1. DuBay M, Watson LR, Méndez LI, Rojevic C. Psychometric Comparison of the English and Spanish Western-Hemisphere Versions of the Modified Checklist for Autism in Toddlers-Revised. Journal of developmental and behavioral pediatrics : JDBP. 2021; 42(9): 717-25.

OBJECTIVES: Parent-report screening tools for autism spectrum disorder (ASD) are widely used to promote early identification of children with or at risk for ASD. Most screening tools have been developed in English in the United States or United Kingdom; thus, translated versions are needed for use with culturally and linguistically diverse populations. Traditional translation methods include a forward translation, back translation, and review. However, when used in new cultural and linguistic contexts, this « forward-back » approach may have limitations, including differing psychometric properties compared with original instruments. This study presents a psychometric analysis of the forward-back translation methodology of an ASD screening tool. METHODS: A retrospective chart review design was used to examine Modified Checklist for Autism in Toddlers-Revised (M-CHAT-R; Robins et al.) records from 2974 toddlers. Data were compared between caregivers who completed the original English M-CHAT-R and caregivers who completed its forward-back « Spanish-Western Hemisphere » translation to compare select psychometric properties of the 2 instruments. RESULTS: Significant differences were observed between the 2 versions, including a higher overall risk score, higher initial screen-positive rate, and increased likelihood of leaving items blank among Spanish-speaking respondents. CONCLUSION: Traditional translation methods seemed to affect select psychometric properties between translations of the M-CHAT-R. A more rigorous cultural adaptation approach may be necessary to maintain equivalence with the original instrument. Until new rigorous translations are available, it is recommended that language-specific screening tools continue to be used, along with recommended follow-up interviews, to avoid exacerbating existing health disparities.

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2. Kreider CM, Mburu S, Dizdarevic S, Garvan G, Elder JH. Exploration of Relationships among Clinical Gastrointestinal Indicators and Social and Sensory Symptom Severity in Children with Autism Spectrum Disorder. Pediatric reports. 2021; 13(4): 594-604.

Autism Spectrum Disorders (ASD) are associated with co-morbidities such as gastrointestinal (GI) symptomatology, which in the absence of known causes are potential indicators of gut microbiota that may influence behavior. This study’s purpose was to explore relationships among clinical GI indicators-diet, abdominal pain, and stool status-and ASD symptom severity, specifically social and sensory symptoms. Participants were 33 children with ASD, 3 to 16 years. The Social Responsiveness Scale (SRS-2) and the Child Sensory Profile Scale (CSP-2) were used to appraise social and sensory symptomatology. Significant difference was found in overall SRS-2, t(31) = -3.220, p = 0.003 when compared by abdominal pain status using independent samples t-tests. Significant difference was observed for overall CSP-2, t(31) = -2.441, p = 0.021, when grouped by stool. The three clinical GI variables predicted overall SRS-2 score using multiple linear regression, F(3, 32) = 3.257, p = 0.036; coefficient for abdominal pain significantly contributed to the outcome. Findings contribute to the growing literature signaling the need to understand occurrence of GI symptomatology more deeply, and in consideration of diet status and its implications in the children’s everyday lives, behaviors, and symptom severity.

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3. Lee CE, Burke MM, DaWalt LS, Li C, Taylor JL. The role of parental advocacy in addressing service disparities for transition-aged youth on the autism spectrum. Autism : the international journal of research and practice. 2022; 26(4): 1001-6.

It can be difficult for youth on the autism spectrum to get the services they need after they leave high school. Because of this, many studies have examined the different factors that are related to service access. These studies have shown that youth on the autism spectrum who belong to an underrepresented racial or ethnic group or whose families have lower incomes are less likely to receive the services that they need. However, it is difficult or impossible to change things like race/ethnicity or family income. It is important to also identify factors that might improve service access that we can change. One potential factor that fits into this category is parental advocacy activities. Using data collected from 185 parents of youth on the autism spectrum, we found that more parental advocacy activities were related to youth receiving more services, even after accounting for variables related to the functioning of the youth (e.g. whether they have an intellectual disability, their autism symptom severity) and demographic information about the family (e.g. state in which they live, parental race/ethnicity, and family income). Our findings suggest that building parental advocacy skills may be one important way to increase the number of services that youth on the autism spectrum receive as they transition to adulthood.

