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PubMed2006

Mothers' attributions following their child's diagnosis of autistic spectrum disorder: exploring links with maternal levels of stress,depression and expectations about their child's future.

Although the impact of autism spectrum disorders (ASDs) on the family is well recognized, the way mothers attempt to make sense of the diagnosis is largely unexplored. However, in other disabilities, attributions have been shown to predict a variety of outcomes including maternal wellbeing and engagement in treatment. Using Weiner's (1985) three-dimensional model, 16 mothers were interviewed to examine the nature and impact of their beliefs about their child's ASD using semi-structured interviews and measures of depression, parenting stress and expectations for their child's future. The findings suggested that mothers made a diverse and complex range of attributions that were consistent with Weiner's dimensions of locus of cause, stability and controllability. The nature of their attributions reflected particular difficulties associated with ASDs, such as uncertainties regarding cause and prognosis. Taking account of mothers' search for meaning will better enable professionals to support families following diagnosis.

Adult↗
PubMedDate not supplied

Assessment of interventricular septal motion using colour tissue Doppler imaging in adult patients with atrial septal defect.

We aimed to characterize changes in interventricular septum (IVS) motion and any relationship between them and the pulmonary-to-systemic flow ratio (Qp/Qs) in adult patients with atrial septal defect (ASD). Patients and controls were studied using colour tissue Doppler imaging (TDI). The septum length (SL) and distance from the colour change point (CCP) on the IVS to the aortic valve (the CCP distance) were measured on parasternal long axis views. Values normalized for body surface area, and the CCP distance to SL ratio, were calculated. Qp/Qs values were correlated with CCP distance, normalized CCP distance and CCP distance:SL ratio. Statistically significant differences in CCP distance, normalized CCP distance and CCP distance:SL ratio were found between the two groups. In the ASD group, there was no correlation between Qp/Qs and the echocardiographic measurements. The point between the motions in two different directions from the IVS shifted toward the apex in ASD patients compared with controls, and may be a mechanism involved in paradoxical septal motion.

Adult↗
PubMed2025

Multi-omics reveals cross-tissue regulatory mechanisms of autism risk loci via gut microbiota-immunity-brain axis.

Autism Spectrum Disorder (ASD) involves a multi-system interaction mechanism among genetics, immunity, and gut microbiota, yet its regulatory network remains undefined. This study conducted a meta-analysis on Genome-Wide Association Study data from four independent ASD cohorts to identify potential genetic loci. By integrating Polygenic Priority Score, brain region, and brain cell eQTL enrichment analyses, and combining summary-data-based Mendelian Randomisation (SMR) analyses of brain cis-eQTL and mQTL, bidirectional Mendelian Randomisation analyses of 473 gut microbiota, and SMR analysis of blood eQTL, SNPs such as rs2735307 and rs989134 with significant multi-dimensional associations were identified. These loci exert cross-tissue regulatory effects by participating in gut microbiota regulation, involving immune pathways such as T cell receptor signal activation and neutrophil extracellular trap formation, as well as cis-regulating neurodevelopmental genes (HMGN1 and H3C9P), or synergistically influencing epigenetic methylation modifications to regulate the expression of BRWD1 and ABT1. The cross-scale evidence chain constructed in this study provides a theoretical foundation for precision medicine research in ASD, holding promise to advance the development of innovative therapeutic strategies.

Autism spectrum disorder↗
PubMed2005

Evidence-based assessment of autism spectrum disorders in children and adolescents.

