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Neurologic Clinics Nov 2022Autism spectrum disorder (ASD), was first described in 1943 as a disorder consisting of a triad of qualitative impairments of social interaction, communication and... (Review)
Review
Autism spectrum disorder (ASD), was first described in 1943 as a disorder consisting of a triad of qualitative impairments of social interaction, communication and restricted repetitive patterns of behavior, interests, and activities. The relationship between ASD and epilepsy is well documented. Patients with ASD have an increased risk of epilepsy, while those with epilepsy have a higher risk of ASD, as compared with the general population. Diagnosing epilepsy in those with ASD can be challenging. For example, stereotyped behaviors could be mistaken as ASD stereotypies, when in fact, they may be due to seizures. Fortunately, in recent years, we have gained a better understanding of the best antiseizure medications (ASMs) to use in this vulnerable population. However, more studies are needed to understand how best to screen for ASD in epilepsy, what the various ASD phenotypes are in people with epilepsy, especially those due to de novo genes/mutations, as well as factors influencing the fluctuating nature of ASD symptoms (eg, seizure type, frequency, syndromes, ASMs)..
Topics: Humans; Autism Spectrum Disorder; Epilepsy; Seizures; Phenotype
PubMed: 36270694
DOI: 10.1016/j.ncl.2022.03.011 -
The American Journal of Psychiatry Jan 2021Recent progress in the identification of genes and genomic regions contributing to autism spectrum disorder (ASD) has had a broad impact on our understanding of the... (Review)
Review
Recent progress in the identification of genes and genomic regions contributing to autism spectrum disorder (ASD) has had a broad impact on our understanding of the nature of genetic risk for a range of psychiatric disorders, on our understanding of ASD biology, and on defining the key challenges now facing the field in efforts to translate gene discovery into an actionable understanding of pathology. While these advances have not yet had a transformative impact on clinical practice, there is nonetheless cause for real optimism: reliable lists of risk genes are large and growing rapidly; the identified encoded proteins have already begun to point to a relatively small number of areas of biology, where parallel advances in neuroscience and functional genomics are yielding profound insights; there is strong evidence pointing to mid-fetal prefrontal cortical development as one nexus of vulnerability for some of the largest-effect ASD risk genes; and there are multiple plausible paths forward toward rational therapeutics development that, while admittedly challenging, constitute fundamental departures from what was possible prior to the era of successful gene discovery.
Topics: Autism Spectrum Disorder; Genes; Genetic Predisposition to Disease; Humans
PubMed: 33384012
DOI: 10.1176/appi.ajp.2020.20111608 -
Italian Journal of Pediatrics Jul 2022Autism spectrum disorder (ASD) is one of the serious developmental disorders that is usually diagnosed below the age of three years. Although the severity of the... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Autism spectrum disorder (ASD) is one of the serious developmental disorders that is usually diagnosed below the age of three years. Although the severity of the disease's symptoms varies from patient to patient, the ability to communicate with others is affected in all forms of ASD. This study aimed to determine the prevalence of ASD in high-risk groups by continent.
METHODS
The present study was conducted by systematic review and meta-analysis from 2008 to July 2021. Databases such as Science Direct, PubMed, Scopus, SID, Magiran, Web of Science (WoS), and Google Scholar from 2008 to July 2021 were searched to find related studies. Data were analysed using Comprehensive Meta-Analysis software (Version 2).
RESULTS
A total of 74 studies with 30,212,757 participants were included in this study. The prevalence of ASD in the world was 0.6% (95% confidence interval: 0.4-1%). Subgroup analyses indicated that the prevalence of ASD in Asia, America, Europe, Africa and Australia was 0.4% (95% CI: 0.1-1), 1% (95% CI: 0.8-1.1), 0.5% (95% CI: 0.2-1), 1% (95% CI: 0.3-3.1), 1.7% (95% CI: 0.5-6.1) respectively.
CONCLUSION
ASD imposes a heavy health burden on communities around the world. Early detection of ASD can reduce the incidence of developmental disorders and improve patients' communication skills. Therefore, health policymakers need to be aware of the prevalence and increasing trend of ASD to implement appropriate planning and interventions to reduce its consequences.
