Autism - A Comprehensive Array of Prominent Signs and Symptoms

2021 ◽  
Vol 27 ◽  
Author(s):  
Muhammad Shahid Nadeem ◽  
Bibi Nazia Murtaza ◽  
Mariam A. Al-Ghamdi ◽  
Akbar Ali ◽  
Mazin A. Zamzami ◽  
...  
Keyword(s):  
Clinical Symptoms ◽  
Present Report ◽  
Critical Role ◽  
Signs And Symptoms ◽  
Autism Spectrum ◽  
Psychological Therapies ◽  
Gastrointestinal Problems ◽  
Wide Range ◽  
Poor Cognitive Function ◽  
High Level

Background: Autism Spectrum Disorder (ASD) is a multifaceted neurodevelopmental condition characterized by multiple psychological and physiological impairments in young children. According to the recent reports 1 out of every 58 newly born children is suffering from autism. The aetiology of disorder is complex and poorly understood, hindering the adaptation of targeted and effective therapies. There are no well-established diagnostic biomarkers for autism, hence the analysis of symptoms by the pediatricians play a critical role in the early intervention. Methods: In the present report we have emphasized on 24 behavioral, psychological and clinical symptoms of autism. Results: Impaired social interaction, restrictive and narrow interests, anxiety, depression; aggressive, repetitive, rigid and self-injurious behavior, lack of consistency, short attention span, fear, shyness and phobias, hypersensitivity and rapid mood alterations, high level of food and toy selectivity; inability to establish friendships or follow the instructions; fascination by round spinning objects and eating non-food materials are common psychological characteristics of autism. Speech or hearing impairments, poor cognitive function, gastrointestinal problems, weak immunity, disturbed sleep and circadian rhythms, weak motor neuromuscular interaction, lower level of serotonin and neurotransmitters, headache and body pain include common physiological symptoms. Conclusion: A variable qualitative and quantitative impact of these wide range of symptoms is perceived in each autistic individual making him/her distinct, incomparable and exceptional. Selection and application of highly personalized medical and psychological therapies are therefore recommended for the management and treatment of autism.

scholarly journals A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients With Neurobehavioral Assessments

2020 ◽  
Author(s):  
Dejan B Budimirovic ◽  
Annette Schlageter ◽  
Stela Sadic-Filipovic ◽  
Dragana Protic ◽  
Eran Bram ◽  
...  
Keyword(s):  
Cell Lines ◽  
Fragile X ◽  
Genetic Disorder ◽  
Critical Role ◽  
Autism Spectrum ◽  
Total N ◽  
Cgg Repeat ◽  
High Prevalence ◽  
Repeat Expansions ◽  
High Level

Abstract Background. Fragile X syndrome (FXS) is caused by silencing of the FMR1 gene, which encodes a protein with a critical role in synaptic plasticity. The molecular abnormality underlying FMR1 silencing, CGG repeat expansion, is well characterized; however, delineation of the pathway from DNA to RNA to protein using biosamples from well characterized patients with FXS is limited. Since FXS is a common and prototypical genetic disorder associated with intellectual disability (ID) and autism spectrum disorder (ASD), a comprehensive assessment of the FMR1 DNA-RNA-protein pathway and its correlations with the neurobehavioral phenotype is a priority.Methods. We applied nine sensitive and quantitative assays evaluating FMR1 DNA, RNA, and FMRP parameters to a reference set of cell lines representing the range of FMR1 expansions. We then used the most informative of these assays on blood and buccal specimens from cohorts of patients with different FMR1 expansions, with emphasis on those with FXS (N = 42 total, N = 31 with FMRP measurements). The group with FMRP data was also evaluated comprehensively in terms of its neurobehavioral profile, which allowed molecular-neurobehavioral correlations. Results. FMR1 CGG repeat expansions, methylation levels, and FMRP levels, in both cell lines and blood samples, were consistent with previous FMR1 genomic and protein studies. They also demonstrated a high level of agreement between blood and buccal specimens. These assays further corroborated previous reports of the relatively high prevalence of methylation mosaicism. Molecular-neurobehavioral correlations confirmed the inverse relationship between overall severity of the FXS phenotype and decrease in FMRP levels. Other intriguing findings included a potential relationship between diagnosis of FXS with ASD and very low levels of FMRP, compared to FXS without ASD. Conclusions. The results underscore the link between FMR1 expansion, gene methylation, and FMRP deficit. The association between FMRP deficiency and overall severity of the neurobehavioral phenotype invites follow up studies in larger patient cohorts. They would be valuable to confirm and potentially extend our initial findings of a relationship between ASD and other neurobehavioral features and the magnitude of FMRP deficit. Molecular profiling of individuals with FXS may have important implications in research and clinical practice.

