Pubmed du 03/11/21
1. Bal VH, Leventhal BL, Carter G, Kim H, Koh YJ, Ha M, Kwon HJ, Hong P, Kim YS. Parent-Reported Suicidal Ideation in Three Population-Based Samples of School-Aged Korean Children With Autism Spectrum Disorder and Autism Spectrum Screening Questionnaire Screen Positivity. Archives of suicide research : official journal of the International Academy for Suicide Research. 2021: 1-18.
OBJECTIVES: Higher prevalence of suicidality has been reported in individuals with ASD. This study aimed to (1) Estimate the prevalence of suicidal ideation (SI) in epidemiologically-ascertained, population-based, samples of children with ASD or Autism Spectrum Screening Questionnaire (ASSQ) Screen Positivity (ASP); (2) Determine whether ASD/ASP is an independent risk factor for SI, controlling for known SI risk factors; and, (3) Develop an explanatory model for SI in children with ASD/ASP. METHODS: Participants came from three epidemiologically-ascertained samples of school-aged Korean children (n = 14,423; 3,702; 4,837). ASSQ ≥ 14 was the cutoff for ASP. A subsample (n = 86) was confirmed to have ASD. SI was based on parents’ endorsement of items on the Behavioral Assessment System for Children-2-Parent Report Scale-Children. Logistic regressions were used to assess associations between SI and ASD/ASP, controlling for demographics, peer victimization, behavior problems, and depression. To develop an explanatory model for SI within ASD/ASP, the associations between SI and child characteristics (comorbid conditions, ASD symptoms, IQ, adaptive function) were tested. RESULTS: SI was higher in children with ASD (14%) and ASP (16.6-27.4%) than ASSQ Screen Negative (ASN) peers (3.4-6.9%). ASD/ASP was strongly predictive of SI (ORs: 2.87-5.67), after controlling for known SI risk factors compared to ASN. Within the ASD and ASP groups, anxiety was the strongest predictor of SI. CONCLUSIONS: SI prevalence was higher in non-clinical samples of children with ASD and ASP, relative to ASN peers. These results underscore the need for routine screening for SI in children with ASD and social difficulties, particularly those with high anxiety. HighlightsPopulation-based, epidemiologically-ascertained, school-aged childrenASD and ASP are independent risk factors for SI in school-aged childrenAnxiety is an independent risk factor for SI in children with ASD or ASP.
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2. Charron JG, Hernandez A, Bilinovich SM, Vogt DL, Bedinger LA, Seaver LH, Williams M, Devries S, Campbell DB, Bupp CP, Prokop JW. N-methyl-d-aspartate (NMDA) receptor genetics: The power of paralog homology and protein dynamics in defining dominant genetic variants. American journal of medical genetics Part A. 2022; 188(2): 556-68.
Predicting genotype-to-phenotype correlations from genomic variants has been challenging, particularly for genes that have a complex balance of dominant and recessive inheritance for phenotypes. Variants in NMDA receptor components GRIN1, GRIN2A, and GRIN2B cause a myriad of dominant disease phenotypes, with the most common being epilepsy and autism spectrum disorder. Starting from the analysis of a variant of uncertain significance (VUS, GRIN2A G760S), we realized the need for tools to map dominant variants for the components of the NMDA receptor. Some variants within GRIN1, GRIN2A, and GRIN2B exert dominant epilepsy and developmental delay, yet other amino acid variants are conserved and predicted to alter protein function but do not have dominant phenotypes. Common variant annotation tools are not powered to determine pathogenic dominant outcomes. To address this gap, we integrated sequence and structural analyses for GRIN1, GRIN2A, and GRIN2B. Using this approach, we determined that paralog homology mapping and topology can segregate dominant variants, with an elevation of intermolecular contacts between the subunits. Furthermore, demonstrating the general utility of our methodology, we show that 25 VUS within ClinVar also reach a dominant variant annotation, including the GRIN2A G760S variant. Our work suggests paralog homology and protein topology as a powerful strategy within the receptor complex to resolve dominant genetic variants relative to variants that would fit a recessive inheritance, requiring two damaging variants. These strategies should be tested in additional dominant genetic disorders to determine the broader utility.
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3. Harden LM, Leahy S, Lala SG, Paul P, Chandna J, Lowick S, Mbatha S, Jaye T, Laughton B, Ghoor A, Sithole P, Msayi J, Kumalo N, Msibi TN, Madhi SA, Lawn JE, Dangor Z. South African Children: A Matched Cohort Study of Neurodevelopmental Impairment in Survivors of Invasive Group B Streptococcus Disease Aged 5 to 8 Years. Clinical infectious diseases : an official publication of the Infectious Diseases Society of America. 2022; 74(Suppl_1): S5-s13.
