CHARGE syndrome gastrointestinal involvement: from mouth to anus.

CHARGE syndrome is an autosomal dominant disorder that occurs as a result of a heterozygous loss-of-function mutation in the chromodomain helicase DNA-binding (CHD7) gene, which is important for neural crest cell formation. Gastrointestinal (GI) symptoms and feeding difficulties are highly prevalent but are often a neglected area of diagnosis, treatment, and research. Cranial nerve dysfunction, craniofacial abnormalities, and other physical manifestations of this syndrome lead to gut dysmotility, sensory impairment, and oral-motor function abnormalities. Over 90% of children need tube feeding early in their life and many experience weak sucking/chewing, gastroesophageal reflux disease (GERD), and aspiration. The mainstay of treatment thus far has consisted of feeding therapy, GERD medications, Nissen fundoplication, gastrostomy/jejunostomy, and food texture limitation. Owing to the multitude of severe medical issues associated with this genetic disorder, GI involvement is often overlooked. Here, we report on five patients with CHARGE syndrome who manifested a range of severe GI and feeding difficulties.

The impact of a complex care clinic in a children's hospital.

BACKGROUND: The number of medically complex and fragile children (MCFC) cared for in children's hospitals is growing, necessitating the need for optimal care co-ordination. The purpose of this study was to describe the impact of a nurse practitioner/paediatrician-run complex care clinic in a tertiary care hospital on healthcare utilization, parental and primary care provider (PCP) perceptions of care and parental quality of life. METHODS: MCFC and their parents were recruited for ambulatory follow-up by the hospital team to complement care provided by the PCP in this mixed methods single centre pre- or post-evaluative study. Parents participated in semi-structured interviews within 48 h of discharge; further data were collected at 6 and 12 months. Healthcare utilization was compared with equal time periods pre-enrolment. Parental health was assessed with the SF-36; parental perceptions of care were assessed using the Larsen's Client Satisfaction Questionnaire and the Measure of Processes of Care; PCPs completed a questionnaire at 12 months. Parental and PCP comments were elicited. Comparisons were made with baseline data. RESULTS: Twenty-six children and their parental caregivers attended the complex care clinic. The number of days that children were admitted to hospital decreased from a median of 43 to 15 days, and outpatient visits increased from 2 to 8. Mean standardized scores on the SF-36 increased (improved) for three domains related to mental health. A total of 24 PCPs responded to the questionnaire (92% response); most found the clinic helpful for MCFC and their families. Parents reported improvements in continuity of care, family-centredness of care, comprehensiveness and thoroughness of care, but still experienced frustrations with access to services and miscommunication with the team. CONCLUSION: A collaborative medical home focused on integrating community- and hospital-based services for MCFC is a promising service delivery model for future controlled evaluative studies.

Disclosure of medical error to parents and paediatric patients: assessment of parents' attitudes and influencing factors.

OBJECTIVE: To assess parental preferences for medical error disclosure and evaluate associated factors. DESIGN: Prospective survey. SETTING: Hospital for Sick Children, Toronto, Canada. PARTICIPANTS: Parents of inpatients and outpatients. MAIN EXPOSURE: Anonymous questionnaire administered on May to August 2006, surveying demographic characteristics and identifying parents' thresholds for disclosure using a vignette with six levels of harm. MAIN OUTCOME MEASURES: Preferred thresholds for parent and patient disclosure and associated factors. RESULTS: 99% of 431 parents (181 inpatients, 250 outpatients) wanted disclosure if there was potential or actual harm versus 77% if there was none (p<0.0001). Most parents (71% vs 41%) wanted their child similarly informed (p<0.0001). Parental age, education, experience with error and child's age did not affect preferences for disclosure. Parents of inpatients (p=0.03, OR 1.65, 95% CI 1.04 to 2.62) and those born in Asia (vs North America) had a lower disclosure threshold (p=0.014, OR 2.4, 95% CI 1.2 to 4.9), and administering the survey with increasing harm had a higher disclosure threshold (p<0.0001, OR 2.46; 95% CI 1.58 to 3.83). EXPERIENCE WITH ERROR: (p=0.05, OR 1.5, 95% CI 1 to 2.2) and child age (eg, or= 11 years (p<0.0001, OR 2.74, 95% CI 1.73 to 4.33)) directly affected preferences for informing the child. Asian parents had a lower threshold for informing the child than North American parents. CONCLUSIONS: Most parents want disclosure and want their child informed of errors with harm. While parental birth country, experience with error and patient age influenced parents' desire for disclosure to their child, the details of disclosure warrant study.

Tube feeding and quality of life in children with severe neurological impairment.

OBJECTIVE: To assess the quality of life (QOL) of neurologically impaired children before and after gastrostomy (G) and gastrojejunostomy (GJ) tube insertion. DESIGN: This was a prospective longitudinal study of children with severe neurological impairment who underwent G or GJ tube insertion. At baseline, and at 6 and 12 months after tube insertion, parents rated (1) global QOL and health-related quality of life (HRQOL) using 10 cm visual analogue scales, with 10 representing maximal QOL and (2) HR-QOL using a questionnaire-based measure. RESULTS: Fifty patients, 45 and five of whom underwent G and GJ tube insertion, respectively, were enrolled with a median age of 591 days. Forty-two had a static neurological disorder, and eight had a progressive neurological disorder. The mean weight for age z score increased significantly over time: -2.8 at baseline and -1.8 at 12 months. The mean QOL and HR-QOL scores at baseline were 5.5 and 5.6 out of 10, respectively. There was no significant change in these scores at 6 and 12 months post-tube insertion. Children with a progressive versus a static neurological disorder had a significantly lower QOL over time. Ease of medication administration as well as feeding showed a significant improvement in scores from baseline to 12 months. Parents felt that the G and GJ tube had a positive impact on their child's health at 6 months (86%) and 12 months (84%). CONCLUSION: QOL as rated by parents did not increase following insertion of a G or GJ tube in neurologically impaired children. However, parents felt that the tube had a positive impact on their child's health, particularly with regards to feeding and administration of medications.

Enterostomy tube placement in children with spinal muscular atrophy type 1.

OBJECTIVE: To determine the major complication rate in the first 30 days after enterostomy tube insertion in infants with spinal muscular atrophy (SMA) type 1. STUDY DESIGN: A retrospective case review of all children with SMA type 1 who had a gastrostomy or gastrojejunostomy tube placed by the image-guided technique at the Hospital for Sick Children from 1994-2004. Major complications were classified as peritonitis, aspiration pneumonia, respiratory failure, nonelective admission to the pediatric intensive care unit, and death. RESULTS: Twelve children were identified as having SMA type 1 with an enterostomy tube insertion. The median age at tube insertion was 6.1 months (range 2.2 to 15.8 months). Major complications in the first 30 days after the procedure included aspiration pneumonia (5/12 patients [41.6%]), respiratory failure requiring admission to the pediatric intensive care unit (4/12 [33%]), and death (2/12 [16.7%]). Children with development of aspiration pneumonia were significantly older at time of tube insertion (P < .05) than those with no aspiration. CONCLUSIONS: Major complications including death are seen in children with SMA type 1 in the first 30 days after enterostomy tube insertion.