrence of Down syndrome and ● cervical spine during any anes- Discuss with caregivers at every availability of prenatal diagnosis. visit the child’s behavioral and so- thetic, surgical, or radiographic ● cial progress. Refer children who Assess the child’s behavior and talk procedure. Perform careful history may have autism, attention-deficit/ about behavioral management, sib- and physical examination with at- hyperactivity disorder, or other psy- ling adjustments, socialization, and tention to myelopathic signs and chiatric or behavioral problems for recreational skills. symptoms. Parents should also be appropriate evaluation and inter- ● Encourage families to establish op- instructed to contact their physi- vention as soon as suspected. Au- timal dietary and physical exercise cian immediately for new onset of tism and other behavioral problems patterns that will prevent obesity. symptoms of myelopathy. occur with increased frequency in ● Be prepared to discuss and an- ● Counsel parents that some sports children with Down syndrome, and swer questions about treatments place children at increased risk of symptoms may manifest as early as that are considered complemen- spinal cord injury.65–67 2 or 3 years of age.73–76 tary and alternative. ● Monitor for neurologic dysfunction, ● Provide influenza vaccine annually. including seizures. Children with chronic cardiac or HEALTH SUPERVISION FROM 5 TO pulmonary disease should be given 13 YEARS: LATE CHILDHOOD ● Very dry skin, which may be a sign of the 23-valent pneumococcal poly- ● Obtain a history and perform a hypothyroidism, and other skin saccharide vaccine (PPS23) at 2 physical examination with attention problems are particularly common years or older.22 to growth and developmental status in patients with Down syndrome. ● Reassure parents that delayed and at each annual well-child visit. Therefore, be attentive to these der- matologic problems and discuss irregular dental eruption patterns ● Monitor growth patterns, especially them with the patient and family. are common and that hypodontia BMI, and emphasize healthy diet and occurs with increased frequency lifestyle for preventing obesity. ● Discuss symptoms related to ob- (23%).77,78 structive sleep apnea at every well- ● Obtain annual ear-specific audio- child visit, including snoring, rest- ● Encourage and model use of accu- logic evaluation. rate terms for genitalia and other less sleep, daytime sleepiness, ● Obtain ophthalmologic evaluation private body parts (penis, vulva) any nighttime awakening, behavior every 2 years. time these body parts are discussed problems, and abnormal sleep posi- or examined. Model respect for body ● Measure TSH annually; the risk of tion. Refer to a physician with exper- rights by reminding patients that hypothyroidism increases with tise in pediatric sleep any child with their body is their own and explain to age. signs or symptoms of obstructive the child what you will do before mov- ● Individualize cardiology follow-up sleep apnea or abnormal sleep-
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study results. Discuss obesity as a of psychotropic medications among wish to discuss sterilization, and risk factor of sleep apnea. children with Down syndrome, an- the pediatrician may review the ecdotal reports indicate that such topic in the American Academy of Anticipatory Guidance at Every children may differ in their re- Pediatrics policy statement “Ster- Health Maintenance Visit sponse to medications. ilization of Minors With Develop- 86 ● Review the child’s development and ● Counsel families regarding the tran- mental Disabilities.” appropriateness of school placement sition from elementary to middle ● Be prepared to discuss and answer and developmental intervention. school, when major change often questions regarding treatments ● Discuss socialization, family status, occurs, from 1 to many teachers that are considered complementary and relationships, including finan- and from 1 class to changing and alternative. cial arrangements, health insur- classes. Prepare them to facilitate ance, and guardianship. adjustment at a time when the ac- HEALTH SUPERVISION FROM 13 TO 21 YEARS OR OLDER: ● Discuss the development of age- ademic disparity becomes greater ADOLESCENCE TO EARLY appropriate social skills, self-help and full inclusion becomes more ADULTHOOD skills, and development of a sense difficult. of responsibility. ● Refer children who may have autism Physical Examination and ● Monitor for behavior problems that for appropriate evaluation and inter- Laboratory Values interfere with function in the home, vention as soon as suspected. ● Measure hemoglobin concentra- community, or school. Attention ● Continue to assess, monitor, and en- tion annually. problems, attention-deficit/hyper- courage independence with hygiene ● Measure TSH concentration