Ricerc@Sapienza

Little is known about the interactions of families where there is a child with autism spectrum disorder (ASD). The present study applies the Lausanne Trilogue Play (LTP) to explore both its applicability to this population as well as to assess resources and areas of deficit in these families. The sample consisted of 68 families with a child with ASD, and 43 families with a typically developing (TD) child.

The association between hyperacusis and developmental disorders such as autism spectrum disorders has been extensively reported in the literature; however, the specific prevalence of hyperacusis in attention deficit hyperactivity disorder (ADHD) has never been investigated. In this preliminary study, we evaluated the presence of hyperacusis in a small sample of children affected by ADHD compared to a control group of healthy children. Thirty normal hearing children with a diagnosis of ADHD and 30 children matched for sex and age were enrolled in the study.

Background:
The effects of having a child with Autism Spectrum Disorder (ASD) on parents are multifaceted and pervasive. While ample
evidence has been provided that these families are under severe stress, there are still several knowledge gaps and unresolved
questions.
Objective:
This study aimed at quantifying the subjective and objective burden of ASD in mothers and fathers, and at improving the
understanding of the interplay between parental burden, child’s characteristics, and parents’ coping resources and strategies.
Methods:

Thyroid hormones are important for the development of the central nervous system. Since the fetal thyroid gland is not functioning until mid-gestation, transport of maternal thyroid hormones across the placenta is essential during the early phases of gestation. Maternal thyroid deficiency has been associated with a higher incidence of neurodevelopmental disorders in the newborns. The relationship between maternal hypothyroidism and the onset of autism spectrum disorders (ASD) in the offspring, however, is still debated.

An increasing number of rare mutations linked to autism spectrum disorders have been reported in genes encoding for proteins involved in synapse formation and maintenance, such as the post-synaptic cell adhesion proteins neuroligins. Most of the autism-linked mutations in the neuroligin genes map on the extracellular protein domain. The autism-linked substitution R451C in Neuroligin3 (NLGN3) induces a local misfolding of the extracellular domain, causing defective trafficking and retention of the mutant protein in the endoplasmic reticulum (ER).

Autism spectrum disorders (ASDs) comprise a heterogeneous group of disorders with a complex genetic etiology. Current theories on the pathogenesis of ASDs suggest that they might arise from an aberrant synaptic transmission affecting specific brain circuits and synapses. The striatum, which is part of the basal ganglia circuit, is one of the brain regions involved in ASDs. Mouse models of ASDs have provided evidence for an imbalance between excitatory and inhibitory neurotransmission.

Background and Aims. Recent evidence implicates gut microbiota
(GM) and immune alterations in autism spectrum disorders (ASD). We assess
GM profile and peripheral levels of immunological, neuronal and bacterial
molecules in ASD children and controls. Alarmin HMGB1 was explored as a
non-invasive biomarker to monitor gastrointestinal (GI) symptoms.
Methods.Thirty ASD children and 14 controls entered into the study. GM
metagenomic analysis was performed for 16 ASD patients and 7 controls. GM