1. Albaradie R, Habibullah H, Mir A, Alshammari AK, Alajmi MS, Alsubaie FA, Alsudairi RR, Bashir S. The prevalence of seizures in children with developmental delay. Neurosciences (Riyadh, Saudi Arabia). 2021; 26(2): 186-91.

OBJECTIVES: To study the prevalence of seizures in children with GDD and identify the characteristics of such patients; to examine the association of GDD with epilepsy and to determine the effect of certain risk factors on this association. METHODS: A retrospective cross-sectional study conducted at the pediatric neurology and developmental assessment clinic at King Fahad specialist hospital (KFSH), Saudi Arabia. All data were collected by reviewing the electronic medical records of 200 pediatric patients who presented with global developmental delay from February 2016 to April 2018. RESULTS: The sample includes 200 children (113 males, 87 females) aged zero to 12 years. The largest group of participants came from the Dammam region, representing 27.5% of the sample. The prevalence of epilepsy in GDD patients was 56%; the epilepsy and non-epilepsy groups differed significantly in age. The most common type of seizure was generalized onset motor, which were observed in 37.5% of the sample. Problems during labor occurred in 15% of the sample; consanguineous marriage occurred in 61.6% of the participants. Neither of these factors differed significantly in the epilepsy and non-epilepsy groups. Advanced paternal age did differ significantly in the two groups (p=0.003). CONCLUSION: The prevalence of epilepsy is high in children with GDD, and of the factors studied here, the most significant variables affecting this correlation are the type of seizure and advanced paternal age.

Lien vers le texte intégral (Open Access ou abonnement)

2. Bugarski-Kirola D, Marcus RN. Comorbidities and behavioral issues. European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology. 2021; 48: 45-6.

Lien vers le texte intégral (Open Access ou abonnement)

3. Chen J, Wei Z, Liang C, Liu B, Guo J, Kong X, Huang M, Peng Z, Wan G. Dysfunction of the Auditory Brainstem as a Neurophysiology Subtype of Autism Spectrum Disorder. Frontiers in neuroscience. 2021; 15: 637079.

Autism spectrum disorder (ASD) is very heterogeneous, particularly in language. Studies have suggested that language impairment is linked to auditory-brainstem dysfunction in ASD. However, not all ASD children have these deficits, which suggests potential subtypes of ASD. We classified ASD children into two subtypes according to their speech-evoked auditory brainstem response (speech-ABR) and explored the neural substrates for possible subtypes. Twenty-nine children with ASD and 25 typically developing (TD) peers were enrolled to undergo speech-ABR testing and structural magnetic resonance imaging (sMRI). There were significant differences between the ASD group and TD group in surface area, cortical volume and cortical thickness. According to speech-ABR results, ASD participants were divided into the ASD-typical (ASD-T) group and ASD-atypical (ASD-A) group. Compared with the ASD-T group, the ASD-A group had a lower score in language of the Gesell Developmental Diagnosis Scale (GDDS), increased left rostral middle frontal gyrus (lRMFG) area and decreased local gyrification index of the right superior temporal gyrus. GDDS-language and surface area of lRMFG were correlated to the wave-A amplitude in ASD. Surface area of lRMFG had an indirect effect on language performance via alteration of the wave-V amplitude. Thus, cortical deficits may impair language ability in children with ASD by causing subcortical dysfunction at preschool age. These evidences support dysfunction of the auditory brainstem as a potential subtype of ASD. Besides, this subtype-based method may be useful for various clinical applications.

Lien vers le texte intégral (Open Access ou abonnement)

4. Conner CM, Golt J, Shaffer R, Righi G, Siegel M, Mazefsky CA. Emotion Dysregulation is Substantially Elevated in Autism Compared to the General Population: Impact on Psychiatric Services. Autism research : official journal of the International Society for Autism Research. 2021; 14(1): 169-81.

