Pubmed du 26/03/21
1. Achilly NP, Wang W, Zoghbi HY. Presymptomatic training mitigates functional deficits in a mouse model of Rett syndrome. Nature. 2021; 592(7855): 596-600.
Mutations in the X-linked gene MECP2 cause Rett syndrome, a progressive neurological disorder in which children develop normally for the first one or two years of life before experiencing profound motor and cognitive decline(1-3). At present there are no effective treatments for Rett syndrome, but we hypothesized that using the period of normal development to strengthen motor and memory skills might confer some benefit. Here we find, using a mouse model of Rett syndrome, that intensive training beginning in the presymptomatic period dramatically improves the performance of specific motor and memory tasks, and significantly delays the onset of symptoms. These benefits are not observed when the training begins after symptom onset. Markers of neuronal activity and chemogenetic manipulation reveal that task-specific neurons that are repeatedly activated during training develop more dendritic arbors and have better neurophysiological responses than those in untrained animals, thereby enhancing their functionality and delaying symptom onset. These results provide a rationale for genetic screening of newborns for Rett syndrome, as presymptomatic intervention might mitigate symptoms or delay their onset. Similar strategies should be studied for other childhood neurological disorders.
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2. Adamou M, Jones SL, Fullen T, Galab N, Abbott K, Yasmeen S. Remote assessment in adults with Autism or ADHD: A service user satisfaction survey. PloS one. 2021; 16(3): e0249237.
Advances in digital health have enabled clinicians to move away from a reliance on face to face consultation methods towards making use of modern video and web-based conferencing technology. In the context of the COVID-19 pandemic, remote telecommunication methods have become much more common place in mental health settings. The current study sought to investigate whether remote telecommunication methods are preferable to face to face consultations for adults referred to an Autism and ADHD Service during the COVID-19 pandemic. Also, whether there are any differences in preferred consultation methods between adults who were referred for an assessment of Autism as opposed to ADHD. 117 service users who undertook assessment by the ADHD and Autism Service at South West Yorkshire NHS Partnership Foundation Trust from April to September 2020 completed an adapted version of the Telehealth Usability Questionnaire (TUQ). Results demonstrated that service users found remote telecommunication to be useful, effective, reliable and satisfactory. Despite this, almost half of service users stated a general preference for face to face consultations. There was no difference in the choice of methods of contact between Autism and ADHD pathways. Remote telecommunication methods were found to be an acceptable medium of contact for adults who undertook an assessment of Autism and ADHD at an NHS Service during the COVID-19 pandemic.
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3. Almasri NA, Dunst CJ, Saleh M, Tayyem R. Development and Psychometric Properties of the Arabic Parent Nutritional Assessment Scale (A-PNAS) for Children with Developmental Disabilities. Physical & occupational therapy in pediatrics. 2021; 41(6): 670-85.
Aims: To describe the development of the Arabic-Parent Nutritional Assessment Scale (A-PNAS), and to examine construct and known-group discriminant validity, internal consistency, and test-retest reliability of the A-PNAS.Methods: A cross-sectional design was used. Participants were 130-children with CP (mean age = 4.26 ± 3.29 years) who were registered in the national CP registry of Jordan with a matching group of 130-children with typical development (mean age = 4.65 ± 3.54 years). Parents completed the developed A-PNAS through a structured phone interview. Parents of children with CP confirmed their child’s level of gross motor function classification system.Results: Exploratory factor analysis identified three subscales in the A-PNAS: Food Intake Problems, Health Problems, and Behavioral Problems which explained 31.6% of the variance in nutritional problems of children with CP. Cronbach’s alpha indicated acceptable internal consistency for Food Intake (α = 0.61) and Health Problems (α = 0.67)subscales. Parents of children with CP reported that their children had more food intake, health, and behavioral problems compared to children with typical development (p<.001). Test-retest reliability was excellent for the subscales of the A-PNAS (ICCs = 0.96, 0.98, 0.96).Conclusions: The findings provide support for the face validity, construct validity, internal consistency, Known-Groups discriminant validity, and test-retest reliability of the A-PNAS.
