Diagnostic Criteria For Autism Spectrum Disorder Research Articles

NGS Custom Panel Implementation in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital.

Autism spectrum disorder (ASD) is a set of neurodevelopmental disorders characterized by deficiencies in communication, social interaction, and repetitive and restrictive behaviors. The discovery of genetic involvement in the etiology of ASD has made this condition a strong candidate for genome-based diagnostic tests. Next-generation sequencing (NGS) is useful for the detection of variants in the sequence of different genes in ASD patients. Herein, we present the implementation of a personalized NGS panel for autism (AutismSeq) for patients with essential ASD over a prospective period of four years in the clinical routine of a tertiary hospital. The cohort is composed of 48 individuals, older than 3 years, who met the DSM-5 (The Diagnostic and Statistical Manual of Mental Disorders) diagnostic criteria for ASD. The NGS customized panel (AutismSeq) turned out to be a tool with good diagnostic efficacy in routine clinical care, where we detected 12 "pathogenic" (including pathogenic, likely pathogenic, and VUS (variant of uncertain significance) possibly pathogenic variations) in 11 individuals, and 11 VUS in 10 individuals, which had previously been negative for chromosomal microarray analysis and other previous genetic studies, such as karyotype, fragile-X, or MLPA/FISH (Multiplex Ligation dependent Probe Amplification/Fluorescence in situ hybridization) analysis. Our results demonstrate the high genetic and clinical heterogeneity of individuals with ASD and the current difficulty of molecular diagnosis. Our study also shows that an NGS-customized panel might be useful for diagnosing patients with essential/primary autism and that it is cost-effective for most genetic laboratories.

A Targeted, Low-Throughput Compound Screen in a Drosophila Model of Neurofibromatosis Type 1 Identifies Simvastatin and BMS-204352 as Potential Therapies for Autism Spectrum Disorder (ASD).

Autism spectrum disorder (ASD) is a common neurodevelopmental condition for which there are no pharmacological therapies that effectively target its core symptomatology. Animal models of syndromic forms of ASD, such as neurofibromatosis type 1, may be of use in screening for such treatments. Drosophila larvae lacking Nf1 expression exhibit tactile hypersensitivity following mechanical stimulation, proposed to mirror the sensory sensitivity issues comprising part of the ASD diagnostic criteria. Such behavior is associated with synaptic dysfunction at the neuromuscular junction (NMJ). Both phenotypes may thus provide tractable outputs with which to screen for potential ASD therapies. In this study, we demonstrate that, while loss of Nf1 expression within the embryo is sufficient to impair NMJ synaptic transmission in the larva, constitutive Nf1 knock-down is required to induce tactile hypersensitivity, suggesting that a compound must be administered throughout development to rescue this behavior. With such a feeding regime, we identify two compounds from a targeted, low-throughput screen that significantly and consistently reduce, but do not fully rescue, tactile hypersensitivity in Nf1P1 larvae. These are the HMG CoA-reductase inhibitor simvastatin, and the BKCa channel activator BMS-204352. At the NMJ, both compounds induce a significant reduction in the enhanced spontaneous transmission frequency of Nf1P1 larvae, though again not to the level of vehicle-treated controls. However, both compounds fully rescue the increased quantal size of Nf1P1 mutants, with simvastatin also fully rescuing their reduced quantal content. Thus, the further study of both compounds as potential ASD interventions is warranted.

The Analysis of the Differences between On-screen Portrayals and Realistic Characters of Autism Spectrum Disorder - Take the Example of The Good Doctor in the U.S.

Autism spectrum disorder (ASD) is a prevalent mental disease, but most people do not have enough interaction with individuals on the autism spectrum; they may learn about it through other resources like movies and television shows. Therefore, it is essential to ensure the veracity of ASD character portrayals on screen. Many previous researchers have analyzed the details of the representation of ASD in popular culture, but academic articles focusing only on a particular TV series are scarce. Thus, this research aims to analyze the differences between on-screen portrayals and realistic characters of ASD from the case study of The Good Doctor, which is popular in many countries. This study first records the specifics of ASD portrayals in this television series, then compares them to the DSM-5 criteria for ASD, determines whether these depictions can influence people's understanding, and concludes with suggestions for the depiction of ASD characters in film and TV. The results show that in The Good Doctor, ASD characters frequently tend to be highlighted savant skills and simultaneously represent the four symptoms of the second diagnostic criteria for ASD in DSM-5; besides, specific plot strands like unfortunate experiences tend to be set up. Therefore, to solve these problems, autistic characters can be included in some long-running and popular TV series to influence the public's views sustainably. More incidental ASD characters could also be encouraged to appear on screen to provide various characteristics of ASD. Besides, competent educators can also assist people in viewing these dramas in educational settings.

