Autism Spectrum Disorder

Two studies were conducted to investigate the correlates of hyperlexia in Brazilian Portuguese-speaking children with the diagnosis of autism spectrum disorder (ASD). Study 1 involved 3 groups of school age children individually matched for word reading ability: 6 ASD hyperlexic children, 6 ASD non-hyperlexic children, and 6 typically developing children. Study 2 involved 2 ASD preschool hyperlexic boys, and a group of 21 typical children of similar word reading ability. In both studies, participants were administered several reading measures as well as measures of cognitive and linguistic abilities that have been associated with variations in typical and dyslexic reading, namely, vocabulary, phonological processes, and rapid naming. Results suggest that ASD hyperlexic reading differs from both typical and ASD non-hyperlexic reading. In particular, they suggest that hyperlexics learn to compute letter-sound relations implicitly, on the basis of statistical learning. Although the hyp...

Background Individuals with co-occurring hyperactivity disorder/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) can have complex presentations that may complicate diagnosis and treatment. There are established guidelines with regard to the identification and treatment of ADHD and ASD as independent conditions. However, ADHD and ASD were not formally recognised diagnostically as co-occurring conditions until the Diagnostic and Statistical Manual of Mental Disorders 5 (DSM-5) was published in 2013. Hence, awareness and understanding of both conditions when they co-occur is less established and there is little guidance in the clinical literature. This has led to uncertainty among healthcare practitioners when working with children, young people and adults who present with co-existing ADHD and ASD. The United Kingdom ADHD Partnership (UKAP) therefore convened a meeting of professional experts that aimed to address this gap and reach expert consensus on the topic that wi...

Background An identical homozygous missense variant in EIF3F, identified through a large-scale genome-wide sequencing approach, was reported as causative in nine individuals with a neurodevelopmental disorder, characterized by variable intellectual disability, epilepsy, behavioral problems and sensorineural hearing-loss. To refine the phenotypic and molecular spectrum of EIF3F-related neurodevelopmental disorder, we examined independent patients. Results 21 patients were homozygous and one compound heterozygous for c.694T>G/p.(Phe232Val) in EIF3F. Haplotype analyses in 15 families suggested that c.694T>G/p.(Phe232Val) was a founder variant. All affected individuals had developmental delays including delayed speech development. About half of the affected individuals had behavioral problems, altered muscular tone, hearing loss, and short stature. Moreover, this study suggests that microcephaly, reduced sensitivity to pain, cleft lip/palate, gastrointestinal symptoms and ophthalm...

Introduction: Parenting a child diagnosed with autism spectrum disorder (ASD) is challenging for mothers because of concerns related to behavior, difficulties in accessing specialized care, and lack of community acceptance, yet their stories in Jordanian context are still unknown. Common challenges in Jordan include financial burdens, lack of public awareness, and lack of specialized knowledge even among health care providers, which may lead to delays in obtaining the diagnosis and interventions for ASD. Method: A phenomenological descriptive approach was used to explore and understand the mothers’ everyday lived experiences of raising a child with ASD. Semistructured interviews were conducted with 14 mothers to identify their challenges so that nurses can identify gaps in services, empower families, and facilitate optimum care to these Jordanian families. Findings: The main themes that emerged were (1) mothers’ journeys with the diagnosis, in which mothers recognized the abnormalit...

Both social input and facial feedback appear to be processed differently by individuals with autism spectrum disorder (ASD). We tested the effects of both of these types of input on laughter in children with ASD. Sensitivity to facial feedback was tested in 43 children with ASD, aged 8-14 years, and 43 typically developing children matched for mental age (6-14), in order to examine whether children with ASD use bodily feedback as an implicit source of information. Specifically, children were asked to view cartoons as they normally would (control condition), and while holding a pencil in their mouth forcing their smiling muscles into activation (feedback condition) while rating their enjoyment of the cartoons. The authors also explored the effects of social input in children with ASD by investigating whether the presence of a caregiver or friend (companion condition), or the presence of a laugh track superimposed upon the cartoon (laugh track condition) increased the children's s...

The California Blue Ribbon Commission on Autism’s September, 2007 report identified Autism Spectrum Disorder (ASD) as a ‘public health crisis’ and ‘epidemic’ recommending an “Office of ASD” under Public Health. The Commission also said that health plans should provide “full…” services for ASD. With this, the Commission set the groundwork for a potential misdirection of public health funding, increased litigation, and unnecessary competition between families and providers of children with special needs. Though the report acknowledges that honest differences exist, it then incorrectly asserts that each has equal relevance. Rather than a ‘public health crisis,’ autism should be viewed as a crisis of instruction requiring better coordination of available services and existing knowledge with targeted support for schools, families and community providers.

Neurodevelopmental disorders (NDs) encompass a spectrum of neuropsychiatric manifestations. Chromosomal regions 1q21.1, 3q29, 15q11.2, 15q13.3, 16p11.2, 16p13.1 and 22q11 harbour rare but recurrent CNVs that have been uncovered as being important risk factors for several of these disorders. These rearrangements may underlie a broad phenotypical spectrum, ranging from normal development, to learning problems, intellectual disability (ID), epilepsy and psychiatric diseases, such as autism spectrum disorders (ASDs) and schizophrenia (SZ). The highly increased risk of developing neurodevelopmental phenotypes associated with some of these CNVs makes them an unavoidable element in the clinical context in paediatrics, neurology and psychiatry. However, and although finding these risk loci has been the goal of neuropsychiatric genetics for many years, the translation of this recent knowledge into clinical practice has not been trivial. In this article, we will: (1) review the state of the a...

