James F. Bale

Sensorineural hearing loss in children

During the past three to four decades, the incidence of acquired sensorineural hearing loss (SNHL) in children living in more developed countries has fallen, as a result of improved neonatal care and the widespread implementation of immunisation programmes. The overall decrease has been accompanied by a relative increase in the proportion of inherited forms of SNHL. The contribution made by one gene in particular, GJB2, to the genetic load of SNHL has strongly affected the assessment and care of children with hearing loss. These changes in the incidence of SNHL have not been seen in children living in less developed countries, where the prevalence of consanguinity is high in many areas, and both genetic and acquired forms of SNHL are more common, particularly among children who live in poverty. Focused genetic counselling and health education might lead to a decrease in the prevalence of inherited SNHL in these countries. Establishment of vaccination programmes for several vaccine-preventable infectious diseases would reduce rates of acquired SNHL. Although the primary purpose of such programmes is the prevention of serious and in many cases fatal infections, a secondary benefit would be a reduction in disease-related complications such as SNHL that cause permanent disability in survivors.

Administration of oral acyclovir suppressive therapy after neonatal herpes simplex virus disease limited to the skin, eyes and mouth: Results of a phase I/II trial

BACKGROUND Neonatal herpes simplex virus (HSV) infections limited to the skin, eyes and mouth (SEM) can result in neurologic impairment. A direct correlation exists between the development of neurologic deficits and the frequency of cutaneous HSV recurrences. Thus, the National Institutes of Allergy and Infectious Diseases Collaborative Antiviral Study Group conducted a Phase I/II trial of oral acyclovir therapy for the suppression of cutaneous recurrences after SEM disease in 26 neonates. METHODS Infants < or = 1 month of age with virologically confirmed HSV-2 SEM disease were eligible for enrollment. Suppressive oral acyclovir therapy (300 mg/m2/dose given either twice daily or three times per day) was administered for 6 months. RESULTS Twelve (46%) of the 26 infants developed neutropenia (< 1000 cells/mm3) while receiving acyclovir. Thirteen (81%) of the 16 infants who received drug 3 times per day experienced no recurrences of skin lesions while receiving therapy. In comparison, a previous Collaborative Antiviral Study Group study found that only 54% of infants have no cutaneous recurrences in the 6 months after resolution of neonatal HSV disease if oral acyclovir suppressive therapy is not initiated. In one infant, HSV DNA was detected in the cerebrospinal fluid during a cutaneous recurrence, and an acyclovir-resistant HSV mutant was isolated from another patient during the course of the study. CONCLUSIONS Administration of oral acyclovir can prevent cutaneous recurrences of HSV after neonatal SEM disease. The effect of such therapy on neurologic outcome must be assessed in a larger, Phase III study. As such, additional investigation is necessary before routine use of suppressive therapy in this population can be recommended.

Paroxysmal kinesigenic dyskinesia and infantile convulsions: Clinical and linkage studies

Objective: To clinically characterize affected individuals in families with paroxysmal kinesigenic dyskinesia (PKD), examine the association with infantile convulsions, and confirm linkage to a pericentromeric chromosome 16 locus. Background: PKD is characterized by frequent, recurrent attacks of involuntary movement or posturing in response to sudden movement, stress, or excitement. Recently, an autosomal dominant PKD locus on chromosome 16 was identified. Methods: The authors studied 11 previously unreported families of diverse ethnic background with PKD with or without infantile convulsions and performed linkage analysis with markers spanning the chromosome 16 locus. Detailed clinical questionnaires and interviews were conducted with affected and unaffected family members. Results: Clinical characterization and sampling of 95 individuals in 11 families revealed 44 individuals with paroxysmal dyskinesia, infantile convulsions, or both. Infantile convulsions were surprisingly common, occurring in 9 of 11 families. In only two individuals did generalized seizures occur in later childhood or adulthood. The authors defined a 26-cM region using linkage data in 11 families (maximum lod score 6.63 at θ = 0). Affected individuals in one family showed no evidence for a shared haplotype in this region, implying locus heterogeneity. Conclusions: Identification and characterization of the PKD/infantile convulsions gene will provide new insight into the pathophysiology of this disorder, which spans the phenotypic spectrum between epilepsy and movement disorder.

