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PubMed2004

[The effect of Helicobacter pylori eradication on chronic use of acid-suppressant medication by patients in general practice; a randomised, double-blind study].

OBJECTIVE: To study the feasibility of tapering long-term acid-suppressant drugs (ASD) use in chronic dyspeptic patients in relation to Helicobacter pylori eradication. DESIGN: Prospective randomised double-blind study. METHOD: Patients from 54 general-practitioner practices in the Amsterdam area were studied in the period 1 April 1997 - 30 September 1999 after selection on the basis of their use of acid suppressants for a period of at least 8 weeks. After gastroscopy the patients with a peptic ulcer (PUD) and H. pylori were treated with eradication therapy and patients without an ulcer but with H. pylori were randomised for eradication or placebo treatment. After a gradual reduction of acid suppressants over a 3-week period following the intervention, the patients kept a diary for 24 weeks of the quantities of acid suppressants and antacids they used. RESULTS: Of the 1083 patients approached, 434 were prepared to undergo the gastroscopy. Data for the follow-up period were available for 186 of the 227 H. pylori-positive patients. Of them 61% stopped ASD use during follow-up. The mean daily ASD dosage per patient decreased by 85% from 1.85 to 0.27 units (p < 0.05), with minimal antacids use. Of the 75 patients with peptic-ulcer disease 86% stopped ASD use. In patients with functional dyspepsia no difference in ASD use was observed after successful H. pylori eradication or placebo. Patients with mild reflux disease (GERD) used more ASD after H. pylori eradication than after placebo (p < 0.05). CONCLUSION. After H. pylori eradication many patients with PUD stopped ADS use, while GERD patients used more ASD than after placebo. A gradual withdrawal of long-term ASD use, supported by antacids and on-demand use of low-dosage ASD, facilitated reduction of ASD use during 6 months.

Adolescent↗
PubMed1995

Structural and non-structural disease underlying high-risk cardiac arrhythmias relevant to sports medicine.

Problems of arrhythmogenic sudden death (ASD) in athletes have been re-assessed on the clinicopathological plane, encompassing the emerging, unsolved, question of so-called idiopathic ventricular tachycardia, and its debated diagnostics versus arrhythmogenic right ventricular dysplasia-cardiopathy. Ischemic-infarction ASD from coronary artery pathology in young athletes has been seen to present with atherosclerotic "soft" subintimal plaques, rich in newly formed smooth myocytes, often attended by adventitial mast cell, as suspect microscopic markers of spasm, relevant to reperfusion; these features can be found also in precociously intramural arteries, responsible for ASD. Rare congenital abnormalities of the coronary ostia occasionally underlie ASD, together with the acquired aneurysmic coronaritis of chronic Kawasaki disease. Ischemic ASD can also be due to coronary arteriolopathy attending hypertrophic cardiomyopathy, a not uncommon disease in athletes, to be carefully discriminated from training heart hypertrophy. Young South-American sportsmen with Chagas' chronic cardiopathy seem to be at particular risk of ASD. Minor, but specific arrhythmogenic cardiac malformations such as accessory AV pathways have been detected in athletes succumbing to otherwise unexplained ASD, undergone careful post-mortem investigation. The need of more attentive and extended histopathologic control emerges from the hitherto ignored cardiac neuropathological substrates of reflexogenic ASD, which is cogent to problems of ASD in competing athletes. The thorough examination of the cardiac vascular centers in the brain stem, and of the peripheral cardiac innervation, at either abutments of the arc of dive- and/or Bezold-Jarisch cardioinhibitory-vasodepressor reflex, made it possible to suggest novel clinicopathological explanations in controversial cases of athletes' ASD, safeguarding from grave leval misjudgements due to sport's forensic medical mistakes.

Arrhythmias, Cardiac↗
PubMed2006

Gray and white matter brain chemistry in young children with autism.

