| Literature DB >> 24782925 |
Irina Manouilenko1, Jonna M Eriksson2, Mats B Humble3, Susanne Bejerot2.
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.Entities:
Year: 2014 PMID: 24782925 PMCID: PMC3982266 DOI: 10.1155/2014/743482
Source DB: PubMed Journal: Autism Res Treat ISSN: 2090-1933
Sample characteristics of the ASD group and the neurotypical controls.
| ASD | Controls | |
|---|---|---|
| Age, years, mean (SD) | 30.0 (7.3) | 30.4 (7.5) |
| Sex, males, | 26 (52) | 28 (53) |
| Education, | ||
| ≤9 years | 8 | 1 |
| ≤12 years | 18 | 7 |
| University level | 24 | 45 |
| Cohabiting with partner, | 9 (18) | 26 (49) |
| Having children, | 8 (16) | 11 (21) |
| The Autism Spectrum Quotient, | 29.4 (9.8) | 11.2 (4.9) |
| GAF, past month, mean (SD) | ||
| Symptoms | 55.6 (6.5) | 97.5 (4.4) |
| Functioning | 55.0 (9.2) | 97.6 (4.2) |
| ADOS, mean (SD) | ||
| Soc-Com | 8.3 (2.9) | — |
| Total | 10.4 (3.3) | — |
ASD: autism spectrum disorder; GAF: Global Assessment of Functioning; ADOS: Autism Diagnostic Observation Schedule; Soc-Com: combined social interaction-communication score.
Comparison of MPA rates between the ASD and neurotypical control groups.
| Minor Physical Anomalies | Score | MM/PV | ASD | NC |
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| Head circumference | PV | |||||
| 1.5–2 SD | 1 | 23 (46) | 27 (50.9) | |||
| >2 SD | 2 | 8 (16) | 2 (3.8) | |||
| Fine electric hair | MM | 6.6 (2) | 0.037* | |||
| Hair soon awry | 1 | 12 (24) | 4 (7.5) | |||
| Hair unmanageable | 2 | 1 (2) | — | |||
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| Epicanthus (the point of union where | PV | |||||
| Partly covered | 1 | 8 (16) | 7 (13.2) | |||
| Deeply covered | 2 | 1 (2) | 2 (3.8) | |||
| Intercanthal distance/hypertelorism | PV | |||||
| Moderate | 1 | 22 (44) | 19 (35.8) | |||
| Extensive | 2 | 1 (2) | 1 (1.9) | |||
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| Seating ears—bottom of ears in line with | PV | |||||
| Area between mouth and nose | 1 | 8 (16) | 9 (17) | |||
| Mouth (or lower) | 2 | — | — | |||
| Adherent ear lobes | MM | |||||
| Lower edges of ears extend | ||||||
| Moderate/Straight back toward rear of neck | 1 | 16 (32) | 14 (26.4) | |||
| Extensive/Upward and back toward crown of head | 2 | 18 (36) | 14 (26.4) | |||
| Asymmetrical ears | 1 | PV | 10 (20) | 3 (5.7) | ||
| Malformed ears | 1 | MM | 5 (10) | 4 (7.5) | ||
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| High/steepled palate | PV | |||||
| Roof of mouth: | ||||||
| Flat and narrow at the top | 1 | 12 (24) | 13 (24.5) | |||
| Definitely steepled | 2 | — | 3 (5.7) | |||
| Furrowed tongue (one with deep ridges) | 1 | MM | 7 (14) | 4 (7.5) | ||
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| Curved fifth finger: | MM | 5.5 (1) | 0.019a | |||
| Moderately curved | 1 | 2 (4) | 10 (18.9) | |||
| Extensively curved | 2 | — | — | |||
| Single transverse palmar crease | 1 | MM | 7 (14) | — | 78.0 (1) | 0.005* |
| Fifth-finger stubbing | 1 | MM | 1 (2) | |||
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| Third toe: | ||||||
| Equal in length to second | 1 | PV | 2 (4) | — | ||
| Definitely longer than second | 2 | — | — | |||
| Partial syndactylia of second and third toes | 1 | MM | — | 3 (5.7) | ||
| Big gap between first and second toes | 1 | PV | 36 (72) | 40 (75.5) | ||
ASD: autism spectrum disorder; NC: neurotypical controls; MM: minor malformation; PV: phenogenetic variants; aHigher scores in controls; level of significance *P < 0.05. Items are assessed according to descriptive anchor points (scored 0-1 or 0–2) depending on severity and “0” is defined as “no deviation”.
