On the Nature of Monozygotic Twin Concordance and Discordance for Autistic Trait Severity: A Quantitative Analysis

Castelbaum, Lauren; Sylvester, Chad M.; Zhang, Yi; Yu, Qiongru; Constantino, John N.

doi:10.1007/s10519-019-09987-2

Cited by 74 publications

(54 citation statements)

References 44 publications

(59 reference statements)

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“…This may be reflective of a limitation of the ADI-R to index quantitative ASD traits, though crossinstrument correlations between proband SCQ and sibling ADOS scores were also weak and non-significant. Alternatively, it may indicate that ASD symptomology is influenced by non-shared environmental factors [8], as has been recently suggested by a study of twins phenotyped using the SRS [36] where twin-twin differences in SRS scores were notably greater above the diagnostic threshold for ASD. Finally, while it did not survive the correction for multiple comparisons, we did observe a Standardized beta coefficients from linear regression models.…”

Section: Discussionmentioning

confidence: 93%

Quantitative trait variation in ASD probands and toddler sibling outcomes at 24 months

Girault

Swanson

Meera

et al. 2020

J Neurodevelop Disord

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Background: Younger siblings of children with autism spectrum disorder (ASD) are at increased likelihood of receiving an ASD diagnosis and exhibiting other developmental concerns. It is unknown how quantitative variation in ASD traits and broader developmental domains in older siblings with ASD (probands) may inform outcomes in their younger siblings. Methods: Participants included 385 pairs of toddler siblings and probands from the Infant Brain Imaging Study. ASD probands (mean age 5.5 years, range 1.7 to 15.5 years) were phenotyped using the Autism Diagnostic Interview-Revised (ADI-R), the Social Communication Questionnaire (SCQ), and the Vineland Adaptive Behavior Scales, Second Edition (VABS-II). Siblings were assessed using the ADI-R, VABS-II, Mullen Scales of Early Learning (MSEL), and Autism Diagnostic Observation Schedule (ADOS) and received a clinical best estimate diagnosis at 24 months using DSM-IV-TR criteria (n = 89 concordant for ASD; n = 296 discordant). We addressed two aims: (1) to determine whether proband characteristics are predictive of recurrence in siblings and (2) to assess associations between proband traits and sibling dimensional outcomes at 24 months. Results: Regarding recurrence risk, proband SCQ scores were found to significantly predict sibling 24-month diagnostic outcome (OR for a 1-point increase in SCQ = 1.06; 95% CI = 1.01, 1.12). Regarding quantitative trait associations, we found no significant correlations in ASD traits among proband-sibling pairs. However, quantitative variation in proband adaptive behavior, communication, and expressive and receptive language was significantly associated with sibling outcomes in the same domains; proband scores explained 9-18% of the variation in cognition and behavior in siblings with ASD. Receptive language was particularly strongly associated in concordant pairs (ICC = 0.50, p < 0.001). Conclusions: Proband ASD symptomology, indexed by the SCQ, is a predictor of familial ASD recurrence risk. While quantitative variation in social communication and restricted and repetitive behavior were not associated among sibling pairs, standardized ratings of proband language and communication explained significant variation in the same domains in the sibling at 24 months, especially among toddlers with an ASD diagnosis. These data suggest that proband characteristics can alert clinicians to areas of developmental concern for young children with familial risk for ASD.

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Section: Discussionmentioning

confidence: 93%

Quantitative trait variation in ASD probands and toddler sibling outcomes at 24 months

Girault

Swanson

Meera

et al. 2020

J Neurodevelop Disord

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“…This situation is even more striking in ASD research. In a recent study focused on monozygotic twin concordance and discordance for autistic trait severity, while probandwise concordance for ASD was an extremely high .96, the concordance rate for variation-in-severity of symptomatology had an R 2 on the order of .1, indicating that profile and level of disability in identical twins with ASD is substantially influenced by nonshared environmental factors; this is an intriguing finding raising the possibility for novel targets of early ASD amelioration but as yet unknown (Castelbaum, Sylvester, Zhang, Yu, & Constantino, 2019).…”

Section: Caveatsmentioning

confidence: 98%

Affording autism an early brain development re-definition

et al. 2020

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The national priority to advance early detection and intervention for children with autism spectrum disorder (ASD) has not reduced the late age of ASD diagnosis in the US over several consecutive Centers for Disease Control and Prevention (CDC) surveillance cohorts, with traditionally under-served populations accessing diagnosis later still. In this review, we explore a potential perceptual barrier to this enterprise which views ASD in terms that are contradicted by current science, and which may have its origins in the current definition of the condition and in its historical associations. To address this perceptual barrier, we propose a re-definition of ASD in early brain development terms, with a view to revisit the world of opportunities afforded by current science to optimize children's outcomes despite the risks that they are born with. This view is presented here to counter outdated notions that potentially devastating disability is determined the moment a child is born, and that these burdens are inevitable, with opportunities for improvement being constrained to only alleviation of symptoms or limited improvements in adaptive skills. The impetus for this piece is the concern that such views of complex neurodevelopmental conditions, such as ASD, can become self-fulfilling science and policy, in ways that are diametrically opposed to what we currently know, and are learning every day, of how genetic risk becomes, or not, instantiated as lifetime disabilities.

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“…23 Large scale whole genome analyses have identified additional susceptibility genes and processes involved in host defence and immune adaptive mechanisms that can contribute to ASD in the presence of specific environmental factors. [24][25][26][27][28] Individuals with ASD have a significantly higher prevalence of comorbid mental and physical health conditions compared to the general population. [29][30][31][32][33] Such comorbidities span a whole range of different conditions affecting various systems of the body including immune conditions, gastrointestinal (GI) disorders, metabolic conditions and seizure disorders.…”

Section: Introductionmentioning

confidence: 99%

<p>Bridging the Gap Between Physical Health and Autism Spectrum Disorder</p>

Sala¹,

Amet²,

Blagojevic-Stokic³

et al. 2020

NDT

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Autism spectrum disorder (ASD) is a highly complex and heterogeneous developmental disorder that affects how individuals communicate with other people and relate to the world around them. Research and clinical focus on the behavioural and cognitive manifestations of ASD, whilst important, have obscured the recognition that ASD is also commonly associated with a range of physical and mental health conditions. Many physical conditions appear with greater frequency in individuals with ASD compared to non-ASD populations. These can contribute to a worsening of social communication and behaviour, lower quality of life, higher morbidity and premature mortality. We highlight some of the key physical comorbidities affecting the immune and the gastrointestinal systems, metabolism and brain function in ASD. We discuss how healthcare professionals working with individuals with ASD and parents/carers have a duty to recognise their needs in order to improve their overall health and wellbeing, deliver equality in their healthcare experiences and reduce the likelihood of morbidity and early mortality associated with the condition.

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On the Nature of Monozygotic Twin Concordance and Discordance for Autistic Trait Severity: A Quantitative Analysis

Cited by 74 publications

References 44 publications

Quantitative trait variation in ASD probands and toddler sibling outcomes at 24 months

Quantitative trait variation in ASD probands and toddler sibling outcomes at 24 months

Affording autism an early brain development re-definition

<p>Bridging the Gap Between Physical Health and Autism Spectrum Disorder</p>

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