1. Evans K, van der Meer L, Eggleston MJF, Taylor LJ, Thabrew H, Waddington H, Whitehouse AJO. A Survey of Autistic Adults from New Zealand on the Autism Diagnostic Process During Adolescence and Adulthood. Journal of autism and developmental disorders. 2022; 52(2): 771-81.

The diagnostic experiences of autistic adults in New Zealand have not been investigated and little is known globally about autistic adults’ satisfaction with the autism diagnostic process. This study describes the diagnostic experiences of 70 autistic adults living in New Zealand and explores how these experiences are related to satisfaction during three stages of the diagnostic process. The results show that autistic adults were reasonably satisfied with the early query and diagnostic assessment stages, but were dissatisfied with the post-diagnostic support stage, with significant unmet needs. Dissatisfaction during the post-diagnostic support stage was also related to satisfaction during previous stages and poor coordination of supports. Suggestions are made on how to improve the autism diagnostic pathway for autistic adults in New Zealand.

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2. Fritz R, Edwards L, Jacob R. Osteoporosis in Adult Patients with Intellectual and Developmental Disabilities: Special Considerations for Diagnosis, Prevention, and Management. Southern medical journal. 2021; 114(4): 246-51.

As medical care progresses, patients with intellectual and developmental disabilities are living longer and beginning to experience diseases that commonly afflict the aging population, such as osteoporosis. Osteoporosis and resultant fractures increase disability and threaten the independence of this vulnerable population. In addition, the diagnosis, prevention, and management of osteoporosis present unique challenges in these patients. Critical preventive targets include exercise modification, fall prevention, and monitoring for nutrient deficiencies. Commonly used in diagnosis and treatment monitoring, dual-energy x-ray absorptiometry (DXA) scan of the hip and spine may not be feasible, whereas peripheral DXA or computed tomography may be more accessible for patients with physical disabilities. Pharmacological treatment should be tailored to the individual patient, considering factors such as adherence and comorbidities. Finally, bone turnover markers are a noninvasive, cost-effective option for monitoring treatment response in patients who cannot undergo DXA.

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3. Gui A, Bussu G, Tye C, Elsabbagh M, Pasco G, Charman T, Johnson MH, Jones EJH. Attentive brain states in infants with and without later autism. Translational psychiatry. 2021; 11(1): 196.

Early difficulties in engaging attentive brain states in social settings could affect learning and have cascading effects on social development. We investigated this possibility using multichannel electroencephalography during a face/non-face paradigm in 8-month-old infants with (FH, n = 91) and without (noFH, n = 40) a family history of autism spectrum disorder (ASD). An event-related potential component reflecting attention engagement, the Nc, was compared between FH infants who received a diagnosis of ASD at 3 years of age (FH-ASD; n = 19), FH infants who did not (FH-noASD; n = 72) and noFH infants (who also did not, hereafter noFH-noASD; n = 40). ‘Prototypical’ microstates during social attention were extracted from the noFH-noASD group and examined in relation to later categorical and dimensional outcome. Machine-learning was used to identify the microstate features that best predicted ASD and social adaptive skills at three years. Results suggested that whilst measures of brain state timing were related to categorical ASD outcome, brain state strength was related to dimensional measures of social functioning. Specifically, the FH-ASD group showed shorter Nc latency relative to other groups, and duration of the attentive microstate responses to faces was informative for categorical outcome prediction. Reduced Nc amplitude difference between faces with direct gaze and a non-social control stimulus and strength of the attentive microstate to faces contributed to the prediction of dimensional variation in social skills. Taken together, this provides consistent evidence that atypical attention engagement precedes the emergence of difficulties in socialization and indicates that using the spatio-temporal characteristics of whole-brain activation to define brain states in infancy provides an important new approach to understanding of the neurodevelopmental mechanisms that lead to ASD.

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4. Ijezie OA, Okagbue HI, Oloyede OA, Heaslip V, Davies P, Healy J. Coronavirus disease 2019 (COVID-19) and individuals with intellectual and developmental disabilities in Nigeria. Journal of public affairs. 2021: e2601.