The research explored the experience and understandings expressed by parents of children with autism concerning ‘meltdowns’, which are commonly described as distressing, escalating episodes of conflicts. Semi-structured interviews were conducted with six parents of children with a diagnosis of autism regarding their experience of ‘meltdowns’. Parents were asked to track the process of the meltdowns as well as to describe their experiences. Three over-arching themes emerged which encapsulated their experience: Living in Dread: Anxiety and fear of escalating patterns, Attempting to Correct for Negative Childhood Experiences and Condemnation from the Self and Others. The findings suggested that the meltdowns were perceived as having an escalating and predictable process, that parents anticipated meltdowns with anxiety, experienced feelings of helplessness and felt condemned by others. Importantly, it also appeared that parents’ responses were influenced by their own childhood experienc...

Purpose Individuals with diagnoses of autism spectrum disorder (ASD) within criminal justice settings are a highly heterogeneous group. Although studies have examined differences between those with and without ASD in such settings, there has been no examination of differences within the ASD group. The paper aims to discuss these issues. Design/methodology/approach Drawing on the findings of a service evaluation project, this paper introduces a typology of ASD within forensic mental health and intellectual disability settings. Findings The eight subtypes that are described draw on clinical variables including psychopathy, psychosis and intensity/frequency of problem behaviours that co-occur with the ASD. The initial assessment of inter-rater reliability on the current version of the typology revealed excellent agreement, multirater Kfree =0.90. Practical implications The proposed typology could improve understanding of the relationship between ASD and forensic risk, identify the most...

Few studies have compared gastrointestinal problems in children with an autism spectrum disorder with and without a history of language regression. A cross-sectional study was conducted with structured interviews in 100 children with autism spectrum disorder, using a gastrointestinal questionnaire and a familial autoimmune questionnaire. By parental report, children with language regression more frequently exhibited an abnormal stool pattern (40% vs 12%, P = 0.006) and had an increased family history of celiac disease or inflammatory bowel disease (24% vs 0%, P = 0.001) and of rheumatoid arthritis (30% vs 11%, P = 0.03). Among 35 children with a family history of autoimmune disease, an abnormal stool pattern was reported more frequently in those with language regression (78% vs 15%, P = 0.001) than in those without. An association was observed between children with language regression, a family history of autoimmune disease, and gastrointestinal symptoms. Additional studies are need...

This study examined the types of social support messages exchanged between parents and/or caregivers of children with Autism Spectrum Disorders (ASDs) who communicate via Facebook (FB); it studies two autism support groups: Autism Malaysia (AM) and Autism Children Club (ACA). A total of 3637 messages including both postings (381) and comments (3256) were gathered from August to November 2013. The study employed a deductive content-analysis approach. The qualitative data were analyzed for social support themes adapted from the Social Support Behavior Code (SSBC). Before collecting the data, email was sent to the FB groups' moderators to gain formal consent from the members. The finding indicated that the highest percentage of messages offered dealt with Informational support (30.7%) followed by Emotional support (27.8%). Network and Esteem support messages were responsible for 20.97% and 20.2%, respectively. Tangible Assistance was the least frequent category (0.4%). A majority of these messages discussed and addressed challenges and difficulties associated with caring and raising ASD children, as well as issues such as children's social lives and self-care routines. Understandings of how FB is used to seek social support could impact supporting and maintaining effective communication among parents and/or caregivers of children with ASDs. This information could also improve approaches used by health professionals in developing, improving and evaluating social support systems for parents/caregivers.

A common theory of autism spectrum disorder (ASD) symptom onset includes toddlers who do not display symptoms until well after age 2, which are termed late-onset ASD cases. Objectives were to analyze differences in clinical phenotype between toddlers identified as ASD at initial evaluations (early diagnosed) versus those initially considered nonspectrum, then later identified as ASD (late diagnosed). Two hundred seventy-three toddlers recruited from the general population based on a failed developmental screening form or parent or physician concerns were followed longitudinally from 12 months and identified as early- and late-diagnosed cases of ASD, language delayed, or typically developing. Toddlers completed common standardized assessments and experimental eye-tracking and observational measures every 9–12 months until age 3. Longitudinal performance on standardized assessments and experimental tests from initial evaluations were compared. Delay in social communication skills was ...

Theory of mind (ToM) is impaired in individuals with autism spectrum disorders (ASD). The aims of this study were to: (i) examine the developmental trajectories of ToM abilities in two different mentalizing tasks in children with ASD compared to TD children; and (ii) to assess if a ToM simple test known as eyes-test could predict performance on the more advanced ToM task, i.e. comic strip test. Based on a sample of 37 children with ASD and 55 TD children, our results revealed slower development at varying rates in all ToM measures in children with ASD, with delayed onset compared to TD children. These results could stimulate new treatments for social abilities, which would lessen the social deficit in ASD.