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PubMed2006

Autism following a history of newborn encephalopathy: more than a coincidence?

Between June 1993 and December 1996, 276 term newborn infants with encephalopathy and 564 randomly selected term controls were enrolled in a population-based study of moderate and severe term newborn encephalopathy (NE) in Western Australia. During comprehensive neurobehavioural and cognitive follow-up of all patients and controls at 3 years and again at 5 years of age we found an unexpected but strong association between NE and autism spectrum disorders (ASDs). A diagnosis of ASD by age 5 years was reached using criteria according of the Diagnostic Statistical Manual, 4th edition. Linking records to the Western Australian Disability Services Commission Register ensured that no child in the study with ASD was missed. By age 5 years, 37 (13.4%) infants with NE and one (0.2%) control had died. Among the 239 survivors of NE, 12 (5%) were diagnosed with an ASD. Of these, 10 (4.2%) met the full criteria for autism, one had pervasive developmental disorder-not otherwise specified, and one had Asperger syndrome. Among the 563 surviving controls, five (0.8%) were diagnosed with an ASD: three with autism, one with autism/possible Asperger syndrome, and one with Asperger syndrome. Compared with the controls, the children who had experienced NE were 5.9 times (95% confidence interval 2.0-16.9) more likely to have been diagnosed with an ASD.

Autistic Disorder↗
PubMed2000

ASD4, a new GATA factor of Neurospora crassa, displays sequence-specific DNA binding and functions in ascus and ascospore development.

A new gene encoding a novel GATA factor, ASD4, of Neurospora crassa was isolated and demonstrated to possess one intron and to specify an open reading frame encoding a protein with 427 amino acid residues. The ASD4 protein contains a single GATA-type zinc finger and a putative coiled-coil domain. Unlike related proteins, DAL80 in yeast and NREB in Penicillium, ASD4 does not appear to be involved in regulation of nitrogen metabolism. An Asd-4 null mutant obtained by the rip procedure did not show any effect upon nitrogen control, but instead resulted in severe defects in ascus and ascospore genesis. The Asd-4 rip mutant is dominant to Asd-4+. A cross of the Asd-4 mutant with wild-type resulted in fruiting bodies that appeared to be normal macroscopically but which were complete devoid of asci and ascospores. Introduction of the Asd-4+ gene into the Asd-4 rip mutant corrected the defect in ascus and ascospore development in crosses with wild-type. Mobility shift assays demonstrated that ASD4 acts as a sequence-specific DNA binding protein and recognizes DNA fragments that contain GATA core elements. Gel filtration and cross-linking experiments revealed that the ASD4 protein exists as a tetramer in solution. These results suggest that the ASD4 protein functions positively as a transcriptional regulator of sexual development in Neurospora.

Blotting, Northern↗
PubMed2004

Matching preschool children with autism spectrum disorders and comparison children for language ability: methodological challenges.

Earlier identification of children with autism spectrum disorders (ASDs) is welcome, but presents a number of challenges to the clinical and the research enterprises (see Charman & Baird [2002] for a review). In the research enterprise, one critical methodological challenge is the use of appropriate measures on which to match groups of preschoolers with ASDs to comparison groups with other neurodevelopmental conditions. Language and communication impairments are central to the diagnosis of ASD and, therefore, critical variables to consider in group-matched research designs. In the domain of language function the challenges include the very poor language competence of many preschoolers with ASDs, the fact that some early language competencies form part of the formal diagnostic criteria of ASD and diagnostic algorithms on research diagnostic instruments, the uneven profile of language competency in children with ASDs, and the difference between performance on measures of formal language competency in the testing situation and everyday language use. The current paper will review these challenges and suggest some possible approaches to overcome them, including using more than one measure of language ability and adopting a pragmatic approach to group composition and statistical analysis.

Autistic Disorder↗
PubMed2026

Efficacy of pharmacological and microbiota-based therapies in preclinical models of autism spectrum disorder: a systematic review.