Screening for Autism Spectrum Disorders in Underserved Populations: Global Versus Specific Surveillance Instruments

Objective: The identification of developmental delays during well-child visits is insufficient with clinical judgment alone (30-50%). Method: We analyzed the usefulness of clustering communication and social-personal areas from neurodevelopmental screening ASQ-3 and Denver II PRUNAPE questionnaires, compared with M-CHAT and ADOS as the initial screening for detection of Autism Spectrum Disorders (ASD) at well-child controls at primary-care settings in lowand middle-income countries (LMIC). Results: One hundred children at the Department of Pediatrics from 12 to 66 months (average: 35 months), were assessed by a developmental pediatrician, trained and supervised by ECHO-model. The assessment was completed with a full assessment for autism with a child neurologist, and a child-juvenile psychiatrist. Thirty-one of 100 children arrived at autism spectrum disorder diagnostic criteria. Conclusion: Failure at ASQ-3 communication plus social-personal clusters was in good agreement with M-CHAT to predict risk criteria for autism compared with a full assessment protocol. Clustering Communication and Personal-Social developmental skills from global screeners were sufficient at the pediatric visits, let differential diagnoses with global developmental delay, and communication developmental disorders. These scales covered a wide range of ages for early identification of children with an autism spectrum disorder in primary care settings within an on-site or online format

Sensory Profile of Children and Adolescents with Autism Spectrum Disorder and Tip-Toe Behavior: Results of an Observational Pilot Study.

Atypical sensory processing is frequently reported in persons with autism spectrum disorders (ASD), and it is one of the described diagnostic criteria for ASD. There is also mounting literature supporting the presence of motor impairments in individuals with ASD. Among these motor signs, tip-toe behavior (TTB) is a possible clinical finding, but its etiology is not clearly understood. It is suggested that TTB in ASD could be a sign of a sensory modulation impairment, but evidence is lacking and controversial. The main aim of this pilot study is to explore sensory features in a sample (4 females; 28 males) of children and adolescents with ASD (age range: 7–18). All participants also presented Intellectual Disability. Participants were divided in two groups, matched for age and gender, on the basis of the presence or absence of TTB (16 ASD TTB group vs. 16 ASD NO-TTB group) and then evaluated by using the Short Sensory Profile. We found that both ASD groups tend to significantly present sensory-related behavioral symptoms, but ASD TTB individuals more frequently showed the specific pattern of “under responsive/seeks sensation” than ASD NO-TTB individuals. These preliminary findings support that sensory-motor features might be taken into consideration when rehabilitation for TTB in children and adolescents with ASD is necessary.

Alterations in brain networks in children with sub-threshold autism spectrum disorder: A magnetoencephalography study.

Individuals with sub-threshold autism spectrum disorder (ASD) are those who have social communication difficulties but do not meet the full ASD diagnostic criteria. ASD is associated with an atypical brain network; however, no studies have focused on sub-threshold ASD. Here, we used the graph approach to investigate alterations in the brain networks of children with sub-threshold ASD, independent of a clinical diagnosis. Graph theory is an effective approach for characterizing the properties of complex networks on a large scale. Forty-six children with ASD and 31 typically developing children were divided into three groups (i.e., ASD-Unlikely, ASD-Possible, and ASD-Probable groups) according to their Social Responsiveness Scale scores. We quantified magnetoencephalographic signals using a graph-theoretic index, the phase lag index, for every frequency band. Resultantly, the ASD-Probable group had significantly lower small-worldness (SW) in the delta, theta, and beta bands than the ASD-Unlikely group. Notably, the ASD-Possible group exhibited significantly higher SW than the ASD-Probable group and significantly lower SW than the ASD-Unlikely group in the delta band only. To our knowledge, this was the first report of the atypical brain network associated with sub-threshold ASD. Our findings indicate that magnetoencephalographic signals using graph theory may be useful in detecting sub-threshold ASD.

