Facilitators and barriers to the successful implementation of a protocol to detect child abuse based on parental characteristics.

To determine the critical facilitating and impeding factors underlying successful implementation of a method to detect child abuse based on parental rather than child characteristics known as the Hague Protocol. The original implementation region of the protocol (The Hague) was compared to a new implementation region (Friesland), using analysis of referrals, focus group interviews (n=6) at the Emergency departments (ED) and at the Reporting Centers for Child abuse and Neglect (RCCAN) as well as questionnaires (n=76) at the EDs. Implementation of the Hague Protocol substantially increased the number of referrals to the RCCAN in both regions. In Friesland, the new implementation region, the number of referrals increased from 2 out of 92,464 patients (three per 100,000) to 108 out of 167,037 patients (62 per 100,000). However in Friesland, child abuse was confirmed in a substantially lower percentage of cases relative to the initial implementation region (62% vs. 91%, respectively). Follow-up analyses suggest that this lower positive predictive value may be due to the lack of training for RCCAN professionals concerning the Hague Protocol. The focus group interviews and questionnaires point to time limitations as the main impediment for implementation, whereas an implementation coach has been mentioned as the most important facilitating factor for success. The Hague Protocol can be used to detect child abuse beyond the initial implementation region. However, training is essential in order to assure a consistent evaluation by the RCCAN.

A new protocol for screening adults presenting with their own medical problems at the Emergency Department to identify children at high risk for maltreatment.

Identifying child abuse and neglect solely on the grounds of child characteristics leaves many children undetected. We developed a new approach (Hague protocol) based on characteristics of parents who attend the Emergency Department (ED) because they have the following problems: (1) intimate partner violence, (2) substance abuse, or (3) suicide attempt or other serious psychiatric problems. The goal of this protocol is to enable the Reporting Center for Child Abuse and Neglect (RCCAN) to rapidly assess family problems and offer voluntary community based support to these parents. The aim of this study is to assess whether this protocol for screening adults presenting for care in the Emergency Department can identify children at high risk for maltreatment. A before and after study was conducted at 9 EDs in 3 regions in the Netherlands (one intervention region and 2 control regions). During the period January 2006 to November 2007, prior to the introduction of the Hague protocol, from a total of 385,626 patients attending the ED in the intervention region 4 parents (1 per 100,000) were referred to the RCCAN. In the period after introduction of the protocol (December 2007 to December 2011), the number rose to 565 parents from a total of 885,301 patients attending the ED (64 per 100,000). In the control region, where the protocol was not implemented, these figures were 2 per 163,628 (1 per 100,000) and 10 per 371,616 (3 per 100,000) respectively (OR=28.0 (95 CI 4.6-170.7)). At assessment, child abuse was confirmed in 91% of referred cases. The protocol has a high positive predictive value of 91% and can substantially increase the detection rate of child abuse in an ED setting. Parental characteristics are strong predictors of child abuse. Implementing guidelines to detect child abuse based on parental characteristics of parents attending the adult section of the ED can increase the detection rate of child abuse and neglect allowing appropriate aid to be initiated for these families.

Screening for refractive errors in children: the plusoptiX S08 and the Retinomax K-plus2 performed by a lay screener compared to cycloplegic retinoscopy.

PURPOSE: To evaluate the performance of the autorefractor Retinomax K-plus2 and the photoscreener plusoptiX S08 in measuring refractive errors by comparing them with cycloplegic retinoscopy (CR) and to assess limitations associated with their use. METHODS: Cross-sectional study to compare data from CR, performed by an orthoptist, to data from Retinomax K-plus2 and plusoptiX S08 performed by a lay screener. Sensitivity and specificity for the detection of significant refractive errors were determined according to American Academy of Pediatric Ophthalmology and Strabismus criteria. RESULTS: Two hundred children were included, with a mean age of 5.2 ± 2.6 years (3 months to 11 years). Compared to CR, the plusoptiX S08 showed a mean difference of -1.13 ± 1.25 D (95% limits of agreement [LOA], -3.59 to +1.32) for spherical equivalent (SE) and -0.23 ± 0.53 D (LOA, -1.28 to +0.81) for the cylinder. Mean difference for the Retinomax K-plus2 before cycloplegia was -0.08 ± 0.58 D (LOA, -1.23 to +1.06) for SE and 0.03 ± 0.38 D (LOA, -0.72 to +0.78) for the cylinder; after cycloplegia -2.11 ± 1.64 D (LOA, -5.33 to +1.10) for SE and -0.06 ± 0.47 D (LOA, -0.98 to +0.86) for the cylinder. Sensitivity for detecting hyperopia >3.5 D with the plusoptiX S08 was 33.3%, the Retinomax before cycloplegia 31.0% and after cycloplegia 84.6% and high for detecting myopia, astigmatism, and anisometropia. CONCLUSIONS: Retinomax K-plus2 and plusoptiX S08 have high sensitivity for the detection of myopia, astigmatism, and anisometropia compared to cycloplegic retinoscopy; however, when used without cycloplegia, hyperopia is underestimated.

Serious complications of pulmonary biopsy in a boy with chylopericardium and suspected pulmonary lymphangiomatosis.

Lymphangiomatosis is a rare disorder. It is commonly localised in the skeletal system and called Gorham's disease, and in thoracic or abdominal organs. Involvement of the pericardium is rare and has been described in less than 20 patients worldwide. The case of a 14-year-old boy presenting with asymptomatic chylopericardium and interstitial lung disease is presented. After lung biopsy, performed to confirm the diagnosis of pulmonary lymphangiomatosis, he developed chylothorax and massive loss of chyle via chest drains. Thoracic duct ligation did not result in clinical improvement. Treatment with interferon α2b was given and because of clinical deterioration radiotherapy was added to the treatment. This resulted in a rapid decrease of chyle production in the patient.

Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations.

Craniosynostosis, the premature fusion of one or more cranial sutures, is a developmental defect that disrupts the cranial morphogenetic program, leading to variable dysmorphic craniofacial features and associated functional abnormalities. Craniosynostosis is frequently observed as an associated feature in a number of clinically and genetically heterogeneous syndromic conditions, including a group of disorders caused by activating mutations in genes coding for the fibroblast growth factor receptor family members FGFR1, FGFR2, and FGFR3. In these disorders, dysregulation of intracellular signaling promoted by the aberrant FGFR function is mediated, at least in part, by the RAS-MAPK transduction pathway. Mutations in KRAS, HRAS, and other genes coding for proteins participating in this signaling cascade have recently been identified as underlying Noonan syndrome (NS) and related disorders. While cardinal features of these syndromes include distinctive dysmorphic facial features, reduced growth, congenital heart defects, and variable ectodermal anomalies and cognitive impairment, craniosynostosis is not a recognized feature. Here, we report on the occurrence of premature closure of cranial sutures in subjects with NS, and their specific association with mutations in the KRAS gene. These findings highlight the pathogenetic significance of aberrant signaling mediated by the RAS signaling pathway in other known forms of craniosynostosis, and suggest that, even in the absence of radiologically demonstrable synostosis of the calvarian sutures, dysregulated growth and/or suture closure at specific craniofacial sites might contribute to the craniofacial anomalies occurring in NS.