Autism

Individuals with autism spectrum disorder (ASD) often exhibit disordered speech prosody, but sources of disordered prosody remain poorly understood. We explored patterns of temporal alignment and prosodic grouping in a speech-based metronome repetition task as well as manual coordination in a drum tapping task among Cantonese speakers with ASD and normal nonverbal IQ and matched controls. Results indicate similar group results for prosodic grouping patterns, but significant differences in relative timing and longer syllable durations at phrase ends for the ASD group...

Williams-Beurens syndrome (WBS) is a rare genetic disorder caused by a recurrent 7q11.23 microdeletion. Clinical characteristics include typical facial dysmorphisms, weakness of connective tissue, short stature, mild to moderate intellectual disability and distinct behavioral phenotype. Cardiovascular diseases are common due to haploinsufficiency of ELN gene. A few cases of larger or smaller deletions have been reported spanning towards the centromeric or the telomeric regions, most of which included ELN gene...

This study tested whether the effect of treatment intensity or treatment style on children's frequency and maturity of spontaneous communication varied by initial severity of disability. Eighty-seven toddlers with autism spectrum disorders were randomly assigned to either (a) 15 hrs per week of discrete trial teaching (DTT), (b) 25 hrs per week of DTT, (c) 15 hrs per week of a naturalistic developmental behavioral intervention (NDBI), or (d) 25 hrs per week of NDBI. Trained research staff implemented the 1:1 treatments in homes or educational centers over 12 months...

Autism spectrum disorder (ASD) is a neurodevelopmental disorder requiring significant health and educational resources for affected individuals. A reference standard for ASD was generated from an existing population-based cohort of 10,000 children and youth aged 1-24 years who were randomly selected for chart abstraction from 29,256 patients from 119 family physicians. We developed and validated an algorithm to identify children and youth with ASD within an electronic medical record system (N = 80,237, aged 1-24 years) in order to examine the prevalence of comorbidities and quantify health system utilization within the cohort...

We analyzed data on 879,029 children born in 1999-2017 from a large Israeli health fund to evaluate time-trends in incidence of autism spectrum disorder (ASD). This included examining possible effects associated with the adaptation of the DSM-5 criteria for ASD, and the implementation of regulatory changes affecting eligibility for ASD-related stipends and services. ASD cases were ascertained based on electronic medical records review, with complete verification of ASD case status. Results indicated a substantial increase in ASD incidence rate (IR) over time that was overall not appreciably affected by the above changes...

Northern Italy was dramatically affected by COVID-19 during early 2020. Suspending educational and rehabilitation services during the lockdown that followed increased the burden on the parents of children with special healthcare needs, including those diagnosed with autism spectrum disorder, psychomotor delays and other neurodevelopmental disabilities. In this context, the parents had to provide round-the-clock care, without direct access to local services and healthcare specialists. Assuring continuity of family-centred care was a key priority during lockdown...

The study aimed to identify the mediating role of emotional intelligence and social competences in the relationship between gender and broad autism phenotype (BAP) as well as between age and BAP. It comprised 85 parents of children with ASD. They completed the questionnaires of Autism-Spectrum Quotient, social competences, and emotional intelligence. The results revealed that emotional intelligence in general and its two dimensions: the ability to accept and express emotions and to empathize are important mediators of the relationship between gender and BAP...

BACKGROUND: Autism spectrum disorder ("autism") is a highly heterogeneous neurodevelopmental condition with few effective treatments for core and associated features. To make progress we need to both identify and validate neural markers that help to parse heterogeneity to tailor therapies to specific neurobiological profiles. Atypical hemispheric lateralization is a stable feature across studies in autism, but its potential as a neural stratification marker has not been widely examined...

BACKGROUND: CUL3 encodes cullin-3, a core component of a ubiquitin E3 ligase. CUL3 mutations have recently been associated with autism spectrum disorder (ASD); however, the detailed clinical courses have been described in only a limited number of patients with CUL3 mutations and neurodevelopmental diseases, including ASD. CASE REPORT: A 21-month-old Japanese girl presented with febrile status epilepticus and thereafter exhibited developmental regression, including loss of her verbal ability, eye contact, and skills in activities of daily living...

Finely tuned excitation-inhibition balance is essential for proper brain function, and loss of balance resulting from reduced synaptic inhibition is associated with neurological disorders. Savardi and colleagues have discovered a novel inhibitor of a cation-chloride transporter that is required for synaptic inhibition, and which restores behaviors associated with Down syndrome (DS) and autism spectrum disorder (ASD).