Polymerase Chain Reaction Amplification of Herpes Simplex Viral Dna from the Geniculate Ganglion of a Patient with Bell's Palsy

Bells palsy is the most common cause of facial paralysis. In this study, we demonstrate the presence of herpes simplex viral type 1 (HSV-1) genomic DNA in the geniculate ganglion of a patient who had Bells palsy. This association suggests that in this patient, HSV-1 may have caused Bells palsy. If HSV-1 is a cause of Bells palsy, treatment with acyclovir may be beneficial. Additional studies should be done to establish the prevalence of HSV-1 as an etiologic agent of Bells palsy.

Cytomegalovirus reinfection in young children

OBJECTIVE To determine the frequency of reinfection with new cytomegalovirus (CMV) strains in children in group child-care environments. METHODS Ninety-two CMV strains isolated serially from children attending child care centers were analyzed. Strains were obtained from 1986 to 1994, from 37 children attending one of six centers in the area of Cedar Rapids and Iowa City, Iowa. The CMV isolates were analyzed by a polymerase chain reaction-based algorithm using primers for the a-sequence, glycoprotein B, and major immediate early (MIE) genes of human CMV. The a-sequence polymerase chain reaction products were compared on the basis of size, and products derived from glycoprotein B and MIE genes were compared according to restriction fragment length polymorphisms. RESULTS Children were between 8 months and 5 years 7 months of age at the time of CMV isolation. The number of isolates ranged from 2 to 6 per child, and the intervals between the first and last CMV isolation ranged from 11 weeks to more than 3 years. At least 7 (19%) of the 37 children had evidence of infection with more than one CMV strain. In six of these children, reinfection with distinct strains was confirmed by analysis of the MIE gene products of sequential CMV strains. CONCLUSIONS Children who attend child care centers, like adults who are immunosuppressed or have multiple sexual partners, are at risk of being reinfected with distinct CMV strains.

Intrauterine Cytomegalovirus Infection and Glycoprotein B Genotypes

Cytomegalovirus (CMV) strains display polymorphisms for the gene encoding glycoprotein B (gB; gpUL55). Recent data suggest that the gB genotype may influence the outcome of acquired CMV infections. To determine whether the gB genotype also contributes to the outcome of intrauterine infection, CMV strains were studied from 56 infants with culture-confirmed intrauterine CMV infections who were born in Iowa or Texas. CMV gB genotypes were compared with the neonatal clinical features and neurodevelopmental outcomes. Fifty-three strains (95%) could be assigned a gB genotype. The overall distribution of genotypes was as follows: type 1, 50%; type 2, 18%; type 3, 23%; and type 4, 4%. Strains with the gB 3 genotype were more common among the Iowa infants (P=.082). The gB 3 genotype was more common among infants with asymptomatic infections (P=.004), but geographic location and ascertainment biases may have accounted for these differences. The gB genotypes did not correlate with the neurodevelopmental outcome of intrauterine infection.

Neuroradiographic abnormalities in congenital cytomegalovirus infection.

To determine the spectrum of neuroradiographic abnormalities associated with congenital cytomegalovirus (CMV) infection, CT brain scans of 15 infants with symptomatic infection were reviewed. The initial CT scans were abnormal in 13 patients. Abnormalities included intracranial calcifications, cortical atrophy, ventricular enlargement, subdural effusions, porencephaly and polycystic encephalomalacia. Intracranial calcifications were present in 33% of the infants. In addition, three of the 15 infants developed progressive hydrocephalus which required ventriculoperitoneal shunt placement. These cases illustrate that congenital CMV infection causes a variety of structural CNS lesions and suggest that progressive hydrocephalus may be a relatively common consequence of symptomatic congenital CMV infection.

