Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “ASD”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 379 records · Page 21Linked to original sources
PubMed2007

Abnormal activation of the social brain during face perception in autism.

ASD involves a fundamental impairment in processing social-communicative information from faces. Several recent studies have challenged earlier findings that individuals with autism spectrum disorder (ASD) have no activation of the fusiform gyrus (fusiform face area, FFA) when viewing faces. In this study, we examined activation to faces in the broader network of face-processing modules that comprise what is known as the social brain. Using 3T functional resonance imaging, we measured BOLD signal changes in 10 ASD subjects and 7 healthy controls passively viewing nonemotional faces. We replicated our original findings of significant activation of face identity-processing areas (FFA and inferior occipital gyrus, IOG) in ASD. However, in addition, we identified hypoactivation in a more widely distributed network of brain areas involved in face processing [including the right amygdala, inferior frontal cortex (IFC), superior temporal sulcus (STS), and face-related somatosensory and premotor cortex]. In ASD, we found functional correlations between a subgroup of areas in the social brain that belong to the mirror neuron system (IFC, STS) and other face-processing areas. The severity of the social symptoms measured by the Autism Diagnostic Observation Schedule was correlated with the right IFC cortical thickness and with functional activation in that area. When viewing faces, adults with ASD show atypical patterns of activation in regions forming the broader face-processing network and social brain, outside the core FFA and IOG regions. These patterns suggest that areas belonging to the mirror neuron system are involved in the face-processing disturbances in ASD.

Adult↗
PubMed2026

Clinical Utility of Trio Exome Sequencing in Rwandan Children With Autism Spectrum Disorder.

INTRODUCTION: Autism spectrum disorder (ASD) is a neurodevelopmental condition with substantial genetic and phenotypic heterogeneity. However, populations of African ancestry remain underrepresented in genomic studies, limiting understanding of ASD genetic architecture. This study aimed to characterize rare, clinically relevant genetic variants in a Rwandan pediatric ASD cohort using trio-based whole-exome sequencing (WES). METHODS: Trio-based WES was performed in 31 Rwandan pediatric patients with ASD (aged 2-18 years) and their parents. Variants were analyzed using a trio-based workflow and classified according to American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines. RESULTS: Eleven candidate variants were identified in 9 of 31 patients, including four likely pathogenic variants and seven variants of uncertain significance. This resulted in a diagnostic yield of 12.9% (4/31), expanded to 29.0% when phenotypically concordant variants of uncertain significance were considered. Most likely pathogenic variants were identified in individuals with syndromic ASD who presented with intellectual disability, epilepsy, and global developmental delay. Likely pathogenic findings included two single nucleotide variants in GABRB3, SYNGAP1, and two copy-number variants involving the GNAS locus and chromosome 1p35.3-p35.2. CONCLUSIONS: The diagnostic yield observed in this cohort is consistent with previous trio-based WES studies of ASD. The findings support the clinical utility of WES for the genetic evaluation of ASD and underscore the need for expanded genomic studies in African populations.

Humans↗
PubMed1996

Image analysis of cellular DNA content in peritoneal fluid of patients with ovarian tumors of low malignant potential and invasive epithelial ovarian cancer.

