scholarly journals Reevaluation of Serum Arylesterase Activity in Neurodevelopmental Disorders

Antioxidants ◽  
2021 ◽  
Vol 10 (2) ◽  
pp. 164
Author(s):  
Ignazio Stefano Piras ◽  
Stefano Gabriele ◽  
Laura Altieri ◽  
Federica Lombardi ◽  
Roberto Sacco ◽  
...  

Organophosphate compounds (OPs) interfere with neurodevelopment and are neurotoxic for humans and animals. They are first biotransformed to the more toxic oxon form, and then hydrolyzed to specific metabolites by the enzyme paraoxonase/arylesterase, encoded by the gene PON1 located on human chr. 7q21.3. In autism spectrum disorder (ASD) and in attention-deficit/hyperactivity disorder (ADHD), a correlation between OP exposure and disease onset has been reported. In this case-control study, we aimed to replicate our previous work showing reduced levels of serum PON1 arylesterase activity in Italian and Caucasian-American ASD samples, and to extend our analysis to other neurodevelopmental disorders, namely ADHD and developmental language disorder (DLD), also known as specific language impairment (SLI). The arylesterase activity, measured using standard spectrophotometric methods, is significantly reduced in the ADHD, and not in the ASD sample compared with the controls. Our previous results seemingly stem from spuriously high arylesterase levels in the former control sample. Finally, genotyping SNPs rs705379 and rs662 using TDI-FP, a significant effect of rs705379 alleles on the serum arylesterase activity is observed in all of the subgroups tested, regardless of diagnosis, as well as a lack of association between PON1 gene polymorphisms and ASD/ADHD susceptibility in the Italian population. In summary, the serum arylesterase activity is reduced in children and adolescents with ADHD, and this reduction is not due to the functional PON1 gene variants assessed in this study. Based on previous literature, it may more likely reflect enhanced oxidative stress than specific genetic underpinnings.

2020 ◽  
Vol 5 (1) ◽  
pp. 47-54
Author(s):  
Kimberly A. Murza ◽  
Barbara J. Ehren

Purpose The purpose of this article is to situate the recent language disorder label debate within a school's perspective. As described in two recent The ASHA Leader articles, there is international momentum to change specific language impairment to developmental language disorder . Proponents of this change cite increased public awareness and research funding as part of the rationale. However, it is unclear whether this label debate is worthwhile or even practical for the school-based speech-language pathologist (SLP). A discussion of the benefits and challenges to a shift in language disorder labels is provided. Conclusions Although there are important arguments for consistency in labeling childhood language disorder, the reality of a label change in U.S. schools is hard to imagine. School-based services are driven by eligibility through the Individuals with Disabilities Education Act, which has its own set of labels. There are myriad reasons why advocating for the developmental language disorder label may not be the best use of SLPs' time, perhaps the most important of which is that school SLPs have other urgent priorities.


2020 ◽  
Vol 5 (1) ◽  
pp. 6-11 ◽  
Author(s):  
Laurence B. Leonard

Purpose The current “specific language impairment” and “developmental language disorder” discussion might lead to important changes in how we refer to children with language disorders of unknown origin. The field has seen other changes in terminology. This article reviews many of these changes. Method A literature review of previous clinical labels was conducted, and possible reasons for the changes in labels were identified. Results References to children with significant yet unexplained deficits in language ability have been part of the scientific literature since, at least, the early 1800s. Terms have changed from those with a neurological emphasis to those that do not imply a cause for the language disorder. Diagnostic criteria have become more explicit but have become, at certain points, too narrow to represent the wider range of children with language disorders of unknown origin. Conclusions The field was not well served by the many changes in terminology that have transpired in the past. A new label at this point must be accompanied by strong efforts to recruit its adoption by clinical speech-language pathologists and the general public.


2021 ◽  
Vol 11 (5) ◽  
pp. 589
Author(s):  
Natasa Georgiou ◽  
George Spanoudis

Language and communication deficits characterize both autism spectrum disorder and developmental language disorder, and the possibility of there being a common profile of these is a matter of tireless debate in the research community. This experimental study addresses the relation of these two developmental conditions in the critical topic of language. Α total of 103 children (79 males, 24 females) participated in the present study. Specifically, the study’s sample consisted of 40 children with autism, 28 children with developmental language disorder, and 35 typically developing children between 6 and 12 years old. All children completed language and cognitive measures. The results showed that there is a subgroup inside the autism group of children who demonstrate language difficulties similar to children with developmental language disorder. Specifically, two different subgroups were derived from the autism group; those with language impairment and those without. Both autism and language-impaired groups scored lower than typically developing children on all language measures indicating a common pathology in language ability. The results of this study shed light on the relation between the two disorders, supporting the assumption of a subgroup with language impairment inside the autism spectrum disorder population. The common picture presented by the two developmental conditions highlights the need for further research in the field.


