scholarly journals Atypical genomic cortical patterning in autism with poor early language outcome

2021 ◽  
Vol 7 (36) ◽  
Author(s):  
Michael V. Lombardo ◽  
Lisa Eyler ◽  
Tiziano Pramparo ◽  
Vahid H. Gazestani ◽  
Donald J. Hagler ◽  
...  
Author(s):  
Michael V. Lombardo ◽  
Lisa Eyler ◽  
Tiziano Pramparo ◽  
Vahid H. Gazestani ◽  
Donald J. Hagler ◽  
...  

AbstractCortical regional identities develop through anterior-posterior (A-P) and dorsal-ventral (D-V) prenatal genomic patterning gradients. Here we find that A-P and D-V genomic patterning of cortical surface area (SA) and thickness (CT) is intact in typically developing and autistic toddlers with good language outcome, but is absent in autistic toddlers with poor early language outcome. Genes driving this effect are prominent in midgestational A-P and D-V gene expression gradients and prenatal cell types driving SA and CT variation (e.g., progenitor cells versus excitatory neurons). These genes are also important for vocal learning, human-specific evolution, and prenatal co-expression networks enriched for high-penetrance autism risk genes. Autism with poor early language outcome may be linked to atypical genomic cortical patterning starting in prenatal periods and which impacts later development of regional functional specialization and circuit formation.One Sentence SummaryGenomic patterning of the cortex is atypical in autistic toddlers with poor early language outcome.


2021 ◽  
Vol 12 (1) ◽  
Author(s):  
David Gagnon ◽  
Abderrahim Zeribi ◽  
Élise Douard ◽  
Valérie Courchesne ◽  
Borja Rodríguez-Herreros ◽  
...  

Abstract Background Language delay is one of the major referral criteria for an autism evaluation. Once an autism spectrum diagnosis is established, the language prognosis is among the main parental concerns. Early language regression (ELR) is observed by 10–50% of parents but its relevance to late language level and socio-communicative ability is uncertain. This study aimed to establish the predictive value of ELR on the progression of language development and socio-communicative outcomes to guide clinicians in addressing parents’ concerns at the time of diagnosis. Methods We used socio-communicative, language, and cognitive data of 2,047 autism spectrum participants from the Simons Simplex Collection, aged 4–18 years (mean = 9 years; SD = 3.6). Cox proportional hazard and logistic regression models were used to evaluate the effect of ELR on language milestones and the probability of using complex and flexible language, as defined by the choice of ADOS module at enrollment. Linear models were then used to evaluate the relationship of ELR and non-verbal IQ with socio-communicative and language levels. Results ELR is associated with earlier language milestones but delayed attainment of fluent, complex, and flexible language. However, this language outcome can be expected for almost all autistic children without intellectual disability at 18 years of age. It is mostly influenced by non-verbal IQ, not ELR. The language and socio-communicative level of participants with flexible language, as measured by the Vineland and ADOS socio-communicative subscales, was not affected by ELR. Limitations This study is based on a relatively coarse measure of ultimate language level and relies on retrospective reporting of early language milestones and ELR. It does not prospectively document the age at which language catches up, the relationship between ELR and other behavioral areas of regression, nor the effects of intervention. Conclusions For autistic individuals with ELR and a normal level of non-verbal intelligence, language development follows a “bayonet shape” trajectory: early first words followed by regression, a plateau with limited progress, and then language catch up.


2018 ◽  
Vol 21 (12) ◽  
pp. 1680-1688 ◽  
Author(s):  
Michael V. Lombardo ◽  
Tiziano Pramparo ◽  
Vahid Gazestani ◽  
Varun Warrier ◽  
Richard A. I. Bethlehem ◽  
...  

ASHA Leader ◽  
2013 ◽  
Vol 18 (2) ◽  
pp. 32-32
Author(s):  
Heidi Hanks

Leave your flashcards at home and try these five apps for early language learning.


ASHA Leader ◽  
2013 ◽  
Vol 18 (7) ◽  
pp. 16-17
Author(s):  
Julie Wolter

Julie Wolter, an expert in early language development, recently led an online chat about the contribution of morphological awareness to semantic understanding and literacy development. Here's what the Leader overheard ...


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