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4. Palmer EE. Commentary on: Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON. European journal of human genetics : EJHG. 2022; 30(3): 258-9.

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5. Reiss S, Zalles L, Gbekie C, Lozano R. Identity and Reproductive Aspects in Females with Fragile X Syndrome. Women’s health reports (New Rochelle, NY). 2021; 2(1): 500-6.

Purpose: Fragile X Syndrome (FXS) is caused by a full mutation in the FMR1 gene, defined by >200 CGG repeats. It is the leading cause of inherited intellectual disability, but presents with a wide range of clinical variability in males and particularly amongst females. This article aims to review the perspectives of women with the full mutation in relation to Fragile X Syndrome identification, romantic desires, and reproductive decision making. Methods: We generated an online survey of 33 questions to be administered to 31 women that had visited our Fragile X Syndrome Clinic and members of the National Fragile X Foundation. We extrapolated common themes from the obtained data. Results: The results showed that most women often struggled with identifying as a female with FXS. Furthermore, many women are interested in childbearing, however most are in need of genetic counseling. Conclusions: Further research to advance the understanding of the specific needs of women with FXS is necessary.

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6. Sharma V, Saini AG, Malhi P, Singhi P. Epilepsy and EEG Abnormalities in Children with Autism Spectrum Disorders. Indian journal of pediatrics. 2021.

OBJECTIVE: To evaluate the prevalence of epilepsy and electroencephalographic abnormalities in children with autism spectrum disorders (ASD) and determine their risk factors. METHODS: This cross-sectional study was conducted over one year in children with ASD aged between 3 and 14 y. Classification of epilepsy and routine electroencephalography (EEG) recordings were done for all the patients. Developmental and cognitive assessments were done using Developmental Profile 3. Children were divided into three groups: ASD with epilepsy, ASD with isolated electroencephalographic abnormalities, and ASD with neither epilepsy nor electroencephalographic abnormalities. RESULTS: One hundred children with ASD were enrolled. Epilepsy was reported in 23% and subclinical electroencephalographic abnormalities were documented in 8%. The most common seizure types were generalized-onset tonic-clonic (48%), focal-onset with impaired awareness (17%), and focal to bilateral tonic-clonic seizures (17%). In children with subclinical epileptiform discharges, focal abnormalities were most common (75%) and were maximally seen over the temporal region (50%). Subnormal intellect (88.6%) and abnormal global developmental score (82%) were noted in the majority of children. Female gender, abnormal neurological examination, and adverse perinatal events were significantly associated with epilepsy. Of these, female gender and adverse perinatal events were independent predictors of epilepsy. Isolated EEG abnormalities were significantly associated with abnormal neurological examination in comparison with autistic children without epilepsy/EEG abnormalities. CONCLUSION: Epilepsy is seen in up to one-fourth children with ASD. Female gender and adverse perinatal events are independent risk factors for epilepsy. Subclinical or isolated EEG abnormalities are associated with abnormal neurological examination.

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7. Solgi M, Fernandez J, Zuckerman KE, Shapiro D, Augustyn M. Challenging Case: The Role of Genetic Testing in Complex Autism. Journal of developmental and behavioral pediatrics : JDBP. 2022; 43(1): 60-2.