This article chronicles the present situation of coronavirus disease 2019 (COVID-19) on individuals with intellectual and developmental disabilities (IDD) in Nigeria. A systematic search was conducted on three bibliographic databases: MEDLINE Complete, Web of Science and Scopus, and supplemented with grey literature searches to assess studies on the effect of COVID-19 on these individuals in Nigeria with data on this group from December 2019 to July 2020. There were no studies found concerning individuals with IDD in Nigeria. This article argues for an urgent call to action by Nigerian policymakers to make data available to help understand the impact of COVID-19 and to develop and implement appropriate interventions. This article provides steps to support and care for these individuals in Nigeria. Forecasting models are recommended which offer better approaches in yielding accurate predictions and provide valuable decisions in the event of future threats and infectious disease outbreak in Nigeria.

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5. Jonak CR, Sandhu MS, Assad SA, Barbosa JA, Makhija M, Binder DK. Correction to: The PDE10A Inhibitor TAK-063 Reverses Sound-Evoked EEG Abnormalities in a Mouse Model of Fragile X Syndrome. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. 2021; 18(2): 1427.

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6. Joshi R, Marvin W. Apnea with ketamine sedation in a patient with severe anorexia nervosa: A case report. Eating and weight disorders : EWD. 2022; 27(1): 387-9.

BACKGROUND: There is a paucity of literature around sedation and anesthesia in patients with severe anorexia nervosa. Chronically malnourished patients are known to have myopathy, neuropathy, and altered neurotransmitter signaling. Ketamine is a non-competitive N-methyl-D-aspartate (NMDA) receptor antagonist that is an established general anesthetic and short-acting dissociative analgesic agent. It generally has a reassuring adverse event profile and rarely has been reported to result in apnea. We aim to raise awareness of this untoward adverse event in patients with severe anorexia nervosa among sedation providers and those referring patients for hospitalization or sedation. CASE PRESENTATION: We describe an episode of apnea, a rare adverse event of ketamine, which was given for procedural sedation to a severely malnourished 13-year-old female with anorexia nervosa, generalized anxiety disorder, and high-functioning autism spectrum disorder. She had no history of apnea nor of ketamine sedation. She was given a standard dose of ketamine and had no other central nervous system depressants within 24 h. Within 1 min after slow medication administration, she had a 9-min period of apnea without laryngospasm. She was supported with bag-valve-mask ventilation throughout this period and did not require intubation. She returned to baseline shortly after procedural sedation. CONCLUSIONS: This case describes apnea after ketamine sedation in a patient with severe anorexia nervosa. It supports the importance of a thorough pre-procedure review of a patient’s underlying medical problems and the consideration of how sedatives may interact with these conditions. We aim to alert those who care for this complex population of the possible altered neurotransmitters, myopathy, and adverse response to sedation, anesthetics, and analgesics.

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7. Nomura Y, Nomura J, Kamiguchi H, Nishikawa T, Takumi T. Transcriptome analysis of human neural cells derived from isogenic embryonic stem cells with 16p11.2 deletion. Neuroscience research. 2021; 171: 114-23.

16p11.2 deletion is one of the most influential copy number variations (CNVs) associated with autism spectrum disorder (ASD). Previous studies have investigated the pathophysiology of 16p11.2 deletion both in vitro and in vivo, and have identified features such as NMDAR dysfunction, excitation-inhibition imbalance, transcriptional dysregulation, and impaired cortical development. However, little is known about the transcriptional profiles of human neural cells. Here, we constructed an isogenic human embryonic stem (hES) cell model with 16p11.2 deletion using a CRISPR/Cas9 system and performed transcriptome analyses of hES-derived 2-dimensional neural cells. We identified several characteristics which may correlate with the neuropathology of 16p11.2 deletion: predisposition to differentiate into neural lineages, enhanced neurogenesis, and dysregulation of G protein-coupled receptor signaling and RAF/MAPK pathway. We also found upregulation of fragile X mental retardation protein (FMRP) target genes including GRM5, which is implicated as a common trait between 16p11.2 deletion and fragile X syndrome. Extending our knowledge into other ASD models would help us to understand the molecular pathology of this disorder.

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8. Perry E, Mandy W, Hull L, Cage E. Understanding Camouflaging as a Response to Autism-Related Stigma: A Social Identity Theory Approach. Journal of autism and developmental disorders. 2022; 52(2): 800-10.