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4. Cermak CA, Arshinoff S, Ribeiro de Oliveira L, Tendera A, Beal DS, Brian J, Anagnostou E, Sanjeevan T. Brain and Language Associations in Autism Spectrum Disorder: A Scoping Review. Journal of autism and developmental disorders. 2022; 52(2): 725-37.
Examining brain and behaviour associations for language in autism spectrum disorder (ASD) may bring us closer to identifying neural profiles that are unique to a subgroup of individuals with ASD identified as language impaired (e.g. ASD LI+). We conducted a scoping review to examine brain regions that are associated with language performance in ASD. Further, we examined methodological differences across studies in how language ability was characterized and what neuroimaging methods were used to explore brain regions. Seventeen studies met inclusion criteria. Brain regions specific to ASD LI+ groups were found, however inconsistencies in brain and language associations were evident across study findings. Participant age, age-appropriate language scores, and neuroimaging methods likely contributed to differences in associations found.
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5. Chopik WJ, Oh J, Nuttall AK, Thakkar KN, Ingersoll B. Age differences in broader autism phenotype traits from young adulthood to older adulthood. Autism research : official journal of the International Society for Autism Research. 2021; 14(7): 1456-71.
Much of past research has been dedicated to refining the operationalization and correlates of the broader autism phenotype (BAP) and less on how the BAP differs by socio-demographic characteristics, like age-particularly after midlife. This gap is important because other nonclinical trait-like characteristics (e.g., personality) have shown considerable age differences, leading to work assessing the malleability of psychological characteristics and improving outcomes for individuals and their significant others. In the current study, we examined cross-sectional age differences in the BAP in a large sample of adults ranging in age from 18 to 85. We recruited a sample of 2966 adults ranging in age from 18 to 85 (M(age) = 36.53, SD = 12.61; 58.9% Female; 1.1% with an ASD diagnosis) recruited from an online survey service. We found that total BAP scores were higher in younger adults and lower among older adults. These differences were particularly true for pragmatic language difficulties, with this component of the BAP showing the most dramatic age differences. Aloofness showed similar negative associations with age, albeit much smaller. Rigidity was not significantly associated with age. The results are consistent with other research showing an abatement of symptoms among individuals with autism spectrum disorders (ASDs) across early life and theories predicting changes in other psychological characteristics (e.g., personality). The results are discussed in the context of the malleability of ASD and BAP traits across life, the clinical implications of these changes, and the origins and consequences for lifespan differences in BAP. LAY SUMMARY: Little is known about how subclinical autistic-like traits among middle-aged and older adults compare to younger adults. We found that these subclinical traits were highest in young adults and lowest in older adults. Knowing how these traits differ by age can provide researchers and clinicians with a sense of how much these traits might change across life, if the traits might be sensitive to interventions, and when in development it might be best to intervene.
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6. Duval R, Nicolas G, Willemetz A, Murakami Y, Mikdar M, Vrignaud C, Megahed H, Cartron JP, Masson C, Wehbi S, Koehl B, Hully M, Siquier K, Chemlay N, Rotig A, Lyonnet S, Colin Y, Barcia G, Cantagrel V, Le Van Kim C, Hermine O, Kinoshita T, Peyrard T, Azouzi S. Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders. Blood. 2021; 137(26): 3660-9.
Glycosylphosphatidylinositol (GPI) is a glycolipid that anchors >150 proteins to the cell surface. Pathogenic variants in several genes that participate in GPI biosynthesis cause inherited GPI deficiency disorders. Here, we reported that homozygous null alleles of PIGG, a gene involved in GPI modification, are responsible for the rare Emm-negative blood phenotype. Using a panel of K562 cells defective in both the GPI-transamidase and GPI remodeling pathways, we show that the Emm antigen, whose molecular basis has remained unknown for decades, is carried only by free GPI and that its epitope is composed of the second and third ethanolamine of the GPI backbone. Importantly, we show that the decrease in Emm expression in several inherited GPI deficiency patients is indicative of GPI defects. Overall, our findings establish Emm as a novel blood group system, and they have important implications for understanding the biological function of human free GPI.
