scholarly journals A large-scale screen for coding variants in SERT/SLC6A4in autism spectrum disorders

2008 ◽  
Vol 1 (4) ◽  
pp. 251-257 ◽  
Author(s):  
Takeshi Sakurai ◽  
Jennifer Reichert ◽  
Ellen J. Hoffman ◽  
Guiqing Cai ◽  
Hywel B. Jones ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Large Scale ◽  
Autism Spectrum ◽  
Spectrum Disorders ◽  
Coding Variants

scholarly journals Current state of evidence of cannabis utilization for treatment of autism spectrum disorders

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Rumi Agarwal ◽  
Shanna L. Burke ◽  
Marlaina Maddux
Keyword(s):  
Autism Spectrum Disorders ◽  
Large Scale ◽  
Autism Spectrum ◽  
Adverse Outcomes ◽  
Cannabis Use ◽  
Care Providers ◽  
Risks And Benefits ◽  
Current State ◽  
Spectrum Disorders ◽  
The Impact

Abstract The core symptoms and co-morbidities associated with autism spectrum disorders (ASD) affect daily living and quality of life. Existing pharmacological interventions are only able to attenuate some related symptoms but are unable to address the underlying etiologies associated with ASD. Anecdotal evidence, which claims benefit from the use of cannabis to treat symptoms among this population, has been gaining popularity as families seek solutions. This paper analyzed recent peer-reviewed literature to identify the current state of evidence regarding cannabis use for the ASD population. Systematic reviews, reports, and experimental studies were assessed to understand the current extent and nature of the evidence on the risks and benefits of cannabis use for ASD. At this time, three large-scale clinical trials are currently at varying stages of progress and publication of results. Only five small studies were identified that have specifically examined cannabis use in ASD. Given the sparse state of evidence directly assessed in this population, studies which examined effects of cannabis on shared pathological symptoms of ASD such as hyperactivity, sleep disorders, self-injury, anxiety, behavioral problems, and communication were also reviewed. Studies revealed mixed and inconclusive findings of cannabis effects for all conditions, except epilepsy. Adverse outcomes were also reported, which included severe psychosis, increased agitation, somnolence, decreased appetite, and irritability. In addition, a wide range of cannabis compositions and dosage were identified within the studies, which impact generalizability. There is currently insufficient evidence for cannabis use in ASD, which creates an urgent need for additional large-scale controlled studies to increase understanding of risks and benefits and also to examine the impact of “entourage effects.” This will support discussions of treatment options between health care providers and ASD patients and their families. Evidence may lead to a desired new line of treatment or prevent adverse outcomes from unsubstantiated use amongst families aiming for symptom reduction.

scholarly journals Excess of non-verbal cases of autism spectrum disorders (ASDs) presenting to orthodox clinical practice in Africa - a trend possibly resulting from late diagnosis and intervention

2011 ◽  
Vol 17 (4) ◽  
pp. 3 ◽  
Author(s):  
Muideen O Bakare ◽  
Kerim M Munir
Keyword(s):  
Autism Spectrum Disorders ◽  
Clinical Practice ◽  
Large Scale ◽  
Expressive Language ◽  
Case Reports ◽  
Case Series ◽  
Autism Spectrum ◽  
Language Ability ◽  
Common Denominator ◽  
Spectrum Disorders

<p><strong>Objectives.</strong> Characteristics of children with autism spectrum disorders (ASDs) in Africa are not known because of unavailability of large-scale epidemiological studies in this region. This review explored the age at first presentation to orthodox clinical practice of African children with ASDs and their expressive language ability at presentation.</p><p><strong>Methods.</strong> A literature search of case series and case reports of ASDs from Africa was done through PubMed/MEDLINE, Google Scholar, African Journals Online (AJOL), and archives of the Nigerian Journal of Psychiatry. Six articles included content relating to age of the child at first presentation to orthodox clinical practice and symptoms at presentation related to expressive language ability and therefore fulfilled the inclusion criteria. Suggestions are made to explain the observations emanating from the review.<strong> </strong></p><p><strong>Results.</strong> An excess of non-verbal over verbal cases of ASDs have been presenting to orthodox clinical practice and there is a common denominator of late presentation/diagnosis and in turn late intervention, with most cases presenting for the first time well above 8 years of age. Attempts to explain these observations included low levels of knowledge and awareness about ASDs in Africa; problems with help-seeking behaviour; and lack of mental healthcare facilities and trained personnel.</p><p><strong>Conclusions.</strong> Enhancement of processes directed at ensuring early diagnosis and interventions, especially interventions aimed at improving speech and language development well and sufficiently early, may bring about a shift in the trend of excess non-verbal cases of ASDs over verbal cases presenting to orthodox clinical practice.</p>

