AI Article Synopsis
- The study evaluated the presentation and development of infants with Hirschsprung disease during their first year, focusing on growth and developmental outcomes at 12 months.
- The research involved 54 infants, with a majority having short-segment Hirschsprung disease; the study noted significant gastrointestinal issues and some complications such as anal stenosis and enterocolitis.
- Despite these challenges, the infants generally showed satisfactory growth and development, but their cognitive scores were lower than average, indicating a need for further long-term studies.
Article Abstract
Objectives: To describe the presentation and progress over the first year of life of neonates with Hirschsprung disease, to describe their physical and developmental outcomes at 12 months of age, and to compare the outcomes of infants with short- vs long-segment Hirschsprung disease.
Study Design: A retrospective study of neonates born with Hirschsprung disease in Western Australia between January 1, 2001, and December 31, 2010, to review their presentation, progress, growth, and development at 12 months of age.
Results: Fifty-four infants were identified (40 with short and 11 with long segment and 3 with total colonic aganglionosis); 9 infants had a recognized syndrome and 1 infant died, unrelated to Hirschsprung disease. A primary pull-through procedure was performed in 97% and 21% of neonates with short- and non-short-segment Hirschsprung disease, respectively; 17 (31%) infants developed anal stenosis requiring dilatations. Enterocolitis occurred in 14 (26%) infants. Griffiths Mental Development Scale scores (1 year) were available in 31 of 45 nonsyndromic survivors: mean general quotient (94.2, SD 8.89) was significantly less than the population mean (P = .007), but the number of infants with developmental delay was within the expected range. Physical growth, except length, appeared adequate in nonsyndromic infants. There were no significant differences in the outcomes of infants with short- vs non-short-segment Hirschsprung disease.
Conclusions: At 1 year of age, many infants with Hirschsprung disease have ongoing gastrointestinal problems. Their overall growth appears satisfactory, and most infants are developing normally; however, their mean general quotient appears shifted to the left. Longer-term studies will better define developmental outcomes.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.jpeds.2014.02.062 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Frozen Section Doughnuts Obtained with a 5 mm Stapling Device Improve Outcomes in Laparoscopic Endorectal Pull-Throughs for Hirschsprung's Disease.
J Laparoendosc Adv Surg Tech A
January 2025
The Department of Paediatric Surgery, The Royal Hospital for Children Glasgow, Glasgow, United Kingdom.
A primary pull-through for Hirschsprung's disease (HD) requires confirmation of normal ganglionic bowel by intraoperative biopsies to determine the level of resection. Despite this, aganglionic bowel that is not fully resected (so-called "transition zone pull-throughs") is reported in 15%-19% of patients. We hypothesize that this may result from insufficient biopsies sent for intraoperative diagnosis.
View Article and Find Full Text PDFTwo Different Brain Injury Patterns Associated with Compound Heterozygosis of the PIGO Gene in a Term Newborn: A Case Report.
Biomedicines
December 2024
Diagnostic and Interventional Neuroradiology Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
The glycosylphosphatidylinositol (GPI) is a glycol-lipid that anchors several proteins to the cell surface. The GPI-anchor pathway is crucial for the correct function of proteins involved in cell function, and it is fundamental in early neurogenesis and neural development. The PIG gene family is a group of genes involved in this pathway with six genes identified so far, and defects in these genes are associated with a rare inborn metabolic disorder manifesting with a spectrum of clinical phenotypes in newborns and children.
View Article and Find Full Text PDFWhole-genome sequencing identified ALK as a novel susceptible gene of Hirschsprung disease.
Arab J Gastroenterol
January 2025
Department of Pediatric Surgery, Tongji Medical College, Union Hospital, Huazhong University of Science and Technology, Wuhan 430015, China.
Background And Study Aims: Hirschsprung disease (HD) is a complex developmental disease that resulted from impaired proliferation and migration of neural crest cells. Despite the genetic causation of enteric nervous system have been found to be responsible for part of HD cases, the genetic aetiology of most HD patients still needs to be explored.
Patients And Methods: Whole-genome sequencing and subsequent Sanger sequencing validation analysis were performed in 13 HD children and their unaffected parents.
Gastrointestinal (GI) motility is regulated in a large part by the cells of the enteric nervous system (ENS), suggesting that ENS dysfunctions either associate with, or drive GI dysmotility in patients. However, except for select diseases such as Hirschsprung's Disease or Achalasia that show a significant loss of all neurons or a subset of neurons, our understanding of human ENS histopathology is extremely limited. Recent endoscopic advances allow biopsying patient's full thickness gut tissues, which makes capturing ENS tissues simpler than biopsying other neuronal tissues, such as the brain.
View Article and Find Full Text PDFA Rare Case of Idiopathic Megacolon and Megarectum.
Cureus
December 2024
General Surgery, King's College Hospital London, Dubai Hills, Dubai, ARE.
Idiopathic megacolon and megarectum are rare clinical conditions characterized by irreversible dilation of the colon and rectum without an identifiable organic cause. The underlying pathophysiology remains poorly understood, though hypotheses suggest abnormalities in the enteric nervous system or smooth muscle dysfunction. These conditions present significant diagnostic and therapeutic challenges, especially in cases refractory to conservative treatment.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!