1. Rett syndrome. Nat Rev Dis Primers. 2024; 10(1): 85.

Lien vers le texte intégral (Open Access ou abonnement)

2. Auwerx C, Kutalik Z, Reymond A. The pleiotropic spectrum of proximal 16p11.2 CNVs. Am J Hum Genet. 2024; 111(11): 2309-46.

Recurrent genomic rearrangements at 16p11.2 BP4-5 represent one of the most common causes of genomic disorders. Originally associated with increased risk for autism spectrum disorder, schizophrenia, and intellectual disability, as well as adiposity and head circumference, these CNVs have since been associated with a plethora of phenotypic alterations, albeit with high variability in expressivity and incomplete penetrance. Here, we comprehensively review the pleiotropy associated with 16p11.2 BP4-5 rearrangements to shine light on its full phenotypic spectrum. Illustrating this phenotypic heterogeneity, we expose many parallels between findings gathered from clinical versus population-based cohorts, which often point to the same physiological systems, and emphasize the role of the CNV beyond neuropsychiatric and anthropometric traits. Revealing the complex and variable clinical manifestations of this CNV is crucial for accurate diagnosis and personalized treatment strategies for carrier individuals. Furthermore, we discuss areas of research that will be key to identifying factors contributing to phenotypic heterogeneity and gaining mechanistic insights into the molecular pathways underlying observed associations, while demonstrating how diversity in affected individuals, cohorts, experimental models, and analytical approaches can catalyze discoveries.

Lien vers le texte intégral (Open Access ou abonnement)

3. Berman L, Onyema I, Bieber E. Letter: Mirtazapine-Associated Hyperkinetic Movements in a 17-Year-Old with Autism Spectrum Disorder and Chronic Catatonia: A Case Report. J Child Adolesc Psychopharmacol. 2024.

Lien vers le texte intégral (Open Access ou abonnement)

4. Bertelli MO, Paletti F, Piva Merli M, Hassiotis A, Bianco A, Lassi S. Eating and feeding disorders in adults with intellectual developmental disorder with and without autism spectrum disorder. J Intellect Disabil Res. 2024.

BACKGROUND: The present observational cross-sectional study aimed at investigating the prevalence of feeding and eating disorders (FEEDs) in adults with intellectual disability (ID)/intellectual developmental disorder (IDD) with or without autism spectrum disorder (ASD) and specific problem behaviours (PBs). METHODS: Two hundred six adults with ID/IDD consecutively attending residential and rehabilitative facilities, 59.2% of which had co-occurring ASD, were assessed for presence of FEEDs by a structured interview specifically developed for the study and Diagnostic Manual – Intellectual Disability criteria. RESULTS: The 4.3% of the sample fully met the diagnostic criteria for anorexia nervosa, 6.7% for bulimia nervosa (BN) and 22.8% for binge eating disorder (BED). Furthermore, at least one observable symptom of these disorders was found in higher percentages of the sample. A higher prevalence of FEEDs was found in ID/IDD plus ASD than in ID/IDD alone. PBs were also significantly higher in participants with co-occurring ASD and had a positive correlation with the number of FEED symptoms, especially for BN and BED. CONCLUSIONS: The study enriches previous literature and considers novel aspects such as the behavioural/observable presentation of symptoms as well as the association with ASD and PBs. These issues deserve a specific consideration within standard psychiatric assessment and future research, especially in persons with major communication and/or cognitive difficulties.

Lien vers le texte intégral (Open Access ou abonnement)

5. Bhargav V, Venkatachari M, Arun Babu T. 17q12 microdeletion syndrome. BMJ Case Rep. 2024; 17(11).

An infant girl presented with multiple blisters followed by peeling of the skin over the entire body for 5 days with a prodrome of fever and cough. The child had dysmorphic facies, growth faltering and developmental delay. The ultrasonogram of the abdomen showed multiple small cysts in both kidneys with increased echogenicity and loss of corticomedullary differentiation. The whole exome sequencing revealed a 1.4 mb deletion on the long arm of chromosome 17, which also involves HNF1B gene. Diabetes workup showed an HbA1c of 5.9% with normal fasting glucose levels suggestive of a possible pre-diabetes. The renal functions were deranged with an estimated GFR of 22 mL/min/1.73 m(2) Keeping a possibility of staphylococcal scalded skin syndrome (SSSS), the child was treated successfully with appropriate antibiotics. This case depicts atypical presentation of 17q12 deletion syndrome with a very early onset chronic kidney disease, pre-diabetes and SSSS.

