Relationships and marriages between couples with intellectual disability are to be celebrated, as is the longer life expectancy now enjoyed by many with intellectual disability. However, dementia disproportionately affects people with intellectual disability, especially people with Down's syndrome. Research into experiences of couples without intellectual disability who are affected by dementia suggests that a relational perspective provides health and social care professionals with information to support the wellbeing of both partners. This dyadic perspective is missing for couples with an intellectual disability where one partner has dementia. There is currently no evidence base informing how each partner may best be supported. This scoping review, with three separate searches, aims to address this gap. The first search sought to establish if any studies had explored the experiences of couples with intellectual disability where one partner has dementia. After determining that no studies have been published to date, the review explores what is known about relationships in the context of dementia (N = 8) and in the context of intellectual disability (N = 10), in second and third searches. Different ways to approach care and support in relationships among partners, staff and other family members were identified and it was evident that support could act as a facilitator as well as a barrier to people and their relationships. While the lives of couples affected by dementia appeared to remain largely private, couples with intellectual disability had a high involvement of staff and family members in their life. Potential implications for future research with couples with intellectual disability affected by dementia are discussed, highlighting the importance of exploring how couples navigate emotional complexities and changes in their relationship, while understanding that the context in which the lives of people with intellectual disability take place and relationships happen is different.

Long-term left atrioventricular valvar function was evaluated in 95 of 110 survivors following surgical repair of atrioventricular septal defect between 1975 and 1984. A common or complete form was present in 40 and a partitioned or partial form in 55 patients. The patients have been followed for three to 13 years with a mean of 8.3 years. Pulmonary arterial banding was performed in 17 patients with a common atrioventricular valve prior to complete repair. The left atrioventricular valvar regurgitation was evaluated by clinical examination, Doppler and/or angiography. Three patients required valvar replacement postoperatively. Previous pulmonary arterial banding, pulmonary hypertension or pulmonary-to-systemic flow ratio did not affect the incidence or severity of left atrioventricular valvar regurgitation postoperatively. In this series left atrioventricular valvar regurgitation increased in the early postoperative period but rarely progressed at late follow-up.

Objectives: The cost-effectiveness of prenatal diagnosis intervention for Down's syndrome (DS) in China was assessed and evidence-based information for policy makers and providers is presented.

Methods: Based on field surveys in four selected cities in China and a literature review, the economic evaluation of prenatal diagnosis for DS from a societal perspective is conducted by cost-effectiveness analysis.

Results: In current clinical practice, for a cohort of 10,000 pregnant women, the strategy that delivers karyotyping by chorionic villus sampling (CVS) or amniocentesis (AC) only to those pregnant women 35 years of age and older (maternal age screening strategy) can detect .67 DS births. The strategy that offers the diagnostic test after maternal serum screening with α-fetoprotein and human chorionic gonadotrophin (maternal serum screening strategy) can detect 1.41 DS births. The cost per prevented DS birth by the maternal age screening strategy and maternal serum screening strategy is US$13,091 and US$56,048, respectively. Sensitivity analysis shows that the maternal serum screening strategy can be cost-effective if uptake rate of CVS or AC for patients with positive serum tests increase while the cost of serum screening decreases.

Conclusions: Although, in general, serum screening has been found to be more cost-effective than maternal age screening, this appears not to be the case in China. The reasons appear to be low uptake rate of the maternal serum strategy, low uptake rate of CVS or AC, and the high price of serum screening. Our findings are that health system factors concerning technology utilization are important determinants of the technology's efficiency.

Aims: To evaluate parents' satisfaction with medical and allied health services provided to children with Down syndrome in north-west England, comparing ENT and its allied services with other areas of health service provision.

Methods: A questionnaire survey of parents attending a north-west England Down syndrome association conference. Demographic data, departments visited, satisfaction with each service (scored one to five), waiting times for each service (scored one to five), service need (scored one to three) and accessibility (scored one to three) were recorded.

Results: Otolaryngology had been used by 50 per cent of children, with a satisfaction of 2.63 (the second worst score). Speech and language therapy was used by 90 per cent of the children, with a satisfaction of 3.26 (the worst score). The service felt to be most needed and also most difficult to access was speech and language therapy.

