Heinzman, D. and Khan, S (July 2010). Down Syndrome. Accessed via MDConsult on February 4, 2011 at http://phstwlp1.partners.org:2872/das/pdxmd/body/235051741-11/1114849877?type=med&eid=9-u1.0-_1_mt_1014362#Contributors
Chen H. (Feb 20110). Down Syndrome. Accessed via eMedicine on February 6, 2011 from http://emedicine.medscape.com/article/943216-overview
Chen H. (Feb 20110). Down Syndrome. Accessed via eMedicine on February 6, 2011 from http://emedicine.medscape.com/article/943216-overview
American Congress of Obstetrics & Gynecology (2007). New Recommendations for Down Syndrome: Screening Should Be Offered to All Pregnant Women. Accessed on February 4, 2011 from http://www.acog.org/from_home/publications/press_releases/nr01-02-07-1.cfm
Families weigh this decision individually Barss, V.A., Messerlian, G.M., & Canick, J.A. (2009). Overview of prenatal screening and diagnosis of Down syndrome. Accessed via UptoDate on January 31, 2011 from http://www.uptodate.com/online/content/topic.do?topicKey=antenatl/16784&source=see_link&anchor=H4#H4
The actual risk for the patient is provided in the report (eg, Down syndrome risk 1 in 900) and this number should be given to the patient. Barss, V.A., Messerlian, G.M., & Canick, J.A. (2009). Overview of prenatal screening and diagnosis of Down syndrome. Accessed via UptoDate on January 31, 2011 from http://www.uptodate.com/online/content/topic.do?topicKey=antenatl/16784&source=see_link&anchor=H4#H4
Barss, V.A., Messerlian, G.M., & Canick, J.A. (2009). Overview of prenatal screening and diagnosis of Down syndrome. Accessed via UptoDate on January 31, 2011 from http://www.uptodate.com/online/content/topic.do?topicKey=antenatl/16784&source=see_link&anchor=H4#H4
NST, BPP, antepartum tests: It is reasonable to use these tests for the usual obstetrical indications (eg, fetal growth restriction, oligohydramnios, preeclampsia, decreased fetal movement).
The baby is born, the NP needs to provide anticipatory guidance and emotional support. Goal at this time is to encourage a healthy bond. This is an emotional time for families whether it was prenatally diagnosed or not. There are terms to recognize in the physical presentation of DS but certainly these are more academic purposes, I don’t think parents want to hear upslanting palpebral fissures. They may have health promotion inquiries regarding their baby’s vision health instead. Physical Characteristics: Dysmorphic Features Brachycephaly Upslanting palpebral fissures Epicanthic folds Brushfield spots – small white/graying brown spots on periphery of the iris Flat nasal bridge Folded or dysplastic ears Small ears Open mouth Protruding tongue Furrowed tongue Narrow palate Abnormal teeth Short neck Excessive skin at nape of the neck
Physical Characteristics: Dysmorphic Features Affecting the Extremities Short broad hands Hypoplastic mid phalanx of fifth finger Incurved fifth finger Transverse palmar crease Space between the first and second toes (sandal gap deformity) Hyperflexibility of joints
A picture to depict common areas of concern which we’ll go over.
Roizen, N.J. and Stark, A.R. (Oct. 2009). Management of Down syndrome. Accessed via UpToDate on January 31, 2011 from http://www.uptodate.com/online/content/topic.do?topicKey=dis_chld/7271&source=related_link
The profile of cognitive impairment in DS appears to differ from other forms of intellectual disability. Impairment in expressive language was noted in another study of children with DS, who had fewer different and total words and decreased mean length of utterance compared to controls matched for nonverbal mental age. Vocabulary skills accelerated more rapidly than syntax (average sentence length and structure) and surpassed mental age in adolescence. Similar findings of increasing differences in comprehension with age were noted in another report, in which children with DS developed relatively stronger skills in vocabulary compared to syntax. Other selective deficits have been described, such as greater difficulty understanding sequences or grammatical rules. Barss, V.A., Messerlian, G.M., & Canick, J.A. (2009). Overview of prenatal screening and diagnosis of Down syndrome. Accessed via UptoDate on January 31, 2011 from http://www.uptodate.com/online/content/topic.do?topicKey=antenatl/16784&source=see_link&anchor=H4#H4
The cause of DS-associated growth retardation remains unknown; low circulating levels of IGF-1 and diminished provoked and spontaneous secretion of GH have been reported in some patients [ 36,37 ]. Serum GH levels are not low in children with DS [ 38,39 ], but suboptimal endogenous GH production as a result of hypothalamic dysfunction has been demonstrated [ 40 ]. Selective deficiency of IGF-1, but not IGF-II, has been seen in Down syndrome patients who are older than two years [ 41,42 ]. IGF-1 receptors are present in brain cells from fetuses with trisomy 21 [ 42 ]. This is thought to result from the reduced resting metabolic rate in children and adults with DS [ 43,44 ]. In general, weight is less than expected for length in infants with DS, and then increases disproportionally so [ 8 ]. Barss, V.A., Messerlian, G.M., & Canick, J.A. (2009). Overview of prenatal screening and diagnosis of Down syndrome. Accessed via UptoDate on January 31, 2011 from http://www.uptodate.com/online/content/topic.do?topicKey=antenatl/16784&source=see_link&anchor=H4#H4
This and the following information will help the NP provide good anticipatory guidance. Educate the parents that the growth and development growth charts available is standardized to capture average children without Down Syndrome, their baby will have their own growth chart Barss, V.A., Messerlian, G.M., & Canick, J.A. (2009). Overview of prenatal screening and diagnosis of Down syndrome. Accessed via UptoDate on January 31, 2011 from http://www.uptodate.com/online/content/topic.do?topicKey=antenatl/16784&source=see_link&anchor=H4#H4
American Academy of Pediatrics http://aappolicy.aappublications.org/cgi/content/full/pediatrics;107/2/442
Barss, V.A., Messerlian, G.M., & Canick, J.A. (2009). Overview of prenatal screening and diagnosis of Down syndrome. Accessed via UptoDate on January 31, 2011 from http://www.uptodate.com/online/content/topic.do?topicKey=antenatl/16784&source=see_link&anchor=H4#H4
Murray, J., Ryan-Krause, P. (2010). Obesity in Children with Down Syndrome: Background and Recommendations for Management Pediatric Nursing, 36(6):314-319. Accessed via Medscape on Feb. 2, 2011 from http://www.medscape.com/viewarticle/734672_4
The characteristics of hearing loss were illustrated by a study of 47 children with DS, two months to 3.5 years of age, evaluated by auditory brainstem response testing. Monitoring for this condition is important to preserve hearing.
In a Dutch study in children up to 14 years of age, the risk of type I diabetes is 3x greater in DS than in the general population
Height & weight are to be obtained since since the combination of slow of linear growth associated with weight gain is a sensitive indicator of hypothyroidism
The mechanism is thought to be because of alterations in mouth flora, with a higher frequency of Actinobacillus actinomycetemcomitans compared to controls Anticipate that the cooperation necessary for many orthodontic procedures may make them impractical in this population.
Van Cleve, S.N., and Cohen, W.I. (2006). Part I: Clinical Practice Guidelines With Down Syndrome From Birth to 12 Years. Journal of Pediatric Health Care, 20 (1):47-54 . Retrieved on January 31, 2011 from http://www.medscape.com/viewarticle/521906