Lien vers le texte intégral (Open Access ou abonnement)

6. Edgar TC, Schlosser RW, Koul R. Socio-Communicative Behaviors Involving Minimally Speaking Autistic Preschoolers and Their Typically Developing Peers: Effects of an Augmentative and Alternative Communication Intervention Package. J Speech Lang Hear Res. 2024; 67(11): 4466-86.

PURPOSE: The purpose of this study was to examine the effectiveness of an augmentative and alternative communication (AAC) intervention package consisting of systematic instruction and aided AAC modeling with speech-output technology on the acquisition, maintenance, and generalization of socio-communicative behaviors in four minimally speaking, preschool-aged, autistic children. METHOD: A multiple-probe design across behaviors (i.e., initiating a request for a turn, answering questions, and commenting) replicated across participants was implemented to evaluate the effects of the intervention package on socio-communicative behaviors. Furthermore, a pretreatment and posttreatment multiple-generalization-probe design was used to assess generalization across typically developing peers who were not a part of the intervention. Maintenance data were collected 3 weeks post intervention. RESULTS: Visual analysis, corroborated by nonoverlapping of all pairs statistics, established a strong functional relationship between the AAC intervention package and all targeted socio-communicative outcomes for two participants. For the other two participants, inconsistent intervention effects were observed. In terms of generalization from interacting with the researcher to typically developing peers, a functional relationship between the intervention and generalization outcomes for all targeted behaviors was established for only one participant (i.e., Aiden). CONCLUSION: The outcomes of this study suggest that aided AAC modeling and systematic instruction using a speech-output technology may lead to gains in socio-communicative behaviors in some minimally speaking, preschool-aged, autistic children. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.27091879.

Lien vers le texte intégral (Open Access ou abonnement)

7. Fink JJ, Delaney-Busch N, Dawes R, Nanou E, Folts C, Harikrishnan K, Hempel C, Upadhyay H, Nguyen T, Shroff H, Stoppel D, Ryan SJ, Jacques J, Grooms J, Berry-Kravis E, Bear MF, Williams LA, Gerber D, Bunnage M, Furey B, Dempsey GT. Deep functional measurements of Fragile X syndrome human neurons reveal multiparametric electrophysiological disease phenotype. Commun Biol. 2024; 7(1): 1447.

Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by hypermethylation of expanded CGG repeats (>200) in the FMR1 gene leading to gene silencing and loss of Fragile X Messenger Ribonucleoprotein (FMRP) expression. FMRP plays important roles in neuronal function, and loss of FMRP in mouse and human FXS cell models leads to aberrant synaptic signaling and hyperexcitability. Multiple drug candidates have advanced into clinical trials for FXS, but no efficacious treatment has been identified to date, possibly as a consequence of poor translation from pre-clinical animal models to human. Here, we use a high resolution all-optical electrophysiology platform applied to multiple FXS patient-derived and CRISPR/Cas9-generated isogenic neuronal cell lines to develop a multi-parametric FXS disease phenotype. This neurophysiological phenotype was optimized and validated into a high throughput assay based on the amount of FMRP re-expression and the number of healthy neurons in a mosaic network necessary for functional rescue. The resulting highly sensitive and multiparameter functional assay can now be applied as a discovery platform to explore new therapeutic approaches for the treatment of FXS.

Lien vers le texte intégral (Open Access ou abonnement)

8. Gold WA, Percy AK, Neul JL, Cobb SR, Pozzo-Miller L, Issar JK, Ben-Zeev B, Vignoli A, Kaufmann WE. Rett syndrome. Nat Rev Dis Primers. 2024; 10(1): 84.

Rett syndrome (RTT) is a severe, progressive, neurodevelopmental disorder, which affects predominantly females. In most cases, RTT is associated with pathogenic variants in MECP2. MeCP2, the protein product of MECP2, is known to regulate gene expression and is highly expressed in the brain. RTT is characterized by developmental regression of spoken language and hand use that, with hand stereotypies and impaired ambulation, constitute the four core diagnostic features. Affected individuals may present multiple other neurological impairments and comorbidities, such as seizures, breathing irregularities, anxiety and constipation. Studies employing neuroimaging, neuropathology, neurochemistry and animal models show reductions in brain size and global decreases in neuronal size, as well as alterations in multiple neurotransmitter systems. Management of RTT is mainly focused on preventing the progression of symptoms, currently improved by guidelines based on natural history studies. Animal and cellular models of MeCP2 deficiency have helped in understanding the pathophysiology of RTT and guided the development of trofinetide, an IGF1-related compound, which is an approved drug for RTT, as well as of other drugs and gene therapies currently under investigation.

