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At least 577 records · Page 32Linked to original sources
PubMed1991

[Two cases of atrial septal defect diagnosed by two-dimensional Doppler echocardiography: comparison with other methods for detecting atrial septal defect].

We describe two cases of atrial septal defect(ASD) diagnosed by chance with two-dimensional Doppler echocardiography(2DD) which was carried out for another purpose. There were no findings characteristic of ASD such as systolic murmurs in the pulmonary area, incomplete right bundle branch block pattern on electrocardiograms, increased hilar shadow on chest films or increased right ventricular chamber diameter in two-dimensional echocardiography. However, the 2DD showed blood flow crossing through the atrial septum. Cardiac catheterization confirmed the presence of a small ASD. ASD diagnosed by 2DD alone without other classical characteristic signs of ASD indicates that the ASD is small and clinically insignificant as it is with Doppler valvular heart disease.

Adult↗
PubMed1990

[Can atrial septal defects be reliably diagnosed by echocardiography?].

The diagnostic reliability of echocardiography (ECHO) was analyzed in a group of 179 children operated on account of an atrial septal defect (ASD) and partial anomalous pulmonary venous drainage (PAPVD). A total of 223 individual types of ASD and PAPVD and their mutual combinations were proved on operation. In all patients indirect signs of a left-to-right shunt at the atrial level was proved. The sensitivity and specificity of ECHO examinations in the ASD type fossa ovalis was 0.97 and 0.80 resp., in ASD type sinus venosus it was 0.47 and 0.98, in PAPVD 0.38 and 0.99. In both types of ASD type sinus coronarius assessed on operation the ECHO diagnosis was correct. The application of colour Doppler technique increased the reliability of the ECHO examination. The accuracy of ECHO in ASD and PAPVD depends indirectly on age, body weight and body surface. No relationship was proved between reliability of ECHO diagnosis of the defect and the magnitude of the left-to-right shunt assessed by radiocirculography and the size of the defect assessed during operation. In no instance the diagnostic inaccuracy affected the surgical approach and the result of the operation. Despite certain diagnostic pitfalls, it is therefore possible to operate, using the comprehensive non-invasive examination procedure, children with these anomalies in our department without previous cardiac catheterization and angiography.

Adolescent↗
PubMed1989

True and nonspecific alveolitis sicca dolorosa related to operative removal of mandibular third molars.

Alveolitis sicca dolorosa (ASD) following removal of 145 mandibular third molars from 109 healthy university students was studied. The operations were all performed under local anaesthesia by the same oral surgeon under similar conditions, using similar postoperative procedures. True ASD was considered to have occurred if a patient returned to the surgeon seeking relief of the typical symptoms of ASD before the scheduled check-up date. Non-specific ASD was considered to have occurred in a patient who recorded an increase in pain intensity on a Visual Analogue Scale (VAS) from the third or fourth postoperative day onwards but did not return to the surgeon. True ASD was diagnosed in 5% of cases and non-specific ASD in 15% of cases.

Adult↗
PubMed1985

[Respiratory variations in the right ventricular diameter: an echocardiographic element in the diagnosis of partial isolated pulmonary venous return anomaly].

Isolated partial anomalous pulmonary venous drainage (PAPVD), in contrast to atrial septal defect (ASD), does not cancel out the effects of respiration on blood flow in the right ventricle. The aim of this study was to see whether this difference could contribute to the diagnosis of PAPVD without ASD on M mode echocardiography. The diastolic dimensions of the right ventricle on expiration and inspiration were compared in 4 groups of patients aged 2 to 17 years. Group 1 comprised 6 children with PAPVD without ASD; Group 2: 10 children with PAPVD and ASD; Group 3: 11 children with isolated non-restrictive ASD, and Group 4: 10 normal children. Groups 1 and 4 were comparable with a respiratory variation of RV dimension of 10 to 29%. On the other hand, in Groups 2 and 3 the percentage variation was less than 6%. The finding of isolated RV dilatation with normal respiratory variation of its internal dimension should therefore alert the operator to the possible diagnosis of PAPVD without ASD.

Adolescent↗
PubMed1988

[Surgery of symptomatic interauricular communication in the first year of life].

