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Arquivos de Neuro-psiquiatria Jul 2024Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder with a wide clinical, cognitive, and behavioral expressivity.
BACKGROUND
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder with a wide clinical, cognitive, and behavioral expressivity.
OBJECTIVE
To assess the neuropsychological profile of individuals clinically diagnosed with TSC and the factors that could significantly impact their cognitive development.
METHODS
A total of 62 individuals with ages ranging from 3 to 38 years were followed up in a tertiary attention hospital in Southern Brazil, and they were assessed using a standard battery and the Vineland Adaptive Behavior Scales, when intellectual disability was observed.
RESULTS
History of epilepsy was found in 56 participants (90.3%), and 31 (50%) presented an intellectual disability. Among the other half of TSC individuals without intellectual disability, 8 (12.9%) presented borderline classification, 20 (32.2%) presented average scores, and 3 (4.8%) were above average. In total, 17 participants (27.4%) fulfilled the diagnostic criteria for autism spectrum disorder. The results of the multiple linear regression analysis suggested that seizures, age at diagnosis, visual perception, and general attention significantly impact cognitive performance indexes.
CONCLUSION
The present study suggests that the occurrence of epileptic seizures and older age at diagnosis contribute to higher impairment in the domains of cognitive development, underlining the importance of early diagnosis and the prevention of epileptic seizures or their rapid control. The development of attentional skills, visual perception, and executive functions must be followed up.
Topics: Humans; Tuberous Sclerosis; Male; Female; Child; Neuropsychological Tests; Adolescent; Adult; Young Adult; Brazil; Child, Preschool; Intellectual Disability; Cognition; Epilepsy; Autism Spectrum Disorder; Cohort Studies; Cognition Disorders
PubMed: 38955213
DOI: 10.1055/s-0044-1787797 -
IEEE/ACM Transactions on Computational... Jul 2024Brain functional network (BFN) analysis has become a popular method for identifying neurological diseases at their early stages and revealing sensitive biomarkers...
Brain functional network (BFN) analysis has become a popular method for identifying neurological diseases at their early stages and revealing sensitive biomarkers related to these diseases. Due to the fact that BFN is a graph with complex structure, graph convolutional networks (GCNs) can be naturally used in the identification of BFN, and can generally achieve an encouraging performance if given large amounts of training data. In practice, however, it is very difficult to obtain sufficient brain functional data, especially from subjects with brain disorders. As a result, GCNs usually fail to learn a reliable feature representation from limited BFNs, leading to overfitting issues. In this paper, we propose an improved GCN method to classify brain diseases by introducing a self-supervised learning (SSL) module for assisting the graph feature representation. We conduct experiments to classify subjects with mild cognitive impairment (MCI) and autism spectrum disorder (ASD) respectively from normal controls (NCs). Experimental results on two benchmark databases demonstrate that our proposed scheme tends to obtain higher classification accuracy than the baseline methods.
PubMed: 38954584
DOI: 10.1109/TCBB.2024.3422152 -
ELife Jul 2024Perceiving biological motion (BM) is crucial for human survival and social interaction. Many studies have reported impaired BM perception in autism spectrum disorder,...
Perceiving biological motion (BM) is crucial for human survival and social interaction. Many studies have reported impaired BM perception in autism spectrum disorder, which is characterised by deficits in social interaction. Children with attention deficit hyperactivity disorder (ADHD) often exhibit similar difficulties in social interaction. However, few studies have investigated BM perception in children with ADHD. Here, we compared differences in the ability to process local kinematic and global configurational cues, two fundamental abilities of BM perception, between typically developing and ADHD children. We further investigated the relationship between BM perception and social interaction skills measured using the Social Responsiveness Scale and examined the contributions of latent factors (e.g. sex, age, attention, and intelligence) to BM perception. The results revealed that children with ADHD exhibited atypical BM perception. Local and global BM processing showed distinct features. Local BM processing ability was related to social interaction skills, whereas global BM processing ability significantly improved with age. Critically, general BM perception (i.e. both local and global BM processing) may be affected by sustained attentional ability in children with ADHD. This relationship was primarily mediated by reasoning intelligence. These findings elucidate atypical BM perception in ADHD and the latent factors related to BM perception. Moreover, this study provides new evidence that BM perception is a hallmark of social cognition and advances our understanding of the potential roles of local and global processing in BM perception and social cognitive disorders.
Topics: Humans; Attention Deficit Disorder with Hyperactivity; Child; Male; Female; Motion Perception; Social Interaction; Adolescent; Attention
PubMed: 38954462
DOI: 10.7554/eLife.90313 -
Journal of Autism and Developmental... Jul 2024
PubMed: 38954363
DOI: 10.1007/s10803-024-06450-y -
Journal of Autism and Developmental... Jul 2024Puberty a period of transition from childhood to adulthood, poses problems that are difficult to manage for typically developing adolescents, but even more difficult for...
