Introduction:Auditory symptoms in individuals with Autistic Spectrum Disorder(ASD)are well described within the neurodevelopmental literature,yet there is minimal mention of ASD in Otolaryngology literature.This is su...Introduction:Auditory symptoms in individuals with Autistic Spectrum Disorder(ASD)are well described within the neurodevelopmental literature,yet there is minimal mention of ASD in Otolaryngology literature.This is surprising considering the potential clinical and diagnostic implications of this link,and the potential for ASD to present to Otolaryngologists in the form of unexplained auditory symptoms.The aims of this literature review were to explore the intersection of auditory symptoms and ASD from the perspective of clinical Otolaryngology,and to outline a clinically focused research agenda based on emerging themes relevant to Otolaryngology.Methods:We searched Pubmed,Embase,Ovid and Cochrane library for studies until November 2021.Four authors independently reviewed 227 publications identified.39 were filtered into the final analysis.The PRISMA 2020 guidelines were followed.The heterogeneity of literature meant that a Systematic Review was not feasible.Included studies were therefore classified thematically,forming the basis of the scoping review.Results:Diagnostic theories for auditory symptoms in ASD include the entire auditory pathway and brain.There is a growing body of literature on auditory symptoms in ASD,suggesting that a primary diagnosis of ASD should be considered in patients presenting with otherwise unexplained auditory symptoms,and indicating a learning need for Otolaryngologists and audiologists,to whom these patients may present.Conclusion:We recommend a research agenda focusing on multidisciplinary collaboration,stakeholder engagement,responsible clinical screening,and clarification of pathophysiological mechanisms and terminology.展开更多
To examine the difference between early-onset (< age 3) childhood disintegrative disorder (CDD) and autistic disorder with speech loss (ADSL), 8 children with early-onset CDD (mean age = 7.6 years, SD = 3.8;6 males...To examine the difference between early-onset (< age 3) childhood disintegrative disorder (CDD) and autistic disorder with speech loss (ADSL), 8 children with early-onset CDD (mean age = 7.6 years, SD = 3.8;6 males) were compared with 92 age and gender-ratio comparable children with ADSL (mean age = 6.8 years, SD = 4.1;70 males) on 24 variables not directly related to the key features of CDD (regression after normal development for at least the first 2 years after birth). Compared with the ADSL group, the early-onset CDD group had a tendency to have a higher rate of a psychosocial event before speech loss (SL) (early-onset CDD, 75.0% vs ADSL, 37.0%, p = 0.057;effect size (phi) = 0.211, p < 0.05);a significantly higher rate of fearfulness during SL (62.5% vs 4.3%, p = 0.000;phi = 0.551, p < 0.05);and a tendency to have a higher rate of epilepsy (25.0% vs 3.3%, p = 0.050;phi = 0.271, p < 0.05), a tendency to have a lower rate of the Childhood Autism Rating Scale-Tokyo Version (CARS-TV) total score ≥ 30 (75.0% vs 95.7%, p = 0.072;phi = 0.236, p < 0.05), and a significantly lower rate of CARS-TV item 2 (imitation) score ≥ 2 (50.0% vs 82.6%, p = 0.049;phi = 0.221, p < 0.05) on the first visit. The two groups did not exhibit any significant difference in the other 19 variables. The findings of no significant difference in the great majority and a significant difference in the small minority of the 24 variables between the two groups support integrating CDD into regressive autism spectrum disorder and studying CDD as its prototypical form.展开更多
Studies on the evaluation by therapists of parental behavior towards their children with Autistic Spectrum Disorder(ASD)and towards the therapists of their children are scarce.They are necessary,however,for enabling p...Studies on the evaluation by therapists of parental behavior towards their children with Autistic Spectrum Disorder(ASD)and towards the therapists of their children are scarce.They are necessary,however,for enabling parents to become co-therapists.The present study’s purpose was the evaluation by therapists of the behavior of parents towards their children,of their relationship to therapists,and therapy outcome.The sample consisted of 178 parents of 89 children(72 boys)with ASD,who