Autistic Spectrum Disorders (ASD)

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The functionality profile of children with Autistic Spectrum Disorders (ASD) in the Azores – communication, learning and autonomy

The functionality profile of children with Autistic Spectrum Disorders (ASD) in the Azores – communication, learning and autonomy

Autism is a disorder of the neuro-development which is characterized by persistent difficulties in communication, speech, cognitive processes, social interaction and also by restrict interests and repetitive and stereotyped behaviours. This syndrome points to the importance of having trained and qualified staff, investing in physical and material resources, and searching for the most adequate answers to the educational needs of these children. Regarding the formal education, according to the vision of Universal Design for Learning (UDL), the educational approach should enhance not only the academic acquisitions but also the prognosis of the evolution of the clinical condition and of the functionality of children with Autistic Spectrum Disorders (ASD). Considering that UDL approach invests in flexible objectives, methods, materials and evaluation, to differentiate learning taking into account the needs of each pupil, it is important to know the perspectives of educators/teachers and parents/caretakers of children with ASD. These two groups have significant and additional information on these children potentialities. Educators/teachers and parents/caretakers of 121 children participated in this study. These children, aged 3-11 years old, live in the Autonomous Region of the Azores (ARA) and are enrolled in kindergarten and in primary schools, comprising 30 public schools, 8 private schools and 40 private institutions for social solidarity. Data were collected with a questionnaire (educators/teachers) and in an interview (parents/caretakers). Results suggest that there are different perspectives between the two groups, with educators/teachers viewing the functionality profile of these children as being more aggravated. The analysis of these different perspectives evidences the importance of the communication between these educational providers regarding the work developed by them in order to promote the functionality of children with ASD.
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Parental and grandparental ages in the autistic spectrum disorders: a birth cohort study.

Parental and grandparental ages in the autistic spectrum disorders: a birth cohort study.

There is evidence from many parts of the developed world that the prevalence of diagnosed autistic spectrum disorder (ASD) has been rising dramatically. Although evidence from twin studies suggests a strong level of heritability, it is clear that there must also be other factors at play. Parental ages have received some attention - there have been a few case control studies comparing ages of mothers of children with autistic spectrum disorder (ASD) with controls and showing that ASD mothers tended to be older than controls, but these studies either had selected non-population based cases, or had inadequate controls or numbers too small for adequate conclusions. In recent years, however, there have been a number of large population based studies of cases of ASD compared either with all births born over the same period or with a set of controls randomly selected from the population at risk. Their conclusions have varied. For example, there have been three studies from Scandinavia, taking advantage of their birth registries and their facility to link these with case registries. That from Sweden, compared 408 cases with 2040 controls and reported no association with advanced maternal age [1]; the two studies from Denmark covering births from 1984–98 [2] and 1973–98 [3] overlapped considerably, yet they come to different conclusions in
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Review of foreign approaches to development of communication in children with autistic spectrum disorders

Review of foreign approaches to development of communication in children with autistic spectrum disorders

The article presents a generalized overview of international approaches to the evaluation and formation of communication in children with autism spectrum disor- ders (ASD). Described radicals communication disorders in children with ASD. Analyzed foreign approaches (Communication system for the exchange of images (PECS) Lori Frost and Andrew Bondy; options piktogramme-ideogrammic commu- nication (bliss-symbolism, Loeb system), a system of sign language; Program in Applied verbal behavior; a Method of facilitating communication (FC) and others) used for the development of communication in children with ASD and conditions underlying these approaches. Examined differences in focus for the development of communication in children with ASD in domestic and foreign schools. The main conditions for the development of communication in children with ASD described in the framework of cultural-historical psychology and activity approach, ensuring the inclusion of children with ASD in education.
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Consumo alimentar, segundo o grau de processamento, de crianças e adolescentes com transtorno do espectro autista / Food consumption by the processing level of children and adolescents with autistic spectrum disorders

Consumo alimentar, segundo o grau de processamento, de crianças e adolescentes com transtorno do espectro autista / Food consumption by the processing level of children and adolescents with autistic spectrum disorders

