The hallmarks of autism

Crespi, Bernard J.

doi:10.3389/fpsyt.2022.937163

Cited by 4 publications

(4 citation statements)

References 40 publications

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“…Further, since ICD-11 draws particular attention to high-functioning (adult) individuals with ASD, there is concern that "prototypical" [44] as well as low-functioning cases increasingly become neglected in research and clinical practice. This leads to the lively and vital discussion about heterogeneity and prototypes presented elsewhere [5,[44][45][46][47][48][49], which is not the subject of this perspective article.…”

Section: Discussionmentioning

confidence: 99%

Autism spectrum disorder in ICD-11—a critical reflection of its possible impact on clinical practice and research

Kamp-Becker

2024

Mol Psychiatry

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This perspective article compares and contrasts the conceptualization of Autism Spectrum Disorder (ASD) in ICD-11 and DSM-5. By guiding the user through the ICD-11 text, it is argued that, in contrast to DSM-5, ICD-11 allows a high variety in symptom combinations, which results in an operationalization of ASD that is in favor of an extreme diverse picture, yet possibly at the expense of precision, including unforeseeable effects on clinical practice, care, and research. The clinical utility is questionable as this conceptualization can hardly be differentiated from other mental disorders and autism-like traits. It moves away from an observable, behavioral, and neurodevelopmental disorder to a disorder of inner experience that can hardly be measured objectively. It contains many vague and subjective concepts that lead to non-falsifiable diagnoses. This bears a large danger of false positive diagnoses, of further increased prevalence rates, limitations of access to ASD-specific services and of increasing the non-specificity of treatments. For research, the hypothesis is that the specificity of ASD will be reduced and this will additional increase the already high heterogeneity with the effect that replication of studies will be hampered. This could limit our understanding of etiology and biological pathways of ASD and bears the risk that precision medicine, i.e., a targeted approach for individual treatment strategies based on precise diagnostic markers, is more far from becoming reality. Thus, a more precise, quantitative description and more objective measurement of symptoms are suggested that define the clinical ASD phenotype. Identification of core ASD subtypes/endophenotypes and a precise description of symptoms is the necessary next step to advance diagnostic classification systems. Therefore, employing a more finely grained, objective, clinical symptom characterization which is more relatable to neurobehavioral concepts is of central significance.

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Section: Discussionmentioning

confidence: 99%

Autism spectrum disorder in ICD-11—a critical reflection of its possible impact on clinical practice and research

Kamp-Becker

2024

Mol Psychiatry

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“…Cases of multifactorial etiology arising from the interaction between common genetic variants and environmental influences present a greater probability of familial recurrence or the occurrence of cases with an extended or milder autistic phenotype in the family. Multifactorial autism can be characterized as a psychological trait in itself, since it is not possible to identify a specific etiological agent [39][40][41][42].…”

Section: Clinical Epidemiology Of Autismmentioning

confidence: 99%

Theoretical–Methodological Foundations for the Global Integration Method (Método de Integração Global—MIG) in the Treatment of Autism Spectrum Disorder

Loffi,

Cruz,

Paiva

et al. 2024

Children

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Currently, there is no intervention model for autism spectrum disorder (ASD) that addresses all levels and factors of the International Classification of Functioning, Disability and Health (ICF, WHO). The most researched programs focus on naturalistic, developmental and behavioral approaches to socio-communication. Less attention has been paid to motor and environmental reactivity aspects (behavior/interest restriction and sensory reactivity). The evidence rationale for the Global Integration Method (MIG, “Método de Integração Global”), a model addressing sensorimotor reactivity in addition to socio-communication, is presented. MIG is an integrative, interdisciplinary, family-oriented intervention and naturalistic program that addresses all levels and moderating factors of ASD’s impact. MIG’s theoretical rationale is based on the predictive coding impairment and embodied cognition hypotheses. MIG incorporates both bottom-up (flexible therapeutic suit, social-motor synchronization) and top-down (schematic social information processing, narratives, imagery) strategies to promote the building and use of accurate, flexible and context-sensitive internal predictive models. MIG is based on the premises that predictive coding improves both socio-communication and environmental reactivity, and that the postural stabilization provided by the flexible therapeutic suit frees information processing resources for socio-cognitive learning. MIG builds on interdisciplinary, professionally and parentally mediated work based on behavioral principles of intensive training in a situated environment.

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“…CNV classification was performed using databases such as the Database of Genomic Variants (DGV; see text footnote 1), Database of Chromosome Imbalance and Phenotype in Humans using Ensembl Resources (Decipher), 1 University of California Santa Cruz (UCSC) Genome Browser, 2 and Clin Var. 3 Sfari (see footnote 3), PubMed, 4 Online Mendelian Inheritance in Man (OMIM) (see text footnote 2) GeneCards, 5 and Gene Curation Coalition annotations (Gen CC; see text footnote 4) were also checked for evaluating genotype-phenotype association.…”

Section: Bioinformatic Analysismentioning

confidence: 99%

“…Despite increasing attention, many cases, particularly those with normal intelligence, remain undiagnosed or misdiagnosed until adulthood (2). They often come to the attention of the clinician for other mental disorders (such as anxiety, mood disorders, psychoses, trauma, and stress-related disorders) that can mislead the recognition of autistic traits (3)(4)(5). For this reason, it is being debated whether some mental disorders could be entangled across the lifespan with autism spectrum subthreshold forms that may constitute a vulnerability factor for mental disorders (6).…”

Section: Introductionmentioning

confidence: 99%

Case report: Familial case with autism spectrum and bipolar disorder showing a 20q11.21 microduplication including TM9SF4

Simoncini,

Violi,

Valetto

et al. 2023

Front. Psychiatry

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Autism spectrum disorder (ASD) is characterized by multifactorial etiology and high heritability but can be challenging to be diagnosed, especially in cases presenting subthreshold symptoms with no cognitive or language impairment, which may not be identified until adulthood but may occur in family members of subjects with ASD. This study explores the possible correlation between a genomic imbalance and clinical phenotypes in a family case of a proband with ASD, with subjects presenting full-blown or subthreshold ASD and/or mood disorders. Clinical assessments were carried out by means of the Structured Clinical Interview for DSM-5 (SCID-5) disorders, Autism Spectrum Quotient (AQ), Autism Diagnostic Interview–Revised (ADI-R), Autism Diagnostic Observation Schedule Module 2 (ADOS-2), and Adult Autism Subthreshold Spectrum (AdAS Spectrum). The genetic evaluation included array comparative genomic hybridization (array-CGH). The proband was diagnosed with ASD and bipolar disorder type I (BD-I), her twin brothers with ASD and intellectual disability (ID), and her father and sister with BD type II (BD-II) and autism traits. The proband, her father, twin brothers, and older sister showed a microduplication of 350 kb in 20q11.21. In contrast, the proband’s mother did not present the microduplication or any mental disorder. This study reports a microduplication that segregates with family members affected by ASD or autistic traits comorbid in some cases with bipolar disorder, and that has never been reported in healthy subjects. Among the genes harbored in this region, the TM9SF4 gene has been recently implicated in risk for ASD.

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The hallmarks of autism

Cited by 4 publications

References 40 publications

Autism spectrum disorder in ICD-11—a critical reflection of its possible impact on clinical practice and research

Autism spectrum disorder in ICD-11—a critical reflection of its possible impact on clinical practice and research

Theoretical–Methodological Foundations for the Global Integration Method (Método de Integração Global—MIG) in the Treatment of Autism Spectrum Disorder

Case report: Familial case with autism spectrum and bipolar disorder showing a 20q11.21 microduplication including TM9SF4

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