Down syndrome, Down's syndrome, ASD, autism, autistic

BACKGROUND: Phenotypic studies have identified distinct patterns of autistic characteristics in genetic syndromes associated with intellectual disability (ID), leading to diagnostic uncertainty and compromised access to autism-related support. Previous research has tended to include small samples and diverse measures, which limits the generalisability of findings. In this study, we generated detailed profiles of autistic characteristics in a large sample of > 1500 individuals with rare genetic syndromes...

The aim of this study was to investigate the level of dental care access among children with special health care needs (CSHCN) in Jeddah, Saudi Arabia and the barriers hindering this access. Data of this cross-sectional study were obtained from self-administered surveys distributed through seven CSHCN centers. Children with autistic spectrum disorder (ASD), Down syndrome, cerebral palsy, and developmental delay were included. Univariate and bivariate analyses were conducted to describe the data. A total of 602 study participants were included in the analyses...

This study aimed to learn about the experiences of families of individuals with a dual diagnosis of Down syndrome (DS) and autism spectrum disorder (ASD) (DS-ASD), and to document the journey from early concerns to diagnosis and intervention. Caregivers completed an online survey describing their journey raising a child with DS-ASD. Survey responses were analyzed qualitatively and coded into categories to highlight common themes. Stereotypy, severe communication impairments, and behavioral difficulties prompted caregivers to pursue further evaluation...

Background and aims: Previous studies suggest that syntactic development in children with intellectual disabilities (ID) is positively correlated with verbal short-term memory (VSTM). This study investigated the characteristics of syntactic development and their relationships of VSTM in children with ID based on type. Methods: The participants were children with ID ( N  = 34), including 14 children with autism spectrum disorders (ASD), 20 with Down syndrome (DS), with chronological ages from 8 years 10 months to 18 years 4 months and nonverbal mental ages (MA) of over 4 years, and typically developing (TD) children ( N  = 21) with chronological ages from 5 years 0 months to 5 years 10 months...

Sleep problems are common in children and adolescents, particularly those with Neurodevelopmental Disorders. With the changes in daily habits resulting from the COVID-19 pandemic, we have analyzed sleep characteristics, during social isolation, in Brazilian children and adolescents aged between 4 and 12 years with Autism Spectrum Disorder (N = 267), Down Syndrome (N = 74), and typical development (N = 312). The ASD group presented with worse indicators of sleep habits in the Children's Sleep Habits Questionnaire (CSHQ-BR) and fell asleep later during the pandemic...

Autism spectrum disorder (ASD) is a heritable neurodevelopmental disorder with the underlying etiology yet incompletely understood and no cure treatment. Patients of fragile X syndrome (FXS) also manifest symptoms, e.g. deficits in social behaviors, that are core traits with ASD. Several studies demonstrated that a mutual defect in retinoic acid (RA) signaling was observed in FXS and ASD. However, it is still unknown whether RA replenishment could pose a positive effect on autistic-like behaviors in FXS. Herein, we found that RA signaling was indeed down-regulated when the expression of FMR1 was impaired in SH-SY5Y cells...

The present study examined the role of IQ and the Theory of Mind understanding in children with an autism spectrum disorder and down syndrome. Sixty-six Swedish children with ASD (n = 26), DS (n = 18), and typically developed group (n = 22) ranged between 6 and 12 years old were compared on ToM tasks consisted of standard ToM and IQ tasks. SPSS 25 program was used to analyze data. The results indicated that individuals with ASD reach a better understanding of first-order ToM tasks than children with DS...

This work introduces a new socially assistive robot termed MARIA T21 (meaning "Mobile Autonomous Robot for Interaction with Autistics", with the addition of the acronym T21, meaning "Trisomy 21", which is used to designate individuals with Down syndrome). This new robot is used in psychomotor therapies for children with Down syndrome (contributing to improve their proprioception, postural balance, and gait) as well as in psychosocial and cognitive therapies for children with autism spectrum disorder. The robot uses, as a novelty, an embedded mini-video projector able to project Serious Games on the floor or tables to make already-established therapies funnier to these children, thus creating a motivating and facilitating effect for both children and therapists...

Background : Autism spectrum disorder (ASD) may coexist with Down syndrome (DS). Most studies on this topic involve school-age children, adolescents, or adults with DS. This study looked at ASD symptoms, other mental health problems, and challenging behaviors in toddlers with DS at low risk of ASD. Methods : We used screening tools for autism in toddlers; BISCUIT-Parts 1-3 and Q-CHAT. We compared four groups of children aged 17-37 months: DS, ASD, Atypical Development (AD), and Typically Developing (TD). Results : Children with DS showed lower symptoms of ASD than children with ASD (without DS) and higher than TD children, except for repetitive behaviors/restricted interests...

The current study explores functioning in individuals with co-occurring Autism Spectrum Disorder and Down Syndrome (ASD+DS; n = 23), individuals with ASD and cognitive impairment (ASD+ID; n = 99) and individuals with idiopathic ID (n = 38). ANCOVA results revealed that individuals with ASD+DS showed strengths in behavioral functioning compared to individuals with ID and more similar behavioral functioning to those with ASD+ID (η2  = 0.12), with the exception of disruptive behaviors. Cognitive functioning (ɸc  = 0...

