keyword
https://read.qxmd.com/read/38728609/management-of-autoimmune-encephalitis-in-a-7-year-old-child-with-ctla-4-haploinsufficiency-and-ampa-receptor-antibodies-a-case-report
#1
JOURNAL ARTICLE
Marjolijn S W Quaak, Michiel S J S Buijze, Virginie J M Verhoeven, Clementien Vermont, Emmeline P Buddingh, Maud Heredia, Janneke N Samsom, Maarten J Titulaer, Annemarie M van Rossum, Sylvia Kamphuis, Rinze F Neuteboom
OBJECTIVES: We report on the therapeutic management of early-onset severe neurologic symptoms in cytotoxic T lymphocyte antigen-4 haploinsufficiency (CTLA-4h) and the presence of antibodies to the α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR) as an important finding. METHODS: This is a case report from a Dutch academic hospital. Repeated clinical examinations, repeated brain MRI and extended diagnostics on serum and CSF were performed...
July 2024: Neurology® Neuroimmunology & Neuroinflammation
https://read.qxmd.com/read/38727047/the-lived-experience-of-mental-disorders-in-adolescents-a-bottom-up-review-co-designed-co-conducted-and-co-written-by-experts-by-experience-and-academics
#2
JOURNAL ARTICLE
Paolo Fusar-Poli, Andrés Estradé, Cecilia M Esposito, René Rosfort, Ilaria Basadonne, Milena Mancini, Giovanni Stanghellini, Jummy Otaiku, Oluwadamilola Olanrele, Lucas Allen, Muskan Lamba, Catherine Alaso, Judy Ieri, Margret Atieno, Yvonne Oluoch, Phides Ireri, Ephraim Tembo, Innocent Z Phiri, Duncan Nkhoma, Noah Sichone, Candy Siadibbi, Pharidah R I O Sundi, Nyathi Ntokozo, Laura Fusar-Poli, Valentina Floris, Martina M Mensi, Renato Borgatti, Stefano Damiani, Umberto Provenzani, Natascia Brondino, Ilaria Bonoldi, Joaquim Radua, Kate Cooper, Jae Il Shin, Samuele Cortese, Andrea Danese, Sarah Bendall, Celso Arango, Christoph U Correll, Mario Maj
We provide here the first bottom-up review of the lived experience of mental disorders in adolescents co-designed, co-conducted and co-written by experts by experience and academics. We screened first-person accounts within and outside the medical field, and discussed them in collaborative workshops involving numerous experts by experience - representing different genders, ethnic and cultural backgrounds, and continents - and their family members and carers. Subsequently, the material was enriched by phenomenologically informed perspectives and shared with all collaborators...
June 2024: World Psychiatry: Official Journal of the World Psychiatric Association (WPA)
https://read.qxmd.com/read/38726381/neuroplasticity-of-children-in-autism-spectrum-disorder
#3
REVIEW
Zilin Chen, Xu Wang, Si Zhang, Fei Han
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that encompasses a range of symptoms including difficulties in verbal communication, social interaction, limited interests, and repetitive behaviors. Neuroplasticity refers to the structural and functional changes that occur in the nervous system to adapt and respond to changes in the external environment. In simpler terms, it is the brain's ability to learn and adapt to new environments. However, individuals with ASD exhibit abnormal neuroplasticity, which impacts information processing, sensory processing, and social cognition, leading to the manifestation of corresponding symptoms...
2024: Frontiers in Psychiatry
https://read.qxmd.com/read/38726016/unraveling-the-immunogenetic-landscape-of-autism-spectrum-disorder-a-comprehensive-bioinformatics-approach
#4
JOURNAL ARTICLE
Jieying Ma, Deyang Liu, Jianzhong Zhao, Xiaolu Fang, Dengyin Bu
BACKGROUND: Autism spectrum disorder (ASD) is a disease characterized by social disorder. Recently, the population affected by ASD has gradually increased around the world. There are great difficulties in diagnosis and treatment at present. METHODS: The ASD datasets were obtained from the Gene Expression Omnibus database and the immune-relevant genes were downloaded from a previously published compilation. Subsequently, we used WGCNA to screen the modules related to the ASD and immune...
