Clinical and Laboratory Data in a Sample of Greek Children with Autism Spectrum Disorders

Ververi, Athina; Vargiami, Euthymia; Papadopoulou, Vasiliki; Tryfonas, D.; Zafeiriou, Dimitrios I.

doi:10.1007/s10803-011-1414-7

Cited by 29 publications

(25 citation statements)

References 37 publications

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“…Converging evidence from magnetic resonance imaging and HC studies has documented that individuals with ASD have larger brains and heads than comparison subjects (3,6–16,40–43). HC has been shown to be a good measure of brain volume in children less than 6 years of age, with high correlation (0.96) between both measures at this age (44,45).…”

Section: Discussionmentioning

confidence: 99%

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Adjusting Head Circumference for Covariates in Autism: Clinical Correlates of a Highly Heritable Continuous Trait

Chaste

Klei

Sanders

et al. 2013

Biological Psychiatry

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BACKGROUND Brain development follows a different trajectory in children with Autism Spectrum Disorders (ASD) than in typically developing children. A proxy for neurodevelopment could be head circumference (HC), but studies assessing HC and its clinical correlates in ASD have been inconsistent. This study investigates HC and clinical correlates in the Simons Simplex Collection cohort. METHODS We used a mixed linear model to estimate effects of covariates and the deviation from the expected HC given parental HC (genetic deviation). After excluding individuals with incomplete data, 7225 individuals in 1891 families remained for analysis. We examined the relationship between HC/genetic deviation of HC and clinical parameters. RESULTS Gender, age, height, weight, genetic ancestry and ASD status were significant predictors of HC (estimate of the ASD effect=0.2cm). HC was approximately normally distributed in probands and unaffected relatives, with only a few outliers. Genetic deviation of HC was also normally distributed, consistent with a random sampling of parental genes. Whereas larger HC than expected was associated with ASD symptom severity and regression, IQ decreased with the absolute value of the genetic deviation of HC. CONCLUSIONS Measured against expected values derived from covariates of ASD subjects, statistical outliers for HC were uncommon. HC is a strongly heritable trait and population norms for HC would be far more accurate if covariates including genetic ancestry, height and age were taken into account. The association of diminishing IQ with absolute deviation from predicted HC values suggests HC could reflect subtle underlying brain development and warrants further investigation.

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Section: Discussionmentioning

confidence: 99%

“…HC studies typically report increased rates (11~27%) of macrocephaly (HC≥97 th percentile or 2 standard deviations) in ASD compared with general population (6–16). However, some studies suggested that the use of national normative samples as control data could introduce biases including ancestry and secular effect (17–19).…”

mentioning

confidence: 99%

Adjusting Head Circumference for Covariates in Autism: Clinical Correlates of a Highly Heritable Continuous Trait

Chaste

Klei

Sanders

et al. 2013

Biological Psychiatry

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“…7 Fewer than 5% of ASD cases are attributable to inherited metabolic disorders for which screening is routine, such as phenylketonuria. 3,8 The observation of autistic symptoms in patients with creatine deficiency syndromes (CDSs) implies that impairment in creatine metabolism may play a role in the neurobiology of ASD and if so it may represent a treatable cause of ASD. 9 The prevalence of CDS in children with ASD is unknown.…”

Section: What This Study Addsmentioning

confidence: 99%

Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism

et al. 2016

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“…Table 1 lists the 34 studies identified by our systematic review(15–22,24,25,35,44–66), according to publication date and study characteristics.…”

Section: Findings: Systematic Reviewmentioning

confidence: 99%

Compared to What? Early Brain Overgrowth in Autism and the Perils of Population Norms

Raznahan

Wallace

Antezana

et al. 2013

Biological Psychiatry

109

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Background Early brain overgrowth (EBO) in autism spectrum disorder (ASD) is amongst the best-replicated biological associations in psychiatry. Most positive reports have compared head circumference (HC) in ASD (an excellent proxy for early brain size) with well-known reference norms. We sought to reappraise evidence for the EBO hypothesis given (i) the recent proliferation of longitudinal HC studies in ASD, and (ii) emerging reports that several of the reference norms used to define EBO in ASD may be biased towards detecting HC overgrowth in contemporary samples of healthy children. Methods (1)Systematic review of all published HC studies in children with ASD. (2)Comparison of 330 longitudinally gathered HC measures between birth and 18 months from male children with autism(n=35) and typically developing controls(n=22). Results In systematic review, comparisons with locally recruited controls were significantly less likely to identify EBO in ASD than norm-based studies(p<0.006). Through systematic review and analysis of new data we replicate seminal reports of EBO in ASD relative to classical HC norms, but show that this overgrowth relative to norms is mimicked by patterns of HC growth age in a large contemporary community-based sample of US children(n~75,000). Controlling for known HC norm biases leaves inconsistent support for a subtle, later-emerging and sub-group specific pattern of EBO in clinically-ascertained ASD vs. community controls. Conclusions The best-replicated aspects of EBO reflect generalizable HC norm biases rather than disease-specific biomarkers. The potential HC norm biases we detail are not specific to ASD research, but apply throughout clinical and academic medicine.

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Clinical and Laboratory Data in a Sample of Greek Children with Autism Spectrum Disorders

Cited by 29 publications

References 37 publications

Adjusting Head Circumference for Covariates in Autism: Clinical Correlates of a Highly Heritable Continuous Trait

Adjusting Head Circumference for Covariates in Autism: Clinical Correlates of a Highly Heritable Continuous Trait

Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism

Compared to What? Early Brain Overgrowth in Autism and the Perils of Population Norms

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