Pubmed du 02/02/24
1. Correction to « Prevalence of gastrointestinal symptoms among autistic individuals, with and without co-occurring intellectual disability ». Autism Res;2024 (Feb 2)
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2. Durrani S, Ahmed S. Case report: a unique presentation of memantine overdose causing echolalia and hypertension. BMC Geriatr;2024 (Feb 1);24(1):123.
BACKGROUND: Since 2003 when memantine was first approved for use in the management of moderate-severe Alzheimer’s dementia, its use has become more widespread and is being explored in other diseases like neuropathic pain, epilepsy, and mood disorders. Our case uniquely highlights two important adverse effects in a patient who overdosed on memantine. One is hypertension, which is easy to overlook as a medication side effect. The other is echolalia which is the repetition of words and phrases spoken by another person. It is commonly seen in children with autism spectrum disorder and has been reported in older adults with head injuries, delirium, and neurocognitive disorders. The aim of this patient story is to highlight the importance of medication reconciliation with caregivers and knowledge of adverse drug reactions in patient management. This case report has been presented previously in the form of an abstract at the American Geriatrics Society Presidential poster session in May 2023. CASE PRESENTATION: Our patient is an 86-year-old man with mild dementia and hypertension, who was brought to the emergency department (ED) due to abrupt onset of altered mental status and auditory hallucinations. Investigations including blood work, CT head and an electroencephalogram (EEG) did not reveal an etiology for this change in his condition. Due to elevated blood pressure on presentation, a nicardipine drip was started, and he was given IV midazolam to assist with obtaining imaging. While reviewing medications with his daughter, it was noted that sixty memantine pills were missing from the bottle. Poison control was contacted and they confirmed association of these features with memantine. With supportive care, his symptoms resolved in less than 100 h, consistent with the half-life of memantine. Notably, our patient was started on Memantine one month prior to this presentation. CONCLUSIONS: Hypertensive urgency and echolalia were the most striking symptoms of our patient’s presentation. Though hypertension is a known sign of memantine overdose, it can easily be contributed to medication non-compliance in patients with dementia, being treated for hypertension. According to our literature review, this the first case of memantine overdose presenting with echolalia, a sign that is not commonly associated with adverse reactions to medications. This highlights the importance of an early medication review, especially with caregivers of people with dementia.
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3. Guevara VLS, Coêlho RF, Flores EP. Effects of dialogic reading for comprehension (LuDiCa) on the social interaction of autistic adolescents and their peers. Psicol Reflex Crit;2024 (Feb 2);37(1):4.
BACKGROUND: In today’s contemporary world, relationships take a prominent role in the lives of adolescents. However, challenges related to mutual understanding and a lack of inclusive environments can often lead to autistic teens feeling excluded. OBJECTIVE: In order to assess the impact of naturalistic interventions on interpersonal relationships, we conducted an experimental test utilizing Dialogic Reading for Comprehension (LuDiCa) in online reading circles with groups comprising both autistic and neurotypical adolescents. Our focus was on exploring its relevance for enhancing social interaction, particularly in terms of conversational acts, sharing experiences, initiations, and questions. METHODS: Five autistic and five neurotypical students between 11 and 15 years old from a public school in Brasilia, Federal District, participated. We paired groups A and B (made up of trios of teenagers) and groups C and D (made up of pairs) in a multiple baseline design per reading group, in which all groups went through the baseline conditions (BL), intervention (LuDiCa) and maintenance. RESULTS: LuDiCa increased the frequency of conversational acts of both autistic participants and neurotypical peers. In addition, the intervention favored initiations, questions, and sharing experiences, through the shared activity of reading and talking about a work of fiction. Participants rated the intervention in relation to the platform, the book, the reading facilitator, and interaction with peers. We discuss the potential of the facilitator’s role in favoring interactions and the potential of LuDiCa as a joint activity for the engagement of adolescents. We also include suggestions for future research focused on the online context and discuss some limitations of the LuDiCa intervention. CONCLUSION: In summary, our study offers initial experimental evidence demonstrating the positive impact of LuDiCa on social interaction behaviors among both autistic and neurotypical adolescents within an inclusive setting.
