"BottegaMente": An Italian program of internship for people with autism spectrum disorder.

Background: Transitioning into adulthood can be challenging for individuals with Autism Spectrum Disorder (ASD). Work is one of the most enduring and impactful aspects of adult life, as it plays a key role in helping people find meaning. However, research on the effectiveness of pre-employment programs in improving the health and well-being of autistic adolescents and young adults remains limited.

Characterizing individual differences in children and adolescents with autism spectrum disorder: a descriptive study.

Introduction: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by a higher prevalence in male than in female participants. Recent studies have hypothesized the presence of different phenotypes in male and female participants with ASD. The present study aims to assess possible sex differences in cognitive and adaptive functioning, symptomatology of ASD, and psychopathological comorbidities in a large sample of children and adolescents with ASD.

Differences and Similarities in Adaptive Functioning between Children with Autism Spectrum Disorder and Williams-Beuren Syndrome: A Longitudinal Study.

Background: The last decade has seen a growing number of comparative studies on adaptive profiles between individuals with autism spectrum disorder (ASD) and Williams-Beuren syndrome (WBS), showing shared and syndrome-specific adaptive trajectories. Studies have revealed similarities in global adaptive profiles across conditions, while some differences have been found in preschoolers on the specific sub-domains of communication and socialization. However, the majority of studies that have focused on the differences in adaptive functioning across these two conditions used a cross-sectional design.

A Comparison of Adaptive Functioning Between Children With Duplication 7 Syndrome and Williams-Beuren Syndrome: A Pilot Investigation.

Interstitial deletions of 7q11.23 cause the well-known Williams-Beuren Syndrome (WBS), while duplication of the same region leads to duplication 7 syndrome (Dup7). Children with WBS share a distinct neurobehavioral phenotype including mild to severe intellectual disability, severely impaired visual spatial abilities, relatively preserved verbal expressive skills, anxiety problems, enhanced social motivation (i.

Cooperative Parent-Mediated Therapy in Children with Fragile X Syndrome and Williams Beuren Syndrome: A Pilot RCT Study of a Transdiagnostic Intervention-Preliminary Data.

Children with fragile X syndrome and William Beuren syndrome share several socio-communicative deficits. In both populations, around 30/35% of individuals meets criteria for autism spectrum disorder on gold standard instruments. Notwithstanding, few studies have explored feasibility and validity of therapy for socio-communicative deficits in individuals with these genetic conditions.

Clinical and individual features associated with maternal stress in young adolescents with autism spectrum disorder.

Parents of people with autism spectrum disorder experience both negative stressful and positive events. Several clinical and socio-demographic features of children on the autism spectrum have been associated with parenting stress in their families. However, there have been few studies that focus on adolescents and the role of cognitive impairment has rarely been addressed.

Comparison of Adaptive Functioning in Children with Williams Beuren Syndrome and Autism Spectrum Disorder: A Cross-Syndrome Study.

Williams Beuren syndrome (WBS) and autism spectrum disorder (ASD) have been long considered as "polar opposite" disorders. Although children with WBS appears to be hypersociable, recent researches have revealed difficulties in socio-communicative skills such as shared attention, showing or giving objects, social relationships comprehension, pragmatic use of language, and emotion's recognition. The aim of this cross-syndrome study is to compare clinician-report adaptive profiles of two wide developmental range children by means of Vineland Adaptive Behavior Scales-Interview Edition, Survey Form.

7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling.

7q11.23 Microduplication (dup7q11.23) syndrome is a rare autosomal dominant disorder due to a recurring 1.

Further insight into the neurobehavioral pattern of children carrying the 2p16.3 heterozygous deletion involving NRXN1: Report of five new cases.

Increasing evidence links heterozygosity for NRXN1 gene deletions to a clinically wide spectrum of neurodevelopmental, psychiatric, and neurological disorders. However, to date, the neurocognitive and social communication features of children carrying this genomic rearrangement have not been assessed in detail. The cognitive and behavioral profiles of five children carrying a heterozygous NRXN1 deletion were investigated through systematic assessment of the cognitive and developmental levels, adaptive profile and presence of behavioral symptoms and autistic features.

TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics.

Tubulinopathies are rare neurological disorders caused by alterations in tubulin structure and function, giving rise to a wide range of brain abnormalities involving neuronal proliferation, migration, differentiation and axon guidance. TUBB is one of the ten β-tubulin encoding genes present in the human genome and is broadly expressed in the developing central nervous system and the skin. Mutations in TUBB are responsible for two distinct pathological conditions: the first is characterized by microcephaly and complex structural brain malformations and the second, also known as "circumferential skin creases Kunze type" (CSC-KT), is associated to neurological features, excess skin folding and growth retardation.