BACKGROUND: Autism spectrum disorder (ASD) is a multifactorial neurodevelopmental condition in which pharmacological and microbiota-targeted interventions are emerging as promising therapeutic avenues. Animal models are the main tool to investigate etiology, molecular mechanisms and screening for pharmacological therapies. Methodological differences, outcome measure variability, incomplete reporting, biological confounders, and overgeneralization of the results made evaluating innovative pharmacological agents challenging. These limitations in the field highlight a need for systematic and standardized research to reliably assess and translate pharmacological interventions from ASD animal models to human clinical relevance. SUBJECTS: This systematic review synthesized efficacy evidence for pharmacological and microbiota-based therapies across established ASD animal models. RESULTS: We identified 52 recent (2010-2025) studies that reported key ASD behavioral outcomes after pharmacological or microbiota-focused treatments. Interventions were grouped into therapeutic classes - including oxytocinergic agents, E/I balance therapeutic targets, metabolic drugs, cannabinoids, purine-based interventions and emerging targets - alongside microbiota-directed strategies such as probiotics, prebiotics, and fecal microbiota transplantation. By integrating effect directions and robustness across models, we identified most potential drug candidates, evaluated the efficacy of novel strategies, and recognized critical translational gaps. The reviewed studies demonstrate that ASD-like behavioral deficits in preclinical models can be modulated through interventions targeting diverse biological systems, including neurotransmission, neuroinflammation, metabolism, and the gut-brain axis. CONCLUSIONS: These findings support the multifactorial nature of ASD pathophysiology which arises from a network of interacting systemic processes rather than a single molecular defect. It could explain the limited success of traditionally narrowly targeted interventions and suggest a paradigm shift into a more systemic approach.

Animals↗
PubMed2026

Evidence supporting the role of GIGYF2 in synapse development and autism.

Autism spectrum disorder (ASD) is a heterogeneous condition in which genetically defined subtypes offered insights into underlying biological mechanisms and potential targeted treatments. Here, we investigate the clinical and pathogenic significance of GIGYF2 variants in ASD through an integrated approach combining clinical genetics, conditional knockout (cKO) mouse models, neurobiology, and molecular studies. Through targeted sequencing, large-scale genomic data analysis of neurodevelopmental disorder cohorts, and international collaborations, we identified ten affected individuals from eight families harboring de novo or dominantly inherited likely gene-disruptive (LGD) variants and 13 affected individuals from 13 families with de novo missense variants in GIGYF2. Clinical characterization of 16 probands with GIGYF2 variants revealed common features, including ASD, language problems, intellectual disability, and anxiety. In a Gigyf2 cKO mouse model, we observed pronounced autistic-like behaviors, cognitive deficits, and anxiety-like behaviors, mirroring phenotypes observed in affected individuals. Mechanistically, Gigyf2 deficiency disrupted synaptic homeostasis, as evidenced by altered spine density and miniature excitatory postsynaptic currents, and impaired IGF-1R/mTOR signaling, along with dysregulation of synapse-related genes such as Nrp2. Pharmacological inhibition of mTOR with rapamycin or Torin1, as well as Nrp2 knockdown rescued synaptic defects in Gigyf2 KO neurons. These findings define a novel ASD subtype associated with GIGYF2 variants and establish GIGYF2 as a key regulator of synaptic development and function, implicating GIGYF2 dysfunction in ASD pathogenesis and highlighting the IGF-1R/mTOR pathway as a potential therapeutic target for GIGYF2-related ASD subtype.

Journal Article↗
PubMed1998

Secretion patterns of brain natriuretic peptide and atrial natriuretic peptide in patients with or without pulmonary hypertension complicating atrial septal defect.

