Pharmacogenomic Studies in Intellectual Disabilities and Autism Spectrum Disorder: A Systematic Review: Études Pharmacogénomiques en Déficiences Intellectuelles et Trouble du Spectre de L’autisme: Une Revue Systématique

2020 ◽  
pp. 070674372097195
Author(s):  
Kazunari Yoshida ◽  
Emiko Koyama ◽  
Clement C. Zai ◽  
Joseph H. Beitchman ◽  
James L. Kennedy ◽  
...  

Background: Individuals with intellectual disability (ID) and autism spectrum disorder (ASD) often receive psychotropic medications such as antipsychotics and antidepressants to treat aberrant behaviors and mood symptoms, frequently resulting in polypharmacy and drug-related adverse effects. Pharmacogenomic (PGx) studies with ASD and/or ID (ASD/ID) have been scarce despite the promise of optimizing treatment outcomes. We reviewed the literature on PGx studies with antipsychotics and antidepressants (e.g., treatment response and adverse effects) in ASD/ID. Methods: We performed a systematic review using MEDLINE, Embase, and PsycINFO, including peer-reviewed original articles in English referring to PGx in the treatment of ASD/ID in any age groups (e.g., treatment response and adverse effects). Results: A total of 28 PGx studies using mostly candidate gene approaches were identified across age groups. Notably, only 3 studies included adults with ASD/ID while the other 25 studies focused specifically on children/adolescents with ASD/ID. Twelve studies primarily investigated treatment response, of which 5 and 6 studies included patients treated with antipsychotics and antidepressants, respectively. Most interesting results for response were reported for 2 sets of candidate gene studies, namely: (1) The DRD3 Ser9Gly (rs6280) polymorphism was examined in patients treated with risperidone in 3 studies, 2 of which reported an association with risperidone treatment response and (2) the SLC6A4 5-HTTLPR polymorphism and treatment response to antidepressants which was investigated in 4 studies, 3 of which reported significant associations. In regard to side effects, 9 of 15 studies focused on hyperprolactinemia in patients treated with risperidone. Among them, 7 and 5 studies examined the impact of CYP2D6 and DRD2 Taq1A polymorphisms, respectively, yielding mostly negative study findings. Conclusions: There is limited data available on PGx in individuals with ASD/ID and in particular in adults. Given the potential for PGx testing in improving treatment outcomes, additional PGx studies for psychotropic treatment in ASD/ID across age groups are warranted.

Author(s):  
Mizuho Takayanagi ◽  
Yoko Kawasaki ◽  
Mieko Shinomiya ◽  
Hoshino Hiroshi ◽  
Satoshi Okada ◽  
...  

AbstractThis study was a systematic review of research using the Wechsler Intelligence Scale for Children (WISC) with Autism Spectrum Disorder (ASD) to examine cognitive characteristics of children with ASD beyond the impact of revisions based on WISC and diagnostic criteria changes. The classic “islets of ability” was found in individuals with full-scale IQs < 100. The “right-descending profiles” were observed among high IQ score individuals. High levels on the Block Design and low Coding levels were consistently found regardless of the variation in intellectual functioning or diagnosis. This review identified patterns of cognitive characteristics in ASD individuals using empirical data that researchers may have previously been aware of, based on their experiences, owing to the increased prevalence of ASD.


Author(s):  
Catalina Sau Man Ng ◽  
Yuan Fang ◽  
Zixin Wang ◽  
Mengge Zhang

The sizable prevalence of autism spectrum disorder (ASD) in China has recently emerged as an urgent public health issue, however studies investigating parenting stress in Chinese parents of children with ASD lack clarity in identifying the potential factors of stress. The aim of this systematic review was to identify and categorize the potential factors of stress based on findings in the literature. An extensive search of articles in online databases including PubMed, Web of Science, and EBSCOhost (ERIC, MEDLINE and PsycINFO) was conducted, as a result of which 24 eligible articles published from 2007 to 2019 were identified. Four key categories of potential factors of parental stress – cultural factors, parents’ psychopathological symptoms, problem behaviors in ASD children, and caregiver burden were identified. The impact of these potential factors on parental coping strategies and on the quality of life in affected families were also discussed.