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7. Hollestein V, Buitelaar JK, Brandeis D, Banaschewski T, Kaiser A, Hohmann S, Oranje B, Gooskens B, Durston S, Williams SCR, Lythgoe DJ, Naaijen J. Developmental changes in fronto-striatal glutamate and their association with functioning during inhibitory control in autism spectrum disorder and obsessive compulsive disorder. NeuroImage Clinical. 2021; 30: 102622.
Autism spectrum disorder (ASD) and obsessive compulsive disorder (OCD) show overlapping symptomatology and deficits in inhibitory control, which are associated with altered functioning and glutamatergic signaling in fronto-striatal circuitry. These parameters have never been examined together. The purpose of the current study was to investigate functioning during inhibitory control and its association with fronto-striatal glutamate concentrations across these disorders using a multi-center, longitudinal approach. Adolescents with ASD (n = 24), OCD (n = 15) and controls (n = 35) underwent two magnetic resonance imaging (MRI) sessions with a one-year interval. This included proton magnetic resonance spectroscopy ((1)H-MRS; n = 74) and functional MRI during an inhibitory control task (n = 53). We investigated (1)H-MRS data and fMRI data separately as well as integrated in a multimodal analysis using linear models focusing on diagnosis and continuous measures of overlapping compulsivity symptoms. ACC glutamate was reduced over time in the ASD group compared with controls, while striatal glutamate decreased over time independent of diagnosis. Increased compulsive behavior seemed to be associated with increased striatal activity during failed inhibitory control. The integrated analyses showed differential involvement of increased striatal glutamate during failed but decreased striatal glutamate during successful inhibitory control in the OCD group compared to controls and ASD, suggesting different underlying mechanisms for OCD compared to ASD.
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8. Lai YYL, Downs J, Zafar S, Wong K, Walsh L, Leonard H. Oral health care and service utilisation in individuals with Rett syndrome: an international cross-sectional study. Journal of intellectual disability research : JIDR. 2021; 65(6): 561-76.
BACKGROUND: There is a dearth of literature available on the comparative oral health status of those with Rett syndrome (RTT) despite diurnal bruxism being a supportive diagnostic criterion for the disorder. This study was designed to investigate the dental experiences of individuals with RTT in terms of perceived at-home and professional dental care. METHODS: Using data in the InterRett database, provided by English-speaking families of individuals with a confirmed MECP2 genetic mutation, the study investigated relationships between dental problems, oral care, child factors including bruxism and use of gastrostomy, and socioeconomic indicators. The study also explored relationships between dental presentations and socioeconomic, child, and family-related factors. RESULTS: Individuals with RTT exhibiting bruxism were more likely to access dental treatment. Those who had full oral feeding had a higher incidence rate of dental treatment than those with full tube feeding. A conservative (under) estimation of the overall dental caries progression rate revealed that this may be similar to that of the normal population. CONCLUSIONS: Drivers for dental treatment in RTT include bruxism as well as dental caries. Those who have full oral feeding experience more dental treatment than those with full tube feeding. A higher maternal education level may confer a protective effect for oral health outcomes in those with RTT. Nevertheless, families generally tended to value the importance of oral health despite reported difficulties in day-to-day mouth care.
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9. Lin CH, Chou IC, Hong SY. Genetic factors and the risk of drug-resistant epilepsy in young children with epilepsy and neurodevelopment disability: A prospective study and updated meta-analysis. Medicine. 2021; 100(12): e25277.
Drug-resistant epilepsy (DRE) affects 7% to 20% of children with epilepsy. Although some risk factors for DRE have been identified, the results have not been consistent. Moreover, data regarding the risk factors for epilepsy and its seizure outcome in the first 2 years of life are limited.We analyzed data for children aged 0 to 2 years with epilepsy and neurodevelopmental disability from January, 2013, through December, 2017. These patients were followed up to compare the risk of DRE in patients with genetic defect (genetic group) with that without genetic defect (nongenetic group). Additionally, we conducted a meta-analysis to identify the pooled prevalence of genetic factors in children with DRE.A total of 96 patients were enrolled. A total of 68 patients were enrolled in the nongenetic group, whereas 28 patients were enrolled in the genetic group. The overall DRE risk in the genetic group was 6.5 times (95% confidence interval [CI], 2.15-19.6; p = 0.03) higher than that in the nongenetic group. Separately, a total of 1308 DRE patients were participated in the meta-analysis. The pooled prevalence of these patients with genetic factors was 22.8% (95% CI 17.4-29.3).The genetic defect plays a crucial role in the development of DRE in younger children with epilepsy and neurodevelopmental disability. The results can serve as a reference for further studies of epilepsy panel design and may also assist in the development of improved treatments and prevention strategies for DRE.