Incidence, prevalence, and global burden of autism spectrum disorder from 1990 to 2019 across 204 countries.

Autism spectrum disorder (ASD) substantially contributes to the burden of mental disorders. Improved awareness and changes in diagnostic criteria of ASD may have influenced the diagnostic rates of ASD. However, while data on trends in diagnostic rates in some individual countries have been published, updated estimates of diagnostic rate trends and ASD-related disability at the global level are lacking. Here, we used the Global Burden of Diseases, Injuries, and Risk Factors Study data to address this gap, focusing on changes in prevalence, incidence, and disability-adjusted life years (DALYs) of ASD across the world. From 1990 to 2019, overall age-standardized estimates remained stable globally. Both prevalence and DALYs increased in countries with high socio-demographic index (SDI). However, the age-standardized incidence decreased in some low SDI countries, indicating a need to improve awareness. The male/female ratio decreased between 1990 and 2019, possibly accounted for by increasing clinical attention to ASD in females. Our results suggest that ASD detection in low SDI countries is suboptimal, and that ASD prevention/treatment in countries with high SDI should be improved, considering the increasing prevalence of the disorder. Additionally, growing attention is being paid to ASD diagnosis in females, who might have been left behind by ASD epidemiologic and clinical research previously. ASD burden estimates are underestimated as GBD does not account for mortality in ASD.

Classification Comparison: Autism Spectrum Rating Scale and the ADOS-2 in an Underserved Rural Appalachian Setting

ABSTRACT Introduction With the increasing prevalence of Autism Spectrum Disorder (ASD) in recent years, there has been a significant interest in diagnostic accuracy and patterns of autism. Behavior checklists, such as the Autism Spectrum Rating Scale (ASRS), are widely used in psychological evaluations, and while some evidence supports their use in autism assessment, there is some question about their validity, especially when compared to comprehensive measures and behavioral observations. Method The current study used ADOS-2 diagnostic classifications as a measure of “ADOS-2 ASD” and compared this classification to ASRS parent and teacher ratings, with an aim of assessing the discriminant (diagnostic) validity of the ASRS. Results Analyses indicated that parent and teacher ASRS report scores were not significantly different for individuals with and without autism as indicated by ADOS-2 classification. Conclusion Implications of this preliminary research as well as future directions are suggested, including a concern that the ASRS may not provide the specific information needed to assist clinicians in differentiating between children who do or do not meet ASD diagnostic criteria.

Autism Spectrum Disorder Diagnostic Criteria Changes and Impacts on the Diagnostic Scales-Utility of the 2nd and 3rd Versions of the Gilliam Autism Rating Scale (GARS).

There is joint agreement among professionals internationally on the importance of diagnosing autism spectrum disorders (ASD) in the early stages of the emergence of symptoms. Criteria changes for the diagnosis of ASD need updated versions of the scale to make the diagnosis feasible. This study aimed to evaluate the level of overlap between two different versions of the Gilliam Autism Rating Scale (GARS-2 and GARS-3), which have been updated based on changes in DSM-IV and DSM-5 on a Kurdish sample of individuals at risk of having ASD and Intellectual Disability, referred to the Bahoz center in the Kurdistan Region of Iraq. A group of 148 cases with ASD and developmental disabilities (DD) was evaluated using the 2nd and 3rd versions of the GARS scale to understand the level of cases that confirm an ASD diagnosis in both scales. Ninety-six individuals (65%) scored about the cut-off score for being diagnosed with ASD based on the GARS-2, and 137 individuals (93%) scored above the cut-off score based on the GARS-3. Moreover, keeping updated and meeting the changing demand of standardization and cultural suitability of the updating scales is a challenge. This challenge is due to the shortage of infrastructure sources and lack of established professionals in low- and middle-income countries (LMICs). Findings indicated that GARS-3, updated based on the DSM-5, tends to diagnose children with accompanying diagnoses and different levels of symptoms severity of ASD at different age levels. Further studies are needed to help professionals and policymakers in low- and middle-income countries understand the updated versions of the available scales and depend on the older version, which must be considered cautiously.

