Introduction: Diagnosing and treating autism and child psychoses is very difficult; these pathologies impact not only the child's life but also the family as a whole. Therefore caution is required when giving a diagnosis with prognostic implications. We use the psychodynamic perspective in order to take into consideration both pathological and healthy diagnostic aspects, and to promote evolutionary potential of each patient.
Objective: To determine the inter-rater reliability and to test quantitatively and qualitatively the variables involved in the diagnoses of patients with suspected autism and child psychoses, based upon psychodynamic concepts.
Methods: An inter-rater reliability study was carried on, based upon the diagnostic evaluation of videos of patients with suspected autism or child psychoses who attended the diagnostic meeting (observation session) at the Instituto de Ortopedia Infantil Roosevelt.
Results: Kappa values were obtained, ranging from .24 to .50, with a reliability force varying from slight to moderate, and κ=.24 for personality organization. This type of diagnosis takes into account both the pathological and healthy aspects which make up personality organization. Finally, limitations and aspects that should be considered in further studies were discussed.
Conclusions: The results reinforce the need to evaluate a child with major disorders in an interdisciplinary team, and but a single observer, in order to allow discussion, and debate, and therefore, avoid partial readings of the patient' s psychological functioning.
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http://dx.doi.org/10.1016/j.rcp.2017.08.003 | DOI Listing |
Biol Open
January 2025
Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Cell fate decisions during cortical development sculpt the identity of long-range connections that subserve complex behaviors. These decisions are largely dictated by mutually exclusive transcription factors, including CTIP2/Bcl11b for subcerebral projection neurons and BRN1/Pou3f3 for intra-telencephalic projection neurons. We have recently reported that the balance of cortical CTIP2-expressing neurons is altered in a mouse model of DDX3X syndrome, a female-biased neurodevelopmental disorder associated with intellectual disability, autism spectrum disorder, and significant motor challenges.
View Article and Find Full Text PDFMol Genet Genomic Med
February 2025
Department of Chemistry and Molecular Biology, Gothenburg University, Gothenburg, Sweden.
Background: SYNGAP1 encodes a Ras/Rap GTPase-activating protein that is predominantly expressed in the brain with the functional roles in regulating synaptic plasticity, spine morphogenesis, and cognition function. Pathogenic variants in SYNGAP1 have been associated with a spectrum of neurodevelopmental disorders characterized by developmental delays, intellectual disabilities, epilepsy, hypotonia, and the features of autism spectrum disorder. The aim of this study was to identify a novel SYNGAP1 gene variant linked to neurodevelopmental disorders and to evaluate the pathogenicity of the detected variant.
View Article and Find Full Text PDFAging Cell
January 2025
Molecular Biology and Genetics Unit, Transcription and Disease Laboratory, Jawaharlal Nehru Centre for Advanced Scientific Research, Bengaluru, India.
SYNGAP1 is a Ras GTPase-activating protein that plays a crucial role during brain development and in synaptic plasticity. Sporadic heterozygous mutations in SYNGAP1 affect social and emotional behaviour observed in intellectual disability (ID) and autism spectrum disorder (ASD). Although neurophysiological deficits have been extensively studied, the epigenetic landscape of SYNGAP1 mutation-mediated intellectual disability is unexplored.
View Article and Find Full Text PDFInt J Psychoanal
December 2024
Psychologist, Psychotherapist at CMPP de Courbevoie, Courbevoie, France.
In this article, the author aims to shed new light on how sensoriality can be considered and deployed in the treatment of severely autistic children. Whereas psychoanalysis has explored in detail the defensive function that sensoriality can have for these patients, the author puts forward the idea that this can be used to further the differentiation and structuration of the body ego. Through some detailed clinical material, drawn from the psychotherapy of a five-year-old girl, the author sets out to illustrate how work on the different sensations can lead to relational openings that are initially specific to each sensory channel and then more general, as well as how the access to otherness emerges from this work on sensations.
View Article and Find Full Text PDFFront Child Adolesc Psychiatry
January 2025
Bronx-Lebanon Hospital Center, New York, NY, United States.
Background: Autism spectrum disorder is a neurodevelopmental condition characterized by persistent challenges in social communication and restricted, repetitive behaviors. Emotion recognition deficits are a core feature of ASD, impairing social functioning and quality of life. This meta-analysis evaluates emotion recognition accuracy and response time in individuals with autism spectrum disorder compared to neurotypical individuals and those with other neurodevelopmental disorders.
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