Novel mutations in NOTCH2 gene in infants with neonatal cholestasis.

One cause of neonatal cholestasis (NC) is paucity of intrahepatic bile ducts which can be associated with Alagille syndrome or non- syndromic. Alagille syndrome is caused by autosomal dominant mutations in the Notch signaling pathway ligand Jagged1 in 94% of patients and mutations in the NOTCH2 receptor in <1% of patients. This is a retrospective case series studying infants with neonatal cholestasis found to have variants of unknown significance (VOUS) in NOTCH2. Sorting intolerant from tolerant (SIFT) and polymorphism phenotyping (PolyPhen) were utilized to predict a damaging effect. Five infants with NC without other features of Alagille syndrome were found to have one copy of a VOUS in NOTCH2, predicted to be damaging by SIFT and PolyPhen. Our cases support the notion that NOTCH2 mutations may result in hypoplastic biliary system. Further characterization of these variants is important to assist with our clinical approach to NC.

School nurse knowledge and perceptions of recurrent abdominal pain: opportunity for therapeutic alliance?

Recurrent abdominal pain of childhood affects up to 15% of school-age children, who face significant psychosocial consequences, including school absence. Because assessment of recurrent abdominal pain is frequently made at the school nurse level, a questionnaire was sent to 425 school nurses to evaluate perceptions about recurrent abdominal pain. Among the responses, 47.1% believed children were taking or seeking attention; 3.6% considered it a serious disease, 77.9% stated that affected children should see a physician, 51.5% believed they should relax, and 25.0% believed they needed medicine. Results indicated that school nurses were unclear on epidemiologic and etiologic features of recurrent abdominal pain and had negative views that may inadvertently contribute to the anxiety felt by affected children. Education of school nurses and communication from physicians may advance strategies designed to reduce the fiscal and social costs associated with this common childhood condition.

Treatment of functional abdominal pain in childhood with cognitive behavioral strategies.

OBJECTIVE: The aim of this study was to assess the efficacy of a cognitive-behavioral approach to the treatment of recurrent abdominal pain caused by childhood functional gastrointestinal disorders (FGIDs). METHODS: From September 2001 to December 2002, 18 patients (12 male; mean age, 12.1 +/- 4.9 years) with chronic abdominal pain (mean duration, 11.8 +/- 13.3 months) caused by FGIDs were referred to our facility's mind-body institute (MBI). Treatment included guided imagery and progressive relaxation techniques. The mean number of sessions per patient was 4.3 +/- 3.4. Outcomes included change in abdominal pain and quality of life, evaluated by the Pediatric Quality of Life Scale (PedsQL). Follow-up was 10.6 +/- 2.3 months after the last MBI session. RESULTS: Abdominal pain improved in 89% of patients; weekly pain episodes decreased from 5.5 +/- 0.9 to 2.0 +/- 2.7 (P < 0.05); pain intensity (0 to 3 scale) decreased from 2.7 +/- 0.6 to 0.6 +/- 0.7 (P < 0.04); missed school days/month decreased from 4.6 +/- 1.7 to 1.4 +/- 3.2 (P < 0.05); social activities/week increased from 0.3 +/- 0.6 to 1.3 +/- 0.6 (P < 0.05); physician office contacts/year decreased from 24 +/- 10.2 to 8.7 +/- 13.1 (P = 0.07). PedsQL scores (0 to 100 scale) improved from 55.3 +/- 11.9 to 80.0 +/- 10.7 (P < 0.03). CONCLUSIONS: Guided imagery and progressive relaxation can safely and effectively reduce chronic abdominal pain in children with FGIDs. This treatment also improved social functioning and school attendance.