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10. Palkova L, Tomova A, Repiska G, Babinska K, Bokor B, Mikula I, Minarik G, Ostatnikova D, Soltys K. Evaluation of 16S rRNA primer sets for characterisation of microbiota in paediatric patients with autism spectrum disorder. Scientific reports. 2021; 11(1): 6781.
intestinal microbiota is becoming a significant marker that reflects differences between health and disease status also in terms of gut-brain axis communication. Studies show that children with autism spectrum disorder (ASD) often have a mix of gut microbes that is distinct from the neurotypical children. Various assays are being used for microbiota investigation and were considered to be universal. However, newer studies showed that protocol for preparing DNA sequencing libraries is a key factor influencing results of microbiota investigation. The choice of DNA amplification primers seems to be the crucial for the outcome of analysis. In our study, we have tested 3 primer sets to investigate differences in outcome of sequencing analysis of microbiota in children with ASD. We found out that primers detected different portion of bacteria in samples especially at phylum level; significantly higher abundance of Bacteroides and lower Firmicutes were detected using 515f/806r compared to 27f/1492r and 27f*/1495f primers. So, the question is whether a gold standard of Firmicutes/Bacteroidetes ratio is a valuable and reliable universal marker, since two primer sets towards 16S rRNA can provide opposite information. Moreover, significantly higher relative abundance of Proteobacteria was detected using 27f/1492r. The beta diversity of sample groups differed remarkably and so the number of observed bacterial genera.
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11. Peltier C, Muharib R, Haas A, Dowdy A. A Decade Review of Two Potential Analysis Altering Variables in Graph Construction. Journal of autism and developmental disorders. 2022; 52(2): 714-24.
In single-case research designs (SCDs) to determine a functional relation a time-series graph is constructed. Preliminary evidence suggest the approach used to scale the vertical axis and the data points per x- to y-axis ratio (DPPXYR) impact visual analysts’ decisions. We conducted a systematic review to evaluate time-series graphs published in the last decade in four premier journals in the field of autism. We included 348 articles including 2675 graphs. We identified large variation across and within types of SCDs when evaluating the lengths of the vertical and horizontal axis using the y:x ratio and the DPPXYR, with few adhering to current recommendations. A majority of graphs used an appropriate method to scale the vertical axis that would not increase Type I error rates.
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12. Simpson K, Adams D, Ambrose K, Keen D. « My cheeks get red and my brain gets scared »: A computer assisted interview to explore experiences of anxiety in young children on the autism spectrum. Research in developmental disabilities. 2021; 113: 103940.
BACKGROUND: Anxiety symptoms are common in children on the autism spectrum and may be present at an early age. While a multi-informant approach is considered best practice in the assessment of anxiety, self-reports from young children on the autism spectrum are rarely included. AIMS: The aim of this study was to utilise a computer-assisted interview procedure incorporating visual prompts to elicit the viewpoints of children about their experiences of anxiety. METHODS AND PROCEDURES: Ten children aged 5-8 years who were diagnosed on the autism spectrum completed the interview. Directed content analysis was used to explore the data generated in the interview. OUTCOMES AND RESULTS: A wide range of situations that trigger anxiety, and responses to anxiety, were reported across the participant group. These responses may be unrecognised as anxiety by others. The children provided positive feedback on the use of the computer-assisted interview. CONCLUSIONS AND IMPLICATIONS: The child’s own self-report can inform parents and professionals of the situations which make them more or less anxious and the behaviours that they use to communicate their anxiety in that specific situation. The use of a computer-assisted interview may be an effective method to support self-report of anxiety-related experiences for young children on the autism spectrum.