scholarly journals A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments

2020 ◽  
Vol 10 (10) ◽  
pp. 694 ◽  
Author(s):  
Dejan B. Budimirovic ◽  
Annette Schlageter ◽  
Stela Filipovic-Sadic ◽  
Dragana D. Protic ◽  
Eran Bram ◽  
...  
Keyword(s):  
Cell Lines ◽  
Genomic Dna ◽  
Fragile X ◽  
Genetic Disorder ◽  
Critical Role ◽  
Autism Spectrum ◽  
Total N ◽  
Cgg Repeat ◽  
Repeat Expansions ◽  
High Level

Fragile X syndrome (FXS) is caused by silencing of the FMR1 gene, which encodes a protein with a critical role in synaptic plasticity. The molecular abnormality underlying FMR1 silencing, CGG repeat expansion, is well characterized; however, delineation of the pathway from DNA to RNA to protein using biosamples from well characterized patients with FXS is limited. Since FXS is a common and prototypical genetic disorder associated with intellectual disability (ID) and autism spectrum disorder (ASD), a comprehensive assessment of the FMR1 DNA-RNA-protein pathway and its correlations with the neurobehavioral phenotype is a priority. We applied nine sensitive and quantitative assays evaluating FMR1 DNA, RNA, and FMRP parameters to a reference set of cell lines representing the range of FMR1 expansions. We then used the most informative of these assays on blood and buccal specimens from cohorts of patients with different FMR1 expansions, with emphasis on those with FXS (N = 42 total, N = 31 with FMRP measurements). The group with FMRP data was also evaluated comprehensively in terms of its neurobehavioral profile, which allowed molecular–neurobehavioral correlations. FMR1 CGG repeat expansions, methylation levels, and FMRP levels, in both cell lines and blood samples, were consistent with findings of previous FMR1 genomic and protein studies. They also demonstrated a high level of agreement between blood and buccal specimens. These assays further corroborated previous reports of the relatively high prevalence of methylation mosaicism (slightly over 50% of the samples). Molecular-neurobehavioral correlations confirmed the inverse relationship between overall severity of the FXS phenotype and decrease in FMRP levels (N = 26 males, mean 4.2 ± 3.3 pg FMRP/ng genomic DNA). Other intriguing findings included a significant relationship between the diagnosis of FXS with ASD and two-fold lower levels of FMRP (mean 2.8 ± 1.3 pg FMRP/ng genomic DNA, p = 0.04), in particular observed in younger age- and IQ-adjusted males (mean age 6.9 ± 0.9 years with mean 3.2 ± 1.2 pg FMRP/ng genomic DNA, 57% with severe ASD), compared to FXS without ASD. Those with severe ID had even lower FMRP levels independent of ASD status in the male-only subset. The results underscore the link between FMR1 expansion, gene methylation, and FMRP deficit. The association between FMRP deficiency and overall severity of the neurobehavioral phenotype invites follow up studies in larger patient cohorts. They would be valuable to confirm and potentially extend our initial findings of the relationship between ASD and other neurobehavioral features and the magnitude of FMRP deficit. Molecular profiling of individuals with FXS may have important implications in research and clinical practice.

scholarly journals Deficiency of LRRC4 Accelerates Experimental Autoimmune Encephalomyelitis by Disrupting Th1/Treg Cell Balance

2019 ◽  
Author(s):  
Yan Zhang ◽  
Di Li ◽  
Qiuming Zeng ◽  
Jianbo Feng ◽  
Haijuan Fu ◽  
...  
Keyword(s):  
Experimental Autoimmune Encephalomyelitis ◽  
Clinical Symptoms ◽  
Critical Role ◽  
Ectopic Expression ◽  
Treg Cells ◽  
Autism Spectrum ◽  
Th1 Cells ◽  
Autoimmune Encephalomyelitis ◽  
Experimental Autoimmune