Development, implementation, and dissemination of the I-PASS handoff curriculum: A multisite educational intervention to improve patient handoffs

Patient handoffs are a key source of communication failures and adverse events in hospitals. Despite Accreditation Council for Graduate Medical Education requirements for residency training programs to provide formal handoff skills training and to monitor handoffs, well-established curricula and validated skills assessment tools are lacking. Developing a handoff curriculum is challenging because of the need for standardized processes and faculty development, cultural resistance to change, and diverse institution- and unit-level factors. In this article, the authors apply a logic model to describe the process they used from June 2010 to February 2014 to develop, implement, and disseminate an innovative, comprehensive handoff curriculum in pediatric residency training programs as a fundamental component of the multicenter Initiative for Innovation in Pediatric Education–Pediatric Research in Inpatient Settings Accelerating Safe Sign-outs (I-PASS) Study. They describe resources, activities, and outputs, and report preliminary learner outcomes using data from resident and faculty evaluations of the I-PASS Handoff Curriculum: 96% of residents and 97% of faculty agreed or strongly agreed that the curriculum promoted acquisition of relevant skills for patient care activities. They also share lessons learned that could be of value to others seeking to adopt a structured handoff curriculum or to develop large-scale curricular innovations that involve redesigning firmly established processes. These lessons include the importance of approaching curricular implementation as a transformational change effort, assembling a diverse team of junior and senior faculty to provide opportunities for mentoring and professional development, and linking the educational intervention with the direct measurement of patient outcomes.

Brain tumors occurring before 1 year of age: a retrospective reviews of 22 cases in an 11-year period (1977-1987).

Congenital brain tumors have been reported infrequently and their management remains ill defined. An 11-year review (1977-1987) of all children with brain tumors with the onset of symptoms before 1 year of age was completed. Twenty-two children with the following histological diagnoses were treated: astrocytoma (7 patients), primitive neuroectodermal tumor (6 patients), papilloma or carcinoma of the choroid plexus (3 patients), malignant teratoma (2 patients), dermoid tumor (2 patients), embryonal rhabdomyosarcoma (1 patient), and chloroma (1 patient). Fifteen tumors were supratentorial in location, and 7 were infratentorial. Initial symptoms were hydrocephalus (32%), focal neurological deficit (23%), asymptomatic increase in head circumference (18%), failure to thrive (14%), and seizures (4.5%). The goal of treatment was a radical excision when possible, with primary chemotherapy in the last 6 years of the review period. Radiation therapy was the adjunct to surgery in the initial 5-year period. All patients with papillomas of the choroid plexus and dermoid lesions underwent a total resection with no recurrence. All 7 astrocytomas were supratentorial, with 6 occurring in the diencephalon. Five of the seven patients with astrocytomas survived more than 5 years. The 6 primitive neuroectodermal tumors were located equally between the supra- and infratentorial spaces. Four of the 6 infants with these tumors received chemotherapy (2 received chemotherapy alone; 2 received chemotherapy and radiation therapy) and are tumor free 2 to 9 years later. A fifth child received radiation therapy alone early in the series and survived only 4 months. The family of the other child refused adjunctive treatment.(ABSTRACT TRUNCATED AT 250 WORDS)

Academy of Pediatric Education and Leadership: Preparing Leaders for Educational Innovation

Faculty development has been identified as a critical need if we hope to advance competency-based education. Despite the small number of participants at a single institution, the model presented here has the possibility for making a significant contribution to future faculty development initiatives for two reasons. First, by supporting the time of the scholars, the program makes a statement about the value of medical education and the recognition that it requires a skill set to become an educator. While the need for requisite skill sets has long been recognized for training sub-specialists, this has not been the case for those taking on major roles in education and training. Second, despite a rich literature, little has been published about the effects on the learners of those who participated in the faculty development programs. By supporting a cadre of individuals to acquire the skills needed to be an educator as well as the skills needed to perform educational research to study the impact of applying those skills, this project serves as a model for developing a much needed community of medical education leaders. Carol Carraccio, MD, MA