This article reviews evidence-based criteria that can guide practitioners in the selection, use, and interpretation of assessment tools for autism spectrum disorders (ASD). As Mash and Hunsley (2005) discuss in this special section, evidence-based assessment tools not only demonstrate adequate psychometric qualities, but also have relevance to the delivery of services to individuals with the disorder (see also Hayes, Nelson, & Jarrett, 1987). Thus, we use what is known about the symptoms, etiologies, developmental course, and outcome of ASD to evaluate the utility of particular assessment strategies and instruments for diagnosis, treatment planning and monitoring, and evaluation of outcome. The article begins with a review of relevant research on ASD. Next we provide an overview of the assessment process and some important issues that must be considered. We then describe the components of a core (minimum) assessment battery, followed by additional domains that might be considered in a more comprehensive assessment. Domains covered include core autism symptomatology, intelligence, language, adaptive behavior, neuropsychological functions, comorbid psychiatric illnesses, and contextual factors (e.g., parent well-being, family functioning, quality of life). We end with a discussion of how well the extant literature meets criteria for evidence-based assessments.

Achievement↗
PubMed2004

A particular phenotype in a girl with aldosterone synthase deficiency.

Aldosterone synthase deficiency (ASD) usually presents in infancy as a life-threatening electrolyte imbalance. A 4-wk-old child of unrelated parents was examined for failure to thrive and salt-wasting. Notable laboratory findings were hyperkalemia, high plasma renin, and low-normal aldosterone levels. Urinary metabolite ratios of corticosterone/18-hydroxycorticosterone and 18-hydroxycorticosterone/aldosterone were intermediate between ASD type I and type II. Sequence analysis of CYP11B2, the gene encoding aldosterone synthase (P450c11AS), revealed that the patient was a compound heterozygote carrying a previously described mutation located in exon 4 causing a premature stop codon (E255X) and a further, novel mutation in exon 5 that also causes a premature stop codon (Q272X). The patient's unaffected father was a heterozygous carrier of the E255X mutation, whereas the unaffected mother was a heterozygous carrier of the Q272X mutation. Therefore, the patient's CYP11B2 encodes two truncated forms of aldosterone synthase predicted to be inactive because they lack critical active site residues as well as the heme-binding site. This case of ASD is of particular interest because despite the apparent lack of aldosterone synthase activity, the patient displays low-normal aldosterone levels, thus raising the question of its source.

Binding Sites↗
PubMed2006

Gray matter abnormalities in autism spectrum disorder revealed by T2 relaxation.

OBJECTIVE: To perform quantitative T2 relaxation measurements to evaluate cerebral water content in children with autism. METHODS: Sixty 2- to 4-year-old children with autism spectrum disorder (ASD), 16 age-matched children with idiopathic developmental delay (DD), and 10 children with typical development (TD) were scanned on a 1.5 T GE MRI scanner to obtain dual-echo fast spin echo images (2.5 mm thick, 0-mm gap). Images were segmented into gray and white matter and used to mask regions of interest for calculating T2 for each tissue type. Analysis of variance, covarying for age and sex, was used to compare T2 between groups, and correlations were used to compare T2 to IQ measures. RESULTS: Children with ASD had prolonged cortical gray matter T2, but white matter T2 was not significantly different, compared with the children with TD. T2 was prolonged in cortical gray matter and white matter in children with DD compared with children with ASD or TD. Significant interactions between T2 measures and IQ were not observed. CONCLUSIONS: Prolonged gray and white matter T2 in the children with developmental delay likely represents a delay in neuronal development and maturation. Prolonged T2 in gray matter, but not white matter, observed in children with autism spectrum disorder may signify abnormal developmental processes specific to autism.

Autistic Disorder↗
PubMed2002

Novel point mutation in the cardiac transcription factor CSX/NKX2.5 associated with congenital heart disease.

The homeobox transcription factor CSX/NKX2.5, which is a vertebrate homologue of the Drosophila gene tinman, is essential for cardiac development. It is expressed in the early cardiac mesoderm and in heart muscle lineage throughout life. Homozygous deletion of CSX/NKX2.5 causes early embryonic lethality in mice because cardiac development is arrested at the linear heart tube stage. Heterozygous mutation of human CSX/NKX2.5 has been associated with various congenital heart diseases such as atrial septal defect (ASD), ventricular septal defect, tetralogy of Fallot, and tricuspid valve abnormalities, including Ebstein's anomaly. Additionally, CSX/NKX2.5 mutation causes atrioventricular (AV) conduction block with or without associated congenital heart diseases. Ten different heterozygous mutations have been already reported and a new point mutation, which is a C-to-A transition (Cys264ter) at nucleotide 901 of CSX/NKX2.5, results in the production of a truncated protein occurring COOH-terminal to the homeodomain of CSX/NKX2.5. The mutation was found in a patient with familial ASD and first-degree AV block; 4 members from 3 generations had secundum-type ASD and first-degree AV block.