Emerging evidence suggests that emotion regulation (ER) impairment in those with ASD is associated with poor mental health. This study used the Emotion Dysregulation Inventory, a new norm-referenced ER measure with clinical cut-offs, developed and validated in ASD and non-ASD samples, to establish rates of ER impairment and understand its association with psychiatric service use in ASD. Parents of 6-17 year olds in three well-characterized samples (nationally representative US n = 1,000; community ASD n = 1,169; inpatient ASD n = 567) completed a battery of questionnaires about their child. The prevalence of ER impairment was significantly higher in the ASD groups compared to the nationally representative sample and highest in the psychiatric Inpatient ASD group. The community ASD and inpatient ASD samples were four and seven times more likely, respectively, to exceed clinical cutoffs for emotional reactivity than the general US sample. Similarly, history of psychiatric hospitalization, recent emergency services use (police contact, emergency room visits, or in-home crisis evaluations for emotional or behavioral concerns in the past 2 months), and psychotropic medication prescriptions were significantly higher in the ASD groups. ER impairment was significantly associated with all forms of psychiatric service use, after controlling for demographics (age, sex, race), co-occurring intellectual disability, and ADHD symptoms. This is the first large-scale study to document substantially higher rates of ER impairment in youth with ASD compared to the general population. The importance of ER impairment is underscored by its association with higher utilization of inpatient, emergency, and medication services in ASD, after accounting for demographics and ADHD-related symptoms.

Lien vers le texte intégral (Open Access ou abonnement)

5. Crowe B, Machalicek W, Wei Q, Drew C, Ganz J. Augmentative and Alternative Communication for Children with Intellectual and Developmental Disability: A Mega-Review of the Literature. Journal of developmental and physical disabilities. 2022; 34(1): 1-42.

Establishing evidence- and research-based practices relies upon research synthesis of individual studies in reviews and meta analyses. Further summarizing scientific evidence about a specific topic by synthesizing reviews is an area of need to determine practices that have a strong evidence base and to identify areas of methodological weakness and gaps in the literature. A mega-review of literature reviews, systematic reviews, and meta-analyses on interventions using aided augmentative and alternative communication (AAC) interventions for children with intellectual and developmental disabilities from 2000 to mid-2020 was conducted. Participant and interventionist demographics, interventions, settings, outcomes, and recommendations of each review were reported and summarized. A MeaSurement Tool to Assess systematic Reviews Revised (AMSTAR 2; Shea et al., 2017) was used to examine the methodological rigor of 84 included reviews. Over the past 20 years, published reviews have increased slightly in methodological rigor but demonstrate a number of methodological weaknesses that detract from the strength of evidence for AAC interventions with this population. Suggestions for improving the methodological rigor of literature reviews and areas for future research specific to AAC interventions are discussed.

Lien vers le texte intégral (Open Access ou abonnement)

6. Gacek M, Krzywoszanski L. Symptoms of Anxiety and Depression in Students With Developmental Disabilities During COVID-19 Lockdown in Poland. Frontiers in psychiatry. 2021; 12: 576867.

Background: In this study we aimed to assess symptoms of anxiety and depression in persons with developmental disabilities during COVID-19 lockdown. Method: Soon after school closures related to the pandemic, we conducted telephone interviews with 64 vocational school students with developmental disabilities, the majority of whom had mild intellectual disability, and their parents. The parents were asked about stressful events experienced during lockdown. The students were assessed with screening measures for anxiety (GAD-7) and depression (PHQ-8). Results: Over one third of the tested students reported mild or more severe symptoms of anxiety and depression, and girls were more affected than boys. The number of experienced lockdown inconveniences predicted the severity of depression symptoms in girls. Discussion: The high prevalence of symptoms of anxiety and depression in persons with developmental disabilities indicates the need for screening studies and the provision of psychological help in situations such as the COVID-19 lockdown.