scholarly journals Autism Spectrum Disorders in Greece: Nationwide Prevalence in 10–11 Year-Old Children and Regional Disparities

2020 ◽  
Vol 9 (7) ◽  
pp. 2163
Author(s):  
Loretta Thomaidis ◽  
Nikoletta Mavroeidi ◽  
Clive Richardson ◽  
Antigoni Choleva ◽  
George Damianos ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Large Scale ◽  
Autism Spectrum ◽  
Service Planning ◽  
Age At Diagnosis ◽  
Health Concern ◽  
Educational Support ◽  
Service Accessibility ◽  
Spectrum Disorders ◽  
Estimate Prevalence

Autism spectrum disorders (ASD) constitute a public health concern with increasing prevalence worldwide. We aimed to estimate prevalence and age at diagnosis in Greece, where no large-scale prevalence study has ever been conducted. Aggregate data were collected on ASD diagnoses by gender and calendar year of diagnosis up to 2019, for children born in 2008 and 2009, from the Centers for Educational and Counseling Support, which evaluate children to receive special educational support in school. Coverage was 87.1% of centers and 88.1% of schoolchildren born in 2008–9. ASD prevalence overall was 1.15% (1.83% males, 0.44% females; ratio 4.14:1), ranging from 0.59% to 1.50% in Greece’s 13 regions. In five regions, prevalence differed significantly between centers. Overall, only 3.8% of diagnoses were made before the fourth year after birth and 42.7% before the sixth year, with considerable variation between regions. Approximate mean age at diagnosis was six years and one month, and about three months earlier for girls than for boys. Our results provide evidence-based information to guide service planning and development at national and regional levels. Particular attention should be paid to smoothing out inequalities regarding service accessibility and provision. Emphasis should be given to earlier identification and diagnosis of ASD.

scholarly journals No Association between the rs1799836 Polymorphism of the Monoamine Oxidase B Gene and the Risk of Autism Spectrum Disorders in the Kazakhstani Population

2019 ◽  
Vol 2019 ◽  
pp. 1-6 ◽  
Author(s):  
Anastassiya V. Perfilyeva ◽  
Kira B. Bespalova ◽  
Liliya A. Skvortsova ◽  
Assel Surdeanu ◽  
Aleksandr A. Garshin ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Large Scale ◽  
Genetic Factors ◽  
Genetic Variant ◽  
Autism Spectrum ◽  
Healthy Siblings ◽  
Hardy Weinberg Equilibrium ◽  
Spectrum Disorders ◽  
And Control ◽  
Gender Specific

Autism spectrum disorders (ASDs) are heterogeneous diseases that are triggered by a number of environmental and genetic factors. The aim of the current study was to investigate an association of the rs1799836 genetic variant of the neurotransmitter-related gene MAOB with ASDs. In total, 262 patients diagnosed with ASDs and their 126 healthy siblings were included in the present study. All individuals represented a Kazakhstani population. The distributions of the rs1799836 genotype were in accordance with the Hardy-Weinberg equilibrium among both cases and controls. No statistically significant differences were found in the allelic distributions of this polymorphism between ASD and control subjects (A/G: for males OR=1.11, 95% 0.59-2.06, p=0.75; for females OR=1.14, 95% 0.70-1.86, p=0.76). However, the increased score in the overall CARS was significantly associated with the A allele of rs1799836 MAOB for females (OR=2.31, 95% 1.06-5.04, p=0.03). The obtained results suggest that the rs1799836 polymorphism of the MAOB gene may have little contribution to the development of ASDs but may be involved in pathways contributing to ASD symptom severity in females. Further large-scale investigations are required to uncover possible relationships between rs1799836 MAOB and ASD progression in a gender-specific manner and their possible application as a therapeutic target.

