Neuropathological changes and clinical features of autism spectrum disorder participants are similar to that reported in congenital and chronic cerebral toxoplasmosis in humans and mice

Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders which are etiologically heterogeneous. Chromosomal microarray is now recommended as the first-tier clinical diagnostic test for ASD. We performed chromosomal microarray in 16 Thai patients with ASD using an Illumina HumanCytoSNP-12 v2.1 array and found one case with uniparental disomy (UPD) of chromosome 15. Methylation-specific PCR showed abnormal methylation of the maternal SNRPN allele. Haplotype analysis revealed that the patient had received both chromosomes 15 from his father. These results were consistent with Angelman syndrome. However, his clinical features had no clinical significance for classic Angelman syndrome. He had first presented at the pediatric clinic with no speech, poor social interaction skills and repetitive behaviors consistent with ASD based on the DSM-IV criteria at 2 years of age and later confirmed by ADOS at 5 years of age. He was strikingly overweight but had no dysmorphic facies, seizures nor ataxia and was diagnosed as non-syndromic ASD, a diagnosis which was believed until at 10 years of age, his DNA was included for analysis in this current cohort study. Our findings suggest that ASD patients with unknown etiology should be considered for methylation-specific PCR testing for Angelman syndrome where chromosomal microarray is not available. In the study, we also review the clinical features of Angelman syndrome caused by UPD and the frequency of ASD in individuals with Angelman syndrome.

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Deterioration of clinical features of a patient with autism spectrum disorder after anti-N-methyl-D-aspartate receptor encephalitis

Psychiatry and Clinical Neurosciences ◽

10.1111/pcn.12323 ◽

2015 ◽

Vol 69 (8) ◽

pp. 507-507 ◽

Cited By ~ 2

Author(s):

Daisuke Kurita ◽

Tomoyasu Wakuda ◽

Shu Takagai ◽

Yukitoshi Takahashi ◽

Yasuhide Iwata ◽

...

Keyword(s):

Autism Spectrum Disorder ◽

Clinical Features ◽

Autism Spectrum ◽

Spectrum Disorder ◽

Aspartate Receptor

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Evidence of shared and distinct functional and structural brain signatures in schizophrenia and autism spectrum disorder

Communications Biology ◽

10.1038/s42003-021-02592-2 ◽

2021 ◽

Vol 4 (1) ◽

Author(s):

Yuhui Du ◽

Zening Fu ◽

Ying Xing ◽

Dongdong Lin ◽

Godfrey Pearlson ◽

...

Keyword(s):

Autism Spectrum Disorder ◽

Cognitive Control ◽

Clinical Features ◽

Gray Matter ◽

Functional Integration ◽

Network Connectivity ◽

Autism Spectrum ◽

Spectrum Disorder ◽

Large Sample Size ◽

Default Mode

AbstractSchizophrenia (SZ) and autism spectrum disorder (ASD) share considerable clinical features and intertwined historical roots. It is greatly needed to explore their similarities and differences in pathophysiologic mechanisms. We assembled a large sample size of neuroimaging data (about 600 SZ patients, 1000 ASD patients, and 1700 healthy controls) to study the shared and unique brain abnormality of the two illnesses. We analyzed multi-scale brain functional connectivity among functional networks and brain regions, intra-network connectivity, and cerebral gray matter density and volume. Both SZ and ASD showed lower functional integration within default mode and sensorimotor domains, but increased interaction between cognitive control and default mode domains. The shared abnormalties in intra-network connectivity involved default mode, sensorimotor, and cognitive control networks. Reduced gray matter volume and density in the occipital gyrus and cerebellum were observed in both illnesses. Interestingly, ASD had overall weaker changes than SZ in the shared abnormalities. Interaction between visual and cognitive regions showed disorder-unique deficits. In summary, we provide strong neuroimaging evidence of the convergent and divergent changes in SZ and ASD that correlated with clinical features.

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Family Physicians' Awareness of Autism Spectrum Disorder: Results from a Survey Study

Open Access Macedonian Journal of Medical Sciences ◽

10.3889/oamjms.2019.199 ◽

2019 ◽

Vol 7 (6) ◽

pp. 967-972 ◽

Cited By ~ 1

Author(s):

Mengühan Araz Altay

Keyword(s):

