Minor physical anomalies in children with autism spectrum disorders

Abstract

Objective There is clinical heterogeneity among the autistic spectrum disorders (ASD). The presence of dysmorphology (minor physical anomalies; MPAs) is one possible tool for defining a clinically relevant subset in ASD. This study expands on Miles and Hillman's (2000) classifications by using photographs to identify a subgroup with significant dysmorphology among children with ASD, typical development (TYP), and developmental delay (DD). Method Children with ASD, DD, and TYP between 2 and 5 years old were part of the CHARGE study. Pediatric specialists blinded to group classified photographs based on the number of MPAs present: “dysmorphic” if >3 and “nondysmorphic” if <3 MPAs. Results Photographs for 324 children were included. Significantly more children with ASD were classified as dysmorphic compared to TYP children (p=0.007). In children with ASD, seizures were more prevalent in those rated “dysmorphic” (p=0.005). Frequencies were similar between ASD versus DD (p=0.19) after removing those with known syndromes. Conclusion Photographic assessment can be used to detect generalized dysmorphology in children who are often difficult to examine. This has clinical relevance, as children with multiple MPAs can be identified through the use of photographs and prioritized for investigation of brain abnormalities and underlying genetic conditions.

Compound Heterozygous CORO1A Mutations in Siblings with a Mucocutaneous-Immunodeficiency Syndrome of Epidermodysplasia Verruciformis-HPV, Molluscum Contagiosum and Granulomatous Tuberculoid Leprosy

“…KCTD13 gene is the strongest candidate, since deletions and duplications of this gene cause macrocephaly and microcephaly in mice, resembling the human del16p11.2 and dup16p11.2 phenotype and persons with del16p11.2 with the reciprocal dup16p11.2 do have mild dysmorphic facial features [29, 93, 94]. Coronin-1A is highly expressed in microglia in the brain and may also play an instrument in the neurocognitive orchestration reflected by the dynamic properties of microglia [95].…”

“Selfish Spermatogonial Selection”: A Novel Mechanism for the Association Between Advanced Paternal Age and Neurodevelopmental Disorders

“…It has long been established that minor physical anomalies are more prevalent in schizophrenia (54) and autism (55). …”

Clinical versus automated assessments of morphological variants in twins with and without neurodevelopmental disorders

“…Previous studies exploring morphological variants in individuals with NDDs have primarily focused on in‐person clinical assessments that spanned the entire body from head to toe (Accardo, Tomazic, Morrow, Haake, & Whitman, ; Angkustsiri et al, ; Manouilenko, Eriksson, Humble, & Bejerot, ; Minahim & Rohde, ; Myers et al, ; Ozgen et al, ; Ozgen et al, ; Tammimies et al, ; Tripi et al, ). However, it has been said that “the face predicts the brain” (Demyer, Zeman, & Palmer, ) and both the face and brain are developing simultaneously in utero (Marcucio et al, ).…”

“…Despite efforts to identify NDDs earlier with behavioral screening measures, studies continue to demonstrate children often receive delayed diagnoses (Fridman, Banaschewski, Sikirica, Quintero, & Chen, ; Miodovnik, Harstad, Sideridis, & Huntington, ; Zuckerman, Lindly, & Sinche, ). Subsequently, researchers have explored different types and amounts of morphological variants as a tool for possibly detecting NDDs earlier, particularly for ASD and ADHD (e.g., Angkustsiri et al, ; Miles et al, ; Minahim & Rohde, ; Ozgen et al, ; Ozgen et al, ; Ozgen et al, ).…”