Pubmed du 30/03/20

lundi 30 mars 2020

1. Colvin MA, Brennan L, Hogg K, Taylor H, Skinner K. More autism ? Audit of the diagnosis in Scottish children. Arch Dis Child. 2020.

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2. Fein D. Proposed brief diagnostic observational scale for autism spectrum disorder. Dev Med Child Neurol. 2020.

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3. Hendry A, Jones EJH, Bedford R, Andersson Konke L, Begum Ali J, Blte S, Brocki KC, Demurie E, Johnson M, Pijl MKJ, Roeyers H, Charman T. Atypical Development of Attentional Control Associates with Later Adaptive Functioning, Autism and ADHD Traits. J Autism Dev Disord. 2020.

Autism is frequently associated with difficulties with top-down attentional control, which impact on individuals’ mental health and quality of life. The developmental processes involved in these attentional difficulties are not well understood. Using a data-driven approach, 2 samples (N = 294 and 412) of infants at elevated and typical likelihood of autism were grouped according to profiles of parent report of attention at 10, 15 and 25 months. In contrast to the normative profile of increases in attentional control scores between infancy and toddlerhood, a minority (7-9%) showed plateauing attentional control scores between 10 and 25 months. Consistent with pre-registered hypotheses, plateaued growth of attentional control was associated with elevated autism and ADHD traits, and lower adaptive functioning at age 3 years.

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4. Khalili Alashti S, Fallahi J, Mohammadi S, Dehghanian F, Farbood Z, Masoudi M, Poorang S, Jokar A, Fardaei M. Two novel mutations in the MECP2 gene in patients with Rett syndrome. Gene. 2020 ; 732 : 144337.

Rett syndrome (RTT) is an X-linked severe neurological disorder. Mutations in Methyl-CpG-Binding Protein2 (MECP2) gene are the main cause of RTT disease. In this study, we report the results of screening the MECP2 gene for mutations in 7 Iranian patients with RTT syndrome. MECP2 sequencing identified two novel mutations in the heterozygous state, a splice mutation, c.354G>T, p.Gly119Gly, resulting in a premature splice-donor site and a 20-bp deletion, c.1167-1186del20 (p.P390Rfs), leading to modifying the c-terminal parts of the protein and it also changes the reading frames of all coding sequence downstream of the mutation. Multiple sequence alignment showed that amino acid changes occurred in the well conserved protein regions across species. Based on the results of this study and literature reviews, about 70% of mutations are found in exon 3 and 4 of the MECP2 gene, and mutations in exon 4 are more common than other exons. Therefore, it is recommended that exon 4 to be a priority for screening the genetic analysis of RTT patients.

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5. Moskowitz LJ, Will EA, Black CJ, Roberts JE. Restricted and Repetitive Behaviors in Males and Females with Fragile X Syndrome : Developmental Trajectories in Toddlers Through Young Adults. J Autism Dev Disord. 2020.

There is limited research on the trajectory of restricted and repetitive behaviors (RRBs) in fragile X syndrome (FXS), with previous studies only examining males and/or examining RRBs as a unitary construct rather than delineating subtypes of RRBs. Thus, we described the trajectory of five subtypes of RRBs in 153 males and females with FXS (aged 1-18 years) with repeated measurement over time (445 total assessments). Multilevel modeling was used to test age-related differences in RRB subtypes between males and females with FXS, controlling for nonverbal IQ. Results showed that lower-order Sensory-Motor behaviors decreased over time for both males and females, while there was no significant change in the higher-order RRBs. The trajectory between males and females differed for Self-Injury.

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6. Wieckowski AT, Luallin S, Pan Z, Righi G, Gabriels RL, Mazefsky C. Gender Differences in Emotion Dysregulation in an Autism Inpatient Psychiatric Sample. Autism Res. 2020.

There is a wide range of emotion regulation (ER)-related impairment observed in autism spectrum disorder (ASD), which is associated with both internalizing and externalizing problems. Although the importance of ER is widely acknowledged in the ASD literature, little is known about factors associated with variability in ER impairment. Given the identified gender differences in ASD, gender may be a potential contributor to ER. This study examined gender differences in ER in an ASD inpatient psychiatric sample (n = 722 ; 146 females) aged 4-20 years, collected as part of the Autism Inpatient Collection. In addition, the study investigated whether age, nonverbal intelligence quotient (NVIQ), or verbal ability moderate the association between ER and gender. While both male and female inpatients with ASD presented with clinically elevated emotion dysregulation compared to general population norms, results suggest that female psychiatric inpatients have more severe dysregulation, including higher reactivity and dysphoria, than inpatient males. NVIQ and verbal ability did not moderate the association between gender and ER. Age moderated the association between gender and ER, with greater gender difference seen in older individuals, but only for dysphoria. However, overall, these effects were small. Improved understanding of ER presentation in males and females with ASD is critical, as these symptoms may differentially impact individuals with ASD and may warrant a different treatment emphasis. LAY SUMMARY : Previous research has identified several gender differences in presentation of autism spectrum disorder (ASD) symptoms, as well as difficulties with emotion regulation in individuals with ASD. In order to better understand the factors that may contribute to emotion regulation in ASD, this study examined whether psychiatrically hospitalized males and females with ASD differed in emotion regulation and what factors influenced the differences. Results suggest that females with ASD have slightly but significantly more difficulty with emotion regulation compared to males.

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