2018 ◽  
Vol 3 ◽  
pp. 239694151879964 ◽  
Author(s):  
Philippe Prévost ◽  
Laurice Tuller ◽  
Racha Zebib ◽  
Marie Anne Barthez ◽  
Joëlle Malvy ◽  
...  

Background and aims Impaired production of third person accusative pronominal clitics is a signature of language impairment in French-speaking children. It has been found to be a prominent and persistent difficulty in children and adolescents with specific language impairment. Previous studies have reported that many children with autism spectrum disorder also have low performance on these clitics. However, it remains unclear whether these difficulties in children with autism spectrum disorder are due to structural language impairment or to pragmatic deficits. This is because pragmatics skills, notoriously weak in children with autism spectrum disorder, are also needed for appropriate use of pronouns. Use of pronouns without clear referents and difficulty with discourse pronouns (first and second person), which require taking into account the point of view of one’s interlocutor (perspective shifting), have frequently been reported for autism spectrum disorder. Methods We elicited production of nominative, reflexive and accusative third and first person pronominal clitics in 19 verbal children with autism spectrum disorder (aged 6–12, high and low functioning, with structural language impairment, or with normal language) and 19 age-matched children with specific language impairment. If pragmatics is behind difficulties on these elements, performance on first-person clitics would be expected to be worse than performance on third person clitics, since it requires perspective shifting. Furthermore, worse performance for first person clitics was expected in the children with autism spectrum disorder compared to the children with specific language impairment, since weak pragmatics is an integral part of impairment in the former, but not in the latter. More generally, different error patterns would be expected in the two groups, if the source of difficulty with clitics is different (a pragmatic deficit vs. a structural language deficit). Results Similar patterns of relative difficulties were found in the autism spectrum disorder language impairment and specific language impairment groups, with third person accusative clitics being produced at lower rates than first-person pronouns and error patterns being essentially identical. First-person pronouns did not pose particular difficulties in the children with autism spectrum disorder (language impairment or normal language) with respect to third-person pronouns or to the children with specific language impairment. Performance was not related to nonverbal intelligence in the autism spectrum disorder group. Conclusions The elicitation task used in this study included explicit instruction, and focus on perspective shifting (both visual and verbal), allowing for potential pragmatic effects to be controlled. Moreover, the task elicited a variety of types of clitics in morphosyntactic contexts of varying complexity, providing ample opportunities for employment of perspective shifting, which may have also curtailed perseveration of third person over first person. These properties of the task allowed for the grammatical nature of children’s difficulties with third-person accusative clitics to emerge unambiguously. Implications Assessment of structural language abilities in children with autism spectrum disorder requires careful consideration of task demands. The influence of pragmatic abilities on structural language performance can be circumvented by making the pragmatic demands of the task explicit and salient. Filtering out this potential influence on structural language performance is fundamental to understanding language profiles in children with autism spectrum disorder and thus which children could benefit from which kinds of language intervention.


2020 ◽  
Vol 5 ◽  
pp. 239694152097150
Author(s):  
Magda Di Renzo ◽  
Federico Bianchi di Castelbianco ◽  
Elena Vanadia ◽  
Massimiliano Petrillo ◽  
Lidia Racinaro ◽  
...  

