Detection of CYP2D6 polymorphism using Luminex xTAG technology in autism spectrum disorder: CYP2D6 activity score and its association with risperidone levels

2016 ◽  
Vol 33 (S1) ◽  
pp. S93-S94
Author(s):  
C. Sukasem ◽  
S. Santon
Keyword(s):  
Autism Spectrum Disorder ◽  
Plasma Concentration ◽  
Plasma Concentrations ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Activity Score ◽  
Cyp2d6 Polymorphism ◽  
Cyp2d6 Activity ◽  
Luminex Assay ◽  
Competing Interest

IntroductionThe determination of the accurate CYP2D6 genotyping is essential in the clinical setting and individualization of drug therapy.ObjectivesIn this study, was to apply the Luminex xTAG technology to detect significant CYP2D6 polymorphisms and copy number variation, including assessment the relationship of CYP2D6 polymorphisms and risperidone plasma concentration in autism spectrum disorder children (ASD) treated with risperidone.MethodsAll 84 ASD patients included in this study had been receiving risperidone at least for 1 month. The CYP2D6 genotypes were determined by luminex assay. Plasma concentrations of risperidone and 9-hydroxyrisperidone were measured using LC/MS/MS.ResultsAmong the 84 patients, the most common genotype was CYP2D6*1/*10 (26.19%). The most common allele was CYP2D6*10 (51.79%) and the second most allele was CYP2D6*1 (27.98%). There were 46 (55.42%) classified as EM, 33 (39.76%) as IM, and 4 (4.82%) as UM. The plasma concentration of risperidone and risperidone/9-hydroxyrisperidone ratio in the patients were significant differences among the CYP2D6 predicted phenotype group (P = 0.001 and P < 0.0001, respectively). Moreover, the plasma concentration of risperidone and risperidone/9-hydroxyrisperidone ratio in the patients with CYP2D6 activity score 0.5 were significantly higher than those with the CYP2D6 activity score 2.0 (P = 0.004 and P = 0.002, respectively).DiscussionsThe present study suggests that it would be ideal to identify the CYP2D6 genotype of patients before prescribing and administering risperidone. Furthermore, the use of CYP2D6 gene scoring system to determine an individual's metabolic capacity may become an essential tool for a more rational and safer drug administration.Disclosure of interestThe authors have not supplied their declaration of competing interest.

Detection of CYP2D6 polymorphism using Luminex xTAG technology in autism spectrum disorder: CYP2D6 activity score and its association with risperidone levels

2016 ◽  
Vol 31 (2) ◽  
pp. 156-162 ◽  
Author(s):  
Natchaya Vanwong ◽  
Nattawat Ngamsamut ◽  
Yaowaluck Hongkaew ◽  
Nopphadol Nuntamool ◽  
Apichaya Puangpetch ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Activity Score ◽  
Cyp2d6 Polymorphism ◽  
Cyp2d6 Activity

Comparison of cognitive functions children with the autism spectrum disorders and schizophrenia

2017 ◽  
Vol 41 (S1) ◽  
pp. S457-S458
Author(s):  
N. Zvereva ◽  
N. Simashkova ◽  
A. Koval-Zaitsev
Keyword(s):  
Autism Spectrum Disorder ◽  
Visual Perception ◽  
Cognitive Functioning ◽  
Cognitive Functions ◽  
Early Onset ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Early Onset Schizophrenia ◽  
Competing Interest ◽  
Autistic Disorders

IntroductionAutism spectrum disorder and early onset schizophrenia have many similar symptoms, however, these are different disorders. It is important to identify the main similarities\differences in the structure of cognitive impairment to define further assistance these children correctly. We distinguished two options for cognitive defect (total and partial) in children with schizophrenia.AimsComparison of cognitive functions at children with autism spectrum disorder and early onset schizophrenia.ObjectivesTwo groups with autism spectrum disorder (ASD1 – 22 patients of MHRC mean age 8.9; ASD2 – 27 pupils of special school mean age 7,4). Two groups with early onset schizophrenia (F20.8 – 16 patients of MHRC mean age 10,2; F21 – 18 patients of MHRC mean age 10.0).MethodsBattery of pathopsychological tests for assessing cognitive functions (memory, attention, thinking), test figures of Leeper for visual perception. Z-scales were used for estimation of cognitive deficit or defect.ResultsPatients demonstrate variety of cognitive functioning. Normal cognitive functioning: ASD1* – 22%, F20.8 – 18%, F21* – 50% (* – P ≤ 0.05); partial cognitive defect: ASD1 – 27%, F20.8 – 18%, F21 – 22%; total cognitive defect: ASD1** – 50%, F20.8 – 64%, F21** – 27% (** – P ≤ 0.01). ASD1 and F20 were the worth in thinking. Children ASD1 and ASD2 demonstrate similar success in recognizing Leeper's figures.ConclusionsThere are some common features of cognitive development in children with severe forms of ASD and early onset schizophrenia, first of all in thinking.No significant differences obtained between severe – mild forms of autistic disorders in visual perception (ASD1 and ASD2).Disclosure of interestThe authors have not supplied their declaration of competing interest.

