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Journal of Autism and Developmental... Dec 2021In the last 40 years, there has been a huge increase in autism genetics research and a rapidly growing number of discoveries. We now know autism is one of the most... (Review)
Review
In the last 40 years, there has been a huge increase in autism genetics research and a rapidly growing number of discoveries. We now know autism is one of the most highly heritable disorders with negligible shared environmental contributions. Recent discoveries also show that rare variants of large effect size as well as small effect common gene variants all contribute to autism risk. These discoveries challenge traditional diagnostic boundaries and highlight huge heterogeneity in autism. In this review, we consider some of the key findings that are shaping current understanding of autism and what these discoveries mean for clinicians.
Topics: Autism Spectrum Disorder; Autistic Disorder; Genetic Predisposition to Disease; Humans
PubMed: 32940822
DOI: 10.1007/s10803-020-04685-z -
Nature Reviews. Genetics Jun 2017Genetic studies have revealed the involvement of hundreds of gene variants in autism. Their risk effects are highly variable, and they are frequently related to other... (Review)
Review
Genetic studies have revealed the involvement of hundreds of gene variants in autism. Their risk effects are highly variable, and they are frequently related to other conditions besides autism. However, many different variants converge on common biological pathways. These findings indicate that aetiological heterogeneity, variable penetrance and genetic pleiotropy are pervasive characteristics of autism genetics. Although this advancing insight should improve clinical care, at present there is a substantial discrepancy between research knowledge and its clinical application. In this Review, we discuss the current challenges and opportunities for the translation of autism genetics knowledge into clinical practice.
Topics: Autistic Disorder; Genetic Predisposition to Disease; Genotyping Techniques; Humans
PubMed: 28260791
DOI: 10.1038/nrg.2017.4 -
Genes Mar 2023Autism spectrum disorder (ASD) consists of a group of heterogeneous genetic neurobehavioral disorders associated with developmental impairments in social communication... (Review)
Review
Autism spectrum disorder (ASD) consists of a group of heterogeneous genetic neurobehavioral disorders associated with developmental impairments in social communication skills and stereotypic, rigid or repetitive behaviors. We review common behavioral, psychiatric and genetic associations related to ASD. Autism affects about 2% of children with 4:1 male-to-female ratio and a heritability estimate between 70 and 90%. The etiology of ASD involves a complex interplay between inheritance and environmental factors influenced by epigenetics. Over 800 genes and dozens of genetic syndromes are associated with ASD. Novel gene-protein interactions with pathway and molecular function analyses have identified at least three functional pathways including chromatin modeling, Wnt, Notch and other signaling pathways and metabolic disturbances involving neuronal growth and dendritic spine profiles. An estimated 50% of individuals with ASD are diagnosed with chromosome deletions or duplications (e.g., 15q11.2, BP1-BP2, 16p11.2 and 15q13.3), identified syndromes (e.g., Williams, Phelan-McDermid and Shprintzen velocardiofacial) or single gene disorders. Behavioral and psychiatric conditions in autism impacted by genetics influence clinical evaluations, counseling, diagnoses, therapeutic interventions and treatment approaches. Pharmacogenetics testing is now possible to help guide the selection of psychotropic medications to treat challenging behaviors or co-occurring psychiatric conditions commonly seen in ASD. In this review of the autism spectrum disorder, behavioral, psychiatric and genetic observations and associations relevant to the evaluation and treatment of individuals with ASD are discussed.
Topics: Child; Humans; Male; Female; Autism Spectrum Disorder; Autistic Disorder; Syndrome; Chromosome Deletion; Epigenesis, Genetic
PubMed: 36980949
DOI: 10.3390/genes14030677 -
American Family Physician Dec 2016Autism spectrum disorder is characterized by difficulty with social communication and restricted, repetitive patterns of behavior, interest, or activities. The... (Review)
Review
Autism spectrum disorder is characterized by difficulty with social communication and restricted, repetitive patterns of behavior, interest, or activities. The Diagnostic and Statistical Manual of Mental Disorders, 5th ed., created an umbrella diagnosis that includes several previously separate conditions: autistic disorder, Asperger syndrome, childhood disintegrative disorder, and pervasive developmental disorder not otherwise specified. There is insufficient evidence to recommend screening for autism spectrum disorder in children 18 to 30 months of age in whom the disorder is not suspected; however, there is a growing body of evidence that early intensive behavioral intervention based on applied behavior analysis improves cognitive ability, language, and adaptive skills. Therefore, early identification of autism spectrum disorder is important, and experts recommend the use of a validated screening tool at 18- and 24-month well-child visits. Medications can be used as adjunctive treatment for maladaptive behaviors and comorbid psychiatric conditions, but there is no single medical therapy that is effective for all symptoms of autism spectrum disorder. Prognosis is heavily affected by the severity of diagnosis and the presence of intellectual disability. Children with optimal outcomes receive earlier, more intensive behavioral interventions and less pharmacologic treatment.
