Part I: Clinical Practice Guidelines With Down Syndrome From Birth to 12 Years

Susan N. Van Cleve, MSN, RN, CPNP; William I. Cohen, MD


J Pediatr Health Care. 2006;20(1):47-54. 

In This Article


Down syndrome (DS) (trisomy 21) occurs in about one in 800 live births without predilection for race or socioeconomic class (Centers for Disease Control and Prevention, 1994); it is one of the most frequent genetic causes of mild to moderate mental retardation. In about 95% of children with DS, an extra chromosome 21 is found in all cells; translocation and mosaicism account for the remaining 5% (Committee on Genetics, American Academy of Pediatrics [AAP], 2001).

Children with DS have a variety of congenital malformations and medical conditions, including an increased risk for cardiac defects (50%), with atrioventricular septal defect the most common; eye disease (60%); hearing loss (75%); otitis media (50% to 75%); obstructive sleep apnea (50% to 75%); thyroid disease (15%); gastrointestinal abnormalities (5%), including duodenal stenosis/atresia (50%), imperforate anus (20%), Hirschsprung disease (10%); and leukemia (< 1%) (Cohen, 1999; Committee on Genetics, 2001). As nurse practitioners (NPs) expand their work settings to include specialty and acute care, children with DS will be among those receiving care. To effectively work with this population, NPs and other health care providers must have the knowledge and expertise to understand children with DS and their unique medical and developmental differences.

The Down Syndrome Medical Interest Group and the Committee on Genetics of the AAP have developed health supervision guidelines to help clinicians manage care for children with DS (Cohen, 1999; Committee on Genetics, 2001). Because children with DS are at risk for multiple medical and developmental conditions, routine assessment and monitoring should be done. Figure 1 is a sample of a record sheet that can be used in addition to the non-Down syndrome schedule for health supervision (Committee on Practice and Ambulatory Medicine, AAP, 2000). Record sheets for DS health care are available at the following Web site:

Figure 1.

Down Syndrome Health Care Guidelines (1999 Revision) Record Sheet, Sheet No. 1: Birth to Age 12 Years

The purpose of this review is to update and summarize the nationally recognized practice guidelines for children with DS and to provide clinicians with information that will prepare them to meet the challenge of working with this special population.


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