CONTEXT: The brain pathophysiological abnormalities underlying autism remain unclear. Neuroimaging and histological studies suggest cellular abnormalities early in the course of the disease. OBJECTIVE: To measure the in vivo chemical profile of gray and white matter tissues in autism. DESIGN: Cross-sectional spectroscopic imaging study comparing 3- to 4-year-old children with autism spectrum disorder (ASD) with age-matched comparison groups of children with delayed development (DD) and typical development (TD). SETTING: The University of Washington Diagnostic Imaging Sciences Center, Seattle. PARTICIPANTS: Forty-five 3- to 4-year-old children with ASD, 12 age-matched children with DD, and 10 age-matched children with TD. MAIN OUTCOME MEASURES: Estimates of gray and white matter concentrations for choline-containing compounds (Cho), creatine plus phosphocreatine, N-acetylaspartate (NAA), and myo-inositol (mI). Transverse relaxation times for Cho, creatine plus phosphocreatine, and NAA expressed relative to control subjects with TD were examined to evaluate tissue compactness. RESULTS: The children with ASD demonstrated decreased gray matter concentrations of Cho (P < .001), creatine plus phosphocreatine (P = .02), NAA (P = .02), and mI (P = .008) compared with children with TD. Gray matter Cho transverse relaxation was also prolonged for the ASD sample compared with the TD group (P = .01). The children with ASD demonstrated significantly decreased levels of Cho (P = .04) and mI (P = .008) and trend-level NAA (P = .09) in gray matter compared with the DD group. For white matter, both children with ASD and children with DD showed a similar pattern of NAA and mI level decreases (for children with ASD vs children with TD: NAA, P = .03; mI, P = .04; for children with DD vs children with TD, NAA, P = .03; mI, P = .07). In several analyses, cerebral volume contributed significantly as a covariate. CONCLUSIONS: Reduced gray matter chemical concentrations and altered Cho transverse relaxation, in a pattern distinct from that in children with DD, suggest decreased cellularity, or density, at this early time point in ASD. Possibly reflecting shared developmental features, white matter results were common to ASD and DD groups. The relationship between cerebral volume and neurochemistry at this early time point may indicate processes related to unit scaling.

Aspartic Acid↗
PubMed2006

A prospective assessment of porphyrins in autistic disorders: a potential marker for heavy metal exposure.

Autism was recently associated with a urinary porphyrin pattern indicative of mercury toxicity in a large cohort of French children. The IRB of the Institute for Chronic Illnesses approved the present study. A total of 37 consecutive American patients (> or = 7 years-old) with autism spectrum disorders (ASDs) (Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition-DSM IV), born from 1983-1998, that presented to the Genetic Centers of America for outpatient genetic evaluations were prospectively examined for urinary prophryin levels (LabCorp, Inc.) from June 2005-June 2006. Imaging and laboratory testing were conducted on each patient to rule-out other causal factors for their ASDs. As controls, age-, sex-, and race-matched neurotypical ASD siblings were examined. An apparent dose-response effect was observed between autism severity and increased urinary coproporphyrins. Patients with non-chelated autism (2.25-fold, 83% had levels > 2 SD above the control mean) and non-chelated ASDs (2-fold, 58% had levels > 2 SD above the control mean), but not patients with non-chelated pervasive developmental delay-not otherwise specified (PDD-NOS) or Asperger's disorder (1.4-fold, 46% had levels > 2 SD above the control mean), had significantly increased median coproporphyrin levels versus controls. A significant increase (1.7-fold) in median coproporphyrin levels was observed among non-chelated ASD patients versus chelated ASD patients. Porphyrins should be routinely clinically measured in ASDs, and potential ASD treatments should consider monitoring porphyrin levels. Additional research should be conducted to evaluate the potential role for mercury exposure in some ASDs.

Adolescent↗
PubMed1995

Echocardiographic predictors of success of catheter closure of atrial septal defect with the buttoned device.

