Search

Social impairments in autism spectrum disorder are related to maternal immune history profile

this study is the first to show an association between immune activation history in the mother and increased ASD symptom severity in children with ASD

A prospective study of fetal head growth, autistic traits and autism spectrum disorder

This large population-based study identified no consistent association across two cohorts between prenatal head growth and postnatal autistic traits

Prenatal maternal stress events and phenotypic outcomes in Autism Spectrum Disorder

ASD, in the context of prenatal maternal stress exposure, may be associated with a more severe phenotype, particularly when there are multiple prenatal exposures

Investigating facial phenotype in autism spectrum conditions: The importance of a hypothesis driven approach

The identification of differences in the facial phenotype of individuals with ASC may contribute to efforts to promote early identification of the condition and help elucidate etiological pathways.

Relationship between early motor milestones and severity of restricted and repetitive behaviors in children and adolescents with autism spectrum disorder

This study provides the first evidence for the association between restricted and repetitive behaviors and age of attainment of early motor milestones.

Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study

Our aims were to characterize the abnormal breathing patterns and abdominal bloating, investigate the distribution of these by age and mutation type and examine their impact and management from a caregiver perspective.

Parental perspectives on the communication abilities of their daughters with Rett syndrome

How females with Rett syndrome communicate in everyday life and the barriers and facilitators to successful communication

Expanding the clinical picture of the MECP2 Duplication syndrome

Perinatal characteristics, early childhood development and medical co-morbidities in MECP2 Duplication syndrome

Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome

This study investigates relationships between methyl-CpG-binding protein 2 gene (MECP2) mutation type and speech-language abilities in girls with Rett syndrome.

There is variability in the attainment of developmental milestones in the CDKL5 disorder

Individuals with the CDKL5 disorder have been described as having severely impaired development.