Autism spectrum disorder (ASD) is a neurodevelopmental disorder in which evidence reveals oxidative stress and transsulfuration pathway abnormalities. Down syndrome (DS) is a genetic disorder characterized by similar oxidative stress and transsulfuration pathway abnormalities. This hypothesis-testing longitudinal cohort study determined whether transsulfuration abnormalities and oxidative stress are important susceptibility factors in ASD etiology by evaluating the rate of ASD diagnoses in DS as compared to the general population...

Our primary objective was to describe demographic characteristics and enrollment patterns in a unique 11-year full sample of adult Wisconsin Medicaid beneficiaries with identified autism spectrum disorder (ASD) or intellectual disability (ID). We obtained de-identified Medicaid claims data for adults with a recorded ASD or ID diagnosis aged 21 and older with any Medicaid fee-for-service claims between January 1, 2008 and December 31, 2018. We assessed enrollment, age, number of visits, and paid amount per year using generalized linear models with a random intercept for each beneficiary...

Aims: Autism spectrum disorder (ASD) refers to a group of heterogeneous brain-based neurodevelopmental disorders with different levels of symptom severity. Given the challenges, the clinical diagnosis of ASD is based on information gained from interviews with patients' parents. The heterogeneous pathogenesis of this disorder appears to be driven by genetic and environmental interactions, which also plays a vital role in predisposing individuals to ASD with different commitment levels. In recent years, it has been proposed that epigenetic modifications directly contribute to the pathogenesis of several neurodevelopmental disorders, such as ASD...

BACKGROUND: Recent research suggests that around 16% to 18% of children with Down syndrome (DS) also meet diagnostic criteria for autism spectrum disorder (ASD). However, there are indications that profiles of autism symptoms in this group may vary from those typically described in children with ASD. METHOD: Rates of autism symptoms and emotional and behavioural problems among children with DS who screened positive for ASD on the Social Communication Questionnaire (SCQ) (n = 183) were compared with a group of children with clinical diagnoses of ASD (n = 189) attending specialist schools in the UK...

Autism is a heterogeneous developmental disorder characterized by impaired social interaction, impaired communication skills, and restricted and repetitive behavior. The abnormal behaviors of these patients can make their anesthetic and perioperative management difficult. Evidence in the literature suggests that some patients with autism or specific autism spectrum disorders (ASD) exhibit altered responses to pain and to anesthesia or sedation. A genetic mouse model of one particular ASD, Phelan McDermid Syndrome, has been developed that has a Shank3 haplotype truncation (Shank3+/Δc )...

SH3 and multiple ankyrin repeat domains 3 (SHANK3) haploinsufficiency is causative for the neurological features of Phelan-McDermid syndrome (PMDS), including a high risk of autism spectrum disorder (ASD). We used unbiased, quantitative proteomics to identify changes in the phosphoproteome of Shank3-deficient neurons. Down-regulation of protein kinase B (PKB/Akt)-mammalian target of rapamycin complex 1 (mTORC1) signaling resulted from enhanced phosphorylation and activation of serine/threonine protein phosphatase 2A (PP2A) regulatory subunit, B56β, due to increased steady-state levels of its kinase, Cdc2-like kinase 2 (CLK2)...

A potential role for immune dysfunction in autism spectrum disorders (ASD) has been well established. However, immunological features of Rett syndrome (RTT), a genetic neurodevelopmental disorder closely related to autism, have not been well addressed yet. By using multiplex Luminex technology, a panel of 27 cytokines and chemokines was evaluated in serum from 10 RTT patients with confirmed diagnosis of MECP2 mutation (typical RTT), 12 children affected by classic autistic disorder and 8 control subjects. The cytokine/chemokine gene expression was assessed by real time PCR on mRNA of isolated peripheral blood mononuclear cells (PBMCs)...

IMPORTANCE: Individuals with autism spectrum disorder (ASD) exhibit severe difficulties in social interaction, motor coordination, behavioral flexibility, and atypical sensory processing, with considerable interindividual variability. This heterogeneous set of symptoms recently led to investigating the presence of abnormalities in the interaction across large-scale brain networks. To date, studies have focused either on constrained sets of brain regions or whole-brain analysis, rather than focusing on the interaction between brain networks...

BACKGROUND: Prevalence estimates of autism spectrum disorder (ASD) in Down syndrome (DS) are highly varied. This variation is partly due to the difficulty of screening for and diagnosing comorbid ASD in individuals with a syndrome that carries its own set of social communicative and behavioral difficulties that are not well documented. The aim of this study was to identify the typical range of social communicative impairments observed in children, adolescents, and young adults with DS who do not have comorbid ASD...

INTRODUCTION: The child's inclusion in his/her social-cultural context is very important to his/her adaptation and well-being. The family has a major role as a facilitator of this process. Therefore the difficulties of these families in communicating with children with communication disorders are an important issue to be assessed in order to support orientations to families. PURPOSE: The present study aimed to identify and compare communication difficulties perceived by parents of children with Down Syndrome (DS), Autism Spectrum Disorders (ASD) and Specific Language Impairment (SLI)...