Transcatheter occlusion of ostium secundum atrial septal defects (ASD) with the buttoned device has been shown to be feasible, effective, and safe. The final decision to implant the device is largely based on the balloon sizing of the ASD during cardiac catheterization. Only subjective criteria of ASD size and the septal rims on echocardiography have been used before catheterization, balloon sizing, and transcatheter occlusion. The purpose of this study was to determine whether objective echo criteria could be developed to predict successful occlusion of the ASD. During a 46-month period ending August 1992, 29 children with secundum ASD were evaluated for transcatheter occlusion. The device was successfully implanted in 15 (group A); in the remaining 14 children, this procedure could not be performed (group B). Preocclusion echos were analyzed by independent investigators who had no knowledge of outcome of the procedure. Echo parameters studied included size of ASD, length of atrial septum (LAS), and size of the superior and inferior rims in precordial and subcostal views and maximum jet width by color flow mapping. From these measurements several ratios were derived, and the data were compared. A smaller (p < 0.05) ASD was present in the group of patients with successful implantation of the device; LAS was similar (p > 0.1) in both groups. A lower (p < 0.05) ratio of ASD to LAS and a higher (p < 0.05) ratio of the superior and inferior septal rims to ASD were associated with the group of patients with successful implantation of the device.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1991

Uses and limitations of transthoracic echocardiography in the assessment of atrial septal defect in the adult.

Two-dimensional and color Doppler echocardiography accurately detected the presence of an atrial septal defect (ASD) in 47 of 50 adults (mean age 40 years) confirmed by surgery or cardiac catheterization, or both. It correctly categorized all patients with ostium secundum and ostium primum ASD but misdiagnosed 3 of 5 patients with surgically proven sinus venosus ASD. The shunt flow volume across the ASD was calculated with the standard Doppler equation, and assuming the ASD to be circular correlated with shunt flow volume obtained by cardiac catheterization (r = 0.74). The maximum width of the color flow signals moving across the ASD was taken as its diameter. Mean flow velocity was determined either by placing a pulsed Doppler sample volume parallel to the flow across the ASD as visualized by color Doppler or by color M-mode examination, which allowed determination of flow velocities using a previously validated method that incorporates a computer analysis of pixel color intensity. The pulmonary to systemic blood flow ratio obtained by color-guided conventional Doppler interrogation of the left and right ventricular outflow tracts correlated poorly with cardiac catheterization results (r = 0.38). In patients with associated tricuspid regurgitation, the peak systolic pulmonary artery pressure obtained by color Doppler-guided continuous-wave Doppler correlated well with that obtained at cardiac catheterization (r = 0.89). The maximum color Doppler jet width of the flow across the ASD poorly correlated with ASD size estimated at surgery (r = 0.50).

Adolescent↗
PubMed2004

Recovery kinetics of oxygen uptake is prolonged in adults with an atrial septal defect and improves after transcatheter closure.

BACKGROUND: In adults with an atrial septal defect (ASD) transcatheter closure leads to an improvement of peak oxygen uptake (VO2), but the kinetics of recovery of VO2 after maximal exercise in this patient population and the impact of transcatheter ASD closure have never been investigated. METHODS: Twenty consecutive patients underwent a maximal cardiopulmonary exercise test both the day before and 6 months after transcatheter ASD closure. For comparison, an age- and sex-matched group consisting of 53 healthy adults was built. The constant decay of VO2, CO2 production (VCO2), minute ventilation (VE), and heart rate (HR), expressed as the first-degree slope of a single linear relation, were calculated for the first minute of recovery. RESULTS: Patients with an ASD had a prolonged VO2 slope (P =.0012), VCO2 slope (P =.0003), and VE slope (0.013) when compared with control subjects. Six months after transcatheter ASD closure, significant improvements of VO2 slope (P =.0043) and of VCO2 slope (P =.0022) were recorded, so that no difference was found when compared with those of the control group (P =.1 and P =.06, respectively). The VE slope and HR slope did not change after closure. A significant association between VO2 slope and peak VO2 in the group of patients with ASD was shown by the Spearman correlation, both before (r = 0.67, P =.0012) and after ASD closure (r = 0.71, P =.0004). CONCLUSIONS: A limited cardiopulmonary reserve in adults with no symptom who have an ASD appears to affect not only maximal exercise responses but also the recovery phase. Transcatheter ASD closure induces a significant improvement of the ability of recovering from maximal exercise and eliminates the difference with a healthy population.