Objective: To evaluate food consumption according to the degree of food processing in autistic people. Methods: This is a cross-sectional study conducted with children and adolescents with autism spectrum disorder registered at four institutions located in Maceió-AL, in 2019. Socioeconomic information, personal history, perinatal and clinical data were collected, and for evaluation of food consumption, a semi-quantitative food questionnaire was used. Foods were categorized according to the degree of processing according to the classification of the Food Guide for the Brazilian population. The data were analyzed with the support of SPSS software version 22.0. Results: The sample consisted of 180 individuals and it was found that more than 1/4 of those evaluated consumed ultra-processed foods daily. With regard to fresh foods, approximately 34% of children do not consume fruit daily, and only 45.56% eat some vegetable in a regular way. Conclusion: the evaluated public has an inadequate dietary pattern, marked by the low consumption of minimally processed foods and a high intake of ultra-processed foods, which can interfere with the nutritional and health status of this population.
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Subtelomeric region of chromosome 2 in patients with autism spectrum disorders

Subtelomeric region of chromosome 2 in patients with autism spectrum disorders

Due to the dificulty in establishing diagnostic boundaries between diseases consid- ered to be invasive development disorders (CID-10; OMS, 1993), such as Asperger’s syn- drome, non-speciied pervasive development disorders and autism, they are referred to as autistic spectrum disorders (ASDs; CDC, 2006). These are severe psychiatric diseases which are characterized by multiple neurological manifestations that have a heterogeneous etiology which is dificult to elucidate and poorly understood (Bailey et al., 1996; Steiner et al., 2003). These diseases are present at birth, become apparent before 30 months of life and are char- acterized by abnormal responses to audible and visual stimuli as well as lack of or underde- veloped speech. Individuals have severe problems in social relationships, ritualistic behavior associated with abnormal routines and resistance to change, reduced capacity for abstract and symbolic thoughts or for imaginative games, with intelligence being subnormal, normal or above normal (ABRA, 1994). Most cases (75%) have mental deiciency (Rutgers et al., 2004), 15 to 40% convulsions and 20 to 25% electroencephalographic alterations (Smalley, 1997; Gabis et al., 2005). However, with the exception of Rett syndrome which shows a genetic eti- ology and in many cases new mutations of the MECP2 gene mapped on Xq28 (Tejada, 2006), the etiology of other pervasive development disorders remains unclear.
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Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.

These duplications are considered of uncertain clinical signif- icance since they were previously detected at similar frequencies in patients with epilepsy (6 of 647, 0.93%), in controls (19 of 3699, 0.51%) [50], and in subjects referred for chromosomal microarray analysis (55 of 8832, 0.62%) [51]. In contrast, larger 15q13.3 deletions (,1.5 Mb) between BP4 and BP5, encompassing the CHRNA7 locus have been associated with disorders such as ID, epilepsy, schizophrenia, and ASD [43,46–48,50,52–54,57–59]. In the BP4 region, the same two patients AU038_3 and 5237_3 also carried two independent deletions of the rhoGAP ARHGAP11B gene. Loss of ARHGAP11B was detected in 8 of 1257 patients with ASD (0.64%) and in 4 of 1577 controls (0.25%) (Fisher’s exact test, 2-sided P = 0.15). Patient 5237_3 carried a large deletion (235.2 kb) of the full gene, transmitted by the mother. Patient AU038_3 carried a smaller deletion of 49.8 kb of the first two exons, transmitted by the mother. Both deletions overlap the segmental duplications of BP4 and have been reported to accompany the majority of microduplications involving CHRNA7 [51]. However, in patient 5237_3, the two CNVs are present on distinct parental chromosomes since the CHRNA7 duplication and the ARHGAP11B deletion are paternally and maternally inherited, respectively. Finally, the third patient, 6319_3, carried a paternally-inherited BP1-BP2 deletion of 468 kb, removing indicated by gray boxes. C. Alternative splicing of human SHANK2; exons 19, 20 and 23 are specific to the brain. ANK, ankyrin; SH3, Src homology 3; PDZ, PSD95/DLG/ZO1; SAM, sterile alpha motif; He, heart; Li, liver; B, brain; SM, skeletal muscle; Pl, placenta; K, kidney; Lu, lung; Pa, pancreas; FC, frontal cortex; Hi, hippocampus; TC, temporal cortex; T, thalamus; OC, occipital cortex; Ce, cerebellum; Cx, whole cortex; BLCL, B lymphoblastoid cell lines; GAPDH, glyceraldehyde 3-phosphate dehydrogenase; BSR, brain specific region; H, homer binding site; D, dynamin binding site; C, cortactin binding site. The ages of the two males and the two females studied were 74, 42, 55, and 36 years with a post-mortem interval of 10, 21, 24, and 2 h, respectively.
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Screening, identification and evaluation of autism spectrum disorders in primary health care