Abstract Background Leucine rich repeat containing 4 (LRRC4), also known as netrin-G ligand-2 (NGL-2), belongs to the superfamily of LRR proteins and serves as a receptor for netrin-G2. LRRC4 regulates the formation of excitatory synapses and promotes axon differentiation. Mutations in LRRC4 occur in Autism Spectrum Disorder (ASD) and intellectual disability. Multiple sclerosis (MS) is a chronic autoimmune disease characterized by immune-mediated demyelination and neurodegeneration of the central nervous system (CNS). Here, we investigated the role of LRRC4 in the pathological process of experimental autoimmune encephalomyelitis (EAE), a widely used mouse model of MS.Methods LRRC4 was detected in the CNS of EAE mice by the use of real-time PCR and western blotting. LRRC4 -/- mice were created and immunized with myelin oligodendrocyte glycoprotein peptide (MOG) 35–55 . Pathological changes in spinal cords of LRRC4 -/- and WT mice 15 days after immunization were examined by using hematoxylin and eosin (H&E), Luxol Fast Blue (LFB) staining and immunohistochemistry. The number of Th1/Th2/Th17/Treg cells in spleens and blood were measured with flow cytometry. Differential gene expression in the spinal cords from WT and LRRC4 -/- mice was analyzed by using RNA sequencing (RNA-seq). Adeno-associated virus (AAV) vectors were used to overexpress LRRC4 (AAV-LRRC4) and were injected into EAE mice to assess the therapeutic effect of AAV-LRRC4 ectopic expression on EAE.Results We discovered that the level of LRRC4 decreases in the spinal cords of the EAE mice. Deletion of LRRC4 accelerates infiltration of leukocytes into the spinal cords and disease exacerbation in vivo. We further showed that LRRC4 deletion disrupts the balance between Th1 cells and Treg cells and causes a shift toward Th1 cells and that the disrupted balance may be attributed to up-regulation of IL-6, IFN-γ and down-regulation of TNF-α in EAE mice. At a mechanistic level, we found that deficiency of LRRC4 induces elevated NF-κB p65 expression and does so by up-regulating Rab7b, while ectopic expression of LRRC4 alleviates the clinical symptoms of EAE mice and protects the CNS from immune damages.Conclusions We establish a critical role of LRRC4 in the progression of EAE and provide novel mechanistic insights into EAE development. Our findings also suggest that LRRC4 may be used as a potential target for therapeutic treatment of MS.

scholarly journals The Relationship between Expressive Language Sampling and Clinical Measures in Fragile X Syndrome and Typical Development

2020 ◽  
Vol 10 (2) ◽  
pp. 66 ◽  
Author(s):  
Rebecca C. Shaffer ◽  
Lauren Schmitt ◽  
Angela John Thurman ◽  
Leonard Abbeduto ◽  
Michael Hong ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Clinical Symptoms ◽  
Fragile X ◽  
Expressive Language ◽  
Autism Spectrum ◽  
Syntactic Complexity ◽  
Typical Development ◽  
Language Sampling ◽  
Wide Range ◽  
Clinical Measures

Language impairment is a core difficulty in fragile X syndrome (FXS), and yet standardized measures lack the sensitivity to assess developmental changes in the nature of these impairments. Expressive Language Sampling Narrative (ELS-N) has emerged as a promising new measure with research demonstrating its usefulness in a wide range of ages in developmental disabilities and typical development. We examined ELS-N results in FXS and age-matched typically developing (TD) controls along with cognitive, adaptive, and clinical measures. We found the groups differed significantly on all ELS-N variables. Cognitive abilities were related to lexical diversity, syntactic complexity, and unintelligibility for the FXS group, but only verbal abilities were related to syntactic complexity in TD. Autism spectrum disorder (ASD) symptomatology was related to less intelligibility in speech. Measures of hyperactivity were related to increased talkativeness and unintelligibility. In addition, FXS males in comparison to FXS females were more impaired in cognitive ability, ASD symptoms, hyperactivity, and anxiety. This study extends the previous ELS research, supporting its use in FXS research as a measure to characterize language abilities. It also demonstrates the relationships between ELS-N variables and measures of cognitive, adaptive, ASD symptoms, and clinical symptoms.

scholarly journals Endobronchial Mimics of Primary Endobronchial Carcinoma: A Clinical Study of 25 Cases