Camouflaging refers to strategies used by autistic people to mask or hide social difficulties. The current study draws on Social Identity Theory to examine the relationship between camouflaging and autism-related stigma, testing the hypothesis that camouflaging represents an individualistic strategy in response to stigma. Two hundred and twenty-three autistic adults completed an online survey measuring perceived autism-related stigma, individualistic and collective strategies, camouflaging and mental wellbeing. Results indicated that higher camouflaging was positively associated with autism-related stigma and both individualistic and collective strategy use. Autism-related stigma was associated with lower wellbeing however this relationship was not mediated by camouflaging. These findings demonstrate how stigma contributes to camouflaging and highlight the complexities of navigating autistic identity while still camouflaging.

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9. Speyer LG, Brown RH, Camus L, Murray AL, Auyeung B. Alexithymia and Autistic Traits as Contributing Factors to Empathy Difficulties in Preadolescent Children. Journal of autism and developmental disorders. 2022; 52(2): 823-34.

Recent evidence suggests that, contrary to traditional views, empathy difficulties may not be a core feature of autism; but are rather due to co-occurring alexithymia. Empathy, alexithymia and autistic traits have yet to be examined concurrently in children. Therefore, we examined the co-occurrence of empathy difficulties and alexithymia in 59 typically developing and 5 autistic children. Multiple measures (self-report, parent-report and a behavioural task) were used to evaluate empathy and to assess differences in self- and parent-reports using multiple regressions. Alexithymia was found to predict empathy significantly better than autistic traits, providing support for the alexithymia hypothesis. From a therapeutic perspective, results suggest autistic children who screen positive for elevated alexithymic traits may benefit from additional support targeting emotion identification.

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10. Vandenberg GG, Dawson NJ, Head A, Scott GR, Scott AL. Astrocyte-mediated disruption of ROS homeostasis in Fragile X mouse model. Neurochemistry international. 2021; 146: 105036.

Astrocytes, glial cells within the brain, work to protect neurons during high levels of activity by maintaining oxidative homeostasis via regulation of energy supply and antioxidant systems. In recent years, mitochondrial dysfunction has been highlighted as an underlying factor of pathology in many neurological disorders. In animal studies of Fragile X Syndrome (FXS), the leading genetic cause of autism, higher levels of reactive oxygen species, lipid peroxidation, and protein oxidation within the brain indicates that mitochondria function is also altered in FXS. Despite their integral contribution to redox homeostasis within the CNS, the role of astrocytes on the occurrence or progression of neurodevelopmental disorders in this way is rarely considered. This study specifically examines changes to astrocyte mitochondrial function and antioxidant expression that may occur in FXS. Using the Fmr1 knockout (KO) mouse model, mitochondrial respiration and reactive oxygen species (ROS) emission were analyzed in primary cortical astrocytes. While mitochondrial respiration was similar between genotypes, ROS emission was significantly elevated in Fmr1 KO astrocytes. Notably, NADPH-oxidase 2 expression in Fmr1 KO astrocytes was also enhanced but only changes in catalase antioxidant enzyme expression were noted. Characterization of astrocyte factors involved in redox imbalance is invaluable to uncovering potential sources of oxidative stress in neurodevelopmental disorders and more specifically, the intercellular mechanisms that contribute to dysfunction in FXS.

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11. Walsh MB, Charen K, Shubeck L, McConkie-Rosell A, Ali N, Bellcross C, Sherman SL. Men with an FMR1 premutation and their health education needs. Journal of genetic counseling. 2021; 30(4): 1156-67.

Men who carry an FMR1 premutation are at-risk to develop a late-onset neurodegenerative disorder called fragile X-Associated Ataxia/Tremor syndrome (FXTAS). However, little is known about their health informational needs. This qualitative study is the first to describe diagnostic experiences and identify specific health information needs of male premutation carriers. In-depth qualitative interviews were conducted by phone with ten men who carry an FMR1 premutation. Interviews were analyzed using direct content analysis. Saturation was assessed through use of the Comparative Method for Themes Saturation in qualitative interviews (CoMeTS). Five themes were identified: diagnosis experience, sources of health information, desired health information, barriers to obtaining health information, and facilitators to desired health information. Participants desired information about inheritance, symptoms, expectations for disease, and actions available to slow progression. Facilitators to obtaining health information included healthcare provider knowledge, positive experiences with providers, beneficial family dynamics, participating in research, and access to experts. Barriers to obtaining health information included lack of personal knowledge, lack of healthcare provider knowledge, negative experiences with providers, and uncertainty. Addressing the educational needs of men with/at-risk for FXTAS could improve the quality of life of men who carry a fragile X premutation.

