scholarly journals Screening of 50 Cypriot Patients with Autism Spectrum Disorders or Autistic Features Using 400K Custom Array-CGH

2013 ◽  
Vol 2013 ◽  
pp. 1-5 ◽  
Author(s):  
Ludmila Kousoulidou ◽  
Maria Moutafi ◽  
Paola Nicolaides ◽  
Stavros Hadjiloizou ◽  
Christos Christofi ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Developmental Disorders ◽  
Array Cgh ◽  
De Novo ◽  
Autism Spectrum ◽  
Copy Number Variations ◽  
Comparative Genomic ◽  
Normal Individuals ◽  
Spectrum Disorders ◽  
Clinical Description

Autism spectrum disorders (ASDs) comprise a distinct entity of neurodevelopmental disorders with a strong genetic component. Despite the identification of several candidate genes and causative genomic copy number variations (CNVs), the majority of ASD cases still remain unresolved. We have applied microarray-based comparative genomic hybridization (array-CGH) using Agilent 400K custom array in the first Cyprus population screening for identification of ASD-associated CNVs. A cohort of 50 ASD patients (G1), their parents (G2), 50 ethnically matched normal controls (G3), and 80 normal individuals having children with various developmental and neurological conditions (G4) were tested. As a result, 14 patients were found to carry 20 potentially causative aberrations, two of which werede novo. Comparison of the four population groups revealed an increased rate of rare disease-associated variants in normal parents of children with autism. The above data provided additional evidence, supporting the complexity of ASD aetiology in comparison to other developmental disorders involving cognitive impairment. Furthermore, we have demonstrated the rationale of a more targeted approach combining accurate clinical description with high-resolution population-oriented genomic screening for defining the role of CNVs in autism and identifying meaningful associations on the molecular level.

scholarly journals Identification of Copy Number Variation by Array-CGH in Portuguese Children and Adolescents Diagnosed with Autism Spectrum Disorders

2019 ◽  
Vol 50 (06) ◽  
pp. 367-377
Author(s):  
S. Monteiro ◽  
J. Pinto ◽  
A. Mira Coelho ◽  
M. Leão ◽  
S. Dória
Keyword(s):  
Autism Spectrum Disorders ◽  
Copy Number ◽  
Array Cgh ◽  
Chromosomal Abnormalities ◽  
Daily Practice ◽  
Autism Spectrum ◽  
Copy Number Variations ◽  
Comparative Genomic ◽  
Uncertain Significance ◽  
Spectrum Disorders

Background Autism spectrum disorders (ASD) affect many children with an estimated prevalence of 1%. Array-comparative genomic hybridization (CGH) offers significant sensitivity for the identification of submicroscopic chromosomal abnormalities and it is one of the most used techniques in daily practice. The main objective of this study was to describe the usefulness of array-CGH in the etiologic diagnosis of ASD. Methods Two-hundred fifty-three patients admitted to a neurogenetic outpatient clinic and diagnosed with ASD were selected for array-CGH (4 × 180K microarrays). Public databases were used for classification in accordance with the American College of Medical Genetics Standards and Guidelines. Results About 3.56% (9/253) of copy number variations (CNVs) were classified as pathogenic. When likely pathogenic CNVs were considered, the rate increased to 11.46% (29/253). Some CNVs apparently not correlated to the ASD were also found. Considering a phenotype–genotype correlation, the patients were divided in two groups. One group according to previous literature includes all the CNVs related to ASDs (23 CNVs present in 22 children) and another with those apparently not related to ASD (10 CNVs present in 7 children). In 18 patients, a next-generation sequencing (NGS) panel were performed. From these, one pathogenic and 16 uncertain significance variants were identified. Conclusion The results of our study are in accordance with the literature, highlighting the relevance of array-CGH in the genetic of diagnosis of ASD population, namely when associated with other features. Our study also reinforces the need for complementarity between array-CGH and NGS panels or whole exome sequencing in the etiological diagnosis of ASD.