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13. Skogheim TS, Weyde KVF, Engel SM, Aase H, Surén P, Øie MG, Biele G, Reichborn-Kjennerud T, Caspersen IH, Hornig M, Haug LS, Villanger GD. Metal and essential element concentrations during pregnancy and associations with autism spectrum disorder and attention-deficit/hyperactivity disorder in children. Environment international. 2021; 152: 106468.
BACKGROUND: Prenatal exposure to toxic metals or variations in maternal levels of essential elements during pregnancy may be a risk factor for neurodevelopmental disorders such as attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) in offspring. OBJECTIVES: We investigated whether maternal levels of toxic metals and essential elements measured in mid-pregnancy, individually and as mixtures, were associated with childhood diagnosis of ADHD or ASD. METHODS: This study is based on the Norwegian Mother, Father and Child Cohort Study and included 705 ADHD cases, 397 ASD cases and 1034 controls. Cases were identified through linkage with the Norwegian Patient Registry. Maternal concentrations of 11 metals/elements were measured in blood at week 17 of gestation; cadmium; cesium; cobalt; copper; lead; magnesium; manganese; selenium; zinc; total arsenic; and total mercury. Multivariable adjusted logistic regression models were used to examine associations between quartile levels of individual metals/elements and outcomes. We also investigated non-linear associations using restricted cubic spline models. The joint effects of the metal/element mixture on ASD and ADHD diagnoses were estimated using a quantile-based g-computation approach. RESULTS: For ASD, we identified positive associations (increased risks) in the second quartile of arsenic [OR = 1.77 (CI: 1.26, 2.49)] and the fourth quartiles of cadmium and manganese [OR = 1.57 (CI: 1.07 2.31); OR = 1.84 (CI: 1.30, 2.59)], respectively. In addition, there were negative associations between cesium, copper, mercury, and zinc and ASD. For ADHD, we found increased risk in the fourth quartiles of cadmium and magnesium [OR = 1.59 (CI: 1.15, 2.18); [OR = 1.42 (CI: 1.06, 1.91)]. There were also some negative associations, among others with mercury. In addition, we identified non-linear associations between ASD and arsenic, mercury, magnesium, and lead, and between ADHD and arsenic, copper, manganese, and mercury. There were no significant findings in the mixture approach analyses. CONCLUSION: Results from the present study show several associations between levels of metals and elements during gestation and ASD and ADHD in children. The most notable ones involved arsenic, cadmium, copper, mercury, manganese, magnesium, and lead. Our results suggest that even population levels of these compounds may have negative impacts on neurodevelopment. As we observed mainly similarities among the metals’ and elements’ impact on ASD and ADHD, it could be that the two disorders share some neurochemical and neurodevelopmental pathways. The results warrant further investigation and replication, as well as studies of combined effects of metals/elements and mechanistic underpinnings.
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14. Taleb A, Lin W, Xu X, Zhang G, Zhou QG, Naveed M, Meng F, Fukunaga K, Han F. Emerging mechanisms of valproic acid-induced neurotoxic events in autism and its implications for pharmacological treatment. Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie. 2021; 137: 111322.
Autism spectrum disorder (ASD) is a sort of mental disorder marked by deficits in cognitive and communication abilities. To date no effective cure for this pernicious disease has been available. Valproic acid (VPA) is a broad-spectrum, antiepileptic drug, and it is also a potent teratogen. Epidemiological studies have shown that children exposed to VPA are at higher risk for ASD during the first trimester of their gestational development. Several animal and human studies have demonstrated important behavioral impairments and morphological changes in the brain following VPA treatment. However, the mechanism of VPA exposure-induced ASD remains unclear. Several factors are involved in the pathological phase of ASD, including aberrant excitation/inhibition of synaptic transmission, neuroinflammation, diminished neurogenesis, oxidative stress, etc. In this review, we aim to outline the current knowledge of the critical pathophysiological mechanisms underlying VPA exposure-induced ASD. This review will give insight toward understanding the complex nature of VPA-induced neuronal toxicity and exploring a new path toward the development of novel pharmacological treatment against ASD.