2024: Frontiers in Immunology
https://read.qxmd.com/read/38725311/telehealth-delivered-parent-based-sleep-focused-intervention-for-insomnia-in-preschool-children-with-autism-spectrum-disorder-a-randomized-controlled-study
#5
JOURNAL ARTICLE
Brian Yee Ting Ip, So-Lun Lee, Shirley Xin Li
Sleep problems are common in children with autism spectrum disorder. Although the effects of parent-based sleep intervention were shown to be promising, previous research was limited to the face-to-face service model, which might limit accessibility. This study examined a sleep-focused parent training group delivered via telehealth for treating insomnia in preschool children with autism spectrum disorder, which allowed parents to join the intervention remotely. Results showed that children in the intervention group had greater improvements in sleep and insomnia symptoms after treatment, as compared to those who only received care as usual...
May 9, 2024: Autism: the International Journal of Research and Practice
https://read.qxmd.com/read/38723008/modulatory-effects-of-rutin-and-vitamin-a-on-hyperglycemia-induced-glycation-oxidative-stress-and-inflammation-in-high-fat-fructose-diet-animal-model
#6
JOURNAL ARTICLE
Aqsa Iqbal, Sairah Hafeez Kamran, Farhan Siddique, Saiqa Ishtiaq, Misbah Hameed, Mobina Manzoor
In the current study we investigated the impact of combination of rutin and vitamin A on glycated products, the glyoxalase system, oxidative markers, and inflammation in animals fed a high-fat high-fructose (HFFD) diet. Thirty rats were randomly divided into six groups (n = 5). The treatments, metformin (120 mg/kg), rutin (100 mg/kg), vitamin A (43 IU/kg), and a combination of rutin (100 mg/kg) and vitamin A (43 IU/kg) were given to relevant groups of rats along with high-fructose high-fat diet for 42 days...
2024: PloS One
https://read.qxmd.com/read/38721665/choline-chloride-shows-gender-dependent-positive-effects-on-social-deficits-learning-memory-impairments-neuronal-loss-and-neuroinflammation-in-the-lipopolysaccharide-induced-rat-model-of-autism
#7
JOURNAL ARTICLE
Cansu Bilister Egilmez, Burcu Azak Pazarlar, Mumin Alper Erdogan, Yiğit Uyanikgil, Oytun Erbas
The neuroprotective effects of choline chloride, an essential nutrient, a precursor for the acetylcholine and synthesis of membrane phospholipids, have been associated with neurological and neurodegenerative diseases. Its contribution to autism spectrum disorder, a neurodevelopmental disorder, remains unknown. Thus, we aimed to evaluate the effects of choline chloride on social behaviours, and histopathological and biochemical changes in a rat autism model. The autism model was induced by administration of 100 μg/kg lipopolysaccharide (LPS) on the 10th day of gestation...
May 9, 2024: International Journal of Developmental Neuroscience
https://read.qxmd.com/read/38718880/dimensional-neuroimaging-endophenotypes-neurobiological-representations-of-disease-heterogeneity-through-machine-learning
#8
REVIEW
Junhao Wen, Mathilde Antoniades, Zhijian Yang, Gyujoon Hwang, Ioanna Skampardoni, Rongguang Wang, Christos Davatzikos
Machine learning has been increasingly used to obtain individualized neuroimaging signatures for disease diagnosis, prognosis, and response to treatment in neuropsychiatric and neurodegenerative disorders. Therefore, it has contributed to a better understanding of disease heterogeneity by identifying disease subtypes with different brain phenotypic measures. In this Review, we first present a systematic literature overview of studies using machine learning and multimodal MRI to unravel disease heterogeneity in various neuropsychiatric and neurodegenerative disorders, including Alzheimer's disease, schizophrenia, major depressive disorder, autism spectrum disorder, multiple sclerosis, as well as their potential in a transdiagnostic framework, where neuroanatomical and neurobiological commonalities were assessed across diagnostic boundaries...
