1. Abstracts for the American Academy for Cerebral Palsy and Developmental Medicine 21-24 September 2022. Dev Med Child Neurol;2022 (Sep);64 Suppl 4:3-138.

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2. Amadi CN, Orish CN, Frazzoli C, Orisakwe OE. Dietary interventions for autism spectrum disorder: An updated systematic review of human studies. Psychiatriki;2022 (Sep 19);33(3):228-242.

Autism is a complex spectrum of disorders with genetic, epigenetic, autoimmune, oxidative stress, and environmental etiologies. Treatment of ASD using dietary approach is a promising strategy, especially owing to its safety and availability. Our study critically analysed the roles and efficacy of antioxidants, probiotics, prebiotics, camel milk and vitamin D. This systematic review provides an updated synopsis of human studies that investigated therapeutic benefits of these dietary interventions in autism. A total of 943 papers were identified out of which 21 articles were included in the systematic review. The selected studies investigated the impact of 5 different dietary supplementations in ASD symptom and behaviours. These agents include; antioxidants/polyphenolic compounds, probiotics, prebiotics, camel milk and vitamin D. From the results of the present review, antioxidants/polyphenolic compounds decreased the levels of inflammatory cytokines and improved behavioural symptoms. Probiotics improved behavioural and GI symptoms as well as restored gut microbiota equilibrium. Prebiotics decreased levels of inflammatory cytokines, improved behavioural and GI symptoms and improved gut microbiota. Vitamin D improved behavioural symptoms and offered protective effects against neurotoxicity. Camel milk reduced inflammatory responses and oxidative stress. Given the chronic nature as well as early onset of ASD, dietary supplements become useful to complement nutritional deficiencies in children with ASD. Key benefits of these agents stem from their ability to target multiple physiological areas via the gut brain-axis and are devoid of potential harmful or aggravating effects on ASD patients. The evidence collated in this review propose that dietary intervention may provide a new platform for the management of autism.

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3. Chakraborty S, Bhatia T, Antony N, Roy A, Shriharsh V, Sahay A, Brar JS, Iyengar S, Singh R, Nimgaonkar VL, Deshpande SN. Comparing the Indian Autism Screening Questionnaire (IASQ) and the Indian Scale for Assessment of Autism (ISAA) with the Childhood Autism Rating Scale-Second Edition (CARS2) in Indian settings. PLoS One;2022;17(9):e0273780.

The Indian Autism Screening Questionnaire (IASQ), derived from the Indian Scale for Assessment of Autism ISAA (the mandated tool for autism in India), is an autism screening instrument for use in the general population by minimally trained workers. While ISAA has 40 items with four anchor points, the IASQ is a 10-item questionnaire with yes/no answers. It was initially validated using the ISAA. During its development the ISAA was itself compared to the Childhood Autism Rating Scale version 1 (ISAA Manual). In the present study, we evaluated both the ISAA and the IASQ in relation to the Childhood Autism Rating Scale version 2 (CARS-2). METHODS: Participants were recruited from three settings: a referral clinic for neurodevelopmental conditions run by the Department of Paediatrics of a tertiary care teaching hospital (NDC OPD), the outpatient department of an institute for disability and rehabilitation (NIEPID), and from the community (CGOC). Persons between ages 3-18 were recruited following consent or assent (parent and child/adolescent). The IASQ was administered by a minimally trained administrator. It was followed by ISAA and the CARS-2 (in alternating order, by different evaluators blind to each other) (CARS2 SV (Standard Version) and CARS2 HF (High Functioning) as applicable). Sensitivity, specificity and area under the Receiver Operator Characteristics (ROC) curve were calculated for IASQ and CARS2, as well as for ISAA and CARS2. Concordance between CARS2 and ISAA was calculated using kappa coefficient. RESULTS: A total of 285 participants (NIEPD n = 124; NDC OPD, n = 4; CGOC n = 157) (a total of 70 with autism and 215 controls) participated. IASQ and CARS2 were administered on 285 participants, while IASQ and ISAA were administered on 264 participants. When IASQ was compared to CARS2, sensitivity was 97%, specificity 81%, PPV 63%, NPV 99% at cut off 1 while these values were 97%, 92%, 79% and 99% respectively at cut off 2. There was high concordance between CARS2 and ISAA (Kappa 0.907, p<0.0001). CONCLUSIONS: IASQ has satisfactory sensitivity, specificity and concordance when compared with CARS2; it can be used for screening children with autism in community. The ISAA also showed a high concordance with CARS2, as it had with the older version of CARS.