underwent intensive early intervention at a day centre for developmental disabilities.The professional team completed a questionnaire,separately for the mother and father,evaluating the parental attitude towards their children and towards the therapists.The behavior of parents was less satisfactory than expected.The fathers had difficulties in understanding their child’s problems,and had unrealistic expectations;mothers’behavior towards their children and therapists was better than the fathers’.Mothers had difficulty mostly in the management of the child’s behavior,and did not do well with feeding.It might be difficult for every parent to become co-therapist.Understanding the child’s difficulties by the mother,adequate handling of feeding and homework,were statistically significant in the good outcome of therapy.展开更多
With an increase in the number of cases of autism spectrum disorder(ASD),dental professionals need to be aware of the different techniques required to ensure safe dental treatments for affected patients. The concerns ...With an increase in the number of cases of autism spectrum disorder(ASD),dental professionals need to be aware of the different techniques required to ensure safe dental treatments for affected patients. The concerns and preferences of the parents and the medical and dental history of each patient should be considered. The aim of this article was to provide a comprehensive update on the medical and dental health of patients with ASD. A detailed search of the electronic database PubMed/Medline/Lilacs was performed for the terms"Autism", "Autistic", "Autism Spectrum Disorder", "ASD", "Dentistry" and"Dentist", in the period between 2006 and 2017. Systemic reviews, research articles, and literature reviews were included. Expert opinions, case series, and case reports were excluded from the search. A detailed family-centered approach based on the preferences and concerns of parents is an important foundation for appropriate individualized dental treatment of patients with ASD. In addition,the knowledge of disruptive behaviors and patient′s challenges may guide dental practitioners in improving treatment planning, oral management, and the overall oral health of patients with ASD.展开更多
Autistic spectrum disorder(ASD)is a male-biased,heterogeneous neurodevelopmental disorder that affects approximately 1%e2%of the population.Prenatal exposure to valproic acid(VPA)is a recognized risk factor for ASD,bu...Autistic spectrum disorder(ASD)is a male-biased,heterogeneous neurodevelopmental disorder that affects approximately 1%e2%of the population.Prenatal exposure to valproic acid(VPA)is a recognized risk factor for ASD,but the cellular and molecular basis of VPA-induced ASD at the single-cell resolution is unclear.Here,we aim to compare the cellular and molecular differences in the hippocampus between male and female prenatal mice with ASD at the single-cell transcriptomic level.The transcriptomes of more than 45,000 cells are assigned to 12 major cell types,including neurons,glial cells,vascular cells,and immune cells.Cell type-specific genes with altered expression after prenatal VPA exposure are analyzed,and the largest number of differentially expressed genes(DEGs)are found in neurons,choroid plexus epithelial cells,and microglia.In microglia,several pathways related to inflammation are found in both males and females,including the tumor necrosis factor(TNF),nuclear factor kappa B(NF-kB),toll-like receptor(TLR),and mitogen-activated protein kinase(MAPK)signaling pathways,which are important for the induction of autistic-like behavior.Additionally,we note that several X-linked genes,including Bex1,Bex3,and Gria3,were among the male-specific DEGs of neurons.This pioneering study describes the landscape of the transcriptome in the hippocampus of autistic mice.The elucidation of sexual differences could provide innovative strategies for the prevention and treatment of ASD.展开更多