2018 ◽  
Vol 49 (4) ◽  
pp. 559-572 ◽  
Author(s):  
Matthew J Hollocks ◽  
Jian Wei Lerh ◽  
Iliana Magiati ◽  
Richard Meiser-Stedman ◽  
Traolach S Brugha

AbstractAdults with autism spectrum disorder (ASD) are thought to be at disproportionate risk of developing mental health comorbidities, with anxiety and depression being considered most prominent amongst these. Yet, no systematic review has been carried out to date to examine rates of both anxiety and depression focusing specifically on adults with ASD. This systematic review and meta-analysis examined the rates of anxiety and depression in adults with ASD and the impact of factors such as assessment methods and presence of comorbid intellectual disability (ID) diagnosis on estimated prevalence rates. Electronic database searches for studies published between January 2000 and September 2017 identified a total of 35 studies, including 30 studies measuring anxiety (n= 26 070; mean age = 30.9,s.d.= 6.2 years) and 29 studies measuring depression (n= 26 117; mean age = 31.1,s.d.= 6.8 years). The pooled estimation of current and lifetime prevalence for adults with ASD were 27% and 42% for any anxiety disorder, and 23% and 37% for depressive disorder. Further analyses revealed that the use of questionnaire measures and the presence of ID may significantly influence estimates of prevalence. The current literature suffers from a high degree of heterogeneity in study method and an overreliance on clinical samples. These results highlight the importance of community-based studies and the identification and inclusion of well-characterized samples to reduce heterogeneity and bias in estimates of prevalence for comorbidity in adults with ASD and other populations with complex psychiatric presentations.


Autism ◽  
2016 ◽  
Vol 21 (8) ◽  
pp. 929-941 ◽  
Author(s):  
Darren Hedley ◽  
Mirko Uljarević ◽  
Lauren Cameron ◽  
Santoshi Halder ◽  
Amanda Richdale ◽  
...  

Individuals with autism spectrum disorder face significant challenges entering the workforce; yet research in this area is limited and the issues are poorly understood. In this systematic review, empirical peer-reviewed studies on employment programmes, interventions and employment-related outcomes in individuals with autism spectrum disorder over 18 years with and without intellectual disability were identified and evaluated. The review was prefaced by a summary of previous systematic reviews in the area. Web of Science, Medline, PsychINFO, ERIC and Scopus databases were systematically searched through to October 2015. From 32,829 records identified in the initial search, 10 review and 50 empirical articles, comprising N = 58,134 individuals with autism spectrum disorder, were included in the review. Selected articles were organised into the following themes: employment experiences, employment as a primary outcome, development of workplace skills, non-employment-related outcomes, assessment instruments, employer-focused and economic impact. Empirical studies were limited by poor participant characterisation, small sample size and/or a lack of randomisation and use of appropriate controls. Poor conceptualisation and measurement of outcomes significantly limited study quality and interpretation. Future research will require a multidisciplinary and multifaceted approach to explore employment outcomes on the individual, the family system, co-workers and the employer, along with the impact of individual differences on outcome.


2021 ◽  
Author(s):  
Agnes S. K. Wong ◽  
Samantha Burns ◽  
Earl Woodruff

Abstract Background: Stress is not experienced the same by everyone. Some individuals, such as individuals with Autism Spectrum Disorder (ASD), are at risk of heightened sensitivity to stress responses. ASD is a neurodevelopmental disorder commonly characterized by deficits in social communication and social interaction. Among different stressor stimuli, social stressors particularly worth our attention due to the social and communication challenges inherent to ASD. This study aims to systematically evaluate different social stressor stimuli in eliciting physiological reactivity in ASD, focusing on the children and adolescent population. Methods: We designed a study protocol for this study and submitted it to PROSPERO for systematic review registration. Any studies with children and adolescents with ASD between the ages of 0-18 in clinical and community settings will be included. All types of social stressor interventions will be included. The intended outcomes will not be restrictive. The outcome of interest will include studies with physiological activity of the participants being measured, e.g., measures related to autonomic functioning, electrodermal functioning, and cortisol level. The primary literature sources will be across four electronic databases: Medline, Embase, PsycInfo, and CINAHL. The second source of literature will be across grey literature, including ProQuest Dissertations & Theses Global and across clinical trial registries. Hand searching of references will be performed on the reference lists of all included studies. Two volunteers pursuing postgraduate-level studies will independently search and screen potential studies for eligibility. Finally, all references considered by hand-searching will be reviewed by two researchers. The methodological quality of the research will be assessed by adopting the quality assessment used by a previous study. The assessment consists of four primary categories: descriptive validity, internal validity, external validity, and statistical conclusion validity. Discussion: Considering the inconsistent methodologies and findings in previous studies, a systematic review in this area is required. We are not aware of another systematic review discussing this specific issue. The findings will have important implications for clinical practice and research studies. We anticipate that the results will be of interest to multiple audiences, including the individuals with ASD, their families and caregivers, healthcare professionals, educators, and researchers. Systematic Review Registration: PROSPERO CRD42021244039


2021 ◽  
Author(s):  
Julie Gardner-Hoag ◽  
Marlena Novack ◽  
Chelsea Parlett-Pelleriti ◽  
Elizabeth Stevens ◽  
Dennis Dixon ◽  
...  

