- Joint attention in Down syndrome: A meta-analysis. [Review]
- RDRes Dev Disabil 2018 May 21; 78:89-102
- CONCLUSIONS: Joint attention appears to not be a weakness for children with DS, but may be commensurate with developmental level. Joint attention may be a relative strength in comparison to other skills associated with the DS behavioral phenotype. Early interventions for children with DS may benefit from leveraging joint attention skills.
- Emotion regulation in autism: Reappraisal and suppression interactions. [Journal Article]
- AAutism 2018 May 01; :1362361318774558
- Emotion regulation has been proposed to be a transdiagnostic factor in the development and maintenance of psychopathology in the general population, yet the nature of the relationships between emotio...
Emotion regulation has been proposed to be a transdiagnostic factor in the development and maintenance of psychopathology in the general population, yet the nature of the relationships between emotion regulation strategy use and psychological well-being has not been comprehensively explored in individuals with autism spectrum disorder (ASD). The aim of this study was to assess how the individual differences in self-reported emotion regulation strategy use relate to levels of both positive and negative psychological well-being. In total, 56 individuals with ASD aged 14-24 years (Mage = 18.15; SDage = 2.30) completed Emotion Regulation Questionnaire, Diagnostic and Statistical Manual of Mental Disorders-5 Generalized Anxiety Disorder Dimensional Scale, Patient Health Questionnaire-9, Warwick-Edinburgh Mental Well-being Scale and Autism-Spectrum Quotient - Short. Individuals were grouped into four clusters based on their Emotion Regulation Questionnaire subscale scores. Individuals in the high suppression and low reappraisal group expressed higher depressive symptoms and lower positive well-being when compared with the low suppression and high reappraisal group. Interestingly, individuals who self-reported using both high suppression and reappraisal expressed relatively high positive well-being and low depression symptoms. We suggest that the maladaptive effect of habitual suppression usage may be buffered by the habitual use of reappraisal, and this interaction between adaptive and maladaptive emotion regulation strategy use has clinical implications.
- 5-hydroxymethylcytosine alterations in the human postmortem brains of autism spectrum disorder. [Journal Article]
- HMHum Mol Genet 2018 May 22
- Autism spectrum disorders (ASD) include a group of syndromes characterized by impaired language, social, and communication skills, in addition to restrictive behaviors or stereotypes. However, with a...
Autism spectrum disorders (ASD) include a group of syndromes characterized by impaired language, social, and communication skills, in addition to restrictive behaviors or stereotypes. However, with a prevalence of 1.5% in developed countries and high comorbidity rates, no clear underlying mechanism that unifies the heterogeneous phenotypes of ASD exists. 5-hydroxymethylcytosine (5hmC) is highly enriched in the brain and recognized as an essential epigenetic mark in developmental and brain disorders. To explore the role of 5hmC in ASD, we used the genomic DNA isolated from the postmortem cerebellum of both ASD patients and age-matched controls to profile genome-wide distribution of 5hmC. We identified 797 age-dependent differentially hydroxymethylated regions (DhMRs) in the young group (age ≤ 18), while no significant DhMR was identified in the groups over 18 years of age. Pathway and disease association analyses demonstrated that the intragenic DhMRs were in the genes involved in cell-cell communication and neurological disorders. Also, we saw significant 5hmC changes in the larger group of psychiatric genes. Interestingly, we found that the predicted cis functions of non-coding intergenic DhMRs strikingly associate with ASD and intellectual disorders. A significant fraction of intergenic DhMRs overlapped with topologically associating domains (TAD). These results together suggest that 5hmC alteration is associated with ASD, particularly in the early development stage, and could contribute to the pathogenesis of ASD.
- Oral health challenges facing Dubai children with Autism Spectrum Disorder at home and in accessing oral health care. [Journal Article]
- EJEur J Paediatr Dent 2018; 19(2):127-133
- CONCLUSIONS: This study indicates that autistic children in Dubai experience more challenges and barriers to oral care than their typically developing healthy peers.
- Parenting stress and depressive symptoms in Taiwanese mothers of young children with autism spectrum disorder: Association with children's behavioural problems. [Journal Article]
- JAJ Appl Res Intellect Disabil 2018 May 23
- CONCLUSIONS: The findings indicated that one of the critical goals in early intervention for young children with ASD and their families is to reduce children's behavioural problems.
- Superior Visual Search and Crowding Abilities Are Not Characteristic of All Individuals on the Autism Spectrum. [Journal Article]
- JAJ Autism Dev Disord 2018 May 22
- Individuals with Autism Spectrum Disorder (ASD) often excel on visual search and crowding tasks; however, inconsistent findings suggest that this 'islet of ability' may not be characteristic of the e...