Lien vers le texte intégral (Open Access ou abonnement)

9. Gong M, Li J, Qin Z, Machado Bressan Wilke MV, Liu Y, Li Q, Liu H, Liang C, Morales-Rosado JA, Cohen ASA, Hughes SS, Sullivan BR, Waddell V, van den Boogaard MH, van Jaarsveld RH, van Binsbergen E, van Gassen KL, Wang T, Hiatt SM, Amaral MD, Kelley WV, Zhao J, Feng W, Ren C, Yu Y, Boczek NJ, Ferber MJ, Lahner C, Elliott S, Ruan Y, Mignot C, Keren B, Xie H, Wang X, Popp B, Zweier C, Piard J, Coubes C, Mau-Them FT, Safraou H, Innes AM, Gauthier J, Michaud JL, Koboldt DC, Sylvie O, Willems M, Tan WH, Cogne B, Rieubland C, Braun D, McLean SD, Platzer K, Zacher P, Oppermann H, Evenepoel L, Blanc P, El Khattabi L, Haque N, Dsouza NR, Zimmermann MT, Urrutia R, Klee EW, Shen Y, Du H, Rappaport L, Liu CM, Chen X. MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway. Am J Hum Genet. 2024; 111(11): 2392-410.

Microtubule affinity-regulating kinase 2 (MARK2) contributes to establishing neuronal polarity and developing dendritic spines. Although large-scale sequencing studies have associated MARK2 variants with autism spectrum disorder (ASD), the clinical features and variant spectrum in affected individuals with MARK2 variants, early developmental phenotypes in mutant human neurons, and the pathogenic mechanism underlying effects on neuronal development have remained unclear. Here, we report 31 individuals with MARK2 variants and presenting with ASD, other neurodevelopmental disorders, and distinctive facial features. Loss-of-function (LoF) variants predominate (81%) in affected individuals, while computational analysis and in vitro expression assay of missense variants supported the effect of MARK2 loss. Using proband-derived and CRISPR-engineered isogenic induced pluripotent stem cells (iPSCs), we show that MARK2 loss leads to early neuronal developmental and functional deficits, including anomalous polarity and dis-organization in neural rosettes, as well as imbalanced proliferation and differentiation in neural progenitor cells (NPCs). Mark2(+/-) mice showed abnormal cortical formation and partition and ASD-like behavior. Through the use of RNA sequencing (RNA-seq) and lithium treatment, we link MARK2 loss to downregulation of the WNT/β-catenin signaling pathway and identify lithium as a potential drug for treating MARK2-associated ASD.

Lien vers le texte intégral (Open Access ou abonnement)

10. Gora C, Dudas A, Court L, Annamneedi A, Lefort G, Nakahara TS, Azzopardi N, Acquistapace A, Laine AL, Trouillet AC, Drobecq L, Pecnard E, Piégu B, Crépieux P, Chamero P, Pellissier LP. Effect of the social environment on olfaction and social skills in wild-type and a mouse model of autism. Transl Psychiatry. 2024; 14(1): 464.

Autism spectrum disorders (ASD) are complex, polygenic and heterogenous neurodevelopmental conditions. The severity of autism-associated variants is influenced by environmental factors, particularly social experiences during the critical neurodevelopmental period. While early behavioral interventions have shown efficacy in some children with autism, pharmacological support for core features – impairments in social interaction and communication, and stereotyped or restricted behaviors – is currently lacking. In this study, we examined how the social environment influences both wild-type (WT) and Shank3 knockout (KO) mice, a model reflecting core autism-like traits. Our findings revealed that chronic social isolation enhanced social interaction and olfactory neuron responses in WT animals. Furthermore, it restored impairments in social novelty preference and olfactory function, as well as self-grooming in Shank3 KO mice. Conversely, an enriched social environment heightened social interest toward novel conspecifics in WT mice, but elicited the opposite effect in Shank3 KO mice. Notably, Shank3 KO mice displayed distinct social responses when exposed to WT or Shank3 KO mice. These results offer novel insights that could favor the implementation of behavioral interventions and inclusive classroom programs for children with ASD.

Lien vers le texte intégral (Open Access ou abonnement)

11. Griffin J. Eyes are windows to the brain: Capturing eye movements to better understand face processing in autism. Science. 2024; 386(6722): 632.

Capturing eye movements to better understand face processing in autism.

Lien vers le texte intégral (Open Access ou abonnement)

12. Horlin C, Almond K, Bowen A, Robertson A. Thriving… or Just Surviving? Autistic Journeys in Higher Education. Curr Psychiatry Rep. 2024.