Image analysis has rarely been used to quantitate the DNA content of intact cells derived from peritoneal fluid in patients with ovarian malignancy. An average of 118 (range 100-208) of the most atypical, visually selected Feulgen-stained cells in peritoneal fluid obtained from 46 patients undergoing primary cytoreductive surgery for histologically proven ovarian tumors of low malignant potential and truly invasive ovarian cancer were evaluated retrospectively using the SAMBA-4000 Image analysis system. The patients were stratified into 3 groups: 16 with ovarian tumors of low malignant potential (LMP), 14 with low-stage disease (LSD) (FIGO I and II), and 16 with advanced-stage (ASD) (FIGO III and IV). A pattern of high-degree aneuploidy with negative balance (means: LMP, 3.3; LSD, 20.5; ASD, 32.0), increased proliferative index (LMP, 11.2; LSD, 16.1; ASD, 13.9), and percentage of cells with DNA content greater than 5C (LMP, 6.7; LSD, 6.5; ASD, 9.5) was demonstrated in the peritoneal fluid of 8 of 16 patients with LMP (50%), 8 of 14 patients with LSD (57%), and 13 of 16 with ASD (81%). The median disease-free interval for patients with invasive epithelial ovarian cancer with peritoneal DNA diploid tumor cells was 57 months and for those with DNA aneuploid tumor cells 28 months, while in patients with LMP it was 65 and 54 months, respectively. In total, 19 patients developed a recurrence (LMP, 2; LSD, 5; ASD, 12) of which 17 were shown to have DNA aneuploid cells in the peritoneal fluid. Multivariate analysis, however, did not identify aneuploid population in the fluid, ploidy balance, proliferation indices, or degree of hyperploidy as an independently significant variable for predicting recurrence. It did appear, however, that tumor cells in peritoneal fluid with a degree of hyperploidy greater than 8 had a strong correlation for development of recurrence, although not statistically significant. Interactive image analysis of tumor cells in peritoneal fluid proved to be a valuable adjunct to cytodiagnosis. Seven of 28 patients (25%) who were underdiagnosed by cytology alone (LMP, 2; LSD, 3; ASD, 2) were shown to have malignant cells in their peritoneal fluid, while 2 of 18 patients (11%) who were called positive by cytology (LMP, 1; LSD, 1) showed diploid pattern histograms and upon review were interpreted as reactive mesothelial cells.

Adult↗
PubMed2002

Comparison of atrial septal defect closure using amplatzer septal occluder with surgery.

Our study reports the results of a comparison of closure of atrial septal defect (ASD) surgically with transcatheter closure using the Amplatzer septal occluder. Patients having an ASD and a surgical closure or transcatheter closure between January 1999 and July 2000 were selected. There were 103 patients who had ASD. All 64 patients in group 1 (surgery) had a successful operation, with only 2 patients with a mild residual shunt. There were 39 patients enrolled for transcatheter closure of the ASD (group 2). Four patients were excluded initially. The median age for group 1 was 25 years (range 2.3-64 years) compared to 11.7 years (range 2-69 years) in group 2 (p = 0.035). In group 1, the mean ASD diameter measured was 28.4 +/- 10.2 mm compared to 23.4 +/- 5.7 mm in group 2 (p = 0.003). In 29 patients, devices were deployed with sizes from 10 mm to 30 mm (median 24 mm). Three patients were excluded because a larger device (>30 mm) was not available and devices were not successfully deployed in another 3 patients. One patient had a device embolized into the right ventricle (surgical removal and closure of the ASD). Complications occurred in 13 patients in group 1 and 4 patients in group 2. Complete occlusion occurred in 27 of 28 group 2 patients (96.4%) during the follow-up period (10.2 +/- 5.4 months). The Amplatzer septal occluder is a new device for closure of different-sized ASDs. The intermediate-term follow-up demonstrated excellent closure results. The benefit for each patient was demonstrated in less morbidity and less time spent in the hospital.

Adolescent↗
PubMedDate not supplied

Spontaneous closure of atrial septal defects in premature vs. full-term neonates.

Our hypotheses were that the following factors influenced closure of atrial septal defects (ASDs) detected in neonates: estimated gestational age (EGA), the presence of a persistent ductus arteriosus (PDA), severity of pulmonary disease, gender, and the initial size of the ASD. Our population consisted of 82 newborns (38 premature and 44 term) who were found before the age of 1 month to have an ASD. Closure of ASDs was analyzed using both Kaplan-Meier survival analysis and the Cox proportional hazards model, each with the five covariates. The hazard ratio (or ratio of instantaneous closure rates) of term vs preterm infants was 3.60 (95% CI = 1.80-7.20), whereas the hazard ratio for infants with a PDA (compared to infants with no PDA) was 2.41 (95% CI = 1.28-4.54). Multivariate analysis showed that each of these terms (PDA and EGA) were independent predictors of ASD closure. The hazard ratio of ASD closure for each of four levels of pulmonary disease was 0.632 [95% CI = 0.453-0.881]. We conclude that the majority of neonatal ASDs will close, with EGA and PDA acting as important influences on closure.