UNLABELLED: BACKGROUND This study was designed to investigate plasma levels of atrial natriuretic peptide (ANP) and brain natriuretic peptide (BNP) in patients with atrial septal defect (ASD), whose right ventricular loading patterns vary from simple volume overloading to both volume and pressure overloading. METHODS AND RESULTS: Plasma ANP and BNP in the pulmonary artery were measured in 31 adult patients with ASD and 11 control subjects. On the basis of the presence of pulmonary hypertension (PH, mean pulmonary arterial pressure >20 mm Hg), patients with ASD were divided into two groups, patients without PH (group 1, n = 21) and those with PH (group 2, n = 10). Cardiac catheterization was performed to measure mean pulmonary arterial pressure and pulmonary blood flow. Plasma ANP was significantly higher in both group 1 and group 2 than in the control group. Plasma BNP and BNP to ANP (BNP/ANP) ratio were significantly higher in group 2 than in the control group, although they were not significantly elevated in group 1. Plasma ANP positively correlated with the degree of pulmonary blood flow (r = 0.54, p < 0.01), whereas plasma BNP positively correlated with the magnitude of mean pulmonary arterial pressure (r= 0.73, p < 0.001). BNP/ANP >1 was a powerful marker for the presence of PH (sensitivity 90%, specificity 90%). CONCLUSIONS: Plasma ANP levels were elevated in adult patients with ASD regardless of PH. In contrast, plasma BNP levels were elevated in proportion to the severity of PH complicating ASD. Thus BNP and ANP may represent differing aspects of cardiac response to right ventricular overload in patients with ASD.

Adult↗
PubMed2006

Language play in children with autism spectrum disorders: implications for practice.

The purpose of this article is to present evidence for the use of language play by children with autism spectrum disorders (ASD) within the context of play with peers. A conceptual framework for the development of language play is described. This framework, which is supported by the literature on language play in typically developing children, is used to assess patterns of language play in children with ASD. The findings of a descriptive study are used to provide evidence for language play in the speech of children with ASD during interactions with typical peers and show that children with ASD use language play in a similar way as their typically developing peers with the exception of age of occurrence. Implications for clinicians in their work with children with ASD are discussed as they relate to the existence of language play in children with ASD and the function of language play as a tool for language learning.

Autistic Disorder↗
PubMed2002

Effectiveness of percutaneous device occlusion for atrial septal defect in adult patients with pulmonary hypertension.

BACKGROUND: Adult patients with atrial septal defect (ASD) and pulmonary hypertension have a more advanced degree of disease, frequently having functional class deterioration and atrial arrhythmias when they are aged >40 years. Surgery at this age prolongs life expectancy and limits functional deterioration. Although percutaneous ASD device occlusion is an accepted alternative to surgery, there is limited information on the immediate and long-term effects of device occlusion in middle-aged and elderly patients with ASD and pulmonary hypertension. METHODS: From a total of 101 patients with secundum ASD who were receiving treatment with percutaneous device occlusion, we selected for analysis 29 adult patients (mean age 56 +/- 14 years) with a baseline peak pulmonary pressure of >40 mm Hg (mean 65 +/- 23 mm Hg). Three of the patients had suprasystemic pulmonary pressure and a bidirectional shunt. Six patients were asymptomatic at treatment. The remaining 23 had different degrees of dyspnea; 14 of them had an advanced New York Heart Association functional class (III-IV). Twelve patients had chronic atrial fibrillation. At cardiac catheterization, the mean ratio of pulmonary to systemic flow was 1.8 +/- 0.5, and the pulmonary-to-systemic pressure ratio was 0.66 +/- 0.22. The mean diameter of the defect, as evaluated by the stretching balloon method, was 26 +/- 7 mm. All patients received an Amplatzer septal occluder (Golden Valley, Minn). Seven patients had combined therapeutic procedures for associated anomalies before the implant: mitral balloon valvuloplasty (n = 1), stent coronary revascularization (n = 1), stent in pulmonary vein stenosis (n = 1), and internal catheter defibrillation (n = 4). After treatment, patients were followed up by clinical and echocardiographic Doppler studies every 6 months. RESULTS: Immediately after the implantation, the peak systolic pulmonary pressure significantly decreased to 54 +/- 21 mm Hg (P <.001). A clear improvement in functional status was observed after the treatment in all symptomatic patients, especially in those with refractory heart failure. There were no major complications. Six patients who had atrial fibrillation at baseline study recovered to a stable sinus rhythm after treatment, and it was maintained at discharge. Complete ASD occlusion by echocardiographic Doppler at discharge was observed in 28 patients (97%). After a mean follow up of 21 +/- 14 months, clinical improvement persisted in all previously symptomatic patients, and the peak systolic pulmonary pressure, obtained by echocardiographic Doppler, further decreased to 31 +/- 11 mm Hg (P <.001) compared with baseline and immediately after hemodynamic measurements. CONCLUSIONS: Our findings suggest that percutaneous device occlusion of ASD in adult patients with pulmonary hypertension is safe and effective and provides significant and prolonged relief.

