Journal of Autism and Developmental Disorders最新文献

KAT6B and KAT6A belong to the MYST family of lysine acetyltransferases, and regulate gene expression via histone modification. Although both proteins share similar structure and epigenetic regulatory functions, it remains unclear if KAT6A/6B mutation disorders, both very rare conditions, yield the same neurocognitive presentation and thus benefit from similar treatment approaches. This study provides a preliminary overview of neuropsychological functioning of 13 individuals with KAT6B disorder (Mean age = 9.01 years, SD = 5.46), which was compared to that of a recently published sample of 15 individuals with KAT6A syndrome (Mean age = 10.32 years, SD = 4.12). Participants completed a neuropsychological test battery to assess non-verbal cognition, and caregivers completed a series of standardized rating inventories to assess daily behavioral functioning. Results reveal those with KAT6B disorders present with severe adaptive deficits (92.3%) and autism-related behaviors (83.3%), juxtaposed with relatively low concerns with externalizing behaviors (7.6%), a pattern shared by the KAT6A group. Those with KAT6B disorders present with high levels of autistic features, including reduced affiliative interest, whereas social motivation is less affected within the KAT6A group. Overall, the levels of impairment in nonverbal cognition and receptive language were comparable among those with KAT6B disorders, a trend also seen in the KAT6A group. In brief, KAT6B and KAT6A disorders yield analogous neuropsychological profiles. Findings implicate common molecular pathophysiological mechanisms for these epigenetic disorders, such that similar therapies may have shared effect across diseases.

Purpose: Sleep problems are common in neurodevelopmental genetic disorders (NGD), with impacts on daytime functioning amplified in these individuals. However, despite their prevalence and clinical impact, correlates of sleep difficulties in this group remain poorly characterized. This study used a large cohort of individuals with several rare NGDs to (i) characterize sleep phenotypes across disorders; and (ii) examine predictors of poor sleep.

Methods: Parents of 173 individuals with rare NGDs including PTEN hamartoma tumor syndrome, SYNGAP1, NFIX, a mixed group of other NGDs (Mean age = 14.16 years, SD = 10.45) and 123 parents of neurotypical children (Mean age = 12.28 years, SD = 7.93) completed the Neurobehavioral Evaluation Tool (NET). The NET assessed sleep problems, social communication impairments, restricted and repetitive behaviors, executive functioning, and mood and anxiety symptoms.

Results: Group comparisons revealed that the SYNGAP1 group experienced the most severe sleep problems. Hierarchical regression models showed that the independent statistically significant predictors for each sleep problem varied. Depressed affect and emotion regulation predicted sleep initiation and maintenance difficulties, insistence on sameness and separation anxiety predicted bedtime resistance, age and depressed affect predicted early morning somnolence, while sensory sensitivities and anxiety symptoms predicted decreased sleep length.

Conclusions: Findings highlight the elevated severity of sleep problems in NGDs. Correlates of specific sleep problems vary, providing further evidence to suggest that accurate assessment and diagnosis of sleep problems, and evaluation of correlates of sleep difficulties, is required in order to provide targeted interventions in rare NGDs.

Given the high prevalence of sleep problems in children with autism spectrum disorder (ASD), there is a critical need to examine how sleep problems may be exacerbated for children exposed to social and environmental adversity. Guided by the socio-ecological model, this review aimed to evaluate factors linked to sleep health disparities (SHDs) in children with ASD, determine possible gaps/limitations in existing literature, and identify possible solutions. A scoping review was selected to ascertain what is known about SHDs in ASD. Four databases identified articles from 2004 to 2023. Included articles were those conducted in children with ASD that focused on sleep and examined socio-ecological factors (i.e., individual, family, neighborhood and socio-cultural) possibly contributing to SHDs. 41 studies were extracted; 31 (75.6%) focused on individual factors, 27 (65.9%) focused on family factors, 11 (26.8%) focused on neighborhood and/or socio-cultural factors; 3 (7.3%) focused on factors across all three socio-ecological levels. Six studies included interventions that found improvements in child sleep, behavior, and quality of life. Representation of racial and ethnic minoritized groups was limited across studies. Most studies focused on individual child factors associated with sleep problems, with less research focused on family factors, and very few studies examining broader neighborhood and socio-cultural factors. Only about half of studies reported race and ethnicity data, with sparse representation of racial and ethnic minoritized children and families overall. These findings highlight the need for future research on modifiable socio-ecological factors to guide equitable sleep interventions for children with ASD.

Purpose: Systemizer Profile Questionnaire (SPQ), which has not been used before, investigates difficulties in mentalisation, sensory- and/or social sensitivity and social cognition (MSSSC) in subjects with Autism-Spectrum-Disorders (ASD) with and without Attention-Deficit-Hyperactivity-Disorder (ADHD). The aim of this study was to evaluate the reliability and validity of the SPQ domains, and to assess the predictive validity of the SPQ against the Ritvo Autism Asperger Diagnostic Scale (RAADS).

