Pediatric Primary Care Case Studies (134 page)

It will also be important to continue to monitor Sandra’s mental health because most mothers do not see their obstetricians for 4–6 weeks postpartum. You encourage José to be at each visit and be involved with activities such as diaper changes, bathing, learning how to give any medications, and participating in feedings as able. You also discuss with José the importance of finishing his high school education and ask him whether he has considered college or vocational school as part of his future plans.

Above all, the healthcare provider must serve as an advocate for these young parents and assist them in not only raising a happy, healthy child, but also continuing their own growth to reach their full potential.

Key Points from the Case

1. Late-preterm infants are more at risk for potentially serious health problems than term infants and require special observations.

2. Hyperbilirubinemia is one of the most common causes of rehospitalization in the late-preterm infant population and needs to be identified early with appropriate management to prevent negative sequelae.

3. Teenage parents often have limited resources and thus need to be supported and encouraged by providing information and teaching from experts such as the nurse practitioner, the physician, physician assistant, and various members of the healthcare team.

4. Appropriate referrals should be made to assist the parents. Finding ways to include the family in planning care and providing education will be key in assuring success at home.

REFERENCES

American Academy of Pediatrics. (2004a). Clinical practice guideline: management of hyperbilirubinemia in the newborn infant 35 or more weeks of gestation. Subcommittee on Hyperbilirubinemia.
Pediatrics, 114
(1), 297–316.

American Academy of Pediatrics. (2004b). Policy statement: hospital stay for healthy term newborns. Committee on Fetus and Newborn.
Pediatrics, 113
(5), 1434–1436.

Association of Women’s Health, Obstetric and Neonatal Nurses. (2007).
Late preterm infant initiative.
Retrieved August 7, 2008, from
http://www.awhonn.org

Chen, X., Wen, S. W., Fleming, N., Demissie, K., Rhoads, G. G., & Walker, M. (2007). Teenage pregnancy and adverse birth outcomes: a large population based retrospective cohort study.
International Journal of Epidemiology, 36
(2), 368–373.

Davidoff, M. J., Dias, T., Damus, K., Russell, R., Bettegowda, V. R., Dolan, S., et al. (2006). Changes in the gestational age distribution among U.S. singleton births: impact on rates of late preterm birth, 1992–2002.
Seminars in Perinatology, 30
, 8–15.

Engle, W. A., Tomashek, K. M., & Wallman, C. (2007). “Late-preterm” infants: a population at risk.
Pediatrics, 120
(6), 1390–1401.

Gaynes, B. N., Gavin, M., Meltzer-Brody, S., Lohr, K. N., Swinson, T., Gartlehner, G., et al. (2005).
Perinatal depression: prevalence, screening accuracy, and screening outcomes.
Evidence Report/Technology Assessment No. 119. (Prepared by the RTI-University of North Carolina Evidence-Based Practice Center, under Contract No. 290-02-0016. AHRQ Publication No. 05-E006-2.) Rockville, MD: Agency for Healthcare Research and Quality.

Hamilton, B. E., Martin, J. A., & Ventura, S. J. (2009). Births: preliminary data for 2007.
National Vital Statistics Reports, 57
(12), 1–23.

Hanna, B. (2001). Negotiating motherhood: the struggles of teenage mothers.
Journal of Advanced Nursing, 34
(4), 456–464.

Mancini, F., Carlson, C., & Albers, L. (2007). Use of the postpartum depression screening scale in a collaborative practice.
Journal of Midwifery and Women’s
Health, 52
(5), 420–434.

Moerschel, S. K., Cianciaruso, L. B., & Tracy, L. R. (2008). A practical approach to neonatal jaundice.
American Family Physician, 77
(9), 1255–1263.

Polin, R. A., & Spitzer, A. R. (2001).
Fetal and neonatal secrets.
Philadelphia: Hanley & Belfus.

Raju, T. N. K., Higgins, R. D., Stark, A. R., & Leveno, K. J. (2006). Optimizing care and outcomes for late-preterm (near-term) infants: a summary of the workshop sponsored by the National Institute of Child Health and Human Development.
Pediatrics, 118
(3), 1207–1214.

Ramanathan, R., Corwin, M. J., Hunt, C. E., Lister, G., Tinsley, L. R., Baird, T., et al. (2001). Cardiorespiratory events recorded on home monitors: comparison of healthy infants with those at increased risk for SIDS.
Journal of the American
Medical Association, 285
, 2199–2207.

Trofatter, K. F. (2006).
Late preterm birth–AGAIN.
Retrieved August 7, 2008, from
http://www.healthline.com

Wang, M. L., Dorer, D. J., Fleming, M. P., & Catlin, E. A. (2004). Clinical outcomes of near-term infants.
Pediatrics, 114
, 1341–1347.

Whooley, M. A., Avins, A. L., Miranda, J., & Browner, W. S. (1997). Case-finding instruments for depression: Two questions are as good as many.
Journal of
General Internal Medicine, 12
, 439–445.

