R. A. Wallace

Clinical audit of gastrointestinal conditions occurring among adults with Down syndrome attending a specialist clinic

Abstract Background Adults with Down syndrome (DS) are predisposed to syndromic and environmental gastrointestinal conditions. Method In a hospital‐based clinic for adults with DS, a chart audit was conducted to assess the range and frequency of gastrointestinal conditions. Results From January 2003 to March 2005, 57 patients attended the clinic, average age 37 years (SD = 13, range 17–63), 34(60%) male, and 12(21%) with a history of institutionalisation. Of these, 56 were found to have at least one gastrointestinal concern. Of the genotypic conditions, the prevalence was as follows: 6(12%) of 51 tested had likely celiac disease, 1(2%) had achalasia, 1(2%) inflammatory bowel disease, 1(2%) cholelithiasis, 2(4%) unexplained abnormal liver function tests, 1(2%) extrinsic oesophageal compression, and 5(9%) gastro‐oesophageal reflux. Of the environmental conditions, 29(67%) of 43 tested had H. pylori infection; 13(25%) of 53 tested had hepatitis B infection (including 2 HbsAg positive, 0 HbeAg positive), 22(42%) non‐immune and 4(7%) not tested; 17(36%) of 47 tested were immune to hepatitis A, 30(64%) non‐immune and 10(18%) not tested. Of the conditions of uncertain link with Down syndrome, 11(19%) of the 57 patients had unexplained constipation; 11(19%) had unexplained chronic diarrhoea; 1(2%) had haemochromatosis; and 39(68%) presented with overnutrition. Conclusion On specific enquiry, a majority of adults with DS have a gastrointestinal condition. As many of the conditions require hospital services, specially designed protocols in this setting should be developed.

On the need for a specialist service within the generic hospital setting for the adult patient with intellectual disability and physical health problems

Although the presence of intellectual disability (ID) per se is not usually regarded as a health problem, the biopsychosocial implications of cognitive impairment contribute to the vulnerability of adult patients with ID in any healthcare system. The adult patient with ID differs from a patient in the general population in terms of health determinants, morbidity and mortality profiles, and in the ability to access quality healthcare. These differences represent a risk for adverse health and well-being outcomes in this population, and for increased costs of health services, particularly in the hospital setting. This paper focuses on addressing the issues facing the adult patient with ID, their caregivers, and health professionals, specifically in the setting of secondary and tertiary level healthcare systems.

Diagnosis of Helicobacter pylori Infection in Adults with Intellectual Disability

ABSTRACT Helicobacter pylori infection is common among adults with intellectual disability. The acceptabilities and accuracies of different diagnostic tests in this population are unknown. We aimed to determine (i) patient acceptability and (ii) performance characteristics of serology, fecal-antigen, and urea breath tests among adults with intellectual disability. One hundred sixty-eight such adults underwent H. pylori testing with serology and fecal-antigen tests, and a portion underwent treatment. One year later, the participants were retested with fecal-antigen, serology, and urea breath tests. The numbers of specimens obtained and difficulties in collection reported by caregivers were noted. Test performance characteristics were assessed among participants and 65 of their caregivers, using serology as the reference. All participants provided at least one specimen, despite reported collection difficulties for 23% of fecal and 27% of blood specimens. Only 25% of the participants provided breath specimens; failure to perform this test was associated with lower intellectual ability and higher maladaptive behavior. The sensitivity, specificity, and positive and negative predictive values of the fecal test (baseline and 12 months versus caregivers) were 70 and 63 versus 81, 93 and 95 versus 98, 96 and 92 versus 93, and 53 and 74 versus 93%, respectively; those of the urea breath test (12 months versus caregivers) were 86 versus 100, 88 versus 95, 75 versus 89, and 94 versus 100%, respectively. With assistance, fecal or blood specimens for H. pylori assessment can be provided by most patients with intellectual disability regardless of their level of function or behavior. Only those with greater ability can perform the urea breath test. Using serology as the reference test, the limitations of performance characteristics of the fecal-antigen and urea breath tests are similar to those among a control group of caregivers.

Recurrence of Helicobacter pylori infection in adults with intellectual disability

Abstract

Relation between apolipoprotein E genotype, hepatitis B virus status, and thyroid status in a sample of older persons with Down syndrome

Dementia of the Alzheimer type (DAT) is common in older persons with Down syndrome (DS). There are three common alleles of the apolipoprotein E (ApoE) gene (Σ2, Σ3, and Σ4) resulting in three different isoforms (E2, E3, and E4) and six different genotypes (2,2; 2,3; 2,4; 3,3; 3,4; and 4,4). Σ4 is a risk factor for DAT whereas Σ2 appears prophylactic. As hepatitis B virus (HBV) infection and hypothyroidism also are common in DS, we evaluated associations between ApoE type, HBV status, and thyroid status in a sample of older persons with DS (n = 55; mean age, 44.3 ± 10.8 years) using chi‐squared analysis. Participants were classified as E2 (2,2 or 2,3), E3 (3,3), or E4 (3,4 or 4,4); positive for markers of HBV infection in the present or past (i.e., total HBcAb+ and/or HBsAg+ with or without infectivity, defined as HBV+) or negative for markers of HBV infection (defined as HBV−) and, currently receiving thyroid hormone supplement (defined as “hypothyroidism”) or having normal thyroid function. The majority of the HBV+ were currently HBcAb+ and HBsAb+, but not HBsAg+. In females, there was an ApoE allele effect on thyroid status (P ≤ 0.01), E2 being negatively (P ≤ 0.01) and E4 being positively (P ≤ 0.05) associated with “hypothyroidism”. There was no evidence for an ApoE allele effect on thyroid status in males. There was no evidence for an ApoE allele effect on HBV status, or for an HBV status effect on thyroid status. As thyroid status can affect cognitive function, ApoE allele effects in DAT may, in part, be thyroid effects.

Stool antigen testing for the diagnosis and confirmation of eradication of Helicobacter pylori infection

We were interested to read the article by Islam and colleagues in the Internal Medicine Journal on Helicobacter pylori stool antigen (HpSA) testing for the diagnosis and confirmation of eradication of H. pylori infection. The authors stated that this was the first comparative study of the faecal antigen test in Australasia. In fact, we undertook a study on the performance characteristics of HpSA, which was published in 2003. Our study involved 168 adult participants with intellectual disability (ID) living in Brisbane, Australia, in whom we assessed the biopsychosocial implications ofH. pylori infection and eradication. Helicobacter pylori infection is much higher in this population, particularly those with a history of institutionalization, compared with their age-matched peers in the general population, and there is substantial evidence that the disease effects (peptic ulcer disease and gastric cancer) are also more prevalent in this population. Given the possible difficulties in compliance and previously untested

A Response to the Invited Commentaries on Wallace and Beange (2008).

We thank Dr O’Hara (2008) for his thoughtful comments. He sets our example of a small-scale model of specialised service within the broader context of healthcare delivery, and points out its possible relevance to larger-scale economies. We are indebted to him for drawing attention to the ‘‘quality chasm’’ demonstrated by the poor outcomes and adverse events experienced by many patients with ID in the healthcare system, resulting in such a ‘‘burden of harm’’. Dr O’Hara rightly points out that health literacy is important to preventive healthcare both for people with ID and for the general patient population. We agree that all of us can improve our health by knowing about our bodies. However it was our intention to describe a model for dealing with the inevitable problems of poor health literacy that reach the secondary health system. It is gratifying to hear him advocate the creation and evaluation of models of specialised healthcare delivery such as the one we have described. Creation necessarily comes first, and we look forward to seeing some evaluative research of similar existing or planned services.