Symptomatic atrial septal defect (ASD) is rare in infancy and even more is symptomatic ASD requiring surgery at that age (13.7% and 3.7% respectively in our series). Our experience on surgery for symptomatic ASD in infancy with 6 cases out of 161 consecutive ASD surgically corrected during an experience of 17 years is presented. Ages ranged between 5 and 11 months (9.5 +/- 2.5 months) and weight between 4 and 6.400 kg (5.3 +/- 0.8 kg). In all cardiomegally was present with cardiothoracic ratio between 0.6 and 0.7 in 4 and over 0.7 in the remainder two cases. Isolated ASD was present in 3 cases, associated partial anomalous pulmonary venous drainage ein 3 and additional ventricular septal defect in one. Mortality was present in one case due to hypoplasia of the left ventricular cavity. Follow up ranged between 30 and 156 months with a cumulative follow up of 442 months, mean 88.4 +/- 50.8 months/patient. Clinically all are asymptomatic without medication. Clinical and hemodynamic data file, surgery complications and possible risk factors for development symptomatology in the ASD in infancy are widely commented.

Female↗
PubMed1984

[Diagnosis of interatrial communications using contrast echocardiography].

M-mode contrast echocardiography with peripheral venous injections was performed in 73 patients with interatrial communications: 48 (group 1) had a hemodynamically significant atrial septal defect (ASD), 19 (group 2) had a patent foramen ovale (PFO) without clinical or oxymetric evidence of a shunt. The remaining 6 (group 3) had an interatrial communication in combination with severe additional congenital malformations predisposing to a right to left (R-L) shunt. Contrast studies were considered positive for a shunt lesion when at least five clearly recognizable contrast echoes appeared in the left heart following one injection. During quiet respiration positive contrast studies were obtained in 85% of all ASD patients (including all 10 with Eisenmenger's reaction and 31/38 [82%] uncomplicated cases); in 37% of the PFO cases (including 3/13 with normal right heart pressures), and in 53/73 (73%) of all patients with interatrial communications. The intensity of contrast shunting was variable in all groups. Opacification of the mitral funnel (which is typical for an atrial level shunt) was observed in 45 patients. In 8 patients with positive studies the few contrast echoes, that appeared in the left heart were first seen after they had left the mitral valve. Contrast injections into the pulmonary artery were performed in a control group of 29 patients. No contrast appeared in the left heart as expected. In 57 patients (39 ASD, 17 PFO, 1 group 3) contrast studies were also performed during the Valsalva maneuver. Valsalva provocation resulted in increased contrast shunting in 19, led to new mitral funnel opacification in 9 and improved the sensitivity of contrast echocardiography by 9 and 26% in ASD and PFO cases respectively. The intensity of contrast shunting was largely independent of the hemodynamic findings and was often variable upon subsequent injections in the same patient. Therefore contrast echocardiography is not helpful in predicting the L-R shunt or the pulmonary artery pressure and does not seem suited for follow-up studies. The differentiation between true contrast echoes in the left heart and artifacts, noise echoes, "overload", or incomplete mitral structures and the differentiation between interatrial and interventricular contrast shunting is usually easy. However the distinction between a hemodynamically significant ASD and pulmonary arteriovenous fistulas, certain venous anomalies or a patent foramen ovale may be difficult or even impossible by contrast echocardiographic criteria alone. Resting two-dimensional contrast echocardiograms were recorded in 57 patients including 34 with ASD, 18 with PFO and 5 from group 3.(ABSTRACT TRUNCATED AT 400 WORDS)

Adolescent↗
PubMed1984

[Diagnosis of interatrial shunts using contrast echocardiography].