2005 ◽  
Vol 12 (3) ◽  
pp. 123-127 ◽  
Author(s):  
Cynthia M Magro ◽  
Patrick Ross
Keyword(s):  
Clinical Study ◽  
Fungal Infection ◽  
Head And Neck ◽  
Bronchogenic Carcinoma ◽  
Present Report ◽  
Critical Role ◽  
Signs And Symptoms ◽  
Definitive Diagnosis ◽  
Pathological Assessment

While endobronchial lesions that present with symptoms of obstruction may be reflective of primary bronchogenic malignancy, there have been a number of reports of bronchial lesions other than primary bronchogenic carcinoma simulating primary endobronchial epithelial malignancy clinically. Twenty-five cases of symptomatic endobronchial disease were encountered with pathological assessment demonstrating an endobronchial process other than carcinoma, representing metastatic disease (breast, colon, renal, head and neck origin), fungal infection, Hodgkin's lymphoma, primary bronchogenic melanoma, lipoma, broncholith and inflammatory pseudopolyp. The present report underscores the potential pathogenetic heterogeneity encountered in lesions presenting with signs and symptoms of endobronchial obstruction, emphasizing the critical role of biopsy for establishing a definitive diagnosis.

scholarly journals 18F-FDG PET/CT findings in a possible MELAS syndrome: A case study

2019 ◽  
Author(s):  
Alireza Emami-Ardekani ◽  
Alireza Emami-Ardekani ◽  
Sara Harsini ◽  
Armaghan Fard-Esfahani ◽  
Farzaneh Baseri ◽  
...  
Keyword(s):  
Fdg Pet ◽  
Right Hemisphere ◽  
Clinical Symptoms ◽  
Clinical Signs ◽  
Signs And Symptoms ◽  
Melas Syndrome ◽  
Fdg Uptake ◽  
Pet Ct ◽  
Wide Range ◽  
18F Fdg

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a rare congenital disorder of mitochondrial DNA, presenting a wide range of clinical symptoms comprising headaches, seizures, aphasia, hearing loss, visual defects, and hemiparesis. Herein we report a case of a previously asymptomatic 40-year-old male who presented with recurrent headache, seizures, Wernicke’s aphasia, and impaired visual acuity. Investigations included CT, MRI, MR venography, MR spectroscopy, and PET/CT with 18F-fluorodeoxyglucose (18F-FDG-PET) of the brain. PET imaging showed diffuse increased 18F-FDG uptake in the right hemisphere and left temporal lobe; additionally, decreased 18F-FDG uptake was observed in the left frontoparietal lobe. The patient underwent treatment by levetiracetam, co-enzyme Q10, riboflavin, L-carnitine, and lacosamide, followed by improvement of his clinical signs and symptoms indicative of partial response to the therapy. Key

scholarly journals Introduction

2003 ◽  
Vol 358 (1430) ◽  
pp. 277-280 ◽  
Author(s):  
Uta Frith ◽  
Elisabeth L. Hill
Keyword(s):  
Brain Research ◽  
Neurodevelopmental Disorder ◽  
Signs And Symptoms ◽  
Autism Spectrum ◽  
Processing Style ◽  
Brain Abnormality ◽  
Fast Pace ◽  
Definition Of ◽  
High Level ◽  
Autistic Disorders

Although we know much more now than we did 50 years ago about autism, the nature, origin and even the definition of the condition are still debated and remain largely unknown. This special issue begins with a review of the facts about autistic disorders, as they are known at present. In their introduction, Elizabeth Hill & Uta Frith (2003) remind the reader that autism is no longer regarded as a rare disease. They provide examples of genetic and brain research that targets the biological causes of autism and they review the three major cognitive theories that are currently used to explain the core signs and symptoms of autism. Much more is known now about autism than was known only a few years ago, and there is justified hope that our understanding of autism will continue to accelerate at a fast pace. This issue contains examples of the cutting edge of research and highlights some of the most burning questions. Some of these relate to the diagnosis of Asperger syndrome (AS), the identification of subgroups in the autism spectrum and early signs of autistic disorder. Other questions relate to the brain abnormalities that underlie the putative cognitive deficits and whether these can be made visible through magnetic resonance imaging. The shared assumption among the contributors is that autism is a neurodevelopmental disorder that gives us a unique window on the relationship between mind and brain. The research reported elaborates the key theories that have been put forward to explain the signs and symptoms of autism. These theories try to explain the selective impact of brain abnormality on some of the most high–level mental functions, such as social insight, empathy and information processing style.