Considering that the average age for diagnosis of autism spectrum disorder (ASD) is 4-5 years, testing screening methods for ASD risk in early infancy is a public health priority. This study aims to identify the risks for development of ASD in children born prematurely and hospitalized in a neonatal intensive care unit (NICU) and explore the association with pre-, peri- and postnatal factors. Methods : The children's families were contacted by telephone when their child was between 18 and 24 months of age, to apply the Modified Checklist for Autism in Toddlers (M-CHAT)...

BACKGROUND: Individuals with autism spectrum disorder (ASD) and intellectual disability (ID) more frequently experience potentially traumatic events (PTEs), and may be more vulnerable to trauma-related symptoms. However, it is unclear how such symptoms are captured on tools used for behavioural and psychiatric assessment in this population. AIMS: To explore whether and how PTEs are associated with symptom reports in adults with ASD and ID. METHODS AND PROCEDURES: Associations and group differences for death of a close relative and serious disease/injury in a close relative/caregiver/friend were explored in a clinical sample of 171 adults with ASD and ID referred for psychiatric assessment...

BACKGROUND: Research shows that parents of children with autism spectrum disorder (ASD) are burdened with childcare responsibilities and at increased risk for elevated stress and poor family quality of life (FQOL). Little is known, however, about the dynamic interactions between mothers' and fathers' perceived parenting stress in relating to parental involvement and FQOL, especially in the Chinese cultural context. AIMS: This study examined the intrapersonal and interpersonal effects of parenting stress on parental involvement and FQOL for families of children with ASD in mainland China...

We recently contributed to the description of eight individuals with a novel condition caused by 16p13.3 microdeletions encompassing TBC1D24, ATP6V0C, and PDPK1 and resulting in epilepsy, microcephaly and neurodevelopmental problems. The phenotypic spectrum, the minimum overlapping region and the underlying disease mechanism for this disorder remain to be clarified. Here we report a 3.5-year-old male, with microcephaly, autism spectrum disorder and a de novo 16p13.3 microdeletion. We performed detailed in silico analysis to show that the minimum overlapping region for the condition is ~80Kb encompassing five protein coding genes...

Caring for an individual with autism spectrum disorder (ASD) in ideal circumstances can be stressful, and the Coronavirus disease (COVID-19) pandemic created a high degree of disruption to life and stress to families living with an individual with ASD. We conducted an online survey of families in Michigan that revealed higher levels of stress in caregivers of younger individuals with ASD and those with greater severity of ASD symptoms. Stress around therapeutic service disruption, finances, and illness predominated and greater stress was reported for caregivers of individuals receiving greater intensity of services pre-COVID-19...

Exome sequencing is a prominent tool to identify novel and deleterious mutations which could be non-sense, frameshift, and canonical splice-site mutations in a specific gene. De novo mutations in SYNGAP1, which codes for synaptic RAS-GTPase activating the protein, causes Intellectual disability (ID) and Autism Spectrum Disorder (ASD). SYNGAP1 related ASD/ID is one of the rare diseases that are detrimental to the healthy neuronal developmental and disrupts the global development of a child. We report the first SYNGAP1 heterozygous patient from Indian cohort...

Early diagnosis of autism spectrum disorder (ASD) is of paramount importance as it opens the road to early intervention, which is associated with better prognosis. However, early diagnosis is often delayed until preschool or school age. The purpose of the current retrospective study was to explore the age of recognition of first alarming symptoms in boys and girls as well as the age at diagnosis of different subtypes of ASD in a small sample. A total of 128 parents' of children with ASDs were participated in the survey by completing a self-report questionnaire about early signs and symptoms that raised their concern...

The American Academy of Pediatrics recently published clinical guidelines for evaluation and management of children and adolescents with Autism Spectrum Disorder (ASD), nearly 12 years after the previous version. This article outlines salient features, highlights significant differences from the 2007 version, and discusses implications for Indian professionals dealing with affected families.

Aims were to: (1) investigate the parental difficulties toward their ASD children dental care and, (2) analyze factors influencing their access to such services. Questionnaires were completed by 142 mothers of ASD children. Children aged between 2.5 and 14 years old, with 3.9:1 male to female ratio. 68.3% perceived difficulties in finding dental care. Most barriers were: Cost (75.4%), finding a dentist to treat ASD child (74.6%), and behavior of their ASD child (45.1%). There was no difference among age and "difficulty finding dental care" (p = 0...

Background: Children with autism spectrum disorder (ASD) and intellectual disability (ID) are an understudied population whose school inclusion is challenging. Methods: We assessed the effects of "Developmental and Sequenced one-to-one Educational Intervention" (DS1-EI), a ten-hour-per-week adapted instruction programme for five- to nine-year-old children with ASD and ID treated in outpatient health care institutions. A single-blind multisite randomized controlled trial was conducted to compare DS1-EI given for three years with treatment as usual (TAU)(trial registration numbers: ANSM130282B-31 (April 16, 2013) and ACTRN12616000592448)...