M-mode contrast echocardiography with peripheral venous injections was performed in 73 patients with interatrial communications: 48 (group 1) had a hemodynamically significant atrial septal defect (ASD), 19 (group 2) had a patent foramen ovale (PFO) without clinical or oxymetric evidence of a shunt. The remaining 6 (group 3) had an interatrial communication in combination with severe additional congenital malformations predisposing to a right to left (R-L) shunt. Contrast studies were considered positive for a shunt lesion when at least five clearly recognizable contrast echoes appeared in the left heart following one injection. During quiet respiration positive contrast studies were obtained in 85% of all ASD patients (including all 10 with Eisenmenger's reaction and 31/38 [82%] uncomplicated cases); in 37% of the PFO cases (including 3/13 with normal right heart pressures), and in 53/73 (73%) of all patients with interatrial communications. The intensity of contrast shunting was variable in all groups. Opacification of the mitral funnel (which is typical for an atrial level shunt) was observed in 45 patients. In 8 patients with positive studies the few contrast echoes, that appeared in the left heart were first seen after they had left the mitral valve. Contrast injections into the pulmonary artery were performed in a control group of 29 patients. No contrast appeared in the left heart as expected. In 57 patients (39 ASD, 17 PFO, 1 group 3) contrast studies were also performed during the Valsalva maneuver. Valsalva provocation resulted in increased contrast shunting in 19, led to new mitral funnel opacification in 9 and improved the sensitivity of contrast echocardiography by 9 and 26% in ASD and PFO cases respectively. The intensity of contrast shunting was largely independent of the hemodynamic findings and was often variable upon subsequent injections in the same patient. Therefore contrast echocardiography is not helpful in predicting the L-R shunt or the pulmonary artery pressure and does not seem suited for follow-up studies. The differentiation between true contrast echoes in the left heart and artifacts, noise echoes, "overload", or incomplete mitral structures and the differentiation between interatrial and interventricular contrast shunting is usually easy. However the distinction between a hemodynamically significant ASD and pulmonary arteriovenous fistulas, certain venous anomalies or a patent foramen ovale may be difficult or even impossible by contrast echocardiographic criteria alone. Resting two-dimensional contrast echocardiograms were recorded in 57 patients including 34 with ASD, 18 with PFO and 5 from group 3.(ABSTRACT TRUNCATED AT 400 WORDS)

Adult↗
PubMed1981

[Interauricular communication and mitral prolapse. An echocardiographic and angiographic study].

The association of atrial septal defect (ASD) and mitral valve prolapse (MVP) is well known but its precise incidence has not yet been established. Most previous publications have only been angiographic studies and the diagnostic criteria of MVP were, therefore, controversial. In this study, 61 consecutive patients, adults and children, underwent M mode echocardiography and cardiac catheterisation with cineangiography. In the adult group echocardiographic MVP was observed in one of 23 patients with secundum ASD. These findings were confirmed on angiography in addition, four other cases were observed in patients without systolic clicks or pansystolic or late systolic murmurs. MVP was observed in four out of 27 children with secundum ASD on M mode echocardiography and all cases were confirmed at angiography. In contrast to the adult group, no additional cases were demonstrated. Three out of 11 patients with ostium primum defects had MVP at echo and/or angiography, a finding which was probably related to the common atrioventricular canal. Follow-up echocardiography 6 weeks after surgical repair of ASD showed persistent but less marked MVP in all cases. Echocardiographic evidence of MVP was therefore demonstrated in 5 out of 50 patients (10%) with secundum ASD. It was more common in children (15%) than in adults (4%). These results differ from those previously published, probably because of differences in method (use of echo and angiography), diagnostic criteria, size of atrial shunt and the incidence of associated mitral regurgitation. The prevalence of MVP in patients with ASD may have been overestimated in previous publications.

Adolescent↗
PubMed1982

[Comparative studies on right ventricular pressure and volume overloading by thallium-201 myocardial scintigraphy].