PURPOSE OF REVIEW: Here we synthesise key recent (2021-2024) research that aims to understand the experience of autistic people, both staff and students, who navigate the Higher Education (HE) environment. RECENT FINDINGS: Autistic students and staff continue to experience a lack of flexible, consistent and personalised support within the HE context, and tensions remain between the benefits of disclosure and the discrimination that may result. Significant missed opportunities remain for greater social, emotional and practical supports for autistic members of the HE community. Distinct barriers to both access and ‘flourishing’ for autistic people within HE remain. Personal narratives continue to describe a range of both positive and negative experiences within HE, yet it remains clear that HE may be inherently hostile in its setup, and that it takes a great deal of effort to fight against this.

Lien vers le texte intégral (Open Access ou abonnement)

13. Ingrosso G, Nisticò V, Lombardi F, Morlacchi B, Cigognini AC, Oresti M, Faggioli R, Mottaran A, Redaelli CA, Tramontano M, Ranzini L, Anselmetti S, Bertelli S, Gambini O, Demartini B. Exploring the links between sensory sensitivity, autistic traits and autism-related eating behaviours in a sample of adult women with eating disorders. Sci Rep. 2024; 14(1): 27155.

This study examined the presence of autistic traits in a sample of adult women diagnosed with different Eating Disorders (ED), and explored the concurrent role of autistic traits and sensory sensitivity in influencing both their eating disorder symptomatology and their autism-related eating behaviours. Seventy-five women with different ED (Anorexia Nervosa, Bulimia Nervosa, Binge-Eating Disorder, Other Specified Feeding or Eating Disorder) completed the Eating Attitude Test (EAT-26), the Autism Quotient (AQ), the Ritvo Autism Asperger Diagnostic Scale-Revised (RAADS-R), the Sensory Perception Quotient – Short Form 35 item (SPQ-SF35) and the Swedish Eating Assessment for Autism Spectrum Disorders (SWEAA). Twelve percent of participants scored above the cut-off on both the AQ and the RAADS-R, while 68% scored above the cut-off on the RAADS-R only. A mediation analysis revealed that the association between sensory sensitivity (SPQ-SFR35) and scores on both the EAT-26 and the SWEAA was significantly mediated by the presence of autistic traits (RAADS-R). These findings, first, confirm the presence of autistic traits in individuals with ED; second, they show that a lower sensory threshold (i.e., a higher sensory sensitivity) is associated with a higher presence of autistic traits which were, in turn, positively associated with dysfunctional eating behaviours typical of ED and ASD. This study ultimately highlights the importance of further research on autistic traits across all diagnostic categories of ED.

Lien vers le texte intégral (Open Access ou abonnement)

14. Khan K, Katarya R. WS-BiTM: Integrating White Shark Optimization with Bi-LSTM for Enhanced Autism Spectrum Disorder Diagnosis. J Neurosci Methods. 2024: 110319.

Autism Spectrum Disorder (ASD) is a multifaceted neurodevelopmental condition marked by challenges in social communication, sensory processing, and behavioral regulation. The delayed diagnosis of ASD significantly impedes timely interventions, which can exacerbate symptom severity. With approximately 62 million individuals affected worldwide, the demand for efficient diagnostic tools is critical. This study introduces a novel framework that combines a White Shark Optimization (WSO)-based feature selection method with a Bidirectional Long Short-Term Memory (Bi-LSTM) classifier for enhanced autism classification. Utilizing the WSO technique, we identify key features from autism screening datasets, which markedly improves the model’s predictive capabilities. The optimized feature set is then processed by the Bi-LSTM classifier, enhancing its efficiency in handling sequential data. We comprehensively address methodological challenges, including overfitting, generalization, interpretability, and computational efficiency. Furthermore, we conduct a comparative analysis against baseline algorithms such as Neural Networks, Convolutional Neural Networks (CNN), and Long Short-Term Memory (LSTM) networks, while also employing Particle Swarm Optimization (PSO) for feature selection validation. We evaluate performance metrics, including accuracy, F1-score, specificity, precision, and sensitivity across three ASD datasets: Toddlers, Adults, and Children. Our results demonstrate that the WS-BiTM model significantly outperforms baseline methods, achieving accuracies of 97.6%, 96.2%, and 96.4% on the respective datasets. Additionally, we implemented leave-one-dataset cross-validation and confirmed the statistical significance of our findings through a paired t-test, supplemented by an ablation study to detail the contributions of individual model components. These findings highlight the potential of the WS-BiTM model as a robust tool for ASD classification.