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4. Chhatbar K, Connelly J, Webb S, Kriaucionis S, Bird A. A critique of the hypothesis that CA repeats are primary targets of neuronal MeCP2. Life Sci Alliance;2022 (Dec);5(12)

The DNA-binding protein MeCP2 is reported to bind methylated cytosine in CG and CA motifs in genomic DNA, but it was recently proposed that arrays of tandemly repeated CA containing either methylated or hydroxymethylated cytosine are the primary targets for MeCP2 binding and function. Here we investigated the predictions of this hypothesis using a range of published datasets. We failed to detect enrichment of cytosine modification at genomic CA repeat arrays in mouse brain regions and found no evidence for preferential MeCP2 binding at CA repeats. Moreover, we did not observe a correlation between the CA repeat density near genes and their degree of transcriptional deregulation when MeCP2 was absent. Our results do not provide support for the hypothesis that CA repeats are key mediators of MeCP2 function. Instead, we found that CA repeats are subject to CAC methylation to a degree that is typical of the surrounding genome and contribute modestly to MeCP2-mediated modulation of gene expression in accordance with their content of this canonical target motif.

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5. Como DH, Floríndez-Cox LI, Stein Duker LI, Polido JC, Jones BP, Lawlor M, Cermak SA. Oral Care Knowledge, Attitudes, and Practices of Black/African American Caregivers of Autistic Children and Non-Autistic Children. Children (Basel);2022 (Sep 19);9(9)

Oral health is a vital component of overall health. Children from underserved, minoritized populations (i.e., Black/African Americans, autistic children) are at even greater risk for experiencing oral health disparities. This study aims to illuminate the oral health knowledge, attitudes, and practices of Black/African American caregivers of autistic and non-autistic children. Black/African American caregivers of children (4-to-14 years) on the autism spectrum (n = 65) or not on the autism spectrum (n = 60), participated in a survey, with input from literature reviews, interviews, previous research, and reviews by experts. Caregivers demonstrated basic knowledge of oral health with significantly lower scores for caregivers of autistic children. Caregivers care about oral health and would like to increase their knowledge. Significant differences in oral care practices were found between the autistic and non-autistic groups. Caregivers reported they can access dental services with relative ease, including finding their child a dentist, scheduling a dental appointment, and accessing transportation (personal or public) to attend the visit. Black/African American caregivers of autistic children and children without autism seem to have foundational knowledge about oral health and basic practices; however, they are interested in learning more. Therefore, tailored oral health education programs may help mitigate oral health disparities for Black/African American families.

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6. Conner CM, Kim PS, White SW, Mazefsky CA. The role of emotion dysregulation and intolerance of uncertainty in autism: Transdiagnostic factors influencing co-occurring conditions. Res Dev Disabil;2022 (Sep 15);130:104332.

BACKGROUND: Individuals with autism spectrum disorders (ASD) are more likely to have co-occurring psychiatric conditions such as depression and anxiety. Transdiagnostic constructs such as intolerance of uncertainty (IU) and emotion dysregulation (ED) have both been shown to be individually associated with depression and anxiety in those with ASD. AIMS: The current study examined the relationship between IU and ED, depression, and anxiety in an ED treatment-seeking sample and examined whether ED acts as a mediator between IU-depression and IU-anxiety. METHODS AND PROCEDURES: We examined baseline scores for 78 adolescents and young adults (12-21 years old) who were participating in an ED treatment. We assessed for correlations between IU, Reactivity and Dysphoria, anxiety, and depression symptoms, and then conducted mediation analyses to determine whether Reactivity and Dysphoria functioned as a mediator in IU- anxiety and IU- depression relationships. OUTCOMES AND RESULTS: Concordant with prior research, ED, IU, anxiety, and depression scores were correlated. Both Reactivity and Dysphoria were found to mediate both IU-depression and IU-anxiety. CONCLUSIONS AND IMPLICATIONS: Findings suggest that ED contributes to how IU affects psychopathology. Furthermore, both IU and ED may be pertinent treatment targets for individuals with depression or anxiety and ASD.

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7. Hernandez-Ruiz E, Lehrer G. « Music Therapy Was Never on the Table »: Perspectives of Parents of Young Autistic Children. J Music Ther;2022 (Sep 19);59(3):307-339.