Lien vers le texte intégral (Open Access ou abonnement)

7. Hodge SM, Haselgrove C, Honor L, Kennedy DN, Frazier JA. An assessment of the autism neuroimaging literature for the prospects of re-executability. F1000Research. 2020; 9: 1031.

Background: The degree of reproducibility of the neuroimaging literature in psychiatric application areas has been called into question and the issues that relate to this reproducibility are extremely complex. Some of these complexities have to do with the underlying biology of the disorders that we study and others arise due to the technology we apply to the analysis of the data we collect. Ultimately, the observations we make get communicated to the rest of the community through publications in the scientific literature. Methods: We sought to perform a ‘re-executability survey’ to evaluate the recent neuroimaging literature with an eye toward seeing if the technical aspects of our publication practices are helping or hindering the overall quest for a more reproducible understanding of brain development and aging. The topic areas examined include availability of the data, the precision of the imaging method description and the reporting of the statistical analytic approach, and the availability of the complete results. We applied the survey to 50 publications in the autism neuroimaging literature that were published between September 16, 2017 to October 1, 2018. Results: The results of the survey indicate that for the literature examined, data that is not already part of a public repository is rarely available, software tools are usually named but versions and operating system are not, it is expected that reasonably skilled analysts could approximately perform the analyses described, and the complete results of the studies are rarely available. Conclusions: We have identified that there is ample room for improvement in research publication practices. We hope exposing these issues in the retrospective literature can provide guidance and motivation for improving this aspect of our reporting practices in the future.

Lien vers le texte intégral (Open Access ou abonnement)

8. Husain L, Berggren N, Remington A, Forster S. Intact Goal-Driven Attentional Capture in Autistic Adults. Journal of cognition. 2021; 4(1): 23.

BACKGROUND: Autistic individuals have been found to show increased distractibility by salient irrelevant information, yet reduced distractibility by information of personal motivational salience. Here we tested whether these prior discrepancies reflect differences in the automatic guidance of attention by top-down goals. METHODS: Autistic (self-reported diagnoses, confirmed with scores on the Social Responsiveness Scale) and non-autistic adults, without intellectual disability (IQ > 80 on Wechsler Abbreviated Scale of Intelligence), searched for a color-defined target object (e.g., red) among irrelevant color objects. Spatially uninformative cues, matching either the target color or a nontarget/irrelevant color, were presented prior to each display. RESULTS: Replicating previous work, only target color cues reliably captured attention, delaying responses when invalidly versus validly predicting target location. Crucially, this capture was robust for both autistic and neurotypical participants, as confirmed by Bayesian analysis. Limitations: While well powered for our research questions, our sample size precluded investigation of the automatic guidance of attention in a diverse group of autistic people (e.g. those with a range of cognitive abilities). CONCLUSIONS: Our findings imply that key mechanisms underlying the automatic implementation of top-down attentional goals are intact in autism, challenging theories of reduced top-down control.

Lien vers le texte intégral (Open Access ou abonnement)

9. Kallumkal GH, Jacob R, Edwards L. Etiology and Management of Behavioral Disorder in Adults With Intellectual and Developmental Disabilities. Cureus. 2021; 13(3): e14221.

Intellectual disability (ID) encompasses a wide variety of disorders that can severely affect an individual’s cognitive, social, emotional, and physical development, even when identified early in life. Initially, individuals with such disorders had shorter life expectancies. However, medical advances have increased the life expectancy of individuals with ID similar to that of the general population. More attention must be paid to manage diseases affecting the intellectually disabled elderly, such as diabetes, cardiovascular disease, chronic constipation, and behavioral disorders.

Lien vers le texte intégral (Open Access ou abonnement)

10. Kowalewska B, Drozdz W, Kowalewski L. Positron emission tomography (PET) and single-photon emission computed tomography (SPECT) in autism research: literature review. Irish journal of psychological medicine. 2021: 1-15.