Cysteine↗
PubMed2003

Platypnea - orthodeoxia syndrome with atrial septal defect.

A 75-year old man was referred to hospital for symptomatic hypoxemia. He did not complain of dyspnea while supine, but while sitting or standing, he experienced dyspnea with severe hypoxemia. He did not have any pulmonary diseases that could cause dyspnea. Transesophageal echocardiography revealed an atrial septal aneurysm with a small atrial septal defect (ASD) and a mild left-to-right shunt through the ASD when the patient was supine. However, when he became upright, a severe right-to-left shunt occurred and the arterial oxygen saturation decreased from 96% to 80% with dyspnea. Cardiac catheterization revealed normal pulmonary artery pressure. He was therefore diagnosed as having platypnea - orthodeoxia syndrome. Magnetic resonance imaging of the chest showed a deformity of the atrium associated with elongation of the ascending aorta. The ASD was closed surgically and the dyspnea and hypoxemia that occurred while he was upright completely resolved.

Aged↗
PubMed2006

Hemodynamic consequences of a swinging, infarcted ventricular septum.

Noonan syndrome presents with dysmorphic facial features, short stature, and cardiac abnormalities (most commonly pulmonic stenosis and hypertrophic cardiomyopathy). This report describes a rare case accompanied by a secundum atrial septal defect (ASD) and a ventricular septal aneurysm causing right ventricular (RV) pressure gradient. A 29-year-old mentally retarded man was admitted to hospital with exertional dyspnea. His somatic features included short stature (148 cm), hypertelorism, a shield chest, and thoracic scoliosis. Echocardiogram showed a secundum ASD with bidirectional shunting and a ventricular septum bulging toward the left ventricle in diastole, and then toward the RV in systole causing obliteration of the RV. The peak pressure gradient measured across the RV outflow by continuous wave Doppler was 30 mmHg. Cardiac catheterization revealed an elevated RV pressure without pulmonary hypertension and confirmed the pressure gradient. Right ventriculography revealed the septal excursion toward the RV in systole, leaving only a small residual cavity in the inflow and outflow regions of the RV. The ASD was closed with an autologous pericardial patch. A thin, fibrous portion of the ventricular septum was resected and replaced with a Dacron patch. From the histological examination, the RV cavity obliteration turned out to be produced by the excursion of the infarcted ventricular septum.

Abnormalities, Multiple↗
PubMed1981

Long-term results of operated and non-operated patients with congenital heart diseases.

The long-term results of 1023 adult patients with congenital heart diseases, operated and non-operated, with atrial septal defect (ASD), patent ductus arteriosus (PDA), pulmonary stenosis (PS) and tetralogy of Fallot, were followed for up to 24 years, and the long-term results of operated and non-operated congenital heart diseases were compared. The survival rate of patients with operated isolated ASD was significantly higher than in patients with non-operated isolated ASD, and that of operated patients with VSD associated with other anomalies was also significantly higher than in non-operated VSD patients with such involvement. The survival rate showed no significant difference in the operated and non-operated patients with PDA, PS and tetralogy of Fallot. In all congenital heart diseases, there was a close correlation between the mean pulmonary artery pressure and the mortality rate both in operated and non-operated patients and a marked improvement of physical capacity of operated patients at the time of the last follow-up examination.

Adolescent↗
PubMed1990

Changes in the pulmonary vascular input impedance in patients with atrial septal defect after surgical correction.

