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

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

Disclosures

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

In This Article

Birth to 1 Month

When parents are given the diagnosis of DS following the birth of a child, they often react with fear, sadness, and confusion. Inevitably they will have many questions about their child's future. Clinicians should be aware of the regional resources on DS and may refer families to a local DS Center as a source of information or to provide clinical care to the child ( Box 1 ). Clinicians also may provide a list of recommended books and Web sites for families ( Box 1 and Box 2 ).

When newborns are seen for their first routine visit, the following should be included in the visit in addition to routine pediatric care:

History

  • Review diagnosis of DS with the parents and explore the family's response. With a balanced point of view, discuss the condition, allowing the parents to freely express their emotions. Review the chromosomal karyotype and phenotype. What does the family know about DS? What resources have they used? What outstanding questions do they have?

  • Review the mechanism for occurrence of the disorder and the family's potential recurrence rate. This review also may be done by a genetics counselor.

  • Review DS-associated medical conditions and the prognosis of any prenatally diagnosed conditions (e.g., fetal echocardiogram, ultrasound for gastrointestinal malformations).

  • A wide range of variability of conditions exists, including cognitive limitations, and this variability should be discussed with parents.

  • Current and available treatments and interventions for medical conditions, including the efficacy, potential complications, adverse effects, and costs, should be reviewed.

  • Early intervention should be discussed. Early intervention refers to an array of specialized programs and related resources that are available to children with DS that may include occupational, physical, and speech therapy, special education, and nutritional and social work support. These interventions traditionally are provided in the home for children from birth to 3 years of age. From 3 years of age through age 21 years, the local school district is responsible for the relevant developmental and educational services. These services are federally funded and administered at the state and county level.

  • The infant should be evaluated for heart defects by a pediatric cardiologist, and the evaluation should include an echocardiogram (even in the absence of a murmur). If subacute bacterial endocarditis (SBE) prophylaxis is indicated, reinforce its importance with parents.

  • Evaluate the child's ability to feed, because low muscle tone may cause difficulty with sucking or coordination of feeding. Review caloric intake to ensure adequate growth. Provide lactation support for those mothers who wish to breast feed.

  • Obtain a history regarding the infant's stool pattern, including consistency and frequency, because infants with DS often have constipation. Consider a referral to rule out Hirschsprung disease in cases of severe constipation.

  • Universal newborn hearing screening is recommended at birth (Joint Committee on Infant Hearing et al., 2000). If this screening has not been done, refer the child for an auditory brainstem response or otoacoustic emission to assess sensorineural hearing status by 3 months of age.

  • Refer to a pediatric opthalmologist by 6 months of age for screening purposes. Refer immediately for concerns of nystagmus, cataracts, or strabismus.

  • Review newborn screening results with attention to thyroid function.

  • A complete blood cell count or hematocrit should be performed to investigate plethora (polycythemia) or thrombocytopenia (which may represent possible myeloproliferative disorder).

Physical Examination

  • Growth parameters (height, weight, and head circumference) should be charted using growth charts for typical children and for children with DS. DS growth charts may be obtained at the following Web site: www.growthcharts.com.

  • A complete physical examination should be performed with identification of any physical characteristics associated with DS, including a short head (brachycephaly), flat facial features, a small nose, upslanted palpebral fissures, epicanthal folds, small, abnormally shaped ears, and Brushfield spots. Most infants (87%) will haves loose skin on the nape of the neck. Other characteristics include a single palmar crease (bilateral or unilateral), low muscle tone (babies appear "floppy"), hyperextensibility of joints, clinodactyly (hypoplastic middle phalanx of the fifth finger), and an extra space between the first and second toe (sandal toe). Infants also often have cutis marmorata, which is a lace-like appearance of the skin. Review with the family the physical findings that are associated with DS.

  • Perform an ophthalmologic examination, carefully assessing for a red reflex to rule out dense congenital cataracts. An enlarged posterior fontanelle could signify hypothyroidism. Perform cardiac examination and examine for plethora and thrombocytopenia.

Anticipatory Guidance

  • Provide information about early intervention and refer the infant for enrollment in a local program.

  • Provide the family with a list of resources, including local DS parent support groups, as well as books and Web site information ( Box 1 and Box 2 ). The poem Welcome to Holland ( Box 3 ) is a tool many clinicians use to help parents adjust to having a child with DS.

  • Parents most likely will want to discuss their concerns about their child's cognitive potential. Most children with DS will have cognitive limitations. The goal of the health program and early intervention is to maximize the child's ability to become a productive member of society by identifying and treating medical conditions and providing early and aggressive developmental interventions. Until a child is older, it is difficult to tell his or her cognitive potential.

  • Review the family's support system, such as family, friends, and spiritual community. Assess the need for additional support and provide referrals as needed.

  • Discuss how and what to tell family and friends about the baby having DS.

  • Discuss the infant's susceptibility to upper respiratory tract infections (URIs) due to a narrow upper airway. Describe to parents when they should be concerned about an infant's breathing (e.g., stridor, retractions, increased respiratory rate, or difficulty with feeding).

  • Hypotonia is present in almost all infants with DS. Describe this physical difference to parents and its effect on motor development. Explain that muscle tone is the resistance to movement when the child is at rest. This is to be distinguished from strength, which is measured when the child is actively moving.

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