Adult↗
PubMedDate not supplied

Closure of atrial septal defects: is there still a place for surgery?

BACKGROUND: The purpose of this study is to assess the current management of atrial septal defect closure in an era of increasing feasibility of transcatheter device occlusion. METHODS: Atrial septal defect (ASD) closure was performed surgically through complete sternotomy in 165 patients (group 1) and through partial inferior sternotomy in 53 patients (group 2). Transcatheter device occlusion was achieved in 82 patients with only ASD type II and patent foramen ovale (group 3). RESULTS: Overall complications were minor and more frequent in group 1: 26.7% versus 13.2% in group 2 and 14.6% in group 3 (p = 0.04). Compared to complete sternotomy, a partial sternotomy led to less chest tube loss (7.1 +/- 2.9 versus 11.6 +/- 14.5 ml/kg) (p < 0.05) and less postoperative pericardial effusion (11.3% versus 13.5%)(p = 0.55). ASD closure was effective in 99.4% in group 1, 100% in group 2 but only in 86.6% in group 3 (p < 0.05). Two major complications of device implantation required early surgery: 1 femoral arteriovenous fistula and 1 device embolization. Hospital stay was significantly shorter in group 3, as well as in group 2 compared to group 1 (8.3 +/- 4.2 versus 5.9 +/- 1.1 versus 2.1 +/- 7.3 days) (p < 0.05). Midterm results were excellent, with only 1 non-cardiac death and 1 re-operation for residual shunt in group 1, and 1 device removal for thrombosis in group 3. CONCLUSION: Transcatheter device occlusion has become an established treatment for ASD closure, achieving optimal results in older children and adults with anatomically suited ASD type II and PFO. However, a partial inferior sternotomy offers a valuable and complementary operative approach for all ASD variants, maintaining the predictable success of surgery, with the obvious advantages of minimal access in terms of morbidity, cosmetics and hospital stay.

Adolescent↗
PubMed2006

Adjustment, sibling problems and coping strategies of brothers and sisters of children with autistic spectrum disorder.

BACKGROUND: Siblings of children with autistic spectrum disorder (ASD) express more problem behaviours and experience more difficulties in their relationships than do children in families where all children are developing typically. We know little about what contributes to these difficulties. METHOD: Mothers of a child with ASD completed the Child Behavior Checklist (Achenbach, 1991) with respect to a non-disabled sibling. Siblings responded to a questionnaire tapping their knowledge about their brother or sister's disorder. They reported on problems they had experienced with their brother or sister with ASD and on the coping strategies they had used in response to these events. Problems were classified into 1 of 5 problem types. RESULTS: Aggressive behaviour was the most commonly reported interaction problem and anger was the usual response. Siblings did not generally choose blaming (either self or other) as a coping strategy when facing difficulties with their brother or sister with ASD. Neither coping strategies nor knowledge of ASD were associated with adjustment. Forty percent of non-disabled siblings had scores on the Child Behavior Checklist that placed them in the borderline or clinical range. CONCLUSIONS: The current study indicated that siblings of children with ASD are at increased risk of developing internalising behaviour problems. The contributing factors to this outcome are unknown at this point. It is important for research to focus on dynamic variables in the search for these contributors, as they are open to change.

Adaptation, Psychological↗
PubMed2006

Inhibition of sodium glucose cotransporter-I expressed in Xenopus laevis oocytes by 4-acetoxyscirpendiol from Cordyceps takaomantana (anamorph = Paecilomyces tenuipes).