Adolescent↗
PubMed2004

Effect of chamber capacitance on Doppler flow pattern across restrictive defects in obligatory atrial-level shunts.

The right atrium has a significantly higher capacitance than the left atrium, and this may affect the Doppler flow pattern across an atrial septal defect (ASD) in unilateral atrioventricular (AV) valve atresia. This Doppler flow pattern is often used to assess ASD adequacy in this setting. We studied the effect of atrial capacitance and ASD size on the trans-ASD Doppler flow pattern in an in vivo flow model of alternate left or right AV valve atresia (LAVVA and RAVVA). We assessed trans-ASD Doppler flow patterns using the max/min velocity ratio and mean interatrial pressure gradients (PGs). In both models, ASD flow rate correlated with mean trans-ASD PG, but for similar flow rates the slope was higher in the LAVVA model. In LAVVA, a persistent PG was consistently observed, with low max/min ratio (median, 1.46; range, 1.03-3.13), whereas in RAVVA, phasic flow was common (median, 8.0; range, 2.8-20). Because atrial capacitance affects mean PG and Doppler flow pattern across the ASD, we propose that the assessment of ASD adequacy in RAVVA should not rely on Doppler findings.

Animals↗
PubMed1999

Analysis of ventricular septal motion by doppler tissue imaging in atrial septal defect and normal heart.

The aortic root and the upper part of the ventricular septum moves anteriorly in early systole, while the lower part moves posteriorly. The hinge of the counterpart motion of the ventricular septum is called pivot point. Using Doppler tissue imaging (DTI), we attempted to clarify the location of the pivot point of the ventricular septum in children with normal heart and with atrial septal defect (ASD), and to investigate the relation between the degree of the downward shift of the pivot point and that of volume overload of the right ventricle in patients with ASD. Study subjects consisted of 20 healthy children and 36 patients with ASD, aged from 1 to 15 years (mean 5.7+/-3.4) in the normal group and 6 months to 12 years (mean 4.4+/-3.2) in the ASD group, respectively. The pivot point was designated as a border of the color signal of DTI of the ventricular septum in early systole. Measurements were then obtained on cross-sectional echocardiography and DTI: septal length in the parasternal long-axis view, distance from aortic valve to pivot point in early systole, diastolic left ventricular internal dimension, and diastolic right ventricular internal dimension. In the normal group, the ratio of distance from aortic valve to pivot point/septal length was 0.13+/-0.049, whereas it was 0.26+/-0.168 in the group with ASD (p <0.001). In the ASD group, the distance from aortic valve to pivot point normalized by body surface area (mm/m2) correlated with the ratio of diastolic right/left ventricular internal dimension and with the ratio of pulmonary to systemic flow (Qp/Qs) (r = 0.63 and 0.50, respectively). The ratio of the distance from aortic valve to pivot point/septal length correlated with the ratio of diastolic right/left ventricular internal dimension and Qp/Qs (r = 0.56 and 0.44, respectively). By DTI, the pivot point was located at the upper 13+/-5% of the total length of the ventricular septum in normal children, and was located at 26+/-17% in patients with ASD (p < 0.001). The degree of this displacement in ASD correlated with that of volume overload of the right ventricle. The paradoxic motion of the ventricular septum shown in the ASD could be explained by this downward shift of the pivot point.

