The DOI matches its Crossref record; 59 of the 59 references it cites were found in a registry or an index; none of the 44 sources its claims cite is checked for support yet.
Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample
Open accessAbstract
IMPORTANCE: Most evidence to date highlights the importance of genetic influences on the liability to autism and related traits. However, most of these findings are derived from clinically ascertained samples, possibly missing individuals with subtler manifestations, and obtained estimates may not be representative of the population. OBJECTIVES: To establish the relative contributions of genetic and environmental factors in liability to autism spectrum disorder (ASD) and a broader autism phenotype in a large population-based twin sample and to ascertain the genetic/environmental relationship between dimensional trait measures and categorical diagnostic constructs of ASD. DESIGN, SETTING, AND PARTICIPANTS: We used data from the population-based cohort Twins Early Development Study, which included all twin pairs born in England and Wales from January 1, 1994, through December 31, 1996. We performed joint continuous-ordinal liability threshold model fitting using the full information maximum likelihood method to estimate genetic and environmental parameters of covariance. Twin pairs underwent the following assessments: the Childhood Autism Spectrum Test (CAST) (6423 pairs; mean age, 7.9 years), the Development and Well-being Assessment (DAWBA) (359 pairs; mean age, 10.3 years), the Autism Diagnostic Observation Schedule (ADOS) (203 pairs; mean age, 13.2 years), the Autism Diagnostic Interview-Revised (ADI-R) (205 pairs; mean age, 13.2 years), and a best-estimate diagnosis (207 pairs). MAIN OUTCOMES AND MEASURES: Participants underwent screening using a population-based measure of autistic traits (CAST assessment), structured diagnostic assessments (DAWBA, ADI-R, and ADOS), and a best-estimate diagnosis. RESULTS: On all ASD measures, correlations among monozygotic twins (range, 0.77-0.99) were significantly higher than those for dizygotic twins (range, 0.22-0.65), giving heritability estimates of 56% to 95%. The covariance of CAST and ASD diagnostic status (DAWBA, ADOS and best-estimate diagnosis) was largely explained by additive genetic factors (76%-95%). For the ADI-R only, shared environmental influences were significant (30% [95% CI, 8%-47%]) but smaller than genetic influences (56% [95% CI, 37%-82%]). CONCLUSIONS AND RELEVANCE: The liability to ASD and a more broadly defined high-level autism trait phenotype in this large population-based twin sample derives primarily from additive genetic and, to a lesser extent, nonshared environmental effects. The largely consistent results across different diagnostic tools suggest that the results are generalizable across multiple measures and assessment methods. Genetic factors underpinning individual differences in autismlike traits show considerable overlap with genetic influences on diagnosed ASD.
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A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“We found moderate κ agreement for DAWBA and the ADOS assessment (0.58) and substantial agreement for DAWBA and the ADI-R assessment and for DAWBA and BeD (both 0.72), for the ADI-R and ADOS assessments (0.67), and for the ADOS assessment and BeD (0.79). Agreement for the ADI-R assessment and BeD was almost perfect (0.91).”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Results > Diagnostic Agreement
Strength:plain· not yet calibratedCausal:correlational· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesA result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Genetic influences were significant for all clinical measures with the highest heritability reported for BeD (95% [95% CI, 74%-98%]) and shared environments significantly explaining the variance of the ADI-R assessment only (30% [95% CI, 8%-47%]).”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Results > Bivariate Genetic Model
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passes- The authors state this as an assumption: The liability to ASD and a broader autism phenotype follows a continuous distribution.
- The authors state this as an assumption: CAST scores and the three ASD diagnostic categories follow a joint multivariate normal distribution.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“The genetic correlations, that is, the extent to which the same genetic factors influence the CAST score and clinical measures independent of their heritabilities, are substantial (0.52-0.89).”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Results > Bivariate Genetic Model
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passes- The authors state this as an assumption: The liability to ASD and a broader autism phenotype follows a continuous distribution.
