Behavioral phenotype and autism spectrum disorders in Cornelia de Lange syndrome

Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by distinctive facial features, growth retardation, limb abnormalities, intellectual disability, and behavioral problems. Cornelia de Lange syndrome is associated with abnormalities on chromosomes 5, 10 and X. Heterozygous point mutations in three genes (NIPBL, SMC3 and SMC1A), are responsible for approximately 50-60% of CdLS cases. CdLS is characterized by autistic features, notably excessive repetitive behaviors and expressive language deficits. The prevalence of autism spectrum disorder (ASD) symptomatology is comparatively high in CdLS. However, the profile and developmental trajectories of these ASD characteristics are potentially different to those observed in individuals with idiopathic ASD. A significantly higher prevalence of self-injury are evident in CdLS. Selfinjury was associated with repetitive and impulsive behavior. This study describes the behavioral phenotype of four children with Cornelia de Lange syndrome and ASDs and rehabilitative intervention that must be implemented

The child with Autism Spectrum Disorders (ASDS): Behavioral and neurobiological aspects

Introduction: The Autism Spectrum Disorders (ASDs) have onset in the first years of life and are characterized clinically by qualitative impairments in social interaction, communication and a restricted repertoire, stereotyped and repetitive interests and activities. Currently there is a medical consensus on the causes of autism: they should not be psychosocial but should be based in biology, especially in the central nervous system abnormalities caused by both inherited and environmental causes. The aim of this study was to study a sample of subjects with Autism Spectrum Disorders (ASDs) with a wide protocol, including neurophysiological and radiological investigations as well as laboratory investigations in order to investigate the neurobiologic basis of the syndrome. Methods: The patients group included 34 subjects diagnosed as having ASDs. All were examined with a protocol of investigations (brain MRI; EEG; VEP, ABR; karyotype; evaluation of brain metabolites; antibodies against neurotrophic agents). In order to evaluate and identify the presence and intensity of autistic symptoms have been used the CARS (Childhood Autism Rating Scale) and ADOS (Autism Diagnostic Observation Schedule) tools. Results and Conclusion. Ninety percent of the subjects had at least one parameter neurobiological disease, the fifty-nine percent have a specific genetic syndrome. This study highlights the different noxae involved in the etiopathogenesis of AD and the percentage that every biological factor has in the development of the autistic phenotype. This study confirms the hypothesis that autism spectrum disorders (ASDs) are a severe neuropsychiatric diseases with strong genetic basis

Autism spectrum disorder in Kabuki syndrome: clinical, diagnostic and rehabilitative aspects assessed through the presentation of three cases

Kabuki syndrome (KS) (Kabuki make-up syndrome, Niikawa-Kuroki syndrome) is a rare genetic disorder first diagnosed in 1981. Kabuki make-up syndrome (KMS) is a multiple malformation/intellectual disability syndrome that was first described in Japan but is now reported in many other ethnic groups. KMS is characterized by multiple congenital abnormalities: craniofacial, skeletal, and dermatoglyphic abnormalities; intellectual disability; and short stature. Other findings may include: congenital heart defects, genitourinary anomalies, cleft lip and/or palate, gastrointestinal anomalies including anal atresia, ptosis and strabismus, and widely spaced teeth and hypodontia. The KS is associated with mutations in the MLL2 gene in some cases were also observed deletions of KDM6A. This study describes three children with autism spectrum disorders (ASDs) and KS and rehabilitative intervention that must be implemented

The Paths of Mental Health: The Effects of Co-Detention on Children's Development

This article offers a descriptive analysis of the co-detention phenomenon in the Italian context. Our aim is to focus on the process of keeping children in prison with their detained parental figures and to analyse the environmental conditions in the prison context. The paper describes, in particular, contextual risk factors from the child’s psycho-social development (as well as resilience variables) which are connected to a stay in prison. This analysis is aimed at a multi-dimensional perspective of the concept of risk, related to the phenomenon of co-detention, and as a means to identify different developmental paths. Moreover, it describes certain guidelines on how to structure primary prevention programs to assess and contain the risk of psychopathology and neuropsychiatric conditions in children, as well as in adults