Topics: Autism Spectrum Disorder; Child, Preschool; Europe; Humans; Prevalence
PubMed: 35804408
DOI: 10.1186/s13052-022-01310-w -
Psychiatry Research May 2023Transidentity and autism frequently co-occur. Previous reviews have focused mainly on frequencies. Here, we conducted a systematic review to condense all the studies and... (Review)
Review
Transidentity and autism frequently co-occur. Previous reviews have focused mainly on frequencies. Here, we conducted a systematic review to condense all the studies and themes on this co-occurrence and to offer a global view. We followed the PRISMA method and selected 77 articles (including 59 clinical studies) in April 2022. We found 5 main themes (sex ratio, theories, sexual orientation, clinical and social consequences, and care implications) in addition to frequencies. Many theories have been proposed to explain the co-occurrence. One posits that social difficulties related to autism would lead to less identification with gender norms and less pressure to conform to these norms, allowing for greater gender diversity in people with autism. Given their difficulties with social interactions and communication, the announcement of one's transidentity to one's social group is often discredited, increasing the risk of suffering and delayed care. Many reports reaffirm the importance of providing specialised care for transgender people with autism. Autism is not a contraindication for gender-affirming treatment. However, some cognitive specificities can affect the planning of care, and transgender people with autism are at high risk of discrimination and harassment. We conclude that there is a need to raise awareness about gender and autism.
Topics: Humans; Male; Female; Autism Spectrum Disorder; Gender Dysphoria; Gender Identity; Transgender Persons; Sexual Behavior
PubMed: 36996732
DOI: 10.1016/j.psychres.2023.115176 -
Indian Journal of Pediatrics Apr 2023Autism is a spectrum disorder marked by considerable heterogeneity and characterized by impairments in the social communication domain along with the presence of... (Review)
Review
Autism is a spectrum disorder marked by considerable heterogeneity and characterized by impairments in the social communication domain along with the presence of restricted and repetitive behaviors or interests. Comprehensive autism evaluation generally consists of assessments by a multidisciplinary team. Having multiple specialists in the evaluation team aids in diagnosis and in chalking out a comprehensive management plan. Diagnosis is generally based on detailed developmental history, clinical judgment, and the use of standardized diagnostic instruments. Differential diagnosis is complicated as many of the mental health and neurodevelopmental conditions that routinely coexist with autism also have some symptoms that overlap with autism. Several barriers are linked to delay in diagnosis including lack of comfort in diagnosing autism by primary care providers, delayed referrals, the inability of parents to raise critical developmental concerns, confusion of autism with other conditions, and health system that is not responsive to the needs of the underserved communities. The etiology of autism spectrum disorder (ASD) is complex and still not completely understood; it involves genetics, neurobiology, and environmental exposures, leading to a diverse presentation of behaviors and symptoms. There is an imperative need to start therapeutic interventions as soon as a diagnosis of autism is suspected rather than wait for a definitive diagnosis. Early diagnosis is vital as timely intervention can lead to better outcomes for children and their families.
Topics: Early Diagnosis; Autism Spectrum Disorder; Pediatricians; Autistic Disorder; Mass Screening; Humans; Child, Preschool
PubMed: 36255651
DOI: 10.1007/s12098-022-04363-1 -
Journal of Autism and Developmental... Jun 2022For over 50 years, intervention methods informed by the principles of applied behavior analysis (ABA) have been empirically researched and clinically implemented for...
For over 50 years, intervention methods informed by the principles of applied behavior analysis (ABA) have been empirically researched and clinically implemented for autistics/individuals diagnosed with autism spectrum disorder (ASD). Despite the plethora of evidence for the effectiveness of ABA-based interventions, some autism rights and neurodiversity activists have expressed concerns with ABA-based interventions. Concerns have included discontent with historical events and possible harm from the procedures and goals targeted. The purpose of this manuscript is to examine some expressed concerns about ABA-based intervention and suggest productive ways of moving forward to provide the best outcomes for autistics/individuals diagnosed with ASD. The authors represent stakeholders from multiple sectors including board certified behavior analysts, licensed psychologists, parents, and autistics/individuals diagnosed with ASD.