Chi-Square Distribution↗
PubMedDate not supplied

Use of non-invasive phase contrast magnetic resonance imaging for estimation of atrial septal defect size and morphology: a comparison with transesophageal echo.

BACKGROUND: Transesophageal echocardiography (TEE) is a trusted method of sizing atrial septal defect (ASD) prior to percutaneous closure but is invasive, uncomfortable, and may carry a small risk of morbidity and mortality. Magnetic resonance imaging (MRI) may be useful non-invasive alternative in such patients who refuse or are unable to tolerate TEE and may provide additional information on the shape of the A0SD. PURPOSE: To validate the accuracy of ASD sizing by MRI compared with TEE. METHOD: Twelve patients (mean age 30 years; range 11-60 years) scheduled for ASD closure underwent TEE, cine balanced fast field echo MRI (bFFE-MRI) in four-chamber and sagittal views and phase-contrast MRI (PC-MRI) with reconstruction using the two orthogonal planes of T2-weighted images as planning. The average of the three longest measurements for all imaging modalities was calculated for each patient. RESULTS: Mean maximum ASD length on TEE was 18.8 +/- 4.6 mm, mean length by bFFE-MRI was 20.0 +/- 5.0 mm, and mean length by PC-MRI was 18.3 +/- 3.6 mm. The TEE measurement was significantly correlated with the bFFE-MRI and PC-MRI measurements (Pearson r = 0.69, p = 0.02 and r = 0.59, p = 0.04, respectively). The mean difference between TEE and bFFE-MRI measurements was -1.2mm (95% CI: -3.7, 1.3) and between TEE and PC-MRI was 0.5 mm (95% CI: -1.9, 2.9). Bland-Altman analysis also determined general agreement between both MRI methods and TEE. The ASDs were egg-shaped in two cases, circular in 1 patient and oval in the remaining patients. CONCLUSION: ASD sizing by MRI using bFFE and phase-contrast protocols correlated well with TEE estimations. PC-MRI provided additional information on ASD shapes and proximity to adjacent structures.

Adolescent↗
PubMed2006

Imitation and language abilities in adolescents with Autism Spectrum Disorder without language delay.

INTRODUCTION: Difficulties imitating gestures have been found in several studies in children and adolescents with Autism Spectrum Disorders (ASD). It has been hypothesized that imitation abilities might be precursors of language abilities in young children with autism. No study on imitation and language abilities in adolescents with ASD has been performed to date. METHODS: Fifteen male adolescents with ASD, 16 male and 13 female controls were compared regarding imitation abilities of upper and lower facial movements, and language skills as assessed by the pragmatic rating scale and the Aachen Aphasia test (AAT). RESULTS: Autism Spectrum Disorder subjects showed reduced imitation abilities of facial movements and non-meaningful combined hand-and-finger gestures. Regarding language, ASD subjects showed difficulties in AAT spontaneous speech measures and reduced pragmatic language abilities. Correlations of imitation and language measures differed between ASD, male and female controls. CONCLUSION: The weak and differential correlations of imitation and language measures in the three comparison groups might imply a differential organization of language and imitation networks in the three comparison groups. Pragmatic abilities, which are a central feature in ASD, were not related to imitation abilities. Therefore, imitation and language abilities in ASD might not be as closely correlated as previously expected.

Adolescent↗
PubMed2006

Story recall and narrative coherence of high-functioning children with autism spectrum disorders.

Previous research has found few quantitative differences between children with high-functioning autism spectrum disorders (ASDs) and well-matched controls in the length, complexity, and structure of their narratives. Researchers have noted, however, that narratives of children with ASDs have an unusual and idiosyncratic nature. This study provides an analysis of narratives in 17 children with high-functioning ASDs and 17 typically developing children matched on age, gender, language abilities, and cognitive abilities. We examined story recall and narrative coherence. The study revealed no group differences in story length or syntactic complexity. Children with ASDs also did not differ from controls in their use of the gist of a story to aid recall, or in their sensitivity to the importance of story events. Children with ASDs did, however, produce narratives that were significantly less coherent than the narratives of controls. Children with ASDs appeared less likely to use the gist of the story to organize their narratives coherently. These findings are discussed with regard to their relationship to other cognitive and linguistic difficulties of children with ASDs.