Assessment of cognitive profile (WISC-IV), autistic symptomatology and pragmatic disorders in high intellectual potential compared with autism spectrum disorder

2016 ◽  
Vol 33 (S1) ◽  
pp. S129-S129
Author(s):  
A. Boschi ◽  
P. Planche ◽  
A. Philippe ◽  
L. Vaivre-douret
Keyword(s):  
Autism Spectrum Disorder ◽  
High Functioning Autism ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Area Of Interest ◽  
Empathy Quotient ◽  
Z Scores ◽  
Competing Interest ◽  
Perceptual Reasoning ◽  
Intellectual Potential

IntroductionAn overlap between autism spectrum disorder (ASD), in particular Asperger Syndrome (AS), and high intellectual potential (HIP–Total IQ > 2 SD) is often discussed.ObjectivesExplore differences between homogeneous and heterogeneous Wisc-profiles among HIP children, and between HIP and ASD children, on cognitive and clinical assessments.MethodsForty-nine participants (mean age 11.2 years) were divided in 4 groups: High Functioning Autism (HFA), AS, Homogenous HIP and Heterogeneous HIP. Data of WISC-IV and questionnaires – Autism Quotient (AQ), Empathy Quotient (EQ), Systemizing Quotient (SQ), Children's Communication Checklist (CCC) – were compared.(Preliminary) ResultsOn the WISC-IV, the Z scores curves follow similar trajectories but highlight quantitative differences between AS and heterogeneous HIP: verbal comprehension is the highest index (+1,6 SD in AS; +3,1 SD in heterogeneous HIP) followed by perceptual reasoning, working memory, and processing speed indexes (–1,2 SD in AS; +0,5 SD in heterogeneous HIP), respectively. The questionnaires show that scores of Homogenous HIP children are all in the average. Heterogeneous HIP children score 2,1 SD above average on the AQ (+1,6 SD on “Social Skills” and +1,3 SD on “Local Detail” subscales), whereas ASD children score 4 SD above average on the AQ. In addition, heterogeneous HIP children show pragmatic difficulties (–2,4 SD on the CCC, with a peak on “Area of Interest” subscale), also present in ASD children (–4 SD).ConclusionsAS and heterogeneous HIP children show similar cognitive profiles on the WISC-IV. Furthermore, heterogeneous HIP children exhibit high scores on the AQ and have pragmatic difficulties.Disclosure of interestThe authors have not supplied their declaration of competing interest.

Plasma concentrations of the trace elements copper, zinc and selenium in Brazilian children with autism spectrum disorder

2018 ◽  
Vol 106 ◽  
pp. 605-609 ◽  
Author(s):  
Paula Fabiana Saldanha Tschinkel ◽  
Geir Bjørklund ◽  
Lourdes Zélia Zanoni Conón ◽  
Salvatore Chirumbolo ◽  
Valter Aragão Nascimento
Keyword(s):  
Autism Spectrum Disorder ◽  
Trace Elements ◽  
Plasma Concentrations ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Copper Zinc ◽  
Brazilian Children

Autism-plus spectrum disorders: Interfaces with psychosis

2016 ◽  
Vol 33 (S1) ◽  
pp. S356-S356
Author(s):  
I. Peixoto ◽  
R. Velasco Rodrigues ◽  
C. Marques
Keyword(s):  
Autism Spectrum Disorder ◽  
Differential Diagnosis ◽  
Clinical Case ◽  
Psychotic Disorders ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Case Vignette ◽  
The Face ◽  
Competing Interest ◽  
Definition Of

IntroductionDespite categorical differentiation, autistic and psychotic disorders are historically related diagnostic entities and there is still much controversy regarding their limits and developmental course. Particularly in children, the presence of idiosyncratic fears, difficulties in the social sphere and thought disorder are important factors in the differential diagnosis. There are some research-derived clinical constructs that operationalize symptomatology aiming to highlight the interfaces and the overlap between such disorders. Their clinical implications can be extremely relevant in the face of the limits of current nosology.ObjetivesTo phenomenologically describe differentiating parameters and high-risk clinical profiles for the development of psychosis in children with autism spectrum disorder.MethodsSelective review of the literature in PubMed (MEDLINE). Illustration with a clinical case vignette.ResultsThe clinical case reflects well the difficulties posed in the differential diagnosis due to the multiple interfaces between autism and psychosis. Constructs such as “multiple complex developmental disorder” or “multidimensionally impaired syndrome” allow a clearer and more practice-friendly characterization of such individuals.ConclusionThe constelation of symptoms identified in these criteria may become useful through the definition of subgroups of autism spectrum disorder individuals with complex psychopathology. Studies in this regard are still scarce, but the validation and reproduction of the positive results observed in the near future can help optimize the clinical approaches in these children.Disclosure of interestThe authors have not supplied their declaration of competing interest.

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