Cordyceps contains many health-promoting constituents. Recent studies revealed that the fruiting body of cordyceps significantly alleviates hyperglycemia which usually accompanies diabetes mellitus. The mechanism of the anti-hyperglycemic effect by cordyceps, however, is not fully understood. In this study, methanolic extracts were prepared from fruiting bodies of Paecilomyces tenuipes, and 4-beta acetoxyscirpendiol (ASD) was eventually purified from the extracts. The Na+/ glucose transporter-1 (SGLT-1) was expressed in Xenopus oocytes, and the effect of ASD on it was analyzed using voltage clamp and 2-deoxy-D-glucose (2-DOG) uptake studies. Fluorescence microscopy was performed to monitor the effect of ASD on glucose uptake using HEK293 cells expressing recombinant SGLT-1. ASD inhibited SGLT-1 activity, and its two derivatives (2-acetoxyscirpenol and 15-acetoxyscirpendiol), were also effective; 15-acetoxyscirepenol was as inhibitory as ASD while diacetoxyscirpenol had less effect. Thus, the ASD in P. tenuipes may play an important role in lowering blood sugar in the circulatory system along with its derivatives as specific inhibitors of SGLT-1.

Animals↗
PubMed2006

Familial transmission risk of infantile glaucoma in Australia.

PURPOSE: Primary infantile glaucoma (PIG) is predominantly inherited as a recessive disease, whereas anterior segment dysgenesis (ASD) is usually dominantly inherited. The purpose of this study was to determine the likelihood of a person who has infantile glaucoma to produce a child who also manifests the disease. METHODS: A retrospective cross-sectional design was utilized. The pedigrees of probands from south-eastern Australia diagnosed with infantile glaucoma since 1980 were reviewed. Cases were subdivided into two groups according to the presence or absence of ASD. Exclusion criteria included incomplete pedigree phenotype information or aphakic glaucoma following congenital cataract surgery. Fisher's exact test was used to compare the parent-offspring phenotype transmission between ASD-associated infantile glaucoma and PIG. RESULTS: A total of 67 probands were identified; however, three pedigrees were excluded due to incomplete phenotype information. Direct parent-offspring transmission of phenotype was statistically significantly more common in ASD-associated infantile glaucoma (2/8) than in PIG (1/56) pedigrees (p = 0.039). CONCLUSIONS: Although this study reveals that Australian patients with ASD-associated infantile glaucoma are at greater risk of having children with infantile glaucoma than patients with PIG, the number of ASD pedigrees with direct transmission of infantile glaucoma is lower than expected. Based on our population frequency analysis and the results of our study, the risk of PIG, if one parent is affected by PIG and the other is normal, is less than 2%.

Anterior Eye Segment↗
PubMed2006

Atrial and ventricular septal defects - epidemiology and spontaneous closure.

OBJECTIVE: To present data on the epidemiology and spontaneous closure for septal defects (secundum atrial septal defect (ASD) and/or ventricular septal defect (VSD)). METHODS: Data from the EUROCAT Registry of Congenital Malformations for Funen County, Denmark were analyzed. All infants born from 1986 to 1998, diagnosed with a secundum ASD and/or a VSD as the only cardiac malformation, were included. RESULTS: There were 78 infants with an ASD, 195 with a VSD, and 19 had both an ASD and a VSD. The overall prevalence of septal defects was 4.1 per 1000 livebirths. Among the VSDs 45% were perimembranous and 55% were muscular defects. Associated non-cardiac malformations, syndromes, or karyotype anomalies were present in 54 cases (19% of total) but with a significantly lower proportion among cases with muscular VSDs (7%, p < 0.05). Eighty-one percent of the cases had an isolated cardiac malformation. Five of 61 cases (8%) with isolated ASD were closed surgically before five years of age and 43 (70%) closed spontaneously within the first five years of life. Of the 65 cases with isolated perimembranous VSDs, 13 were closed surgically (20%) and 13 closed spontaneously (20%). Of the 99 cases with isolated muscular VSDs no defects were closed by surgery and 64 (65%) closed spontaneously. The rate of spontaneous closure for perimembranous and muscular VSDs were significantly different (p < 0.0001). CONCLUSIONS: Secundum ASD has a high rate of spontaneous closure. Perimembranous and muscular VSDs seem to be two different diseases with different epidemiology and natural history.

