CONSUMO DE SUSTANCIAS EN TRASTORNO DEL ESPECTRO AUTISTA: ¿SÍNTOMA O COMORBILIDAD?

2021 ◽  

Descripción del caso Varón de 24 años diagnosticado de Trastorno del Especto Autista en la adolescencia que inicia consumo de sustancias con 15 años. En el momento actual se encuentra independizado realizando estudios superiores. Su único soporte social es su pareja. Ingresa por amenazas autolíticas ante la imposibilidad de consumir tóxicos. Intervención El paciente presenta, desde el inicio de su seguimiento, una evolución tórpida derivada principalmente del consumo y de las conductas de búsqueda de sustancias psicoactivas. A los 15 años inicia el uso de tóxicos con cannabis y dextrometorfano, a los 17 años ya consumía semanalmente heroína y cocaína fumadas, dicho consumo se ha mantenido hasta la actualidad. Presenta múltiples ingresos por intentos autolíticos. Ha tenido conflictos legales llegando incluso a cumplir condenas de privación de libertad. El patrón de consumo es rígido, asociado a un interés restringido por el uso de sustancias y la experimentación de estados alterados de conciencia. Al explorar sus intereses el paciente cita las sustancias psicoactivas, la lingüística y la política china. Resultados y conclusiones: Las características clínicas más llamativas del Trastorno de Espectro Autista son la dificultad en la interacción social así como los intereses restringidos y las conductas repetitivas y esterotipadas. Suscita dudas sobre qué papel tiene el consumo de tóxicos en este caso, como síntoma (intereses restringidos que condicionan la actividad diaria), también se puede entender como una comorbilidad que ensombrece el pronóstico y evolución. Bibliografia 1. Kunreuther E. Autism Spectrum Disorder and Substance Use Disorder. Child and Adolescent Psychiatric Clinics of North America. Elsevier BV; 2020Jul;29(3):467–81. Available from: https://doi.org/10.1016/j.chc.2020.03.002 2. Ressel M, Thompson B, Poulin M-H, Normand CL, Fisher MH, Couture G, et al. Systematic review of risk and protective factors associated with substance use and abuse in individuals with autism spectrum disorders. Autism. SAGE Publications; 2020May;24(4):899–918. Available from: https://doi.org/10.1177/1362361320910963

Cells ◽  
2021 ◽  
Vol 10 (8) ◽  
pp. 1976
Author(s):  
Bianka Hoxha ◽  
Malvina Hoxha ◽  
Elisa Domi ◽  
Jacopo Gervasoni ◽  
Silvia Persichilli ◽  
...  

Folic acid has been identified to be integral in rapid tissue growth and cell division during fetal development. Different studies indicate folic acid’s importance in improving childhood behavioral outcomes and underline its role as a modifiable risk factor for autism spectrum disorders. The aim of this systematic review is to both elucidate the potential role of folic acid in autism spectrum disorders and to investigate the mechanisms involved. Studies have pointed out a potential beneficial effect of prenatal folic acid maternal supplementation (600 µg) on the risk of autism spectrum disorder onset, but opposite results have been reported as well. Folic acid and/or folinic acid supplementation in autism spectrum disorder diagnosed children has led to improvements, both in some neurologic and behavioral symptoms and in the concentration of one-carbon metabolites. Several authors report an increased frequency of serum auto-antibodies against folate receptor alpha (FRAA) in autism spectrum disorder children. Furthermore, methylene tetrahydrofolate reductase (MTHFR) polymorphisms showed a significant influence on ASD risk. More clinical trials, with a clear study design, with larger sample sizes and longer observation periods are necessary to be carried out to better evaluate the potential protective role of folic acid in autism spectrum disorder risk.


