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Current Opinion in Psychiatry Mar 2020With increasing awareness of potential differences of autism presentation in nonmale versus male individuals, this review summarizes the rapidly evolving literature on... (Review)
Review
PURPOSE OF REVIEW
With increasing awareness of potential differences of autism presentation in nonmale versus male individuals, this review summarizes the rapidly evolving literature on sex and gender impacts on autism across nosology, behavioural presentation, developmental change and contextual recognition biases.
RECENT FINDINGS
Most studies have not differentiated sex versus gender impacts. Regarding behavioural presentation, measurement invariance across sex/gender was found in several standard measures. On this basis, diagnosed females overall showed lower restricted/repetitive behaviour/interests/activities (RRBI) than males, with small and variable effects depending on age, developmental level and kinds of RRBI. Differences insufficiently captured by standard measures may include autistic females displaying female-gender-typical narrow interests, higher social attention, linguistic abilities, motivation for friendship and more camouflaging than autistic males. Regarding developmental change, diagnosed young girls were more likely to have better cognitive development, less intense autistic symptoms and reduction of symptoms over time. Difficulties in adaptive functioning and social challenges, however, may emerge more for females in adolescence. Regarding diagnosis, general expectancy biases and gender-stereotypes may impede timely recognition of autism in females.
SUMMARY
Appreciating the multilevel sex and gender impacts on presentation, development, and diagnosis is key to sex-equitable and gender-equitable care for autistic individuals. A holistic approach to understanding the person in the contexts of sex and gender is essential for timely and accurate diagnosis and support.
Topics: Autistic Disorder; Behavioral Symptoms; Child; Child Development; Cognition; Female; Humans; Male; Personality Development; Prognosis; Psychopathology; Sex Factors; Social Behavior; Stereotyped Behavior
PubMed: 31815760
DOI: 10.1097/YCO.0000000000000575 -
Current Opinion in Psychiatry Nov 2023There is considerable overlap between the features of avoidant-restrictive food intake disorder (ARFID) and autism. The purpose of this scoping review is to provide an... (Review)
Review
PURPOSE OF REVIEW
There is considerable overlap between the features of avoidant-restrictive food intake disorder (ARFID) and autism. The purpose of this scoping review is to provide an overview of studies published on ARFID and autism in 2022 and the first half of 2023.
RECENT FINDINGS
ARFID and autism are highly heritable conditions that often co-occur. In a large autism cohort, 21% of participants and 17% of their parents presented with avoidant-restrictive features. Of children diagnosed with ARFID, 8.2-54.8% are autistic. More than half of individuals with ARFID also have other neurodevelopmental, psychiatric, or somatic diagnoses. Anxiety, depression, sleep disorders, and learning difficulties are particularly common co-occurring issues. Various strategies have been developed to support autistic children with feeding difficulties. It appears that their feeding difficulties, particularly sensory sensitivities, food preferences, and mealtime rituals and routines frequently persist into adolescence and adulthood, but research on optimal support for adults and adolescents is still scarce. Untreated ARFID in autistic individuals may lead to serious complications.
SUMMARY
Individuals seeking specialist care for autism, eating disorders, or gender dysphoria should be screened for ARFID. More research is needed on how to support autistic adolescents and adults with features of ARFID.
Topics: Child; Adult; Adolescent; Humans; Avoidant Restrictive Food Intake Disorder; Autistic Disorder; Feeding and Eating Disorders; Anxiety; Eating
PubMed: 37781978
DOI: 10.1097/YCO.0000000000000896 -
Medicina Feb 2022Autism or ASDs are neurodevelopmental disorders that affect socio-communicative development, interests, and a restricted and stereotyped pattern of interests and...
INTRODUCTION
Autism or ASDs are neurodevelopmental disorders that affect socio-communicative development, interests, and a restricted and stereotyped pattern of interests and behavior. Epidemiological studies indicate that there are 3 times more boys affected with autism than girls but clinical studies indicate a much higher preponderance in favor of boys. There is an under detection of autism with a late or wrong diagnosis more frequently in girls and women with autism.
OBJECTIVE
To analyze the clinical presentation of autism in girls and women, factors related to under detection and diagnosis or diagnostic confusion, and mechanisms for improving its diagnosis and intervention.
MATERIAL AND METHODS
We will analyze the differences in the clinical presentation of autism between genders, social and cultural factors, cognitive aspects and differential comorbidities in boys and girls with autism, current limitations of diagnostic instruments for the evaluation of autism and which are aspects to improve for a better identification, earlier and more accurate of autism in the female gender.