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4. Johnson KP, Zarrinnegar P. Autism Spectrum Disorder and Sleep. Psychiatr Clin North Am;2024 (Mar);47(1):199-212.
Children and adolescents with autism spectrum disorder (ASD) experience sleep disturbances, particularly insomnia, at rates much higher than the general population. Daytime behavioral problems and parental stress are associated with the resultant sleep deprivation. Behavioral interventions, parental education, and melatonin are effective treatments. The epidemiology of sleep disturbances in youth with ASD is reviewed in this article as well as the latest in treatments.
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5. Kumari D, Lokanga RA, McCann C, Ried T, Usdin K. The fragile X locus is prone to spontaneous DNA damage that is preferentially repaired by nonhomologous end-joining to preserve genome integrity. iScience;2024 (Feb 16);27(2):108814.
A long CGG-repeat tract in the FMR1 gene induces the epigenetic silencing that causes fragile X syndrome (FXS). Epigenetic changes include H4K20 trimethylation, a heterochromatic modification frequently implicated in transcriptional silencing. Here, we report that treatment with A-196, an inhibitor of SUV420H1/H2, the enzymes responsible for H4K20 di-/trimethylation, does not affect FMR1 transcription, but does result in increased chromosomal duplications. Increased duplications were also seen in FXS cells treated with SCR7, an inhibitor of Lig4, a ligase essential for NHEJ. Our study suggests that the fragile X (FX) locus is prone to spontaneous DNA damage that is normally repaired by NHEJ. We suggest that heterochromatinization of the FX allele may be triggered, at least in part, in response to this DNA damage.
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6. Lai B, Yi A, Zhang F, Wang S, Xin J, Li S, Yu L. Atypical brain lateralization for speech processing at the sublexical level in autistic children revealed by fNIRS. Sci Rep;2024 (Feb 2);14(1):2776.
Autistic children often exhibit atypical brain lateralization of language processing, but it is unclear what aspects of language contribute to this phenomenon. This study employed functional near-infrared spectroscopy to measure hemispheric lateralization by estimating hemodynamic responses associated with processing linguistic and non-linguistic auditory stimuli. The study involved a group of autistic children (N = 20, mean age = 5.8 years) and a comparison group of nonautistic peers (N = 20, mean age = 6.5 years). The children were presented with stimuli with systematically decreasing linguistic relevance: naturalistic native speech, meaningless native speech with scrambled word order, nonnative speech, and music. The results revealed that both groups showed left lateralization in the temporal lobe when listening to naturalistic native speech. However, the distinction emerged between autism and nonautistic in terms of processing the linguistic hierarchy. Specifically, the nonautistic comparison group demonstrated a systematic reduction in left lateralization as linguistic relevance decreased. In contrast, the autism group displayed no such pattern and showed no lateralization when listening to scrambled native speech accompanied by enhanced response in the right hemisphere. These results provide evidence of atypical neural specialization for spoken language in preschool- and school-age autistic children and shed new light on the underlying linguistic correlates contributing to such atypicality at the sublexical level.
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7. Li J, Kong X, Sun L, Chen X, Ouyang G, Li X, Chen S. Identification of autism spectrum disorder based on electroencephalography: A systematic review. Comput Biol Med;2024 (Jan 29);170:108075.
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by difficulties in social communication and repetitive and stereotyped behaviors. According to the World Health Organization, about 1 in 100 children worldwide has autism. With the global prevalence of ASD, timely and accurate diagnosis has been essential in enhancing the intervention effectiveness for ASD children. Traditional ASD diagnostic methods rely on clinical observations and behavioral assessment, with the disadvantages of time-consuming and lack of objective biological indicators. Therefore, automated diagnostic methods based on machine learning and deep learning technologies have emerged and become significant since they can achieve more objective, efficient, and accurate ASD diagnosis. Electroencephalography (EEG) is an electrophysiological monitoring method that records changes in brain spontaneous potential activity, which is of great significance for identifying ASD children. By analyzing EEG data, it is possible to detect abnormal synchronous neuronal activity of ASD children. This paper gives a comprehensive review of the EEG-based ASD identification using traditional machine learning methods and deep learning approaches, including their merits and potential pitfalls. Additionally, it highlights the challenges and the opportunities ahead in search of more effective and efficient methods to automatically diagnose autism based on EEG signals, which aims to facilitate automated ASD identification.
