scholarly journals Contrasting age related changes in autism spectrum disorder phenomenology in Cornelia de Lange, Fragile X, and Cri du Chat syndromes: Results from a 2.5 year follow‐up

2015 ◽  
Vol 169 (2) ◽  
pp. 188-197 ◽  
Author(s):  
Lisa Cochran ◽  
Joanna Moss ◽  
Lisa Nelson ◽  
Chris Oliver
Keyword(s):  
Autism Spectrum Disorder ◽  
Fragile X ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Age Related ◽  
Cornelia De Lange ◽  
Age Related Changes

scholarly journals Atypical age-related changes in cortical thickness in autism spectrum disorder

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Adonay S. Nunes ◽  
Vasily A. Vakorin ◽  
Nataliia Kozhemiako ◽  
Nicholas Peatfield ◽  
Urs Ribary ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Cortical Thickness ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Age Related ◽  
Age Related Changes

scholarly journals Age-Related Changes in the Anatomy of Language Regions in Autism Spectrum Disorder

2008 ◽  
Vol 3 (1) ◽  
pp. 51-63 ◽  
Author(s):  
Tracey A. Knaus ◽  
Andrew M. Silver ◽  
Kelli C. Dominick ◽  
Melanee D. Schuring ◽  
Nancy Shaffer ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Age Related ◽  
Age Related Changes

Delineating the Profile of Autism Spectrum Disorder Characteristics in Cornelia de Lange and Fragile X Syndromes

2013 ◽  
Vol 118 (1) ◽  
pp. 55-73 ◽  
Author(s):  
Joanna Moss ◽  
Chris Oliver ◽  
Lisa Nelson ◽  
Caroline Richards ◽  
Scott Hall
Keyword(s):  
Autism Spectrum Disorder ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Cornelia De Lange Syndrome ◽  
Genetic Syndromes ◽  
The Social ◽  
Cornelia De Lange ◽  
Atypical Autism

Abstract An atypical presentation of autism spectrum disorder is noted in Cornelia de Lange and Fragile X syndromes, but there are few detailed empirical descriptions. Participants in this study were individuals with Cornelia de Lange syndrome (n  =  130, M age  =  17.19), Fragile X syndrome (n  =  182, M age  =  16.94), and autism spectrum disorder (n  =  142, M age  =  15.19), who were comparable on chronological age. Using the Social Communication Questionnaire, the proportion meeting cutoff for autism spectrum disorder and autism was 78.6%, and 45.6%, respectively, in Cornelia de Lange syndrome and 83.6% and 48.6% in Fragile X syndrome. Domain and item analyses indicate differing, atypical autism spectrum disorder profiles in Fragile X and Cornelia de Lange syndromes. A limited association between adaptive behavior and autism spectrum disorder was identified in all groups. The findings have implications for intervention in genetic syndromes and conceptualization of autism spectrum disorder in the wider population.

A Comparative Study of Sociability in Angelman, Cornelia de Lange, Fragile X, Down and Rubinstein Taybi Syndromes and Autism Spectrum Disorder

2016 ◽  
Vol 121 (6) ◽  
pp. 465-486 ◽  
Author(s):  
Joanna Moss ◽  
Lisa Nelson ◽  
Laurie Powis ◽  
Jane Waite ◽  
Caroline Richards ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Down Syndrome ◽  
Intellectual Disability ◽  
Fragile X Syndrome ◽  
Neurodevelopmental Disorders ◽  
Fragile X ◽  
Selective Mutism ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Cornelia De Lange

Abstract Few comparative studies have evaluated the heterogeneity of sociability across a range of neurodevelopmental disorders. The Sociability Questionnaire for People with Intellectual Disability (SQID) was completed by caregivers of individuals with Cornelia de Lange (n = 98), Angelman (n = 66), Fragile X (n = 142), Down (n = 117) and Rubinstein Taybi (n = 88) syndromes and autism spectrum disorder (ASD; n = 107). Between groups and age-band (<12yrs; 12–18yrs; >18yrs) comparisons of SQID scores were conducted. Rates of behaviors indicative of selective mutism were also examined. Fragile X syndrome achieved the lowest SQID scores. Cornelia de Lange, ASD, and Fragile X groups scored significantly lower than Angelman, Down and Rubinstein Taybi groups. Selective mutism characteristics were highest in Cornelia de Lange (40%) followed by Fragile X (17.8%) and ASD (18.2%). Age-band differences were identified in Cornelia de Lange and Down syndrome.