May 6, 2024: Biological Psychiatry
https://read.qxmd.com/read/38718086/loss-of-katnal2-leads-to-ependymal-ciliary-hyperfunction-and-autism-related-phenotypes-in-mice
#9
JOURNAL ARTICLE
Ryeonghwa Kang, Kyungdeok Kim, Yewon Jung, Sang-Han Choi, Chanhee Lee, Geun Ho Im, Miram Shin, Kwangmin Ryu, Subin Choi, Esther Yang, Wangyong Shin, Seungjoon Lee, Suho Lee, Zachary Papadopoulos, Ji Hoon Ahn, Gou-Young Koh, Jonathan Kipnis, Hyojin Kang, Hyun Kim, Won-Ki Cho, Soochul Park, Seong-Gi Kim, Eunjoon Kim
Autism spectrum disorders (ASD) frequently accompany macrocephaly, which often involves hydrocephalic enlargement of brain ventricles. Katnal2 is a microtubule-regulatory protein strongly linked to ASD, but it remains unclear whether Katnal2 knockout (KO) in mice leads to microtubule- and ASD-related molecular, synaptic, brain, and behavioral phenotypes. We found that Katnal2-KO mice display ASD-like social communication deficits and age-dependent progressive ventricular enlargements. The latter involves increased length and beating frequency of motile cilia on ependymal cells lining ventricles...
May 8, 2024: PLoS Biology
https://read.qxmd.com/read/38717133/assessment-of-dental-and-periodontal-indices-and-streptococcus-mutans-virulence-in-fragile-x-syndrome-patients
#10
JOURNAL ARTICLE
Cristhiane Olivia Ferreira do Amaral, Kamila Rosamilia Kantovitiz, V C de Araújo, T Marega, L N Teixeira, E F Martinez
INTRODUCTION: Fragile X syndrome (FXS) is the most common cause of hereditary genetic disorder in a single gene characterised by intellectual disability. Behavioural features such as autism, hyperactivity and anxiety disorder may be present. Biofilm development and pathogenicity of Streptococcus mutans may be altered because FXS renders the dental approach and oral hygiene more complex. OBJECTIVES: The purpose of this study was to compare the levels of transcripts for VicRK and CovR of S...
May 8, 2024: Journal of Intellectual Disability Research: JIDR
https://read.qxmd.com/read/38716113/insights-into-the-structure-and-function-of-the-hippocampus-implications-for-the-pathophysiology-and-treatment-of-autism-spectrum-disorder
#11
REVIEW
Junzi Long, Hui Li, Ying Liu, Xingxing Liao, Zhiqing Tang, Kaiyue Han, Jiarou Chen, Hao Zhang
The hippocampus is one of the brain areas affected by autism spectrum disorder (ASD). Individuals with ASD typically have impairments in hippocampus-dependent learning, memory, language ability, emotional regulation, and cognitive map creation. However, the pathological changes in the hippocampus that result in these cognitive deficits in ASD are not yet fully understood. In the present review, we will first summarize the hippocampal involvement in individuals with ASD. We will then provide an overview of hippocampal structural and functional abnormalities in genetic, environment-induced, and idiopathic animal models of ASD...
2024: Frontiers in Psychiatry
https://read.qxmd.com/read/38715916/improvements-in-gut-microbiome-composition-and-clinical-symptoms-following-familial-fecal-microbiota-transplantation-in-a-nineteen-year-old-adolescent-with-severe-autism
#12
Sabine Hazan, Jonathan Haroon, Sheldon Jordan, Stephen J Walker
This case report describes a novel therapy for patients with severe autism spectrum disorder (ASD) that is worth further investigation. A 19-year-old male adolescent with ASD, who was not responding to standard treatment received fecal microbiota transplant (FMT) using donor material from his typically developing female sibling. The patient's ASD symptoms were assessed by assessors who were blind to the patient's past ASD symptomatology. Assessors used the Childhood Autism Rating Scale (CARS), an observation-based rating scale to assess developmental delay in children with autism (range of CARS scores is 15 - 60; a score > 28 is indicative of autism; higher score is positively correlated with degree of severity), at baseline and again at six timepoints post-FMT...