CONCLUSIONS
Autism in the female gender presents differential clinical, cognitive and biological characteristics associated with under detection and late diagnosis.
Topics: Autism Spectrum Disorder; Autistic Disorder; Female; Humans; Male; Sex Factors
PubMed: 35171806
DOI: No ID Found -
The Lancet. Child & Adolescent Health Nov 2019
Review
Topics: Autistic Disorder; Child; Child Behavior; Humans; Music Therapy; Social Behavior
PubMed: 31494080
DOI: 10.1016/S2352-4642(19)30265-2 -
BMJ (Clinical Research Ed.) Jan 2020Autism spectrum disorder (referred to here as autism) is one of several overlapping neurodevelopmental conditions that have variable impacts on different individuals.... (Review)
Review
Autism spectrum disorder (referred to here as autism) is one of several overlapping neurodevelopmental conditions that have variable impacts on different individuals. This variability results from dynamic interactions between biological and non-biological risk factors, which result in increasing differentiation between individuals over time. Although this differentiation continues well into adulthood, the infancy period is when the brain and behavior develop rapidly, and when the first signs and symptoms of autism emerge. This review discusses advances in our understanding of the causal pathways leading to autism and overlapping neurodevelopmental conditions. Research is also mapping trajectories of brain and behavioral development for some risk groups, namely later born siblings of children with autism and/or infants referred because of developmental concerns. This knowledge has been useful in improving early identification and establishing the feasibility of targeted interventions for infant risk groups before symptoms arise. However, key knowledge gaps remain, such as the discovery of protective factors (biological or environmental) that may mitigate the impact of risk. Also, the dynamic mechanisms that underlie the associations between risk factors and outcomes need further research. These include the processes of resilience, which may explain why some individuals at risk for autism achieve better than expected outcomes. Bridging these knowledge gaps would help to provide tools for early identification and intervention that reflect dynamic developmental pathways from risk to outcomes.
Topics: Autistic Disorder; Brain; Child Development; Early Diagnosis; Early Intervention, Educational; Humans; Infant; Prognosis; Protective Factors; Resilience, Psychological; Risk Factors
PubMed: 31992555
DOI: 10.1136/bmj.l6880 -
JAMA Sep 2023In the US, children with signs of autism often experience more than 1 year of delay before diagnosis and often experience longer delays if they are from racially,... (Comparative Study)
Comparative Study
IMPORTANCE
In the US, children with signs of autism often experience more than 1 year of delay before diagnosis and often experience longer delays if they are from racially, ethnically, or economically disadvantaged backgrounds. Most diagnoses are also received without use of standardized diagnostic instruments. To aid in early autism diagnosis, eye-tracking measurement of social visual engagement has shown potential as a performance-based biomarker.
OBJECTIVE
To evaluate the performance of eye-tracking measurement of social visual engagement (index test) relative to expert clinical diagnosis in young children referred to specialty autism clinics.
DESIGN, SETTING, AND PARTICIPANTS
In this study of 16- to 30-month-old children enrolled at 6 US specialty centers from April 2018 through May 2019, staff blind to clinical diagnoses used automated devices to measure eye-tracking-based social visual engagement. Expert clinical diagnoses were made using best practice standardized protocols by specialists blind to index test results. This study was completed in a 1-day protocol for each participant.
MAIN OUTCOMES AND MEASURES
Primary outcome measures were test sensitivity and specificity relative to expert clinical diagnosis. Secondary outcome measures were test correlations with expert clinical assessments of social disability, verbal ability, and nonverbal cognitive ability.
RESULTS
Eye-tracking measurement of social visual engagement was successful in 475 (95.2%) of the 499 enrolled children (mean [SD] age, 24.1 [4.4] months; 38 [8.0%] were Asian; 37 [7.8%], Black; 352 [74.1%], White; 44 [9.3%], other; and 68 [14.3%], Hispanic). By expert clinical diagnosis, 221 children (46.5%) had autism and 254 (53.5%) did not. In all children, measurement of social visual engagement had sensitivity of 71.0% (95% CI, 64.7% to 76.6%) and specificity of 80.7% (95% CI, 75.4% to 85.1%). In the subgroup of 335 children whose autism diagnosis was certain, sensitivity was 78.0% (95% CI, 70.7% to 83.9%) and specificity was 85.4% (95% CI, 79.5% to 89.8%). Eye-tracking test results correlated with expert clinical assessments of individual levels of social disability (r = -0.75 [95% CI, -0.79 to -0.71]), verbal ability (r = 0.65 [95% CI, 0.59 to 0.70]), and nonverbal cognitive ability (r = 0.65 [95% CI, 0.59 to 0.70]).