BACKGROUND: Autism spectrum disorder (ASD) remains a behaviourally defined condition. Its molecular basis is unknown; however, its prevalence has been increasing significantly. There have been several abnormalities in neurotransmitter systems reported in ASD. In our review, we described studies involving positron emission tomography (PET) and single-photon emission computed tomography (SPECT) that can provide useful and corroborative data. METHOD: We conducted a literature review by comprehensive database searching on EMBASE, Scopus, PubMed, and PsychINFO looking for articles published since January 2009. Thirty-one studies were carefully selected – 22 PET studies and 9 SPECT studies – and reviewed by 2 independent researchers. References of the articles were also cross-checked. RESULTS: Results of the studies, which mainly involve small groups of participants, are frequently inconclusive and often controversial due to the nature of ASD and its wide spectrum. Studies are conducted under different conditions and with poor control for confounding factors which creates difficulties in comparing the data. CONCLUSIONS: There is ongoing need to improve methodology of the studies involving molecular imaging in ASD. Lack of consistent findings causes difficulties in evaluation, diagnosis, and treatment of the condition.

Lien vers le texte intégral (Open Access ou abonnement)

11. Lisbjerg K, Andersen MKG, Bertelsen M, Brost AG, Buchvald FF, Jensen RB, Bisgaard AM, Rosenberg T, Tümer Z, Kessel L. Oliver McFarlane syndrome: two new cases and a review of the literature. Ophthalmic genetics. 2021; 42(4): 464-73.

BACKGROUND: Oliver McFarlane syndrome is a rare syndrome. Clinical presentations include trichomegaly, chorioretinal degeneration, pituitary hormone deficits, and neurological manifestations. Genetic analysis has recently placed this syndrome within the group of PNPLA6-related disorders. Here, we describe two new individuals and review the previously published cases. MATERIALS AND METHODS: Clinical investigations were carried out in accordance with local guidelines and clinical information was retrieved from medical records. Genetic studies were carried out using next-generation sequencing based clinical exome sequencing. A PubMed literature search was performed with a review of the published clinical cases of Oliver McFarlane syndrome. RESULTS: Our first individual was a 36-year-old woman with 32 years of follow up and our second individual was a 3-year-old boy. Both individuals were born preterm and presented with prolonged neonatal respiratory distress, trichomegaly, early growth retardation, retinopathy and sparse depigmented hair. So far, none of our cases have demonstrated cognitive impairment or progressive neurological symptoms, but the child revealed persistent abnormal lung structure. Both individuals were compound heterozygous for pathogenic PNPLA6 variants, one of which was novel. We found other 31 clinically documented published cases. CONCLUSIONS: Our two new unrelated cases of Oliver McFarlane Syndrome demonstrate early ophthalmological and systemic findings of this rare syndrome and the progressive nature of the retinopathy with a long follow-up. PNPLA6-related disorders are a phenotypically highly heterogenous group where alterations in the phosphatidylcholine metabolism can lead to manifestations in different tissues with no clear genotype-phenotype correlation.

Lien vers le texte intégral (Open Access ou abonnement)

12. Peña Urbina P, García Caride S, Gómez de Liaño Sánchez R, Domingo Gordo B. Ocular involvement in two siblings with Cohen’s syndrome. Journal francais d’ophtalmologie. 2021; 44(7): e437-e40.

Lien vers le texte intégral (Open Access ou abonnement)

13. Schaller UM, Biscaldi M, Burkhardt A, Fleischhaker C, Herbert M, Isringhausen A, Tebartz van Elst L, Rauh R. ADOS-Eye-Tracking: The Archimedean Point of View and Its Absence in Autism Spectrum Conditions. Frontiers in psychology. 2021; 12: 584537.