scholarly journals Cortical Thickness Abnormalities in Autism Spectrum Disorders Through Late Childhood, Adolescence, and Adulthood: A Large-Scale MRI Study

2017 ◽  
Vol 27 (3) ◽  
pp. 1721-1731 ◽  
Author(s):  
Budhachandra S. Khundrakpam ◽  
John D. Lewis ◽  
Penelope Kostopoulos ◽  
Felix Carbonell ◽  
Alan C. Evans
Keyword(s):  
Autism Spectrum Disorders ◽  
Cortical Thickness ◽  
Large Scale ◽  
Autism Spectrum ◽  
Late Childhood ◽  
Spectrum Disorders ◽  
Mri Study

scholarly journals Schizophrenia, autism spectrum disorders and developmental disorders share specific disruptive coding mutations

2020 ◽  
Author(s):  
Elliott Rees ◽  
Hugo Creeth ◽  
Hai-Gwo Hwu ◽  
Wei Chen ◽  
Ming Tsuang ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Intellectual Disability ◽  
Neurodevelopmental Disorders ◽  
Developmental Disorders ◽  
De Novo ◽  
Autism Spectrum ◽  
Risk Genes ◽  
Spectrum Disorders ◽  
Coding Variants ◽  
Shared Risk

Abstract Genes enriched for rare disruptive coding variants in schizophrenia overlap those in which disruptive mutations are associated with neurodevelopmental disorders (NDDs), particularly autism spectrum disorders and intellectual disability. However, it is unclear whether this implicates the same specific variants, or even variants with the same functional effects on shared risk genes. Here, we show that de novo mutations in schizophrenia are generally of the same functional category as those that confer risk for NDDs, and that the specific de novo mutations in NDDs are enriched in schizophrenia. These findings indicate that, in part, NDDs and schizophrenia have shared molecular aetiology, and therefore likely overlapping pathophysiology. We also observe pleiotropic effects for variants known to be pathogenic for several syndromic developmental disorders, suggesting that schizophrenia should be included among the phenotypes associated with these mutations. Collectively, our findings support the hypothesis that at least some forms of schizophrenia lie within a continuum of neurodevelopmental disorders.

scholarly journals Schizophrenia, autism spectrum disorders and developmental disorders share specific disruptive coding mutations

2020 ◽  
Author(s):  
Elliott Rees ◽  
Hugo D. J. Creeth ◽  
Hai-Gwo Hwu ◽  
Wei J. Chen ◽  
Ming Tsuang ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Intellectual Disability ◽  
Neurodevelopmental Disorders ◽  
Developmental Disorders ◽  
De Novo ◽  
Autism Spectrum ◽  
Risk Genes ◽  
Spectrum Disorders ◽  
Coding Variants ◽  
Shared Risk

AbstractGenes enriched for rare disruptive coding variants in schizophrenia overlap those in which disruptive mutations are associated with neurodevelopmental disorders (NDDs), particularly autism spectrum disorders and intellectual disability. However, it is unclear whether this implicates the same specific variants, or even variants with the same functional effects on shared risk genes. Here, we show that de novo mutations in schizophrenia are generally of the same functional category as those that confer risk for NDDs, and that the specific de novo mutations in NDDs are enriched in schizophrenia. These findings indicate that, in part, NDDs and schizophrenia have shared molecular aetiology, and therefore likely overlapping pathophysiology. We also observe pleiotropic effects for variants known to be pathogenic for several syndromic developmental disorders, suggesting that schizophrenia should be included among the phenotypes associated with these mutations. Collectively, our findings support the hypothesis that at least some forms of schizophrenia lie within a continuum of neurodevelopmental disorders.

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