Parental Stress of Children with Autism Spectrum Disorder During the Coronavirus Pandemic (COVID-19): Experience from Serbia.

Taking care of children with autism spectrum disorder (ASD), as of children with other developmental disorders, is associated with greater parental stress. The aim of this study was to determine the prevalence and impact of integrative and co-morbid ASD-related symptoms on parental stress levels during the COVID-19 pandemic at four time points. Testing was performed during significant changes related to the state of the COVID-19 pandemic in Serbia. The research sample included 67 parents of children with ASD 4 to 7 years and 6 months of age. The Autism Parenting Stress Index, Gilliam Autism Rating Scale - Third Edition, diagnostic criteria for ASD from DSM-5 and Wechsler Preschool and Primary Scale of Intelligence - Fourth Edition were used to assess the tested abilities. Core behavior (problems of social development and communication skills) as well as co-morbid behaviors related to ASD (tantrums, aggressive behavior, self-injurious behavior and difficulties with transitions) caused the highest degree of parental stress. Post hoc tests that used Bonferroni correction found that parental stress caused by basic and co-morbid behaviors gradually decreased from first to fourth measurement, respectively. Sleep and toilet training problems, as well as co-morbid physical problems, caused the greatest degree of parental stress during the first measurement. Measuring total parental stress caused by integrative and co-morbid symptoms related to ASD showed that it was at the highest level during the first measurement, decreased during the second measurement and remained unchanged during the third and fourth measurements. Time, as a repeating factor, during the COVID-19 pandemic has an effect on lowering the levels of parental stress caused by all examined ASD-related domains. These results may be useful in creating individual programs to support parents of children with ASD during the COVID-19 pandemic.

A Critical Period for Development of Cerebellar-Mediated Autism-Relevant Social Behavior.

The cerebellum has been increasingly implicated in autism spectrum disorder (ASD) with many ASD-linked genes impacting both cerebellar function and development. However, the precise timing and critical periods of when abnormal cerebellar neurodevelopment contributes to ASD-relevant behaviors remains poorly understood. In this study, we identify a critical period for the development of ASD-relevant behaviors in a cerebellar male mouse model of tuberous sclerosis complex (TSC), by using the mechanistic target of rapamycin (mTOR) inhibitor, rapamycin, to pharmacologically inhibit dysregulated downstream signaling. We find independent critical periods during which abnormal ASD-relevant behaviors develop for the two core ASD diagnostic criteria, social impairments and behavioral flexibility, and delineate an anatomic, physiological, and behavioral framework. These findings not only further our understanding of the genetic mechanisms underlying the timing of ASD-relevant behaviors but also have the capacity to inform potential therapies to optimize treatment interventions.SIGNIFICANCE STATEMENT No targeted treatments currently exist for autism spectrum disorder (ASD). This complex developmental disorder has established links to genetic and circuit aberrations, yet the precise timing and coordination of these underlying mechanisms that contribute to the spectrum of physiological and behavioral abnormalities remains unclear. Cerebellar pathology is consistently seen in ASD individuals; therefore, we sought to identify the specific windows for cerebellar involvement in the development of ASD-relevant behaviors. Using pharmacologic treatment paradigms, we outline distinct critical periods of developmental vulnerability for ASD-relevant social and inflexible behaviors. From this study, we posit a refined window of time during which ASD symptoms develop that will inform therapeutic timing.

Sex Differences in Autism: Examining Intrinsic and Extrinsic Factors in Children and Adolescents Enrolled in a National ASD Cohort.

Discernment of possible sex-based variations in presentations of autism spectrum disorder (ASD) symptoms is limited by smaller female samples with ASD and confounds with ASD ascertainment. A large national cohort of individuals with autism, SPARK, allowed parent report data to be leveraged to examine whether intrinsic child characteristics and extrinsic factors differentially impact males and females with ASD. Small but consistent sex differences in individuals with ASD emerged related to both intrinsic and extrinsic factors, with different markers for males and females. Language concerns in males may make discernment of ASD more straightforward, while early motor concerns in females may hamper diagnosis as such delays are not identified within traditional ASD diagnostic criteria.