Background and aims The daily challenges of caring for a child with autism spectrum disorder affect many areas of everyday life and parental well-being, as well as parents’ ability to manage the needs of the family and the child concerned. A better understanding of parents’ perception of their child’s characteristics can allow better support for them and individualize intervention protocols in a more accurate way. The main objective of this study is the evaluation of the perception of stress by parents of children with autism compared to parents of children with specific language impairment. Methods The parents of 87 children aged between 2 and 6 years were included in this study, 34 children with a specific language impairment diagnosis and 53 children with an autism spectrum disorder diagnosis (ASD) or at risk of developing it. They were asked to complete a self-report on perceived stress and rating scales on adaptive/problematic behaviours, executive functions and sensory profile of the child. Results The results reveal that parents of ASD children, compared to the control group, showed significantly higher levels of stress, mainly due to the difficulty of managing unexpected events, the feeling of loss of control over one's life and the fear of not being able to cope with the adversities they were experiences. The most critical area, both for ASD and control group, concern the executive function related to emotional reactions. Conclusions Thus, we argue that the difficulties in self-control, sensory modulation and emotional regulation, represent an element of stress for parents of children with developmental disorders. Implications: Regarding the difficulties of children with ASD, supporting the ways in which caregivers adapt to the signals of children is an important strategy, which has now become a key element of treatments for autism mediated by parents.


CoDAS ◽  
2014 ◽  
Vol 26 (4) ◽  
pp. 270-275
Author(s):  
Ingrid Ya I Sun ◽  
Fernanda Dreux Miranda Fernandes

INTRODUCTION: The child's inclusion in his/her social-cultural context is very important to his/her adaptation and well-being. The family has a major role as a facilitator of this process. Therefore the difficulties of these families in communicating with children with communication disorders are an important issue to be assessed in order to support orientations to families.PURPOSE: The present study aimed to identify and compare communication difficulties perceived by parents of children with Down Syndrome (DS), Autism Spectrum Disorders (ASD) and Specific Language Impairment (SLI).METHODS: Information was gathered with the use of a questionnaire with 24 questions regarding the perception of parents about their child communication disorders and the difficulties they identify. The questions were divided into four domains: 1 - Parents' personal difficulties; 2 - Parents' impression about themselves regarding their child; 3 - Parents' impressions about other persons' reactions to their child and 4 - Parents' impression about their child. Sixty parents were the subjects of this study: 20 had children with DS, 20 with SLI and 20 with ASD. All children had ages between 6 and 12 years.RESULTS: It was possible to observe that there was significant difference between the parents of ASD children with those of DS and SLI on the second, third and fourth domains.CONCLUSION: The questionnaire is effective to the identification of the communication disorders of ASD children based on their parents' reports but not to other developmental disorders.


2017 ◽  
Vol 38 (5) ◽  
pp. 1095-1131 ◽  
Author(s):  
PHILIPPE PRÉVOST ◽  
LAURICE TULLER ◽  
MARIE ANNE BARTHEZ ◽  
JOËLLE MALVY ◽  
FRÉDÉRIQUE BONNET-BRILHAULT

ABSTRACTThe nature of structural language difficulties in children with autism spectrum disorder (ASD) was explored in a comparative study with specific language impairment (SLI) through investigation of the frequently reported ASD weakness in receptive skills relative to expressive skills. Twenty French-speaking children with ASD aged 6 to 12 were compared to age-matched children with SLI on production and comprehension of wh-questions. The two groups displayed similar effects of the complexity of the different wh-strategies. In the ASD group (as in the SLI group), these effects were not greater in comprehension compared to production; moreover, nonverbal ability (which varied from normal to impaired) was not related to language performance. Observed ASD-SLI differences are argued to largely be due to ASD pragmatic deficits, rather than to a qualitative difference in structural language skills.


2016 ◽  
Vol 59 (1) ◽  
pp. 143-154 ◽  
Author(s):  
Helen Tager-Flusberg

Purpose Identifying risk factors associated with neurodevelopmental disorders is an important line of research, as it will lead to earlier identification of children who could benefit from interventions that support optimal developmental outcomes. The primary goal of this review was to summarize research on risk factors associated with autism spectrum disorder (ASD). Method The review focused on studies of infants who have older siblings with ASD, with particular emphasis on risk factors associated with language impairment that affects the majority of children with ASD. Findings from this body of work were compared to the literature on specific language impairment. Results A wide range of risk factors has been found for ASD, including demographic (e.g., male, family history), behavioral (e.g., gesture, motor) and neural risk markers (e.g., atypical lateralization for speech and reduced functional connectivity). Environmental factors, such as caregiver interaction, have not been found to predict language outcomes. Many of the risk markers for ASD are also found in studies of risk for specific language impairment, including demographic, behavioral, and neural factors. Conclusions There are significant gaps in the literature and limitations in the current research that preclude direct cross-syndrome comparisons. Future research directions are outlined that could address these limitations.


Sign in / Sign up

Export Citation Format

Share Document