Objectives: The ESPGHAN 2012 coeliac disease (CD) diagnostic guidelines aimed to guide physicians in accurately diagnosing CD and permit omission of duodenal biopsies in selected cases. Here, an updated and expanded evidence-based guideline is presented. Methods: Literature databases and other sources of information were searched for studies that could inform on 10 formulated questions on symptoms, serology, human leukocyte antigen genetics, and histopathology. Eligible articles were assessed using QUADAS2. GRADE provided a basis for statements and recommendations. Results: Various symptoms are suggested for case finding, with limited contribution to diagnostic accuracy. If CD is suspected, measurement of total serum IgA and IgA-antibodies against transglutaminase 2 (TGA-IgA) is superior to other combinations. We recommend against deamidated gliadin peptide antibodies (DGP-IgG/IgA) for initial testing. Only if total IgA is low/undetectable, an IgG-based test is indicated. Patients with positive results should be referred to a paediatric gastroenterologist/specialist. If TGA-IgA is ≥10 times the upper limit of normal (10× ULN) and the family agrees, the no-biopsy diagnosis may be applied, provided endomysial antibodies (EMA-IgA) will test positive in a second blood sample. Human leukocyte antigen DQ2-/DQ8 determination and symptoms are not obligatory criteria. In children with positive TGA-IgA <10× ULN at least 4 biopsies from the distal duodenum and at least 1 from the bulb should be taken. Discordant results between TGA-IgA and histopathology may require re-evaluation of biopsies. Patients with no/mild histological changes (Marsh 0/I) but confirmed autoimmunity (TGA-IgA/EMA-IgA+) should be followed closely. Conclusions: CD diagnosis can be accurately established with or without duodenal biopsies if given recommendations are followed.

See Dubinsky MC et al on page 1105 in CGH;See editorial on page 1038. Background & Aims:Childhood-onset inflammatory bowel disease (IBD) might be etiologically different from adult-onset IBD. We analyzed disease phenotypes and progression of childhood-onset disease and compared them with characteristics of adult-onset disease in patients in Scotland. ; 43% vs 3%; P < .0001; OR, 23.36; 95% CI, 13.45-40.59) with less isolated ileal (L1; 2% vs 31%; P < .0001; OR, 0.06; 95% CI, 0.03-0.12) or colonic disease (L2; 15% vs 36%; P < .0001; OR, 0.31; 95% CI, 0.21-0.46). UC was extensive in 82% of the children at diagnosis, versus 48% of adults (P < .0001; OR, 5.08; 95% CI, 2.73-9.45); 46% of the children progressed to develop extensive colitis during followup. Forty-six percent of children with CD and 35% with UC required immunomodulatory therapy within 12 months of diagnosis. The median time to first surgery was longer in childhood-onset than adult-onset patients with CD (13.7 vs 7.8 years; P < .001); the reverse was true

Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in any one of seven genes, all of which have a structural or regulatory function in the cohesin complex. Although recent advances in next-generation sequencing have improved molecular diagnostics, marked heterogeneity exists in clinical and molecular diagnostic approaches and care practices worldwide. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria, both for classic CdLS and non-classic CdLS phenotypes, molecular investigations, long-term management and care planning.

The revised BSPGHAN guidelines for the diagnosis and management of coeliac disease represent an important shift in diagnostic strategy, aimed at simplifying and shortening the diagnostic process in selected cases. Guidance is given concerning the indications for testing for coeliac disease, which is still significantly underdiagnosed in the UK. While screening data suggest a likely incidence of 1 in 100 persons, only 10%-20% of this figure is currently being diagnosed.The BSPGHAN guidelines follow the new ESPGHAN guidelines in overall diagnostic strategy, while providing more didactic stratagems, which should be of assistance for paediatricians in specialties other than gastroenterology. BSPGHAN GUIDELINEThis guideline extends the earlier BSPGHAN guideline (based on NASPGHAN Coeliac Guideline of 2005 1 and the original guideline from the Welsh Paediatric Gastroenterology MCN 2 ) to incorporate the changed ESPGHAN 2012 diagnostic guideline.3 An outline of these guidelines (figures 1 and 2) are also available to download from the BSPGHAN and Coeliac UK websites. The British Society of Gastroenterology (BSG) Coeliac Guideline for Adult Coeliac Disease, which differs in respect of biopsy stratagem, is available on the BSG website http://www.bsg.org.uk.Coeliac disease (CD) is not simply a gastrointestinal condition but an immune-mediated systemic disorder, strongly dependent on the human leukocyte antigen (HLA)-DQ2 and DQ8 haplotypes. It is elicited by gluten and related prolamines in genetically susceptible individuals and characterised by a variable combination of gluten-dependent clinical manifestations, CD-specific antibodies and enteropathy. [3][4][5][6][7] Screening studies have shown prevalence much higher than previously recognised, and there is evidence of an increased incidence of both classic and non-classic presentations in UK children.