May 2024: Journal of Medical Cases
https://read.qxmd.com/read/38712729/social-communication-and-restricted-repetitive-behavior-as-assessed-with-a-diagnostic-tool-for-autism-ados-2-in-women-with-anorexia-nervosa
#13
JOURNAL ARTICLE
Emma Saure, Marja Laasonen, Anneli Kylliäinen, Sini Hämäläinen, Tuulia Lepistö-Paisley, Anu Raevuori
OBJECTIVE: In anorexia nervosa (AN), the traits of autism spectrum disorder (ASD) are associated with poor outcomes. However, the subtle nature of these characteristics remains poorly understood. We investigated the in-depth patterns of ASD traits using Autism Diagnostic Observation Schedule-Second Edition (ADOS-2) in women with AN. METHODS: Of 28 women with ICD-10 AN, 16 (age 19-30 years) participated in the ADOS-2, a video-recorded, semistructured diagnostic assessment for social communication and interaction and restricted, repetitive behaviors and interests related to ASD...
May 7, 2024: Journal of Clinical Psychology
https://read.qxmd.com/read/38712612/neonatal-immune-stimulation-results-in-sex-specific-changes-in-ultrasonic-vocalizations-but-does-not-affect-seizure-susceptibility-in-neonatal-mice
#14
JOURNAL ARTICLE
Danielle Santana-Coelho, Zachary J Pranske, Suzanne O Nolan, Samantha L Hodges, Matthew S Binder, Paige D Womble, David A Narvaiz, Ilyasah Muhammad, Joaquin N Lugo
Neuroinflammation during the neonatal period has been linked to disorders such as autism and epilepsy. In this study, we investigated the early life behavioral consequences of a single injection of lipopolysaccharide (LPS) at postnatal day 10 (PD10) in mice. To assess deficits in communication, we performed the isolation-induced ultrasonic vocalizations (USVs) test at PD12. To determine if early life immune stimulus could alter seizure susceptibility, latency to flurothyl-induced generalized seizures was measured at 4 hours (hrs), 2 days, or 5 days after LPS injections...
May 7, 2024: International Journal of Developmental Neuroscience
https://read.qxmd.com/read/38710511/loss-of-fmrp-affects-ovarian-development-and-behaviour-through-multiple-pathways-in-a-zebrafish-model-of-fragile-x-syndrome
#15
JOURNAL ARTICLE
Rita Rani, N Sushma Sri, Raghavender Medishetti, Kiranam Chatti, Aarti Sevilimedu
Fragile X syndrome (FXS) is an inherited neurodevelopmental disorder and the leading genetic cause of autism spectrum disorders. FXS is caused by loss of function mutations in Fragile X mental retardation protein (FMRP), an RNA binding protein that is known to regulate translation of its target mRNAs, predominantly in the brain and gonads. The molecular mechanisms connecting FMRP function to neurodevelopmental phenotypes are well understood. However, neither the full extent of reproductive phenotypes, nor the underlying molecular mechanisms have been as yet determined...
May 6, 2024: Human Molecular Genetics
https://read.qxmd.com/read/38705555/the-neuroprotective-effect-of-diosgenin-in-the-rat-valproic-acid-model-of-autism
#16
JOURNAL ARTICLE
Mohammad Reza Naghdi, Reza Ahadi, Ali Motamed Nezhad, Faeze Sadat Ahmadi Tabatabaei, Mansoureh Soleimani, Razieh Hajisoltani
BACKGROUND AND AIM: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with two core behavioral symptoms restricted/repetitive behavior and social-communication deficit. The unknown etiology of ASD makes it difficult to identify potential treatments. Valproic acid (VPA) is an anticonvulsant drug with teratogenic effects during pregnancy in humans and rodents. Prenatal exposure to VPA induces autism-like behavior in both humans and rodents. This study aimed to investigate the protective effects of Diosgenin in prenatal Valproic acid-induced autism in rats...
