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Revista Chilena de Pediatria Oct 2019
Topics: Autism Spectrum Disorder; Disabled Persons; Ethics; Humans
PubMed: 31859728
DOI: 10.32641/rchped.v90i5.1318 -
Zeitschrift Fur Kinder- Und... Jul 2023Pathological Demand Avoidance: Current State of Research and Critical Discussion Pathological demand avoidance (PDA) describes children who obsessively avoid any demand... (Review)
Review
Pathological Demand Avoidance: Current State of Research and Critical Discussion Pathological demand avoidance (PDA) describes children who obsessively avoid any demand to a clinically relevant extent and is presently the subject of controversial discussion. Their behavior may be interpreted as an attempt to reduce anxiety by establishing security and predictability through rigid control of the environment as well as the demands and expectations of others. The symptoms are described in the context of autism spectrum disorder. This article reviews the current state of research and discusses the questionable validity of pathological demand avoidance as an independent diagnostic entity. It also addresses the impact of the behavior profile on development and treatment. This paper concludes that PDA is not a diagnostic entity nor a subtype of autism; rather, it is a behavior profile that can be associated with adverse illness progression and unfavorable outcomes. PDA is one feature in a complex model. We must consider not only the patient's characteristics but also those of the caregiver and their psychopathology. The reactions of the interaction partners as well as the treatment decisions play a key role play for the affected individuals. Substantial research is needed concerning the occurrence of the behavior profile PDA in diverse disorders, treatment options, and treatment responses.
Topics: Child; Humans; Autism Spectrum Disorder; Child Development Disorders, Pervasive; Child Behavior Disorders; Anxiety; Autistic Disorder
PubMed: 36892327
DOI: 10.1024/1422-4917/a000927 -
Nature Feb 2017Brain enlargement has been observed in children with autism spectrum disorder (ASD), but the timing of this phenomenon, and the relationship between ASD and the...
Brain enlargement has been observed in children with autism spectrum disorder (ASD), but the timing of this phenomenon, and the relationship between ASD and the appearance of behavioural symptoms, are unknown. Retrospective head circumference and longitudinal brain volume studies of two-year olds followed up at four years of age have provided evidence that increased brain volume may emerge early in development. Studies of infants at high familial risk of autism can provide insight into the early development of autism and have shown that characteristic social deficits in ASD emerge during the latter part of the first and in the second year of life. These observations suggest that prospective brain-imaging studies of infants at high familial risk of ASD might identify early postnatal changes in brain volume that occur before an ASD diagnosis. In this prospective neuroimaging study of 106 infants at high familial risk of ASD and 42 low-risk infants, we show that hyperexpansion of the cortical surface area between 6 and 12 months of age precedes brain volume overgrowth observed between 12 and 24 months in 15 high-risk infants who were diagnosed with autism at 24 months. Brain volume overgrowth was linked to the emergence and severity of autistic social deficits. A deep-learning algorithm that primarily uses surface area information from magnetic resonance imaging of the brain of 6-12-month-old individuals predicted the diagnosis of autism in individual high-risk children at 24 months (with a positive predictive value of 81% and a sensitivity of 88%). These findings demonstrate that early brain changes occur during the period in which autistic behaviours are first emerging.
Topics: Autism Spectrum Disorder; Brain; Child, Preschool; Family Health; Female; Humans; Infant; Longitudinal Studies; Male; Neuroimaging; Prognosis; Risk; Social Behavior
PubMed: 28202961
DOI: 10.1038/nature21369 -
International Journal of Molecular... Nov 2023Autism spectrum disorder (ASD) is a neurodevelopmental condition with symptoms that affect the whole personality and all aspects of life. Although there is a high degree... (Review)
Review
Autism spectrum disorder (ASD) is a neurodevelopmental condition with symptoms that affect the whole personality and all aspects of life. Although there is a high degree of heterogeneity in both its etiology and its characteristic behavioral patterns, the disorder is well-captured along the autistic triad. Currently, ASD status can be confirmed following an assessment of behavioral features, but there is a growing emphasis on conceptualizing autism as a spectrum, which allows for establishing a diagnosis based on the level of support need, free of discrete categories. Since ASD has a high genetic predominance, the number of genetic variations identified in the background of the condition is increasing exponentially as genetic testing methods are rapidly evolving. However, due to the huge amount of data to be analyzed, grouping the different DNA variations is still challenging. Therefore, in the present review, a multidimensional classification scheme was developed to accommodate most of the currently known genetic variants associated with autism. Genetic variations have been grouped according to six criteria (extent, time of onset, information content, frequency, number of genes involved, inheritance pattern), which are themselves not discrete categories, but form a coherent continuum in line with the autism spectrum approach.