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8. Mhanna A, Martini N, Hmaydoosh G, Hamwi G, Jarjanazi M, Zaifah G, Kazzazo R, Haji Mohamad A, Alshehabi Z. The correlation between gut microbiota and both neurotransmitters and mental disorders: A narrative review. Medicine (Baltimore);2024 (Feb 2);103(5):e37114.
The gastrointestinal tract is embedded with microorganisms of numerous genera, referred to as gut microbiota. Gut microbiota has multiple effects on many body organs, including the brain. There is a bidirectional connection between the gut and brain called the gut-brain-axis, and these connections are formed through immunological, neuronal, and neuroendocrine pathways. In addition, gut microbiota modulates the synthesis and functioning of neurotransmitters. Therefore, the disruption of the gut microbiota in the composition or function, which is known as dysbiosis, is associated with the pathogenesis of many mental disorders, such as schizophrenia, depression, and other psychiatric disorders. This review aims to summarize the modulation role of the gut microbiota in 4 prominent neurotransmitters (tryptophan and serotonergic system, dopamine, gamma-aminobutyric acid, and glutamate), as well as its association with 4 psychiatric disorders (schizophrenia, depression, anxiety disorders, and autism spectrum disorder). More future research is required to develop efficient gut-microbiota-based therapies for these illnesses.
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9. Ratsapbhayakul T, Keeratitanont K, Chonprai C, Auvichayapat N, Suphakunpinyo C, Patjanasoontorn N, Tiamkao S, Tunkamnerdthai O, Punjaruk W, Auvichayapat P. Anodal transcranial direct-current stimulation and non-verbal intelligence in autism spectrum disorder: A randomized controlled trial. Dev Med Child Neurol;2024 (Feb 2)
AIM: To understand the impact of anodal transcranial direct-current stimulation (tDCS) on non-verbal intelligence in high-functioning young adults with autism spectrum disorder (ASD). METHOD: Thirty individuals with ASD were randomly divided into three groups receiving 2 mA, 20 minutes daily anodal tDCS for 10 sessions. Group A received 10 sham tDCS sessions, group B five real followed by five sham sessions, and group C received 10 real tDCS sessions. The total score of non-verbal intelligence was measured using the Test of Nonverbal Intelligence, Fourth Edition. The left dorsolateral prefrontal cortex (LDLPFC) was targeted using the International 10-20 electroencephalography system, and concurrent cognitive training was avoided. RESULTS: Group C demonstrated a mean difference of 4.10 (95% confidence interval 1.41-6.79; p = 0.005) in Test of Nonverbal Intelligence scores compared with group A, with an effect size of 0.47. No significant differences were observed between groups A and B (p = 0.296), or between groups B and C (p = 0.140). INTERPRETATION: Ten sessions of anodal tDCS to the LDLPFC led to improved non-verbal intelligence among individuals with ASD. These results emphasize the potential of tDCS as a discrete method for boosting cognitive abilities in the high-functioning population with ASD. Future studies with larger groups of participants and extended observation periods are necessary to validate these findings.
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10. Smythe T, Scherer N, Nanyunja C, Tann CJ, Olusanya BO. Strategies for addressing the needs of children with or at risk of developmental disabilities in early childhood by 2030: a systematic umbrella review. BMC Med;2024 (Feb 2);22(1):51.