Thallium-201 myocardial scintigraphy was performed in 44 patients with various heart diseases including mitral stenosis (MS), atrial septal defect (ASD), primary pulmonary hypertension (PPH), and left atrial myxoma. The morphological findings of right ventricular (RV) free wall on the scintigram and RV/IVS (interventricular septum) uptake ratio of the images obtained from the left anterior oblique projection were studied in the patients with RV pressure or volume overloading. The RV free wall was visualize by scintigraphy in 13 out of 22 patients (59%) with MS, and in 15 out of 17 patients (88%) with ASD. In 5 patients with PPH or left atrial myxoma, the RV free wall was visualized in all cases. The patterns of RV free wall image were classified into three types. Type I with the smaller right ventricle than left ventricle was mainly seen in cases of MS, and type II with the dilated right ventricle was seen in cases of ASD and PPH. The RV free wall was visualized in most of the patients with MS whose RV systolic pressure (RVSP) was higher than 35 mmHg and mean pulmonary artery pressure (PAMP) was 20 mmHg or more, and with ASD whose RVSP was higher than 30 mmHg and PAMP was 10 mmHg or more. The ratio of radioactivity on the RV free wall and interventricular septum (RV/IVS uptake ratio) was calculated using 45 degree left anterior oblique view images. The RV/IVS uptake ratio ranged from 0.38 to 0.73 in the cases with MS, from 0.40 to 0.77 in the cases with ASD, and from 0.64 to 0.79 in the cases with PPH. In two cases with left atrial myxoma, the ratio was 0.50 and 0.55, respectively. The RV/IVS uptake ratio was compared to various hemodynamic parameters in right ventricular overloading. In the cases with MS, the RV/IVS uptake ratio was closely correlated with RVSP (r = 0.93: p less than 0.001), PAMP (r = 0.92; p less than 0.001), pulmonary capillary wedge pressure (PCWP) (r = 0.83: p less than 0.01), RV work index (RVWI) (r = 0.82: p less than 0.001), and pulmonary vascular resistance (PVR) (r = 0.71: p less than 0.01), respectively. In the cases with ASD, the RV/IVS uptake ratio was closely correlated with RVSP (r = 0.89: p less than 0.001), PAMP (r = 0.68: p less than 0.01), PVR (r = 0.77: p less than 0.01), and a left-to-right shunt ratio (r = 0.785: p less than 0.001). It was concluded that the analysis of thallium-201 myocardial scintigraphy is valuable as a non-invasive technique for the qualitative and quantitative estimation of RV pressure or volume over-loading.U

Adult↗
PubMed1995

Follow-up results of transcatheter occlusion of atrial septal defects with buttoned device.

BACKGROUND: Feasibility, effectiveness and safety of transcatheter occlusion of secundum atrial septal defect (ASD) with buttoned device have been demonstrated. OBJECTIVES: To evaluate the follow-up results of the ASD with buttoned device method to assess its long term efficacy and safety. PATIENTS AND METHODS: Patient age at device implantation ranged from seven months to 51 years and weight ranged from 3.6 to 105 kg. Successful implantation of the device was accomplished in 20 of 22 consecutive patients (91%) seen during a 33-month period ending August 1992. Patients were divided into three groups based on the type of shunt across the ASD: group I (n = 14)--left-to-right shunt; group II (n = 5)--presumed paradoxical embolism; and group III (n = 1)--right-to-left shunt. These 20 patients were followed for 29 +/- 11 months, range 16 to 52 months. Follow-up included clinical evaluation, chest x-ray and echo-Doppler studies, and was performed two weeks, and three, six and 12 months after occlusion and yearly thereafter. Most patients received 5 to 10 mg/kg/day acetylsalicylic acid for 12 weeks following the device implantation. RESULTS: In 14 left-to-right shunt ASD closures, the right ventricular size diminished from 2.3 +/- 0.6 to 1.7 +/- 0.3 cm immediately after closure (P < 0.01) and remained decreased (1.6 +/- 0.46 cm) at last follow-up. Paradoxical/flat septal motion was present in 11 of 14 patients (79%) before closure while such an abnormal septal motion was not present in any at follow-up. Small to trivial left-to-right shunts across the implanted device were seen in six of 14 patients (43%) immediately after closure while trivial shunts were present in three of 14 (21%) at follow-up. Small shunts became trivial and trivial shunts disappeared. None of the patients had any clinical signs of ASD and none required surgical intervention during the follow-up period. None of the five patients with cerebrovascular accident (CVA)/paradoxical embolism had recurrence of CVA. Repeat transesophageal contrast echocardiographic study with Valsalva revealed minimal right-to-left shunt in two of five patients (40%) initially, which disappeared at follow-up. The single patient with CVA secondary to atrial right-to-left shunt following previous tetralogy repair had a transient ischemic episode four months after closure and underwent surgery at the discretion of the primary cardiologist. There were no wire fractures on follow-up x-rays. None developed endocarditis. CONCLUSIONS: These data indicate that effective ASD occlusion can be accomplished in left-to-right shunt and paradoxical embolism patients. Modification of the device to position the square-shaped patch on the right atrial side may be necessary to prevent CVA in patients with right-to-left shunts.

Adolescent↗
PubMed1994

Surgical indications and treatment of mitral valve disease associated with secundum atrial septal defect with special reference to left ventricular geometry and function.

