1. Arancibia T, Pardo R, Barrientos P. [Rett Syndrome: an updated view]. Andes pediatrica : revista Chilena de pediatria. 2023; 94(1): 94-103.

Rett syndrome (RS) is a rare neurodevelopmental disorder first described in 1966. It is characterized by the arrest and regression of intellectual, motor, and communicative developmental milestones, followed by the appearance of hand stereotypies after an apparently normal development period. Pathogenic variants in the MECP2 gene have been identified as a cause in most cases. The following review focuses on analyzing updated information regarding the medical and social aspects of RS globally, with a special emphasis of the situation in Chile. A multiple database search for updated information on RS was performed, selecting 68 articles published between 1995 and 2022, 56 on medical aspects, 11 on social aspects, and 1 on both. Additionally, information regarding certain social aspects was collected from government websites. Regarding medical aspects, the review focuses on RS’ clinical features, diagnosis and classification, genetics, pathophysiology, and management. In relation to social aspects, the review presents the psychic and emotional stress that RS can cause on affected families based on international studies and, lastly, the opportunities and tools available to Chilean patients. RS is a complex disorder affecting multiple organ systems. Its management requires a multidisciplinary approach, having an important psychological and socioeconomic impact on the family. In Chile, Laws N° 20,422 and 21,292, the National Disability Service, and the creation of the « Caminamos por Ellas y Ellos » (We Walk for Them) foundation are positive milestones met in the journey of supporting these families.

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2. Coelho-Medeiros ME, Gálvez AP, Núñez A, Le Roy C, Riquelme A, López-Espejo M. [Impact of COVID-19 pandemic confinement on the behavior of children and adolescents with autism spectrum disorder]. Andes pediatrica : revista Chilena de pediatria. 2022; 93(6): 832-40.

Coronavirus disease (COVID-19) and confinement have affected access to the health system and have impacted people’s mental health, particularly families of children with autism spectrum di sorder (ASD). OBJECTIVE: To investigate the perceptions of parents of children with ASD regarding benefits, positive changes, and difficulties in behavioral management at home during the first con finement due to COVID-19 in Chile. SUBJECTS AND METHODS: We performed an exploratory cross sectional qualitative study including 118 parents of individuals with ASD aged between 2 and 15 years. An online questionnaire, prepared by a multidisciplinary committee of national experts using Delphi methodology was applied, which contains four open-ended questions related to children’s behavior (difficulties, improvements, benefits, and professional support required) during the pan demic. RESULTS: Parents perceived that confinement increased emotional stress for adults and chil dren, which could exacerbate behavioral problems. The interviewees perceived improvements in child social-affective, individual autonomy, and communication skills. The family and resilience aspects, such as time-sharing that emerged during the pandemic to support children’s needs, were appreciated. Parents also reported the need for professional support in behavioral and emotional management during confinement. CONCLUSION: Caregivers value the integration of the family into therapies during confinement. It is necessary to complement these results with additional studies exploring different life contexts of families with children with ASD in Chile and the impacts of long term confinement.

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3. Dominguez-Alonso S, Carracedo A, Rodriguez-Fontenla C. eQTL colocalization analysis highlights novel susceptibility genes in Autism Spectrum Disorders (ASD). Translational psychiatry. 2023; 13(1): 336.