- The authors state this as an assumption: CAST scores and the three ASD diagnostic categories follow a joint multivariate normal distribution.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“In our study, only the ADI-R parent-reported developmental history measure showed significant shared environment effects.”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Discussion
Load-bearingStrength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesA result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“The covariance of CAST and ASD diagnostic status (DAWBA, ADOS and best-estimate diagnosis) was largely explained by additive genetic factors (76%-95%).”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Abstract > RESULTS
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesA result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“On all ASD measures, correlations among monozygotic twins (range, 0.77-0.99) were significantly higher than those for dizygotic twins (range, 0.22-0.65), giving heritability estimates of 56% to 95%.”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Abstract > RESULTS
Load-bearingStrength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesA result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“On all ASD measures, correlations among monozygotic twins (range, 0.77-0.99) were significantly higher than those for dizygotic twins (range, 0.22-0.65), giving heritability estimates of 56% to 95%.”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Abstract > RESULTS
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesA conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“This contribution is not the case for DAWBA, for which the DZ correlation is less than half that of the MZ pairs, pointing to nonadditive genetic effects.”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Results > Twin Correlations
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesA conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“The high MZ (0.62-0.94) and low DZ (0.05-0.61) concordances suggest substantial genetic influence.”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Results > Probandwise Concordance Rates
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesA conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“The findings indicate strong and overlapping genetic influences on dimensional and categorical measures.”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Results > Bivariate Genetic Model
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passes
- It may state two separate claims as one. 27
- Probably not a substantial claim. 14
- The quote only partly states this claim. 1
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“For example, MZ concordances are 0.87 for ASD and 0.94 for BeD, in contrast to 0.22 and 0.46, respectively, for DZ concordances.”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Results > Probandwise Concordance Rates
Load-bearingStrength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Genetic influences were significant for all clinical measures with the highest heritability reported for BeD (95% [95% CI, 74%-98%]) and shared environments significantly explaining the variance of the ADI-R assessment only (30% [95% CI, 8%-47%]).”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Results > Bivariate Genetic Model
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
- The authors state this as an assumption: The liability to ASD and a broader autism phenotype follows a continuous distribution.
- The authors state this as an assumption: CAST scores and the three ASD diagnostic categories follow a joint multivariate normal distribution.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“The remainder of the covariance was explained by non-shared environmental factors (rph_E), although nonsignificant for the overlap between the CAST score and the ADI-R or the ADOS assessment.”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Results > Bivariate Genetic Model
Strength:plain· not yet calibratedCausal:correlational· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
- The authors state this as an assumption: The liability to ASD and a broader autism phenotype follows a continuous distribution.
- The authors state this as an assumption: CAST scores and the three ASD diagnostic categories follow a joint multivariate normal distribution.
In the paper
“Variance in the CAST score (age and sex regressed) resulted from genetic influences (78% [95% CI, 77%-79%]) and nonshared environmental effects (22% [95% CI, 21%-23%]), as reported previously.30”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Results > Bivariate Genetic Model
What the sources say
- Not checked yetcites [30] Ronald A Happé F Bolton P Genetic heterogeneity between the three components of the autism spectrum: a twin study J Am Acad Child Adolesc Psychiatry 2006 45 6 691 699 16721319
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
- The authors state this as an assumption: The liability to ASD and a broader autism phenotype follows a continuous distribution.
- The authors state this as an assumption: CAST scores and the three ASD diagnostic categories follow a joint multivariate normal distribution.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“The phenotypic correlations were moderate to high (0.52-0.65), and genetic factors accounted for 77% to 100% of the covariance.”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Results > Bivariate Genetic Model
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
- The authors state this as an assumption: The liability to ASD and a broader autism phenotype follows a continuous distribution.