The present study describes the occurrence of psychiatric comorbid disorders in a cohort of 86 high functioning autism (HFA)/Asperger syndrome (AS) patients, examined at Child Neurology and Psychiatry Unit of Tor Verg...The present study describes the occurrence of psychiatric comorbid disorders in a cohort of 86 high functioning autism (HFA)/Asperger syndrome (AS) patients, examined at Child Neurology and Psychiatry Unit of Tor Vergata University. 38 patients out of 86 (44.2%) presented one or more psychiatric comorbidities, such as mood disorders, Attention Deficit/Hyperactivity Disorder (ADHD), Tourette syndrome (TS), anxiety disorders, including obsessive-compulsive disorder (OCD), and psychotic symptoms. We compared our sample with the evidences from the scientific literature on psychiatric comorbidity in ASD patient, in particular in HFA/AS. In this paper we focus on the high frequency of comorbid psychiatric disorders in HFA/AS patients, such as mood disorders, Attention Deficit/Hyperactivity Disorder (ADHD), Tourette syndrome (TS), anxiety disorders, including obsessive-compulsive disorder (OCD), and psychosis, including schizophrenia. We analyzed rates of all psichiatric comorbidities diagnosed in a sample of HFA/AS subjects and we compared findings from our study with the evidences from the scientific literature on psychiatric comorbidity in ASD patients, in particular HFA/AS. We point out that comorbid psychiatric symptoms can be hardly diagnosed, because they could present atipically in ASDs then in general population. Furthermore, they could be masked by ASD core symptoms.展开更多
Autism and Asperger’s syndrome belong to a family of neuro-developmental disorders called Pervasive Development Disorders. The aims of this study were to 1) quantify the overall functional performance and need for ca...Autism and Asperger’s syndrome belong to a family of neuro-developmental disorders called Pervasive Development Disorders. The aims of this study were to 1) quantify the overall functional performance and need for caregiver assistance in autism (A) and Asperger’s syndrome (AS), 2) compare the findings between groups and to normative data from Brazilian children. Methods: A cross-sectional study was carried out involving 52 children between three and eight years of age diagnosed with either A (n = 26) or SA (n = 26). The Brazilian version of the Pediatric Evaluation of Disability Inventory was administered. Results: The children with A and AS achieved significantly lower scores than that expected for normality. The children with AS had a significantly better social function than that the children with A had. However, those with A achieved significantly better scores than those with AS on activities related to self-care and mobility, requiring less assistance. Conclusion: While patients with AS are better at social interaction than typical autistic children, they exhibit greater deficits with regard to basic tasks, such as self-care and mobility, requiring greater assistance than children with A.展开更多
基金supported by the National Institute for Health ResearchManchester Biomedical Research Centre.
文摘Introduction:Auditory symptoms in individuals with Autistic Spectrum Disorder(ASD)are well described within the neurodevelopmental literature,yet there is minimal mention of ASD in Otolaryngology literature.This is surprising considering the potential clinical and diagnostic implications of this link,and the potential for ASD to present to Otolaryngologists in the form of unexplained auditory symptoms.The aims of this literature review were to explore the intersection of auditory symptoms and ASD from the perspective of clinical Otolaryngology,and to outline a clinically focused research agenda based on emerging themes relevant to Otolaryngology.Methods:We searched Pubmed,Embase,Ovid and Cochrane library for studies until November 2021.Four authors independently reviewed 227 publications identified.39 were filtered into the final analysis.The PRISMA 2020 guidelines were followed.The heterogeneity of literature meant that a Systematic Review was not feasible.Included studies were therefore classified thematically,forming the basis of the scoping review.Results:Diagnostic theories for auditory symptoms in ASD include the entire auditory pathway and brain.There is a growing body of literature on auditory symptoms in ASD,suggesting that a primary diagnosis of ASD should be considered in patients presenting with otherwise unexplained auditory symptoms,and indicating a learning need for Otolaryngologists and audiologists,to whom these patients may present.Conclusion:We recommend a research agenda focusing on multidisciplinary collaboration,stakeholder engagement,responsible clinical screening,and clarification of pathophysiological mechanisms and terminology.