The effects of social and non-social distracting stimuli on dogs with different levels of social competence – Empirical evidence for a canine model of autism

The dog (Canis familiaris) has been proposed as a model of numerous human psychiatric diseases, including autism spectrum disorder (ASD). A recent account of the mechanisms underlying autistic behaviour in humans suggests that the core social symptoms of autism are rooted in impaired social motivation. Here we aimed to investigate the plausibility of this motivational explanation in dogs – that is, to study whether a decrease in social motivation (specifically, in the attentional weight assigned to social stimuli) is related to ASD-like behaviours in dogs. Based on the diagnostic criteria of ASD, we have developed a questionnaire (Interspecific Social Responsiveness Survey – ISRS) to assess those aspects of social skills in dogs that may relate to ASD-like behaviours. Analysis of the responses was carried out using a sample of 1343 dogs, and the exploratory factor analysis of the 26 items produced a three-factor solution accounting for 41.3% of the variance. A subsample of subjects (N = 20 adult dogs with varying ISRS scores) were then trained to use a touchscreen in a visual cue-response association task. During the test phase, dogs had to perform the same motor task (nose poke response) while exposed to non-social and social distracting stimuli (10 trials in a semi-random order). The behavioural performance of the dogs (measured by looking times and response latency) with different levels of social competence varied in terms of how they responded to the distracting stimuli. The pattern of results revealed that subjects with higher level of social competence showed a stronger distinction between the social and non-social distractors, manifesting in increased looking at the social (but task-irrelevant) stimulus and in reduced orientation toward the touchscreen. Our findings correspond with those previously found in human ASD studies, and further confirm the idea that domestic dogs represent a promising model for the study of human-analogue forms of social-motivational deficits.

Assessment of the knowledge and awareness of pediatric residents and pediatricians about autism spectrum disorder at a single center in Turkey.

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder and pediatricians play a critical role in early diagnosis. This study was conducted to evaluate the knowledge, beliefs, and experiences of pediatric residents and pediatricians about ASD. A 35-item questionnaire consisting of two sections was administered. The diagnostic features section consisted of questions measuring the level of knowledge about diagnostic criteria of ASD. The general knowledge and beliefs section consisted of questions about beliefs and experiences regarding ASD. The study consisted of 101 participants. Mean score obtained by all participants from the diagnostic features section was 5.78 ± 1.65. The mean scores obtained by residents and pediatricians from the diagnostic features section were 5.35 ± 1.5 and 6.31 ± 1.68. Pediatricians obtained higher scores significantly than residents from diagnostic features section (t = -2.99, p = 0.004). The mean scores obtained by residents and pediatricians from section of general knowledge and beliefs were 13.69 ± 3 and 14.48 ± 3.15. This difference was not significant (t = -1.27, p = 0.225). This study suggests that participants' knowledge and awareness about ASD was insufficient and while pediatricians knew more about the diagnostic criteria, their awareness and approach regarding ASD were no different from pediatric residents in general practice.

Autism as a Global Challenge: Examining the Increased Childhood Prevalence of Autism

Autism Spectrum Disorders (ASD) are a spectrum of conditions that are generally characterized by language deficits, restricted interests, social communication impairments, motor deficits, and repetitive behaviours. This paper examined the increased childhood prevalence of autism globally by analyzing studies conducted in specific countries through three underlying research aims. The aims are to determine the prevalence and diagnostic criteria of ASD within countries, to find out the international explanations for the increased prevalence of ASD, and to establish the extent of epidemiological consistencies between countries. Although the findings generally paint a picture of an increased ASD prevalence, researchers fail to agree on the reasons for this. Several countries that do not report this increase attribute the inconsistency to a lack of reliable studies. Further research is necessary to establish the link between cultural behaviours and beliefs to the prevalence rates, and also to provide a substantiated and definitive etiology of ASD.