Adolescent↗
PubMed2003

[Percutaneous catheter closure of atrial septal defect. Short-term and mid-term results].

INTRODUCTION: Percutaneous closure of atrial septal defects (ASD) is becoming more frequent. PATIENTS AND METHOD: From October 1997 to October 2002, 209 patients, age 0.4-70 (mean 19.5) years, were catheterized to close an ASD or patent foramen ovale (PFO). Transesophageal echocardiography was performed simultaneously in all patients. Two hundred and six patients had ASD (25 multiple ASDs) and 3 had PFO. Three devices were used, the Amplatzer Atrial Septal Occluder (ASO), CardioSeal (CS), and Starflex (SF). RESULTS: Device implantation was achieved in 181 patients (87%) but had to be abandoned in 28 patients, generally because the ASD was too large. One hundred and seventy-four ASOs were implanted in 172 patients with ASD (2 ASOs were implanted in 2 patients with double ASD) and CS/SF in 9 patients (3 patients with PFO and 6 with ASD). The procedure was effective in 166/172 (96%) ASO implantations and in 8/9 (89%) CS/SF implantations. The procedure was unsuccessful in 7 patients and the device had to be removed (6 ASO and 1 SF). The occlusion rate with ASO was 88% after 24 hours, 91% after 1 month, 95% after 1 year, 97% after 2 years, and 100% after 4 and 5 years. All defects treated with SF/CS were closed successfully after 24 hours. In one case the ASO device was embolized to the aorta. In the first month after ASO implantation, supraventricular tachycardia appeared in 2 patients and transient left ventricular failure in 2 patients. No late complications were observed. CONCLUSION: Percutaneous catheter closure of selected types of ASD using the Amplatzer Atrial Septal Occluder, CardioSeal, or Starflex should be offered to patients as non-surgical alternative. The type of device used depends on the defect size and morphology as well as the surgeon's experience. The presence of multiple defects does not exclude the possibility of a successful percutaneous catheter closure.

Adolescent↗
PubMed2003

Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome.

OBJECTIVES: We sought to examine the importance of mutations in the cardiac transcription factor gene NKX2-5 in patients with an atrial septal defect (ASD), patent foramen ovale (PFO), or hypoplastic left heart syndrome (HLHS). BACKGROUND: Mutations in NKX2-5 have been found in families showing secundum ASD and atrioventricular (AV) conduction block and in some individuals with tetralogy of Fallot. The prevalence of NKX2-5 mutations in sporadic cases of ASD/PFO and other forms of congenital heart disease is unknown. METHODS: A cohort of 146 individuals with secundum ASD, PFO complicated by paradoxical embolism, or HLHS were evaluated. Patients with ASD or PFO were ascertained irrespective of family history or associated cardiac abnormalities. The coding region of the NKX2-5 locus was amplified by polymerase chain reaction and sequenced. RESULTS: Among 102 ASD and 25 PFO patients screened, 13 patients (10%) had a positive family history and 5 patients (4%) had AV conduction block. We found one previously documented NKX2-5 missense mutation, T178M, in members of a family with ASD without AV conduction block. One NKX2-5 mutation-positive child from this family had HLHS, although no mutations were subsequently found in 18 patients with sporadic or familial HLHS. In a second ASD family without AV conduction block, we found a missense change, E21Q, previously reported as pathogenic. Because this change did not segregate with disease status, we propose that it is a non-disease-causing polymorphism. CONCLUSIONS: Our findings suggest that NKX2-5 mutations are a relatively infrequent cause of sporadic ASD and HLHS. Screening for NKX2-5 mutations may be warranted in individuals with ASD and a positive family history, irrespective of the presence or absence of AV conduction block.

Adolescent↗
PubMed1999

The relationship between acute stress disorder and posttraumatic stress disorder: a 2-year prospective evaluation.