Topics: Antipsychotic Agents; Aripiprazole; Asperger Syndrome; Autism Spectrum Disorder; Autistic Disorder; Behavior Therapy; Child Development Disorders, Pervasive; Child, Preschool; Early Diagnosis; Early Medical Intervention; Humans; Infant; Primary Health Care; Referral and Consultation; Risperidone
PubMed: 28075089
DOI: No ID Found -
World Journal of Gastroenterology Jan 2016The hypothesis of an important role of gut microbiota in the maintenance of physiological state into the gastrointestinal (GI) system is supported by several studies... (Review)
Review
The hypothesis of an important role of gut microbiota in the maintenance of physiological state into the gastrointestinal (GI) system is supported by several studies that have shown a qualitative and quantitative alteration of the intestinal flora in a number of gastrointestinal and extra-gastrointestinal diseases. In the last few years, the importance of gut microbiota impairment in the etiopathogenesis of pathology such as autism, dementia and mood disorder, has been raised. The evidence of the inflammatory state alteration, highlighted in disorders such as schizophrenia, major depressive disorder and bipolar disorder, strongly recalls the microbiota alteration, highly suggesting an important role of the alteration of GI system also in neuropsychiatric disorders. Up to now, available evidences display that the impairment of gut microbiota plays a key role in the development of autism and mood disorders. The application of therapeutic modulators of gut microbiota to autism and mood disorders has been experienced only in experimental settings to date, with few but promising results. A deeper assessment of the role of gut microbiota in the development of autism spectrum disorder (ASD), as well as the advancement of the therapeutic armamentarium for the modulation of gut microbiota is warranted for a better management of ASD and mood disorders.
Topics: Animals; Anti-Bacterial Agents; Autism Spectrum Disorder; Autistic Disorder; Fecal Microbiota Transplantation; Gastrointestinal Microbiome; Humans; Mood Disorders; Probiotics
PubMed: 26755882
DOI: 10.3748/wjg.v22.i1.361 -
British Journal of Hospital Medicine... Dec 2021Recognition of autism and the associated co-occurring physical and mental health issues has increased over recent years. However, undergraduate and postgraduate...
Recognition of autism and the associated co-occurring physical and mental health issues has increased over recent years. However, undergraduate and postgraduate curricula take time to adapt and to impact on what is delivered in training so healthcare professionals, including doctors, report little training on these topics. Doctors need to know when someone might be autistic in order to respond to them appropriately. This article sets out the reasons why recognition of autism is important and the positive impacts of recognising and understanding autism on health outcomes, service delivery and patient experience. The negative consequences of not recognising autism or understanding the impact of autistic traits on the person are also explored. A companion article then covers how practice can be made more appropriate for autistic people to improve outcomes.
Topics: Autistic Disorder; Delivery of Health Care; Health Personnel; Humans
PubMed: 34983217
DOI: 10.12968/hmed.2021.0313 -
Medicina 2019Autism is a neurodevelopmental disorder characterized by commitment to social interaction and communication, associated with interests restricted and stereotyped...
Autism is a neurodevelopmental disorder characterized by commitment to social interaction and communication, associated with interests restricted and stereotyped behaviors with a high population prevalence, neurobiological bases and high heritability. Its etiology is heterogeneous, numerous genetic bases, environmental factors and epigenetic mechanisms have been recognized. Advances in molecular genetics, as well as epidemiological studies of large cohorts, have made it possible to identify specific medical entities, as well as genes and environmental factors partially or totally linked in their pathogenesis. This knowledge, according to the clinical characteristics, allows to guide the complementary studies, the therapeutic conducts, to infer a clinical prognosis and to propitiate the familiar genetic advice. In this work, the most prevalent clinical characteristics identified are described; the specific medical entities that are strongly related to autism are stated, as well as the recognized genes, the possible environmental factors and the epidemiological results that allow family counseling.
Topics: Autism Spectrum Disorder; Autistic Disorder; Environment; Epigenesis, Genetic; Genetic Counseling; Humans
PubMed: 30776274
DOI: No ID Found -
Journal of the American Academy of... Jan 2015The relationship between sex/gender differences and autism has attracted a variety of research ranging from clinical and neurobiological to etiological, stimulated by... (Review)
Review
OBJECTIVE
The relationship between sex/gender differences and autism has attracted a variety of research ranging from clinical and neurobiological to etiological, stimulated by the male bias in autism prevalence. Findings are complex and do not always relate to each other in a straightforward manner. Distinct but interlinked questions on the relationship between sex/gender differences and autism remain underaddressed. To better understand the implications from existing research and to help design future studies, we propose a 4-level conceptual framework to clarify the embedded themes.