BACKGROUND: There are over 53million children worldwide under five with developmental disabilities who require effective interventions to support their health and well-being. However, challenges in delivering interventions persist due to various barriers, particularly in low-income and middle-income countries. METHODS: We conducted a global systematic umbrella review to assess the evidence on prevention, early detection and rehabilitation interventions for child functioning outcomes related to developmental disabilities in children under 5 years. We focused on prevalent disabilities worldwide and identified evidence-based interventions. We searched Medline, Embase, PsychINFO, and Cochrane Library for relevant literature from 1st January 2013 to 14th April 2023. A narrative synthesis approach was used to summarise the findings of the included meta-analyses. The results were presented descriptively, including study characteristics, interventions assessed, and outcomes reported. Further, as part of a secondary analysis, we presented the global prevalence of each disability in 2019 from the Global Burden of Disease study, identified the regions with the highest burden and the top ten affected countries. This study is registered with PROSPERO, number CRD42023420099. RESULTS: We included 18 reviews from 883 citations, which included 1,273,444 children under five with or at risk of developmental disabilities from 251 studies across 30 countries. The conditions with adequate data were cerebral palsy, hearing loss, cognitive impairment, autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder. ASD was the most prevalent target disability (n = 8 reviews, 44%). Most reviews (n = 12, 67%) evaluated early interventions to support behavioural functioning and motor impairment. Only 33% (n = 10/30) of studies in the reviews were from middle-income countries, with no studies from low-income countries. Regarding quality, half of reviews were scored as high confidence (n = 9/18, 50%), seven as moderate (39%) and two (11%) as low. CONCLUSIONS: We identified geographical and disability-related inequities. There is a lack of evidence from outside high-income settings. The study underscores gaps in evidence concerning prevention, identification and intervention, revealing a stark mismatch between the available evidence base and the regions experiencing the highest prevalence rates of developmental disabilities.
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11. St John BM, Ausderau KK. The characterization of feeding challenges in autistic children. Autism;2024 (Feb 2):13623613241227518.
Feeding challenges are common for autistic children. Currently, research and intervention for feeding challenges focuses on single factors (e.g. behavior or sensory). Research is needed to understand the complexity of feeding challenges. This study provides a comprehensive description of feeding challenges. Furthermore, this study identifies what factors predict the severity and type of feeding challenges experienced by autistic children. Using the Survey for Characterization of Feeding Challenges in Autistic Children-United States, 427 caregivers of autistic children provided information about their child’s feeding challenges. Children were between the ages of 2 and 12 with an average age of 8.42 years. Children in the study had a wide variety of feeding difficulties including challenges in early childhood, sensory challenges, difficulty with family mealtime, and variable self-help skills. On average children’s feeding challenges were present prior to their autism diagnosis. We found that children who had early feeding challenges had more severe feeding challenges in later childhood. Also, specific early feeding challenges predicted the types of feeding challenges children would have later in childhood. For example, children who had difficulty transitioning to table foods and who continued to restrict their diet over time were more likely to have sensory-based feeding challenges. Results from this study show how feeding challenges present in a wide variety of ways for autistic children. The findings also highlight the importance of screening for feeding challenges in early childhood and collaborating with families to understand individualized feeding challenge experiences. These results could be used to inform evaluation and intervention for feeding.
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12. Sturm A, Huang S, Bal V, Schwartzman B. Psychometric exploration of the RAADS-R with autistic adults: Implications for research and clinical practice. Autism;2024 (Feb 2):13623613241228329.
Surveys used to screen for autism are being used much more by adults. Adults and clinicians want to be confident that the results from their surveys are accurate. If scores are not accurate, it is not possible to compare the scores of different groups of individuals. There are also concerns that these surveys do not accurately identify autistic individuals. This study explored the accuracy of two commonly used autism screening surveys for adults: the RAADS-R and the RAADS-14. The accuracy of these two screening tools was measured using a sample of 839 adults. Adults in the study were in one of the following categories: (1) diagnosed with autism, (2) adults who considered themselves to be autistic but had not been diagnosed, (3) adults who were unsure whether they were autistic, and (4) adults who did not consider themselves to be autistic and had not been diagnosed. The study found that the RAADS-R and the RAADS-14 are accurate. The study also found that a person’s age, gender, autism diagnosis, or whether an individual considered themselves to be autistic did not impact how they understood the survey. Survey accuracy could be improved by changing the number of question responses from four to two. Importantly, individuals with a clinical diagnosis of autism and those who considered themselves to be autistic responded to survey items in a very similar way. Individuals with autism diagnoses and those who were unsure whether they were autistic were more different in their responses. Four specific survey items related to sensory experiences and social interaction identified key differences between autistic and non-autistic adults.