The Role of the SLP in Autism Spectrum Disorder Screening and Assessment

2008 ◽  
Vol 15 (2) ◽  
pp. 50-59 ◽  
Author(s):  
Amy Philofsky
Keyword(s):  
Language Development ◽  
Critical Role ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Children With Asd ◽  
Prevalence Estimates ◽  
Notable Increase ◽  
Screening Assessment ◽  
Critical Components

AbstractRecent prevalence estimates for autism have been alarming as a function of the notable increase. Speech-language pathologists play a critical role in screening, assessment and intervention for children with autism. This article reviews signs that may be indicative of autism at different stages of language development, and discusses the importance of several psychometric properties—sensitivity and specificity—in utilizing screening measures for children with autism. Critical components of assessment for children with autism are reviewed. This article concludes with examples of intervention targets for children with ASD at various levels of language development.

The way of value of Correlation of genomic DNA microsatellite loci and live weight of Chukchi reindeer

2020 ◽  
pp. 27-32
Author(s):  
V. Dodokhov ◽  
N. Pavlova ◽  
T. Rumyantseva ◽  
L. Kalashnikova
Keyword(s):  
Microsatellite Markers ◽  
Agricultural Production ◽  
Live Weight ◽  
Biodiversity Loss ◽  
Tribal Community ◽  
High Germination ◽  
Wide Range ◽  
The Mean ◽  
High Level ◽  
Dna Microsatellite

The article presents the genetic characteristic of the Chukchi reindeer breed. The object of the study was of the Chukchi reindeer. In recent years, the number of reindeer of the Chukchi breed has declined sharply. Reduced reindeer numbers could lead to biodiversity loss. The Chukchi breed of deer has good meat qualities, has high germination viability and is adapted in adverse tundra conditions of Yakutia. Herding of the Chukchi breed of deer in Yakutia are engaged only in the Nizhnekolymsky district. There are four generic communities and the largest of which is the agricultural production cooperative of nomadic tribal community «Turvaurgin», which was chosen to assess the genetic processes of breed using microsatellite markers: Rt6, BMS1788, Rt 30, Rt1, Rt9, FCB193, Rt7, BMS745, C 143, Rt24, OheQ, C217, C32, NVHRT16, T40, C276. It was found that microsatellite markers have a wide range of alleles and generally have a high informative value for identifying of genetic differences between animals and groups of animal. The number of identified alleles is one of the indicators of the genetic diversity of the population. The total number of detected alleles was 127. The Chukchi breed of deer is characterized by a high level of heterozygosity, and the random crossing system prevails over inbreeding in the population. On average, there were 7.9 alleles (Na) per locus, and the mean number of effective alleles (Ne) was 4.1. The index of fixation averaged 0.001. The polymorphism index (PIC) ranged from 0.217 to 0.946, with an average of 0.695.

Disorder-specific alterations of tactile sensitivity in neurodevelopmental disorders

2020 ◽  
Author(s):  
Jason He ◽  
Ericka Wodka ◽  
Mark Tommerdahl ◽  
Richard Edden ◽  
Mark Mikkelsen ◽  
...  
Keyword(s):  
Clinical Symptoms ◽  
Autism Spectrum ◽  
Typically Developing ◽  
Hyperactivity Disorder ◽  
The Core ◽  
Children With Asd ◽  
Tactile Detection ◽  
Spectrum Disorders ◽  
Sensory Processes ◽  
Core Symptoms

Alterations of tactile processing have long been identified in autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD). However, the extent to which these alterations are disorder-specific, rather than disorder-general, and how they relate to the core symptoms of each disorder, remains unclear. We measured and compared tactile detection, discrimination and order judgment thresholds between a large sample of children with ASD, ADHD, ASD + ADHD combined and typically developing controls. The pattern of results suggested that while difficulties with tactile detection and order judgement were more common in children with ADHD, difficulties with tactile discrimination were more common in children with ASD. Strikingly, subsequent correlation analyses found that the disorder-specific alterations suggested by the group comparisons were also exclusively related to the core symptoms of each respective disorder. These results suggest that disorder-specific alterations of lower-level sensory processes exist and are specifically related to higher-level clinical symptoms of each disorder.

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