Pubmed du 04/07/22
1. Graves WW, Levinson H, Coulanges L, Cahalan S, Cruz D, Sancimino C, Bal VH, Rosenberg-Lee M. Neural differences in social and figurative language processing on the autism spectrum. Neuropsychologia;2022 (Jul 4);171:108240.
Individuals on the autism spectrum often have trouble with social and figurative language. As social language is often figurative, it can be challenging to disentangle the cognitive and neural sources of these difficulties. Neural systems for social cognition and language comprehension overlap in areas involved in retrieving linguistic meaning (semantics), such as the anterior temporal lobe (ATL), ventro-medial prefrontal cortex (vmPFC), posterior cingulate cortex (PCC), and posterior middle temporal gyrus (pMTG). Using adjective-noun phrases, we manipulated social/nonsocial and figurative/literal dimensions, which we expected to activate distinct but overlapping regions. We hypothesized that activation differences in the group with autism (AUT) would be greater for more social and figurative stimuli. During fMRI, participants in the AUT group (N = 19) and those in the non-autistic comparison (NAC) group (N = 22) made familiarity judgments to 192 phrases in a balanced 2 × 2 (social/nonsocial x figurative/literal) design. Social phrases activated the PCC in all participants, but only the NAC group activated the vmPFC. Figurative phrases were rated as more literal by the AUT group, with the figurative-literal phrase contrast showing no activation in the AUT group, but activating the PCC and right pMTG in the NAC group. The one significant group-level neural difference was for the social-figurative condition predicted to be most different between groups: greater activation for the AUT group in the right ATL. Differences in the right ATL and pMTG in the AUT group suggest altered engagement of right homologues of the canonical semantic network being recruited for processing combined social and figurative language.
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2. Kundu DK, Tabassum CR, Nandi ER. Sleep Disturbance in Children with Autism Spectrum Disorder: A Cross Sectional Study. Mymensingh Med J;2022 (Jul);31(3):758-766.
Sleep problems are commonly seen in children with Autism Spectrum Disorder (ASD). According to previous research, sensory problems and anxiety may be related to the development and maintenance of sleep problems in children with ASD. To determine pattern and severity sleep disturbance in children with autism spectrum disorder. This descriptive cross sectional study was done in Institute of Paediatric Neuro-disorder and Autism (IPNA) and Department of Paediatric Neurology, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh from October 2017 to September 2018. A total of 59 children aged 3 to 15 year who were diagnosed as ASD according to the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-V) were enrolled in this study. Sleep disturbances were recorded in the standard questionnaire. The mean age was 49.78±20.69 months and male to female ratio was almost 4:1. More than two third (69.2%) patients had sleep awakening in mild, 7(36.8%) in moderate autism spectrum disorder. The difference was statistically significant (p<0.05) among three groups. More than half (56.4%) patients had sleep starting 12 am to 2 am in mild, 3(15.8%) in moderate autism spectrum disorder. The difference was statistically significant (p<0.05) among three groups. Sleep awakening and sleep starting time were significantly associated with autism spectrum disorder.
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3. Miceli F, Millevert C, Soldovieri MV, Mosca I, Ambrosino P, Carotenuto L, Schrader D, Lee HK, Riviello J, Hong W, Risen S, Emrick L, Amin H, Ville D, Edery P, de Bellescize J, Michaud V, Van-Gils J, Goizet C, Willemsen MH, Kleefstra T, Møller RS, Bayat A, Devinsky O, Sands T, Korenke GC, Kluger G, Mefford HC, Brilstra E, Lesca G, Milh M, Cooper EC, Taglialatela M, Weckhuysen S. KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism. EBioMedicine;2022 (Jun 30);81:104130.
BACKGROUND: Prior studies have revealed remarkable phenotypic heterogeneity in KCNQ2-related disorders, correlated with effects on biophysical features of heterologously expressed channels. Here, we assessed phenotypes and functional properties associated with KCNQ2 missense variants R144W, R144Q, and R144G. We also explored in vitro blockade of channels carrying R144Q mutant subunits by amitriptyline. METHODS: Patients were identified using the RIKEE database and through clinical collaborators. Phenotypes were collected by a standardized questionnaire. Functional and pharmacological properties of variant subunits were analyzed by whole-cell patch-clamp recordings. FINDINGS: Detailed clinical information on fifteen patients (14 novel and 1 previously published) was analyzed. All patients had developmental delay with prominent language impairment. R144Q patients were more severely affected than R144W patients. Infantile to childhood onset epilepsy occurred in 40%, while 67% of sleep-EEGs showed sleep-activated epileptiform activity. Ten patients (67%) showed autistic features. Activation gating of homomeric Kv7.2 R144W/Q/G channels was left-shifted, suggesting gain-of-function effects. Amitriptyline blocked channels containing Kv7.2 and Kv7.2 R144Q subunits. INTERPRETATION: Patients carrying KCNQ2 R144 gain-of-function variants have developmental delay with prominent language impairment, autistic features, often accompanied by infantile- to childhood-onset epilepsy and EEG sleep-activated epileptiform activity. The absence of neonatal seizures is a robust and important clinical differentiator between KCNQ2 gain-of-function and loss-of-function variants. The Kv7.2/7.3 channel blocker amitriptyline might represent a targeted treatment. FUNDING: Supported by FWO, GSKE, KCNQ2-Cure, Jack Pribaz Foundation, European Joint Programme on Rare Disease 2020, the Italian Ministry for University and Research, the Italian Ministry of Health, the European Commission, the University of Antwerp, NINDS, and Chalk Family Foundation.
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4. Susanin A, Cooper M, Makara A, Kuschner ES, Timko CA. Autistic characteristics in youth with anorexia nervosa before and after treatment. Eur Eat Disord Rev;2022 (Jul 3)
OBJECTIVE: Cognitive characteristics common to autistic individuals are often seen in adults with anorexia nervosa (AN), raising the question of whether autistic people and people with AN may share an endophenotype. We need to examine autistic characteristics during the early stages of AN to accurately parse true symptom co-occurrence from behavioural alterations due to prolonged illness. METHODS: We conducted a post-hoc analysis examining autistic characteristics in 59 youth with AN. Adolescents and parents participating in a randomised-clinical trial for AN completed questionnaires probing autistic characteristics at baseline and treatment end. We categorised participants as above or below cut-offs of clinical indicators of autism using the Autism Probability Index (API) and the Autism Spectrum Quotient-10. RESULTS: Rates of high autistic characteristics ranged between 0% and 36% depending on the instrument used and how the data was obtained (i.e., by informant report or self-report). Paternal report of autistic characteristics differed across treatment completers versus non completers and maternal report indicated lower weight gain for those with elevated characteristics. CONCLUSIONS: Low rates of autism and fluctuations in autistic features during treatment underscore the importance of longitudinal examinations of autistic characteristics in adolescents with AN. Future studies need to replicate findings in a larger adolescent sample. TRIAL REGISTRATION: ClinicalTrails.gov Identifier NCT03928028.