文摘To examine the difference between early-onset (< age 3) childhood disintegrative disorder (CDD) and autistic disorder with speech loss (ADSL), 8 children with early-onset CDD (mean age = 7.6 years, SD = 3.8;6 males) were compared with 92 age and gender-ratio comparable children with ADSL (mean age = 6.8 years, SD = 4.1;70 males) on 24 variables not directly related to the key features of CDD (regression after normal development for at least the first 2 years after birth). Compared with the ADSL group, the early-onset CDD group had a tendency to have a higher rate of a psychosocial event before speech loss (SL) (early-onset CDD, 75.0% vs ADSL, 37.0%, p = 0.057;effect size (phi) = 0.211, p < 0.05);a significantly higher rate of fearfulness during SL (62.5% vs 4.3%, p = 0.000;phi = 0.551, p < 0.05);and a tendency to have a higher rate of epilepsy (25.0% vs 3.3%, p = 0.050;phi = 0.271, p < 0.05), a tendency to have a lower rate of the Childhood Autism Rating Scale-Tokyo Version (CARS-TV) total score ≥ 30 (75.0% vs 95.7%, p = 0.072;phi = 0.236, p < 0.05), and a significantly lower rate of CARS-TV item 2 (imitation) score ≥ 2 (50.0% vs 82.6%, p = 0.049;phi = 0.221, p < 0.05) on the first visit. The two groups did not exhibit any significant difference in the other 19 variables. The findings of no significant difference in the great majority and a significant difference in the small minority of the 24 variables between the two groups support integrating CDD into regressive autism spectrum disorder and studying CDD as its prototypical form.
文摘Studies on the evaluation by therapists of parental behavior towards their children with Autistic Spectrum Disorder(ASD)and towards the therapists of their children are scarce.They are necessary,however,for enabling parents to become co-therapists.The present study’s purpose was the evaluation by therapists of the behavior of parents towards their children,of their relationship to therapists,and therapy outcome.The sample consisted of 178 parents of 89 children(72 boys)with ASD,who underwent intensive early intervention at a day centre for developmental disabilities.The professional team completed a questionnaire,separately for the mother and father,evaluating the parental attitude towards their children and towards the therapists.The behavior of parents was less satisfactory than expected.The fathers had difficulties in understanding their child’s problems,and had unrealistic expectations;mothers’behavior towards their children and therapists was better than the fathers’.Mothers had difficulty mostly in the management of the child’s behavior,and did not do well with feeding.It might be difficult for every parent to become co-therapist.Understanding the child’s difficulties by the mother,adequate handling of feeding and homework,were statistically significant in the good outcome of therapy.
文摘With an increase in the number of cases of autism spectrum disorder(ASD),dental professionals need to be aware of the different techniques required to ensure safe dental treatments for affected patients. The concerns and preferences of the parents and the medical and dental history of each patient should be considered. The aim of this article was to provide a comprehensive update on the medical and dental health of patients with ASD. A detailed search of the electronic database PubMed/Medline/Lilacs was performed for the terms"Autism", "Autistic", "Autism Spectrum Disorder", "ASD", "Dentistry" and"Dentist", in the period between 2006 and 2017. Systemic reviews, research articles, and literature reviews were included. Expert opinions, case series, and case reports were excluded from the search. A detailed family-centered approach based on the preferences and concerns of parents is an important foundation for appropriate individualized dental treatment of patients with ASD. In addition,the knowledge of disruptive behaviors and patient′s challenges may guide dental practitioners in improving treatment planning, oral management, and the overall oral health of patients with ASD.
基金supported by the National Natural Science Foundation of China(82074162 and 82274344)Project for Capacity Promotion of Putuo District Clinical Special Disease“Stroke”,Science and Technology Innovation Project of Putuo District Health System(ptkwws201902 and ptkwws202301)+2 种基金Training Plan of“100 professionals”of Shanghai Putuo District Central Hospital(2022-RCJC-05)Project of“XingLin Scholars Training”of Chengdu University of Traditional Chinese Medicine(YYZX2022170)Shanghai Putuo District Health System Clinical Characteristic Special Disease Construction Project(2023tszb04).