2021 ◽  
pp. 135910452110079
Author(s):  
Lucy Watson ◽  
Paul Hanna ◽  
Christina J Jones

Difficulties associated with Autism Spectrum Disorders can cause considerable impact on personal, familial, social, educational and occupational functioning. Living with a child who has an Autism Spectrum Disorder can therefore pose a challenge to family members, including typically developing siblings. However, it is only in recent years that the experience of typically developing siblings has become a focal point. A systematic review using keywords across six databases was undertaken to summarise qualitative studies that focused on the experience of being a sibling of a child with an Autism Spectrum Disorder. Fifteen studies met inclusion criteria and a thematic synthesis was completed. The synthesis found that having a sibling who has an Autism Spectrum Disorder can impact typically developing sibling’s self-identity and personal development in a number of ways. Similarly, interactions with the sibling who has Autism Spectrum Disorders and with other individuals can evoke a myriad of experiences that can both benefit and challenge typically developing siblings. The ability of typically developing siblings to cope with adverse experiences needs to remain a focus. This synthesis concludes that further research is needed to identify which methods are the most effective in supporting typically developing siblings of children with Autism Spectrum Disorders.


Autism ◽  
2020 ◽  
Vol 24 (4) ◽  
pp. 899-918 ◽  
Author(s):  
Madelaine Ressel ◽  
Brittni Thompson ◽  
Marie-Hélène Poulin ◽  
Claude L Normand ◽  
Marissa H Fisher ◽  
...  

A systematic review of autism spectrum disorder and substance use and abuse was conducted based on the Preferred Reporting Items for Systematic Review and Meta-Analysis protocol guidelines (an internationally recognized standardized methodological framework for conducting systematic review). The objectives of the review were to update and extend findings reported by Arnevik and Helverschou’s review of the autism spectrum disorder and substance use literature by (1) evaluating study quality via the Mixed-Methods Appraisal Tool; (2) examining autism spectrum disorder and substance abuse diagnostic measures; (3) reporting on the prevalence of co-occurring autism spectrum disorder and substance abuse; and (4) identifying risk, protective, and positive treatment factors. Twenty-six studies on substance use and abuse in autism spectrum disorder were identified through a search of MEDLINE, PsycINFO and Google Scholar. Average study quality score was 75.4%. Prevalence rates of substance abuse among samples with autism spectrum disorder ranged from 1.3% to 36%, but due to variability in sample characteristics and diagnostic measures, a general prevalence rate could not be established. Risk and protective factors, recognized in the general population, such as familial substance abuse and comorbid externalizing disorders, and factors, which may be more likely to occur in individuals with autism spectrum disorder compared to the general population, such as few social resources (i.e. sense of social belonging, breadth of social support networks, and level of social capital) and low sensation-seeking, were identified. One intervention study was identified; however, methodological limitations preclude any conclusion regarding positive treatment factors at this time. More research, using standardized measures and comparable samples, is needed to understand risk and protective factors and to determine the prevalence of co-occurring substance abuse and autism spectrum disorder. Lay Abstract Symptoms characteristic of autism spectrum disorder were initially believed to protect individuals with autism spectrum disorder from developing substance abuse. However, recent studies suggest that up to 36% of individuals with autism spectrum disorder may have a co-occurring issue with substance abuse. In addition, substance abuse may worsen the difficulties with daily functioning some individuals with autism spectrum disorder experience. It is important to understand occurrence rates, and risk, protective and positive treatment factors of co-occurring autism spectrum disorder and substance abuse in order to promote the best possible support for this special population. This review aimed to find and synthesize evidence regarding risk, protective and treatment factors, and determine a general prevalence rate of co-occurring autism spectrum disorder and substance abuse from all studies on substance use and abuse in individuals with autism spectrum disorder. The review also aimed to assess study quality and identify a diagnostic measure for substance abuse in individuals with autism spectrum disorder. Twenty-six studies on substance use and abuse in autism spectrum disorder were included in the review. The rates of substance abuse among those with autism spectrum disorder identified by included studies ranged from 1.3% to 36%, but due to large differences in study methods, a general prevalence rate could not be determined. Risk and protective factors, recognized in the general population, such as familial substance abuse and co-occurring mental health issues, and factors which may be more likely to occur in individuals with autism spectrum disorder, such as limited social resources and low sensation-seeking, were identified. No diagnostic measures specific to individuals with autism spectrum disorder and substance abuse were identified. This review identified only one exploratory study on an adapted intervention for co-occurring autism spectrum disorder and substance abuse. However, there were many methodological challenges in this study that limit the conclusions that can be drawn from the data. More research, using consistent methods, is needed to understand risk and protective factors and to determine the prevalence of substance abuse among individuals with autism spectrum disorder. The potential for co-occurring autism spectrum disorder and substance abuse should be considered by professional working in both autism spectrum disorder and substance abuse services, as finding suggests substance abuse is possible among individuals with autism spectrum disorder and may occur more frequently than previously believed. In addition, autism spectrum disorder and substance abuse service providers should be sensitive to specific risk and protective factors identified by the review that may impact substance abuse course and outcomes.