BACKGROUND: Invasive group B Streptococcus (iGBS) sepsis and meningitis are important causes of child mortality, but studies on neurodevelopmental impairment (NDI) after iGBS are limited. Using Griffiths Mental Development Scales-Extended Revised (GMDS-ER), we described NDI in iGBS survivors and non-iGBS children from South Africa, as part of a 5-country study. METHODS: We identified children aged 5-8 years with a history of iGBS and children with no history of iGBS between October 2019 and January 2021. Children were matched on sex, and birth data (month, year) (matched cohort study). Moderate or Severe NDI was the primary outcome as a composite of GMDS-ER motor, GMDS-ER cognition, hearing, and vision. Secondary outcomes included mild NDI, any emotional-behavioral problems, and GMDS-ER developmental quotients (DQ) calculated by dividing the age equivalent GMDS-ER score by the chronological age. RESULTS: In total, 160 children (iGBS survivors, 43; non-iGBS, 117) were assessed. Among iGBS survivors 13 (30.2%) had meningitis, and 30 (69.8%) had sepsis. Six (13.9%) iGBS survivors, and 5 (4.3%) non-iGBS children had moderate or severe NDI. Children who survived iGBS were 5.56 (95% confidence interval [CI]: 1.07-28.93; P = .041) times more likely to have moderate or severe NDI at 5-8 years than non-iGBS children. Compared to the non-iGBS children, iGBS meningitis survivors had a significantly lower global median DQ (P < .05), as well as a lower median DQ for the language GMDS-ER subscale and performance GMDS-ER subscale (P < .05). CONCLUSIONS: Children surviving iGBS, particularly meningitis, are more likely to have NDI at 5-8 years compared to non-iGBS children. Further research is required to improve detection and care for at-risk newborns.
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4. Rabbani M, Haque MM, Das Dipal D, Zarif MII, Iqbal A, Schwichtenberg A, Bansal N, Soron TR, Ahmed SI, Ahamed SI. An mCARE study on patterns of risk and resilience for children with ASD in Bangladesh. Scientific reports. 2021; 11(1): 21342.
Community-wide lockdowns in response to COVID-19 influenced many families, but the developmental cascade for children with autism spectrum disorder (ASD) may be especially detrimental. Our objective was to evaluate behavioral patterns of risk and resilience for children with ASD across parent-report assessments before (from November 2019 to February 2020), during (March 2020 to May 2020), and after (June 2020 to November 2020) an extended COVID-19 lockdown. In 2020, our study Mobile-based care for children with ASD using remote experience sampling method (mCARE) was inactive data collection before COVID-19 emerged as a health crisis in Bangladesh. Here we deployed « Cohort Studies », where we had in total 300 children with ASD (150 test group and 150 control group) to collect behavioral data. Our data collection continued through an extended COVID-19 lockdown and captured parent reports of 30 different behavioral parameters (e.g., self-injurious behaviors, aggression, sleep problems, daily living skills, and communication) across 150 children with ASD (test group). Based on the children’s condition, 4-6 behavioral parameters were assessed through the study. A total of 56,290 behavioral data points was collected (an average of 152.19 per week) from parent cell phones using the mCARE platform. Children and their families were exposed to an extended COVID-19 lockdown. The main outcomes used for this study were generated from parent reports child behaviors within the mCARE platform. Behaviors included of child social skills, communication use, problematic behaviors, sensory sensitivities, daily living, and play. COVID-19 lockdowns for children with autism and their families are not universally negative but supports in the areas of « Problematic Behavior » could serve to mitigate future risk.
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5. Samsell B, Lothman K, Samsell EE, Ideishi RI. Parents’ experiences of caring for a child with autism spectrum disorder in the United States: A systematic review and metasynthesis of qualitative evidence. Families, systems & health : the journal of collaborative family healthcare. 2022; 40(1): 93-104.
INTRODUCTION: A comprehensive review to identify key topics and to discern patterns in the perspectives of parents of children with autism spectrum disorder (ASD) can improve understanding of the knowledge flow among stakeholders, thereby guiding future educational strategies. This systematic review and metasynthesis characterized the experiences of parents who have a child with ASD using qualitative studies in the literature. METHOD: A predefined search strategy across five databases was conducted in accordance with PRISMA guidelines. A metaaggregative approach was used to synthesize extracted data into themes that were condensed into overarching categories. RESULTS: Ten themes and nine groups of key stakeholders were identified across 12 studies. Themes were grouped into four categories: behaviors, socioemotional impacts, structural needs, and gaps in knowledge about ASD. Gaps in knowledge about ASD was a pervasive theme that played a critical role in interactions between stakeholders. Families of children with ASD make life adaptations in a variety of areas, including structuring activities around ASD, physical modifications to homes for safety, intentional social isolation, increased financial expenses, and homeschooling. DISCUSSION: Parents must educate themselves on how to manage all aspects of ASD, and in doing so, often become experts not only in the individual needs of their own child and families, but in ASD more broadly. Family experiences contextualize key stakeholder knowledge for application across multiple systems, including education and health care services, home, and the community. Educational interventions that integrate family, service provider, and community perspectives are needed to address the stakeholder gap in knowledge. (PsycInfo Database Record (c) 2022 APA, all rights reserved).
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6. Slomski A. Antipsychotic Use During Pregnancy Isn’t Harmful to Children. Jama. 2021; 326(17): 1666.