annually. activity disorder, obsessive compul- and self-care. Encourage parents to ● Obtain annual ear-specific audio- sive behaviors, noncompliant be- teach, model, and respect privacy at logic evaluation. havior, and wandering off are some home and in the community. Discuss ● For children on a diet that contains of the common behavior concerns appropriate management of sexual gluten, review for symptoms poten- reported. Psychiatric disorders behaviors such as masturbation. seen in typically developing children tially related to celiac disease at ev- ● Discuss progression of physical may also occur. Evaluate for medi- ery health maintenance visit, and and psychosocial changes through cal problems that can be associated evaluate if indicated. puberty and issues of fertility and with behavior changes, including ● Individualize cardiology follow-up contraception.79,80 Remind parents thyroid abnormalities, celiac dis- on the basis of history of cardiac that physical development usually ease, sleep apnea, gastroesopha- defects. Discuss symptoms re- follows patterns similar to those geal reflux, and constipation. Inter- lated to obstructive sleep apnea, found in the general population, vention strategies depend on the including snoring, restless sleep, but the child with Down syndrome child’s age, the severity of the prob- daytime sleepiness, nighttime will likely need more preparation lem, and the setting in which the awakening, behavior problems, in understanding and managing problem occurs. Referral to com- and sleep position at every health them.81 munity treatment programs, psy- maintenance visit. Refer to a phy- chosocial services for consultative ● Discuss the need for gynecologic sician with expertise in pediatric care, or behavioral specialists expe- care in the pubescent girl. Talk with sleep any child with signs or symp- rienced in working with children the patient and her family about the toms of obstructive sleep apnea or with special needs may be neces- recurrence risk of Down syndrome an abnormal sleep-study result. sary. The use of medication for be- (50%) were she to become preg- Discuss the risk factor of obesity havior management should be dis- nant.82,83 Although males with Down for sleep apnea. cussed between the primary care syndrome are usually infertile, ● Discuss with parents and the pa- physician and specialists involved in there have been rare instances in tient at every visit the importance of the child’s care, because children which a male has reproduced.83–85 cervical spine-positioning precau- with Down syndrome may be more Birth control and prevention of tions for protection of the cervical sensitive to certain medications. Al- sexually transmitted diseases spine during any anesthetic, surgi- though there has been little re- should be discussed with patients cal, or radiographic procedure. Per- search to directly address the use and their families. Families may form careful history and physical
PEDIATRICS Volume 128, Number 2, August 2011 401 Downloaded from www.aappublications.org/news by guest on September 24, 2021 examination with attention to myo- ● Discuss appropriateness of school drome could be enhanced through pathic signs and symptoms. Parents placement, and emphasize planning population-based research. A rigorous and patients should also be in- for transition to adulthood and ade- evidence-based review of screening structed to contact their physician quate vocational training within the and treatment for atlantoaxial instabil- immediately for new onset of symp- school curriculum.90,91 ity, for example, is needed,94 and con- toms of myopathy. ● Talk with the female patient and her tinuing research is critical for direct- ● Counsel parents that some sports family about the recurrence risk of ing the care for optimal outcomes of 1,95,96 place children at increased risk of Down syndrome should she become persons with Down syndrome. spinal cord injury.65–67 pregnant. ACKNOWLEDGMENT ● ● Continue to assess, monitor, and en- Monitor for signs of other neurologic The mentoring and contributions of Dr. courage independence with hygiene dysfunction, including seizures. William Cohen have been sincerely ap- and self-care. Provide guidance on ● Obtain ophthalmologic evaluation preciated and were integral to the de- healthy, normal, and typical sexual every 3 years. Check for onset of velopment of this clinical report. His development and behaviors. Empha- cataracts, refractive errors, and untimely death is a great loss to his size the need for understandable in- keratoconus, which can cause patients and their families, his col- formation, and encourage opportu- blurred vision, corneal thinning, leagues, and the greater medical com- nities for advancing comprehension or corneal haze and is typically di- munity. This clinical report is dedi- of