Lien vers le texte intégral (Open Access ou abonnement)

15. Knedlíková L, Dědková L, Kolář S, Česká K, Vyhnalová M, Stroupková L, Pejčochová J, Pavel T, Lacko D, Horák O, Ošlejšková H, Danhofer P. The impact of the COVID-19 pandemic on stress and coping in parents of children with Autism Spectrum Disorder. PLoS One. 2024; 19(11): e0313426.

INTRODUCTION: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by impairments in communication, social interaction, and repetitive behavior. The declaration of the COVID-19 pandemic in March 2020 resulted in significant changes in daily life due to restrictive measures. This period posed particular challenges for families with children living with autism, given the limitations in medical care and social services. OBJECTIVE: This study aimed to understand how families with autistic children perceive stress during the pandemic and the coping strategies employed in unexpected situations. METHOD: A total of 44 families with children with ASD and 300 control families, including 44 control families in a matched subsample, were included in the study. To assess stress and parental coping with COVID-19-related stress, the Responses to Stress Questionnaire (Adult Self-Report RSQ-COVID-19) was utilized. RESULTS: Caregivers of autistic children experienced significantly higher stress levels (p = .027, d = 0.479) during the pandemic, with notable stressors such as limited access to medical care and challenges associated with remote work. Despite expectations, coping strategy differences were not statistically significant. CONCLUSION: Families and supporters of children with autism naturally encounter various experiences and challenges stemming from their additional needs. Our study’s results highlight an accentuation of stress during challenging situations. As these situations may recur in the future, there is a need to design and implement support plans for these families, appropriate intervention programs, and preparations for the utilization of telemedicine tools.

Lien vers le texte intégral (Open Access ou abonnement)

16. Lao U, Zhu H, Liang F, Bai W, Yin P, Huang X, Girdler S, Bölte S, Zou X. Feasibility and cross-cultural validation of an adapted social skills group training programme (KONTAKT(TM) CHILD) for Chinese autistic children: a waitlist RCT protocol. BMJ Open. 2024; 14(11): e081827.

INTRODUCTION: School-age autistic children commonly experience social communication and interaction challenges in their everyday lives. While international evidence suggests that social skills group training (SSGT) programmes can support autistic children, improving their psychosocial functioning, to date there is no standardised evidence-based SSGT tailored towards the needs of autistic children aged 8-12 years living in the Chinese Mainland. Therefore, the primary objective of this study will be to evaluate the feasibility and acceptability of a culturally adapted 16-session version of the social skills programme KONTAKT in Chinese autistic children. Additionally, preliminary efficacy and cost-effectiveness will be assessed to inform a future definitive trial. METHODS AND ANALYSIS: This study will employ a randomised, single-blinded, waitlist-controlled feasibility design with 36 Chinese autistic children aged 8-12 years with IQ over 70 referred to the Child Development and Behavior Center in Guangzhou, China. Participants will be randomly assigned to either the immediate training group or the delayed training group stratified by sex. Feasibility will be assessed using quantitative and qualitative data obtained from the KONTAKT CHILD participants, their parents and facilitators of the programme. Preliminary efficacy and cost-effectiveness are assessed via quantitative data obtained at five time points. The primary efficacy outcome is participants’ improvement in social skills as measured by the Contextual Assessment of Social Skills. Other outcomes include parents and teachers’ reports of participants’ autistic traits and adaptive functioning, participants’ self-report and projective tests for self-assertiveness and psychosocial functioning, and parent reports on parental reflective functioning and perceived school support. Common process factors and their effects on outcomes will also be explored. Cost-effectiveness will consider from both societal and healthcare perspectives. ETHICS AND DISSEMINATION: The current study protocol has been reviewed and ethics approval has been obtained from the Ethical Board Committee at the Third Affiliated Hospital of Sun Yat-sen University (II2023-119-01). The trial was pre-registered in Chinese Clinical Trials (ChiCTR2300072136) on 5 June 2023. The results of this trial will be actively disseminated through peer-reviewed publications and conference presentations. Any identifiable personal information will be anonymised to protect confidentiality. PROTOCOL VERSION: 2.0, 31 July 2024. TRIAL REGISTRATION NUMBER: ChiCTR2300072136.

Lien vers le texte intégral (Open Access ou abonnement)

17. Mukherjee R, Halder S. Challenges of Alternative Teaching-Learning Faced by Indian Parents of People with Autism Spectrum Disorder During Pandemic Emergency. J Autism Dev Disord. 2024.