Individuals with Autism Spectrum Disorder (ASD) often excel on visual search and crowding tasks; however, inconsistent findings suggest that this 'islet of ability' may not be characteristic of the entire spectrum. We examined whether performance on these tasks changed as a function of motor proficiency in children with varying levels of ASD symptomology. Children with high ASD symptomology outperformed all others on complex visual search tasks, but only if their motor skills were rated at, or above, age expectations. For the visual crowding task, children with high ASD symptomology and superior motor skills exhibited enhanced target discrimination, whereas those with high ASD symptomology but poor motor skills experienced deficits. These findings may resolve some of the discrepancies in the literature.
- Patterns of peritraumatic threat perceptions in patients evaluated for suspected acute coronary syndrome according to prior and current posttraumatic stress symptoms. [Journal Article]
- GHGen Hosp Psychiatry 2018 May 09
- CONCLUSIONS: Assessing threat perceptions during ACS evaluation and hospitalization may help identify those at risk for emotional difficulties post-ACS.
- Role of pulmonary hemodynamics in determining 6-minute walk test result in atrial septal defect: an observational study. [Journal Article]
- JCJ Cardiothorac Surg 2018 May 22; 13(1):51
- CONCLUSIONS: Pulmonary hemodynamics can serve as an indicator of 6MWT result in adult ASD patients with values of mPAP> 24 mmHg and PVR > 3.42 WU.
- University life with ASD: Faculty knowledge and student needs. [Journal Article]
- AAutism 2018 May 01; :1362361318774148
- Increasingly, young adults with autism spectrum disorder are attending 4-year universities. The transition to adulthood can be challenging for these students, and university life poses its own set of...
Increasingly, young adults with autism spectrum disorder are attending 4-year universities. The transition to adulthood can be challenging for these students, and university life poses its own set of demands. The present article takes a mixed-methods approach by including two studies utilizing complementary methodologies. Through in-depth interviews with students with autism spectrum disorder ( n = 13) and college professors ( n = 18), the purpose of the first study was to evaluate the experiences and needs of college students with autism spectrum disorder and identify the knowledge that faculty members possessed about working with these students. Through survey methodology with a larger sample of faculty members ( n = 132), the purpose of the second study was to obtain more information about faculty knowledge of autism spectrum disorder, and to learn whether their pedagogical practices accommodated students with autism spectrum disorder. Findings revealed that autism is often an "invisible" disability on campuses, and there are many things that professors need to know with regard to working with these students in particular. Implications for practice are discussed.
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- Genetic variants in autism-related CNTNAP2 impair axonal growth of cortical neurons. [Journal Article]
- HMHum Mol Genet 2018 Jun 01; 27(11):1941-1954
- The CNTNAP2 gene, coding for the cell adhesion glycoprotein Caspr2, is thought to be one of the major susceptibility genes for autism spectrum disorder (ASD). A large number of rare heterozygous miss...
The CNTNAP2 gene, coding for the cell adhesion glycoprotein Caspr2, is thought to be one of the major susceptibility genes for autism spectrum disorder (ASD). A large number of rare heterozygous missense CNTNAP2 variants have been identified in ASD patients. However, most of them are inherited from an unaffected parent, questioning their clinical significance. In the present study, we evaluate their impact on neurodevelopmental functions of Caspr2 in a heterozygous genetic background. Performing cortical neuron cultures from mouse embryos, we demonstrate that Caspr2 plays a dose-dependent role in axon growth in vitro. Loss of one Cntnap2 allele is sufficient to elicit axonal growth alteration, revealing a situation that may be relevant for CNTNAP2 heterozygosity in ASD patients. Then, we show that the two ASD variants I869T and G731S, which present impaired binding to Contactin2/TAG-1, do not rescue axonal growth deficits. We find that the variant R1119H leading to protein trafficking defects and retention in the endoplasmic reticulum has a dominant-negative effect on heterozygous Cntnap2 cortical neuron axon growth, through oligomerization with wild-type Caspr2. Finally, we identify an additional variant (N407S) with a dominant-negative effect on axon growth although it is well-localized at the membrane and properly binds to Contactin2. Thus, our data identify a new neurodevelopmental function for Caspr2, the dysregulation of which may contribute to clinical manifestations of ASD, and provide evidence that CNTNAP2 heterozygous missense variants may contribute to pathogenicity in ASD, through selective mechanisms.