Previous research established that 78% of a sample of motor vehicle accident survivors initially diagnosed with acute stress disorder (ASD) were subsequently diagnosed with posttraumatic stress disorder (PTSD) at 6 months posttrauma. Although the previous study provided initial evidence for the utility of the ASD diagnosis, the relationship between ASD and PTSD was assessed over a relatively short period. The present study reassessed that original sample 2 years following the trauma to establish the longer term relationship between ASD and PTSD. ASD was diagnosed in 13% of participants, and 21% were diagnosed with subsyndromal ASD. In terms of participants who participated in all 3 assessments, 63% who met the criteria for ASD, 70% who met the criteria for subsyndromal ASD, and 13% who did not meet the criteria for ASD were diagnosed with PTSD at 2 years posttrauma. These findings indicate the importance of considering multiple pathways to the development of PTSD.

Acute Disease↗
PubMed1999

Prescription of acid-suppressing drugs in relation to endoscopic diagnosis: a record-linkage study.

BACKGROUND: Although widely used, few data are available on the appropriateness of prescribing of acid-suppressing drugs (ASDs), despite guidelines on the investigation and treatment of dyspeptic patients. METHODS: We created a database of 62 000 endoscopy examinations and record-linked these to a prescribing database. Endoscopic diagnoses were classified into peptic, nonpeptic and others. The H2-antagonists, omeprazole and misoprostol, were studied. RESULTS: 35 000 patients had one or more endoscopies during 1978-93; two-thirds were over 45 years of age at first endoscopy. A quarter of all patients who had been endoscoped had consistently normal examinations. Peptic oesophageal pathology was the commonest positive finding. A quarter of those prescribed ASDs between 1989 and 1993 had been endoscoped between 1978 and 1993. In those with a peptic diagnosis prescribed any ASD, the pathologies found were: oesophageal (42.9%), duodenal (36.3%) and gastro-pyloric (21.3%). Patients prescribed omeprazole were more likely to have undergone endoscopy than those prescribed other ASDs, and they were also more likely to have peptic oesophageal pathology. Long-term prescribing (>56 days per year) occurred in two-thirds of patients prescribed ASDs and 40% had at least one endoscopy. In those prescribed short-term ASDs, 20% had undergone at least one endoscopy. Peptic and nonpeptic endoscopic pathology was associated with increased ASD prescribing, but a normal endoscopy did not reduce prescribing. CONCLUSION: ASD prescribing appeared to be mainly symptom-driven. Positive endoscopic findings increased the prescribing of ASDs, but normal findings did not reduce it.

Aged↗
PubMed2001

The role of transesophageal echocardiography in transcatheter closure of secundum atrial septal defects by the Amplatzer septal occluder.

BACKGROUND: Our purpose was to determine the role of transesophageal echocardiography (TEE) in the closure of atrial septal defects by the Amplatzer septal occluder (ASO) (AGA Medical, Golden Valley, Minn). METHODS: A total of 240 patients with atrial septal defect (ASD) secundum were examined by transthoracic 2-dimensional echocardiography (TTE) and TEE to determine the ASD morphologic features, diameter, and rims. During transcatheter closure TEE was used for determination of the ASD diameter and guidance of the ASO implantation. RESULTS: Sixteen (6%) patients were found not suitable for transcatheter closure with TTE, 35 (14%) with TEE, and 2 during catheterization. Twenty-eight patients (18%) had partial or total deficiency of the posterior, inferoanterior, or inferoposterior rim, 54 (27%) had a centrally positioned ASD, 92 (46%) had insufficient superoanterior rim, and 9 had multiple ASDs, whereas 8 had a septal aneurysm associated with a single defect and 4 a multiperforated aneurysm. A total of 170 patients underwent implantation of ASO. The ASO was correctly positioned in 144 at the first attempt. In the remainder TEE revealed unstable position of the left atrial disk (12), opening of both atrial disks in the left atrium (5), deployment of the device through the smaller defect in patients with multiple ASDs (3), and, in 1 patient, the device was too small and had to be replaced by a larger one. CONCLUSIONS: Morphologic variations of the ASD are common. TEE is crucial for the determination of the ASD morphologic features, diameter, and rims, which are crucial for proper patient selection. TEE allows precise guiding and positioning of the ASO, which is essential for safe and effective transcatheter ASD closure.