Adolescent↗
PubMed2006

Corpus callosum morphometrics in young children with autism spectrum disorder.

This study assessed midsagittal corpus callosum cross sectional areas in 3-4 year olds with autism spectrum disorder (ASD) compared to typically developing (TD) and developmentally delayed (DD) children. Though not different in absolute size compared to TD, ASD callosums were disproportionately small adjusted for increased ASD cerebral volume. ASD clinical subgroup analysis revealed greater proportional callosum reduction in the more severely affected autistic disorder (AD) than in pervasive developmental disorder-not otherwise specified (PDD-NOS) children. DD children had smaller absolute callosums than ASD and TD. Subregion analysis revealed widely distributed callosum differences between ASD and TD children. Results could reflect decreased inter-hemispheric connectivity or cerebral enlargement due to increase in tissues less represented in the corpus callosum in ASD.

Analysis of Variance↗
PubMed2007

A comparison of motor delays in young children: autism spectrum disorder, developmental delay, and developmental concerns.

This study assessed motor delay in young children 21-41 months of age with autism spectrum disorder (ASD), and compared motor scores in children with ASD to those of children without ASD. Fifty-six children (42 boys, 14 girls) were in three groups: children with ASD, children with developmental delay (DD), and children with developmental concerns without motor delay. Descriptive analysis showed all children with ASD had delays in gross motor skills, fine motor skills, or both. Children with ASD and children with DD showed significant impairments in motor development compared to children who had developmental concerns without motor delay. Motor scores of young children with ASD did not differ significantly on motor skill measures when compared to young children with DD.

Autistic Disorder↗
PubMed1999

Atrial Septal Defect.

The 1990s have seen considerable growth in our knowledge of outcomes in patients with atrial septal defect (ASD), improved techniques for imaging and diagnosing ASD, and advances in the treatment of ASD. Exciting new surgical procedures, such as minimally invasive surgery, the Cox-Maze procedure for patients with atrial fibrillation, and lung transplantation for patients with severe pulmonary artery hypertension, are now available. In my opinion, echocardiography is the procedure of choice for the diagnosis and characterization of ASD. Children and adults with ASD should undergo surgical repair unless there are contraindications. Surgical repair "early" in life prolongs survival and may prevent atrial fibrillation. Surgical repair in "older" adults prolongs survival and alleviates symptoms but will not abolish sustained or paroxysmal atrial fibrillation. Patients with ASD and atrial fibrillation (sustained or paroxysmal) should undergo surgical repair of ASD and a Cox-Maze procedure.

Journal Article↗
PubMed1984

Combined contrast echocardiographic and radionuclide diagnosis of atrial septal defect: accuracy of the technique and analysis of erroneous diagnoses.

The utility of combined peripheral vein contrast 2-dimensional echocardiography (2-D echo) and radionuclide shunt detection was evaluated in 25 patients with suspected atrial septal defect (ASD) in whom the diagnosis was confirmed at cardiac catheterization: 14 patients had ASD and 11 had no intracardiac shunt. Contrast 2-D echo correctly diagnosed 13 of 14 patients with ASD, but there were 2 false-positive diagnoses in the 11 patients without ASD. Radionuclide shunt studies correctly identified all 14 patients with ASD, but yielded 5 false-positives results among the 11 without ASD. After altering the radionuclide processing technique, there were only 2 of 11 false-positive shunt studies, and the correlation of radionuclide shunt magnitude with cardiac catheterization improved (r = 0.49, p less than 0.025 to r = 0.75, p less than 0.001). Thus, the improved processing method improved both the qualitative and quantitative accuracy of radionuclide shunt detection. The combination of contrast 2-D echo and radionuclide shunt detection led to a proper diagnostic and therapeutic decision in 24 of 25 patients. Therefore, these combined modalities are clinically useful in the evaluation of patients with suspected ASD.

Adolescent↗
PubMed1989

Natural course of atrial septal aneurysm in children and the potential for spontaneous closure of associated septal defect.