S is a 12-year-old boy with autism spectrum disorder (ASD), seizure disorder, cerebral palsy, and intellectual disability who presented to the primary care clinician for a preventative care visit.S was born at full term after an unremarkable pregnancy. His developmental delays were first noted at around 8 months, when he could not sit independently and had intermittently poor eye contact. He was referred to Part C Early Intervention and subsequently evaluated by a neurodevelopmental pediatrician, where he was noted to be hypotonic, with delayed motor and cognitive skills. Initial genetics evaluation included karyotype, fragile X testing, Angelman and Prader-Willi DNA fluorescence in situ hybridization probes, POLG sequencing, MECP2 testing, a microarray, creatinine kinase, very long-chain fatty acids, lymphocyte arylsulfatase, urine organic acids, and plasma amino acids, all of which were normal.As time progressed, S continued to have motor and communication delays and developed choreic movements. He also developed episodes concerning for seizure, including periods of staring while awake and episodes of extremity shaking lasting a few seconds with associated eye deviation, which eventually progressed to generalized seizures. He also developed periods of lethargy. Outpatient workup included several EEGs, which were notable for foci in the right frontal and left temporal regions. He has had several brain MRIs showing generalized volume loss and had critical laboratory tests during a period of lethargy, which were unconcerning. He was treated with multiple antiseizure medications. He was diagnosed with ASD at age 5 years because of delayed language, poor social communication, and repetitive behaviors.Over time, S continued to experience global developmental delays and autistic-like behaviors and remained minimally verbal. However, clinicians noted a number of developmental strengths, including a generally positive mood, a willingness to participate in therapy, improved receptive language skills, attachment to his mother, and a love of nature and the outdoors. He participated in a number of therapy modalities including speech/language therapy, occupational therapy, physical therapy, applied behavioral analysis, aqua therapy, partner-assisted scanning, and therapeutic horseback riding.In 2019, whole-exome sequencing was newly covered by the state Medicaid program, and testing was obtained in 2020. Whole-exome sequencing revealed a de novo STXBP1 pathogenic variant c.874C>T (p.Arg292Cys), which is associated with developmental and epileptic encephalopathy. His presentation is consistent with STXBP1 encephalopathy including refractory epilepsy, ASD, intellectual disability, and movement disorders.What are important considerations in genetic testing for children with autism? How does a genetic testing result alter management for clinicians and families?

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8. Tang Q, Cao L. [Intestinal flora and neurological disorders]. Sheng wu gong cheng xue bao = Chinese journal of biotechnology. 2021; 37(11): 3757-80.

The human intestinal flora is a highly diverse ecosystem composed of trillions of bacteria. The imbalance of the flora is related to a variety of diseases. The intestinal flora interacts with the nervous system bidirectionally in many ways through the gut-brain axis. It causes neuroimmune inflammatory response, dysfunction of gut mucosa and blood-brain barrier, direct stimulation of the vagus nerve, spinal nerve of the enteric nervous system, and the neuroendocrine hypothalamus-pituitary-adrenal axis, causing neurological disorders. The metabolites of the intestinal microbial community also play a role. This article summarizes the characteristics of the altered intestinal flora and intervention measures in autism spectrum disorder, multiple sclerosis, Parkinson’s disease, epilepsy, Guillain-Barré syndrome, Alzheimer’s disease, neuromyelitis optica, hepatic encephalopathy, amyotrophic lateral sclerosis, schizophrenia, depression, chronic fatigue syndrome, Huntington’s disease and stroke. The current research on intestinal flora is still in its infancy, and very few studies were carried out on causality and the underlying mechanisms, which prevents the development of precise flora-based clinical intervention measures. It is expected the research on intestinal flora would lead to novel approaches for treatment of some neurological disorders.

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9. Underwood JF, DelPozo-Banos M, Frizzati A, John A, Hall J. Evidence of increasing recorded diagnosis of autism spectrum disorders in Wales, UK: An e-cohort study. Autism : the international journal of research and practice. 2021: 13623613211059674.