Chromosome Aberrations↗
PubMed2025

Blood-based DNA methylation markers for autism spectrum disorder identification using machine learning.

BACKGROUND: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder lacking objective biomarkers for early diagnosis. DNA methylation is a promising epigenetic marker, and machine learning offers a data-driven classification approach. However, few studies have examined whole-blood, genome-wide DNA methylation profiles for ASD diagnosis in school-aged children. METHODS: We analyzed genome-wide DNA methylation data from GEO dataset GSE113967, including 52 children with ASD and 48 typically developing (TD) controls. Differentially methylated positions (DMPs) were identified, and feature selection was performed using support vector machine-recursive feature elimination with cross-validation (SVM-RFECV). Classification models were developed using random forest (RF), extreme gradient boosting (XGBoost), and decision tree (DT) classifiers. A nomogram visualized feature contributions. RESULTS: A total of 138 DMPs differentiated ASD from TD children. Eleven CpG sites selected by SVM-RFECV formed the basis for model construction. RF and XGBoost achieved the highest accuracy (75%), with DT reaching 70%. Functional annotation indicated enrichment in cell adhesion and immune-related pathways. CONCLUSIONS: This exploratory study demonstrates the feasibility of integrating peripheral blood DNA methylation data with machine learning to distinguish children with ASD. While limited by sample size and moderate accuracy, this study provides methodological insights into the feasibility of integrating epigenetic and computational approaches for ASD-related biomarker exploration.

Humans↗
PubMed1992

A nephritogenic rat monoclonal antibody to mouse aminopeptidase A. Induction of massive albuminuria after a single intravenous injection.

Antibodies directed against antigens present on renal epithelial cells can cause membranous glomerulonephritis in experimental animals, which closely resembles the human form of this disease. However, most antibodies produced so far fail to cause the persistent and severe proteinuria that is seen in humans. In our search for new antibodies of this kind, we have now produced a monoclonal antibody (mAb) against mouse aminopeptidase A, a hydrolase that is present in the mouse kidney. The mAb (ASD-4) was prepared by fusion of mouse myeloma cells with splenocytes of Lou rats immunized with brush border (BB) membranes from mouse kidneys. ASD-4 is of the IgG1 subclass and reacts with a 140-kD protein as demonstrated by immunoprecipitation on radiolabeled BB membranes. In indirect immunofluorescence and immunoelectronmicroscopy of normal mouse kidneys, ASD-4 was diffusely present on the BB of the S1 and S2 segments of the proximal tubules, and on the cell membranes of the glomerular visceral epithelia. It also bound to cell membranes of nonglomerular endothelia, smooth muscle cells of arteries, and juxtaglomerular cells. After injection of ASD-4 into normal mice, an immediate homogeneous binding to the capillary wall was seen that gradually changed into a fine granular pattern after 1 d. This glomerular binding was followed by binding to the BB and basolateral membranes of the convoluted proximal tubules. Immediately after injection of ASD-4, a dose-dependent albuminuria occurred that lasted for at least 16 d. ASD-4 is thus a new rat mAb against a well-defined renal epithelial antigen that causes not only membranous glomerulonephritis after a single injection in the mouse, but also severe albuminuria.

Albuminuria↗
PubMed2005

Atypical sleep architecture and the autism phenotype.

