Pubmed du 11/04/21
1. Carson TB, Valente MJ, Wilkes BJ, Richard L. Brief Report: Prevalence and Severity of Auditory Sensory Over-Responsivity in Autism as Reported by Parents and Caregivers. Journal of autism and developmental disorders. 2022; 52(3): 1395-402.
Auditory sensory over-responsivity (aSOR) is a frequently reported sensory feature of autism spectrum disorders (ASD); however, there is little consensus regarding its prevalence and severity. This cross-sectional study uses secondary data from the Autism Diagnostic Interview-Revised (ADI-R; Item 72: undue sensitivity to noise) housed in the US National Institute of Mental Health Data Archives to identify prevalence and severity of aSOR. Of the 4104 subjects with ASD ages 2-54 (M = 9, SD = 5.8) who responded to item 72, 60.1% (n = 1876) had aSOR currently (i.e., point prevalence) and 71.1% (n = 2221) reported having aSOR ever (i.e., lifetime prevalence). aSOR prevalence and severity were affected by age, but there were no associations with sex.
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2. Ellingford RA, Panasiuk MJ, de Meritens ER, Shaunak R, Naybour L, Browne L, Basson MA, Andreae LC. Cell-type-specific synaptic imbalance and disrupted homeostatic plasticity in cortical circuits of ASD-associated Chd8 haploinsufficient mice. Molecular psychiatry. 2021; 26(7): 3614-24.
Heterozygous mutation of chromodomain helicase DNA binding protein 8 (CHD8) is strongly associated with autism spectrum disorder (ASD) and results in dysregulated expression of neurodevelopmental and synaptic genes during brain development. To reveal how these changes affect ASD-associated cortical circuits, we studied synaptic transmission in the prefrontal cortex of a haploinsufficient Chd8 mouse model. We report profound alterations to both excitatory and inhibitory synaptic transmission onto deep layer projection neurons, resulting in a reduced excitatory:inhibitory balance, which were found to vary dynamically across neurodevelopment and result from distinct effects of reduced Chd8 expression within individual neuronal subtypes. These changes were associated with disrupted regulation of homeostatic plasticity mechanisms operating via spontaneous neurotransmission. These findings therefore directly implicate CHD8 mutation in the disruption of ASD-relevant circuits in the cortex.
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3. Fei YF, Ernst SD, Dendrinos ML, Quint EH. Preparing for Puberty in Girls With Special Needs: A Cohort Study of Caregiver Concerns and Patient Outcomes. Journal of pediatric and adolescent gynecology. 2021; 34(4): 471-6.
STUDY OBJECTIVE: To characterize the patient population with cognitive or physical impairments that presents for anticipatory guidance of puberty, evaluate caregiver concerns with respect to puberty, and describe chosen management strategies and outcomes following menarche. DESIGN: Retrospective cohort study SETTING: Academic tertiary care women and children’s hospital PARTICIPANTS: Eligible female patients with special needs up to age 26 years presenting for anticipatory guidance from 2009 to 2018 MAIN OUTCOME MEASURES: Primary outcomes included characterization of patients presenting for anticipatory guidance and their reasons for menstrual management. Secondary outcomes were satisfaction with menstrual management and bleeding patterns. RESULTS: A total of 61 patients presented for anticipatory guidance of puberty, on average 13.5 months prior to menarche. Compared to the overall adolescent population with special needs who presented for gynecologic care, patients who had autism spectrum disorder (ASD), were nonverbal, or had attention-deficit/hyperactivity disorder (ADD/ADHD) were more likely to present for a pre-menarchal visit to discuss anticipated pubertal development (P < .001, P = .009, and P = .04, respectively). More than half of families described potential behavioral changes as their main concern. The majority of post-menarchal patients (80%) desired hormonal management of menses, including 30% of patients who had placement of a levonorgestrel intrauterine device. In all, 96% of patients were satisfied with their final menstrual bleeding pattern; 50% achieved amenorrhea or light spotting. CONCLUSIONS: This study describes the important role of pre-menarchal reproductive counseling for girls with disabilities. Anticipation of puberty causes great anxiety in families and patients, especially those with ASD, ADD/ADHD, and non-verbal status. Providers should consider initiating these conversations early in pubertal development.
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4. Harrison LA, Kats A, Kilroy E, Butera C, Jayashankar A, Keles U, Aziz-Zadeh L. Motor and sensory features successfully decode autism spectrum disorder and combine with the original RDoC framework to boost diagnostic classification. Scientific reports. 2021; 11(1): 7839.