Autism Spectrum Disorders (ASD) are a group of neurodevelopmental disorders (NDDs) characterized by difficulties in social interaction and communication, repetitive behavior, and restricted interests. ASD has proven to have a strong genetic component. However, defining causal genes is still one of the main challenges in GWAS, since the vast majority (>90%) of detected signals lie within the non-coding genome. Expression quantitative trait locus (eQTL) colocalization analysis determines whether a specific variant is responsible for both a local eQTL and GWAS association and has helped leverage data and rendering gene discovery for a wide array of diseases. Here we further mine the largest ASD GWAS performed to date (18,381 cases and 27,969 controls) altogether with GWAS summary statistics from the main PGC studies (Schizophrenia, MD (Major Depression) and ADHD (Attention Deficit/Hyperactivity Disorder)), by using eQTpLot, a newly developed tool that illustrates the colocalization of GWAS and eQTL signals in a locus, and the enrichment of and correlation between the candidate gene eQTLs and trait-significant variants. This analysis points up 8 genes with a significant eQTL colocalization signal in ASD (CRHR1, KANSL1, MANBA, MAPT, MMP12, NKX2-2, PTPRE and WNT3) and one gene (SRPK2) with a marginally significant colocalization signal (r = 0.69, p < 1 × 10(-6)), and specifically highlights the potentially causal role of MAPT (r = 0.76, p < 1 × 10(-6)), NKX2-2 (r = 0.71, p-value = 2.26(-02)) and PTPRE (r = 0.97, p-value = 2.63(-04)) when restricting the analysis to brain tissue.

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4. Fusaroli R, Weed E, Rocca R, Fein D, Naigles L. Repeat After Me? Both Children With and Without Autism Commonly Align Their Language With That of Their Caregivers. Cognitive science. 2023; 47(11): e13369.

Linguistic repetitions in children are conceptualized as negative in children with autism – echolalia, without communicative purpose – and positive in typically developing (TD) children – linguistic alignment involved in shared engagement, common ground and language acquisition. To investigate this apparent contradiction we analyzed spontaneous speech in 67 parent-child dyads from a longitudinal corpus (30 minutes of play activities at 6 visits over 2 years). We included 32 children with autism and 35 linguistically matched TD children (mean age at recruitment 32.76 and 20.27 months). We found a small number of exact repetitions in both groups (roughly 1% of utterances across visits), which increased over time in children with autism and decreased in the TD group. Partial repetitions were much more frequent: children reused caregivers’ words at high rates regardless of diagnostic group (24% of utterances at first visit), and this increased in frequency (but not level) over time, faster for TD children (at final visit: 33% for autism, 40% for TD). The same happened for partial repetition of syntax and semantic alignment. However, chance alignment (as measured by surrogate pairs) also increased and findings for developmental changes were reliable only for syntactic and semantic alignment. Children with richer linguistic abilities also displayed a higher tendency to partially re-use their caregivers’ language (alignment rates and semantic alignment). This highlights that all children commonly re-used the words, syntax, and topics of their caregivers, albeit with some quantitative differences, and that most repetition was at least potentially productive, with repeated language being re-contextualized and integrated with non-repeated language. The salience of echolalia in ASD might be partially explained by slight differences in frequency, amplified by lower semantic alignment, persistence over time, and expectations of echolalia. More in-depth qualitative and quantitative analyses of how repetitions are used and received in context are needed.

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5. Huntley MK, Nguyen A, Albrecht MA, Marinovic W. Investigating the Role of Leading Sensory Modality and Autistic Traits in the Visual-Tactile Temporal Binding Window. Multisensory research. 2023; 36(7): 683-702.

Our ability to integrate multisensory information depends on processes occurring during the temporal binding window. There is limited research investigating the temporal binding window for visual-tactile integration and its relationship with autistic traits, sensory sensitivity, and unusual sensory experiences. We measured the temporal binding window for visual-tactile integration in 27 neurotypical participants who completed a simultaneity judgement task and three questionnaires: the Autism Quotient, the Glasgow Sensory Questionnaire, and the Multi-Modality Unusual Sensory Experiences Questionnaire. The average width of the visual-leading visual-tactile (VT) temporal binding window was 123 ms, significantly narrower than the tactile-leading visual-tactile (TV) window (193 ms). When comparing crossmodal (visual-tactile) stimuli with unimodal (visual-visual or tactile-tactile), the temporal binding window was significantly larger for crossmodal stimuli (VT: 123 ms; TV: 193 ms) than for unimodal pairs of stimuli (visual: 38 ms; tactile 42 ms). We did not find evidence to support a relationship between the size of the temporal binding window and autistic traits, sensory sensitivities, or unusual sensory perceptual experiences in this neurotypical population. Our results indicate that the leading sense presented in a multisensory pair influences the width of the temporal binding window. When tactile stimuli precede visual stimuli it may be difficult to determine the temporal boundaries of the stimuli, which leads to a delay in shifting attention from tactile to visual stimuli. This ambiguity in determining temporal boundaries of stimuli likely influences our ability to decide on whether stimuli are simultaneous or nonsimultaneous, which in turn leads to wider temporal binding windows.