Atrial septum aneurysm (ASA), usually involving the region of the fossa ovalis, has rarely been described in children. In this study, the incidence and natural course of this anomaly were prospectively evaluated in 3,500 children referred for echocardiographic examination. ASA was found in 35 patients, 19 female and 16 male (1.0%). Patients were 6 years of age or younger at the time of diagnosis and 18 were neonates. None of the 750 children with normal echocardiograms had ASA. The most common associated lesion was atrial septal defect (ASD), which occurred in 24 of the 35 patients (69%). Other associated cardiac lesions were ventricular septal defect in 10, pulmonary stenosis in 5, patient ductus arteriosus in 4 and coarctation or interruption of the aorta with subaortic membrane in 2. No clinical complications were associated with ASA. Six patients with complex heart disease died. When associated with ASD, the direction of the ASA motion and that of the shunt found by Doppler echocardiography were similar. Fourteen patients with ASD were followed for 0.5 to 4 years. In 8 the ASD closed and in 6 the ASA disappeared. In 6 patients the ASD and ASA persisted until the end of the follow-up (p less than 0.01). Thus, the incidence of ASA in children in this series was higher than previously presumed and usually was associated with other cardiac anomalies, mainly ASD. In children, ASA tends to disappear with age and may have a role in spontaneous closure of associated ASD.

Abnormalities, Multiple↗
PubMed2005

Regional myocardial velocities and isovolumic contraction acceleration before and after device closure of atrial septal defects: a color tissue Doppler study.

BACKGROUND: The study analyzed the effect of atrial septal defect (ASD) device closure on regional wall motion in the right (RV) and left ventricles (LV) using color tissue Doppler imaging (TDI). Atrial septal defect closure results in acute volume unloading of the RV. For unknown reasons, some patients develop acute left-sided heart failure postintervention. METHODS: Color TDI was performed in 39 pediatric ASD and 75 age-matched controls. Regional wall motion in 5 LV and 1 RV segment were analyzed before, immediately after, and 24 hours after interventional ASD closure. Off-line postprocessing of echocardiographic data was used to determine myocardial velocities and acceleration during isovolumic contraction (IVA). Isovolumic contraction acceleration is the slope of the upstroke of the isovolumic contraction wave (IVA = peak velocity/acceleration time). RESULTS: At baseline, patients with ASD had significantly higher RV systolic velocities than controls. Isovolumic contraction acceleration was similar in patients with ASD and controls. In the catheterization laboratory postintervention, conventional function parameters remained stable but systolic myocardial velocities decreased significantly in all segments. Diastolic velocities fell in LV segments but not in the RV. In contrast to velocities, IVA was stable during ASD device closure. On follow-up at 24 hours, myocardial velocities had normalized. CONCLUSIONS: Device closure of ASD results to an acute transient decrease of regional myocardial velocities in the LV and RV, whereas the load-insensitive marker isovolumic acceleration remained stable. Therefore, the velocity changes may represent a response to altered left and right ventricular loading conditions. Color TDI is a sensitive tool to analyze ventricular mechanics.

Acceleration↗
PubMed2004

Early electrical and geometric changes after percutaneous closure of large atrial septal defect.

Cardiac arrhythmias and right chamber enlargement are well known long-term sequelae of atrial septal defect (ASD). Surgical ASD closure relieves patient symptoms but often fails to revert cardiac volume overload findings. Transcatheter ASD closure might be an attractive alternative to surgery, also because of the possibility to study the amount and time-course of the electro-geometric modifications following shunt disappearance. Between March 2000 and December 2002, 24 patients (age 22.7 +16.8 years) underwent percutaneous closure of large ASD (stretched diameter >20 mm and/or QP/QS ratio >1.5:1). ASD closure was performed with the Amplatzer Septal Occluder device (mean 25 +/- 7 mm), achieving a complete occlusion in all patients at 1 month. In 6 patients, right ventricular (RV) monophasic action potential was recorded during the procedure. All patients underwent standard 12-lead electrocardiography and transthoracic echocardiography before and at 24 hours and 1 month after ASD closure. After the procedure, monophasic action potential length increased from 359 +/- 27 to 372 +/- 27 ms (p <0.0001). At 1 month, QT dispersion decreased from 54 +/- 25 to 41 +/- 17 ms (p <0.05), RV diastolic diameter decreased from 42 +/- 6 to 34 +/- 5 mm (p <0.00001), and left ventricular (LV) diastolic diameter increased from 39 +/- 5 to 44 +/- 5 mm (p <0.0001), resulting in a decrease in the RV/LV ratio from 1.11 +/- 0.22 to 0.79 +/- 0.11 (-28.8%, p <0.00001). Electrocardiographic changes, as well as the amount and time-course of RV overload relief, did not significantly differ between pediatric (<16 years of age; n = 11) and adult patients (n = 13). In conclusion, regardless of age at procedure, percutaneous ASD closure results in early striking electrical and geometric cardiac changes that may be beneficial during long-term follow-up.