scholarly journals Atypical developmental features of cortical thickness trajectories in Autism Spectrum Disorder

2019 ◽  
Author(s):  
Adonay S Nunes ◽  
Vasily A Vakorin ◽  
Nataliia Kozhemiako ◽  
Nicholas Peatfield ◽  
Urs Ribary ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Cortical Thickness ◽  
Developmental Trajectories ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Quadratic Model ◽  
Group Differences ◽  
Age Related ◽  
Developmental Features ◽  
Age Related Changes

AbstractNeuroimaging studies have reported numerous region-specific atypicalities in the brains of individuals with Autism Spectrum Disorder (ASD), including alterations in cortical thickness (CT). However, there are many inconsistent findings, and this is probably due to atypical CT developmental trajectories in ASD. To this end, we investigated group differences in terms of shapes of developmental trajectories of CT between ASD and typically developing (TD) populations.Using the Autism Brain Imaging Data Exchange (ABIDE) repository (releases I and II combined), we investigated atypical shapes of developmental trajectories in ASD using a linear, quadratic and cubic models at various scales of spatial coarseness, and their association with symptomatology using the Autism Diagnostic Observation Schedule (ADOS) scores. These parameters were also used to predict ASD and TD CT development.While no overall group differences in CT was observed across the entire age range, ASD and TD populations were different in terms of age-related changes. Developmental trajectories of CT in ASD were mostly characterized by decreased cortical thinning during early adolescence and increased thinning at later stages, involving mostly frontal and parietal areas. Such changes were associated with ADOS scores. The curvature of the trajectories estimated from the quadratic model was the most accurate and sensitive measure for detecting ASD. Our findings suggest that under the context of longitudinal changes in brain morphology, robust detection of ASD would require three time points to estimate the curvature of age-related changes.

scholarly journals Early differences in auditory processing relate to Autism Spectrum Disorder traits in infants with Neurofibromatosis Type I

2021 ◽  
Vol 13 (1) ◽  
Author(s):  
Jannath Begum-Ali ◽  
◽  
Anna Kolesnik-Taylor ◽  
Isabel Quiroz ◽  
Luke Mason ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Auditory Processing ◽  
Neurofibromatosis Type ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Type I ◽  
Sensory Reactivity ◽  
Auditory Responses ◽  
Repetition Suppression ◽  
Age Related

Abstract Background Sensory modulation difficulties are common in children with conditions such as Autism Spectrum Disorder (ASD) and could contribute to other social and non-social symptoms. Positing a causal role for sensory processing differences requires observing atypical sensory reactivity prior to the emergence of other symptoms, which can be achieved through prospective studies. Methods In this longitudinal study, we examined auditory repetition suppression and change detection at 5 and 10 months in infants with and without Neurofibromatosis Type 1 (NF1), a condition associated with higher likelihood of developing ASD. Results In typically developing infants, suppression to vowel repetition and enhanced responses to vowel/pitch change decreased with age over posterior regions, becoming more frontally specific; age-related change was diminished in the NF1 group. Whilst both groups detected changes in vowel and pitch, the NF1 group were largely slower to show a differentiated neural response. Auditory responses did not relate to later language, but were related to later ASD traits. Conclusions These findings represent the first demonstration of atypical brain responses to sounds in infants with NF1 and suggest they may relate to the likelihood of later ASD.

scholarly journals Local Protein Translation and RNA Processing of Synaptic Proteins in Autism Spectrum Disorder