PURPOSE
Puberty a period of transition from childhood to adulthood, poses problems that are difficult to manage for typically developing adolescents, but even more difficult for adolescents with autism. It is vital that girls with autism spectrum disorder (ASD), like their typically developing peers, are able to manage these physiological processes in a healthy way and learn self-care and hygiene behaviours without being dependent on others. Given the contribution of mothers to the menstrual hygiene and self-care skills of adolescent girls, this study aims to explore the views of mothers.
METHODS
The study is a case study designed in the qualitative research model. The research was carried out with the participation of 10 mothers met the necessary criteria and agreed to take part in the study voluntarily. The data obtained were subjected to descriptive and thematic analysis. Codes, sub-themes and main themes were created.
RESULTS
The research identifies the themes of self-care and menstrual hygiene, preparations made during menstruation, behavioral problems in adolescents, the person who carries out hygiene and self-care, and situations that tire/strain mothers during menstruation.
CONCLUSION
At the end of the research, it was concluded that the adolescent girls with ASD are mostly unable to perform their self-care and hygiene adequately, and that the mothers do nothing to prepare their daughters for adolescence. It was also concluded that the most stressful situation for mothers during adolescence is usually the difficulty their daughters have in using sanitary pads, cleaning armpits and genital hair, and bathing.
PubMed: 38954362
DOI: 10.1007/s10803-024-06446-8 -
Journal of Autism and Developmental... Jul 2024Children with autism from underserved communities face complex system-, provider-, and family-level barriers to accessing timely diagnosis and early intervention. The...
Children with autism from underserved communities face complex system-, provider-, and family-level barriers to accessing timely diagnosis and early intervention. The current study evaluated the preliminary effects and feasibility of a new program (ECHO Autism LINKS) that integrated pediatric primary care provider (PCP) training with family navigation (FN) to bridge the gaps between screening, referral, and service access. Three cohorts of PCPs (n = 42) participated in the program, which consisted of 60-minute sessions delivered by Zoom twice per month for 12 months. Each session included didactics, case-based learning, and collaborative discussion with participants and an interdisciplinary team of experts. Family navigators were members of the expert team and provided FN services to families referred by PCP participants. Program attendance and engagement were strong, with 40 cases presented and 258 families referred for FN services, most of whom (83%) needed help accessing and connecting with services, and 13% required ongoing support due to complex needs. PCPs demonstrated significant improvements in self-efficacy in providing best-practice care for children with autism, reported high satisfaction, and observed improved knowledge and practice as a result of the program. The results of this initial pilot provide support for the feasibility, acceptability, and preliminary efficacy of the ECHO Autism LINKS program. The model holds promise in addressing complex barriers to healthcare access by providing both PCPs and families with the knowledge and support they need. Future research is needed to evaluate the efficacy and effectiveness of the program in improving child and family outcomes.
PubMed: 38954361
DOI: 10.1007/s10803-024-06445-9 -
Pediatric Surgery International Jul 2024To present the functional results after a transanal proximal rectosigmoidectomy in patients with severe idiopathic constipation in which medical treatment has failed.
PURPOSE
To present the functional results after a transanal proximal rectosigmoidectomy in patients with severe idiopathic constipation in which medical treatment has failed.
METHODS
Patients with severe idiopathic constipation who underwent transanal proximal rectosigmoidectomy (TPRS) at Children's Hospital Colorado between June 2019 and March 2024 were included in the study. We compared multiple pre- and post-operative outcome measures and the patient's bowel regimen before and after resection.
RESULTS
Fourteen patients underwent TPRS, 10 of whom were male. The average age at the time of surgery was 10.1 years (range 5-19). Seven patients have moderate to severe autism. Constipation-related clinic visits, family calls, procedural intervention, emergency room visits, and hospitalizations notably decreased frequency after TPRS. Laxative dosages and enema volume requirements were also reduced after surgery. Before surgery, all the patients suffered from daily fecal accidents, while post-operatively, all were completely free of stool accidents.
CONCLUSION
In our experience, for patients who suffer from severe medically refractory idiopathic constipation, TPRS has provided improvement in their symptoms and decreased the complications inherent to this chronic disease. Parents and patients attest to a profound positive transformation in their quality of life after surgery.
