Pubmed du 06/04/22
1. Aita SL, Holding EZ, Greene J, Carrillo A, Moncrief GG, Isquith PK, Gioia GA, Roth RM. Multivariate base rates of score elevations on the BRIEF2 in children with ADHD, autism spectrum disorder, or specific learning disorder with impairment in reading. Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence. 2022: 1-18.
There is a paucity of research examining multivariate base rates (MBRs) of elevated scores in pediatric rating scales of cognition. We present novel MBR information on the Behavior Rating Inventory of Executive Function, Second Edition (BRIEF2) for several clinical groups: Attention-Deficit/Hyperactivity Disorder Combined Presentation (ADHD-C); ADHD Inattentive Presentation (ADHD-I); Autism Spectrum Disorder (ASD); and Specific Learning Disorder with impairment in Reading (SLD-R). Participants included children diagnosed as having ADHD-C (n = 350), ADHD-I (n = 343), ASD (n = 390), or SLD-R (n = 240). Cumulative MBRs (e.g., the % of a sample having one or more elevated scores) were examined for each BRIEF2 form (Parent, Teacher, and Self-Report) and at three T-score cutoffs (T ≥ 60, T ≥ 65, and T ≥ 70). The MBR of obtaining at least one elevated score was common across clinical groups and forms at T ≥ 60 (ADHD-C = 90.5-98.1%; ADHD-I = 83.9-98.7%; ASD = 90.3-96.9%, SLD-R = 60.0-78.4%), T ≥ 65 (ADHD-C = 66.7-97.2%; ADHD-I = 77.5-94.9%; ASD = 77.3-92.7%; SLD-R = 38.5-64.0%), and T ≥ 70 (ADHD-C = 52.4-89.4%; ADHD-I = 64.8-84.2%; ASD = 54.5-83.2%; SLD-R = 26.9-44.1%). MBRs appeared to differ as a function of group (ADHD-C > ADHD-I > ASD > SLD-R) and form (Parent > Teacher > Self-Report) though future research with well-defined samples is needed to investigate this. We provide novel MBR information to enhance clinical interpretation of BRIEF2 data.
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2. Anobile G, Marazzi M, Federici S, Napoletti A, Cecconi L, Arrighi R. Unimpaired groupitizing in children and adolescents with dyscalculia. Scientific reports. 2022; 12(1): 5629.
When asked to estimate the number of items in the visual field, neurotypical adults are more precise and rapid if the items are clustered into subgroups compared to when they are randomly distributed. It has been suggested that this phenomenon, termed « groupitizing », relies on the recruitment of arithmetical calculation strategies and subitizing. Here the role of arithmetical skills in groupitizing was investigated by measuring the groupitizing effect (or advantage) in a sample of children and adolescents with and without math learning disability (dyscalculia). The results showed that when items were grouped, both groups of participants showed a similar advantage on sensory precision and response time in numerosity estimates. Correlational analyses confirmed a lack of covariation between groupitizing advantage and math scores. Bayesian statistics on sensory precision sustained the frequentist analyses providing decisive evidence in favor of no groups difference on groupitizing advantage magnitude (LBF = - 0.44) and no correlation with math scores (LBF = - 0.57). The results on response times, although less decisive, were again in favor of the null hypothesis. Overall, the results suggest that the link between groupitizing and mathematical abilities cannot be taken for granted, calling for further investigations on the factors underlying this perceptual phenomenon.
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3. Boggs AE, Schmitt LM, McLane RD, Adayev T, LaFauci G, Horn PS, Dominick KC, Gross C, Erickson CA. Optimization, validation and initial clinical implications of a Luminex-based immunoassay for the quantification of Fragile X Protein from dried blood spots. Scientific reports. 2022; 12(1): 5617.
Fragile X Syndrome (FXS) is caused by a trinucleotide expansion leading to silencing of the FMR1 gene and lack of expression of Fragile X Protein (FXP, formerly known as Fragile X Mental Retardation Protein, FMRP). Phenotypic presentation of FXS is highly variable, and the lack of reproducible, sensitive assays to detect FXP makes evaluation of peripheral FXP as a source of clinical variability challenging. We optimized a Luminex-based assay to detect FXP in dried blot spots for increased reproducibility and sensitivity by improving reagent concentrations and buffer conditions. The optimized assay was used to quantify FXP in 187 individuals. We show that the optimized assay is highly reproducible and detects a wide range of FXP levels. Mosaic individuals had, on average, higher FXP levels than fully methylated individuals, and trace amounts of FXP were consistently detectable in a subset of individuals with full mutation FXS. IQ scores were positively correlated with FXP levels in males and females with full mutation FXS demonstrating the clinical utility of this method. Our data suggest trace amounts of FXP detectable in dried blood spots of individuals with FXS could be clinically relevant and may be used to stratify individuals with FXS for optimized treatment.
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4. Freitas Ramos S, Moura B, Corvacho M, Tavares A. Caring for People with Autism Spectrum Disorder and Cancer. Acta medica portuguesa. 2022; 35(4): 309-10.