Chapter 34

A Child with Short Stature

George Anadiotis

It is not uncommon in medicine to discover a child presenting with one problem that leads to a variety of other concerns and eventually to the underlying etiology. The importance of tying together the physical findings with the history for the patient cannot be overestimated and is essential to achieving a diagnosis and an effective follow-up treatment plan. Identifying the child who is apparently well but short and then moving forward to the issue of a genetic cause with a host of other potential health problems is not an easy step for the healthcare provider, family, and child. However, the outcomes can be very satisfying when the child is on a path towards a more healthy future.

Educational Objectives

1.   Identify possible causes of short stature in young girls.

2.   Discuss the types of treatment options available.

3.   Understand appropriate referral patterns for further treatment.

4.   Clarify the role of the primary care provider caring for a child with a genetic condition.

   Case Presentation and Discussion

Jane Murphy is a 10-year-old girl who is brought to you by her mother because of concern regarding her height. Upon evaluation, you note that her height is 120 centimeters (48 inches; < fifth percentile) with a weight of 30 kilograms (68.2 pounds; < fifth percentile) and a head circumference of 51 centimeters (20 inches; within normal limits for age 10 years). You talk with Jane’s mother about her concerns.

Further discussion with Mrs. Murphy reveals that Jane has occasional visits to a urologist because she was born with a horseshoe kidney, and that she has a heart murmur that was described as innocent. She states that Jane does well in school although she has some social issues including difficulty interacting with other children her age; Jane prefers to play with younger children.

When you ask Jane how she feels regarding her height, she becomes somewhat tearful and tells you that she is the shortest girl in her class and the other girls are growing very rapidly. She often gets teased for being so small. Sometimes when she is out with her friends, other individuals think that she is a younger sister of her friends. At this point,
Jane’s mother adds that this has become a more pressing concern for Jane; she has been voicing more frequently how much it bothers her to be small.

Her physical examination reveals a child who appears to be in good health. She has some soft physical findings such as some minimal swelling in her hands and feet, which Mrs. Murphy states has been there since infancy. She has a small chin with a low posterior hairline and posteriorly rotated ears. The rest of her examination does not reveal any health problems. You hear a grade I/VI heart murmur today. You did the head circumference because you were interested in whether she was in proportion or had either macro-cephaly or microcephaly. Her head circumference was within normal limits. Head circumference tables are available for older children as well as infants.

What questions are going through your mind at this point?

Within this very brief visit, you should have a variety of questions arising for you as the primary care provider. Questions to consider regarding Jane’s findings include:

•   How long has Jane been below the fifth percentile on the growth curve?

•   Although we know Jane appears to have some social interaction issues, has she ever been assessed for any type of learning disorder?

•   Has Jane ever been evaluated by cardiology regarding her murmur?

•   Has Jane shown any evidence of starting puberty?

•   Has anyone in the family been evaluated for late growth spurts or short stature?

•   Have the renal issues been fully evaluated, and can the urologist provide any other information that may be useful?

•   Are there any options available for this 10-year-old to increase her growth velocity and final height?

Short Stature

The history and physical examination of this child appear to be consistent with a genetic syndrome, most likely Turner syndrome. The combination of the physical findings such as rotated ears, low posterior hairline, micrognathia, renal abnormalities, and short stature are classic for Turner syndrome. However, there are other genetic causes of short stature that can present somewhat similarly, and they must be ruled out.

The differential of short stature can be quite large. The most common causes are 1) familial short stature in which individuals have normal growth below the fifth percentile with no skeletal delay and normal onset of puberty, and 2) constitutional short stature with normal growth velocity but delayed skeletal maturity. An in-depth family history as well as radiologic studies are necessary to diagnose these types. Other causes include a variety of endocrine abnormalities such as growth hormone deficiency. Chromosomal anomalies such as Turner or Noonan syndrome must also be considered. In this case, the physical features suggest a syndromic cause.

Turner Syndrome

Pathophysiology

Due to the loss of one X chromosome, approximately 50% of individuals with Turner syndrome will show a 45, X karyotype in a phenotypic female. However, this classic chromosomal finding is not the only karyotype that can result in the physical features of Turner syndrome. Mosaicism is fairly common in Turner syndrome. This term indicates the presence of two cell lines in a single individual. Individuals with mosaic cell lines such as 45, X with 46, XX or 46, XY or 47, XXX can all be placed under the Turner syndrome category. Mosaicism with a 46, XX usually results in individuals with a much milder phenotype of Turner features than the classic 45, X individuals.

Clinical Findings

Although Turner syndrome can be diagnosed prenatally or in infancy— especially if a child is born with features such as lymphedema, webbed neck, or cardiac and renal anomalies—many individuals with Turner syndrome are diagnosed later in childhood when they present with short stature but without the other classical physical findings. Common clinical findings are found in
Table 34-1
. Intelligence in these individuals is normal, but a variety of issues are related to learning disabilities, particularly with mathematics, memory, spatial perception, or visual motor integration as well as issues associated with immaturity, hyperactivity, anxiety, low self-esteem, or even depression (Bondy, 2007; McCauley, Ross, Kushner, & Cutler, 1995; Tyler & Edman, 2004). The psychosocial concerns raised by both Jane and her mother are often the driving factors bringing these children in. They are concerned about being the smallest in the class, especially when other children begin to make fun of them.