Pubmed du 17/05/21
1. Brighi C, Salaris F, Soloperto A, Cordella F, Ghirga S, de Turris V, Rosito M, Porceddu PF, D’Antoni C, Reggiani A, Rosa A, Di Angelantonio S. Novel fragile X syndrome 2D and 3D brain models based on human isogenic FMRP-KO iPSCs. Cell death & disease. 2021; 12(5): 498.
Fragile X syndrome (FXS) is a neurodevelopmental disorder, characterized by intellectual disability and sensory deficits, caused by epigenetic silencing of the FMR1 gene and subsequent loss of its protein product, fragile X mental retardation protein (FMRP). Delays in synaptic and neuronal development in the cortex have been reported in FXS mouse models; however, the main goal of translating lab research into pharmacological treatments in clinical trials has been so far largely unsuccessful, leaving FXS a still incurable disease. Here, we generated 2D and 3D in vitro human FXS model systems based on isogenic FMR1 knock-out mutant and wild-type human induced pluripotent stem cell (hiPSC) lines. Phenotypical and functional characterization of cortical neurons derived from FMRP-deficient hiPSCs display altered gene expression and impaired differentiation when compared with the healthy counterpart. FXS cortical cultures show an increased number of GFAP positive cells, likely astrocytes, increased spontaneous network activity, and depolarizing GABAergic transmission. Cortical brain organoid models show an increased number of glial cells, and bigger organoid size. Our findings demonstrate that FMRP is required to correctly support neuronal and glial cell proliferation, and to set the correct excitation/inhibition ratio in human brain development.
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2. Sharma A, Mehan S. Targeting PI3K-AKT/mTOR signaling in the prevention of autism. Neurochemistry international. 2021; 147: 105067.
PI3K-AKT/mTOR signaling pathway represents an essential signaling mechanism for mammalian enzyme-related receptors in transducing signals or biological processes such as cell development, differentiation, cell survival, protein synthesis, and metabolism. Upregulation of the PI3K-AKT/mTOR signaling pathway involves many human brain abnormalities, including autism and other neurological dysfunctions. Autism is a neurodevelopmental disorder associated with behavior and psychiatric illness. This research-based review discusses the functional relationship between the neuropathogenic factors associated with PI3K-AKT/mTOR signaling pathway. Ultimately causes autism-like conditions associated with genetic alterations, neuronal apoptosis, mitochondrial dysfunction, and neuroinflammation. Therefore, inhibition of the PI3K-AKT/mTOR signaling pathway may have an effective therapeutic value for autism treatment. The current review also summarizes the involvement of PI3K-AKT/mTOR signaling pathway inhibitors in the treatment of autism and other neurodegenerative disorders.
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3. Sharpley CF, Bitsika V, McMillan ME, Agnew LL. Physiological, psychosocial, and environmental factors in depression among autistic girls. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience. 2021; 81(6): 502-9.
Autism Spectrum Disorder and depression are often co-occurring in young people. However, despite the association between these two disorders, and the fact that females have a higher prevalence of depression than males in the general population, there is little reported evidence regarding the correlates of depression in young autistic females. Several physiological (age, menarche, HPA-axis responses), psychological (social anxiety), and environmental or genetic (mothers’ depression) factors were tested for their contribution to depression severity in a sample of 53 autistic girls aged 6 yr to 17 yr. Depression scores were collected from the girls’ self-ratings and also from the ratings their mothers gave them. Regression results indicated that girls’ social anxiety, age, and mothers’ depression were common significant contributors to both sets of depression scores, but with different effects. Autistic girls’ self-reports of their depression were significantly associated with their HPA-axis responses but not with their menarche status. Implications for research and clinical settings are discussed.
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4. Shaw T, Soto-Garcia M. Chiropractic management of toe-walking in an eight-year-old male diagnosed with autism spectrum disorder utilizing a functional approach: A case study. Journal of bodywork and movement therapies. 2021; 26: 538-41.
OBJECTIVE: The objective of this paper is to discuss the treatment of idiopathic toe-walking utilizing cognitive-motor dual-tasking and primitive reflex integration exercises. METHODS: An eight-year-old child with the previous diagnosis of autism spectrum disorder and idiopathic toe-walking presents for chiropractic care. The patient had previously received eight months of physical therapy in which his results plateaued after three months of care. RESULTS: On the initial visit, the child was evaluated for primitive reflexes. The patient retained the asymmetrical tonic neck reflex and palmer grasp. He was prescribed exercises to integrate these reflexes. In the second visit and onwards, the patient was tasked with walking while performing a cognitive or motor task. The patient’s performance of primitive reflex attenuation exercises significantly improved in form and timing, and the patient achieved proper gait mechanics with most interventions used. CONCLUSION: Due to the limited number of visits, the patient was prescribed a cognitive task to help facilitate the retention of proper gait mechanics; however, these findings suggest that chiropractic management may prove useful in children who toe walk and that further investigation into treatment utilizing primitive reflex integration exercises for children with psychomotor delays is warranted. We suggest that the integration of primitive reflex testing for the chiropractor can yield many answers and serve as a valuable rehabilitation approach.
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5. van der Velde N, Schaap-Jonker H, Eurelings-Bontekoe EHM, Corveleyn JMT. God Representation Types Are Associated With Levels of Personality Organization and Christian Religious Orthodox Culture. The Journal of nervous and mental disease. 2021; 209(10): 710-9.
This exploratory study shows that God representation types are associated with levels of personality organization. Among two Dutch samples of psychiatric patients (n = 136) and nonpatients (n = 161), we found associations between the psychotic, borderline, and neurotic personality organizations, and passive-unemotional, negative-authoritarian, and positive-authoritative God representation types, respectively. Both patients and nonpatients reported positive God representations, but only nonpatients and higher-level functioning patients reported an integrated God-object relation. For persons with personality pathology, the relationship with God can be a struggle and might have a defensive and/or compensating function. In addition to personality organization, Christian religious orthodox culture is a statistical predictor of God representations, but not of anger toward God. We offer suggestions for how psychotherapeutic work with God representations might differ for patients with different levels of personality organization.
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6. Vaquerizo-Serrano J, Salazar de Pablo G, Singh J, Santosh P. Autism Spectrum Disorder and Clinical High Risk for Psychosis: A Systematic Review and Meta-analysis. Journal of autism and developmental disorders. 2022; 52(4): 1568-86.
Psychotic experiences can occur in autism spectrum disorders (ASD). Some of the ASD individuals with these experiences may fulfil Clinical High-Risk for Psychosis (CHR-P) criteria. A systematic literature search was performed to review the information on ASD and CHR-P. A meta-analysis of the proportion of CHR-P in ASD was conducted. The systematic review included 13 studies. The mean age of ASD individuals across the included studies was 11.09 years. The Attenuated Psychosis Syndrome subgroup was the most frequently reported. Four studies were meta-analysed, showing that 11.6% of CHR-P individuals have an ASD diagnosis. Symptoms of prodromal psychosis may be present in individuals with ASD. The transition from CHR-P to psychosis is not affected by ASD.