In order to evaluate whether there is pulmonary vascular disease in patients with atrial septal defect (ASD), we used the pulmonary vascular input impedance to estimate the stiffness of the pulmonary vessels with before and after surgical intervention. Ten control subjects and 11 patients with ASD (9 operable and 2 inoperable) were examined. In preoperative patients the decreased total pulmonary resistance (Rin) and pulmonary vascular resistance appeared to open new parallel vascular channels with increased blood flow. Further, there were no significant differences in the pulmonary vascular input impedance spectrum and phase, and characteristic impedance among control subjects, preoperative and postoperative patients. Although distensibility of the pulmonary vascular wall in operable patients was similar to that in control subjects, an excessive elevation in Rin and input impedance modulus was observed in inoperable patients. The results demonstrate that the normal input impedance spectrum and phase in patients with ASD is predictive of a good prognosis after successful surgical correction.

Adolescent↗
PubMed2006

Autism spectrum disorders in relation to distribution of hazardous air pollutants in the san francisco bay area.

OBJECTIVE: To explore possible associations between autism spectrum disorders (ASD) and environmental exposures, we linked the California autism surveillance system to estimated hazardous air pollutant (HAP) concentrations compiled by the U.S. Environmental Protection Agency. METHODS: Subjects included 284 children with ASD and 657 controls, born in 1994 in the San Francisco Bay area. We assigned exposure level by census tract of birth residence for 19 chemicals we identified as potential neurotoxicants, developmental toxicants, and/or endocrine disruptors from the 1996 HAPs database. Because concentrations of many of these were highly correlated, we combined the chemicals into mechanistic and structural groups, calculating summary index scores. We calculated ASD risk in the upper quartiles of these group scores or individual chemical concentrations compared with below the median, adjusting for demographic factors. RESULTS: The adjusted odds ratios (AORs) were elevated by 50% in the top quartile of chlorinated solvents and heavy metals [95% confidence intervals (CIs) , 1.1-2.1], but not for aromatic solvents. Adjusting for these three groups simultaneously led to decreased risks for the solvents and increased risk for metals (AORs for metals: fourth quartile = 1.7 ; 95% CI, 1.0-3.0 ; third quartile = 1.95 ; 95% CI, 1.2-3.1) . The individual compounds that contributed most to these associations included mercury, cadmium, nickel, trichloroethylene, and vinyl chloride. CONCLUSIONS: Our results suggest a potential association between autism and estimated metal concentrations, and possibly solvents, in ambient air around the birth residence, requiring confirmation and more refined exposure assessment in future studies.

Air Pollutants↗
PubMed2002

Characterization and efficacy of PKH26 as a probe to study the replication history of the human hematopoietic KG1a progenitor cell line.

The PKH26 dye can, in principle, be used for the study of asymmetric cell divisions (ASDs). A requirement for the identification of ASDs based on fluorescence intensity is that the PKH26 dye is distributed equally between daughter cells at each division, but this has not been demonstrated at a single-cell level. The efficacy of PKH26 as a probe for the study of ASDs was examined using the human hematopoietic KG1a cell. An automated time-lapse fluorescent microscope system was used to determine changes in cell size and fluorescence intensity during culture, and track cell divisions. The images of daughter cells were analyzed using the Isee software to determine the distribution of PKH26 dye between daughter cells. Ratios of cell size, mean fluorescence intensity, and total fluorescence intensity were calculated by dividing the values for one daughter cell by the value of the other daughter cell. The ratios for cell size, mean intensity, and total intensity were 1.13 +/- 0.12, 1.08 +/- 0.07, and 1.15 +/- 0.14 (mean +/- SD), respectively. Thus, PKH26 is not distributed equally to both daughter cells upon cell division. However, the replication history of individual KG1a cells can be reliably deduced for up to three divisions based solely on the mean and total fluorescence intensity of the PKH26 dye, using PKH26 concentrations below the chemical and phototoxic limits (2 microM).

Cell Division↗
PubMed1986

Pulmonary vascular disease in secundum atrial septal defect with pulmonary hypertension.