sexuality. Discuss the need for agnosed after puberty. cated to his memory. contraception and prevention of ● Examine annually for acquired mi- sexually transmitted diseases and LEAD AUTHOR tral and aortic valvular disease in the degree of supervision required. Marilyn J. Bull, MD older patients with Down syndrome. Advocate for the least invasive and COMMITTEE ON GENETICS, 2010–2011 An echocardiogram should be ob- least permanent method of birth Howard M. Saal, MD, Chairperson tained if there is a history of in- control and be familiar with local Stephen R. Braddock, MD creasing fatigue, shortness of law and resources to assist the fam- Gregory M. Enns, MB, ChB breath, or exertional dyspnea or ab- Jeffrey R. Gruen, MD ily in their decision-making regard- James M. Perrin, MD normal physical examination find- ing questions about sterilization.86 Robert A. Saul, MD ings, such as a new murmur or gallop. Beth Anne Tarini, MD ● Make recommendations and provide Discuss skin, hair, and scalp care at or refer for routine gynecologic care FORMER COMMITTEE ON GENETICS each preventive health care visit. MEMBERS if not already provided. Discuss pre- Marilyn J. Bull, MD menstrual behavioral problems and Anticipatory Guidance at Every Joseph H. Hersh, MD management of menses.92 Nancy J. Mendelsohn, MD Health Maintenance Visit ● Discuss group homes and indepen- LIAISONS ● Discuss issues related to transition dent living opportunities, workshop James W. Hanson, MD – American College of into adulthood, including guardian- settings, and other community- Medical Genetics ship and long-term financial planning Michele Ann Lloyd-Puryear, MD, PhD – Health supported employment. from early adolescence. Potential Resources and Services Administration ● Discuss intrafamily relationships, fi- Thomas J. Musci, MD – American College of adult morbidities including apparent Obstetricians and Gynecologists tendency toward premature aging nancial planning, and guardianship. Sonja Ann Rasmussen, MD, MS – Centers for and increased risk of Alzheimer dis- ● Facilitate transition to adult medical Disease Control and Prevention ease may also be discussed.87 care.93 CONTRIBUTOR Stephen M. Downs, MD—Partnership for ● Monitor growth patterns, especially FUTURE CONSIDERATIONS Policy Implementation BMI, and counsel regarding healthy diet Many issues related to the develop- STAFF and a structured exercise program. ment and health of people with Down Paul Spire ● Discuss behavioral and social syndrome remain to be evaluated, and RESOURCES FOR PARENTS states and refer patients who have research agendas for addressing both chronic behavioral problems or public health and basic science topics National Down Syndrome Society: manifest acute deterioration in have been developed. Knowledge in www.ndss.org. function for specialized evaluation several topics of great importance to National Down Syndrome Congress: and intervention.88,89 the care of children with Down syn- www.ndsccenter.org.
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PEDIATRICS Volume 128, Number 2, August 2011 405 Downloaded from www.aappublications.org/news by guest on September 24, 2021 APPENDIX 1 Health Supervision for Children With Down Syndrome
Prenatal Birth–1 mo 1 mo–1 y 1–5 y 5–13 y 13–21 y
Counseling regarding prenatal screening test & imaging results Plan for delivery Referral to gene cist Parent-to-parent contact, support groups, current books and
pamphlets Physical exam for evidence of trisomy 21 Chromosomal analysis to confirm dx Discuss risk of recurrence of Down syndrome Echocardiogram Radiographic swallowing assessment if marked hypotonia, slow feeding, choking with feeds, recurrent or persistent respiratory sx, FTT Eye exam for cataracts Newborn hearing screen and follow-up Hx and PE assessment for duodenal or anorectal atresia Reassure parents delayed and irregular dental erup on,
hypodon a are common If cons pa on, evaluate for limited diet or fluids, hypotonia, Any visit hypothyroidism, GI malforma on, Hirschsprung CBC to R/O transient myeloprolifera ve disorder, polycythemia Hb annually; CRP & ferri n or CHr if possible risk iron deficiency Annually or Hb <11 g. Hemoglobin Annually 6 and 12 Annually TSH (may be part of newborn screening) mo Discuss risk of respiratory infec on If cardiac surgery or hypotonic: evaluate apnea, bradycardia, or