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

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Elliott Rees ◽  
Hugo D. J. Creeth ◽  
Hai-Gwo Hwu ◽  
Wei J. Chen ◽  
Ming Tsuang ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Neurodevelopmental Disorders ◽  
Developmental Disorders ◽  
De Novo ◽  
Neurodevelopmental Disorder ◽  
Autism Spectrum ◽  
Increase Risk ◽  
Spectrum Disorders ◽  
Using Data ◽  
Shared Risk

AbstractPeople with schizophrenia are enriched for rare coding variants in genes associated with neurodevelopmental disorders, particularly autism spectrum disorders and intellectual disability. However, it is unclear if the same changes to gene function that increase risk to neurodevelopmental disorders also do so for schizophrenia. Using data from 3444 schizophrenia trios and 37,488 neurodevelopmental disorder trios, we show that within shared risk genes, de novo variants in schizophrenia and neurodevelopmental disorders are generally of the same functional category, and that specific de novo variants observed in neurodevelopmental disorders are enriched in schizophrenia (P = 5.0 × 10−6). The latter includes variants known to be pathogenic for syndromic disorders, suggesting that schizophrenia be included as a characteristic of those syndromes. Our findings imply that, in part, neurodevelopmental disorders and schizophrenia have shared molecular aetiology, and therefore likely overlapping pathophysiology, and support the hypothesis that at least some forms of schizophrenia lie on 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 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.

scholarly journals Association of Copy Number Variations in Autism Spectrum Disorders: A Systematic Review

2014 ◽  
Vol 2014 ◽  
pp. 1-9 ◽  
Author(s):  
Elif Funda Sener
Keyword(s):  
Autism Spectrum Disorders ◽  
Complex Traits ◽  
Copy Number ◽  
De Novo ◽  
Genome Structure ◽  
Autism Spectrum ◽  
Copy Number Variations ◽  
Repetitive Behaviors ◽  
Wide Range ◽  
Spectrum Disorders

Autism spectrum disorders (ASDs) are characterized by language impairments, social deficits, and repetitive behaviors. The onset of symptoms occurs by the age of 3 and shows a lifelong persistence. Genetics plays a major role in the etiology of ASD. Except genetics, several potential risk factors (environmental factors and epigenetics) may contribute to ASD. Copy number variations (CNVs) are the most widespread structural variations in the human genome. These variations can alter the genome structure either by deletion or by duplication. CNVs can be de novo or inherited. Chromosomal rearrangements have been detected in 5–10% of the patients with ASD and recently copy number changes ranging from a few kilobases (kb) to several megabases (Mb) in size have been reported. Recent data have also revealed that submicroscopic CNVs can have a role in ASD, and de novo CNVs seem to be a more common risk factor in sporadic compared with inherited forms of ASD. CNVs are being implicated as a contributor to the pathophysiology of complex neurodevelopmental disorders and they can affect a wide range of human phenotypes including mental retardation (MR), autism, neuropsychiatric disorders, and susceptibility to other complex traits such as HIV, Crohn’s disease, and psoriasis. This review emphasizes the major CNVs reported to date in ASD.

AUTMINER: A SYSTEM FOR EXTRACTING ASD-RELATED GENES USING TEXT MINING

2011 ◽  
Vol 19 (01) ◽  
pp. 113-125 ◽  
Author(s):  
LEJUN GONG ◽  
XIAO SUN ◽  
DONGKE JIANG ◽  
SHENGTAO GONG
Keyword(s):  
Autism Spectrum Disorders ◽  
Text Mining ◽  
Genetic Screening ◽  
Gene Network ◽  
Developmental Disorders ◽  
Autism Spectrum ◽  
Major Focus ◽  
Genetic Complexity ◽  
Spectrum Disorders ◽  
Reference Tool

Autism spectrum disorders (ASD) represent a group of developmental disorders with strong genetic underpinnings. To explore the genetic complexity of ASD, we developed AutMiner (), a public web-portal for the collection of genes linked to ASD, and the implementation of an autism-centre network. AutMiner extracts candidate genes associated with ASD using text mining from 9276 abstracts. Compared to other recent systems, gene entries are richer to provide a reference for clinical geneticists. AutMiner also constructs ASD-related network consisting of autism-gene network and gene-gene network. To the best of our knowledge, this is the first web example of ASD-related network. The major focus of AutMiner is to offer a valuable reference tool for clinical geneticists in establishing and implementing effective genetic screening programmes for those patients with ASD.