Conclusion: Otorhinolaryngology departments should assess how they can improve their service to this population with specific ENT needs. Speech and language services for children with Down syndrome should be expanded.

In a neonate born prior to term with a weight of 1825 grams, and diagnosed prenatally as having atrioventricular septal defect and Down's syndrome, we found the aortic arch to be interrupted between the left carotid artery and the left subclavian artery, with the arterial duct being the only route of distal perfusion. Three days later, however, echocardiographic interrogation revealed marked collateral connections between the aortic arch and the descending aorta, the picture then mimicking coarctation rather than interruption of the aortic arch. The rapid development of the collateral arteries was confirmed by magnetic resonance imaging and during cardiac surgery.

We describe a 31-year-old man with Down's syndrome who presented with severe chronic hypothyroidism and a massive pericardial effusion. Following partial aspiration of this effusion, he rapidly deteriorated and died. Findings at autopsy revealed him to have an atrioventricular septal defect with shunting at the atrial level. We postulate that, by releasing extrinsic pressure on his right heart by the aspiration, there was sudden shunting of blood from left-to-right, resulting in hypotension, shock, and subsequent death. We highlight the difficulties in management of such a case, and suggest alternative strategies.

Differentiation between a cleft of the mitral valve and the cleft of the left side of an atrioventricular septal defect – a lesion commonly found in patients with Down's syndrome – is surgically important since the distribution of the conduction tissue varies between the 2 lesions. We sought to determine if cleft of the mitral valve occurs also in patients with Down's syndrome. We studied 5 patients with Down's syndrome and cleft of the mitral valve followed in our institution. Echocardiography showed in all 5 patients a cleft dividing the anterior (aortic) leaflet of mitral valve with normal papillary muscle position, mural leaflet size, and ratio of the inlet/outlet dimension of the left ventricle. Associated cardiac lesions were present in all 5 patients: perimembranous ventricular septal defect in 3, ostium secundum atrial septal defect in 2 and patent ductus arteriosus in 2 patients. During the 5.6 years (0.2–11) of the follow-up period, surgical repair of the cleft was never indicated since the mitral regurgitation through the cleft remained mild or absent in all the patients. Two patients underwent closure of a ventricular septal defect, with atrial septal defect closure in one and ductal ligation in 2. One patient died suddenly at home, without evidence of a cardiac cause. In conclusion, a cleft of the mitral valve has important developmental and morphologic differences with atrioventricular septal defect and may occur in patients with Down's syndrome. If surgical repair of the cleft or of associated cardiac lesion is indicated, it is necessary to distinguish it from atrioventricular septal defect where the conduction axis is displaced posteriorly and may be exposed during surgery.

The cause of the non-disjunction leading to trisomy 21 remains unclear. Recent evidence has suggested that 5, 10-methylenetetrahydrofolate reductase (MTHFR) and/or methionine synthase reductase (MTRR) might contribute to the maternal risk of trisomy 21. The purpose of the present study was to analyse these findings among the French population and to investigate whether common polymorphisms in genes of the folate and homocysteine pathway, including the MTHFR 677C>T, MTHFR 1298A>C, the methionine synthase (MTR) 2756A>G, the cystathionine β-synthase (CBS) 844Ins68 and the reduced folate carrier (RFC-1) 80G>A polymorphisms, contribute to the risk of trisomy 21. The risk was studied by analysing independent and combined genotypes in 119 case mothers and 119 control mothers. The MTHFR 677T, MTHFR 1298C, MTR2756G, MTRR66G, CBSIns68+ and the RFC-1 80G allele frequencies were not significantly different among French case mothers, compared with control mothers. The risk of having a child with trisomy 21 did not appear to be linked to polymorphisms in genes associated with folate and homocysteine metabolism.

We describe the prevalence of extra-cardiac anomalies in children with congenital cardiac malformations, and their impact on survival, compared to the outcome in children with the congenital cardiac lesions as the only recognised anomaly.