Adolescent↗
PubMed2004

Does acute stress disorder predict post-traumatic stress disorder in traffic accident victims? Analysis of a self-report inventory.

The objective of this study was to account for acute stress disorder (ASD) and post-traumatic stress disorder (PTSD) morbidity in a self-report survey of traffic accident victims and to evaluate the relationship between ASD and PTSD in this sample, and furthermore, to find both a model of independent variables accounting for variance in ASD and PTSD symptom level. Ninety patients, treated at an emergency ward after traffic accidents, participated in this longitudinal self-report survey. ASD was assessed using the Acute Stress Disorder Scale (ASDS) and PTSD was assessed at 6-8 months follow-up using the Posttraumatic Diagnostic Scale (PDS). Twenty-five patients (28%) met the cutoff scores for ASDS. Fifteen patients (17%) fulfilled criteria for PTSD according to the PDS. ASD was only able to predict 50% of patients who later developed high levels of PTSD symptomatology. A model of three variables explained 35% of the variance in ASD symptom level. Two variables explained 40% of the variance in PTSD symptom level. In both regression models, dissatisfaction with social support was associated with a higher symptom level. The results from this study reflect already voiced problems with the ASD diagnosis. The lack of precision in predicting who will develop PTSD is pronounced in this study. The acute traumatic symptom level explains a large part of the variance in PTSD symptom level. However, other variables also seem to play an important role.

Accidents, Traffic↗
PubMedDate not supplied

Conversational repair in speakers with autism spectrum disorder.

BACKGROUND: The ability to repair communicative breakdown is an important pragmatic language skill, yet very little is known about it in the population of children with autism spectrum disorder (ASD). Previous investigations have shown that people with ASD, across a variety of ages and language levels, recognized communicative breakdown and responded to requests for clarification (RQCLs) with a wide variety of repair strategies. No previous work has assessed the repair abilities of speakers with ASD when faced with a persistent communicative breakdown indicated by a stacked series of RQCLs. AIMS: The present paper aimed to determine whether school-aged, high-functioning children with ASD responded to a stacked series of RQCLs in a way similar to children matched for language age. METHODS & PROCEDURES: Nine school-aged, high-functioning children with ASD were recruited and matched to nine control group children based on language level. During conversation, an unfamiliar examiner engineered 10 episodes of communicative breakdown. Each consisted of a stacked series of three RQCLs ('What?', 'I don't understand', 'Tell me another way'). Verbal and non-verbal responses to each RQCL were coded. Responses were analysed by a series of repeated measures analyses of variance with diagnostic group and RQCL type/position as independent variables and type of repair as the dependent variable. OUTCOMES & RESULTS: Children with ASD were similar to language age-matched control children in responding to RQCLs and employing a variety of repair strategies. In addition, their pattern of responding over the series of RQCLs was very similar to the controls in varying the repair strategy by adding increasingly more information as the breakdown persisted, i.e. as the sequence of RQCLs progressed. Children with ASD, however, were significantly more likely than language age-matched controls to respond to an RQCL with an inappropriate response. CONCLUSIONS: The ability to repair communicative breakdown successfully raises questions about some of the currently popular theories about the source and nature of social and communicative deficits in autism. In addition, the presence of significantly more inappropriate utterances in the group with ASD poses both theoretical and clinical challenges. In theoretical terms, several possible explanations are proposed, but future work will need to test these hypotheses. Clinically, it is important to focus on utterances that disrupt the conversational flow and that generate severe social penalties for the speaker with ASD.