METHOD
We searched PubMed for publications before September 2014 using search terms "'sex OR gender OR females' AND autism." A total of 1,906 articles were screened for relevance, along with publications identified via additional literature reviews, resulting in 329 articles that were reviewed.
RESULTS
Level 1, "Nosological and diagnostic challenges," concerns the question, "How should autism be defined and diagnosed in males and females?" Level 2, "Sex/gender-independent and sex/gender-dependent characteristics," addresses the question, "What are the similarities and differences between males and females with autism?" Level 3, "General models of etiology: liability and threshold," asks the question, "How is the liability for developing autism linked to sex/gender?" Level 4, "Specific etiological-developmental mechanisms," focuses on the question, "What etiological-developmental mechanisms of autism are implicated by sex/gender and/or sexual/gender differentiation?"
CONCLUSIONS
Using this conceptual framework, findings can be more clearly summarized, and the implications of the links between findings from different levels can become clearer. Based on this 4-level framework, we suggest future research directions, methodology, and specific topics in sex/gender differences and autism.
Topics: Autistic Disorder; Female; Humans; Male; Sex Characteristics
PubMed: 25524786
DOI: 10.1016/j.jaac.2014.10.003 -
Autism Research : Official Journal of... Jan 2019Sensory integration is one of the most highly utilized interventions in autism, however, a lack of consensus exists regarding its evidence base. An increasing number of...
Sensory integration is one of the most highly utilized interventions in autism, however, a lack of consensus exists regarding its evidence base. An increasing number of studies are investigating the effectiveness of this approach. This study used the Council for Exceptional Children (CEC) Standards for Evidence-based Practices in Special Education to evaluate the effectiveness research from 2006 to 2017 on Ayres Sensory Integration (ASI) intervention for children with autism. A systematic review was conducted in three stages. Stage 1 involved an extensive database search for relevant studies using search terms related to sensory integration and autism, interventions suggesting a sensory integration approach, and high-quality study designs. Searches yielded 19 studies that were evaluated in Stage 2. Six of these met inclusion criteria of being peer-reviewed, written in English, description of intervention this is consistent with ASI intervention, and comparison group design or single subject method employed. Prior to analysis using CEC standards, three articles were excluded because intervention details were not consistent with the core principles of ASI, or because of major methodological flaws. In Stage 3, the remaining three studies were rated using the CEC quality indicators and standards for an evidence-based practice. Two randomized controlled trials respectively met 100% and 85% of the CEC criteria items. One additional study met more than 50% of the criteria. Based on CEC criteria, ASI can be considered an evidence-based practice for children with autism ages 4-12 years old. Autism Research 2019, 12: 6-19. © 2018 The Authors. Autism Research published by International Society for Autism Research and Wiley Periodicals, Inc. LAY SUMMARY: Ayres Sensory Integration intervention is one of the most frequently requested and highly utilized interventions in autism. This intervention has specific requirements for therapist qualifications and the process of therapy. This systematic review of studies providing Ayres Sensory Integration therapy to children with autism indicates that it is an evidence-based practice according to the criteria of the Council for Exceptional Children.
Topics: Autistic Disorder; Child; Child, Preschool; Female; Humans; Occupational Therapy; Perception; Sensation; Sensation Disorders; Treatment Outcome
PubMed: 30548827
DOI: 10.1002/aur.2046 -
Autism : the International Journal of... Aug 2017Autobiographical descriptions and clinician observations suggest that some individuals with autism, particularly females, 'camouflage' their social communication...
Autobiographical descriptions and clinician observations suggest that some individuals with autism, particularly females, 'camouflage' their social communication difficulties, which may require considerable cognitive effort and lead to increased stress, anxiety and depression. Using data from 60 age- and IQ-matched men and women with autism (without intellectual disability), we operationalized camouflaging in adults with autism for the first time as the quantitative discrepancy between the person's 'external' behavioural presentation in social-interpersonal contexts (measured by the Autism Diagnostic Observation Schedule) and the person's 'internal' status (dispositional traits measured by the Autism Spectrum Quotient and social cognitive capability measured by the 'Reading the Mind in the Eyes' Test). We found that the operationalized camouflaging measure was not significantly correlated with age or IQ. On average, women with autism had higher camouflaging scores than men with autism (Cohen's d = 0.98), with substantial variability in both groups. Greater camouflaging was associated with more depressive symptoms in men and better signal-detection sensitivity in women with autism. The neuroanatomical association with camouflaging score was largely sex/gender-dependent and significant only in women: from reverse inference, the most correlated cognitive terms were about emotion and memory. The underlying constructs, measurement, mechanisms, consequences and heterogeneity of camouflaging in autism warrant further investigation.
Topics: Adolescent; Adult; Autistic Disorder; Depression; Female; Humans; Intelligence; Male; Middle Aged; Social Behavior; Young Adult
PubMed: 27899710
DOI: 10.1177/1362361316671012