Face perception and emotion categorization are widely investigated under laboratory conditions that are devoid of real social interaction. Using mobile eye-tracking glasses in a standardized diagnostic setting while applying the Autism Diagnostic Observation Schedule (ADOS-2), we had the opportunity to record gaze behavior of children and adolescents with and without Autism Spectrum Conditions (ASCs) during social interaction. The objective was to investigate differences in eye-gaze behavior between three groups of children and adolescents either (1) with ASC or (2) with unconfirmed diagnosis of ASC or (3) with neurotypical development (NTD) during social interaction with an adult interviewer in a diagnostic standard situation using the ADOS-2. In a case control study, we used mobile eye-tracking glasses in an ecologically valid and highly standardized diagnostic interview to investigate suspected cases of ASC. After completion of the ASC diagnostic gold standard including the ADOS-2, the participants were assigned to two groups based on their diagnosis (ASC vs. non-ASC) and compared with a matched group of neurotypically developed controls. The primary outcome measure is the percentage of total dwell times assessed for different areas of interest (AOI) with regard to the face and body of a diagnostic interviewer and the surrounding space. Overall, 65 children and adolescents within an age range of 8.3-17.9 years were included in the study. The data revealed significant group differences, especially in the central-face area. Previous investigations under laboratory conditions gave preferential attention to the eye region during face perception to describe differences between ASC and NTD. In this study – using an ecologically valid setting within a standard diagnostic procedure – the results indicate that neurotypically developed controls seem to process faces and facial expressions in a holistic manner originating from the central-face region. Conversely, participants on the Autism Spectrum (tAS) seem to avoid the central-face region and show unsystematic gaze behavior, not using the preferred landing position in the central-face region as the Archimedean point of face perception. This study uses a new approach, and it will be important to replicate these preliminary findings in future research.

Lien vers le texte intégral (Open Access ou abonnement)

14. Schmengler H, Cohen D, Tordjman S, Melchior M. Autism Spectrum and Other Neurodevelopmental Disorders in Children of Immigrants: A Brief Review of Current Evidence and Implications for Clinical Practice. Frontiers in psychiatry. 2021; 12: 566368.

Children of immigrants may have higher neurodevelopmental risks than those of non-immigrant populations. Yet, some evidence suggests that this group may receive late diagnosis, and therefore miss beneficial early interventions. Clinicians may misattribute symptoms of disorders to other social, behavioral or language problems. Likewise, there might be cultural differences in parents’ likelihood of perceiving or reporting first developmental concerns to clinicians. Population-based standardized screening may play an important role in addressing ethnic inequalities in the age at diagnosis, although further research focusing on cross-cultural use is necessary. Once children are diagnosed, clinicians may rely on culturally sensitive procedures (translation services, cultural mediators) to increase the accessibility of interventions and improve adherence among immigrant families. In this brief review, we provide an overview about what is currently known about the epidemiology and risk factors of neurodevelopmental disorders, paying special attention to autism spectrum disorder (ASD), in children of immigrants and suggest the necessity of population-based screening and culturally sensitive care.

Lien vers le texte intégral (Open Access ou abonnement)

15. Toft G, Liu C, Menon J, Schendel D, Loss G, Ehrenstein V. Assessment of Educational Attainment and Employment Among Individuals With Autism Spectrum Disorder in Denmark. JAMA pediatrics. 2021; 175(6): 601-8.