This study demonstrates that FC is an invaluable tool in determining those children who may require endoscopy for suspected IBD, and elevated values should prompt further investigation.

These NOD2/CARD 15 variants in the Scottish early onset CD population have a definite, albeit relatively small contribution to CD susceptibility (PAR 7.9%) but a major impact on phenotype. In particular NOD2/CARD15 variants are strongly associated with several markers of disease severity in pediatric CD, notably need for surgery.

Adherence and non-adherence to a gluten-free diet (GFD) may impact negatively on health-related quality of life (HRQoL). Understanding the factors that influence compliance could help inform management and also guide support. With a particular focus on adolescence, this narrative review critiques current literature on the burdens associated with following a GFD and the factors associated with adherence. Studies highlight a variety of burdens faced by individuals with coeliac disease, including the cost, access and availability of gluten-free (GF) foods, as well as the dilemmas experienced when eating out, travelling and socialising with friends. A number of studies report that adolescents face stigmatisation and feel isolated in social situations and at school. Additional burdens that are highlighted are a lack of knowledge regarding CD and GFD difficulties in interpreting food labels, as well as dissatisfaction with the organoleptic properties of GF foods. Factors associated with poor adherence in adolescence include older age, an absence of immediate symptoms, difficulties eating out and poor palatability of GF foods. Conversely, better emotional support and stronger organisation skills have been associated with superior adherence. Significant associations have been reported between HRQoL measures and adherence, although the findings are inconsistent. Limitations in research methodologies exist and data are restricted to just a few countries. Further research specific to adolescence is required to identify independent predictors of adherence.

BACKGROUND AND OBJECTIVES: Although the incidence of pediatric celiac disease (CD) is increasing globally, it is uncertain whether this is attributed to improved case ascertainment or signifies a true rise. We aimed to identify all incident cases of childhood CD in southeast Scotland over the period 1990 to 2009 to assess trends in total incidence and cases diagnosed as a result of (1) a classic presentation, (2) a nonclassic presentation, or (3) targeted screening. METHODS: Twenty-year retrospective cohort study of case notes, pathology databases, endoscopy, and patient records for all children (&lt;16 years of age) diagnosed with CD on biopsy in southeast Scotland (at-risk population of 225 000–233 000). Data were age-gender standardized and Poisson regression models used to calculate changes in incidence over time. RESULTS: A total of 266 children were diagnosed from 1990 to 2009 with an increase in incidence from 1.8/100 000 (95% confidence interval [CI] 1.1–2.7) to 11.7/100 000 (95% CI 9.8–13.9) between the epochs 1990 to 1994 and 2005 to 2009, respectively (P &lt; .0001). The incidence of nonclassic presentation (children with a monosymptomatic presentation and those with extraintestinal symptoms) and actively screened cases increased by 1566% (P &lt; .05) and 1170% (P &lt; .001) from 1990 to 1999 to 2000 to 2009, respectively. However, a rise in the incidence of Oslo classic cases from 1.51/100 000 (95% CI 0.91–2.38) in 1990 to 1994 to 5.22/100 000 (95% CI 3.98–6.75) in 2005 to 2009 (P &lt; .01) remained evident. CONCLUSIONS: The incidence of pediatric CD increased 6.4-fold over the 20 years. This study demonstrates that this rise is significant for classic CD, indicating a true rise in the incidence of pediatric CD.