Analysis of Variance↗
PubMed2006

Patients' views on dyspepsia and acid suppressant drug therapy in general practice.

OBJECTIVES: To do an inventory on the opinion of long-term acid suppressant drug (ASD) users on their condition and drug treatment, and from that angle to reflect on possibilities to reduce usage and costs of long-term acid suppressant drug therapy. METHODS: In the year 2001, in seven general practices, patients who chronically used ASDs without proper indication were identified. A postal questionnaire based on the literature was sent to these patients (n=498). RESULTS: 318 (64%) returned questionnaires were fit for analysis. Patients experienced dyspepsia as unpleasant and restraining, and were extremely positive about ASDs without differences between H2-receptor antagonists (H2RAs) and proton pump inhibitors (PPIs). ASD use was very compliant. Patients smoked and drank less than the normal population. They did not continue unhealthy habits simply because ASDs enable them to. Most patients were not motivated to stop their ASDs. CONCLUSION: Dyspeptic complaints should not be underestimated. Improving lifestyle is not likely to generate much effect on ASD use. Due to a lack of motivation, discontinuing long-term ASD use may not be an efficient way to reduce the use and costs of ASDs. Patient-centred possibilities are prescribing H2RAs instead of PPIs as a first step, as they are perceived by patients to be equally effective, and encouraging patients to self-regulate drug treatment through on-demand regimes.

Aged↗
PubMed2006

Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation.

Fragile X syndrome (FXS) is caused by a full mutation expansion (>200 CGG repeats) in the FMR1 gene that results in a deficiency of the fragile X mental retardation protein. Although most individuals with the premutation (55-200 CGG repeats) are considered unaffected by FXS, recent case studies have documented children with the premutation who have cognitive deficits, behavioral problems, and/or autism spectrum disorders. The objective of this study was to compare the prevalence of autism spectrum disorders (ASD) and attention-deficit hyperactivity disorder (ADHD) symptoms in boys with the premutation who presented as probands, in brothers with the premutation who did not present as probands, and in normal brothers of premutation and/or full mutation carriers. Participants included 43 male children: 14 probands who presented to clinic, 13 nonprobands who were identified through cascade testing (routine genetic testing of family members after identification of a proband) and confirmed to have the premutation, and a control group of 16 male siblings of individuals with the fragile X premutation or full mutation who were negative for the FMR1 mutation. Participants came from 1 of 2 collaborative sites: University of California, Davis and La Trobe University in Australia. Parents completed the Conners' Global Index-Parent Version for assessing symptoms of ADHD and the Social Communication Questionnaire (SCQ) for identifying symptoms of ASD. Children who were in the ASD range on the SCQ (n = 13) underwent further evaluation with either the Autism Diagnostic Observation Schedule-Generic (n = 10) or the Autism Diagnostic Interview-Revised (n = 3). A final diagnosis of ASD included clinical assessment utilizing DSM-IV-TR criteria in addition to the standardized assessments. There was a higher rate of ASD in boys with the premutation presenting as probands (p < 0.001) or nonprobands (p < .04) compared with sibling controls without the premutation. In addition, probands had a significant increase in ADHD symptoms compared with controls (p < .0001). Of the probands, 93% had symptoms of ADHD and 79% had ASD. In the nonproband premutation group, 38% had symptoms of ADHD and 8% had ASD. Thirteen percent of sibling controls had symptoms of ADHD and none had ASD. IQ scores were similar in all 3 groups (p = .13), but the use of psychotropic medications was significantly higher in probands with the premutation compared with that in controls (p < .0001). Developmental problems have been observed in premutation carriers, particularly those who present clinically with behavioral difficulties. Although this study is based on a small sample size, it suggests that premutation carriers, even those who do not present clinically, may be at increased risk for an ASD and/or symptoms of ADHD. If the premutation is identified through cascade testing, then further assessment should be carried out for symptoms of ADHD, social deficits, or learning disabilities.

Adolescent↗