The COVID-19 pandemic stretched between 2020 and 2021 and witnessed impactful changes in the education system inclusive of the special education sector. The special education sector selected online teaching-learning to continue the studies of their students with the help of the parents. The study aimed to find out the challenges faced by parents of people with autism enrolled in special schools who attended online classes along with their children and supported their teaching-learning. The mixed method study (sequential explanatory design) opted for quantitative phases followed by a qualitative phase for further in-depth exploration of the focus area. The quantitative phase consists of 100 participant parents and the qualitative phase consists of 15 participant parents recruited from phase one of the study through purposive sampling based on the inclusion and exclusion criteria. The data were collected via web forms and online interviews were recorded. The univariate analysis was used for the quantitative phase whereas thematic analysis was used for the qualitative phase. The parents had to manage office work, childcare, assisting in online classes, handling the psychological and behavioral issues of the child. Even challenges like learning new technology, managing additional expenses and personal stress were reported. The enormous efforts of the parents helped to overcome many of the challenges and achieve positive learning outcomes. Nevertheless, some recommendations like arrangement of parental workshops, increase in tech education and occasional hybrid mode of learning is suggested.

Lien vers le texte intégral (Open Access ou abonnement)

18. Ridsdale AM, Dickerson A, Chundru VK, Firth HV, Wright CF. Phenotypic spectrum of dual diagnoses in developmental disorders. Am J Hum Genet. 2024; 111(11): 2382-91.

As more patients receive genome-wide sequencing, the number of individuals diagnosed with multiple monogenic conditions is increasing. We sought to investigate the relative phenotypic contribution of dual diagnoses using both manual curation and computational approaches. First, we computed 1,003,236 semantic similarity scores for all possible pairs of 1,417 genes in the Developmental Disorder Gene2Phenotype (DDG2P) database using Human Phenotype Ontology terms. Next, for 62 probands with two molecular diagnoses in the Deciphering Developmental Disorders study, we computed semantic similarity scores between the probands’ phenotypes and DDG2P phenotypes associated with the two disorders and compared the results with manual attribution of proband phenotypes to none, one, or both of the genes. We found a spectrum of phenotypic similarity for dual diagnoses, both across all DDG2P genes and within dual diagnosed probands, from phenotypically distinct through blended to indistinguishable conditions. Pairwise semantic similarity scores between two DDG2P genes were a good predictor of the extent of phenotypic blending observed in probands. Dual diagnoses involving genes linked with synergistic phenotypes can result in more extreme presentations while those involving antagonistic phenotypes have spuriously high pairwise semantic similarity scores despite a potentially milder atypical presentation. We suggest that the phenotypic contribution of two molecular diagnoses may contain discrete, synergistic, or antagonistic elements. Conceptual recognition of this phenotypic spectrum is important for making a final clinico-molecular diagnosis and providing accurate genetic counseling.

Lien vers le texte intégral (Open Access ou abonnement)

19. Romero C, Goodman ZT, Kupis L, Dirks B, Parlade MV, Beaumont AL, Cardona SM, Nomi JS, Alessandri M, Perry LK, Uddin LQ. Multilingualism impacts children’s executive function and core autism symptoms. Autism Res. 2024.

Autism spectrum disorder (ASD) is associated with marked heterogeneity in executive function (EF) abilities. EF components including inhibition and shifting are related to ASD core symptoms such as perspective taking, social communication, and repetitive behavior. Recent research suggests that multilingualism may have a beneficial impact on EF abilities, especially in children with ASD. However, there remains a lack of comprehensive understanding regarding the relationships between multilingualism, EF, and core symptoms in children with ASD. Here, we examined these associations in 7-12-year-old children with and without ASD (N = 116; 53 ASD, Mean age = 9.94 years). Results suggest that multilingual children have stronger parent-reported inhibition, shifting, and perspective-taking skills than monolingual children. Furthermore, we found a significant interaction between diagnosis and multilingual status on inhibition, such that the effects of multilingualism were stronger for children with ASD than typically developing (TD) children. Finally, we found indirect effects of multilingualism on perspective taking, social communication, and repetitive behaviors mediated by EF skills. These results demonstrate the supportive influences multilingual experience might have on bolstering EF and reducing ASD-related symptoms.

Lien vers le texte intégral (Open Access ou abonnement)

20. Salami S, Alhalal E. Quality of life of primary caregivers of autistic children: Structural equation modeling. J Pediatr Nurs. 2024.