Action Potentials↗
PubMed2006

Brain activation during semantic processing in autism spectrum disorders via functional magnetic resonance imaging.

Language and communication deficits are core features of autism spectrum disorders (ASD), even in high-functioning adults with ASD. This study investigated brain activation patterns using functional magnetic resonance imaging in right-handed adult males with ASD and a control group, matched on age, handedness, and verbal IQ. Semantic processing in the controls produced robust activation in Broca's area (left inferior frontal gyrus) and in superior medial frontal gyrus and right cerebellum. The ASD group had substantially reduced Broca's activation, but increased left temporal (Wernicke's) activation. Furthermore, the ASD group showed diminished activation differences between concrete and abstract words, consistent with behavioral studies. The current study suggests Broca's area is a region of abnormal neurodevelopment in ASD, which may be linked with semantic and related language deficits frequently observed in ASD.

Adult↗
PubMed2006

Executive function deficits in autism spectrum disorders and attention-deficit/hyperactivity disorder: examining profiles across domains and ages.

Deficits in 'executive function' (EF) are characteristic of several clinical disorders, most notably Autism Spectrum Disorders (ASD) and Attention-Deficit/Hyperactivity Disorder (ADHD). In this study, age- and IQ-matched groups with ASD, ADHD, or typical development (TD) were compared on a battery of EF tasks tapping three core domains: response selection/inhibition, flexibility, and planning/working memory. Relations between EF, age and everyday difficulties (rated by parents and teachers) were also examined. Both clinical groups showed significant EF impairments compared with TD peers. The ADHD group showed greater inhibitory problems on a Go-no-Go task, while the ASD group was significantly worse on response selection/monitoring in a cognitive estimates task. Age-related improvements were clearer in ASD and TD than in ADHD. At older (but not younger) ages, the ASD group outperformed the ADHD group, performing as well as the TD group on many EF measures. EF scores were related to specific aspects of communicative and social adaptation, and negatively correlated with hyperactivity in ASD and TD. Within the present groups, the overall findings suggested less severe and persistent EF deficits in ASD (including Asperger Syndrome) than in ADHD.

Adolescent↗
PubMed2005

Neural correlates of executive function in autistic spectrum disorders.

BACKGROUND: Some clinical characteristics of high-functioning individuals with autistic spectrum disorder (ASD) such as repetitive stereotyped behaviors, perseveration, and obsessionality have been related to executive function (EF) deficits, more specifically to deficits in inhibitory control and set shifting and mediating frontostriatal neural pathways. However, to date, no functional imaging study on ASD has investigated inhibition and cognitive flexibility and no one has related EF brain activation to brain structure. METHODS: We compared brain activation (using functional magnetic resonance imaging) in 10 normal intelligence adults with ASD and 12 healthy control subjects during three different EF tasks: 1) motor-inhibition (GO/NO-GO); 2) cognitive interference-inhibition (spatial STROOP); and 3) set shifting (SWITCH). Using voxel-based morphometry, we investigated if cortical areas which were functionally different in people with ASD were also anatomically abnormal. RESULTS: Compared with control subjects, ASD individuals showed significantly increased brain activation in 1) left inferior and orbital frontal gyrus (motor-inhibition); 2) left insula (interference-inhibition); and 3) parietal lobes (set shifting). Moreover, in individuals with ASD, increased frontal gray matter density and increased functional activation shared the same anatomical location. CONCLUSIONS: Our findings suggest an association between successful completion of EF tasks and increased brain activation in people with ASD, which partially may be explained by differences in brain anatomy.

Adolescent↗