Figure 1Frequency distribution of total Minor Physical Anomalies (MPA) scores in 50 individuals with autism spectrum disorder and 53 neurotypical controls.
Comparison of MPA scores by Mann-Whitney U test.
| ASD ( |
Neurotypical controls ( |
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| Mean (SD) | Median | Mean (SD) | Median | ||||
| CF-MPA | 3.64 (1.97) | 4 | 2.69 (1.51) | 3 | 990 (−2.2) | 0.025 | 0.22 |
| Head | 1.06 (0.89) | 1 | 0.66 (0.67) | 1 | 1001 (−2.3) | 0.022 | 0.23 |
| Eyes | 0.68 (0.77) | 1 | 0.61 (0.82) | 0 | 1213 (−0.6) | n.s. | |
| Ears | 1.52 (1.27) | 1.5 | 1.09 (1.07) | 1 | 1069 (−1.8) | n.s. | |
| Mouth | 0.38 (0.60) | 0 | 0.43 (0.60) | 0 | 1255 (−0.6) | n.s. | |
| P-MPA | 0.95 (0.69) | 1 | 1.0 (0.65) | 1 | 1262 (−0.5) | n.s. | |
| Hands | 0.19 (0.43) | 0 | 0.19 (0.40) | 0 | 1314 (−0.1) | n.s. | |
| Feet | 0.76 (0.52) | 1 | 0.81 (0.48) | 1 | 1259 (−0.5) | n.s. | |
| Total MPA |
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ASD: autism spectrum disorder; MPA: Minor Physical Anomalies; CF-MPA: craniofacial MPAs including MPAs in head, eyes, ears, and mouth; P-MPA: periphery index including MPAs in hands and feet; U (z): Mann-Whitney U; r: Pearson effect size.
Figure 2Topographical distributions of MPAs in ASD and controls. The graph shows the mean MPA score distributed on each of the six body regions in ASD and neurotypical controls, respectively.
Correlations between MPA total, ear MPA, CF-MPA, AQ, and GAF scores for the ASD group, by MPA level (high or low) and gender.
| ASD individuals |
| Ear index | Craniofacial index | Total MPA | |
|---|---|---|---|---|---|
| Low-MPA | 23 (46) | AQ | 0.16 | 0.39 | 0.46* |
| GAF-s | −0.04 | −0.04 | −0.05 | ||
| GAF-f | −0.29 | −0.41 | −0.14 | ||
| ADOS | 0.30 | 0.56** | 0.37 | ||
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| High-MPA | 27 (54) | AQ | 0.10 | −0.20 | −0.08 |
| GAF-s | −0.25 | −0.54** | −0.57** | ||
| GAF-f | −0.30 | −0.50** | −0.52** | ||
| ADOS | 0.43* | 0.30 | 0.25 | ||
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| All | 50 (100) | AQ | 0.23 | 0.20 | 0.23 |
| GAF-s | −0.06 | −0.12 | −0.13 | ||
| GAF-f | −0.30* | −0.36* | −0.31* | ||
| ADOS | 0.30* | 0.30* | 0.23 | ||
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| Men | 26 (52) | AQ | 0.42* | 0.38 | 0.35 |
| GAF-s | −0.002 | −0.012 | −0.05 | ||
| GAF-f | −0.40 | −0.48* | −0.49* | ||
| ADOS | 0.49* | 0.53** | 0.50** | ||
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| Women | 24 (48) | AQ | 0.070 | 0.031 | 0.12 |
| GAF-s | −.052 | −0.18 | −0.14 | ||
| GAF-f | −0.19 | −0.20 | −0.093 | ||
| ADOS | 0.14 | 0.12 | 0.013 | ||
ASD: autism spectrum disorder; MPA: Minor Physical Anomalies; GAF-s: Global Assessment of Functioning-symptoms; GAF-f: Global Assessment of Functioning-functioning; AQ: the Autism Spectrum Quotient; ADOS: ADOS-4 social interaction-communications score. Significances of correlations (Spearman's rank correlation test) are denoted by *P < 0.05, **P < 0.01.