Parent coaching of music interventions is emerging as a viable model for families with young autistic children, yet recruitment difficulties have been apparent in previous studies. Understanding parent perspectives of early intervention services is critical to ensure that interventions are acceptable, feasible, and effective for all family members. In order to understand possible parental resistance to this type of parent education, we explored perspectives regarding music therapy, research, and parent coaching in parents of young autistic children. Fourteen parents attended virtual focus groups to discuss their experiences. We used a descriptive phenomenological approach to uncover the essence of their experience. Our findings indicate that, contrary to our preconceptions, participants did not show negative dispositions towards music therapy, research, or parent coaching. Instead, most participants had very little or no knowledge of music therapy services. They had limited experience with research in general, and only two participants had experienced music therapy directly. Several participants had varying amounts of experience with parent participation or parent coaching outside of music therapy and shared positive experiences with it. Parents seemed willing and eager to learn music strategies to support their children and saw value in the use of music for their child’s development. First-contact providers (i.e., early interventionists and diagnosticians) and social media seem influential in parents’ decision-making as they navigate early intervention services soon after diagnosis. Music therapy organizations are encouraged to design targeted efforts to make information on music therapy available through these sources.

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8. Muscatello RA, Rafatjoo E, Mirpuri KK, Kim A, Vandekar S, Corbett BA. Salivary testosterone in male and female youth with and without autism spectrum disorder: considerations of development, sex, and diagnosis. Mol Autism;2022 (Sep 19);13(1):37.

BACKGROUND: Puberty is characterized by significant physical, hormonal, and psychological changes, which may be especially challenging for individuals with autism spectrum disorder (ASD). Although the etiology of ASD remains uncertain, studies suggest imbalances in hormones, such as testosterone, may modulate the autism phenotype. While differences in fetal and postnatal testosterone have been reported, there is limited literature regarding testosterone variations during adolescence in ASD. We investigated morning salivary testosterone levels in youth with ASD and typical development (TD) to explore hypothesized differences, expecting elevated hormonal levels in ASD compared to TD. METHODS: Youth with ASD (n = 140) and TD (n = 104), ages 10 to 13 years, were enrolled as part of a longitudinal study on pubertal development. Pubertal stage was determined by gold standard physical examination, and salivary testosterone was collected in the morning immediately upon waking and 30 min after waking and averaged across 3 days. Diagnostic (ASD/TD) and sex (male/female) differences, as well as interactions with age and puberty, were examined using robust linear mixed effect models. RESULTS: Youth with ASD showed significantly elevated testosterone concentrations compared to same-age TD peers. After the inclusion of natural cubic splines to account for nonlinearity in age, a significant age-by-sex interaction emerged with distinct developmental slopes for males and females. At younger ages, females had higher testosterone, until about 11.5 years of age, when levels began to plateau, while male testosterone concentrations continued to rapidly increase and surpass females. As expected, more advanced pubertal development was associated with elevated testosterone. In contrast, no significant effect of parent-reported social communication symptoms was observed. LIMITATIONS: Limitations include an unequal sex distribution, non-representative sample (e.g., cognition and race/ethnicity), and inability to examine afternoon/evening testosterone due to detection limits. CONCLUSIONS: Testosterone may play a unique role in the presentation of ASD, especially during periods of dynamic hormonal changes including puberty. Inherent developmental (age, puberty) and sex-based (male, female) factors play a more prominent role in changes in testosterone levels during adolescence. Even so, future research is warranted to determine the differential expression and impact of exposure to excess testosterone during the pubertal transition for youth with ASD.

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9. Ntre V, Papanikolaou Κ, Amanaki E, Triantafyllou K, Tzavara C, Kolaitis G. Coping Strategies in mothers of children with autism spectrum disorder and their relation to maternal stress and depression. Psychiatriki;2022 (Sep 19);33(3):210-218.

Having a child with autism may have a strong impact on the family, especially on mothers, who are usually the primary caregivers of children with autism. Parents of children with autism report more mental health problems compared to parents of children with typical development or other developmental disabilities. Parental copying strategies may play a significant role when parents have to overcome stressful situations during the child development. The present study aimed to investigate the coping strategies used by mothers of children with autism spectrum disorder (ASD), and their relation to maternal stress and depression. One hundred and forty-three (143) mothers (mean age 42.7 years) of children with ASD (6-17years), who attended the ASD Outpatient Clinic of the Department of Child Psychiatry, at a Children’s Hospital, participated in the current study. Mothers completed a series of questionnaires: a demographic characteristics questionnaire, the Center for Epidemiologic Studies Depression Scale (CES-D), the Family Crisis Oriented Personal Scales (F-COPES), and the Parenting Stress Index Short-Form (PSI-SF). Mothers with higher educational level scored significantly lower in total F-COPES and its subscale « reframing ». Increased daily hours related to child care and the child’s medication were additional factors significantly associated with lower scores on « reframing ». Reframing subscale was also negatively correlated with « parental distress », whereas « passive appraisal » was positively correlated with depressive symptoms. Lower scores on « mobilizing family to acquire » and « accept help » were associated with family life being more seriously affected. Coping strategies of mothers of children with ASD are associated with a number of factors related to personal characteristics of caregivers, child treatment and family characteristics. Mental health professionals should examine factors that may strengthen coping strategies that handle the challenges of having a child with ASD.

