Pubmed du 23/08/21
1. Appel JE, Vrijsen JN, Marchetti I, Becker ES, Collard RM, van Eijndhoven P, Schene AH, Tendolkar I. The Role of Perseverative Cognition for Both Mental and Somatic Disorders in a Naturalistic Psychiatric Patient Sample. Psychosomatic medicine. 2021; 83(9): 1058-66.
OBJECTIVE: Perseverative cognition (PC) is the repeated or long-term activation of the cognitive representation of psychological stressors and is associated with prolonged stress including somatic and mental consequences. Hence, PC might represent a cognitive process linking mental and somatic pathology, but current research on this link is limited by investigating healthy samples, markers of somatic disease, and single disorders. The present study explored the importance of PC for different mental and somatic disorders in psychiatric patients. METHODS: Data from 260 naturalistic psychiatric outpatients were used. Psychiatric diagnoses were based on structured clinical interviews. Somatic diseases were assessed using a well-validated questionnaire and were clustered into (cardio)vascular and immune/endocrine diseases. PC was operationalized using the Perseverative Thinking Questionnaire (PTQ). RESULTS: Multiple regression complemented with relative importance analyses showed that the PTQ total and subscale scores were associated with the presence of mood disorders, addiction, and anxiety. Unexpectedly, no relatively important associations were found between the PTQ and autism spectrum disorder, attention-deficit/hyperactivity disorder, or somatic disease. CONCLUSIONS: Our data complement previous work linking PC to stress-related mental disorders but question its immediate role in neurodevelopmental and somatic disorders. Targeting PC in the treatment of mood disorders and perhaps also in addiction seems promising.
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2. Rodgers J, Calvert S, Shoubridge C, McGaughran J. A novel ARX loss of function variant in female monozygotic twins is associated with chorea. European journal of medical genetics. 2021; 64(11): 104315.
Pathogenic variants in ARX lead to a variety of phenotypes with intellectual disability being a uniform feature. Other features can include severe epilepsy, spasticity, movement disorders, agenesis of the corpus callosum, lissencephaly, hydranencephaly and ambiguous genitalia in males. We present the first report of monozygotic female twins with a de novo ARX pathogenic variant (c.1406_1415del; p. Ala469Aspfs*20), predicted to result in a truncated ARX protein missing the important regulatory Aristaless domain. The twins presented with profound developmental delay and seizures, consistent with the known genotype-phenotype correlation. Twin 2’s features were significantly more severe. She also developed chorea; the first time this movement disorder has been seen in an ARX variant other than an expansion of the first polyalanine tract. Differential X-chromosome inactivation was the most likely explanation for the differing severities but could not be conclusively proven.
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3. Saure E, Laasonen M, Raevuori A. Anorexia nervosa and comorbid autism spectrum disorders. Current opinion in psychiatry. 2021; 34(6): 569-75.
PURPOSE OF REVIEW: Traits of autism spectrum disorder (ASD) are overrepresented among individuals with anorexia nervosa (AN) and may also moderate the behavioral manifestation of AN. This review aims to provide an overview of AN and comorbid ASD. RECENT FINDINGS: Elevated ASD traits do not seem to precede AN among some individuals but are rather related to the illness stage. However, studies have suggested that there are ASD-specific mechanisms for developing AN in a subgroup of individuals with AN. Pronounced traits of ASD and diagnosed ASD are associated with illness prolongation and poorer outcomes in AN, and individuals with AN and elevated ASD traits may benefit less from many of the current treatments. Studies do not support a specific genetic relationship between ASD and AN. SUMMARY: Recent research encourages the improved recognition of elevated ASD traits in individuals with AN and provides grounds for developing tailored treatments for those with this comorbidity.
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4. Song DY, Topriceanu CC, Ilie-Ablachim DC, Kinali M, Bisdas S. Machine learning with neuroimaging data to identify autism spectrum disorder: a systematic review and meta-analysis. Neuroradiology. 2021; 63(12): 2057-72.
PURPOSE: Autism Spectrum Disorder (ASD) is diagnosed through observation or interview assessments, which is time-consuming, subjective, and with questionable validity and reliability. Thus, we aimed to evaluate the role of machine learning (ML) with neuroimaging data to provide a reliable classification of ASD. METHODS: A systematic search of PubMed, Scopus, and Embase was conducted to identify relevant publications. Quality Assessment of Diagnostic Accuracy Studies-2 (QUADAS-2) was used to assess the studies’ quality. A bivariate random-effects model meta-analysis was employed to evaluate the pooled sensitivity, the pooled specificity, and the diagnostic performance through the hierarchical summary receiver operating characteristic (HSROC) curve of ML with neuroimaging data in classifying ASD. Meta-regression was also performed. RESULTS: Forty-four studies (5697 ASD and 6013 typically developing individuals [TD] in total) were included in the quantitative analysis. The pooled sensitivity for differentiating ASD from TD individuals was 86.25 95% confidence interval [CI] (81.24, 90.08), while the pooled specificity was 83.31 95% CI (78.12, 87.48) with a combined area under the HSROC (AUC) of 0.889. Higgins I(2) (> 90%) and Cochran’s Q (p < 0.0001) suggest a high degree of heterogeneity. In the bivariate model meta-regression, a higher pooled specificity was observed in studies not using a brain atlas (90.91 95% CI [80.67, 96.00], p = 0.032). In addition, a greater pooled sensitivity was seen in studies recruiting both males and females (89.04 95% CI [83.84, 92.72], p = 0.021), and combining imaging modalities (94.12 95% [85.43, 97.76], p = 0.036). CONCLUSION: ML with neuroimaging data is an exciting prospect in detecting individuals with ASD but further studies are required to improve its reliability for usage in clinical practice.