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6. K LW, S ES, Roemer Britsch E, J MI. Infant Communication Across the Transition to Walking: Developmental Cascades Among Infant Siblings of Children with Autism. Journal of autism and developmental disorders. 2023.

New motor skills can shape how infants communicate with their caregivers. For example, learning to walk allows infants to move faster and farther than they previously could, in turn allowing them to approach their caregivers more frequently to gesture or vocalize. Does the link between walking and communication differ for infants later diagnosed with autism spectrum disorder (ASD), whose communicative and motor development differs from their neurotypically developing peers? We prospectively followed two groups of infants longitudinally during the transition from crawling to walking: (1) N = 25 infants with no family history of ASD; and (2) N = 91 infants with an older sibling with ASD. Fifteen infants were later diagnosed with ASD, and 26 infants showed a language delay (but did not receive an ASD diagnosis). After learning to walk, infants without ASD or language delay showed considerable changes in their communication: They gestured more frequently, and increasingly coordinated their gestures and vocalizations with locomotion (e.g., by approaching a caregiver and showing a toy). Infants with language delay showed similar but attenuated growth in their communication. However, infants later diagnosed with ASD did not display enhanced communication after they began to walk.

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7. Khan MMM, Munir MM, Pawlik TM. ASO Author Reflections: Disparities in Breast Cancer Screening Rates Among Adults With and Without Intellectual and Developmental Disabilities. Annals of surgical oncology. 2023.

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8. Miles KG, Farkas DK, Laugesen K, Sørensen HT, Kasparian NA, Madsen N. Mental Health Conditions Among Children and Adolescents With Congenital Heart Disease: A Danish Population-Based Cohort Study. Circulation. 2023; 148(18): 1381-94.

BACKGROUND: Despite the known mental health burden among children with congenital heart disease (CHD), the literature is constrained by a lack of comparison cohorts and population-based follow-up data. We examined the incidence of mental health conditions among children with CHD, relative to 3 comparison cohorts. METHODS: This population-based cohort study identified all children with CHD (<18 years of age; n=16 473) in Denmark from 1996 to 2017, through linkage of individual-level data across national registries. This allowed for complete follow-up of the population. Comparison cohorts included children from the general population (n=162 204), siblings of children with CHD (n=20 079), and children with non-CHD major congenital anomalies (n=47 799). Mental health conditions were identified using inpatient and outpatient hospital discharge codes, prescription data, and data on use of community-based psychology, psychiatry, and psychotherapy services. We computed cumulative incidence by 18 years of age, incidence rates, and adjusted hazard ratios (aHRs) using Cox regression. aHRs accounted for sex, year of CHD diagnosis, parental mental health, and socioeconomic status. All estimates were stratified by age, sex, and CHD complexity. RESULTS: The cumulative incidence of mental health conditions by 18 years of age in the CHD cohort was 35.1% (95% CI, 34.0%-36.1%), corresponding to aHRs of 1.64 (95% CI, 1.58-1.71), 1.41 (95% CI, 1.30-1.52), and 1.02 (95% CI, 0.98-1.07) compared with the general population, sibling, and major congenital anomaly cohorts, respectively. Mental health incidence rates showed prominent peaks in early childhood and adolescence. Males and children with severe or single-ventricle CHD demonstrated higher incidence rates of mental health conditions relative to females and children with mild or moderate CHD, respectively. Compared with the general population and sibling cohorts, incidence rates and aHRs in the CHD cohort were highest for severe stress reactions, attention deficit/hyperactivity disorder, intellectual disability, and autism spectrum disorder. Compared with children in the major congenital anomaly cohort, the aHRs were close to 1. CONCLUSIONS: More than one-third of children with CHD were diagnosed or treated for a mental health condition by 18 years of age. Mental health conditions began early in life and were most prominent among males and children with severe or single-ventricle heart disease.