2021 ◽  
Vol 22 (6) ◽  
pp. 2811
Author(s):  
Yuyoung Joo ◽  
David R. Benavides
Keyword(s):  
Autism Spectrum Disorder ◽  
Fragile X ◽  
Single Gene ◽  
Protein Translation ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Spectrum Disorder ◽  
Synaptic Proteins ◽  
Local Translation ◽  
Translation Control

Autism spectrum disorder (ASD) is a heritable neurodevelopmental condition associated with impairments in social interaction, communication and repetitive behaviors. While the underlying disease mechanisms remain to be fully elucidated, dysfunction of neuronal plasticity and local translation control have emerged as key points of interest. Translation of mRNAs for critical synaptic proteins are negatively regulated by Fragile X mental retardation protein (FMRP), which is lost in the most common single-gene disorder associated with ASD. Numerous studies have shown that mRNA transport, RNA metabolism, and translation of synaptic proteins are important for neuronal health, synaptic plasticity, and learning and memory. Accordingly, dysfunction of these mechanisms may contribute to the abnormal brain function observed in individuals with autism spectrum disorder (ASD). In this review, we summarize recent studies about local translation and mRNA processing of synaptic proteins and discuss how perturbations of these processes may be related to the pathophysiology of ASD.

Mental health correlates and potential childhood predictors for the wish to be of the opposite sex in young autistic adults

Autism ◽  
2021 ◽  
pp. 136236132110240
Author(s):  
Jung-Chi Chang ◽  
Meng-Chuan Lai ◽  
Yueh-Ming Tai ◽  
Susan Shur-Fen Gau
Keyword(s):  
Mental Health ◽  
Autism Spectrum Disorder ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Typically Developing ◽  
Item Endorsement ◽  
Opposite Sex ◽  
Autistic Adults

Cross-sectional research has demonstrated the overrepresentation of gender dysphoria in children and adults with autism spectrum disorder. However, the predictors and underlying mechanisms of this co-occurrence remain unclear. This follow-up study aimed to explore baseline (childhood/adolescence) predictors for the follow-up (adulthood) self-reported wish to be of the opposite sex and to investigate its mental health correlates in a sample of 88 autistic individuals as compared with 42 typically developing controls. An item on the Adult Self-Report Inventory-4, “I wish I was the opposite sex,” was used. We compared mental health symptoms between adults with and without this item endorsement. We used prediction models to explore family and autism-related predictors in childhood/adolescence to endorse this item in adulthood. There were more adults endorsing the item in the autism spectrum disorder group compared with the typically developing group. Autistic adults who endorsed the item experienced more mental health challenges, more bullying victimization, more suicidal ideations, and worse quality of life. Lower parent-reported family support and more stereotyped/repetitive behaviors during childhood/adolescence predicted the self-reported wish to be of the opposite sex in adulthood in autistic individuals. It is necessary to raise more attention to gender development and related mental health impact in autistic individuals. Lay abstract Autistic people/people with autism spectrum disorder are more likely to experience gender dysphoria. However, the possible longitudinal predictors and underlying mechanisms of this co-occurrence are unclear. To fill this knowledge gap, we assessed 88 people with autism spectrum disorder and 42 typically developing individuals at their average ages of 13.0 (baseline, childhood/adolescence) and 20.2 years old (follow-up, adulthood). At follow-up, their endorsement on the item “I wish I was the opposite sex” was used to evaluate gender dysphoric symptoms. We compared mental health symptoms between adults with and without this item endorsement at the follow-up assessment. We explored parent-reported family and autism characteristics-related predictors in childhood/adolescence to this item endorsement in adulthood. We found that more autistic adults reported the wish to be of the opposite sex than did typically developing individuals. Autistic adults who endorsed this item experienced more mental health challenges, more school bullying and cyberbullying, more suicidal ideation, and worse quality of life. Moreover, parent-reported lower family support and more stereotyped/repetitive behaviors during childhood/adolescence predicted the self-reported wish to be of the opposite sex in adulthood in autistic individuals. More attention and support should be provided to autistic people regarding gender development and related mental health and quality of life impact, especially during the transition period to young adulthood.

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