Our population comprises the 3527 children born with congenital cardiac anomalies between 1990 and 1999, and registered at the largest tertiary centre for Paediatric Cardiology in Norway. Extra-cardiac anomalies were found in one-fifth of the population, with Down's syndrome accounting for nearly one-third. Survival improved for children born between 1995 and 1999 compared with those born in the period from 1990 to 1994 for all groups, except for children with additional extra-cardiac anomalies in the absence of Down's syndrome. The results were the same for children undergoing surgical treatment of their cardiac malformation. The survival in children with Down's syndrome improved in comparable fashion to those without extra-cardiac anomalies. Children with extra-cardiac anomalies in the absence of Down's syndrome represent a heterogeneous group, with varying patterns of survival. Survival did not improve in these latter patients during the period of our study.

Background: The survival for patients with atrioventricular septal defect has improved markedly over the last decades and, during the same period, the survival of children with Down's syndrome has also increased. The aim of our study was to investigate long-term survival in patients having atrioventricular septal defect with common valvar orifice, but without associated significant congenital heart defects, in the setting of Down's syndrome, comparing the findings to those in chromosomally normal children with the same malformation. Methods and results: In a population-based retrospective study, we scrutinised the medical records from 801 liveborn children with atrioventricular septal defect born in Sweden during the period 1973 through 1997. Data on gender, presence or absence of Down's syndrome, associated congenital heart defects, date of birth, operation and death were recorded and followed up until 2001. An isolated atrioventricular septal defect with common atrioventricular valvar orifice was present in 502 children, of whom 86% had Down's syndrome. We found a significant reduction over time in age at operation, and in postoperative mortality at 30 days, from 28 to 1%. Using a multiple logistic regression model, we found no significant differences in mortality between genders, nor between those with or without Down's syndrome. Early corrective surgery could not be identified as a significant independent factor for survival. The 5-year postoperative survival in patients with Down's syndrome increased from 65% over the period from 1973 through 1977, to about 90% in the period 1993 through 1997, and the same trend was observed in chromosomally normal patients. Conclusions: Survival in uncomplicated atrioventricular septal defect with common atrioventricular valvar orifice has greatly increased, and surgical correction is now equally successful in patients with Down's syndrome and chromosomally normal patients, and for both genders. Death in connection with surgery is no longer the major threat, and focus must now be on long-term follow-up.

Objective: No definitive peripheral biological marker has yet been found to correlate with Alzheimer's disease (AD). This study investigated the role of macrocytosis as a marker which could significantly improve our understanding of AD in the Down's syndrome (DS) population.

Methods: This study investigated the possible association between raised mean corpuscular volume (MCV) and AD in 150 adults with DS over a five year study period.

Results: A raised MCV is common in the DS population. A statistically significant association between a further elevated MCV and clinically diagnosed AD in adults with DS was found.

Conclusions: The findings suggest that further research into the association between macrocytosis and DS could improve our understanding of the underlying biological mechanisms of AD. The measurement of MCV should be undertaken in all DS individuals with a diagnosis of possible or definite dementia. A significant raised MCV (above 97fl for males and 99fl for females) may further improve the clinical diagnosis. A single MCV measurement, however, cannot be recommended as a diagnostic test for AD in adults with DS.

Objectives: Magnetic Resonance Imaging (MRI) has been used to assist the diagnosis of Alzheimer's Disease (AD) in adults with Down's syndrome (DS). However, the interpretation of the scans is difficult and clinical usefulness is uncertain. We aimed to summarise the current knowledge of MRI studies in adults with Down's syndrome with and without dementia and to discuss its implications for clinical practice.

Method: We identified MRI studies in DS by a computerised literature search with Medline, Embase, and Psychlit from 1986 to 2001. We examined the references of identified articles and hand searched relevant journals. Structural MRI studies were selected as this type of imaging is most frequently used in clinical practice.

Results: We included eight volumetric studies in adults with DS. Four of these included adults with DS and dementia. Overall, the size of brain structures such as cerebellum, hippocampus and cortex of adults with DS without dementia was significantly smaller than in normal controls. The basal ganglia were similar in size, and ventricles were enlarged. Furthermore, the size of brain structures in adults with DS and dementia was significantly different than in DS without dementia. In particular, ventricular and hippocampal volumes were affected.