Autism Spectrum Disorder ◽

Clinical Features ◽

Neurodevelopmental Disorder ◽

Family Physicians ◽

Autism Spectrum ◽

Spectrum Disorder ◽

Survey Study ◽

Children With Asd ◽

Adequate Education ◽

Questionnaire Form

AIM: Autism spectrum disorder (ASD) is a common neurodevelopmental disorder in children. Family physicians with the first medical contact of children are among the most frequent physicians with ASD. We aimed to investigate family physicians' awareness of ASD. METHODS: This study was carried out family physicians in between September 25-October 15, 2018. The questionnaire form on autism awareness prepared by the researcher was delivered to family physicians electronically and in printed form, and it was filled out by volunteers. RESULTS: Forty-eight family physicians with an average professional experience of 16.9 ± 8.8 years participated in the study. A group of 66.7% of the participants had not previously received education on ASD, and 70.8% of them did not refer any child to child psychiatry with suspected ASD in the last 6 months. The participants stated that the most common clinical features in children with ASD were the inability to make eye contact (72.9%) and repetitive movements (47.9%), and 56.3% of them stated one or more features that are not observed in ASD. The compliance of the participants' answers about the clinical features observed in children with ASD with the DSM-5 criteria was determined to be 54.6 ± 18.4%. Significantly higher compliance rates were observed in the participants with education on autism and those working as a physician below 15 years. CONCLUSION: In our study, family physicians' awareness of ASD was not found to be adequate. Education programs on autism awareness should be applied to family physicians who are probably the most frequently encountered physicians by children with ASD.

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Neuroleptic Malignant Syndrome in Children with Autism Spectrum Disorder (ASD): A Case Report and Brief Review of Recent Literature

Children ◽

10.3390/children8121201 ◽

2021 ◽

Vol 8 (12) ◽

pp. 1201

Author(s):

Stefano Berloffa ◽

Claudia Dosi ◽

Benedetta Tascini ◽

Beatrice Fossati ◽

Ilaria Lupetti ◽

...

Keyword(s):

Autism Spectrum Disorder ◽

Case Report ◽

Neuroleptic Malignant Syndrome ◽

Clinical Features ◽

Autism Spectrum ◽

Spectrum Disorder ◽

Specific Population ◽

Life Threatening ◽

Available Information ◽

Malignant Catatonia

Neuroleptic malignant syndrome (NMS) is a rare, life-threatening, idiosyncratic adverse reaction to antipsychotic drugs. Despite the increasing rates in the prescription of antipsychotics in pediatric patients with autism spectrum disorder (ASD), little is known about the occurrence and hallmarks of NMS in this specific population. NMS appears to be part of the larger catatonia domain, based on the frequent relationship between ASD and catatonia, on the shared, when not overlapping, clinical features with malignant catatonia, and on the effectiveness of catatonia treatments on the NMS/MC symptoms. The intrinsic difficulties of exploring NMS in ASD in controlled studies accounts for the subsequent lack of available information. Based on recent reports and on our case report, clinical features of NMS in the pediatric ASD population appear to be the same as the non-ASD population. Further studies are needed to confirm these results.

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Gender Differences in the Suicide Attempts of Adolescents in Emergency Departments: Focusing on Individuals with Autism Spectrum Disorder

Adolescent Psychiatry ◽

10.2174/2210676609666190617144453 ◽

2020 ◽

Vol 9 (3) ◽

pp. 232-240

Author(s):

Katsunaka Mikami ◽

Seiji Inomata ◽

Yuichi Onishi ◽

Yasushi Orihashi ◽

Kenji Yamamoto ◽

...

Keyword(s):

Gender Differences ◽

Autism Spectrum Disorder ◽

Clinical Features ◽

Emergency Departments ◽

Adolescent Suicide ◽

Suicide Attempts ◽

Adjustment Disorder ◽

Autism Spectrum ◽

Spectrum Disorder ◽

Suicide Attempters

Background: Few studies on gender-based diagnostic characteristics of adolescent suicide attempters in emergency departments (EDs) have included individuals with autism spectrum disorder (ASD). Objective: This study aimed to examine the clinical features of adolescent suicide attempts in EDs, focusing on gender differences and considering individuals with ASD. Method: Ninety-four adolescent patients, aged less than 20 years, who had attempted suicide and had been hospitalized in an emergency department, participated in this study. Psychiatric diagnoses according to DSM-IV criteria and clinical features were compared between male and female patients. Results: The number (%) of males was 15 (16.0), and that of females was 79 (84.0). The mean age (SD) of males was 17.1 (1.5), and that of females was 16.9 (1.6). The attempt methods were more serious, length of stay in the emergency room longer, and rate of outpatient treatment lower in males. In addition, suicide attempters with ASD were significantly more frequent in male. Adjusting for age and gender, adjustment disorder was significantly associated with the presence of suicide attempters with ASD using a multivariable logistic regression. Conclusion: Males were less likely to visit psychiatric service previous to attempting suicides, and may be likely to complete suicides. In addition, suicide attempters with ASD are characteristic in male, and likely to have comorbid adjustment disorder. ED visits offer a window of opportunity to provide suicide prevention interventions for adolescents, and therefore, psychiatrists in EDs have a crucial role as gatekeepers of preventing suicide reattempts, especially in adolescent males including individuals with ASD having adjustment disorder.

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Clinical features and diagnosis of autism spectrum disorder in children

Current Medical Issues ◽

10.4103/0973-4651.200297 ◽

2017 ◽

Vol 15 (1) ◽

pp. 6 ◽

Cited By ~ 2

Author(s):

Beena Koshy ◽

SusanMary Zachariah ◽

SamuelPhilip Oommen

Keyword(s):

Autism Spectrum Disorder ◽

Clinical Features ◽

Autism Spectrum ◽

Spectrum Disorder

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