First described by Andreas Rett in 1966, Rett syndrome is a severe neurodevelopmental disorder which almost exclusively aVects females. A genetic aetiology was suggested by MZ twin concordance and a case of vertical transmission of the disorder. Although the prevalence is between 1 in 10 000 and 1 in 15 000 female births, >95% of cases arise de novo so the disorder has been considered to be an ...

Changes have been made to the diagnostic criteria for autism spectrum disorder (ASD) in the recent revision of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5), and similar changes are likely in the WHO International Classification of Diseases (ICD-11) due in 2017. In light of these changes, a new clinical disorder, social (pragmatic) communication disorder (SPCD), was added to...

We report on a young boy with neurodevelopmental disorder who is carrier of novel frameshift mutation in gene MAP7D3 (MAP7 domain containing 3) Xq26.3. The protein encoded by this belongs to the MAP7 (microtubuleassociated 7) family that proposed regulate kinesin-1 (KIF5B)-dependent intracellular transport, acting as Microtubule (MT)-tethered recruitment factors and activators kinesin [1-3]. An...

The major mental disorders, schizophrenia and bipolar disorder are substantially heritable. Recent genomic studies have identified a small number of common and rare risk genes contributing to both disorders and support epidemiological evidence that genetic susceptibility overlaps between them. Prompted by the question of whether risk genes cluster in specific molecular pathways or implicate dis...

A baby is dependent on its primary caregiver (hereafter referred to as 'mother') for its emotional regulation. The development of emotional self-regulation is dependent on the growth and myelinisation of connections between cortical (control) and limbic (emotion) structures in the infant brain. The subcortical sympathetic limbic system is dominant from birth, and it is only at 14-18 months of a...

AGAP1 is an Arf1 GTPase activating protein that interacts with the vesicle-associated protein complexes adaptor protein 3 (AP-3) and Biogenesis of Lysosome Related Organelles Complex-1 (BLOC-1). Overexpression of AGAP1 in non-neuronal cells results in an accumulation of endosomal cargoes, which suggests a role in endosome-dependent traffic. In addition, AGAP1 is a candidate susceptibility gene ...

BACKGROUND Reliable and easy to administer screening instruments focusing on neurodevelopmental disorders and associated conditions are scarce. The Autism-Tics, AD/HD and other Comorbidities inventory (A-TAC) has previously been validated and reporting good- excellent validity for several disorders. This article aims to expand these findings by including more conditions in a substantially large...

INTRODUCTION It is well established that individuals exposed to alcohol in utero have reduced cortical grey matter volumes. However, the candidate determinants of these reductions, cortical thickness (CT) and surface area (SA), have not been investigated exclusively in alcohol-related neurodevelopmental disorder (ARND), the most prevalent fetal alcohol spectrum disorder subgroup that lacks the ...

Bipolar disorder (BD) is a chronic illness with high morbidity and mortality. Pediatric onset BD has a more severe course of illness with higher rates of relapse and psychosocial impairment. Discovering interventions early in the course of BD in youth is paramount to preventing full illness expression and improve functioning in these individuals throughout the lifespan. It is therefore importan...

Neurodevelopmental disorders represent a broad class of childhood neurological conditions that have a significant bearing on the wellbeing of children, families, and communities. In this review, we draw on evidence from two common and widely studied neurodevelopmental disorders-autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD)-to demonstrate the utility of genet...