- The authors state this as an assumption: CAST scores and the three ASD diagnostic categories follow a joint multivariate normal distribution.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“The high MZ (0.62-0.94) and low DZ (0.05-0.61) concordances suggest substantial genetic influence.”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Results > Probandwise Concordance Rates
Load-bearingStrength:hedged· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“For the ADI-R only, shared environmental influences were significant (30% [95% CI, 8%-47%]) but smaller than genetic influences (56% [95% CI, 37%-82%]).”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Abstract > RESULTS
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Indeed, the relationship between the CAST score and diagnostic assessments indicated a substantial genetic correlation and a significant correlation in the nonshared environmental factors that influence variations in both traits.”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Discussion
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
None of the sources cited for this claim have been checked yet.
In the paper
“Twin and family studies21,22 have also shown that the genetic liability to autism confers a risk for a broader range of impairments in social communication, restricted and repetitive behaviors, and behaviors that extend beyond the traditional diagnostic boundaries for autism.9,23,24”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Abstract > CONCLUSIONS AND RELEVANCE
What the sources say
- Not checked yetcites [21] Bishop DVM Maybery M Wong D Maley A Hallmayer J Characteristics of the broader phenotype in autism: a study of siblings using the Children’s Communication Checklist-2 Am J Med Genet B Neuropsychiatr Genet 2006 141B 2 117 122 16389586
- Not checked yetcites [22] Constantino JN Todorov A Hilton C Autism recurrence in half siblings: strong support for genetic mechanisms of transmission in ASD Mol Psychiatry 2013 18 2 137 138 22371046
- Not checked yetcites [9] Ronald A Hoekstra RA Autism spectrum disorders and autistic traits: a decade of new twin studies Am J Med Genet B Neuropsychiatr Genet 2011 156B 3 255 274 21438136
- Not checked yetcites [23] Sucksmith E Roth I Hoekstra RA Autistic traits below the clinical threshold: re-examining the broader autism phenotype in the 21st century Neuropsychol Rev 2011 21 4 360 389 21989834
- Not checked yetcites [24] Pickles A Starr E Kazak S Variable expression of the autism broader phenotype: findings from extended pedigrees J Child Psychol Psychiatry 2000 41 4 491 502 10836679
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesProbably not a substantial claim.
In the paper
“Most recently, in the same population, molecular genetic analysis19 indicated that 95% of variance in ASD is accounted for by common allelic variants, supporting a polygenic model.”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Abstract > CONCLUSIONS AND RELEVANCE
What the sources say
- Not checked yetcites [19] Gaugler T Klei L Sanders SJ Most genetic risk for autism resides with common variation Nat Genet 2014 46 8 881 885 25038753 PMC4137411
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
None of the sources cited for this claim have been checked yet.
In the paper
“Of the 412 eligible families for the Social Relationship Study at stage 1, 80.1% completed the Development and Well-being Assessment (DAWBA) interview.34,35”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Methods > Participants
What the sources say
- Not checked yetcites [34] Dworzynski K Happé F Bolton P Ronald A Relationship between symptom domains in autism spectrum disorders: a population based twin study J Autism Dev Disord 2009 39 8 1197 1210 19373549
- Not checked yetcites [35] Goodman R Ford T Richards H Gatward R Meltzer H The Development and Well-Being Assessment: description and initial validation of an integrated assessment of child and adolescent psychopathology J Child Psychol Psychiatry 2000 41 5 645 655 10946756
Strength:plain· not yet calibratedn = 412Tests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
None of the sources cited for this claim have been checked yet.