CONCLUSIONS AND RELEVANCE
In 16- to 30-month-old children referred to specialty clinics, eye-tracking-based measurement of social visual engagement was predictive of autism diagnoses by clinical experts. Further evaluation of this test's role in early diagnosis and assessment of autism in routine specialty clinic practice is warranted.
TRIAL REGISTRATION
ClinicalTrials.gov Identifier: NCT03469986.
Topics: Child, Preschool; Humans; Infant; Ambulatory Care Facilities; Asian; Autistic Disorder; Eye Movements; Eye-Tracking Technology; Social Behavior; Visual Perception
PubMed: 37668621
DOI: 10.1001/jama.2023.13295 -
Genes, Brain, and Behavior Jan 2022
Topics: Animals; Autistic Disorder; Developmental Disabilities; Humans
PubMed: 34891220
DOI: 10.1111/gbb.12789 -
Genetics in Medicine : Official Journal... Oct 2023
Topics: Humans; Autistic Disorder; Autism Spectrum Disorder
PubMed: 37330697
DOI: 10.1016/j.gim.2023.100919 -
Advances in Neurobiology 2020Autism spectrum disorder (ASD) is a complex heterogeneous consortium of pervasive development disorders (PDD) which ranges from atypical autism, autism, and Asperger... (Review)
Review
Autism spectrum disorder (ASD) is a complex heterogeneous consortium of pervasive development disorders (PDD) which ranges from atypical autism, autism, and Asperger syndrome affecting brain in the developmental stage. This debilitating neurodevelopmental disorder results in both core as well as associated symptoms. Core symptoms observed in autistic patients are lack of social interaction, pervasive, stereotyped, and restricted behavior while the associated symptoms include irritability, anxiety, aggression, and several comorbid disorders.ASD is a polygenic disorder and is multifactorial in origin. Copy number variations (CNVs) of several genes that regulate the synaptogenesis and signaling pathways are one of the major factors responsible for the pathogenesis of autism. The complex integration of various CNVs cause mutations in the genes which code for molecules involved in cell adhesion, voltage-gated ion-channels, scaffolding proteins as well as signaling pathways (PTEN and mTOR pathways). These mutated genes are responsible for affecting synaptic transmission by causing plasticity dysfunction responsible, in turn, for the expression of ASD.Epigenetic modifications affecting DNA transcription and various pre-natal and post-natal exposure to a variety of environmental factors are also precipitating factors for the occurrence of ASD. All of these together cause dysregulation of glutamatergic signaling as well as imbalance in excitatory: inhibitory pathways resulting in glial cell activation and release of inflammatory mediators responsible for the aberrant social behavior which is observed in autistic patients.In this chapter we review and provide insight into the intricate integration of various genetic, epigenetic, and environmental factors which play a major role in the pathogenesis of this disorder and the mechanistic approach behind this integration.
Topics: Autism Spectrum Disorder; Autistic Disorder; DNA Copy Number Variations; Epigenesis, Genetic; Gene-Environment Interaction; Humans
PubMed: 32006358
DOI: 10.1007/978-3-030-30402-7_4 -
Current Pharmaceutical Design 2020Autism Spectrum Disorder (ASD) is an emerging health problem involving 1 out of every 68 children. The incidence rate of autism has increased 3 folds during the last 3... (Review)
Review
Autism Spectrum Disorder (ASD) is an emerging health problem involving 1 out of every 68 children. The incidence rate of autism has increased 3 folds during the last 3 decades. Due to the illusive picture of aetiology, a considerable number of autistic children fail to receive proper behavioural and medicational treatment. The present study provides a cumulative account of autism risk factors. Several factors including the gene expression and gene mutations, environmental pollution, metal ion accumulation, exposure to pesticides, immune deficiencies, viral infections, mother's age, health, mental status, mother's interactions with the foetus, vaccination of mother and children, and modulations in gut microbiota have been debated. These risk factors may contribute to the development of autism either independently or synergistically leading to a broad spectrum of characteristics observed in autistic patients. The variable quantitative influence of a wide spectrum of risk factors may result in a unique set of features in each autistic individual. However, the exact mechanism behind the combined impact of various aetiological factors is poorly understood hindering the adaptation of specified and effective therapies.
Topics: Autism Spectrum Disorder; Autistic Disorder; Child; Environmental Pollution; Gastrointestinal Microbiome; Humans; Mutation; Risk Factors; Vaccination
PubMed: 32101114
DOI: 10.2174/1381612826666200226101218