Methods: Three-hundred-fifty-four study subjects with ICD-10 verified ASD confirmed by RAADS and 354 controls matched on age group and gender were recruited and evaluated systematically with SPQ, standardized questions about demographic and clinical data. Hypothesized SPQ subscales formed from 85 items were evaluated using confirmatory factor analysis (CFA). Resulting revised sub-scales were confirmed using item response theory (IRT) and the predictive validity of the SPQ scores was evaluated using RAADS scores above 64 as the standard.

Results: Twenty-two of the original 85 items were removed, resulting in an instrument with 63 items across nine psychometrically valid domains. These domains had high sensitivity (range: 0.64 to 0.84), and high specificity (range: 0.73 to 0.90). Positive predictive values (range: 0.76 to 0.89) and negative predictive values (range: 0.69 to 0.90) were also high. For the total SPQ score the sensitivity was 0.95, the specificity was 0.87, the positive predictive value was 0.88 and the negative predictive value was 0.95.

Conclusion: SPQ domains are valid descriptions/profiles of MSSSC given that ASD is confirmed by RAADS, though irrelevant if not, as SPQ is not a diagnostic instrument.

Autistic individuals and persons with other intellectual or developmental disabilities (IDD) may experience challenges in social engagement, sensory processing, and behavior rigidity. This population is more likely to face barriers to successful preventative healthcare, including vaccines, compared to neurotypical peers. Autistic individuals and persons with other IDD may be at greater risk for COVID-19 infection due to sensory dysregulation that interferes with mitigation such as wearing masks, and challenges in social communication that impose difficulties in understanding and adhering to prevention measures. Adaptations are needed to make vaccine opportunities more accessible for neurodivergent individuals. A series of seven Sensory-Friendly COVID-19 Vaccine Clinics (SFVCs) were conducted between December 2021 and August 2022 in collaboration with the A.J. Drexel Autism Institute and the Academy of Natural Sciences of Drexel University. SFVCs examined perceived barriers and facilitators to vaccine experiences, based on feedback from autistic individual/persons with IDD and their caregivers. Surveys were administered to autistic individuals/persons with IDD or their caregivers (n = 35) from the larger sample who attended the clinic; 18 participants also complete a supplemental interview. Scaled survey questions were analyzed to determine the acceptability of the SFVCs. Open-ended survey questions and interview responses were coded thematically to identify barriers, facilitators, and areas of improvement. All individuals who came to a SFVC with intent to be vaccinated were successfully administered a COVID-19 vaccine. More than 90% of participants reported that experiences at the SFVCs were positive, promoted retention, and they would recommend clinics to others. Staff clinical expertise, sensory-friendly elements, and hosting clinics at a neutral location (free from past medical history) served as facilitators to successful vaccine administration, whereas factors such as ill-equipped pharmacy staff, behavioral challenges, and logistical issues may serve as barriers. Incorporating reported barriers, facilitators, and accommodations of SFVC experiences may lead to more successful preventative healthcare processes for neurodivergent individuals.

Parents play a substantial role in their children's emotion regulation (ER) abilities. Children with autism spectrum disorder (ASD) often have difficulties regulating their emotions, which can manifest as externalizing behavioral issues. Parents of children with ASD facilitate their children's ER development in response to unique challenges and stressors, often developing resiliency but other times contributing to their children's dysregulation and behavioral challenges. It is unclear how much momentary stress attenuates parents' emotional facilitation of child ER and its effect on child behavioral functioning. Using an ecological momentary assessment approach, the current study explores this process by considering how parents of children with ASD facilitate child ER through (1) parent ER ability, (2) emotion socialization style, and (3) expressed emotion. Multilevel models explored the relative influences of parent ER facilitation on the association between momentary parent stress and behavioral intensity. Results suggest that parent ER abilities and specific emotion socialization styles interact with momentary parent stress and child behavior, whereas emotional climate of the home impacts child behavior more directly. The role of parent ER facilitation in the context of parent stress and children with ASD and behavioral problems is complex and multifaceted. Implications for further supporting children's emotional development via parent involvement are discussed.