In the paper
“Two twin studies15,16 stand in contrast and reported only moderate heritability (21%-38%), with a substantial shared environmental component explaining 58% to 78% of the variance in liability to autism spectrum disorder (ASD).”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Abstract > CONCLUSIONS AND RELEVANCE
What the sources say
- Not checked yetcites [15] Hallmayer J Cleveland S Torres A Genetic heritability and shared environmental factors among twin pairs with autism Arch Gen Psychiatry 2011 68 11 1095 1102 21727249 PMC4440679
- Not checked yetcites [16] Frazier TW Thompson L Youngstrom EA A twin study of heritable and shared environmental contributions to autism J Autism Dev Disord 2014 44 8 2013 2025 24604525 PMC4104233
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
In the paper
“In addition, a large population study of extended families (approximately 2 million individuals)18 reported estimates of 50% for heritability and nonshared environmental factors.”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Abstract > CONCLUSIONS AND RELEVANCE
What the sources say
- Not checked yetcites [18] Sandin S Lichtenstein P Kuja-Halkola R Larsson H Hultman CM Reichenberg A The familial risk of autism JAMA 2014 311 17 1770 1777 24794370 PMC4381277
Strength:hedged· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it. It may state two separate claims as one.
In the paper
“The ADI-R is a well-established diagnostic tool for the assessment of autism.36”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Methods > Measures
What the sources say
- Not checked yetcites [36] Lord C Rutter M Le Couteur A Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders J Autism Dev Disord 1994 24 5 659 685 7814313
Strength:boosted· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“The 2:1 MZ:DZ ratio of the cross-twin within-trait correlations for the ADOS assessment and BeD suggest a significant contribution of genetic effects, with the remainder explained by nonshared environmental effects (Table 2).”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Results > Twin Correlations
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
What the paper did — it cites no source for this, so there is none to check. The quote shows it is in the paper.
In the paper
“Diagnoses were assigned with investigators blinded to zygosity and co-twin diagnostic status after review of all available information (ADI-R, ADOS, and DAWBA assessments and clinical reports).”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Methods > Measures
Load-bearingStrength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesProbably not a substantial claim.
None of the sources cited for this claim have been checked yet.
In the paper
“Recent reviews of this literature5,7-9 show general agreement across studies that concordance for autism in monozygotic (MZ) twin pairs is typically at least double that in dizygotic (DZ) twin pairs, resulting in high heritability estimates (60%-90%)10-14 and suggesting little influence of shared environmental factors.”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Abstract > CONCLUSIONS AND RELEVANCE
What the sources say
- Not checked yetcites [5] Bailey A Le Couteur A Gottesman I Autism as a strongly genetic disorder: evidence from a British twin study Psychol Med 1995 25 1 63 77 7792363
- Not checked yetcites [7] Taniai H Nishiyama T Miyachi T Imaeda M Sumi S Genetic influences on the broad spectrum of autism: study of proband-ascertained twins Am J Med Genet B Neuropsychiatr Genet 2008 147B 6 844 849 18361421
- Not checked yetcites [8] Rosenberg RE Daniels AM Law JK Law PA Kaufmann WE Trends in autism spectrum disorder diagnoses: 1994-2007 J Autism Dev Disord 2009 39 8 1099 1111 19294498
- Not checked yetcites [9] Ronald A Hoekstra RA Autism spectrum disorders and autistic traits: a decade of new twin studies Am J Med Genet B Neuropsychiatr Genet 2011 156B 3 255 274 21438136
- Not checked yetcites [10] Ronald A Happé F Plomin R The genetic relationship between individual differences in social and nonsocial behaviours characteristic of autism Dev Sci 2005 8 5 444 458 16048517
- Not checked yetcites [11] Ronald A Happé F Price TS Baron-Cohen S Plomin R Phenotypic and genetic overlap between autistic traits at the extremes of the general population J Am Acad Child Adolesc Psychiatry 2006 45 10 1206 1214 17003666
- Not checked yetcites [12] Ronald A Happé F Plomin R A twin study investigating the genetic and environmental aetiologies of parent, teacher and child ratings of autistic-like traits and their overlap Eur Child Adolesc Psychiatry 2008 17 8 473 483 18427861
- Not checked yetcites [13] Skuse DH Mandy WPL Scourfield J Measuring autistic traits: heritability, reliability and validity of the Social and Communication Disorders Checklist Br J Psychiatry 2005 187 568 572 16319410
- Not checked yetcites [14] Hoekstra RA Bartels M Verweij CJ Boomsma DI Heritability of autistic traits in the general population Arch Pediatr Adolesc Med 2007 161 4 372 377 17404134
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
In the paper
“The ADOS is a well-validated, semistructured observational assessment designed to accompany the ADI-R in the diagnosis of ASD.37”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Methods > Measures
What the sources say
- Not checked yetcites [37] Lord C Rutter M Goode S Autism Diagnostic Observation Schedule: a standardized observation of communicative and social behavior J Autism Dev Disord 1989 19 2 185 212 2745388
Strength:boosted· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
In the paper
“a cutoff score of 15 or greater is reported to have 100% sensitivity, 97% specificity, and a positive predictive value of 50% for a diagnosis of ASD.28”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Methods > Measures
What the sources say
- Not checked yetcites [28] Williams J Scott F Stott C The CAST (Childhood Asperger Syndrome Test): test accuracy Autism 2005 9 1 45 68 15618262
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it. It may state two separate claims as one.
