Minor physical anomalies in autism: A meta-analysis

Department of Child and Adolescent Psychiatry, University Medical Centre, Utrecht, The Netherlands.
Molecular Psychiatry (Impact Factor: 14.5). 08/2008; 15(3):300-7. DOI: 10.1038/mp.2008.75
Source: PubMed


Autism is a complex neurodevelopmental disorder in which the interactions of genetic, epigenetic and environmental influences play a causal role. Despite the compelling evidence for a strong heritability, the etiology and molecular mechanisms underlying autism remain unclear. High phenotypic variability and genetic heterogeneity confounds the identification of susceptibility genes. The lack of robust indicators to tackle this complexity in autism has led researchers to seek for novel diagnostic tools to create homogenous subgroups. Several studies have indicated that patients with autism have higher rates of minor physical anomalies (MPAs) and that MPAs may serve as a diagnostic tool; however, the results have been inconsistent. Using the cumulative data from seven studies on MPAs in autism, this meta-analysis seeks to examine whether the aggregate data provide evidence of a large mean effect size and statistical significance for MPAs in autism. It covers the studies using multiple research methods till June 2007. The current results from seven studies suggested a significant association of MPAs in autism with a robust pooled effect size (d=0.84), and thereby provide the strongest evidence to date about the close association between MPAs and autism. Our results emphasize the importance of MPAs in the identification of heterogeneity in autism and suggest that the success of future autism genetics research will be exploited by the use of MPAs. Implications for the design of future studies on MPAs in autism are discussed and suggestions for further investigation of these important markers are proposed. Clarifying this relation might improve understanding of risk factors and molecular mechanisms in autism.

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    • "Meta-analysis of previously studies revealed significant physical abnormalities shown in autistic population. (Ozgen, 2010). Both deep set-nails and wide nasal bridge were found in 23% of dysmorphic subjects where there's only 1% and 2% in non-dysmorphic group respectively, and low anterior hair line and thin upper lips have a higher rate of incidence too according to the finding of Miles, 2008; Marcocephaly was reported in 16.7% of his sample in Fombonne (1999)'s study and was significantly higher then expected in the predicted percentage. "
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    ABSTRACT: Data from 1,261 Chinese Autistic Spectrum Disorder (ASD) patients were evaluated and categorized into dysmorphic (10.79 %) and non-dysmorphic groups (89.21 %) upon physical examination by the presence of dysmorphic features. Abnormal MRI/CT result, IQ scores and epilepsy were significantly associated with the dysmorphic group of ASD children. However, gender, EEG abnormality and family history and recurrence of ASD were not found to be significantly different between group statuses. It is suggested that results collected from the Chinese population generally resembles that found in the Caucasians with ethnical differences still present. Current study supports the result shown in Miles' study (Miles et al. in Am J Med Genet 135A:171-180, 2005), in which heterogeneity subtypes of autism of different genetic origins which could be distinguished by presence of dysmorphic features on the patients.
    Full-text · Article · May 2013 · Journal of Autism and Developmental Disorders
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    • "Minor physical anomalies are slight morphological deviations, typically harmless and without cosmetic or medical importance to the individual, but indicative of an underlying neurodevelopmental disorder (Aase, 1990). In a recent meta-analysis including seven studies (in total, 330 patients with autism were compared to 388 healthy controls), Ozgen et al. (2010) found strong support for the association between MPAs and autism. They recommended that future autism genetic research utilize MPAs. "
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    ABSTRACT: Individuals with autism have higher rates of minor physical anomalies (MPAs) than neurotypical persons. Minor physical anomalies are slight morphological deviations typically harmless and without cosmetic or medical importance to the individual but indicative of an underlying neurodevelopmental disorder .In genetic autism research the utilization of MPAs have been recommended. In the present study the prevalence of pes planus or flatfoot in adults with ASD compared to age and sex matched neurotypical adults were investigated with two different methods. A photograph of the feet were obtained from underneath while the subjects were standing on a glass table. From this imprint calculations were made. In addition the medial longitudinal foot arch was measured with a Verniper calliper. The ultimate purpose of this study was to evaluate if flatfoot deformity could be utilized as an MPA in ASD. In this cohort of nearly one hundred adults no one fulfilled the predefined criteria of a flatfoot diagnosis but a lower foot arch height was shown in individuals with ASD compared to controls, confirming the clinical impression.
    Full-text · Article · Jan 2013 · Research in Autism Spectrum Disorders
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    • "Excessive head growth found in the first year of life, in children later diagnosed with autism, has been one of the most promising quantitative traits (Miles et al. 2000; Sacco et al. 2007). As to other morphological characteristics, an excess of minor physical anomalies (MPAs) in autistic individuals received specific attention (Steg and Rapoport 1975; Gualtieri et al. 1982; Hardan et al. 2006; Miles et al. 2008; Ozgen et al. 2010a, b). Recently, the largest study to date comparing morphological features in 224 autistic patients and 224 matched-pairs controls, showed that the morphological abnormalities were significantly more prevalent in patients with autism than in the normal control group and 48 morphological features distinguished patients from controls (Ozgen et al. 2010a, b). "
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    ABSTRACT: We investigated the predictive power of morphological features in 224 autistic patients and 224 matched-pairs controls. To assess the relationship between the morphological features and autism, we used the receiver operator curves (ROC). In addition, we used recursive partitioning (RP) to determine a specific pattern of abnormalities that is characteristic for the difference between autistic children and typically developing controls. The present findings showed that morphological features are significantly increased in patients with autism. Using ROC and RP, some of the morphological measures also led to strong predictive accuracy. Facial asymmetry, multiple hair whorls and prominent forehead significantly differentiated patients with autism from controls. Future research on multivariable risk prediction models may benefit from the use of morphological features. Electronic supplementary material The online version of this article (doi:10.1007/s10803-012-1554-4) contains supplementary material, which is available to authorized users.
    Full-text · Article · Jun 2012 · Journal of Autism and Developmental Disorders
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