May 3, 2024: Brain Research
https://read.qxmd.com/read/38703861/biomarkers-of-mitochondrial-dysfunction-in-autism-spectrum-disorder-a-systematic-review-and-meta-analysis
#17
REVIEW
Richard E Frye, Nicole Rincon, Patrick J McCarty, Danielle Brister, Adrienne C Scheck, Daniel A Rossignol
Autism spectrum disorder (ASD) is a neurodevelopmental disorder affecting 1 in 36 children and is associated with physiological abnormalities, most notably mitochondrial dysfunction, at least in a subset of individuals. This systematic review and meta-analysis discovered 204 relevant articles which evaluated biomarkers of mitochondrial dysfunction in ASD individuals. Significant elevations (all p < 0.01) in the prevalence of lactate (17%), pyruvate (41%), alanine (15%) and creatine kinase (9%) were found in ASD...
May 2, 2024: Neurobiology of Disease
https://read.qxmd.com/read/38700780/parenting-stress-in-autistic-and-adhd-children-implications-of-social-support-and-child-characteristics
#18
JOURNAL ARTICLE
Ana Pardo-Salamanca, Eva Rosa-Martínez, Soledad Gómez, Cristina Santamarina-Siurana, Carmen Berenguer
High levels of parenting stress have been detected in mothers of children with Autism (ASD) and children with attention deficit hyperactivity disorder (ADHD) comparing with mothers of typically developing (TD) children. The current study explored the implications of social support (confidant and affective support) and child characteristics (emotional, behavioral and sleep problems) on parenting stress in ASD and ADHD. Furthermore, the differences between mothers of children with autism, ADHD and TD on the studied variables were examined...
May 3, 2024: Journal of Autism and Developmental Disorders
https://read.qxmd.com/read/38700147/a-case-of-pitt-hopkins-syndrome-psychopharmacological-approach-for-anxiety-insomnia-and-agitation
#19
JOURNAL ARTICLE
Cemre Istanbullu, Binay Kayan Ocakoglu, Gul Karacetin
Pitt-Hopkins syndrome (PTHS) is a rare genetic disorder resulting from TCF4 gene mutations which is characterized by dysmorphic facial features, psychomotor delay, intellectual disability, breathing anomalies, and seizures. Psychiatric conditions are occasionally seen. We present the case report of a seven-year-old PTHS patient with anxiety, insomnia, and agitation. We discuss the psychopharmacological intervention options for this patient. The present case study reports on a 7-year-old female with PTHS, autism spectrum disorder (ASD), and intellectual disability...
May 3, 2024: Neurocase
https://read.qxmd.com/read/38699519/exploring-the-epigenetic-landscape-the-role-of-5-hydroxymethylcytosine-in-neurodevelopmental-disorders
#20
REVIEW
Mohamed Adil Shah Khoodoruth, Widaad Nuzhah Chut-Kai Khoodoruth, Rafaa Al Alwani
Recent advances in genetic and epigenetic research have underscored the significance of 5-hydroxymethylcytosine (5hmC) in neurodevelopmental disorders (NDDs), such as autism spectrum disorder (ASD) and intellectual disability (ID), revealing its potential as both a biomarker for early detection and a target for novel therapeutic strategies. This review article provides a comprehensive analysis of the role of 5hmC in NDDs by examining both animal models and human studies. By examining mouse models, studies have demonstrated that prenatal environmental challenges, such as maternal infection and food allergies, lead to significant epigenetic alterations in 5hmC levels, which were associated with NDDs in offspring, impacting social behavior, cognitive abilities and increasing ASD-like symptoms...
2024: Camb Prism Precis Med
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