Histopathologic and morphometric studies of small pulmonary arteries were performed in 16 cases of secundum atrial septal defect (ASD) and severe pulmonary hypertension. Besides typical plexogenic arteriopathies found in six cases, organized microthrombi and what we call "musculoelastosis," that is, proliferation of longitudinal smooth muscle bundles and elastic fibers, were seen in small pulmonary arteries in three and four cases, respectively. These changes were observed co-existing in the remaining three cases. Thrombi of the small pulmonary arteries and musculoelastosis were the forms of pulmonary vascular disease characteristically found in the older patients with both ASD and pulmonary hypertension. Yamaki's index of pulmonary vascular disease, though effective in describing severity of plexogenic arteriopathy, proved to be less so for the intimal lesions in old microthrombi and for musculoelastosis. Among the cases with plexogenic arteriopathy, there was a positive significant correlation between the medial thickness of small pulmonary arteries and peak arterial pressure, which, however, was not demonstrated when all the cases of ASD were included.

Adult↗
PubMed1990

Abnormal hemodynamic response to Valsalva maneuver in patients with atrial septal defect evaluated by Doppler echocardiography.

Hemodynamic responses to the Valsalva maneuver were studied in eight healthy subjects (group 1) and eight patients with ASD (group 2) using Doppler echocardiography. The acute changes of aortic blood flow profiles during the Valsalva maneuver were investigated on a basis of beat-to-beat estimation. During the active strain phase (phase 2), group 1 showed a significant decrease in systolic blood pressure, SV and CO with reflex tachycardia; in group 2, there was a significant decrease in SV and CO with reflex tachycardia, but not systolic blood pressure. The percentage decreases in SV and CO in group 2 were significantly less than those in group 1 (23 +/- 16 percent vs 48 +/- 10 percent for SV, p less than 0.01; 17 +/- 12 percent vs 40 +/- 13 percent for CO, p less than 0.05). After release of strain phase (phase 4), group 1 showed significant reversed changes in systolic blood pressure, SV and heart rate, indicating an overshoot effect which was, however, not observed in group 2. Thus, patients with ASD presented abnormal Valsalva response which was characterized by the absence of phase 4 overshoot and a less marked phase 2 change. The findings suggest that the decremental effect of impaired venous return on stroke output during active strain may be attenuated by the increased pulmonary blood volume due to left-to-right shunt. In patients with ASD, the lesser decrement of CO during phase 2 may not provoke sufficient sympathetic activity to induce overshoot response in phase 4.

Adult↗
PubMed1990

[Comprehensive approach to clinical background and effect of bromocriptine administration in patients with endocrinological polycystic ovarian disease].

Present study was performed to elucidate the clinical features and the treatment of so-called endocrinological polycystic ovarian disease (PCO). 36 cases out of 189 infertile patients who had various ovulatory disturbances were subjected during past four years. They were selected by the definitions as follows; 1) serum LH levels greater than or equal to 30 mIU/ml and serum FSH levels less than or equal to 15 mIU/ml, 2) hyper-response of LH secretion by LH-RH (100 micrograms) loading test; maximum values greater than or equal to 250 mIU/ml. Serum androstenedione (ASD), dehydroepiandrosterone-sulfate (DHA-S), estrone (E1), estradiol (E2), progesterone (P, in the mid-luteal phase) and testosterone (T) levels were examined by RIA method for the purpose of the evaluation of the endocrinological background of the PCO in Japanese women. The same examinations were also done in 8 volunteer women who had normal ovulatory menstrual cycles for the control study. In 6 cases of the PCO patients who showed biphasic BBT charts, the endometrial biopsy was done in the mid-luteal phase at the same time of the blood sampling. And the correlation between various serum hormone levels and the endometrial morphology in the PCO patients was also discussed. Then bromocriptine (5 mg/day) was administered in these patients for more than 30 days and the effect of the treatment was investigated. Serum ASD levels in the PCO patients were significantly higher than those in the control (2.52 +/- 1.30 vs. 1.43 +/- 1.21 ng/ml, M +/- S.D., p less than 0.05), while serum E2 and P levels in the patients were significantly lower than those in the control (E2: 118.6 +/- 39.5 vs. 192.5 +/- 53.9 pg/ml, p less than 0.005. P: 7.26 +/- 5.08 vs. 124.4 +/- 4.6 ng/ml, p less than 0.005, respectively). There were no significant differences in serum levels of the other hormones. By the administration of bromocriptine, serum ASD levels decreased (1.62 +/- 1.34 ng/ml, p less than 0.05), and E2 (177.9 +/- 48.6 pg/ml, p less than 0.025) and P (11.8 +/- 4.3 ng/ml, p less than 0.005) levels increased significantly into the levels of control. Serum LH levels of the patients were also suppressed by the treatment of bromocriptine (42.5 +/- 13.7 vs. 27.4 +/- 12.0 mIU/ml, p less than 0.005), however there was no change in serum FSH levels.(ABSTRACT TRUNCATED AT 400 WORDS)