2021 ◽  
Vol 17 (3) ◽  
Author(s):  
Carlton J. Fong ◽  
Joshua Taylor ◽  
Aynura Berdyyeva ◽  
Amanda M. McClelland ◽  
Kathleen M. Murphy ◽  
...  

2014 ◽  
Vol 2 (2) ◽  
pp. 141-154 ◽  
Author(s):  
Sinéad Lydon ◽  
Olive Healy ◽  
Orla O’Callaghan ◽  
Teresa Mulhern ◽  
Jennifer Holloway

2016 ◽  
Vol 19 (2) ◽  
pp. 17-22 ◽  
Author(s):  
H Onay ◽  
D Kacamak ◽  
AN Kavasoglu ◽  
B Akgun ◽  
M Yalcinli ◽  
...  

AbstractThe aim of this study was to identify the sequence mutations in the Neurexin 1 (NRXN1) gene that has been considered as one of the strong candidate genes. A total of 30 children and adolescents (aged 3-18) with non syndromic autism were enrolled this study. Sequencing of the coding exons and the exon-intron boundaries of the NRXN1 gene was performed. Two known mutations were described in two different cases. Heterozygous S14L was determined in one patient and heterozygous L748I was determined in another patient. The S14L and L748I mutations have been described in the patients with autism before. Both of these mutations were inherited from their father. In this study, two of 30 (6.7%) autism spectrum disorder (ASD) patients carrying NRXN1 gene mutations were detected. It indicates that variants in the NRXN1 gene might confer a risk of developing nonsyndromic ASD. However, due to the reduced penetrance in the gene, the causal role of the NRXN1 gene mutations must be evaluated carefully in all cases.


2018 ◽  
Vol 21 (4) ◽  
pp. 146-154 ◽  
Author(s):  
Amparo Díaz-Román ◽  
Junhua Zhang ◽  
Richard Delorme ◽  
Anita Beggiato ◽  
Samuele Cortese

BackgroundSleep problems are common and impairing in individuals with autism spectrum disorders (ASD). Evidence synthesis including both subjective (ie, measured with questionnaires) and objective (ie, quantified with neurophysiological tools) sleep alterations in youth with ASD is currently lacking.ObjectiveWe conducted a systematic review and meta-analysis of subjective and objective studies sleep studies in youth with ASD.MethodsWe searched the following electronic databases with no language, date or type of document restriction up to 23 May 2018: PubMed, PsycInfo, Embase+Embase Classic, Ovid Medline and Web of Knowledge. Random-effects models were used. Heterogeneity was assessed with Cochran’s Q and I2 statistics. Publication (small studies) bias was assessed with final plots and the Egger’s test. Study quality was evaluated with the Newcastle Ottawa Scale. Analyses were conducted using Review Manager and Comprehensive Meta-Analysis.FindingsFrom a pool of 3359 non-duplicate potentially relevant references, 47 datasets were included in the meta-analyses. Subjective and objective sleep outcome measures were extracted from 37 and 15 studies, respectively. Only five studies were based on comorbidity free, medication-naïve participants. Compared with typically developing controls, youth with ASD significantly differed in 10/14 subjective parameters and in 7/14 objective sleep parameters. The average quality score in the Newcastle-Ottawa Scale was 5.9/9.Discussion and clinical implicationsA number of subjective and, to a less extent, objective sleep alterations might characterise youth with ASD, but future studies should assess the impact of pharmacological treatment and psychiatric comorbidities.


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