The Clinical Predictors That Facilitate a Clinician's Decision to Order Genetic Testing for Rett Syndrome.

BACKGROUND: Rett syndrome is a common genetic cause of intellectual disability in girls caused by a mutation in the MECP2 gene. Diagnosis is based on clinical criteria. The aim was to compare the frequencies of the clinical criteria in patients with and without MECP2 mutations. METHODS: We performed a retrospective review at a children's hospital of patients who underwent MECP2 testing from 2008 to 2013. Logistic regression was performed to determine which criteria were most predictive of MECP2 status. RESULTS: Of 169 patients who met inclusion criteria, 46 (27.2%) were MECP2 positive. Loss of language skills (MECP2+ 100% versus MECP2- 87.8%; P = 0.012) was the most common finding among both groups. Other main criteria were more common in MECP2 patients: gait abnormalities (84.8% versus 27.6%; P < 0.0001); stereotypic hand movements (76.1% versus 15.5%; P < 0.0001); loss of hand skills (71.7% versus 4.9%; P < 0.0001). Logistic regression analysis including all four criteria demonstrated language loss was not predictive. CONCLUSIONS: Loss of hand skills resulted in the highest odds of having a positive genetic test. Gait abnormalities and stereotypic hand movements were also strong predictors of MECP2+ testing. Many individuals with language delay had genetic testing; however, this is the least specific of the major criteria. These findings have implications for which patients should have genetic testing.

Necessity of routine pelvic radiograph in the pediatric blunt trauma patient.

BACKGROUND: Pelvic radiographs are obtained frequently in pediatric blunt trauma. The authors hypothesize that there are clinical indicators that can predict pelvic fracture on a pelvic radiograph in the pediatric blunt trauma patient with a Glasgow Coma Scale score of 14 or 15. METHODS: A retrospective case-control study of 33 patients with pelvic fractures and 63 patients without pelvic fractures was performed. RESULTS: 8 evaluated clinical indicators showed that pelvic contusions and abrasions (P = .026), hip/pelvic pain (P<.001), abdominal pain and distension (P = .006), back pain (P = .080), hip held in rotation at presentation (P = .026), and femur deformity/pain (P = .002) were independently predictive of pelvic fracture. In combination, absence of hip/pelvic pain, pelvic contusions and abrasions, abdominal pain/distension, and femur deformity/pain showed a negative predictive value of 87%. CONCLUSION: Clinical indicators may be useful in determining the need for pelvic radiographs in awake and alert pediatric blunt trauma patients.

The health-related quality of life of children with an extremity fracture: a one-year follow-up study.

PURPOSE: To document the health-related quality of life (HRQOL) of children with an extremity fracture at 3 and 12 months postinjury and to determine whether it varies significantly by fracture region and site. METHODS: Children hospitalized for an extremity fracture at 4 pediatric trauma centers were studied. A baseline, 3-month, and 12-month telephone interview were completed by a primary caregiver to measure the child's HRQOL using the Pediatric Quality of Life Inventory (PedsQL). HRQOL was modeled as a function of injury, patient, and family characteristics using a longitudinal regression model. RESULT: Of the 100 children enrolled, 52 sustained a lower extremity fracture (LEF) and 48 an upper extremity fracture (UEF). Postinjury HRQOL scores were significantly poorer than preinjury scores for all subjects (P = 0.05). In addition, a significant proportion of subjects reported impaired physical and psychosocial HRQOL at 3 (44% and 46%, respectively) and 12 months (23% and 33%, respectively) postinjury. At 3 months postinjury, children with an LEF had significantly poorer HRQOL outcomes compared to children with a UEF. By 12 months postinjury, the physical function of children with a tibia and/or fibula fracture remained significantly lower than children with a UEF (P < or = 0.05). CONCLUSIONS: Children hospitalized for an extremity fracture suffered dramatic declines in physical and psychosocial well-being during the first 3 months postinjury. By 1 year postinjury, most children recovered; however, children with a tibia and/or fibula fracture still reported significantly poorer physical functioning.

The multi-institutional validation of the new screening index for physical child abuse.

BACKGROUND/PURPOSE: There is currently no evidence-based screening instrument to assist in the detection of physical child abuse patients. The screening index for physical child abuse (SIPCA) was previously developed as a potentially new tool for this need. It is a scale that assigns point values, on the basis of variable weights from logistic regression models, to age and patterns of injuries (including fracture of base or vault of skull, contusion of eye, rib fracture, intracranial bleeding, multiple burns), with higher scores indicating greater suspicion for abuse. The purpose of this study is to validate this new tool in another independent data set. METHODS: A cross-sectional hospital discharge database from 1961 hospitals in 17 states is used (n = 58558). Children aged 14 years or younger with International Classification of Diseases, Ninth Revision, Clinical Modification codes 800 to 959 are included for analysis. Child abuse cases are identified by E codes and certain International Classification of Diseases, Ninth Revision, Clinical Modification codes in the 995.5x range. Screening index for physical child abuse performance is evaluated by discrimination (receiver operating characteristic) and goodness of fit (pseudo r2). RESULTS: A total of 447 abused patients (0.76%) was identified. The receiver operating characteristic of SIPCA in this data set is 0.89 as compared with 0.86 in the development data set. The pseudo r 2 of SIPCA in this data set is 0.26 as compared with 0.28 in the development data set. A SIPCA score of 3 has a sensitivity of 86.6% and a specificity of 80.5% for detecting physical abuse; raising the threshold to a score of 4 improves the specificity to 93.1% but at a loss of sensitivity to 71.8%. CONCLUSIONS: The validity of the new SIPCA instrument is supported by its performance in an independently derived data set. A score of 3 on SIPCA represents a balanced trade off in the sensitivity and specificity of the instrument in detecting physical abuse and is an optimal threshold above which to begin considering abuse in differential diagnosis. Application of the instrument could assist clinicians in detecting physical child abuse cases among pediatric trauma patients.