There are few reports that discussed surgical indications and selection of surgical procedures for secundum atrial septal defect (ASD) associated with mitral valve disease from the viewpoint of left ventricular geometry and function. Our study on 20 patients (6 patients with ASD and MS, 14 patients with ASD and MR) indicated that adult patients with ASD and MS can be treated surgically even when left ventricular end-diastolic volume index (LVEDVI) is as low as 35 ml/m2 (one third of the normal level). Left ventricular wall movement returned to normal one year following surgery. Therefore, rather than myocardial impairment, right ventricular volume load disturbing left ventricular dilatation would be the more likely cause of diminished left ventricular function before surgery in the ASD and MS group. In both groups, two patients who initially had undergone mitral valve replacement died from low output syndrome because of the mismatch between the left ventricular volume and the prosthesis used, whereas there were no deaths in the patients who had mitral valve repair. For this reason, mitral valve repair is the treatment of choice for patients with both secundum ASD and mitral valve disease. When valve replacement is the only alternative, selection of prosthetic valves and maintenance of cardiac output by temporary cardiac pacing are important considerations. A low profile valve with a larger orifice area should be selected to avoid the mismatch between a left ventricular volume and a prosthesis.

Adult↗
PubMed1994

[Clinical differences in senile dementia of the Alzheimer's type and in multi-infarct dementia].

Impoverished grasp of the abstract and the essential notions (IG) and delusion of stealing (DS) were investigated in Alzheimer's senile dementia (ASD) and multi-infarction dementia (MID). IG severity was evaluated in impairment of memory and disorientation in 67 ASD and 70 MID patients. DS was studied in 24 ASD and 56 MID patients. It was found that in similar impairment of memory and disorientation, IG was more distinct in ASD, especially at early stages of the disease. DS occurred more frequently in ASD than in MID. In MID the IG and DS symptoms were more common and severe in patients over 80. No age-specific relations were recorded in ASD. The findings suggest involvement of cerebral senile-atrophic processes in IG and DS genesis in MID patients.

Aged↗
PubMed1993

Organization and nucleotide sequence of the Bacillus subtilis diaminopimelate operon, a cluster of genes encoding the first three enzymes of diaminopimelate synthesis and dipicolinate synthase.

The nucleotide sequence of a 7-kilobase segment of the Bacillus subtilis chromosome containing the entire coding regions for the enzymes catalyzing the first three steps of diaminopimelate synthesis as well as dipicolinate synthase has been determined. This group of functionally related genes, termed the dap operon, were arranged in the order orfY, orfX, asd, dapG, and dapA and were bracketed by potential rho-independent transcription terminators. The asd locus could complement the growth defect of Escherichia coli strains with an asd deletion. Disruption of the dapG locus led to the loss of aspartokinase I, with a phenotype similar to that of the temperature-sensitive dapG mutants described earlier (Roten, C. A. H., Brandt, C., and Karamata, D. (1991) J. Gen. Microbiol. 137, 951-962). The amino acid sequences of the deduced products of the asd, dapG, and dapA loci had high degrees of similarity with those of other aspartate semialdehyde dehydrogenases, aspartokinases, and dihydrodipicolinate synthases, respectively. Disruption of orfX had no effect on growth but caused a sporulation defect, characterized by low sporulation frequencies and heat-sensitive spores, which could be cured by supplementation with dipicolinate, similar to the phenotype of mutants defective in spoVF, the putative structural gene for dipicolinate synthase. Two other open reading frames, upstream of spoVF, encoded the 380 COOH-terminal residues of a protein homologous to mitochondrial processing proteases and an 85-residue polypeptide of unknown function. Transcription initiation sites associated with the orfY-orfX-asd-dapG-dapA gene cluster were mapped by primer extension. The results indicate that during vegetative growth, the three distal genes of the dap operon, asd, dapG, and dapA, are transcribed as a unit and orfY and orfX are not expressed, whereas at stage 5 of sporulation two separate transcripts are produced, one comprising all five genes, the other just the three distal genes of the operon.

Amino Acid Sequence↗
PubMed1998

The electrocardiogram and the secundum atrial septal defect: a reexamination in the era of echocardiography.