scholarly journals CACNA1D De Novo Mutations in Autism Spectrum Disorders Activate Cav1.3 L-Type Calcium Channels

2015 ◽  
Vol 77 (9) ◽  
pp. 816-822 ◽  
Author(s):  
Alexandra Pinggera ◽  
Andreas Lieb ◽  
Bruno Benedetti ◽  
Michaela Lampert ◽  
Stefania Monteleone ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Calcium Channels ◽  
De Novo ◽  
Autism Spectrum ◽  
De Novo Mutations ◽  
Spectrum Disorders

scholarly journals LA ACTUACION SANITARIA EN ATENCIÓN TEMPRANA PARA PERSONAS CON TRASTORNO DE ESPECTRO AUTISTA (TEA): UNA EXPERIENCIA EN ANDALUCÍA

2017 ◽  
Vol 7 (1) ◽  
pp. 463
Author(s):  
Mª Araceli Sánchez Raya
Keyword(s):  
Health Care ◽  
Autism Spectrum Disorders ◽  
Early Intervention ◽  
Early Detection ◽  
Functional Recovery ◽  
Developmental Disorders ◽  
Autism Spectrum ◽  
Theoretical Interest ◽  
Children With Asd ◽  
Spectrum Disorders

Abstract.It is undeniable the importance of early detection in all developmental disorders, in children with ASD as well, for an early intervention in children and their families. An early intervention is a very important predictor in their functional recovery. That, put together with the growing incidence and prevalence of this kind of disorders, makes of our study field a matter of an increasing scientific and theoretical interest. In the current paper we deal with earlydetection, evaluation and intervention in children between 0 and 6 years with autism spectrum disorders in andalusian health care system.Resumen.Es innegable la importancia que tiene la detección precoz de cualquier trastorno del desarrollo –y por ende del TEA- para la intervención temprana con los menores y sus familias. Una intervención temprana constituye un importante predictor en la recuperación funcional de estos menores, y esto unido a la creciente incidencia y prevalencia de estos trastornos, hace de nuestro objeto de estudio un tema creciente de gran interés científico y teórico. En la presente comunicación abordamos el circuito de detección, evaluación e intervención temprana en niñas y niños de 0 a 6 años con trastorno del espectro autista en la sanidad andaluza.

Experience in the use of transcranial micro polarization in children with autism spectrum disorders

2021 ◽  
Vol 2 (1) ◽  
pp. 22-28
Author(s):  
Ludmila M. Kuzenkova ◽  
Anna V. Lashkova ◽  
Olga M. Konova ◽  
Tatyana G. Petelguzova
Keyword(s):  
Autism Spectrum Disorders ◽  
Developmental Disorders ◽  
Children With Autism ◽  
Social Situation ◽  
Treatment Method ◽  
Autism Spectrum ◽  
Clinical Diagnoses ◽  
Spectrum Disorders ◽  
Autistic Disorders ◽  
Positive Effect

Introduction. Autism is a disorder characterized by social interaction disorders, social-emotional reciprocity, responses to other people’s emotions, social use of speech skills, lack of modulations of behavior under the social situation, and limited interest stereotypes. The comprehensive approach using medical and psychological correction with physical methods of influence provides the best result in treating and rehabilitating children with autism. The original study examined the effects of transcranial micro polarization (TCMP) on the dynamics of autistic disorders. TCMP is a modern treatment method consisting of a directed polarizing impact of a low-power DC on specific brain areas. Materials and methods. There were observed 25 children aged from 2 years five months to 6 years with varying degrees of severity of autism spectrum disorders (ASD). For the study, three groups were identified according to the corresponding clinical diagnoses: Childhood autism, Atypical autism, and Other general developmental disorders. The vast majority of children from the first two groups had an intellectual disability of varying severity. The TCMP method was used to assess the technique’s effectiveness, the CARS diagnostic scale and the ATEK test. Results. At the end of the course, with the use of TCMP in all the analyzed groups, there was a shift towards a milder degree of autistic disorders. The most significant positive effect was recorded in children with mild forms of autism in the group of other general developmental disorders due to the initially higher level of development in this group. Conclusion. The results obtained demonstrate the effectiveness of TCMP in ASD children. According to the results of the study, the positive effect of this method was revealed in the form of reducing the severity of autistic disorders.

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