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5. Mei T, Ma ZH, Guo YQ, Lu B, Cao QJ, Chen X, Yang L, Wang H, Tang XZ, Ji ZZ, Liu JR, Xu LZ, Wang LQ, Yang YL, Li X, Yan CG, Liu J. Frequency-specific age-related changes in the amplitude of spontaneous fluctuations in autism. Translational pediatrics. 2022; 11(3): 349-58.
BACKGROUND: Autism spectrum disorder is characterized by atypical developmental changes during brain maturation, but regional brain functional changes that occur with age and across different frequency bands are unknown. Therefore, the current study aimed to explore potential age and frequency band-related changes in the regional brain activities in autism. METHODS: A total of 65 participants who met the DSM-IV criteria for autistic disorder and 55 typically developed (TD) participants (both age 6-30 years) were recruited in the current study. The two groups were matched in age (t=-1.314, P=0.191) and gender (χ(2)=2.760, P=0.097). The amplitude of low-frequency fluctuations (ALFF) was employed to explore the effect of development on spontaneous brain activity in individuals with autism and in TD participants across slow-5 (0.01-0.027 Hz), slow-4 (0.027-0.073 Hz), and slow-3 (0.073-0.1 Hz) frequency bands. The diagnosis-by-age interaction effect in the whole brain voxels in autism and TD groups was investigated. RESULTS: Autism individuals showed significantly higher ALFF in the dorsal striatum in childhood (Caudate cluster: t=3.626, P=0.001; Putamen cluster: t=2.839, P=0.007) and remarkably lower ALFF in the dorsal striatum in adulthood (Caudate cluster: t=-2.198, P=0.038; Putamen cluster: t=-2.314, P=0.030) relative to TD, while no significant differences were observed in adolescence (all P>0.05). In addition, abnormal ALFF amplitudes were specific to the slow-4 (0.027-0.073 Hz) frequency band in the clusters above. CONCLUSIONS: The current study indicated abnormal development patterns in the spontaneous activity of the dorsal striatum in autism and highlighted the potential role of the slow-4 frequency band in the pathology of autism. Also, the potential brain mechanism of autism was revealed, suggesting that autism-related variations should be investigated in a specific frequency.
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6. Stallworthy IC, Masten AS. Advancing research on early autism through an integrated risk and resilience perspective. Development and psychopathology. 2022: 1-18.
To date, a deficit-oriented approach dominates autism spectrum disorder (ASD) research, including studies of infant siblings of children with ASD at high risk (HR) for the disabilities associated with this disorder. Despite scientific advances regarding early ASD-related risk, there remains little systematic investigation of positive development, limiting the scope of research and quite possibly a deeper understanding of pathways toward and away from ASD-related impairments. In this paper, we argue that integrating a resilience framework into early ASD research has the potential to enhance knowledge on prodromal course, phenotypic heterogeneity, and developmental processes of risk and adaptation. We delineate a developmental systems resilience framework with particular reference to HR infants. To illustrate the utility of a resilience perspective, we consider the « female protective effect » and other evidence of adaptation in the face of ASD-related risk. We suggest that a resilience framework invites focal questions about the nature, timing, levels, interactions, and mechanisms by which positive adaptation occurs in relation to risk and developmental pathways toward and away from ASD-related difficulties. We conclude with recommendations for future research, including more focus on adaptive development and multisystem processes, pathways away from disorder, and reconsideration of extant evidence within an integrated risk-and-resilience framework.
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7. Trewin A, Mailloux Z, Schaaf RC. Evaluation of MealSense©: A Sensory Integration-Based Feeding Support Program for Parents. The American journal of occupational therapy : official publication of the American Occupational Therapy Association. 2022; 76(3).
IMPORTANCE: Children with autism spectrum disorder (ASD) often experience feeding challenges related to difficulties with sensory integration. OBJECTIVE: To evaluate the content, acceptability, and usefulness of MealSense©, an online parent education program for children with ASD who have feeding challenges related to poor sensory integration. DESIGN: A descriptive study in which experts reviewed and rated MealSense content for consistency with Ayres Sensory Integration® (ASI) principles and evidence-based practices in feeding. PARTICIPANTS: A convenience sample of expert reviewers (n = 5) and parents of children with ASD and feeding challenges (n = 5). RESULTS: Expert ratings (n = 5) met criteria showing that MealSense is consistent with ASI and evidence-based practices in feeding. Parent ratings (n = 5) met criteria showing that MealSense is acceptable and useful. CONCLUSIONS AND RELEVANCE: MealSense is acceptable and useful to parents of children with ASD and is consistent with ASI and evidence-based practices in feeding. What This Article Adds: This study provides preliminary support for MealSense as an evidence-based tool to supplement direct intervention for children with ASD and feeding difficulties. Further research is needed to determine its efficacy in improving the transfer of feeding skills into the home environment.