Autism spectrum disorders (autism) are thought to be relatively common, with analyses estimating 1% in the population could meet diagnostic criteria. New services for adult diagnosis have been set up in Wales, UK; however, no studies have examined for the proportion of adults with autism in Wales. In this study, we take anonymised healthcare record data from more than 3.6 million people to produce a national estimate of recorded autism diagnoses. We found the overall prevalence rate of autism in healthcare records was 0.51%. The number of new-recorded cases of autism increased from 0.188 per 1000 person-years in 2001 to 0.644 per 1000 person-years in 2016. The estimate of 0.51% prevalence in the population is lower than suggested by population survey and cohort studies, but comparable to other administrative records. From 2001 to 2016, the number of autism services for adults has increased, and autism is more widely known in society, while concurrently in healthcare records, there was a >150% increase autism diagnoses in the years 2008-2016. An increasing number of diagnoses were among women and those aged over 35 years. This study suggests that while the number of people being diagnosed with autism is increasing, many are still unrecognised by healthcare services.

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10. Willis C, Powell-Rudy T, Colley K, Prasad J. Examining the Use of Game-Based Assessments for Hiring Autistic Job Seekers. Journal of Intelligence. 2021; 9(4).

Although people with autism are protected under the Americans with Disabilities Act of 1990, there is little theoretical or practical effort to determine whether traditional pre-employment assessments unfairly impact autistic job seekers. Due to the lack of emphasis on social communication, game-based assessments (GBAs) may offer a way of assessing candidate ability without disadvantaging autistic candidates. A total of 263 autistic job seekers took one of two game-based assessment packages designed to measure cognitive ability. After comparing their results to 323 college-graduate job seekers in the general population, we found that performance on the GBAs was generally similar in both populations, although some small differences were detected. Implications for hiring decisions are discussed.

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11. Zhang RT, Yang ZY, Huang J, Wang YM, Zhou HY, Wang Y, Lui SSY, Cheung EFC, Chan RCK. Neural mechanisms of prospection in individuals with schizotypal traits, autistic traits, or depressive symptoms. Journal of abnormal psychology. 2021; 130(8): 807-14.

Prospection refers to the ability to mentally construct future events, which is closely related to motivation and anhedonia. The neural underpinning of impaired prospection in psychiatric populations remains unclear. We recruited 34 individuals with autistic traits (AT), 27 individuals with schizotypal traits (ST), 31 individuals with depressive symptoms (DS), and 35 controls. Participants completed a prospection task while undergoing functional Magnetic Resonance Imaging (MRI). We found that regions of the « default mode network » including the medial frontal gyrus, the posterior cingulate cortex, the precuneus and the parahippocampus were activated; and regions of the « task-positive network » including the inferior parietal lobe, the inferior frontal gyrus and the precentral gyrus were deactivated during prospection in controls. Compared with controls, AT, ST, and DS showed comparable behavioral performance on prospection. However, reduced activation in anterior cingulate cortex and frontal gyrus was found in AT individuals relative to controls during prospection. ST individuals showed hyperactivation in the caudate relative to controls when processing positive emotion, while DS individuals and controls showed similar neural responses during prospection. (PsycInfo Database Record (c) 2021 APA, all rights reserved).

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12. Zheng L, Foley KR, Grove R, Elley K, Brown SA, Leong DJ, Li X, Pellicano E, Trollor JN, Hwang YIJ. The use of everyday and assistive technology in the lives of older autistic adults. Autism : the international journal of research and practice. 2021: 13623613211058519.

Technology has the potential to help people with various support needs live more autonomous lives. This includes autistic individuals. In this article, we look at how older autistic adults use technology in their daily lives. Past research examining technology use and autism has mainly focused on helping children to learn new skills. To date, very little research has been conducted looking at how to create and design technology for use by older autistic adults. This is concerning because older autistic adults will likely have supports needs that match or exceed those of similarly aged non-autistic individuals. In this article, we spoke to autistic adults over 50 years about their daily experiences and how they use technology. We identified some important ways that older autistic adults use technology in their daily lives, as well as a number of support needs and barriers to technology use. Based on the findings, we were able to provide some guidelines and recommendations for technology developers and service providers to assist with designing, creating and using technology with older autistic adults.

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