Maria N. Kelly

Symptomatic Atlantoaxial Instability in an Adolescent with Trisomy 21 (Down’s syndrome)

Atlantoaxial instability (AAI) occurs in 15% of children with Trisomy 21. Health supervision guidelines were revised by the American Academy of Pediatrics in 2011 to reflect advances in care for children with special health care needs (CSHCN). Previous guidelines recommended cervical spine radiological screenings in preschool years to evaluate for atlantoaxial instability. For patients with negative screening, re-screening was recommended if they wished to compete in the Special Olympics, or became symptomatic. We present the case of an adolescent who developed a symptomatic atlantoaxial dislocation despite previous negative radiological screening at the age three (under the 2001 guidelines). This case report highlights the revisions in the 2011 guidelines for health supervision and anticipatory guidance. It underlines the need for a high index of suspicion if symptoms develop. It also addresses the need for a medical home for CSHCN, with health care providers who know the child’s baseline health status.

Pediatric Residents' Learning Styles and Temperaments and Their Relationships to Standardized Test Scores

BACKGROUND Board certification is an important professional qualification and a prerequisite for credentialing, and the Accreditation Council for Graduate Medical Education (ACGME) assesses board certification rates as a component of residency program effectiveness. To date, research has shown that preresidency measures, including National Board of Medical Examiners scores, Alpha Omega Alpha Honor Medical Society membership, or medical school grades poorly predict postresidency board examination scores. However, learning styles and temperament have been identified as factors that 5 affect test-taking performance. The purpose of this study is to characterize the learning styles and temperaments of pediatric residents and to evaluate their relationships to yearly in-service and postresidency board examination scores. METHODS This cross-sectional study analyzed the learning styles and temperaments of current and past pediatric residents by administration of 3 validated tools: the Kolb Learning Style Inventory, the Keirsey Temperament Sorter, and the Felder-Silverman Learning Style test. These results were compared with known, normative, general and medical population data and evaluated for correlation to in-service examination and postresidency board examination scores. RESULTS The predominant learning style for pediatric residents was converging 44% (33 of 75 residents) and the predominant temperament was guardian 61% (34 of 56 residents). The learning style and temperament distribution of the residents was significantly different from published population data (P  =  .002 and .04, respectively). Learning styles, with one exception, were found to be unrelated to standardized test scores. CONCLUSIONS The predominant learning style and temperament of pediatric residents is significantly different than that of the populations of general and medical trainees. However, learning styles and temperament do not predict outcomes on standardized in-service and board examinations in pediatric residents.

Newborn with an absent red reflex.

www.jpedhc.org CASE PRESENTATION A 2-week-old female infant presented to the pediatric primary care office with her mother for a routine wellbaby check. The mother had no concerns other than routine questions about growth, developmental milestones, and feeding. The infant was born full-term via normal, spontaneous vaginal delivery. Neither the mother nor the baby had any antenatal or perinatal complications. The mother s prenatal serologies were unremarkable, and she was rubella immune. The parents said that no problems were noted when the infant was examined after birth. Hospital records were not available for review. The family history did not include any eye problems.

Newborn Female With a Midline Perineal Defect

Our patient presented at birth with this perineal defect. The mother’s antenatal history was significant only for mild anemia due to thalassemia minor but otherwise was uneventful. There was no history of smoking and alcohol and substance abuse during the pregnancy, and all her serologies were negative and the pregnancy course unremarkable. This was the parents’ first child and there was no family history of any congenital anomalies on either side of the family. Both parents are of Indian descent. The father is a physician who also has no significant past medical history. She was born at 39 weeks of gestation via spontaneous vaginal delivery and was appropriate for gestational age with regard to weight (weight 3070 g), length, and head circumference at birth. Following birth, the infant was noted to have midline perineal fusion defect between the vaginal opening and the anus. The infant also had an anteriorly placed anus (Figure 1). The remainder of the physical examination was within normal limits. The infant was discharged from the nursery on day of life 2 as the remainder of her newborn course was uneventful. The infant was evaluated in clinic 1 day following discharge from the newborn nursery for a routine well baby check. Since birth she was stooling normally. She had passed meconium on day of life 1, and her stools were starting to become transitional in color and consistency. Her physical examination was significant for the same perineal defect described above in conjunction with an anteriorly placed anus. The examination of her spine was normal without any hair tufts, dimples, or skin pigmentation, and the strength of her lower limbs was found to be normal. Her anus, although anteriorly placed by approximately 1 cm, had an anal opening of normal caliber. There was no evidence fecal soiling, stool in the vaginal opening, or other evidence to suggest fistulas or urinary tract abnormalities. The remainder of her external genitalia was normal. The perineal defect itself was noted to be a midline; moist red sulcus noted extending approximately 3 cm from the base of vaginal fourchette to the anterior rim of anus at the 12 o’clock position with minimal vaginal whitish mucus discharge (Figure 2). There were no signs of bleeding or infection noted in the genital area. The groove itself was noted at an area where a perineal raphe would be found in a normal child. Because of its physical appearance, lack of communicating fistula, and normal stooling pattern, the defect was concluded to be a “perineal groove.”

Brothers with Smith-Lemli-Opitz syndrome.

