Down Syndrome Wendy L. Hobson-Rohrer and Lisa Samson-Fang Pediatrics in Review 2013;34;573 DOI: 10.1542/pir.34-12-573
The online version of this article, along with updated information and services, is located on the World Wide Web at: http://pedsinreview.aappublications.org/content/34/12/573
Pediatrics in Review is the official journal of the American Academy of Pediatrics. A monthly publication, it has been published continuously since 1979. Pediatrics in Review is owned, published, and trademarked by the American Academy of Pediatrics, 141 Northwest Point Boulevard, Elk Grove Village, Illinois, 60007. Copyright © 2013 by the American Academy of Pediatrics. All rights reserved. Print ISSN: 0191-9601.
Downloaded from http://pedsinreview.aappublications.org/ at University of Illinois at Chicago Library on October 29, 2014
in brief
In Brief Down Syndrome Wendy L. Hobson-Rohrer, MD, MSPH Lisa Samson-Fang, MD University of Utah, Salt Lake City, UT
Author Disclosure Drs Hobson-Rohrer and Samson-Fang have disclosed no financial relationships relevant to this article. This commentary does not contain discussion of unapproved/ investigative use of a commercial product/device.
Health Supervision for Children With Down Syndrome. American Academy of Pediatrics Committee on Genetics. Pediatrics. 2011;128(2):393–406 Updated National Birth Prevalence Estimates for Selected Birth Defects in the United States, 2004-2006. Parker SE, Mai CT, Canfield MA, et al; for the National Birth Defects Prevention Network. Birth Defects Res A Clin Mol Teratol. 2010;88(12):1008–1016 Down Syndrome. In: Jones K. Smith’s Recognizable Patterns of Human Malformation. 5th ed. Philadelphia, PA: Saunders; 1997:8–13 Current Dilemmas in Down Syndrome Clinical Care: Celiac Disease, Thyroid Disorders, and Atlantoaxial Instability. Cohen WI. Am J Med Genet C Semin Med Genet. 2006;142C(3):141–148
Down syndrome (DS) is one of the most common genetic conditions. Incidence of DS is 1 in 691 births but varies greatly with maternal age (eg, for women age 35–39 years, the incidence increases to 1 in 270). Most cases of DS are due to sporadic mutations that result in an extra chromosome 21. Generally, the recurrence risk is approximately 1% or the
maternal age–related risk (whichever is higher). Yet, the risk of having another child with DS is greater for a young woman who is a carrier of a balanced translocation than for a middle-aged woman. It is critical that all children born with DS have chromosome analysis to identify those having a translocation and ensure accurate genetic counseling for the family. Screening for DS should be offered to all pregnant women. Prior screening guidelines identified 50% of infants in utero, whereas new screening guidelines have first trimester detection rates of 82% to 85% and second trimester rates of 80%; combination screening during both trimesters identifies 95% of cases. When an infant is born with DS, parents wish to be congratulated on the birth and then receive disclosure of the diagnosis in a sensitive manner. Principles of sharing the difficult news aspects of the infant’s condition appropriately include disclosing concern as soon as suspicion exists, telling both parents at the same time, and explaining the range of variability of presentations and the potential associated medical conditions. Physical features of DS are variable and include hypotonia, epicanthal folds, flat nasal bridge, slanted palpebral fissures, speckling of the iris, abnormal auricles, hyperflexibility, excessive skinfolds in the posterior aspect of the neck, a single transverse palmar crease, and a wide gap between the first and second toes. Certain medical problems occur with a high prevalence in children born with DS, forming the basis for the recommendations for the health supervision of these children. Many common illnesses occur more frequently, including
acute and serous otitis media, sinusitis, and vision problems. Because 40% to 50% of children with DS may have a cardiac anomaly, all infants should undergo screening echocardiography. Clinicians should evaluate infants with any sign that may suggest a gastrointestinal malformation because these conditions comprise the second most common major area of congenital anomaly occurring in DS and include duodenal atresia, tracheoesophageal fistula, Hirschsprung disease, and imperforate anus. By adulthood, up to 75% of individuals with DS will develop hearing problems, 15% will develop cataracts, 50% to 75% will develop obstructive sleep apnea, and 5% will develop celiac disease. Up to 13% of children with DS may develop a seizure disorder. Autoimmune thyroid disease increases in prevalence with age, and 60% develop hypothyroidism by adulthood. Children with DS tend to have weaker immune systems and should be monitored closely when ill. The 2011 updated guidelines published by the American Academy of Pediatrics should be followed, which recommend annual screening for many of the above conditions and periodic surveillance for others. Hematologic problems are also relatively common in children born with DS. Ten percent will have a transient myeloproliferative disorder at birth, whereas 1% of patients with DS will develop leukemia during a lifetime. Congenital myeloproliferative conditions generally resolve but are a risk factor for later development of leukemia. Guidelines recommend a complete blood cell count at birth. If a newborn has a normal blood cell count, no further monitoring is recommended; however, if the child manifests signs such as petechiae, weight Pediatrics in Review Vol.34 No.12 December 2013 573