Despite the enormous clinical relevance of disordered sleep to autism spectrum disorder (ASD), to date, few studies have employed objective measures of sleep architecture in ASD. Previous studies have identified an association between slow wave activity in electroencephalography (EEG) at sleep onset and daytime cognitive and affective functioning in other neuropsychiatric disorders. However, it is unknown whether slow wave activity, particularly Theta activity, at sleep onset is present more in ASD and whether it is related to daytime functioning. We used polysomnography (PSG) to investigate the presence of Theta activity at sleep onset in 60 children and adolescents aged 5.6-18.3 years old with ASD and 70 typically developing controls (TD). We performed visual analysis of PSG to identify bursts of theta activity at sleep onset (TASO) and examined its association with cognition, affect, and daytime behavior in children with ASD. TASO was more prevalent in ASD participants (30%) compared to controls (6%). The TASO (+) group scored significantly worse on the affect recognition test with a large effect size (18.6 (8.0) vs. 23.5 (5.5), t = 2.30, p = 0.027, d = 0.75). TASO was not associated with any other cognitive or affective measures; however, there was a trend toward association with worse daytime behavior. Our findings identify TASO as a feature of objective sleep in children with ASD, and provide a potential mechanism underlying previous reports of an association between poor sleep and ASD symptom severity, especially social cognition.

To examine the long-term effects of Visual Praxis Based Occupational Therapy Program on the motor skills of children with Specific Learning Disabilities. Ninety-six boys and girls were divided into two groups: Experimental (n = 48) and Control (n = 48). The Experimental group received Visual Praxis Based Occupational Therapy Program in two weekly sessions for 8 weeks. All participants were assessed with the Bruininks-Oseretsky Motor Proficiency Test-2 Brief Form at three-time points; pre-test, post-test, and follow-up. The experimental group showed superior results, Bruininks-Oseretsky Motor Proficiency Test-2 Brief Form's Fine Motor Precision, Fine Motor Integration, Bilateral Coordination, Balance, Speed and Dexterity, Upper Extremity Coordination and Total Score significantly increased after the intervention (p ≤ 0 0.05) and the scores were maintained at the follow-up (p > 0.05). The Visual Praxis Based Occupational Therapy Program intervention provided a retained positive effect in the development of motor skills in children with Specific Learning Disabilities.

The study described the sleep characteristics (SC) of children/adolescents with Autism Spectrum Disorder (ASD), and examined their association with medication use, support level, chronotype, probable sleep bruxism (PSB), anxiety, salivary levels of cortisol (SalC) and melatonin (SalM). Methods: Following anamnesis and dental examination, anxiety was assessed using the SCARED questionnaire. The SCs were determined by two age-appropriate questionnaires, and the percentage of negative SCs (%Neg) was recorded. Saliva samples were collected to measure SalC and SalM levels. The sample comprised 85 ASD patients aged 2-16 years, of whom 80%, 50.6% were classified as support level 2, 83.5% used medication, 84.7% had an afternoon chronotype, 72.9% presented PSB, and 48.2%, anxiety. The mean %Neg was significantly higher in patients using medication (49.29 ± 15.88; p = 0.03) and those requiring more support (level 1: 41.57 ± 14.45; level 2: 50.78 ± 15.54; level 3: 55.11 ± 23.44; p = 0.019). Patients with anxiety showed a higher %Neg (51.31 ± 16.33) than those without anxiety (43.65 ± 15.79). The mean SalC and SalM levels were 13.29 ± 13.39 and 299.91 ± 241.77, respectively.. In children aged 2-6 years, one rhythmicity SC and two separation-related SCs were associated with SalC (p < 0.05); lower SalM levels were found in patients who "slept alone" (p = 0.02). In older patients, "moving while sleeping" was associated with lower SalC (p = 0.05), and three additional SCs were linked to reduced SalM levels (p < 0.05). The presence of negative SCs in ASD patients was more common in those taking medication, requiring more support, and presenting anxiety. Furthermore, SalC and SalM levels were associated with specific SCs, especially among individuals aged (7-16).

Baby schema refers to physical features perceived as cute, known to trigger attention, induce positive emotions, and prompt social interactions. Given the reduced visual attention to social stimuli observed in individuals on the autism spectrum, the current study examines whether the sensitivity to baby schema is also affected. We expected that the looking time towards cute-featured stimuli would vary with symptom severity levels and would be associated with social affect. Ninety-four children (31 typically developing; 63 diagnosed with autism spectrum disorder - ASD) aged 20-83 months (M = 49.63, SD = 13.59) completed an eye-tracking visual exploration task. Autistic participants were separated into two groups based on symptom severity: children with high autism severity symptoms (HS ASD; N = 23) and low-moderate autism symptoms (LMS ASD; N = 40). Animals and neutral objects were simultaneously presented on the screen along with either human babies (condition 1) or adults (condition 2). The results indicated that visual attention oriented to cute-featured stimuli varied with autism symptom severity: only LMS and TD groups spend more time looking at cute-featured stimuli (babies; animals) than neutral objects. Moreover, children with higher severity in the social affect domain spent less time on the stimuli depicting cute than non-cute stimuli. These findings suggest that autism symptom severity and social skills are linked to variations in visual attention to cute stimuli. Implications of baby schema sensitivity are discussed in relation to the development of social competencies and play, responsiveness to robot-based interventions, as well as appraised relevance in autistic children.