BACKGROUND: Ostium secundum atrial septal defects (ASDs) often present subtly and may be a diagnostic challenge to the community physician. Characteristic abnormalities of the electrocardiogram (ECG) have been described in adults. OBJECTIVE: To determine whether ECG abnormalities are consistently present in children with a hemodynamically significant ASD, and their potential for differentiating this group from patients with innocent murmurs. DESIGN: Retrospective evaluation of clinical characteristics, echocardiographic data, and ECGs was undertaken in 67 consecutive children with an ASD (mean age 2.9 +/- 2.8 years, 63% female) and 77 patients with innocent murmur (mean age 3.2 +/- 2.6 years, 61% male). Predetermined ECG criteria were derived from adult studies (rsR'-V1 with evidence of right ventricular hypertrophy, isolated rsR'-V1, and unequivocal right ventricular hypertrophy without rsR'-V1). ECGs were interpreted blindly by two observers. RESULTS: In the ASD group 58 (87%) patients had an ECG that met predetermined criteria compared with three (3.9%) controls (P < 0.001). Completely normal ECGs were found in only four (6.0%) ASD patients compared with 66 (86%) controls (P < 0.001). The ECG criteria had a sensitivity of 86% (95% CI 0.784 to 0.947) and a specificity of 96% (95% CI 0.918 to 1.000). When any ECG abnormality was considered the sensitivity increased to 94% (95% CI 0.884 to 0.997) with a decline in specificity to 86% (95% CI 0.779 to 0.935). CONCLUSIONS: The ECG is potentially a valuable adjunct to the physical examination in differentiating children with an ASD from those with an innocent murmur in the primary care setting.

Child, Preschool↗
PubMed1998

[Diagnosis and management of patients with sex differentiation disorders: experience at the Unit of Medical Genetics of the University of Zulia, Maracaibo, Venezuela].

Abnormalities of sexual differentiation (ASD) represent a group of entities, heterogeneous in their etiopathogenesis and clinical manifestations. In order to characterize and analyze the epidemiologic, clinical, endocrine and genetic aspects of patients with ASD consulting UGM-LUZ between 1971-1996, the families that had at least one of its members affected were evaluated. Strict diagnostic criteria to each entity were applied. Cytogenetic, hormonal, radiological, echographic and anatomopathological evaluations were done in each patient. From 391 families, 429 patient consulted with ASD. They represent 5.4% of the patient who consulted to UGM-LUZ in the same period. 214 (50%) patients with definitive diagnosis of ASD were identified to fill the established inclusion criteria. The distribution was the following: 139 with anomalies of the sexual chromosomes; 36 with congenital adrenal hyperplasia; 21 with complete androgen insensitivity syndrome; 14 with mixed gonadal dysgenesis; and 4 with true hermaphroditism. 183 (42.7%) patients with male pseudohermaphroditism and 17 (3.9%) with female pseudohermaphroditism were diagnosed as they did not fulfill the established diagnostic criteria. 15 (3.4%) patients presented ASD associated to a polymalformative syndrome. The ASD are very complex entities, they need the participation of an interdisciplinary team for their diagnosis and management process.

Adolescent↗
PubMed2026

CRISPR-Enabled functional genomics in hPSCs-derived neural models for autism spectrum disorder.

Autism Spectrum Disorder (ASD) is a genetically heterogeneous neurodevelopmental condition in which hundreds of individually rare risk variants converge on a small number of shared biological pathways, including synaptic scaffolding, chromatin remodeling, excitation-inhibition balance, and cellular energy metabolism. Translating this genetic heterogeneity into mechanistic insight requires experimental systems capable of interrogating individual gene functions in human-relevant neural contexts at scale. CRISPR-enabled functional genomics in human pluripotent stem cell (hPSC)-derived neural models, spanning neural progenitors, cortical and inhibitory neurons, astrocytes, microglia, and brain organoids, provides precisely this capability. By integrating pooled perturbation screens with multimodal readouts including single-cell and spatial transcriptomics, chromatin accessibility profiling, proximity labeling proteomics, multi-electrode array electrophysiology, and metabolic flux analysis, these platforms enable systematic, causal mapping of ASD gene function at system resolution. Early applications have already revealed convergent mechanisms: BAF complex disruption expands the ventral progenitor pool and biases its fate toward oligodendrocyte and interneuron lineages; ADNP loss impairs microglial synaptic pruning through altered endocytic trafficking; and mTOR pathway dysregulation in PTEN- and TSC2-perturbed models links genetic risk directly to metabolic and mitochondrial dysfunction. Computational frameworks including MIMOSCA and SCEPTRE enable causal network reconstruction and pseudotime inference from these datasets, moving the field from gene lists toward pathway-level models of ASD pathobiology. Translational applications leverage isogenic iPSC panels and variant-level base and prime editing to stratify ASD variants by functional impact, informing gene therapy design for haploinsufficient targets such as CHD8 and SCN2A via AAV or antisense oligonucleotide delivery. Remaining challenges, including model developmental immaturity, batch variability, and the difficulty of modeling polygenic risk, are addressed by a roadmap integrating spatial perturbomics, AI-driven causal inference, and population-scale standardized biobanks. This review synthesizes the current state of CRISPR-based functional genomics in human stem cell neural models as a coherent experimental framework for converting ASD genetic associations into mechanistic understanding and therapeutic opportunity.