Abnormal cholesterol metabolism is the cause of SLOS, with low cholesterol levels and elevated levels of cholesterol precursors thought to contribute to the clinical findings in this syndrome. Management of SLOS involves early intervention with appropriate therapies for identified disabilities, genetic counseling for families, nutritional consultations, educational interventions, and behavioral management. Although no randomized dietary studies have been conducted, cholesterol supplementation continues to be a common recommendation for persons with SLOS, because it may result in clinical improvement and has few adverse effects (Nowaczyk, 2013). Even with early detection and treatment (e.g., sibling B in this case report), persons with SLOS often have significant behavioral issues and cognitive and developmental delays that require a team approach by parents, educators, specialists, and primary care providers.

A 6-year-old with acute-onset generalized lymphadenopathy.

www.jpedhc.org CASE PRESENTATION A 6-year-old previously healthy African American boy was evaluated in an acute care clinic with a 3-day history of fever up to 39 C (102 F). His mother had given him acetaminophen to help with the fevers. He also reported having pain in his left ear and decreased appetite for the past few days. He denied having any congestion, cough, sore throat, or rhinorrhea. Although he had a decreased appetite, he continued to drink fluids and was urinating normally. The remainder of his review of systems was unremarkable. His initial examination was significant for fever (38.9 C), a left tympanic membrane with erythema, pus, and decreased mobility, and multiple scattered 0.5to 1-cm, discrete, nontender, mobile cervical lymph nodes on both sides. The remainder of his examination was unremarkable. A diagnosis of left acute otitis media was made, and he was given a prescription for amoxicillin, 80 mg/kg for 10 days. He subsequently defervesced after 48 hours of taking antibiotics, and his mother noted he was no longer complaining of ear pain. He continued to do well until day 5 of antibiotic treatment, when he became increasingly more tired and was noted to be sleeping throughout the day. By day 7 of treatment, his mother began to appreciate some neck swelling on both lateral sides of his neck. By the last day of treatment, a fever again developed andhewas brought back to the clinic by his parents for a re-evaluation. During his second examination, he had a temperature of 38.3 C (100.9 F), a pulse rate of 92 beats per minute, and a respiratory rate of 18 breaths per minute. His weight was unchanged. He appeared tired but was interactive with the examiner. His posterior pharynx was erythematous with 3+ tonsillar enlargement but with no exudates. His tympanic membranes were dull, not injected, but with reduced mobility on

Putting a finger on the problem: Finger stick blood draw and immunization at the well-child exam elicit a cortisol response to stress among one-year-old children

Research examining stress reactivity of the hypothalamic-pituitary-adrenocortical (HPA) axis in young children has historically been hampered by a lack of reliable methods to invoke a cortisol stress response. This report details an effective method of eliciting a cortisol rise in one-year-old children (N = 83) by modifying and combining two naturalistic stressors previously used with infants and children. Salivary cortisol levels were collected from children before and after a finger stick blood draw and immunizations performed during their one year well-child checkup at their pediatricians office. Results indicated that the stressor was successful at eliciting a significant cortisol response. An extensive set of potential demographic and clinical confounds were also assessed in order to identify methodological considerations important in studies of infant cortisol. The stress paradigm presented here provides a promising alternative for studies of infant HPA activity to enable investigators to more effectively evaluate early functioning of the biological stress system during this developmentally important life stage.

Rectal Bleeding and Abdominal Pain Following Vaccination in a 4-Month-Old Infant

Intussusception is one of the most frequent causes of intestinal obstruction in infants. Rotavirus vaccination has been associated with intussusception in the medical literature. We report a case of a 4-month-old female with intussusception requiring hemicolectomy one week following rotavirus vaccination. We review the pathophysiology, presentation, and management of intussusception with a distinct focus on the history of rotavirus vaccination and risks of intussusception associated with timing of rotavirus vaccine administration. The discussion makes a strong case for rotavirus vaccine counseling regarding signs of intestinal obstruction and the importance of early recognition.

Transition to Pediatric Practice: A Residency Elective Experience to Prepare Senior Pediatric Residents for General Pediatric Primary Care

Introduction Transition to practice (TTP), while impactful in other specialties, has been minimally studied and rarely offered in pediatric training residency programs. This pediatric TTP elective is designed to provide a glimpse into the world of a primary care pediatrician to residents who are interested in pursuing a career in primary care. Methods During this elective residents hone their outpatient diagnostic skills by participating in a variety of clinical patient encounters; this is supplemented with selectives, learner-chosen supplemental educational activities that aim to help fulfill a residents self-identified learning goals. This TTP experience was developed for third-year pediatric residents who are planning on entering primary care. The course is organized and facilitated by a general pediatric faculty member with an administrative assistant. Results This TTP elective was evaluated highly by pediatric residents; the overall score of its effectiveness, rated by residents who participated in the elective, was 4.5–5.0 out of 5.0. Following completion of this TTP elective, residents demonstrated an overall improvement in outpatient procedural opportunities and self-reported competence for routine outpatient procedures. In addition, residents demonstrated an overall improvement in office-visit billing practices. Discussion The 4-week rotation format maximizes the number of general pediatric outpatient clinical experiences and individualized learning selectives.

Newborn Infant With Epidermolysis Bullosa and Ankyloglossia

A White male newborn was transferred to our university-based children’s hospital within hours of his birth for evaluation andmanagement of skin sloughing and blistering over several areas of his body. A skin biopsy demonstrated subepidermal blisters with no inflammation. Immunomapping suggested the dystrophic form of epidermolysis bullosa (EB). Genetic testing revealed two mutations on the collagen type VII alpha 1 (COL7A1) gene that had not been reported previously in association with EB. This case illustrates the importance and utility of genetic testing to distinguish between general types of EB and subtypes. This