The tip of the iceberg for child abuse: the critical roles of the pediatric trauma service and its registry.

BACKGROUND: The incidence of child abuse is approximately 10% of all children presenting to an emergency department (ED), with a mortality rate less than 1%. By contrast, the characteristics of the subset of abused children presenting to a pediatric trauma service (PTS) is not well defined. METHODS: This study was a retrospective evaluation of prospectively collected information from an urban Level I pediatric trauma registry from 1990 to 2002 (n = 11,919). Child abuse cases and their perpetrators were identified by E-codes. Patterns of injuries were examined by integer International Classification of Diseases, Ninth Revision codes, and diagnostic model was evaluated by discrimination and goodness-of-fit. RESULTS: A total of 171 cases of child abuse (1.4%) were identified, and the majority were boys (59%, p > 0.05 vs. nonabuse cases). The median age of the abused cohort was younger than 1 year old, and the number of abuse cases did not differ over time (mean, 11 per year.) Abused children present with a higher median Injury Severity Score (10 vs. 4, p < 0.01), more severe injuries of the head and integument, longer hospital lengths of stay (4 vs. 1 day, p < 0.01), and a higher mortality rate (12% vs. 2%, p < 0.01). The following variables emerged with significant association to abuse: fracture of base or vault of skull, contusion of eye, rib fracture, intracranial bleeding, multiple burns, and age. A new Diagnostic Index for Physical Child Abuse was created. CONCLUSION: Significant characteristics of the abused children in this pediatric trauma service include higher Injury Severity Score (especially in the head and integument), requirement for longer lengths of stay, and a nearly 10-times higher risk of death compared with the ED population. The Diagnostic Index for Physical Child Abuse is proposed as a new tool to assist in the identification of child abuse among pediatric trauma patients. An epidemiologic triangle for child abuse is described, with different prevalence and severity of child abuse seen at different levels of our health care system, starting with primary care providers, followed by the ED, the PTS, and ultimately the medical examiners. The number of cases decreases from the bottom to the top of the health care system, but the mortality rate increases as abuse escalates through the triangle. This establishes the PTS as possibly the final gatekeeper before an abused case becomes a fatality. These data emphasize the need for rigorous registry evaluation and subsequent evidence-based prevention initiatives.

High-grade renal injuries in children--is conservative management possible?

OBJECTIVES: To review our experience with the management of high-grade (grade IV and V) renal injuries to clarify the role of conservative management. METHODS: From 1991 to 2003, 79 consecutive patients (age range 2 to 14 years) with renal injuries were treated in an urban level I pediatric trauma center. Twenty children were identified as having high-grade renal injury (grade IV, 10 children and grade V, 10 children). The mechanism of injury was blunt trauma in 17 patients (85%) and penetrating trauma in 3 (15%). RESULTS: Of the 10 patients with grade IV injury, 8 (80%) were successfully treated conservatively with bedrest and catheter drainage. Two patients with persistent urine leaks required ureteral stenting, and one subsequently required open operative repair. The initial radiographic findings in both patients demonstrated complete renal fracture with retained vasculature to both renal segments. All 10 patients with grade V injury required open operative management and only 3 (30%) achieved long-term renal salvage. CONCLUSIONS: Most children with grade IV renal injury can be treated conservatively. Patients with complete renal fracture or significant urinary extravasation on initial radiographic imaging may be less likely to undergo spontaneous resolution. Patients with a persistent urinary leak can be successfully treated with internal drainage. Grade V injuries are associated with an increased risk of requiring open operative intervention, and the renal preservation rates are low.

Spinal injuries in children.

BACKGROUND/PURPOSE: Traumatic spinal injury (TSI) is an uncommon source of morbidity and mortality in children. The aim of this study was to describe childhood TSI in a single level 1 urban pediatric trauma center. METHODS: The authors retrospectively analyzed all children younger than 14 years with TSI, treated at a level I pediatric trauma center between 1991 and 2002 (n = 406, 4% total registry). All children were stratified according to demographics, mechanisms, type and level of injury, radiologic evaluations, associated injuries, and mortality. RESULTS: The mean age was 9.48 +/- 3.81 years. The most common overall mechanism of injury was motor vehicle crash (MVC; 29%) and ranked highest for infants. Falls ranked highest for ages 2 to 9 years. Sports ranked highest in the 10 to 14 year age group. Paravertebral soft tissue injuries were 68%. The most common injury level was the high cervical spine (O-C4). The incidence of spinal cord injury without radiologic abnormality (SCIWORA) was 6%. Traumatic brain injury (37%) was the most common associated injury. Overall mortality rate was 4% in this urban catchment. CONCLUSIONS: TSI in children requires a different preventive and therapeutic logarithm compared with that of adults. The potential devastating nature of TSI warrants that the health care team always maintains a high index of suspicion for injury. Future prospective studies are needed to further elucidate injury patterns.