scholarly journals De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart Defects: Case Report With Literature Review

2020 ◽  
Vol 8 ◽  
Author(s):  
Cristina Gug ◽  
Dorina Stoicanescu ◽  
Ioana Mozos ◽  
Laura Nussbaum ◽  
Mariana Cevei ◽  
...  
2019 ◽  
Vol 23 (4) ◽  
pp. 185-188
Author(s):  
Jing Ling Tay ◽  
Alias Lijo ◽  
Bixue Wen ◽  
Susan Zachariah ◽  
Manu Lal

Purpose The purpose of this paper is to illustrate a lady with regression and disassociation with multiple psychiatric symptoms. This case highlights the limitations of descriptive psychopathology and the usefulness of psychodynamic psychopathology in explaining and managing the mental phenomena. Design/methodology/approach Case report: the patient R is a 29-year-old lady. She has been known to the mental health institution since 14 years old. Over the next 15 years, she was admitted 27 times. She had been diagnosed with schizophrenia, bipolar disorder, depression, mental retardation, autism spectrum disorder and dissociative identity disorder. She has been subjected to long-standing abuse by her mother. Findings Discussion: labyrinthine diagnosis – placing a diagnosis on R proves to be challenging. When R presents with psychosis like and depressive symptoms, she is labelled as having a primary psychotic disorder and mood disorder, respectively. When R regresses to the P or the non-verbal individual persona, she is deemed to have mental retardation and autism spectrum disorder. Furthermore, R’s intelligence quotient was tested to be 65 at 14 years old. However, the intelligence quotient test was not consistent with her level of functioning during her non regressed state and therefore not considered reliable. Explosive and emotional outbursts and a positive family history of bipolar disorder rendered her to be diagnosed with the same. The multiple personas seem classical of dissociative personality disorder. However, the personas seem to exist on a continuum and are not independent of each other. Upon regression, R seems to be fixated at the oral stage. R also reported amnesia of events especially her emotional outbursts, while she was displaying her third persona. Dissociation could have rendered her unable to remember these events. Originality/value While the use of descriptive psychopathology is pragmatic and has the obvious advantage of being free from the burden of seeking explanation of the psychopathological phenomenon in a theoretical construct such as the psychodynamic framework, not all patients can be awarded a meaningful diagnosis using such an approach. This case report exemplifies that psychiatric presentation in some patients refuses to be neatly subjected to a useful psychiatric diagnosis using descriptive psychopathology as the diagnostic tool resulting in a confusing array of diagnoses, with each diagnosis representing an isolated facet of the psychological world of the patient while ignoring the rest. Explanatory models of psychopathology such as psychodynamic psychopathology still remain relevant in such cases for both understanding and explanation of the mental phenomena, and devising appropriate intervention strategies.


2016 ◽  
Vol 18 (suppl 3) ◽  
pp. iii40.5-iii41
Author(s):  
Pournima Navalkele ◽  
Elizabeth Varga ◽  
Kellie Haworth ◽  
Scott Coven ◽  
Diana S. Osorio ◽  
...  

2017 ◽  
Vol Ano 7 ◽  
pp. 38-41
Author(s):  
Ana Sofia Pontes Trillo ◽  
Mariana Gianola Arruda ◽  
Camila Fernandes Bonifácio Jubara ◽  
Isabela Mosconi Caldas ◽  
Sonia Maria Motta Palma

O presente relato descreve o caso de um paciente com transtorno do espectro autista (TEA) associado ao mosaicismo genético 46XY, uma condição rara e pouco relatada. Os autores descrevem a evolução do paciente e discutem a literatura sobre anomalias cromossônicas associadas ao TEA. Conclui-se enfatizando que a avaliação clínica de cada caso de TEA deveria contemplar sempre aspectos neurológicos, psiquiátricos e genéticos.


2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Kohei Kitagawa ◽  
Kensuke Matsumura ◽  
Masayuki Baba ◽  
Momoka Kondo ◽  
Tomoya Takemoto ◽  
...  

AbstractAutism spectrum disorder (ASD) is a highly prevalent neurodevelopmental disorder characterized by core symptoms of impaired social behavior and communication. Recent studies have suggested that the oxytocin system, which regulates social behavior in mammals, is potentially involved in ASD. Mouse models of ASD provide a useful system for understanding the associations between an impaired oxytocin system and social behavior deficits. However, limited studies have shown the involvement of the oxytocin system in the behavioral phenotypes in mouse models of ASD. We have previously demonstrated that a mouse model that carries the ASD patient-derived de novo mutation in the pogo transposable element derived with zinc finger domain (POGZWT/Q1038R mice), showed ASD-like social behavioral deficits. Here, we have explored whether oxytocin (OXT) administration improves impaired social behavior in POGZWT/Q1038R mice and found that intranasal oxytocin administration effectively restored the impaired social behavior in POGZWT/Q1038R mice. We also found that the expression level of the oxytocin receptor gene (OXTR) was low in POGZWT/Q1038R mice. However, we did not detect significant changes in the number of OXT-expressing neurons between the paraventricular nucleus of POGZWT/Q1038R mice and that of WT mice. A chromatin immunoprecipitation assay revealed that POGZ binds to the promoter region of OXTR and is involved in the transcriptional regulation of OXTR. In summary, our study demonstrate that the pathogenic mutation in the POGZ, a high-confidence ASD gene, impairs the oxytocin system and social behavior in mice, providing insights into the development of oxytocin-based therapeutics for ASD.


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