Screening, identification and evaluation of autism spectrum disorders in primary health care

For a long time, childrens' autism was placed in a group of psychotic disorders in childhood. Children's autism, as a separate clinical entity, showed up for the first time in 1980, when the National Council of the American Association for autism suggested a third edition of the Diagnostic and Statis- tical Manual of Mental Disorders 5 (DSM-III classification) to promote a rather different conceptual approach. Children's autism has been since then (and is now) understood and con- sidered not as a psychosis but as a disease with damaged flow of normal developmental processes in the social, cogni- tive and psychological spheres. In other words, children's autism is a pervasive developmental disorder.
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The influence of agrochemicals present in maternal nutrition in the birth of children with autistic spectrum disorder

The influence of agrochemicals present in maternal nutrition in the birth of children with autistic spectrum disorder

Organochlorine pesticides are a group of widely used chemicals with characteristics of bioaccumulation in food chains, persistence in various environments and potential toxic effects on the brain 14 . In addition, they are highly liposoluble and resistant to degradation, they have low volatility, and a slow rate of biotransformation. These characteristics that confer the effectiveness of pesticides are the same ones that led to the prohibition of the use of these substances in some countries due to their harmful effects on the environment and on the health of living beings 15 . Endosulfan is an organochlorine widely used as a broad spectrum insecticide for the control of agricultural pests, used both in non-food crops such as tobacco and cotton, as well as in food crops such as cocoa, coffee and soybeans. Although it is no longer produced in the United States, this insecticide is widely used in other countries, such as Turkey, Mexico and Brazil 16,17 . The main source of human exposure to endosulfan is food contaminated with agrotoxic waste. Exposure of the mother and child to these pesticides is a common event both in the uterus and through breastfeeding
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Individuals with autism spectrum disorders do not use social stereotypes in irony comprehension.

Individuals with autism spectrum disorders do not use social stereotypes in irony comprehension.

Social and communication impairments are part of the essential diagnostic criteria used to define Autism Spectrum Disorders (ASDs) [1,2]. These impairments are often related to a serious deficit in the capacity for mentalizing [3], the natural tendency to explain everyday actions in terms of mental states. High Functioning Autism (HFA) and Asperger Syndrome (AS) are widely acknowledged to be variants on this spectrum [1,2]. While HFA commonly refers to individuals with a history of speech and language delay, individuals with AS show no evidence of delayed language function. Moreover, differently from individuals with low-functioning autism, adults with HFA and AS (HFA/AS) do pass first- and second-order Theory-of-Mind or mindreading (i.e., the ability to attribute mental states to oneself and to others; ToM) tests [4–5], but they may fail in more ‘advanced’ ToM tasks, based on the detection of sarcasm, irony or bluff [6] or the recognition of Faux Pas [7,8].
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Children with Autism Spectrum Disorders have "the working raw material" for time perception.

Children with Autism Spectrum Disorders have "the working raw material" for time perception.

Clinical reports suggest that subjects with autism have another major deficit - a timing deficit [7–9]. Therefore, the ability to time events and actions is crucial for the adaptation of behavior to the physical and social environment [10–13]. Indeed, the ability to process time correctly ensures that social interaction with others progresses harmoniously and permits, for example, intersubjectiv- ity at an early stage of development [14], [15]. It allows children to understand and learn the dynamic of language (i.e. turn-taking) and non-verbal social cues [16]. It also makes it possible to predict the timing of events. In this domain, some researchers have suggested that autistic children often produce repetitive behaviors to compensate for their difficulties in predicting incoming events [17]. Taken together, the diagnostic criteria and the clinical reports have therefore prompted speculation that difficulties in processing time might be an important factor in autistic disorders and might explain a part or even all of the primary symptoms [17].
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Prosodic skills in typical development and in autism spectrum disorders (opening conference)

