Autism and Intellectual Disability Are Differentially Related to Sociodemographic Background at Birth

Background: Research findings investigating the sociodemographics of autism spectrum disorder (ASD) have been inconsistent and rarely considered the presence of intellectual disability (ID). Methods: We used population data on Western Australian singletons born from 1984 to 1999 (n = 398,353) to examine the sociodemographic characteristics of children diagnosed with ASD with or without ID, or ID without ASD compared with non-affected children. Results: The profiles for the four categories examined, mild-moderate ID, severe ID, ASD without ID and ASD with ID varied considerably and we often identified a gradient effect where the risk factors for mild-moderate ID and ASD without ID were at opposite extremes while those for ASD with ID were intermediary. This was demonstrated clearly with increased odds of ASD without ID amongst older mothers aged 35 years and over (odds ratio (OR) = 1.69 [CI: 1.18, 2.43]), first born infants (OR = 2.78; [CI: 1.67, 4.54]), male infants (OR = 6.57 [CI: 4.87, 8.87]) and increasing socioeconomic advantage. In contrast, mild-moderate ID was associated with younger mothers aged less than 20 years (OR = 1.88 [CI: 1.57, 2.25]), paternal age greater than 40 years (OR = 1.59 [CI: 1.36, 1.86]), Australian-born and Aboriginal mothers (OR = 1.60 [CI: 1.41, 1.82]), increasing birth order and increasing social disadvantage (OR = 2.56 [CI: 2.27, 2.97]). Mothers of infants residing in regional or remote areas had consistently lower risk of ASD or ID and may be linked to reduced access to services or underascertainment rather than a protective effect of location. Conclusions: The different risk profiles observed between groups may be related to aetiological differences or ascertainment factors or both. Untangling these pathways is challenging but an urgent public health priority in view of the supposed autism epidemic

Extensa falha cutânea e craniana em paciente com aplasia cutis congenita Large scalp and skull defect in patient with aplasia cutis congenita

Aplasia cutis congenita (ACC) é doença rara, caracterizada pela ausência de formação completa da pele. Geralmente ocorre no couro cabeludo, na linha mediana, e apresenta-se ao nascimento como uma ferida ulcerada que pode atingir diferentes profundidades e envolver o periósteo, crânio e dura-máter. Descrevemos o caso de menina recem-nascida que apresentava fácies dismórfica com defeito no couro cabeludo que abrangia a quase totalidade da abóbada craniana e apresentava falha óssea desde a base dos ossos frontais até os occipitais e mastóides. A dura-máter estava em sua maior parte exposta, sem sinais de fissuras. Devido à raridade da ACC e ao pequeno número de pacientes nas séries publicadas na literatura a padronização do tratamento ainda é incipiente. O que existem são recomendações. Ainda são necessários estudos que abordem desde a etiologia da doença até a avaliação dos métodos de tratamento e evolução de grupos maiores de pacientes.<br>Aplasia cutis congenita is a rare condition characterized by the absence of skin layers. It is most common on the scalp, middle line, and it can be seen as a congenital ulcer involving periosteum, skull and dura. We present the case of a female newborn infant with a dysmorphic facies, a large scalp and skull defect exposing the dura. There was no cerebrospinal fluid leakage. The rarity of cases with large defects and small series reported make difficult to determinate the ideal treatment for aplasia cutis congenita. More studies are necessary to define the etiology and best management of this patients