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10. Piccoli E, Hollander E. Editor’s Commentary: Problematic Use of the internet in Autism Spectrum Disorder: A canary in the coal mine?. J Psychiatr Res;2022 (Sep 12);155:260-262.

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11. Scharrenberg R, Richter M, Johanns O, Meka DP, Rücker T, Murtaza N, Lindenmaier Z, Ellegood J, Naumann A, Zhao B, Schwanke B, Sedlacik J, Fiehler J, Hanganu-Opatz IL, Lerch JP, Singh KK, de Anda FC. TAOK2 rescues autism-linked developmental deficits in a 16p11.2 microdeletion mouse model. Mol Psychiatry;2022 (Sep 19)

The precise development of the neocortex is a prerequisite for higher cognitive and associative functions. Despite numerous advances that have been made in understanding neuronal differentiation and cortex development, our knowledge regarding the impact of specific genes associated with neurodevelopmental disorders on these processes is still limited. Here, we show that Taok2, which is encoded in humans within the autism spectrum disorder (ASD) susceptibility locus 16p11.2, is essential for neuronal migration. Overexpression of de novo mutations or rare variants from ASD patients disrupts neuronal migration in an isoform-specific manner. The mutated TAOK2α variants but not the TAOK2β variants impaired neuronal migration. Moreover, the TAOK2α isoform colocalizes with microtubules. Consequently, neurons lacking Taok2 have unstable microtubules with reduced levels of acetylated tubulin and phosphorylated JNK1. Mice lacking Taok2 develop gross cortical and cortex layering abnormalities. Moreover, acute Taok2 downregulation or Taok2 knockout delayed the migration of upper-layer cortical neurons in mice, and the expression of a constitutively active form of JNK1 rescued these neuronal migration defects. Finally, we report that the brains of the Taok2 KO and 16p11.2 del Het mouse models show striking anatomical similarities and that the heterozygous 16p11.2 microdeletion mouse model displayed reduced levels of phosphorylated JNK1 and neuronal migration deficits, which were ameliorated upon the introduction of TAOK2α in cortical neurons and in the developing cortex of those mice. These results delineate the critical role of TAOK2 in cortical development and its contribution to neurodevelopmental disorders, including ASD.

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12. Talli I, Dovrolis N, Oulas A, Stavrakaki S, Makedou K, Spyrou GM, Maroulakou I. Novel clinical, molecular and bioinformatics insights into the genetic background of autism. Hum Genomics;2022 (Sep 18);16(1):39.

BACKGROUND: Clinical classification of autistic patients based on current WHO criteria provides a valuable but simplified depiction of the true nature of the disorder. Our goal is to determine the biology of the disorder and the ASD-associated genes that lead to differences in the severity and variability of clinical features, which can enhance the ability to predict clinical outcomes. METHOD: Novel Whole Exome Sequencing data from children (n = 33) with ASD were collected along with extended cognitive and linguistic assessments. A machine learning methodology and a literature-based approach took into consideration known effects of genetic variation on the translated proteins, linking them with specific ASD clinical manifestations, namely non-verbal IQ, memory, attention and oral language deficits. RESULTS: Linear regression polygenic risk score results included the classification of severe and mild ASD samples with a 81.81% prediction accuracy. The literature-based approach revealed 14 genes present in all sub-phenotypes (independent of severity) and others which seem to impair individual ones, highlighting genetic profiles specific to mild and severe ASD, which concern non-verbal IQ, memory, attention and oral language skills. CONCLUSIONS: These genes can potentially contribute toward a diagnostic gene-set for determining ASD severity. However, due to the limited number of patients in this study, our classification approach is mostly centered on the prediction and verification of these genes and does not hold a diagnostic nature per se. Substantial further experimentation is required to validate their role as diagnostic markers. The use of these genes as input for functional analysis highlights important biological processes and bridges the gap between genotype and phenotype in ASD.

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