Topics: Humans; Autism Spectrum Disorder; Autistic Disorder; Inheritance Patterns; Neurodevelopmental Disorders; Genetic Variation; DNA Copy Number Variations
PubMed: 38069091
DOI: 10.3390/ijms242316768 -
International Journal of Environmental... Feb 2024Autism Spectrum Disorder (ASD) belongs to the group of neurodevelopmental disorders, and has a high prevalence, affecting 1 in 100 children according to data from the... (Review)
Review
Autism Spectrum Disorder (ASD) belongs to the group of neurodevelopmental disorders, and has a high prevalence, affecting 1 in 100 children according to data from the World Health Organization (WHO). To be diagnosed with ASD, the child must have persistent deficits in communication and social interactions, and restricted and repetitive patterns of behavior, interests, or activities. Despite its prevalence, the etiology of ASD is still uncertain, with multifactorial characteristics, including those associated with the gestational period, where maternal exposure to biological, chemical, or physical hazards occurs, some of which have already been proposed as causes of ASD outcomes. Since pregnancy requires a balance between the maternal-fetal binomial, the breakdown of this balance caused by such environmental hazards can lead to altered fetal neurodevelopment, including ASD. With this firmly in mind, this review aims to compile the most recent data on the gestational causes that may be associated with the development of ASD to help health professionals identify risk factors and act for the prevention and management of ASD.
Topics: Child; Pregnancy; Female; Humans; Autism Spectrum Disorder; Risk Factors; Maternal Exposure; Causality; Neurodevelopmental Disorders
PubMed: 38541246
DOI: 10.3390/ijerph21030244 -
Revista Chilena de Pediatria 2015Autism Spectrum Disorders (ASD) are characterized by impairments in communication and social interaction, as well as restricted and repetitive patterns of behavior. They... (Review)
Review
Autism Spectrum Disorders (ASD) are characterized by impairments in communication and social interaction, as well as restricted and repetitive patterns of behavior. They have a prevalence of 0.6% in the general population, although there are no national statistics. Even though their evolution is variable, it has been observed that early intervention is an important factor determining prognosis. The aim of this study is to update concepts regarding the current available evidence on the importance of early intervention. After analyzing the collected information, the importance of early intervention programs for children with ASD is confirmed, as well as the role of pediatricians and other health professionals in the early detection of these disorders.
Topics: Autism Spectrum Disorder; Child; Early Diagnosis; Humans; Prognosis
PubMed: 26235694
DOI: 10.1016/j.rchipe.2015.04.025 -
Autism Spectrum Disorder: Brain Areas Involved, Neurobiological Mechanisms, Diagnoses and Therapies.International Journal of Molecular... Feb 2024Autism spectrum disorder (ASD), affecting over 2% of the pre-school children population, includes an important fraction of the conditions accounting for the... (Review)
Review
Autism spectrum disorder (ASD), affecting over 2% of the pre-school children population, includes an important fraction of the conditions accounting for the heterogeneity of autism. The disease was discovered 75 years ago, and the present review, based on critical evaluations of the recognized ASD studies from the beginning of 1990, has been further developed by the comparative analyses of the research and clinical reports, which have grown progressively in recent years up to late 2023. The tools necessary for the identification of the ASD disease and its related clinical pathologies are genetic and epigenetic mutations affected by the specific interaction with transcription factors and chromatin remodeling processes occurring within specific complexes of brain neurons. Most often, the ensuing effects induce the inhibition/excitation of synaptic structures sustained primarily, at dendritic fibers, by alterations of flat and spine response sites. These effects are relevant because synapses, established by specific interactions of neurons with glial cells, operate as early and key targets of ASD. The pathology of children is often suspected by parents and communities and then confirmed by ensuing experiences. The final diagnoses of children and mature patients are then completed by the combination of neuropsychological (cognitive) tests and electro-/magneto-encephalography studies developed in specialized centers. ASD comorbidities, induced by processes such as anxieties, depressions, hyperactivities, and sleep defects, interact with and reinforce other brain diseases, especially schizophrenia. Advanced therapies, prescribed to children and adult patients for the control of ASD symptoms and disease, are based on the combination of well-known brain drugs with classical tools of neurologic and psychiatric practice. Overall, this review reports and discusses the advanced knowledge about the biological and medical properties of ASD.