Prosodic skills in typical development and in autism spectrum disorders (opening conference)

Os resultamos mostram competências prosódicas evoluindo com a idade O grupo dos 5 anos atingiu efeitos de tecto na tarefas afetivas O grupo dos 7 anos atingiu o nível do adulto na compet[r]

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Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders

Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders

AGP: Autism Genome Project; AGRE: Autism Genetics Resource Exchange; ANXA1: Annexin A1; ASD: Autism spectrum disorders; CHOP: Children ’s hospital of Philadelphia; CNVs: Copy number vari[r]

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Functional impact of global rare copy number variation in autism spectrum disorders

Functional impact of global rare copy number variation in autism spectrum disorders

Twin and family studies indicate a predominantly genetic basis for ASD susceptibility and provide support for considering these dis- orders as a clinical spectrum. Some 5–15% of individuals with an ASD have an identifiable genetic aetiology corresponding to known rare single-gene disorders (for example, fragile X syndrome) and chromosomal rearrangements (for example, maternal duplication of 15q11-q13). Rare mutations have been identified in synaptic genes, including NLGN3, NLGN4X (ref. 4) and SHANK3 (ref. 5), and micro- array studies have revealed copy number variation (CNV) as risk factors 6 . CNV examples include de novo events observed in 5–10%
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Obsessive-Compulsive Disorder and Autism Spectrum Disorders: Longitudinal and Offspring Risk.

Obsessive-Compulsive Disorder and Autism Spectrum Disorders: Longitudinal and Offspring Risk.

Comorbidity of OCD and autism spectrum disorder is further reflected in common features of treatment and brain pathophysiology. Antidepressants, especially selective serotonin reup- take inhibitors, constitute the pharmacological treatment of choice for most patients with OCD [9]. Not many medications are truly effective in the treatment of autism spectrum disor- ders [10], although recent studies indicated that antidepressants might be of value in treatment of autism [11–13]. Furthermore, similar brain structure abnormalities were found in patients with OCD and autism spectrum disorders [14]. In contrast to patients with other anxiety disor- ders patients with OCD displayed increased gray matter volumes in the caudate nuclei [15, 16]. Structural changes in this limbic area are also described in autism spectrum disorders [17, 18]. Such similarities and overlaps in putative pathophysiology are quite rare and apply to only a fraction of clinical samples.
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Screening for FMR1 expanded alleles in patients with Autism Spectrum Disorders in Manaus, Northern Brazil

Screening for FMR1 expanded alleles in patients with Autism Spectrum Disorders in Manaus, Northern Brazil

this study was approved by the Committee of ethics on Human Research of the Universidade do estado do Amazonas (Nº CeP-UeA 363.912/2013). Genomic DNA of 90 male patients (ranging in age from 3 to 23 years old) was analysed for the polymorphism of locus FRAXA, located at the 5’UtR of FMR1 gene. All subjects included in the research were patients diagnosed with non- syndromic ASD, assisted by two specialized multidisciplinary institutions for the care of autistic people in the city of Manaus-Brazil (Centro de educação especial André Vidal de Araújo and espaço de Atendimento Multidisciplinar ao Autista Amigo Ruy). All parents or legal guardians signed a free and informed consent form.
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Transition from Pervasive Developmental Disorders to Autism Spectrum Disorder: Proposed Changes for the Upcoming DSM-5

Transition from Pervasive Developmental Disorders to Autism Spectrum Disorder: Proposed Changes for the Upcoming DSM-5

