Gastrointestinal Symptoms in Children and Adolescents With Neurofibromatosis Type 1.

Objectives: Neurofibromatosis type 1 (NF1) is a complex genetic disorder characterized by symptoms of the skin and nervous system. A previous study indicated that constipation is common in children with NF1. The aim of the present study was to investigate the phenotype and prevalence of gastrointestinal (GI) symptoms in a population of 4 to 17-year-olds with NF1 compared with their unaffected siblings.

A descriptive study of colorectal function in adults with Prader-Willi Syndrome: high prevalence of constipation.

Background: Some patients with Prader-Willi Syndrome (PWS) have symptoms of constipation, but bowel function in PWS has never been systematically evaluated. The aim of the present study was to describe colorectal function in PWS by means of validated techniques.

Methods: Twenty-one patients with PWS (14 women, age 17-47 (median = 32)) were evaluated with the Rome III constipation criteria, stool diary, digital rectal examination, rectal diameter assessed from transabdominal ultrasound, and total gastrointestinal transit time (GITT) determined with radio-opaque markers.

Magnet tracking allows assessment of regional gastrointestinal transit times in children.

Background: Data on small intestinal transit time in healthy children are lacking, and normal values for gastric emptying and colonic transit time are sparse. Conventional methods, including radiopaque markers, scintigraphy, and PillCam™ involve radiation or require the child to swallow a large pill. The minimally invasive, radiation-free Motility Tracking System-1 (MTS-1) has been introduced for description of gastrointestinal motility in adults.

Constipation in children with neurofibromatosis type 1.

Background And Objectives: Neurofibromatosis type 1 (NF1) is a hereditary, heterogenic, and multiorganic disease. The NF1 phenotype shows great variability in expressivity and often includes symptoms from the central and peripheral nervous systems. Bowel symptoms have been reported, but gastrointestinal function in NF1 remains to be described in detail.

Gastrointestinal transit times and motility in patients with cystic fibrosis.

Objective: Patients with cystic fibrosis (CF) often suffer from gastrointestinal (GI) dysfunction including obstructive symptoms, malabsorption and pain, but the underlying pathophysiology remains obscure.

Aim: To compare GI motility and transit times in CF patients and healthy controls.

Material And Methods: Ten CF patients (five women, median age 23) with pancreatic insufficiency were studied.

24-hour rectal manometry for overactive bladder.

Purpose: We describe prolonged rectal manometry used to characterize rectal motor activity patterns and possible rectum-bladder interaction during defecation and micturition in children with nonneuropathic overactive bladder.

Materials And Methods: We evaluated 10 children with a mean +/- SD age of 9.7 +/- 1.

Transabdominal ultrasound of rectum as a diagnostic tool in childhood constipation.

Purpose: We tested whether transverse rectal diameter measured by ultrasound could identify rectal impaction, investigated whether transverse diameter is enlarged in constipated children compared to healthy children and evaluated transverse diameter during treatment of constipation.

Materials And Methods: A total of 51 children 4 to 12 years old were included in the study. Of the children 27 (mean age 7.