Downloaded from http://pedsinreview.aappublications.org/ at University of Illinois at Chicago Library on October 29, 2014
in brief
loss, pallor, or fevers, a complete blood cell count should be obtained. Guidelines also recommend yearly monitoring of hemoglobin concentration (with a ferritin level and C-reactive protein measurement) if the child has any risk factors for iron deficiency. Although earlier 2001 American Academy of Pediatrics health supervision guidelines recommended cervical spine radiographs performed between ages 3 and 5 years in children born with DS, the 2011 guidelines do not. Although children with DS have a 1% to 2% risk of atlantoaxial instability, evidence does not support routine radiographic screening. However, careful surveillance is imperative. Because certain sports place children with DS at an increased risk of spinal cord injury, the Special Olympics organization may require radiographs for participation. At least twice a year, the clinician should review with parents that the
cervical spine must be protected and that excessive extension or flexion during anesthetic, surgical, or radiographic procedures must be avoided. The clinician should also perform a neurologic examination to monitor for emergence of increased tone or hyperreflexia. Children with DS should avoid sports such as soccer, football, gymnastics, and trampoline use. Parents should be advised that if they note changes in gait, arm or hand function, or bowel or bladder control, as well as weakness, atypical head positioning, or chronic neck pain, they should consult their primary care physician promptly because further evaluation is warranted. Comments: DS was first described by J. L. H. Down in 1866. Because there is great variability in presentation, parents must receive a balanced perspective when being counseled. Prenatal imaging may help in better defining car-
diac and gastrointestinal malformations. Parents and families benefit from the support of a skilled primary care physician who provides evidence-based health anticipatory guidance and assists them in understanding the developmental abilities of the child while establishing realistic expectations. Parents value having access to other parents who have children with DS within a practice or through local or national organizations and benefit from counseling regarding the emotional health of siblings and family members. DS is another example of a disease with broad phenotypic differences. Transitions to adult medical care are imperative to address issues of fertility and contraception, along with future employment opportunities and living arrangements as these patients enter adulthood. Janet R. Serwint, MD Consulting Editor, In Brief
Parent Resources From the AAP at HealthyChildren.org • English: http://www.healthychildren.org/English/health-issues/conditions/developmental-disabilities/Pages/Children-
with-Down-Syndrome-Health-Care-Information-for-Families.aspx • English: http://www.healthychildren.org/English/health-issues/conditions/developmental-disabilities/Pages/Down-
Syndrome.aspx
Answer Key for December 2013 Issue: Type 2 Diabetes Mellitus: 1. C; 2. A; 3. B; 4. D; 5. E. Managing Feeding Problems and Feeding Disorders: 1. D; 2. C; 3. B; 4. D; 5. D. Human Metapneumovirus: 1. C; 2. D; 3. E; 4. E; 5. D.
574 Pediatrics in Review Vol.34 No.12 December 2013
Downloaded from http://pedsinreview.aappublications.org/ at University of Illinois at Chicago Library on October 29, 2014
Down Syndrome Wendy L. Hobson-Rohrer and Lisa Samson-Fang Pediatrics in Review 2013;34;573 DOI: 10.1542/pir.34-12-573
Updated Information & Services
including high resolution figures, can be found at: http://pedsinreview.aappublications.org/content/34/12/573
References
This article cites 3 articles, 1 of which you can access for free at: http://pedsinreview.aappublications.org/content/34/12/573#BIBL
Subspecialty Collections
This article, along with others on similar topics, appears in the following collection(s): Development/Behavioral Issues http://pedsinreview.aappublications.org/cgi/collection/development:b ehavioral_issues_sub Cognition/Language/Learning Disorders http://pedsinreview.aappublications.org/cgi/collection/cognition:lang uage:learning_disorders_sub Genetics http://pedsinreview.aappublications.org/cgi/collection/genetics_sub Epigenetics http://pedsinreview.aappublications.org/cgi/collection/epigenetics_su b
Permissions & Licensing
Information about reproducing this article in parts (figures, tables) or in its entirety can be found online at: http://pedsinreview.aappublications.org/site/misc/Permissions.xhtml
Reprints
Information about ordering reprints can be found online: http://pedsinreview.aappublications.org/site/misc/reprints.xhtml
Downloaded from http://pedsinreview.aappublications.org/ at University of Illinois at Chicago Library on October 29, 2014
The online version of this article, along with updated information and services, is located on the World Wide Web at: http://pedsinreview.aappublications.org/content/34/12/573
Pediatrics in Review is the official journal of the American Academy of Pediatrics. A monthly publication, it has been published continuously since 1979. Pediatrics in Review is owned, published, and trademarked by the American Academy of Pediatrics, 141 Northwest Point Boulevard, Elk Grove Village, Illinois, 60007. Copyright © 2013 by the American Academy of Pediatrics. All rights reserved. Print ISSN: 0191-9601.