Conclusions: The change in brain structure associated with dementia can be detected on MRI of adults with DS. However, these may be difficult to interpret given the extent to which brain appearance in DS differs from that in the general population. Implications for clinical practice and future research directions are discussed.

Objectives: To investigate the development of dementia over a five year follow up period in a population of females with Down's syndrome; to examine age at onset and duration of dementia in the population; to document the clinical features of dementia and to highlight scores on functional and cognitive rating scales at diagnosis of dementia and at the onset of complete dependency.

Method: A five year follow-up study of 80 female subjects on prevalence of dementia, early clinical features of dementia and patterns of scoring on rating scales at diagnosis and end-stage dementia was completed. Results: Over the five year study period the number of subjects diagnosed with dementia rose from seven (8.75%) to 35 (43.75%). Age related prevalence figures showed that dementia was more common with increasing age. The earliest recognisable symptoms of dementia were memory loss, spatial disorientation and loss of independence especially in the area of personal hygiene. These findings were confirmed by the rating scales used in the study.

Conclusions: The earliest recognisable clinical features of dementia include memory loss and increased dependency. The results of this study should facilitate earlier diagnosis of dementia in DS.

Objective: In view of the Royal College of Psychiatrists Defeat Depression campaign, to review the existing literature on depressive episodes in people with learning disabilities.

Methods: Review of all papers identified to cover this area. Papers were identified by Medline search and also by direct checking of the contents in the preceding five years of eight key learning disabilities journals, the British Journal of Psychiatry, Psychiatric Bulletin and bibliography in Current Opinions in Psychiatry. Papers about children or odd ‘depressive’ symptoms (rather than the syndrome of depression) were excluded.

Findings: For over a century it has been recognised that depression can occur in people with learning disabilities. However, the number of studies in this area is very limited. There remain many unanswered questions, such as those of prevalence, clinical presentation and diagnostic criteria, associated social factors, and the evaluation of treatments. Suitable rating scales have yet to be evaluated or devised. The authors propose diagnostic criteria for future use.

Conclusions: Research in this important area is very limited. Advances are yet to be made in the clinical assessment and management of the illness.

Objective: To determine the prevalence of dementia in an Irish sample of Down's syndrome (DS) patients and to examine the utility of a number of cognitive and functional scales in the assessment of dementia in this population.

Method: 76 DS patients diagnosed clinically (range 33–72 years; mean age 47.3 ± 8.8 years) were included in the study. The diagnosis of dementia was made on clinical grounds using DSMIIIR criteria. Cognitive and functional impairment were evaluated using the following scales; Test for Severe Impairment (TSI), Down's Syndrome Mental Status Examination (DSMSE), Daily Living Skills Questionnaire (DLSQ), and the Mental State Performance (MSP).

Results: The overall prevalence of dementia was 7.9% (95% C.I = 2.95–16.39). The presence of dementia was associated with late onset epilepsy, anticonvulsant medication and deafness. Standard cognitive tests such as the MSP showed an early ‘floor’ effect in this population. In contrast the TSI and DLSQ showed a satisfactory range of scores in these patients with moderate to severe learning disability.

Conclusions: The low prevalence of dementia in this study may be explained by the strict conservative criteria applied in the clinical diagnosis. Prospective assessment of DS patients on a longitudinal basis using decline on scales such as the TSI and DLSQ may allow more accurate diagnosis of dementia at an earlier stage in this at-risk population.

There are few reports in the literature of schizophrenia in individuals with Down's syndrome, but a suggestion that such individuals may be protected from schizophrenia. We report six cases of schizophrenia fulfilling ICD-10 guidelines, occurring in people with Down's syndrome. In one case, hypothyroidism was associated. Response to neuroleptic treatment was good. Reasons for the paucity of previous reports on this association are discussed.

Laryngeal involvement with Candida is usually secondary to pulmonary candidiasis and is seen in patients with impaired immunity. We report a case of isolated laryngeal candidiasis involving the vestibular folds and presenting with stridor in a one-year-old child with Down's syndrome and hypogammaglobulinaemia. Vestibular fold reduction and fluconazole achieved resolution of the disease. Candidiasis should be considered in any potentially immunodeficient child presenting with symptoms of laryngeal disease.