American Psychiatry Association has scheduled to release The Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) in May 2013. According to the main changes being proposed about autism, there will be one unified Autism Spectrum Disorder diagnosis in the DSM-5 classification. This unified diagnosis will eliminate the distinct diagnostic categories under Pervasive Developmental Disorders in the DSM-IV-TR, namely autistic disorder, Asperger Syndrome, pervasive developmental disorder-not otherwise specified, and childhood disintegrative disorder. Rett Syndrome will be ex- cluded from autism spectrum disorder due to its genetic basis. In addition, severity of symptoms will be measured among individuals with autism spec- trum disorder based on the support level required due to the impairment in their lives. The basic rationale behind this revision is that it is better to con- ceptualize autism as a spectrum including various individuals whose symp- toms in different developmental areas range from mild to severe. It is aimed to increase the specificity of autism diagnosis by using one single diagnostic category with its specified severity rather than differentiating several subtypes. The major concern raised over the DSM-5 proposal has been the possibility that some of the individuals who were diagnosed with pervasive developmen- tal disorder according to the DSM-IV-TR might not get a diagnosis in this new system. After the DSM-5 is released, clinical, legal, and educational rearrengements regarding the use of new autism spectrum disorder diagnostic criteria are expected to accelerate worldwide and in Turkey. This paper aims to review briefly the upcoming autism spectrum disorder diagnosis planned to appear in the DSM-5, the rationale of the proposed revision, main critics to the DSM-5 draft that has been publicized, and some of the regulations ex- pected to occur in practice after the changes.
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Networks of neuronal genes affected by common and rare variants in autism spectrum disorders.

Networks of neuronal genes affected by common and rare variants in autism spectrum disorders.

Autism spectrum disorders (ASD) are neurodevelopmental disorders with phenotypic and genetic heterogeneity. Recent studies have reported rare and de novo mutations in ASD, but the allelic architecture of ASD remains unclear. To assess the role of common and rare variations in ASD, we constructed a gene co-expression network based on a widespread survey of gene expression in the human brain. We identified modules associated with specific cell types and processes. By integrating known rare mutations and the results of an ASD genome-wide association study (GWAS), we identified two neuronal modules that are perturbed by both rare and common variations. These modules contain highly connected genes that are involved in synaptic and neuronal plasticity and that are expressed in areas associated with learning and memory and sensory perception. The enrichment of common risk variants was replicated in two additional samples which include both simplex and multiplex families. An analysis of the combined contribution of common variants in the neuronal modules revealed a polygenic component to the risk of ASD. The results of this study point toward contribution of minor and major perturbations in the two sub-networks of neuronal genes to ASD risk.
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Effects of a dolphin interaction program on children with autism spectrum disorders – an exploratory research

Effects of a dolphin interaction program on children with autism spectrum disorders – an exploratory research

Results: An evaluation protocol consisting of the Childhood Autism Rating Scale (CARS), Psychoeducational Profile-Revised (PEP-R), Autism Treatment Evaluation Checklist (ATEC), Theory of Mind Tasks (ToM Tasks) and a custom-made Interaction Evaluation Grid (IEG) to evaluate behavioural complexity during in-pool interactions was applied to 10 children diagnosed with Autism Spectrum Disorders. The ATEC, ToM Tasks and CARS results show no benefits of the dolphin interaction program. Interestingly, the PEP-R suggests some statistically significant effects on ‘Overall development score’, as well as on their ‘Fine motor development’, ‘Cognitive performance ’ and ‘Cognitive verbal development’. Also, a significant evolution in behavioural complexity was shown by the IEG.
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EXPLORATORY STUDY: STRESS, COPING AND SUPPORT AMONG PARENTS OF CHILDREN WITH AUTISM SPECTRUM DISORDERS

EXPLORATORY STUDY: STRESS, COPING AND SUPPORT AMONG PARENTS OF CHILDREN WITH AUTISM SPECTRUM DISORDERS

The limitations of this research include small and convenient sample. In the future it is recommended longitudinal research on a larger representative sample to reinforce the validity of the results and to study in more detail the effects of family support and coping mechanisms on parenting stress. Further, the results of this research were taken only from the parents. Future research could include using autistic symptoms as an additional variable that affects the parenting stress. Also, there is a small percentage of fathers included in the sample, which we cannot generalize that the results would be applicable on both parents. As a future research recommendation is comparison of the variables stress, coping mechanisms and support between mothers and fathers of children with ASD.
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AUTISTIC CHILDREN PROTECTION SCHEME

AUTISTIC CHILDREN PROTECTION SCHEME

• that an autistic person requires to be followed and every spare moment used to promote and advance the activities the doer commenced himself instead of having him carry out the programs which are beyond his internal motivations and which he finds emotionally inaccessible;

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