Downloaded from http://pedsinreview.aappublications.org/ at University of Illinois at Chicago Library on October 29, 2014
in brief
In Brief Down Syndrome Wendy L. Hobson-Rohrer, MD, MSPH Lisa Samson-Fang, MD University of Utah, Salt Lake City, UT
Author Disclosure Drs Hobson-Rohrer and Samson-Fang have disclosed no financial relationships relevant to this article. This commentary does not contain discussion of unapproved/ investigative use of a commercial product/device.
Health Supervision for Children With Down Syndrome. American Academy of Pediatrics Committee on Genetics. Pediatrics. 2011;128(2):393–406 Updated National Birth Prevalence Estimates for Selected Birth Defects in the United States, 2004-2006. Parker SE, Mai CT, Canfield MA, et al; for the National Birth Defects Prevention Network. Birth Defects Res A Clin Mol Teratol. 2010;88(12):1008–1016 Down Syndrome. In: Jones K. Smith’s Recognizable Patterns of Human Malformation. 5th ed. Philadelphia, PA: Saunders; 1997:8–13 Current Dilemmas in Down Syndrome Clinical Care: Celiac Disease, Thyroid Disorders, and Atlantoaxial Instability. Cohen WI. Am J Med Genet C Semin Med Genet. 2006;142C(3):141–148
Down syndrome (DS) is one of the most common genetic conditions. Incidence of DS is 1 in 691 births but varies greatly with maternal age (eg, for women age 35–39 years, the incidence increases to 1 in 270). Most cases of DS are due to sporadic mutations that result in an extra chromosome 21. Generally, the recurrence risk is approximately 1% or the
maternal age–related risk (whichever is higher). Yet, the risk of having another child with DS is greater for a young woman who is a carrier of a balanced translocation than for a middle-aged woman. It is critical that all children born with DS have chromosome analysis to identify those having a translocation and ensure accurate genetic counseling for the family. Screening for DS should be offered to all pregnant women. Prior screening guidelines identified 50% of infants in utero, whereas new screening guidelines have first trimester detection rates of 82% to 85% and second trimester rates of 80%; combination screening during both trimesters identifies 95% of cases. When an infant is born with DS, parents wish to be congratulated on the birth and then receive disclosure of the diagnosis in a sensitive manner. Principles of sharing the difficult news aspects of the infant’s condition appropriately include disclosing concern as soon as suspicion exists, telling both parents at the same time, and explaining the range of variability of presentations and the potential associated medical conditions. Physical features of DS are variable and include hypotonia, epicanthal folds, flat nasal bridge, slanted palpebral fissures, speckling of the iris, abnormal auricles, hyperflexibility, excessive skinfolds in the posterior aspect of the neck, a single transverse palmar crease, and a wide gap between the first and second toes. Certain medical problems occur with a high prevalence in children born with DS, forming the basis for the recommendations for the health supervision of these children. Many common illnesses occur more frequently, including
acute and serous otitis media, sinusitis, and vision problems. Because 40% to 50% of children with DS may have a cardiac anomaly, all infants should undergo screening echocardiography. Clinicians should evaluate infants with any sign that may suggest a gastrointestinal malformation because these conditions comprise the second most common major area of congenital anomaly occurring in DS and include duodenal atresia, tracheoesophageal fistula, Hirschsprung disease, and imperforate anus. By adulthood, up to 75% of individuals with DS will develop hearing problems, 15% will develop cataracts, 50% to 75% will develop obstructive sleep apnea, and 5% will develop celiac disease. Up to 13% of children with DS may develop a seizure disorder. Autoimmune thyroid disease increases in prevalence with age, and 60% develop hypothyroidism by adulthood. Children with DS tend to have weaker immune systems and should be monitored closely when ill. The 2011 updated guidelines published by the American Academy of Pediatrics should be followed, which recommend annual screening for many of the above conditions and periodic surveillance for others. Hematologic problems are also relatively common in children born with DS. Ten percent will have a transient myeloproliferative disorder at birth, whereas 1% of patients with DS will develop leukemia during a lifetime. Congenital myeloproliferative conditions generally resolve but are a risk factor for later development of leukemia. Guidelines recommend a complete blood cell count at birth. If a newborn has a normal blood cell count, no further monitoring is recommended; however, if the child manifests signs such as petechiae, weight Pediatrics in Review Vol.34 No.12 December 2013 573