What the paper did — it cites no source for this, so there is none to check. The quote shows it is in the paper.
In the paper
“In 89 cases, the diagnostic classifications across instruments were inconsistent. In these cases, all available data were assessed by expert clinicians (E.C., S.R.C., and/or P.B.), and best-estimate diagnoses (BeDs) were assigned based on this review.”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Methods > Measures
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesProbably not a substantial claim. It may state two separate claims as one.
In the paper
“Shared environmental factors were modeled on ASD only; they do not influence the variance of the CAST scores46 and therefore cannot explain the covariance with ASD.”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Methods > Data Analysis
What the sources say
- Not checked yetcites [46] Holmboe K Rijsdijk FV Hallett V Happé F Plomin R Ronald A Strong genetic influences on the stability of autistic traits in childhood J AmAcad Child Adolesc Psychiatry 2014 53 2 221 230 PMC3919213 24472256
Load-bearingStrength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
In the paper
“Our study is novel in using criterion-standard, in-person, clinical diagnostic tools with a population-based (vs a clinic-based) sample in which ascertainment was good (62.1% response rate from the eligible sample compared with 17% in the study by Hallmayer et al15).”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Abstract > CONCLUSIONS AND RELEVANCE
What the sources say
- Not checked yetcites [15] Hallmayer J Cleveland S Torres A Genetic heritability and shared environmental factors among twin pairs with autism Arch Gen Psychiatry 2011 68 11 1095 1102 21727249 PMC4440679
Load-bearingStrength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
What the paper did — it cites no source for this, so there is none to check. The quote shows it is in the paper.
In the paper
“At stage 2, 62.1% of the 235 eligible families underwent diagnostic evaluations.”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Methods > Participants
Strength:plain· not yet calibratedn = 235Tests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
None of the sources cited for this claim have been checked yet.
In the paper
“Previous studies15,16 have identified their twin samples through clinical services. Such a strategy could result in sampling bias; if registration or participation is influenced by concordance, probandwise concordance rates in DZ twin pairs might be increased, resulting in inflated estimates of common environmental influence.”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Abstract > CONCLUSIONS AND RELEVANCE
What the sources say
- Not checked yetcites [15] Hallmayer J Cleveland S Torres A Genetic heritability and shared environmental factors among twin pairs with autism Arch Gen Psychiatry 2011 68 11 1095 1102 21727249 PMC4440679
- Not checked yetcites [16] Frazier TW Thompson L Youngstrom EA A twin study of heritable and shared environmental contributions to autism J Autism Dev Disord 2014 44 8 2013 2025 24604525 PMC4104233
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
What the paper did — it cites no source for this, so there is none to check. The quote shows it is in the paper.