Topics: Applied Behavior Analysis; Autism Spectrum Disorder; Autistic Disorder; Behavior Therapy; Humans; Parents
PubMed: 34132968
DOI: 10.1007/s10803-021-05137-y -
Journal of Magnetic Resonance Imaging :... Jun 2022Autism spectrum disorder (ASD) is neuropsychiatric continuum of disorders characterized by persistent deficits in social communication and restricted repetitive patterns... (Review)
Review
Autism spectrum disorder (ASD) is neuropsychiatric continuum of disorders characterized by persistent deficits in social communication and restricted repetitive patterns of behavior which impede optimal functioning. Early detection and intervention in ASD children can mitigate the deficits in social interaction and result in a better outcome. Various non-invasive imaging methods and molecular techniques have been developed for the early identification of ASD characteristics. There is no general consensus on specific neuroimaging features of autism; however, quantitative magnetic resonance techniques have provided valuable structural and functional information in understanding the neuropathophysiology of ASD and how the autistic brain changes during childhood, adolescence, and adulthood. In this review of decades of ASD neuroimaging research, we identify the structural, functional, and molecular imaging clues that most accurately point to the diagnosis of ASD vs. typically developing children. These studies highlight the 1) exaggerated synaptic pruning, 2) anomalous gyrification, 3) interhemispheric under- and overconnectivity, and 4) excitatory glutamate and inhibitory GABA imbalance theories of ASD. The application of these various theories to the analysis of a patient with ASD is mitigated often by superimposed comorbid neuropsychological disorders, evolving brain maturation processes, and pharmacologic and behavioral interventions that may affect the structure and function of the brain. LEVEL OF EVIDENCE: 4 TECHNICAL EFFICACY: Stage 3.
Topics: Adolescent; Adult; Autism Spectrum Disorder; Autistic Disorder; Brain; Child; Humans; Magnetic Resonance Imaging; Neuroimaging
PubMed: 34626442
DOI: 10.1002/jmri.27949 -
Psychiatria Polska Dec 2021Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders that can affect up to 2.6% of the population. Most of these people will have at... (Review)
Review
Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders that can affect up to 2.6% of the population. Most of these people will have at least one other psychiatric disorder, often diagnosed with a delay or not recognized at all. This study describes the epidemiology, diagnostic difficulties and potential treatment of patients with ASD and comorbid bipolar disorder (BD). The prevalence of bipolar disorder in ASD is estimated at 5-8%. The study with the most numerous group included 700,000 children out of which 9,062 fulfilled ASD criteria at 16 - BD was found to be 6 times more prevalent in this group compared to the control group. Many factors affect the diagnosis. Patients with ASD often have limited insight into understanding the complex emotional states and difficulty in expressing them due to their impairment. The symptoms of bipolar disorder are in their case unspecific and differ from those occurring in the general population, which makes it difficult to make proper diagnosis. Despite the lack of research on the group of patients with ASD, psychometric tools designed to evaluate the general population are used to examine patients. This work aims to show the current state of knowledge and highlight areas that require further investigation.
Topics: Autism Spectrum Disorder; Bipolar Disorder; Child; Comorbidity; Humans; Neurodevelopmental Disorders; Prevalence
PubMed: 35472236
DOI: 10.12740/PP/OnlineFirst/122350 -
Psychiatry and Clinical Neurosciences Aug 2019Autism spectrum disorder is a neurodevelopmental condition in which affected individuals have difficulties while interacting and communicating socially, and repetitive... (Review)
Review
Autism spectrum disorder is a neurodevelopmental condition in which affected individuals have difficulties while interacting and communicating socially, and repetitive behaviors. It has a multifactorial etiology. Various risk factors, including genetic and environmental influences, have been explored while trying to understand its causation. As older evidence was suggestive of a high heritability, a majority of research focused on finding the underlying genetic causes of autism. Due to these efforts, there have been advances in the knowledge of some of the genetic factors associated with autism. But a recent trend also shows an increasing interest in exploration of various potential environmental triggers. These efforts have brought us closer to understanding the elusive disorder more so than ever before. The current review discusses the recent trends in research exploring the etiopathogenesis of autism spectrum disorder.
Topics: Autism Spectrum Disorder; Biomedical Research; Gene-Environment Interaction; Humans
PubMed: 31077508
DOI: 10.1111/pcn.12860 -
Child and Adolescent Psychiatric... Apr 2020Obsessive-compulsive disorder is a relatively common disorder seen in autism spectrum disorder across the lifespan. Many obsessive-compulsive disorder symptoms can... (Review)
Review
Obsessive-compulsive disorder is a relatively common disorder seen in autism spectrum disorder across the lifespan. Many obsessive-compulsive disorder symptoms can present similarly to the core features of autism spectrum disorder and it is often difficult to differentiate between obsessive-compulsive disorder and stereotypic behaviors or restricted interests in autism spectrum disorder. However, there are differences between the 2 disorders. This article is a review of the current literature with the goal of helping the clinician to diagnose and treat obsessive-compulsive disorder in a patient with autism spectrum disorder.
Topics: Adolescent; Adult; Autism Spectrum Disorder; Child; Child, Preschool; Comorbidity; Humans; Obsessive-Compulsive Disorder; Young Adult
PubMed: 32169271
DOI: 10.1016/j.chc.2019.12.003