Humans↗
PubMed1986

Atrial septal defects that present in infancy.

The diagnosis of isolated secundum atrial septal defect (ASD) in infancy is uncommon. We studied 26 infants with ASD confirmed at cardiac catheterization. Of these, nine were born prematurely, 15 presented with symptoms of congestive heart failure, and only three were noted to have the clinical features of an ASD in spite of large left to right shunts. All but two patients responded to medical management. Spontaneous closure of the ASD was documented in 39% (ten) of the patients at ages ranging from 2 to 8 years. Twelve patients underwent surgical closure at a mean age of 4 years. No variables at presentation were predictive of subsequent spontaneous closure. In view of the high rate of spontaneous closure and the success of medical therapy, most infants with symptomatic ASD may be managed medically, allowing sufficient time to observe whether spontaneous closure will occur.

Blood Pressure↗
PubMed2003

Evidence of brain overgrowth in the first year of life in autism.

CONTEXT: Autism most commonly appears by 2 to 3 years of life, at which time the brain is already abnormally large. This raises the possibility that brain overgrowth begins much earlier, perhaps before the first clinically noticeable behavioral symptoms. OBJECTIVES: To determine whether pathological brain overgrowth precedes the first clinical signs of autism spectrum disorder (ASD) and whether the rate of overgrowth during the first year is related to neuroanatomical and clinical outcome in early childhood. DESIGN, SETTING, AND PARTICIPANTS: Head circumference (HC), body length, and body weight measurements during the first year were obtained from the medical records of 48 children with ASD aged 2 to 5 years who had participated in magnetic resonance imaging studies. Of these children, 15 (longitudinal group) had measurements at 4 periods during infancy: birth, 1 to 2 months, 3 to 5 months, and 6 to 14 months; and 33 (partial HC data group) had measurements at birth and 6 to 14 months (n = 7), and at birth only (n = 28). MAIN OUTCOME MEASURES: Age-related changes in infants with ASD who had multiple-age measurements, and the relationship of these changes to brain anatomy and clinical and diagnostic outcome at 2 to 5 years were evaluated by using 2 nationally recognized normative databases: cross-sectional normative data from a national survey and longitudinal data of individual growth. RESULTS: Compared with normative data of healthy infants, birth HC in infants with ASD was significantly smaller (z = -0.66, P<.001); after birth, HC increased 1.67 SDs and mean HC was at the 84th percentile by 6 to 14 months. Birth HC was related to cerebellar gray matter volume at 2 to 5 years, although the excessive increase in HC between birth and 6 to 14 months was related to greater cerebral cortex volume at 2 to 5 years. Within the ASD group, every child with autistic disorder had a greater increase in HC between birth and 6 to 14 months (mean [SD], 2.19 [0.98]) than infants with pervasive developmental disorder-not otherwise specified (0.58 [0.35]). Only 6% of the individual healthy infants in the longitudinal data showed accelerated HC growth trajectories (>2.0 SDs) from birth to 6 to 14 months; 59% of infants with autistic disorder showed these accelerated growth trajectories. CONCLUSIONS: The clinical onset of autism appears to be preceded by 2 phases of brain growth abnormality: a reduced head size at birth and a sudden and excessive increase in head size between 1 to 2 months and 6 to 14 months. Abnormally accelerated rate of growth may serve as an early warning signal of risk for autism.

Anthropometry↗