Downloaded from http://pedsinreview.aappublications.org/ at University of Illinois at Chicago Library on October 29, 2014
in brief
loss, pallor, or fevers, a complete blood cell count should be obtained. Guidelines also recommend yearly monitoring of hemoglobin concentration (with a ferritin level and C-reactive protein measurement) if the child has any risk factors for iron deficiency. Although earlier 2001 American Academy of Pediatrics health supervision guidelines recommended cervical spine radiographs performed between ages 3 and 5 years in children born with DS, the 2011 guidelines do not. Although children with DS have a 1% to 2% risk of atlantoaxial instability, evidence does not support routine radiographic screening. However, careful surveillance is imperative. Because certain sports place children with DS at an increased risk of spinal cord injury, the Special Olympics organization may require radiographs for participation. At least twice a year, the clinician should review with parents that the
cervical spine must be protected and that excessive extension or flexion during anesthetic, surgical, or radiographic procedures must be avoided. The clinician should also perform a neurologic examination to monitor for emergence of increased tone or hyperreflexia. Children with DS should avoid sports such as soccer, football, gymnastics, and trampoline use. Parents should be advised that if they note changes in gait, arm or hand function, or bowel or bladder control, as well as weakness, atypical head positioning, or chronic neck pain, they should consult their primary care physician promptly because further evaluation is warranted. Comments: DS was first described by J. L. H. Down in 1866. Because there is great variability in presentation, parents must receive a balanced perspective when being counseled. Prenatal imaging may help in better defining car-
diac and gastrointestinal malformations. Parents and families benefit from the support of a skilled primary care physician who provides evidence-based health anticipatory guidance and assists them in understanding the developmental abilities of the child while establishing realistic expectations. Parents value having access to other parents who have children with DS within a practice or through local or national organizations and benefit from counseling regarding the emotional health of siblings and family members. DS is another example of a disease with broad phenotypic differences. Transitions to adult medical care are imperative to address issues of fertility and contraception, along with future employment opportunities and living arrangements as these patients enter adulthood. Janet R. Serwint, MD Consulting Editor, In Brief
Parent Resources From the AAP at HealthyChildren.org • English: http://www.healthychildren.org/English/health-issues/conditions/developmental-disabilities/Pages/Children-
with-Down-Syndrome-Health-Care-Information-for-Families.aspx • English: http://www.healthychildren.org/English/health-issues/conditions/developmental-disabilities/Pages/Down-
Syndrome.aspx
Answer Key for December 2013 Issue: Type 2 Diabetes Mellitus: 1. C; 2. A; 3. B; 4. D; 5. E. Managing Feeding Problems and Feeding Disorders: 1. D; 2. C; 3. B; 4. D; 5. D. Human Metapneumovirus: 1. C; 2. D; 3. E; 4. E; 5. D.
574 Pediatrics in Review Vol.34 No.12 December 2013
Downloaded from http://pedsinreview.aappublications.org/ at University of Illinois at Chicago Library on October 29, 2014
Down Syndrome Wendy L. Hobson-Rohrer and Lisa Samson-Fang Pediatrics in Review 2013;34;573 DOI: 10.1542/pir.34-12-573
Updated Information & Services
including high resolution figures, can be found at: http://pedsinreview.aappublications.org/content/34/12/573
References
This article cites 3 articles, 1 of which you can access for free at: http://pedsinreview.aappublications.org/content/34/12/573#BIBL
Subspecialty Collections
This article, along with others on similar topics, appears in the following collection(s): Development/Behavioral Issues http://pedsinreview.aappublications.org/cgi/collection/development:b ehavioral_issues_sub Cognition/Language/Learning Disorders http://pedsinreview.aappublications.org/cgi/collection/cognition:lang uage:learning_disorders_sub Genetics http://pedsinreview.aappublications.org/cgi/collection/genetics_sub Epigenetics http://pedsinreview.aappublications.org/cgi/collection/epigenetics_su b
Permissions & Licensing
Information about reproducing this article in parts (figures, tables) or in its entirety can be found online at: http://pedsinreview.aappublications.org/site/misc/Permissions.xhtml
Reprints
Information about ordering reprints can be found online: http://pedsinreview.aappublications.org/site/misc/reprints.xhtml
Downloaded from http://pedsinreview.aappublications.org/ at University of Illinois at Chicago Library on October 29, 2014