Topics: Humans; Child, Preschool; Child; Autism Spectrum Disorder; Autistic Disorder; Brain; Brain Diseases; Neurons
PubMed: 38397100
DOI: 10.3390/ijms25042423 -
Epilepsy & Behavior : E&B Jun 2015There is an increasing recognition of clinical overlap in patients presenting with epilepsy and autism spectrum disorder (ASD), and a great deal of new information... (Review)
Review
There is an increasing recognition of clinical overlap in patients presenting with epilepsy and autism spectrum disorder (ASD), and a great deal of new information regarding the genetic causes of both disorders is available. Several biological pathways appear to be involved in both disease processes, including gene transcription regulation, cellular growth, synaptic channel function, and maintenance of synaptic structure. We review several genetic disorders where ASD and epilepsy frequently co-occur, and we discuss the screening tools available for practicing neurologists and epileptologists to help determine which patients should be referred for formal ASD diagnostic evaluation. Finally, we make recommendations regarding the workflow of genetic diagnostic testing available for children with both ASD and epilepsy. This article is part of a Special Issue entitled "Autism and Epilepsy".
Topics: Autism Spectrum Disorder; Child; Epilepsy; Gene Expression Regulation; Genetic Testing; Humans; Synapses
PubMed: 25900226
DOI: 10.1016/j.yebeh.2015.03.017 -
Italian Journal of Pediatrics Mar 2021Potential overlaps exist between psychopathological features of Anorexia Nervosa (AN) and Autism Spectrum Disorder (ASD). The impact of malnutrition on autistic traits...
BACKGROUND
Potential overlaps exist between psychopathological features of Anorexia Nervosa (AN) and Autism Spectrum Disorder (ASD). The impact of malnutrition on autistic traits in patients with AN should be considered. This study investigates possible associations among the psychopathology of Eating Disorders (EDs), ASD traits and BMI in a group of young patients with AN, using the EDI-3 (Eating Disorder Inventory-3) test and gold-standard measures for ASD.
METHODS
Prospective study involving 23 inpatients admitted to an Italian Centre for paediatric ED. ASD traits and ED psychopathology were assessed administering the ADOS-2 (Autism Diagnostic Observation Schedule-2), AQ (Autism Quotient) and EDI-3 tests. Both present and past autistic traits were investigated using different versions of AQ. Correlations were adjusted for BMI, Obsessive Compulsive Disorder (OCD) comorbidity and concurrent antipsychotic treatments.
RESULTS
An ASD diagnosis was possible in 22% of patients. Significant correlations were documented between ASD traits and ED psychopathology: AQ total-Interpersonal problems (IPC) (p = 0.041); AQ total-Global psychological maladjustment (GMPC) (p = 0.027); AQ social skills-Ineffectiveness (IC) (p = 0.018); AQ social skills-IPC (p = 0.019); AQ social skills-Affective problems (APC) (p = 0.025); AQ social skills-GMPC (p = 0.007); AQ attention switching-IPC (p = 0.020); ADOS-2 imagination-IC (p = 0.035). These correlations were independent of BMI, OCD and antipsychotic treatments.
CONCLUSIONS
ASD traits presented high prevalence in a group of young inpatients with AN. These traits were significantly correlated to 4 specific EDI-3 subscales and independent of BMI. This is the first study to investigate the relationship between ASD traits as measured with gold-standard measures, EDI-3 scores, and BMI.
Topics: Adolescent; Anorexia Nervosa; Autism Spectrum Disorder; Female; Humans; Italy; Male; Prospective Studies; Psychiatric Status Rating Scales; Surveys and Questionnaires; Young Adult
PubMed: 33750445
DOI: 10.1186/s13052-021-01006-7 -
Medical Archives (Sarajevo, Bosnia and... 2024Attention-deficit hyperactivity disorder (ADHA) is one of the most common comorbid disorders of autism spectrum disorder (ASD) that can accompany autism, triggered by... (Review)
Review
BACKGROUND
Attention-deficit hyperactivity disorder (ADHA) is one of the most common comorbid disorders of autism spectrum disorder (ASD) that can accompany autism, triggered by it, or be a consequence of it.
OBJECTIVE
This review explored the prevalence of the comorbidity of both disorders, neurobiological background, symptoms, latest assessment methods, and therapeutic approaches. It concluded that effective assessment, diagnosis and management of ADHD in ASD children and adults is essential for this group of patients to thrive and live a good quality of life. Further research is recommended to explore the most effective intervention for such important members of our society.
CONCLUSION
More studies are needed to understand the mechanisms underlying these comorbidities, and to prevent the misdiagnosis and mismanagement of these disorders. Also, to develop up to date personalized therapeutic plans for such children.
Topics: Child; Adult; Humans; Attention Deficit Disorder with Hyperactivity; Autism Spectrum Disorder; Quality of Life; Comorbidity; Prevalence
PubMed: 38566879
DOI: 10.5455/medarh.2024.78.159-163