ШЛЯХИ ОПТИМІЗАЦІЇ ВХОДЖЕННЯ ДІТЕЙ З ОСОБЛИВИМИ ОСВІТНІМИ ПОТРЕБАМИ В СОЦІАЛЬНЕ СЕРЕДОВИЩЕ ЗАКЛАДУ ДОШКІЛЬНОЇ ОСВІТИ

The article shows that autism is adevelopmental disorder of the child thatpersists for life. However, thanks totimely diagnosis and early correctiveassistance, much can be achieved: toadapt the child to life in society; teachhim to cope with his fears; controlemotions. The problem of autism iscaused not only by the high frequencyof this developmental pathology, butalso by a significant percentage ofchildren with disabilities. It has beendetermined that the reason for this is thelack of timely comprehensive medical,psychological and pedagogicalassistance to children with autism andinsufficient socio-pedagogical impact onthe microenvironment in which they findthemselves. All of the above requiresthe use of modern methods ofpsychological correction andcounseling, the latest recommendationsand a large number of qualifiedspecialists and experts. The creation ofsuch an environment, which consists ofpsychological and pedagogicalconditions, means of correction, thecontent of programs individuallyoriented to the child, the competence ofstaff, is the key to effective upbringingand education of children with aspectrum of autistic disorders. In thisregard, we consider it appropriate toanalyze and propose individualmethods of psychological correction ofautism spectrum disorder in children.Speech and communicationimpairments in general are among themain diagnostic criteria for autismspectrum disorder (ASD). Theseproblems are becoming a significantobstacle to the socialization of thiscategory of children. There is a violationof the perception of not only verbalspeech, but also non-verbal stimuli(facial expressions, gestures,intonation). Therefore, to facilitate theprocess of communication with a child,they use means of alternativecommunication, in the process ofapplying which most concepts arevisualized using pictograms, drawings,symbols, photographs, real objects.Often, auxiliary communicationstimulates the development of verbalspeech in children, but in the generalnumber of cases, the alternativecommunication system is the only wayto establish social contact with a childwith ASD.

Association Between Celiac Disease and Autism Spectrum Disorder: A Systematic Review.

The aim of the study was to perform a systematic review assessing the research investigating the association between celiac disease (CD) and autism spectrum disorder (ASD). A literature search of MEDLINE and EMBASE was performed without limits placed on year or language. Observational studies reporting on the occurrence of CD among patients with ASD and/or the occurrence of ASD among patients with CD were included. Study design, characteristics, diagnostic criteria for ASD and CD, and the frequency of positive cases in the studied sample were recorded. Study quality was assessed using an adapted Newcastle-Ottawa Quality Assessment Scale. Due to substantial heterogeneity between studies, a meta-analysis was not performed. Of the 298 unique citations identified within our search strategy, 17 articles evaluating the association between CD and ASD were included. Of those articles, 13 observed samples of patients with ASD, and 6 observed samples of patients with CD. Overall, most studies had small sample sizes and reported no evidence for an association between the 2 conditions. However, a limited number of population-based studies of higher quality suggested a potential association between CD and ASD. Most studies assessing an association between CD and ASD are at risk for systematic and/or random error. A potential link has, however, been shown in a handful of high-quality studies, and, therefore, this comorbidity cannot be ruled out. Future studies should recruit larger sample sizes, include precise definitions of CD and ASD, and exclude patients with ASD on a gluten-free diet.

Video-Based Training in Recognizing Exemplars of Autism Spectrum Disorder Diagnostic Criteria.

Autism Spectrum Disorder (ASD) is an increasingly common neurodevelopmental disorder with long-term and pervasive effects. Despite the benefits of early diagnosis, research suggests that training in recognizing the behavioral markers of ASD and the fundamentals of ASD diagnosis are not routinely provided to prospective child clinicians. As a means to train students in recognizing exemplars of behavior consistent with ASD diagnostic criteria, we created a video library of brief clips of children and adults with and without ASD who varied on multiple dimensions (e.g., sex, ethnicity, language skills, developmental level). Using clips from the library, we developed a brief training program to instruct students on diagnostic criteria for ASD and how to recognize examples of these behaviors in children. A randomized experimental trial compared the impact of the video-based training program delivered via the Internet to conventional graduate-level textbook training. Although both textbook and video-based training groups improved in their identification of ASD behaviors, the video-based training group significantly outperformed the textbook-based training group at posttest. The creation of a video library that can be incorporated into remote access training is a promising means of allowing students to view a range of presentations of a disorder even when direct access to a diverse set of clients may be difficult.