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12. Wang H, Du Y, Mao Z, Che Y, Li H, Ding L, Jin H. Use of the Griffiths mental development scale-Chinese in the assessment of children with autism spectrum disorder and global developmental delay/intellectual disability. Medicine. 2021; 100(13): e25407.

The Griffiths Mental Development Scale-Chinese (GDS-C) is used in China to assess the development of children from birth to 8 years of age. Language disorders are a common symptom of autism spectrum disorder (ASD) and global developmental delay (GDD)/intellectual disability (ID). There is a need to identify distinct clinical characteristics in children suspected of having these 2 disorders, mainly presenting as language disorders. Here, we aimed to use the GDS-C to evaluate children presenting with language problems to identify characteristics that distinguish ASD and GDD/ID. Children with language problems were recruited between August 2018 and December 2019. A total of 150 children aged 25 to 95.2 months were enrolled (50 in the ASD group, 50 in the GDD/ID group, and 50 in the typical group). Each group was subdivided by age as follows: 24-36 months, >36-60 months, and >60-96 months. Developmental characteristics assessed using the GDS-C were analyzed and compared. Both, children with ASD and GDD/ID presented with a lower developmental level than typical children in all six subscales of the GDS-C. No significant differences were observed in the six subscale scores between the ASD and GDD/ID groups, except for the practical reasoning subscale score in the >36 to 60 months subgroups, which was significantly lower in the GDD/ID group than in the ASD group. The developmental imbalance of subscales within the ASD and GDD/ID groups identified troughs in the personal-social, language, and practical reasoning areas in children with ASD and in the language and practical reasoning areas in children with GDD/ID relative to typical children. The GDS-C is a useful, comprehensive tool for the assessment of the developmental state of children with ASD and GDD/ID. Characteristics of practical reasoning subscale help diagnose autism in >36 to 60 months old children.

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13. Wong LC, Chen YT, Tsai SM, Lin YJ, Hsu CJ, Wang HP, Hu SC, Shen HY, Tsai WC, Lee WT. Dietary intake and growth deficits in Rett syndrome-A cross-section study. Autism research : official journal of the International Society for Autism Research. 2021; 14(7): 1512-21.

Growth deficit is a common comorbidity and one of the supportive criteria in Rett syndrome (RTT). This study aimed to investigate the impact of dystonia, dietary intakes, and clinical severities on growth patterns in a Taiwanese cohort of RTT. We recruited 44 RTT patients with MECP2 mutation for analysis. For individuals ≤18 years of age, in comparison to the RTT-specific growth chart which comprised American RTT cohort, the body height was right-shifted to a higher percentile, whereas the body weight was left-shifted to a lower percentile. Furthermore, the body mass index was significantly decreased when compared to RTT-specific growth chart (p = 0.01). Higher degree of overall disease severity (odd ratio = 1.159; 95% CI = 1.063-1.264; p = 0.001) and hand use impairment (odd ratio = 2.017; 95% CI = 1.037, 3.921; p = 0.039) were associated with more severe growth patterns. All individuals had dystonia at certain variable degrees. The dystonia worsened with age (p < 0.001) but did not have significant impact on growth deficit. Most of our cohort had adequate protein (97.37%) and energy (58.97%) intakes. The fiber intakes were generally low, with about 38 (97.4%) individuals did not meet the daily reference intakes of fiber. The protein intake was significantly lower in individuals with severe growth deficit (p = 0.04). Our study shows that ethnicity should be considered when comparing RTT individuals' growth pattern to the RTT-specific growth chart. Further, disease severity, genotypes, and nutrition exert important impacts on RTT-growth pattern. LAY SUMMARY: Growth impairment is an important issue in Rett syndrome and the underlying patho-mechanism is multifactorial. Higher degree of overall disease severity and hand use impairment were associated with more severe growth pattern deficits. Although all individuals had dystonia at certain variable degrees and the dystonia worsened with age, but it did not have significant impact on growth deficit. Nutritional intakes may partially affect growth. Furthermore, ethnicity should be considered when comparing RTT individuals' growth pattern to the RTT-specific growth chart.

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