文摘Autistic spectrum disorder(ASD)is a male-biased,heterogeneous neurodevelopmental disorder that affects approximately 1%e2%of the population.Prenatal exposure to valproic acid(VPA)is a recognized risk factor for ASD,but the cellular and molecular basis of VPA-induced ASD at the single-cell resolution is unclear.Here,we aim to compare the cellular and molecular differences in the hippocampus between male and female prenatal mice with ASD at the single-cell transcriptomic level.The transcriptomes of more than 45,000 cells are assigned to 12 major cell types,including neurons,glial cells,vascular cells,and immune cells.Cell type-specific genes with altered expression after prenatal VPA exposure are analyzed,and the largest number of differentially expressed genes(DEGs)are found in neurons,choroid plexus epithelial cells,and microglia.In microglia,several pathways related to inflammation are found in both males and females,including the tumor necrosis factor(TNF),nuclear factor kappa B(NF-kB),toll-like receptor(TLR),and mitogen-activated protein kinase(MAPK)signaling pathways,which are important for the induction of autistic-like behavior.Additionally,we note that several X-linked genes,including Bex1,Bex3,and Gria3,were among the male-specific DEGs of neurons.This pioneering study describes the landscape of the transcriptome in the hippocampus of autistic mice.The elucidation of sexual differences could provide innovative strategies for the prevention and treatment of ASD.
文摘The present study describes the occurrence of psychiatric comorbid disorders in a cohort of 86 high functioning autism (HFA)/Asperger syndrome (AS) patients, examined at Child Neurology and Psychiatry Unit of Tor Vergata University. 38 patients out of 86 (44.2%) presented one or more psychiatric comorbidities, such as mood disorders, Attention Deficit/Hyperactivity Disorder (ADHD), Tourette syndrome (TS), anxiety disorders, including obsessive-compulsive disorder (OCD), and psychotic symptoms. We compared our sample with the evidences from the scientific literature on psychiatric comorbidity in ASD patient, in particular in HFA/AS. In this paper we focus on the high frequency of comorbid psychiatric disorders in HFA/AS patients, such as mood disorders, Attention Deficit/Hyperactivity Disorder (ADHD), Tourette syndrome (TS), anxiety disorders, including obsessive-compulsive disorder (OCD), and psychosis, including schizophrenia. We analyzed rates of all psichiatric comorbidities diagnosed in a sample of HFA/AS subjects and we compared findings from our study with the evidences from the scientific literature on psychiatric comorbidity in ASD patients, in particular HFA/AS. We point out that comorbid psychiatric symptoms can be hardly diagnosed, because they could present atipically in ASDs then in general population. Furthermore, they could be masked by ASD core symptoms.
基金supported by the Fundacao de Amparo a Pesquisa do Estado de Sao Paulo(FAPESP)—Proc.2011/14116-5.
文摘Autism and Asperger’s syndrome belong to a family of neuro-developmental disorders called Pervasive Development Disorders. The aims of this study were to 1) quantify the overall functional performance and need for caregiver assistance in autism (A) and Asperger’s syndrome (AS), 2) compare the findings between groups and to normative data from Brazilian children. Methods: A cross-sectional study was carried out involving 52 children between three and eight years of age diagnosed with either A (n = 26) or SA (n = 26). The Brazilian version of the Pediatric Evaluation of Disability Inventory was administered. Results: The children with A and AS achieved significantly lower scores than that expected for normality. The children with AS had a significantly better social function than that the children with A had. However, those with A achieved significantly better scores than those with AS on activities related to self-care and mobility, requiring less assistance. Conclusion: While patients with AS are better at social interaction than typical autistic children, they exhibit greater deficits with regard to basic tasks, such as self-care and mobility, requiring greater assistance than children with A.