oxygen desatura on in car seat before discharge Discuss complementary & alterna ve therapies All health maint. visits Discuss cervical spine posi oning, especially for anesthesia or All health maint. visits surgical or radiologic procedures Review signs and symptoms of myopathy All health maint. visits If myopathic signs or symptoms: obtain neutral posi on spine films and, if normal, obtain flexion & extension films & refer to Any visit pediatric neurosurgeon or orthopedic surgeon with exper se in evalua ng and trea ng atlanto-axial instability Instruct to contact physician for change in gait, change in use of arms or hands, change in bowel or bladder func on, neck pain, Biennially head lt, tor collis, or new-onset weakness Advise risk of some contact sports, trampolines All health maint. visits Audiology evalua on at 6 mo If normal hearing established, behavioral audiogram and Every 6 tympanometry un l bilateral ear specific tes ng possible. Refer mo child with abnormal hearing to ot If normal ear-specific hearing established, behavioral audiogram Annually Assess for obstruc ve sleep apnea Sx All health maint. visits Sleep study by age 4 years Ophthalmology referral to assess for strabismus, cataracts, and
nystagmus Refer to pediatric ophthalmologist or ophthalmologist with Annually Every 2 y Every 3 y experience with Down syndrome If congenital heart disease, monitor for signs & Sx of Conges ve All visits heart failure Assess the emo onal status of parents and intrafamilial All health maint. visits rela onships Check for Sx of celiac disease; if Sx present, obtain ssue All health maint. visits transglutaminase IgA & quan ta ve IgA Early interven on: physical, occupa onal, and speech therapy Health maint. visits At 30 months, discuss transi on to preschool and development
of IEP Discuss behavioral and social progress Health maint. visits Health Discuss self-help skills, ADHD, OCD, wandering off, transi on to maint. middle school visits If chronic cardiac or pulmonary disease, 23-valent pneumococcal
vaccine at age >2 y Reassure regarding delayed and irregular dental erup on Health Establish op mal dietary and physical exercise paerns maint. visits Discuss dermatologic issues with parents Discuss physical and psychosocial changes though puberty, need
for gynecologic care in the pubescent female Facilitate transi on: guardianship, financial planning, behavioral Health problems, school placement, voca onal training, independence maint. with hygiene and self-care, group homes, work sengs visits Health Discuss sexual development and behaviors, contracep on, maint. sexually transmied diseases, recurrence risk for offspring visits
Do once at this age Do if not done previously Repeat at indicated intervals
Maint. indicates maintenance; dx, diagnosis; sx, symptoms; FTT, failure to thrive; Hx, history; PE, physician examination; Gl, gastrointestinal; CBC, complete blood count; R/O, rule out; Hb, hemoglobin; ot, occupational therapy; CHr, reticulocyte hemoglobin; IgA, immunoglobulin A; IEP, Individualized Education Plan; ADHD, attention-deficit/hyperactivity disorder; OCD, obsessive compulsive disorder.
406 FROM THE AMERICAN ACADEMY OF PEDIATRICS Downloaded from www.aappublications.org/news by guest on September 24, 2021 Health Supervision for Children With Down Syndrome Marilyn J. Bull and the Committee on Genetics Pediatrics 2011;128;393 DOI: 10.1542/peds.2011-1605 originally published online July 25, 2011;
Updated Information & including high resolution figures, can be found at: Services http://pediatrics.aappublications.org/content/128/2/393 References This article cites 79 articles, 18 of which you can access for free at: http://pediatrics.aappublications.org/content/128/2/393#BIBL Subspecialty Collections This article, along with others on similar topics, appears in the following collection(s): Current Policy http://www.aappublications.org/cgi/collection/current_policy Council on Genetics http://www.aappublications.org/cgi/collection/committee_on_genetic s Genetics http://www.aappublications.org/cgi/collection/genetics_sub Permissions & Licensing Information about reproducing this article in parts (figures, tables) or in its entirety can be found online at: http://www.aappublications.org/site/misc/Permissions.xhtml Reprints Information about ordering reprints can be found online: http://www.aappublications.org/site/misc/reprints.xhtml
Downloaded from www.aappublications.org/news by guest on September 24, 2021 Health Supervision for Children With Down Syndrome Marilyn J. Bull and the Committee on Genetics Pediatrics 2011;128;393 DOI: 10.1542/peds.2011-1605 originally published online July 25, 2011;
The online version of this article, along with updated information and services, is located on the World Wide Web at: http://pediatrics.aappublications.org/content/128/2/393
Data Supplement at: http://pediatrics.aappublications.org/content/suppl/2012/08/03/peds.2011-1605.DC1
Pediatrics is the official journal of the American Academy of Pediatrics. A monthly publication, it has been published continuously since 1948. Pediatrics is owned, published, and trademarked by the American Academy of Pediatrics, 345 Park Avenue, Itasca, Illinois, 60143. Copyright © 2011 by the American Academy of Pediatrics. All rights reserved. Print ISSN: 1073-0397.
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