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9. Parikh C, Ozonoff S. Brief Report: Single and Repeat Screening with the Modified Checklist for Autism in Toddlers-Revised in Young Children at Higher Likelihood for Autism Spectrum Disorder. Journal of autism and developmental disorders. 2023.

PURPOSE: To compare the utility of single versus repeated autism screening in a sample at higher likelihood (HL) for ASD, following both screen positives and all screen negatives to diagnostic outcome. METHODS: Using a prospective infant sibling design, the current study followed 135 toddlers at HL for ASD and conducted diagnostic evaluations on the full sample at 18, 24, and 36 months. The psychometric properties of the M-CHAT-R using both concurrent and predictive diagnostic evaluations were compared in a group screened once (at 18 months only, n = 60) or twice (at both 18 and 24 months, n = 75). The study also examined consistency in reporting of ASD symptoms across the M-CHAT-R and a developmental concerns interview, comparing the HL group to a group with lower likelihood (LL) for ASD (n = 88). RESULTS: Sensitivity and specificity of the M-CHAT-R were high (75 - 95%), consistent with previous research. Positive predictive value (43 - 76%) was higher in this HL group than in previous community samples. Repeat screening improved sensitivity with little cost to specificity. At both 18 and 24 months, HL parents were more consistent in their reporting on the M-CHAT-R and a concerns interview than LL parents. CONCLUSION: The M-CHAT-R has strong psychometric properties when used with groups at HL for ASD, suggesting that scores over the screening cutoff of 3 should lead to prompt diagnostic evaluation referrals in children with older siblings on the spectrum.

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10. Zhou G, Zhang XB, Qu XD, Luo MF, Peng QL, Ma LY, Zhao Z. [Differential diagnosis of autism spectrum disorder and global developmental delay based on machine learning and Children Neuropsychological and Behavioral Scale]. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics. 2023; 25(10): 1028-33.

OBJECTIVES: To investigate the efficacy and required indicators of Children Neuropsychological and Behavioral Scale-Revision 2016 (CNBS-R2016) in the differential diagnosis of autism spectrum disorder (ASD) and global developmental delay (GDD). METHODS: A total of 277 children with ASD and 415 children with GDD, aged 18-48 months, were enrolled as subjects. CNBS-R2016 was used to assess the developmental levels of six domains, i.e., gross motor, fine motor, adaptive ability, language, social behavior, and warning behavior, and a total of 13 indicators on intelligence age and developmental quotient (DQ) were obtained as the input features. Five commonly used machine learning classifiers were used for training to calculate the classification accuracy, sensitivity, and specificity of each classifier. RESULTS: DQ of warning behavior was selected as the first feature in all five classifiers, and the use of this indicator alone had a classification accuracy of 78.90%. When the DQ of warning behavior was used in combination with the intelligence age of warning behavior, gross motor, and language, it had the highest classification accuracy of 86.71%. CONCLUSIONS: Machine learning combined with CNBS-R2016 can effectively distinguish children with ASD from those with GDD. The DQ of warning behavior plays an important role in machine learning, and its combination with other features can improve classification accuracy, providing a basis for the efficient and accurate differential diagnosis of ASD and GDD in clinical practice.

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11. Zougheib N, Franden M, Yaqoob U, Soliman I, Raja AE. Ultrasound as a Diagnostic Modality for Wrist Pain in a Nonverbal Patient with Autism Spectrum Disorder: A Case Report. American journal of physical medicine & rehabilitation. 2023.

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