PURPOSE: Because autistic children may face difficulties living independently, considering their caregivers’ quality of life (QoL) is crucial. However, few studies have examined the pathways through which the severity of autism spectrum disorder (ASD) affects caregivers. Based on the stress process model, this study examined a hypothesized model of how ASD severity affects caregivers’ QoL, both directly and indirectly, through coping strategies, family functioning, and perceived social support. DESIGN AND METHODS: This cross-sectional study included 392 caregivers of autistic children in Saudi Arabia. Structured interviews were conducted between April and July 2023. The data were collected from caregivers who visited the developmental and behavioral disorders clinic, daycare centers, and schools. Descriptive and correlational analyses were conducted to describe the study variables and their association with caregivers’ QoL. Structural equation modeling was used to test the hypothesized model. RESULTS: The results showed that the hypothesized model fit the data. Maladaptive coping strategies (β = -0.039, P < 0.05), family functioning (β = -0.110, P < 0.05), and perceived social support (β = -0.182, P < 0.05) partially mediated the association between ASD severity and caregivers' QoL. CONCLUSION AND IMPLICATIONS: Our findings underscore the importance of tailoring interventions that focus on QoL for caregivers of autistic children, encouraging adaptive coping strategies, improving family functioning, and enhancing perceptions of social support.

Lien vers le texte intégral (Open Access ou abonnement)

21. Sarwahi V, Rahman E, Eigo K, Galina J, Hasan S, Ko A, Lo Y, Amaral T, Djukic A, Santiago M, Schneider J. Perioperative Considerations in Patients with Rett Syndrome as Compared to Those with Cerebral Palsy. Spine (Phila Pa 1976). 2024.

STUDY DESIGN: Retrospective cohort study. OBJECTIVE: This study aimed to compare perioperative outcomes of Rett syndrome and Cerebral palsy patients undergoing posterior spinal fusion for neuromuscular scoliosis. SUMMARY OF BACKGROUND DATA: Surgical correction in the treatment of scoliosis for patients with Rett syndrome (RS) has been shown to increase survival rate. Cerebral palsy (CP) patients, like RS patients, are often nonverbal, nonambulatory, with frequent surgical complications. METHODS: Retrospective review of 36 RS and 80 CP patients undergoing PSF from 2005-2023. Data and x-ray measurements were collected pre- and post-operatively. Sub-analysis was performed comparing non-ambulatory patients (GMFCS IV-V). Wilcoxon-Rank Sum, Fisher’s Exact, and Chi-square tests were utilized. RESULTS: The primary outcome measure, complication rates, was similar between the groups (P=0.09). Preoperative Cobb angle, levels fused, fixation points, and LOS were similar (P>0.05). EBL was significantly higher in CP patients as was rate of transfusion (P=0.001) and surgical time (P=0.001). Postoperative Cobb angle (P=0.002) was significantly higher for CP patients. There was no significant difference between CP and RS patients in both preoperative (P=0.383) and postoperative (P=0.051) coronal decompensation. Nonambulatory status was associated with increased odds of having a postoperative complication (OR=6.17, 95% C.I. 1.36 – 28.04). Sub-analysis of non-ambulatory RS and CP patients revealed significantly higher postoperative Cobb (P=0.008), EBL (P=0.019) and surgical time (P=0.017) in CP patients compared to RS patients. There were no significant differences in preoperative Cobb, levels fused, fixation points, hospital stay, or complication rate (P>0.05). CONCLUSION: RS patients are shown to have better outcomes to CP patients in terms of surgical, perioperative, and radiographic variables. Ambulatory status was identified as an independent risk factor for complications.

Lien vers le texte intégral (Open Access ou abonnement)

22. Schiltz HK, McVey AJ, Lord C. Anxiety Disorders in Autistic People: A Narrative Review. Psychiatr Clin North Am. 2024; 47(4): 753-73.

Anxiety is the most common co-occurring mental health condition across the lifespan for autistic people. The authors summarize the extant research on prevalence, correlates and predictors, measurement, and treatment of anxiety disorders in autistic people, which has rapidly expanded in the past decade. In addition to addressing gaps within each of these areas, the authors propose that there is a need for future work to center autistic perspectives, employ longitudinal designs, and expand the focus to include autistic adults and those with co-occurring intellectual disability.

Lien vers le texte intégral (Open Access ou abonnement)

23. Smith AM, Adler SR, Prelock P, Sibold J, Westervelt K, Wolever RQ. Integrative Health and Wellness Coaching: A Call to Action to Address a Research Gap for Individuals with Intellectual and Developmental Disabilities. J Integr Complement Med. 2024.

Lien vers le texte intégral (Open Access ou abonnement)

24. Verbesselt J, Breckpot J, Zink I, Swillen A. Language Profiles of School-Age Children With 16p11.2 Copy Number Variants in a Clinically Ascertained Cohort. J Speech Lang Hear Res. 2024; 67(11): 4487-503.

