Abstract
Minor Physical Anomalies (MPAs) are subtle abnormalities of the head, face, and limbs, without significant cosmetic or functional impact to the individual. They are assumed to represent external markers of developmental deviations during foetal life. MPAs have been suggested to indicate severity in mental illness and constitute external markers for atypical brain development. Higher frequencies of MPAs can be found in children with autism. The aims of the present study were to examine the prevalence and patterns of MPAs in adults with autism spectrum disorder (ASD) and to investigate whether MPAs are associated with symptom severity and overall functioning. Fifty adults with ASD and intelligence within the normal range and 53 healthy controls were examined with the Waldrop scale, an instrument for assessing MPAs. Face and feet were photographed enabling blinded assessment. Significant differences between the ASD and the control group were found on the MPA total scores, and also in the craniofacial region scores. Moreover, the shape of the ears was associated with autistic traits, in the ASD group. High MPA total scores were associated with poorer functioning. The findings suggest a link between MPAs, autistic traits, and level of functioning. Assessment of MPAs may assist in the diagnostic procedure of psychiatric disorders.
Highlights
Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders, characterized by atypical development, impairment in reciprocal social interaction and communication, and restricted repetitive and stereotyped patterns of behavior, interests, and activities
Comparisons between the ASD and control groups revealed, as expected, large differences in the three symptom-related measures tested in both groups (Table 1)
The distribution of the total Minor Physical Anomalies (MPAs) score in the ASD group was bimodal; the lower mode overlapped with the distribution of the controls whereas the higher mode only appeared in the ASD group (Figure 1)
Summary
Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders, characterized by atypical development, impairment in reciprocal social interaction and communication, and restricted repetitive and stereotyped patterns of behavior, interests, and activities. ASD includes autistic disorder, Asperger disorder, and pervasive developmental disorders not otherwise specified [1] and occurs in nearly 2% of the population [2]. ASD is remarkably heterogeneous and includes people with intelligence levels ranging from severe intellectual disability to very high IQ. Since no specific biological markers for ASD have been identified, the diagnosis of ASD is based on expert evaluation of cognitive, language, social, and emotional functioning along with developmental progress. In twin studies a strong evidence of genetic etiology of ASD has been shown [4,5,6]
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