IMPORTANCE: Population-based data on educational and employment outcomes in adulthood among individuals diagnosed with autism spectrum disorder (ASD) in childhood are currently limited. OBJECTIVE: To evaluate educational attainment and employment among individuals with and without a diagnosis of ASD before age 12 years in Denmark. DESIGN, SETTING, AND PARTICIPANTS: This nationwide cross-sectional prevalence study was conducted using data from Danish registers. Individuals with a diagnosis of ASD recorded before age 12 years were identified among all individuals born in Denmark between January 1, 1989, and December 31, 1991, who were alive at age 25 years. Individuals with ASD were then matched on a 10:1 ratio by age, sex, and region of residence with a comparison population of individuals without a diagnosis of ASD at age 12 years. Data were analyzed from March 2019 to December 2020. EXPOSURES: Autism spectrum disorder diagnosis and diagnostic subtype recorded before age 12 years. MAIN OUTCOMES AND MEASURES: Adjusted prevalence ratios (aPRs) with 95% CIs for the completion of compulsory primary and lower secondary school (grade 9), upper secondary school (grades 10-12 or vocational), and tertiary school (university) and for employment by age 25 years were estimated using log-binomial regression analysis. RESULTS: A total of 810 individuals with a diagnosis of ASD before age 12 years were matched with a comparison population of 8100 individuals without ASD. The prevalence of ninth-grade completion was similar among those with and without ASD (785 individuals [96.9%] and 7982 individuals [98.5%], respectively; aPR, 0.98; 95% CI, 0.97-1.00). Compared with those without ASD, persons with ASD had a lower prevalence of completing upper secondary school (6338 individuals [78.2%] vs 286 individuals [35.3%], respectively; aPR, 0.46; 95% CI, 0.42-0.50) and tertiary school (2185 individuals [27.0%] vs 70 individuals [8.6%]; aPR, 0.33; 95% CI, 0.26-0.41) and obtaining employment (4284 individuals [77.7%] vs 177 individuals [27.2%]; aPR, 0.35; 95% CI, 0.31-0.40) at age 25 years. A ninth-grade final examination score was available for 394 individuals (48.6%) with ASD and 7417 individuals (91.6%) without ASD. In an analysis stratified by ASD subtype, individuals diagnosed with childhood autism had lower educational attainment and employment than those diagnosed with Asperger syndrome or pervasive developmental disorder not otherwise specified. A total of 461 individuals (56.9%) with ASD were receiving public assistance or a pension (ie, disability benefits) at age 25 years compared with 1094 individuals (13.5%) without ASD in the comparison population. CONCLUSIONS AND RELEVANCE: In this population-based cross-sectional study, a diagnosis of ASD in childhood was not associated with the completion of compulsory primary and lower secondary education (ninth grade). An ASD diagnosis before age 12 years was associated with a lower prevalence of attaining education beyond ninth grade and obtaining employment by age 25 years, indicating a substantially higher risk of reliance on public assistance in young adulthood.

Lien vers le texte intégral (Open Access ou abonnement)

16. Wantzen P, Boursette A, Zante E, Mioche J, Eustache F, Guénolé F, Baleyte JM, Guillery-Girard B. Autobiographical Memory and Social Identity in Autism: Preliminary Results of Social Positioning and Cognitive Intervention. Frontiers in psychology. 2021; 12: 641765.

Autobiographical memory (AM) is closely linked to the self-concept, and fulfills directive, identity, social, and adaptive functions. Individuals with autism spectrum disorder (ASD) are now known to have atypical AM, which may be closely associated with social communication difficulties. This may result in qualitatively different autobiographical narratives, notably regarding social identity. In the present study, we sought to investigate this concept and develop a cognitive intervention targeting individuals with ASD. First, 13 adolescents with ASD and 13 typically developing adolescents underwent an AM interview featuring an original coding system designed to analyze the social self. We observed that the narratives produced by the ASD group focused more on the family than on extended social spheres, compared with those of the comparison group. Moreover, participants with ASD did not include themselves in the social groups they mentioned, and produced more references to others, compared with typically developing participants. Second, we designed a cognitive intervention program consisting of individual and group sessions that targeted AM. We conducted a pilot study among three adolescents with ASD aged 12, 16, and 17 years. Preliminary results showed that the program increased extra-family narrative references by the two youngest adolescents, who produced more social integration markers. Our study of autobiographical narratives yielded interesting findings about social positioning in ASD and showed how AM can be targeted in rehabilitation programs as a vector of social interaction.

Lien vers le texte intégral (Open Access ou abonnement)