Adult↗
PubMed2003

Repair of atrial septal defect through a limited right anterolateral thoracotomy in 242 patients: a cosmetic approach?

BACKGROUND: The repair of atrial septal defects (ASD) is often safely performed as a routine procedure in the young and asymptomatic patient. The purpose of this study is to evaluate the feasibility and especially the cosmetic result of this repair performed through a limited right anterolateral thoracotomy (RALT), with the complete cannulation and aortic cross-clamping conducted through the same incision. METHODS: From January 1980 to June 2001 in our hospital, 242 patients (210 female) with atrial septal defects and a mean age of 26.2 +/- 12.0 years underwent operations through a RALT. Repaired defects included 235 ostium secundum defects and 7 sinus venosus defects with partial anomalous pulmonary venous connection (SV). Patients were contacted by phone to evaluate their satisfaction with the thoracic scar. RESULTS: There was neither operative nor early mortality. All of the mentioned defects were successfully corrected. Mean bypass times were 12.37 +/- 4.9 minutes for ASD defects and 47.5 +/- 6.4 minutes for SV defects. The mean stay in the intensive care unit was 1.3 +/- 0.5 days. Most of the patients (86.3%) were fully satisfied with the cosmetic result. CONCLUSIONS: The right anterolateral thoracotomy incision provides a safe and effective approach for the correction of the ASD. This approach can be safely performed without any new instruments and without peripheral incisions, provides good exposure for the surgeon to work comfortably, and achieves a cosmetically superior result in selected cases.

Adolescent↗
PubMed1980

Balloon catheter test in patients with atrial septal defect and patent ductus arteriosus.

Since 1973, the balloon catheter test with a Swan-Ganz, Dotter-Lukas or Fogarty catheter has been attempted in our department in cases of atrial septal defect (ASD) and patent ductus arteriosus (PDA) during cardiac catheterization and operation. Accurate informations concerning size, number and location of ASD were obtained during cardiac catheterization studies by using the balloon catheter. The difference between the size of the defect measured at catheterization and at operation was less than 1 mm in diameter. Size of the defect ranged from 13 to 44 mm in diameter (25.7 mm on the average) and bacame larger with patient's age. Measurement of left-to-right shunt ratios before and after the temporary balloon occlusion of the defect was of help in making a preoperative diagnosis of ASD with multiple defects. Size of foramen ovale ranged from 3 to 13 mm in diameter (5.2 mm on the average) and was not related to age. Size of the ductus in cases with PDA was measured during cardiac catheterization by using the balloon catheter. The difference between the size of the ductus measured with the balloon technique at catheterization and with a measuring rule at operation was less than 4 mm in diameter. The difference revealed the extensibility of the ductus. The temporary balloon occlusion of the ductus aided in determining presence of other cardiac anomalies. In cases of isolated PDA, the murmur became inaudible with the occlusion of the ductus. A balloon catheter inflated with radiopaque dye was used for measurements at cardiac catheterization and at operation. Persistent arrhythmias or other adverse effects of this procedure were not observed.

Adolescent↗