Incidence of minor physical anomaly in autism

Abstract

Children diagnosed as autistic were matched by age and sex with 74 control subjects and examined for presence of minor physical anomalies. Of the 16 anomalies scored, autistic children demonstrated a significant accumulation greater than the number exhibited by normal children. Three of the stigmata--low seating of ears, hypertelorism, and syndactylia--were expressed differentially in the two groups, and high palate as well as unusual cranial circumference were significantly high in both groups. Clusters of stigmata that might be associated with known chromosomal disorders could not be identified. The increased number of anomalies suggests that among autistic children such congenital markers indicate a deviant intrauterine experience.

Autism following a history of newborn encephalopathy: more than a coincidence?

“…Many of the features identified in association with NE have also been described as risk factors for ASDs. These include bleeding during pregnancy (Gillberg and Gillberg 1983, Adamson et al 1995, Badawi et al 1998a, Glasson et al 2004); viral illness (Deykin andMacMahon 1979, Badawi et al 1998a); birth defects (Walker 1977, Felix et al 2000; male sex (Deykin and MacMahon 1980, Badawi et al 1998a, Fombonne 1999; postmaturity Gillberg 1983, Badawi et al 1998a); older maternal age Gillberg 1983, Badawi et al 1998a); and abnormal presentation in labour (Badawi et al 1998b, Levy et al 1988. We acknowledge that a significant contribution to the differences described in Table IV between infants with NE and ASD and controls is related to the clustering of risk factors for NE itself (i.e.…”

Minor physical anomalies in autism: a meta-analysis

“…In two studies only boys were included, 60,62 and three studies had mixed ethnicities. [58][59][60] Three studies used siblings as their control group; 5,58,60 four of the seven selected studies were conducted in the United States, 58,59,62,63 two were carried out in Canada 60,61 and one in the United Kingdom. 5 The main characteristics of the studies are listed in Table 1.…”

Environmental Factors in the Aetiology of Autism – Lessons from Animals Prenatally Exposed to Valproic Acid

“…Dysmorphic facial features and increased occipitofrontal circumference reported in most cases of idiopathic autism (not co-morbid with the known genetic disorder) can not be induced postnatally, and most of the reported minor anomalies must have originated from the first eight weeks post-conception (e.g., (Miles & Hillman, 2000;Rodier et al, 1997a;Walker, 1977). For example, Rodier and colleagues (1997a) described minor physical malformations linked to autism in a population in Nova Scotia, Canada.…”

“…Importantly, ear malformations (Walker, 1977), eye motility problems (Scharre & Creedon, 1992), and Möbius syndrome (Gillberg & Steffenburg, 1989) had previously been associated with autism. In fact, external ear malformations are the most common physical abnormality observed in autism and the ones which best distinguish between autism and mental retardation (Rodier et al, 1997a;Walker, 1977). What makes the thalidomide cases so informative is that the external signs of thalidomide teratogeny allow accurate dating of the stages of development when exposure to the teratogen took place (Miller, 1991).…”