A growing body of evidence indicates that people with autism frequently experience sleep disorders and exhibit atypical sleep architecture. In order to establish whether sleep disorders truly belong to the autism spectrum disorder (ASD) phenotype, we conducted a subjective and objective study of sleep in a group of high-functioning adults with ASD but without sleep complaints, psychiatric disorders or neurological comorbidity. We compared the subjective data of 27 ASD participants with those of 78 healthy controls matched for chronological age and gender. Subjective measures of sleep in the clinical group were compatible with insomnia and/or a tolerable phase advance of the sleep-wake cycle. Subjective data were confirmed by objective laboratory sleep recordings in a subset of 16 patients and 16 controls. Persons with autism presented with a longer sleep latency (P < 0.04), more frequent nocturnal awakenings (P < 0.03), lower sleep efficiency (P < 0.03), increased duration of stage 1 sleep (P < 0.02), decreased non-REM sleep (stages 2 + 3 + 4, P < 0.04) and slow-wave sleep (stages 3 + 4, P < 0.05), fewer stage 2 EEG sleep spindles (P < 0.004), and a lower number of rapid eye movements during REM sleep (P < 0.006) than did control participants. On clinical scales, the scores of persons with ASD on the Beck Depression Inventory were similar to those of persons without, but their trait anxiety scores on the Spielberger Anxiety Scale were higher (P < 0.02). The state anxiety scores of the Spielberger scale and cortisol levels were the same in the two groups. Objective total sleep time correlated negatively with the Social (-0.52, P < 0.05) and Communication (-0.54, P < 0.02) scales of the Autism Diagnostic Interview-Revised. The sleep of clinical subgroups (10 with high-functioning autism, six with Asperger syndrome) did not differ, except for the presence of fewer EEG sleep spindles in the Asperger syndrome subgroup (P < 0.05). In conclusion, these findings indicate that atypicalities of sleep constitute a salient feature of the adult ASD phenotype and this should be further investigated in younger patients. Moreover, the results are consistent with an atypical organization of neural networks subserving the macro- and microstructure of sleep in ASD. We are furthering this research with quantified analysis of sleep EEG.

Adolescent↗
PubMed2006

Neural basis of irony comprehension in children with autism: the role of prosody and context.

While individuals with autism spectrum disorders (ASD) are typically impaired in interpreting the communicative intent of others, little is known about the neural bases of higher-level pragmatic impairments. Here, we used functional MRI (fMRI) to examine the neural circuitry underlying deficits in understanding irony in high-functioning children with ASD. Participants listened to short scenarios and decided whether the speaker was sincere or ironic. Three types of scenarios were used in which we varied the information available to guide this decision. Scenarios included (i) both knowledge of the event outcome and strong prosodic cues (sincere or sarcastic intonation), (ii) prosodic cues only or (iii) knowledge of the event outcome only. Although children with ASD performed well above chance, they were less accurate than typically developing (TD) children at interpreting the communicative intent behind a potentially ironic remark, particularly with regard to taking advantage of available contextual information. In contrast to prior research showing hypoactivation of regions involved in understanding the mental states of others, children with ASD showed significantly greater activity than TD children in the right inferior frontal gyrus (IFG) as well as in bilateral temporal regions. Increased activity in the ASD group fell within the network recruited in the TD group and may reflect more effortful processing needed to interpret the intended meaning of an utterance. These results confirm that children with ASD have difficulty interpreting the communicative intent of others and suggest that these individuals can recruit regions activated as part of the normative neural circuitry when task demands require explicit attention to socially relevant cues.

Adolescent↗
PubMed1997

A putative rhamnogalacturonase required for sexual development of Neurospora crassa.

In previous work, the asd-I (ascus development) gene of the filamentous fingus Neurospora crassa was identified as a gene expressed preferentially during the sexual cycle and shown to be essential for normal sexual development. The asd-I gene has been sequenced and further characterized. It contains two introns, the first of which is in-frame and inefficiently or differentially spliced. The predicted ASD-I protein has extensive homology with rhamnogalacturonase B of Aspergillus aculeatus, which cleaves the backbone within the ramified hairy regions of pectin. In homozygous asd-I crosses, sexual development is initiated and large numbers of normal-sized asci are formed. Ascospore delineation does not occur, however, and no sexual progeny are produced. As most asd-I asci contain eight nuclei, the two meiotic divisions and subsequent mitotic division typical of normal crosses seem to occur, but the haploid nuclei are not partitioned into ascospores. In wild-type crosses, the ASD-I protein is present in large amounts in croziers and young asci, but it is only faintly detectable in more mature asci containing developing ascospores. Models to explain the possible role of a rhamnogalacturonase in sexual development are presented.

Amino Acid Sequence↗