Topics: Humans; Constipation; Male; Female; Child; Adolescent; Child, Preschool; Rectum; Colon, Sigmoid; Young Adult; Treatment Outcome; Retrospective Studies; Quality of Life
PubMed: 38954056
DOI: 10.1007/s00383-024-05764-3 -
Autism Research : Official Journal of... Jul 2024This study examined the association between prenatal cannabis exposure and autism spectrum disorder (ASD) diagnoses and traits. A total sample of 11,570 children (ages...
Examining the association between prenatal cannabis exposure and child autism traits: A multi-cohort investigation in the environmental influences on child health outcome program.
This study examined the association between prenatal cannabis exposure and autism spectrum disorder (ASD) diagnoses and traits. A total sample of 11,570 children (ages 1-18; 53% male; 25% Hispanic; 60% White) from 34 cohorts of the National Institutes of Health-funded environmental influences on child health outcomes consortium were included in analyses. Results from generalized linear mixed models replicated previous studies showing that associations between prenatal cannabis exposure and ASD traits in children are not significant when controlling for relevant covariates, particularly tobacco exposure. Child biological sex did not moderate the association between prenatal cannabis exposure and ASD. In a large sample and measuring ASD traits continuously, there was no evidence that prenatal cannabis exposure increases the risk for ASD. This work helps to clarify previous mixed findings by addressing concerns about statistical power and ASD measurement.
PubMed: 38953698
DOI: 10.1002/aur.3185 -
International Journal of Developmental... Jul 2024Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a diverse profile of cognitive functions. Heterogeneity is observed among both baseline and comorbid... (Review)
Review
OBJECTIVES
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a diverse profile of cognitive functions. Heterogeneity is observed among both baseline and comorbid features concerning the diversity of neuropathology in autism. Symptoms vary depending on the developmental stage, level of severity, or comorbidity with other medical or psychiatric diagnoses such as intellectual disability, epilepsy, and anxiety disorders.
METHOD
The neurodiversity movement does not face variations in neurological and cognitive development in ASD as deficits but as normal non-pathological human variations. Thus, ASD is not identified as a neurocognitive pathological disorder that deviates from the typical, but as a neuro-individuality, a normal manifestation of a neurobiological variation within the population.
RESULTS
In this light, neurodiversity is described as equivalent to any other human variation, such as ethnicity, gender, or sexual orientation. This review will provide insights about the neurodiversity approach in children and adults with ASD. Using a neurodiversity approach can be helpful when working with children who have autism spectrum disorder (ASD).
DISCUSSION
This method acknowledges and values the various ways that people with ASD interact with one another and experience the world in order to embrace the neurodiversity approach when working with children with ASD.
PubMed: 38953464
DOI: 10.1002/jdn.10356 -
ELife Jul 2024The enhancement of associative synaptic plasticity often results in impaired rather than enhanced learning. Previously, we proposed that such learning impairments can...
The enhancement of associative synaptic plasticity often results in impaired rather than enhanced learning. Previously, we proposed that such learning impairments can result from saturation of the plasticity mechanism (Nguyen-Vu et al., 2017), or, more generally, from a history-dependent change in the threshold for plasticity. This hypothesis was based on experimental results from mice lacking two class I major histocompatibility molecules, MHCI H2-K and H2-D (MHCI KD), which have enhanced associative long-term depression at the parallel fiber-Purkinje cell synapses in the cerebellum (PF-Purkinje cell LTD). Here, we extend this work by testing predictions of the threshold metaplasticity hypothesis in a second mouse line with enhanced PF-Purkinje cell LTD, the knockout mouse model of Fragile X syndrome (FXS). Mice lacking gene expression in cerebellar Purkinje cells (L7- KO) were selectively impaired on two oculomotor learning tasks in which PF-Purkinje cell LTD has been implicated, with no impairment on LTD-independent oculomotor learning tasks. Consistent with the threshold metaplasticity hypothesis, behavioral pre-training designed to reverse LTD at the PF-Purkinje cell synapses eliminated the oculomotor learning deficit in the L7- KO mice, as previously reported in MHCI KDmice. In addition, diazepam treatment to suppress neural activity and thereby limit the induction of associative LTD during the pre-training period also eliminated the learning deficits in L7- KO mice. These results support the hypothesis that cerebellar LTD-dependent learning is governed by an experience-dependent sliding threshold for plasticity. An increased threshold for LTD in response to elevated neural activity would tend to oppose firing rate stability, but could serve to stabilize synaptic weights and recently acquired memories. The metaplasticity perspective could inform the development of new clinical approaches for addressing learning impairments in autism and other disorders of the nervous system.
Topics: Animals; Fragile X Syndrome; Mice; Disease Models, Animal; Fragile X Mental Retardation Protein; Mice, Knockout; Purkinje Cells; Neuronal Plasticity; Male; Learning
PubMed: 38953282
DOI: 10.7554/eLife.92543