Sensory processing and motor coordination atypicalities are not commonly identified as primary characteristics of autism spectrum disorder (ASD), nor are they well captured in the NIMH’s original Research Domain Criteria (RDoC) framework. Here, motor and sensory features performed similarly to RDoC features in support vector classification of 30 ASD youth against 33 typically developing controls. Combining sensory with RDoC features boosted classification performance, achieving a Matthews Correlation Coefficient (MCC) of 0.949 and balanced accuracy (BAcc) of 0.971 (p = 0.00020, calculated against a permuted null distribution). Sensory features alone successfully classified ASD (MCC = 0.565, BAcc = 0.773, p = 0.0222) against a clinically relevant control group of 26 youth with Developmental Coordination Disorder (DCD) and were in fact required to decode against DCD above chance. These findings highlight the importance of sensory and motor features to the ASD phenotype and their relevance to the RDoC framework.
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5. Hee HI, Lim YC, Tan T, Wan S, Wijeweera O, Lee S, Raghavan K. A concept mobility device with multi-positional configurations and child-kind restraint for safe perioperative transfer and induction of anaesthesia in children with autistic spectrum disorder – a cross sectional study. BMC health services research. 2021; 21(1): 325.
BACKGROUND: Transfer into the operating room, onto the operating table and mask induction of anaesthesia are major challenges faced by children with Autistic Spectrum Disorder (ASD). In a pilot study, parents observed that perioperative transfer becomes unsafe and difficult when children with ASD becomes uncooperative. METHOD: A CHILD-KIND CONCEPT mobility system comprising of multi-positioning seat configurations and restraining module was developed with inputs from multi-disciplinary healthcare professionals and parents with children with ASD. To appeal to children and motivate child-machine interaction, the seat configurations and restraining module are designed to take the form of child-friendly, non-threatening, fun and familiar items. The sitting configuration, sitting to supine transformation, the restraint modules resemble racing-car seat, reclining motion of a home massage chair, safety restraints found in airplanes and amusement rides respectively. Healthcare professionals (HCPs) involved in the perioperative patient care, parents of ASD children and children (neurotypical and ASD) experience the use of the system in a non-clinical environment and participated in a survey study. The acceptance of its functionality (HCPs, parents) for perioperative transfer and induction of anaesthesia, rating of the user experience and likes and dislikes of (parents and children) were obtained. RESULTS: Thirty-two HCPs, 30 parents and 23 children participated. Majority of parents and HCPs opined the use of the system enables improvement in the management of perioperative movement (90.0% parents, 100% HCPs), safe perioperative movement (86.7% parents, 96.9% HCPs) and promotes ease of anaesthesia induction (76.7% parents, 90.6% HCPs) for uncooperative combative ASD children. Overall, 93.8% HCPs and 86.7% parents would recommend its frequent use in their own practice and their ASD children respectively. Attractiveness and multi-functionality are attributes endorsed by parents and children. Children endorse its use for induction of anaesthesia (73.9%), dental chair (82.6%), intra-hospital transfer (95.7%). CONCLUSION: A child-kind mobility device that integrates appeal with functionality of restraint and multi-positional transformation has a potential to promote safe perioperative movement and ease of induction of anaesthesia in anxious uncooperative ASD children.
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6. Huston JC, Thom RP, Ravichandran CT, Mullett JE, Moran C, Waxler JL, Pober BR, McDougle CJ. Repetitive Thoughts and Repetitive Behaviors in Williams Syndrome. Journal of autism and developmental disorders. 2022; 52(2): 852-62.
The purpose of the study was to characterize repetitive phenomena in Williams syndrome (WS). The parents of 60 subjects with WS completed the Yale-Brown Obsessive Compulsive Scale (Y-BOCS) or Children’s Y-BOCS, the Yale Global Tic Severity Scale, the Stereotyped Behavior Scale, and the Spence Children’s Anxiety Scale-Parent Version. Nineteen males and 41 females participated in the study. Six subjects (10%) had obsessions only, six (10%) had compulsions only, and eleven (18%) had at least one obsession and at least one compulsion. None of the subjects had tics. Fifty subjects (83.3%) endorsed at least one stereotypy. Increased anxiety was associated with increased severity of obsessions, but not severity of compulsions or stereotypies.
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7. Olson L, Chen B, Ibarra C, Wang T, Mash L, Linke A, Kinnear M, Fishman I. Externalizing Behaviors are Associated with Increased Parenting Stress in Caregivers of Young Children with Autism. Journal of autism and developmental disorders. 2022; 52(3): 975-86.