Copy number variations of SHANK3 and related sensory profiles in Egyptian children with autism spectrum disorder

BackgroundCurrent estimates indicate that >80 % of children with autism spectrum disorder (ASD) exhibit concomitant sensory processing problems and hyper- or hypo-reactivity to sensory input. These are now included as diagnostic criteria for ASD in the Diagnostic and Statistical Manual of Mental Disorders—Fifth Edition. Chromosomal rearrangements, copy number variations (CNVs), and coding sequence variants involving >100 genes have been identified in patients with ASD. Studying the CNVs of one such gene, SHANK3, and the associated phenotype in patients with ASD could provide insights that will guide future ASD treatments and interventions. ObjectiveTo assess SHANK3 CNVs in children with ASD and investigate their sensory processing patterns using the Short Sensory Profile (SSP). Subjects and methodsForty children with ASD were assessed using the Autism Diagnostic Interview-Revised. SSP was used to evaluate atypical sensory behavior, e.g., hyper- or hypo-reactivity to sensory input or unusual sensory interests. SHANK3 CNVs were assessed in these children using Multiplex Ligation-dependent Probe Amplification. ResultsOf the 40 cases, 77.5 % showed sensory reactivity symptoms. The greatest difference from normality was observed in the under-responsive/seeks sensation domain, followed by the tactile sensitivity domain, whereas hypo-activity (low-energy/weak domain) was closest to normal. The sensory reactivity symptoms were significantly correlated with the severity of ASD. However, only three of the 40 cases had de novo duplications at 22q13.33. The duplications included SHANK3 in two of the cases and only the distal flanking region of SHANK3 in the third case. All three duplication cases also showed symptoms associated with the low-energy/weak domain. ConclusionWe found that children with ASD exhibited sensory processing problems. The SHANK3 copy number gains found demonstrate the gene dosage effect of SHANK3 in ASD pathogenesis. This study adds to the growing understanding of 22q13 duplications that include SHANK3.

PedsQL-4.0 in children with Autism Spectrum Disorder

Autism Spectrum Disorder (ASD) is a neuro developmental disorder in DSM-5, characterized by social deficits and communication difficulties, stereotyped or repetitive behaviours and interests, sensory issues, and in some cases, cognitive delays. Prevalence of ASD is ever increasing recently throughout the world. There aren’t enough studies which have considered the qualities of life (QoL) of Autistic children through there are many comparing the QoL of parents of children with ASD. Hence there is need for more research on the quality of life of autistic children. The diagnostic criteria for ASD are available in the revised text edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-V) of the American Psychiatric Association. This study assesses the Paediatric Quality of Life (PQOL) of ASD children, from a multidimensional perspective based on the Cross-sectional survey which considered Physiological function, emotional function, social function and school performance. This study aimed to evaluate the QoL of children with ASD aged 2–12 years. 98 autistic children (male: 69, female: 29; 2- 4 years old: 40, 5- 7 year old: 43, 8 - 12 years old: 15) and 100 normal children (control group) are brought into this study. The children satisfying the DSM-5 as ASD were subjected to assessment of their QoL with Pediatric Quality of Life Inventory (PedsQL) questionnaire by their parents, compared with standard scores. Present study shows lower scores in the test group on the PedsQL4.0 universality Core scale in comparison with the control group. Behaviour issues had a negative effect on Community adaptation, mental health, a lower intelligence-related quality of life for children and clinically significant autistic symptoms in comparison with children with fewer symptoms. Results suggest greater impairment in adaptive functioning and emotional disorders. For mild-moderate ASD children, better development probably played a significant role in response to rehabilitation, to achieve and maintain the best level of overall outcome. The severity of the disorder and coping strategies in social settings were related to self-care ability and adaptation and intelligence. Hence pediatricians are must evaluate these children for early interventions and medications, if needed, and have QoL integrated in the overall care plan.