PURPOSE: Individuals with proximal 16p11.2 copy number variants (CNVs), either deletions (16p11.2DS) or duplications (16p11.2Dup), are predisposed to neurodevelopmental difficulties and disorders, such as language disorders, intellectual disability, and autism spectrum disorder. The purpose of the current study was to characterize language profiles of school-age children with proximal 16p11.2 CNVs, in relation to the normative sample and unaffected siblings of children with 16p11.2DS. METHOD: Standardized language tests were conducted in 33 school-age children with BP4-BP5 16p11.2 CNVs and eight unaffected siblings of children with 16p11.2DS to evaluate language production and comprehension skills across various language domains. A standardized intelligence test was also administered, and parents completed a standardized questionnaire to assess autistic traits. Language profiles were compared across 16p11.2 CNVs and intrafamilial pairs. The influence of nonverbal intelligence and autistic traits on language outcomes was investigated. RESULTS: No significant differences were found between children with 16p11.2DS and those with 16p11.2Dup, although both groups exhibited significantly poorer language skills compared to the normative sample and unaffected siblings of children with 16p11.2DS. Severe language deficits were identified in 70% of individuals with 16p11.2 CNVs across all language subdomains, with significantly better receptive vocabulary skills than overall receptive language abilities. In children with 16p11.2DS, expressive language deficits were more pronounced than receptive deficits. In contrast, only in children with 16p11.2Dup did nonverbal intelligence influence their language outcomes. CONCLUSIONS: The current study contributes to the deeper understanding of language profiles in 16p11.2 CNVs in a clinically ascertained cohort, indicating generalized deficits across multiple language domains, rather than a syndrome-specific pattern targeting specific subdomains. The findings underscore the importance of early diagnosis, targeted therapy, and monitoring of language skills in children with 16p11.2 CNVs. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.27228702.

Lien vers le texte intégral (Open Access ou abonnement)

25. Yum YN, Poon K, Lau WK, Ho FC, Sin KF, Chung KM, Lee HY, Liang DC. Music therapy improves engagement and initiation for autistic children with mild intellectual disabilities: A randomized controlled study. Autism Res. 2024.

This study aimed to evaluate the effectiveness of music therapy (MT) for children with co-occurring autism spectrum disorder (ASD) and intellectual disabilities (ID) and explore whether pre-intervention quantitative electroencephalogram (qEEG) responses can predict outcomes. A randomized controlled trial was conducted with 33 children receiving MT and 34 receiving an active control therapy. Participants received either MT or a non-musical social skills intervention for 45 min weekly over 12 weeks. Primary outcomes were measured using the Childhood Autism Rating Scale (CARS-2), along with the parent-rated Social Responsiveness Scale (SRS-2) and video coding of social behaviors. Both conditions significantly improved in CARS-2 scores at 2 weeks and 4 months post-intervention, with no differences between MT and control conditions. No changes were found in SRS-2 scores. While both conditions showed reduced disengagement after intervention, only the MT condition showed increased engagement and initiation. Strong qEEG responses to social scenes and music predicted increased initiation, indicating its potential to help tailor interventions. These results support incorporating MT into standard services and further research on qEEG predictors.

Lien vers le texte intégral (Open Access ou abonnement)

26. Zhao Y, Zhao L, Yang F, Tao C, Tang W, Cheng W, Zhang Y, Bu L. Assessing visual motor performance in autistic children based on Kinect and fNIRS: A case study. Neuroscience. 2024; 563: 10-9.

In recent years, the incidence rate of children with autism has shown a significant upward trend. Rehabilitation training is an important part of recovery or improvement in autism children. However, during autism rehabilitation training, the methods that can visually reflect and objectively evaluate its effects are seldom considered. Therefore, this study aimed to objectively evaluate the rehabilitation impact of visual-motor skills training in children with autism via quantitative measures. In this study, vision sensors and functional near-infrared spectroscopy were used to monitor and analyze visual motor training task of 20 autism children. These children were divided into high- and low-score groups according to the autism behavior checklist (ABC). Results showed significant differences between the high- and low-score groups in the brain regions of the left and right temporal lobe, right motor cortex, and left occipital lobe; the difference in functional connectivity was greatest when the left hand was moving at the green light (p < 0.05). The differences in speed, acceleration, and angle between the high- and low-score groups were mainly reflected in left-hand movement. Moreover, analysis of multimodal data showed that visual motor training had a positive effect on brain activation and functional connectivity, and increasing the frequency of left-hand training and using more green light were beneficial to the improvement of brain function. These findings can be used as basis to help optimize rehabilitation programs and improve rehabilitation effectiveness.

Lien vers le texte intégral (Open Access ou abonnement)