BACKGROUND Challenging behaviors are prevalent among individuals with autism spectrum disorder (ASD); however, research exploring the impact of challenging behaviors on treatment response is lacking. OBJECTIVE The purpose of the current study was to identify subtypes of ASD based on engagement in different challenging behaviors and evaluate differences in treatment response between subgroups. METHODS Retrospective data on challenging behaviors and treatment progress for 854 children with ASD were analyzed. First, participants were clustered based on eight observed challenging behaviors using k-means. Next, a multiple linear regression analysis was performed to find significant interactions between skill mastery and treatment hours, cluster assignment, and gender. RESULTS Seven diverse clusters were identified, which demonstrated a single dominant challenging behavior. For some clusters, significant differences in treatment response were found. Specifically, a cluster characterized by stereotypy was found to have significantly higher levels of skill mastery than clusters characterized by self-injurious behavior and aggression. CONCLUSIONS These findings have implications on the treatment of individuals with ASD. First, self-injurious behavior and aggression were prevalent among participants with the poorest treatment response, thus interventions targeting these challenging behaviors may be worth prioritizing. Furthermore, the use of unsupervised machine learning models to identify subtypes of ASD shows promise.


BJPsych Open ◽  
2021 ◽  
Vol 7 (S1) ◽  
pp. S279-S279
Author(s):  
Rosalind Oliphant ◽  
Eleanor Smith ◽  
Victoria Grahame

AimsThe aims of this systematic review are to summarise data on the prevalence of suicidal behaviours and self-harm in under 18s with Autism Spectrum Disorder (ASD) and consider the impact of Intellectual Disability (ID). It was hypothesised that the prevalence of these behaviours may be higher in under 18s with ASD than in the general population.BackgroundIn the general population, rates of self-harm and suicide in under 18s are of increasing concern. Whilst there is an emerging evidence base considering suicidality in autistic adults, less in known about the experience of under 18s. There has been very little research focused on how self-harm seen within the general population presents in the context of ASD and whether it continues to be a predictor of future suicidal behaviour. This may be partly due to self-harm being considered alongside Self-Injurious Behaviours (SIB), which have long been recognised as part of the clinical presentation of ASD and may have other functions (e.g. fulfilling sensory stimulation needs).MethodA systematic literature search was conducted in line with PRISMA guidelines. For this review, all papers that included data on prevalence of self-harm and/or suicidal behaviours in under 18s with ASD were included. Studies that only reported on the prevalence of the broader entity of SIB (characterised as stereotypic or habitual) were excluded.Result338 papers were initially identified and 9 met eligibility criteria. There was considerable variation in how different aspects of self-harm and suicidal behaviours were addressed between groups and also between population samples, making it difficult to generalise the findings. The prevalence of self-harming and suicidal behaviours ranged from 7% to 73%, indicating that this is a clinically significant problem for this patient group. The only study that considered the impact of co-existing ID did not identify significant differences between groups (ID vs no ID).ConclusionThere was variation in the reported prevalence rates but results suggested that rates of both self-harm and suicidal behaviour may be elevated in under 18s with ASD compared to the general population. This is in keeping with literature relating to autistic adults but in contrast to conclusions of a previous systematic review. This review highlights the need for further research to explore the experience of self-harm and suicidal behaviour in autistic children and young people.


2017 ◽  
Vol 39 (2) ◽  
pp. 106-124 ◽  
Author(s):  
Emily M. Lund ◽  
Theresa L. Kohlmeier ◽  
Lillian K. Durán

The prevalence of both bilingual children and children with autism spectrum disorder (ASD) is growing rapidly, and early childhood educators may be increasingly likely to encounter bilingual children with ASD in their classrooms. Because ASD significantly affects communication, many parents and professionals may have questions or concerns about the impact of bilingualism on language development in children with ASD. The present article presents a systematic review of the literature comparing monolingual to bilingual development in children with ASD. Seven articles were included, covering a wide variety of languages and involving predominantly young, simultaneously bilingual children with ASD. Results generally showed small, varied differences in both receptive and expressive language outcomes for bilingual and monolingual children with ASD, thus providing tentative support for the idea that bilingualism does not have a consistent or large negative effect on language development in children with ASD. Implications for research and practice are discussed.


Sign in / Sign up

Export Citation Format

Share Document