In the paper
“Among the group with high CAST scores or suspected ASD, 36.4% were female compared with 16.6% of the final sample.”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Methods > Participants
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
In the paper
“In comparison, 1 recent twin study did not confirm significant shared environmental effects and reported heritability of 95%.17”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Abstract > CONCLUSIONS AND RELEVANCE
What the sources say
- Not checked yetcites [17] Nordenbæk C Jørgensen M Kyvik KO Bilenberg N A Danish population-based twin study on autism spectrum disorders Eur Child Adolesc Psychiatry 2014 23 1 35 43 23661220
Load-bearingStrength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesProbably not a substantial claim. It may state two separate claims as one.
What the paper did — it cites no source for this, so there is none to check. The quote shows it is in the paper.
In the paper
“This design meant that different assessors administered the ADI-R and ADOS assessments within each pair to minimize any effects of rater bias.”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Methods > Participants
Strength:plain· not yet calibratedCausal:direct· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
What the paper did — it cites no source for this, so there is none to check. The quote shows it is in the paper.
In the paper
“The Twins Early Development Study sample is considered representative of the population of the United Kingdom in terms of maternal ethnicity (92.8% white) and educational level (40.1% with A level qualifications or higher, the equivalent of some college education in the United States).”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Methods > Participants
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Analyses partitioning liability into genetic and shared and nonshared environmental components indicate that most liability could be attributed to additive genetic influences and a smaller proportion attributed to non-shared environmental influences. This finding held across a number of different measures.”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Discussion
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
- The authors state this as an assumption: The liability to ASD and a broader autism phenotype follows a continuous distribution.
- The authors state this as an assumption: CAST scores and the three ASD diagnostic categories follow a joint multivariate normal distribution.
A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Our findings are broadly in line with those of recent twin and family studies and point toward strong genetic effects in ASD and no strong influence from shared environmental factors.”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Discussion
Load-bearingStrength:boosted· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Our findings also confirm that the heritability of the liability to ASD is high when incorporating subclinical cases with high trait scores into the model, extending support for the notion that the genetic liability to autism confers a risk for a broader autism phenotype.”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Discussion
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“This result indicates common etiologic underpinnings for individual differences in autistic traits across the whole spectrum and in our 3 clinically meaningful categories (ASD, high subclinical trait level, and low risk/trait level).”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Discussion
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“The liability to ASD and a more broadly defined high-level autism trait phenotype in this large population-based twin sample derives primarily from additive genetic and, to a lesser extent, nonshared environmental effects.”
- Also stated in: § Conclusions · plain
“We conclude that liability to ASD and a more broadly defined high-level autism trait phenotype in UK twins 8 years or older derives from substantial genetic and moderate nonshared environmental influences.”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Abstract > CONCLUSIONS AND RELEVANCE
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
- The authors state this as an assumption: The liability to ASD and a broader autism phenotype follows a continuous distribution.
- The authors state this as an assumption: CAST scores and the three ASD diagnostic categories follow a joint multivariate normal distribution.
- Also stated in: § Conclusions · plain
What the paper did — it cites no source for this, so there is none to check. The quote shows it is in the paper.
In the paper
“In addition, to the best of our knowledge, this study is one of the largest screened population-based twin studies yet reported.”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Discussion
Strength:hedged· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✗ Based: failsProbably not a substantial claim. The paper’s conclusions may not depend on it. The paper may give no reason why it holds. The quote only partly states this claim.
The paper states this without a source or data behind it here, so there is nothing to check it against. The quote shows it is in the paper.
In the paper
“Heritability estimates are also population specific and depend on the dynamic interaction with the current environment.”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Discussion
Strength:plain· not yet calibratedCausal:correlational· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it. It may state two separate claims as one.
In the paper
“We found very little evidence of shared environmental effects overall, which is contrary to the findings of Hallmayer et al,15 although the wide CIs in their results for additive genetic and shared environmental effects overlap with some of the present estimates.”
§ Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample > Discussion
What the sources say
- Not checked yetcites [15] Hallmayer J Cleveland S Torres A Genetic heritability and shared environmental factors among twin pairs with autism Arch Gen Psychiatry 2011 68 11 1095 1102 21727249 PMC4440679
Load-bearingStrength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
The authors state this as an assumption.
The liability to ASD and a broader autism phenotype follows a continuous distribution.
“we assumed a continuous liability distribution underlying ASD and a more broadly defined phenotype with high-level autism traits that fell short of thresholds for an ASD diagnosis.”
The authors state this as an assumption.
CAST scores and the three ASD diagnostic categories follow a joint multivariate normal distribution.
“The assumption of a joint multivariate normal distribution for CAST scores and the 3 ASD diagnostic categories (unaffected, broad-spectrum disorder, and ASD) allowed the estimation of correlations within and across MZ/DZ twin pairs.”
The authors state this as an assumption.
MZ and DZ twins experience equivalent environments.
“twin study methods assume that the environments of MZ and DZ53 twins are equal”
The authors state this as an assumption.
Twins do not have an unusually elevated risk for the condition being studied.
“and that twins are not at especially high risk for the disorder under investigation.”
The authors state this as an assumption.
No gene-environment interactions or correlations exist.
“genetic modeling assumes that no gene-environment interactions or correlations exist”
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“It is known that autism is strongly influenced by the genome-in contrast to earlier speculation, ranges of heritability estimates generally center ~50 or 55%”
From The Role of the Immune System in Autism Spectrum Disorder (2017) · cites this paper as Colvert et al, 2015
In the citing paper
“The strong concordance of ASD in monozygotic twins compared to dizygotic twins reveals an ASD heritability rate of about 50% (80, 81).”
From Emerging Roles for the Gut Microbiome in Autism Spectrum Disorder (2017) · cites this paper as [81]
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Metadata
- Authors
- Colvert, E., Tick, B., McEwen, F., Stewart, C., Curran, S. R., Woodhouse, E., Gillan, N., Hallett, V., Lietz, S., Garnett, T., Ronald, A., Plomin, R., Rijsdijk, F., Happé, F., & Bolton, P.
- Affiliations
- King's College London (GB)
- National Health Service (GB)
- Brighton and Sussex Medical School (GB)
- University College London (GB)
- University of London (GB)
- MRC Social, Genetic, and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology, and Neuroscience, King’s College London, London, England
- Corresponding author
- Tick, Beata
- ORCID
- Venue
- JAMA Psychiatry
- Publisher
- American Medical Association (AMA)
- Published
- 2015-05-01
- Volume
- 72
- Issue
- 5
- Pages
- 415
- ISSN
- 2168-622X (ISSN-L)
- PMC
- PMC4724890
- OpenAlex
- W2153438724
- Cited by
- 560
- References
- 59
- Citations by year
- 2026: 90 · 2025: 28 · 2024: 25 · 2023: 37 · 2022: 42 · 2021: 53 · 2020: 62 · 2019: 82 · 2018: 42 · 2017: 33 · 2016: 42 · 2015: 21
- FWCI
- 27.62
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- JAMA Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- BIROn (Birkbeck, University of London) (submittedVersion)
- Research Portal (King's College London) (submittedVersion, other-oa)
- Funders
- Autism Speaks
- National Institute for Health and Care Research (NF-SI-0510-10268)
- Medical Research Council (G0500870, G0901245, G0500079, MR/J500380/1)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- autism spectrum disorder, heritability, genetic susceptibility, monozygotic twins, dizygotic twins, additive genetic effects, shared environmental effects, autistic traits, Twins Early Development Study
- MeSH terms
- Adolescent, Child, Child Development Disorders, Pervasive, Diseases in Twins, England, Environment, Female, Humans, Male, Models, Genetic, Phenotype, Twins, Dizygotic, Twins, Monozygotic, Wales, Genetic Predisposition to Disease
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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