Parents of children diagnosed with autism spectrum disorder (ASD) report higher levels of stress than parents of typically developing children. Few studies have examined factors associated with parental stress in early childhood. Even fewer have investigated the simultaneous influence of sociodemographic, clinical, and developmental variables on parental stress. We examined factors associated with stress in parents of young children with ASD. Multiple regression models were used to test for associations between socioeconomic indices, developmental measures, and parental stress. Externalizing behaviors, communication, and socialization skills accounted for variance in parental stress, controlling for ASD diagnosis. Results highlight the importance of interventions aimed at reducing externalizing behaviors in young children as well as addressing stress in caregivers of children with ASD.
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8. Pfirmann P, Combe C, Rigothier C. [Tuberous sclerosis complex: A review]. La Revue de medecine interne. 2021; 42(10): 714-21.
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects different organs and caused by loss-of-function mutations in one of two genes: TSC1 or TSC2. TSC1 or TSC2 gene mutation lead to dysfunction of hamartin or tuberin, respectively. Hamartin and tuberin form a protein complex that helps regulate cellular proliferation. These proteins form a complex that constitutively inhibits the mammalian target of rapamycin (mTOR) signaling pathway, leading to permanent activation of mTOR signaling within all TSC-associated lesions. Major features of TSC include tumors of the brain, skin, heart, lungs and kidneys, seizures and TSC-associated neuropsychiatric disorders, which can include autism spectrum disorder and cognitive disability. These disorders are usually diagnosed in children and adults. Specific guidelines for diagnosis, surveillance, and management have been proposed by the International Tuberous Sclerosis Complex Consensus Group. Several randomized controlled trials led to regulatory approval of the use of mTOR inhibitors for the treatment of renal angiomyolipomas, brain subependymal giant cell astrocytomas, refractory epilepsy and pulmonary lymphangioleiomyomatosis.
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9. Su WC, Srinivasan S, Cleffi C, Bhat A. Short report on research trends during the COVID-19 pandemic and use of telehealth interventions and remote brain research in children with autism spectrum disorder. Autism : the international journal of research and practice. 2021; 25(6): 1816-22.
The COVID-19 pandemic has caused disruption in F2F healthcare delivery and neuroimaging research, especially when involving vulnerable populations such as children with autism spectrum disorder. Given the easy access to multiple video conferencing platforms, many healthcare services have moved to an online delivery format (i.e. telehealth). It is important to monitor the behavioral and neural effects of telehealth interventions and resume neuroimaging research while adopting public health safety protocols to control the risk of COVID-19 transmission. We summarize existing safety protocols and our own experience from in-person functional near-infrared spectroscopy neuroimaging data collection (on-site, at home, and in outdoor settings), as well as potential opportunities of using online data sharing and low-cost, remote neuroimaging/electrophysiological techniques to continue brain research during the pandemic.
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10. Wang J, Roeder K, Devlin B. Bayesian estimation of cell type-specific gene expression with prior derived from single-cell data. Genome research. 2021; 31(10): 1807-18.
When assessed over a large number of samples, bulk RNA sequencing provides reliable data for gene expression at the tissue level. Single-cell RNA sequencing (scRNA-seq) deepens those analyses by evaluating gene expression at the cellular level. Both data types lend insights into disease etiology. With current technologies, scRNA-seq data are known to be noisy. Constrained by costs, scRNA-seq data are typically generated from a relatively small number of subjects, which limits their utility for some analyses, such as identification of gene expression quantitative trait loci (eQTLs). To address these issues while maintaining the unique advantages of each data type, we develop a Bayesian method (bMIND) to integrate bulk and scRNA-seq data. With a prior derived from scRNA-seq data, we propose to estimate sample-level cell type-specific (CTS) expression from bulk expression data. The CTS expression enables large-scale sample-level downstream analyses, such as detection of CTS differentially expressed genes (DEGs) and eQTLs. Through simulations, we show that bMIND improves the accuracy of sample-level CTS expression estimates and increases the power to discover CTS DEGs when compared to existing methods. To further our understanding of two complex phenotypes, autism spectrum disorder and Alzheimer’s disease, we apply bMIND to gene expression data of relevant brain tissue to identify CTS DEGs. Our results complement findings for CTS DEGs obtained from snRNA-seq studies, replicating certain DEGs in specific cell types while nominating other novel genes for those cell types. Finally, we calculate CTS eQTLs for 11 brain regions by analyzing Genotype-Tissue Expression Project data, creating a new resource for biological insights.