Optical coherence tomography in Alzheimer's disease. A meta-analysis

BACKGROUND: Alzheimer's disease (AD) is a neurodegenerative disorder, which is likely to start as mild cognitive impairment (MCI) several years before the its full-blown clinical manifestation. Optical coherence tomography (OCT) has been used to detect a loss in peripapillary retina nerve fiber layer (RNFL) and a reduction in macular thickness and volume of people affected by MCI or AD. Here, we performed an aggregate meta-analysis combining results from different studies. METHODS AND FINDINGS: Data sources were case-control studies published between January 2001 and August 2014 (identified through PubMed and Google Scholar databases) that examined the RNFL thickness by means of OCT in AD and MCI patients compared with cognitively healthy controls. RESULTS: 11 studies were identified, including 380 patients with AD, 68 with MCI and 293 healthy controls (HC). The studies suggest that the mean RNFL thickness is reduced in MCI (weighted mean differences in μm, WMD = -13.39, 95% CI: -17.34 to -9.45, p = 0.031) and, even more so, in AD (WMD = -15.95, 95% CI: -21.65 to -10.21, p<0.0001) patients compared to HC. RNFL in the 4 quadrants were all significantly thinner in AD superior (superior WMD = -24.0, 95% CI: -34.9 to -13.1, p<0.0001; inferior WMD = -20.8, 95% CI: -32.0 to -9.7, p<0.0001; nasal WMD = -14.7, 95% CI: -23.9 to -5.5, p<0.0001; and temporal WMD = -10.7, 95% CI: -19.9 to -1.4, p<0.0001); the same significant reduction in quadrant RNFL was observed in MCI patients compared with HC (Inferior WMD = -20.22, 95% CI: -30.41 to -10.03, p = 0.0001; nasal WMD = -7.4, 95% CI: -10.08 to -4.7, p = 0.0000; and temporal WMD = -6.88, 95% CI: -12.62 to -1.13, p = 0.01), with the exception of superior quadrant (WMD = -19.45, 95% CI: -40.23 to 1.32, p = 0.06). CONCLUSION: Results from the meta-analysis support the important role of OCT for RNFL analysis in monitoring the progression of AD and in assessing the effectiveness of purported AD treatments

Noli Me Tangere: Social Touch, Tactile Defensiveness, and Communication in Neurodevelopmental Disorders

Abstract: Tactile defensiveness is a common feature in neurodevelopmental disorders (NDDs). Since the first studies, tactile defensiveness has been described as the result of an abnormal response to sensory stimulation. Moreover, it has been studied how the tactile system is closely linked to socio-communicative development and how the interoceptive sensory system supports both a discriminating touch and an aective touch. Therefore, several neurophysiological studies have been conducted to investigate the neurobiological basis of the development and functioning of the tactile system for a better understanding of the tactile defensiveness behavior and the social touch of NDDs. Given the lack of recent literature on tactile defensiveness, the current study provides a brief overview of the original contributions on this research topic in children with NDDs focusing attention on how this behavior has been considered over the years in the clinical setting

The Role of Guilt and Empathy on Prosocial Behavior

Research on the effects of guilt on interpersonal relationships has shown that guilt frequently motivates prosocial behavior in dyadic social situations. When multiple persons are involved, however, this emotion can be disadvantageous for other people in the social environment. Two experiments were carried out to examine the effect of guilt and empathy on prosocial behavior in a context in which more than two people are involved. Experiment 1 investigates whether, in three-person situations, guilt motivates prosocial behavior with beneficial effects for the victim of one\u2019s actions but disadvantageous effects for the third individual. Participants were faced with a social dilemma in which they could choose to take action that would benefit themselves, the victim, or the other individual. The findings show that guilt produces disadvantageous side effects for the third individual person present without negatively affecting the transgressor\u2019s interest. In Experiment 2, participants were faced with a social dilemma in which they could act to benefit themselves, the victim, or a third person for whom they were induced to feel empathic concern. Again, the results show that guilt generates advantages for the victim but, in this case, at the expense of the transgressor and not at the expense of the third person, for whom they were induced to feel empathic concern. Therefore, guilt and empathy seem to limit the transgressor\u2019s interest. The theoretical implications are discussed