Focusing on autism spectrum disorder in xia–gibbs syndrome: Description of a female with high functioning autism and literature review

Background: Xia–Gibbs syndrome (XGS) is a rare disorder caused by de novo mutations in the AT-Hook DNA binding motif Containing 1 (AHDC1) gene, which is characterised by a wide spectrum of clinical manifestations, including global developmental delay, intellectual disability, structural abnormalities of the brain, global hypotonia, feeding problems, sleep difficulties and apnoea, facial dysmorphisms, and short stature. Methods: Here, we report on a girl patient who shows a peculiar cognitive and behavioural profile including high-functioning autism spectrum disorder (ASD) without intellectual disability and provide information on her developmental trajectory with the aim of expanding knowledge of the XGS clinical spectrum. On the basis of the current clinical case and the literature review, we also attempt to deepen understanding of behavioural and psychiatric manifestations associated with XGS. Results: In addition to the patient we described, a considerable rate of individuals with XGS display autistic symptoms or have been diagnosed with an autistic spectrum disorder. Moreover, the analysis of the few psychopathological profiles of patients with XGS described in the literature shows a frequent presence of aggressive and self-injurious behaviours that could be either an expression of autistic functioning or an additional symptom of the ASD evolution. A careful investigation of the abovementioned symptoms is therefore required, since they could represent a “red flag” for ASD

A new device used in the restoration of kinematics after total facet arthroplasty

Facet degeneration can lead to spinal stenosis and instability, and often requires stabilization. Interbody fusion is commonly performed, but it can lead to adjacent-segment disease. Dynamic posterior stabilization was performed using a total facet arthroplasty system. The total facet arthroplasty system was originally intended to restore the natural motion of the posterior stabilizers, but follow-up studies are lacking due to limited clinical use. We studied the first 14 cases (long-term follow-up) treated with this new device in our clinic. All patients were diagnosed with lumbar stenosis due to hypertrophy of the articular facets on one to three levels (maximum). Disk space was of normal height. The design of this implant allows its use only at levels L3-L4 and L4-L5. We implanted nine patients at the L4-L5 level and four patients at level L3-L4. Postoperative follow-up of the patients was obtained for an average of 3.7 years. All patients reported persistent improvement of symptoms, visual analog scale score, and Oswestry Disability Index score. Functional scores and dynamic radiographic imaging demonstrated the functional efficacy of this new implant, which represents an alternative technique and a new approach to dynamic stabilization of the vertebral column after interventions for spine decompression. The total facet arthroplasty system represents a viable option for dynamic posterior stabilization after spinal decompression. For the observed follow-up, it preserved motion without significant complications or apparent intradisk or adjacent-disk degeneration. © 2014 Vermesan et al

Evaluation of chromosome microarray analysis in a large cohort of females with autism spectrum disorders: A single center Italian study

Autism spectrum disorders (ASD) encompass a heterogeneous group of neurodevelopmental disorders resulting from the complex interaction between genetic and environmental factors. Thanks to the chromosome microarray analysis (CMA) in clinical practice, the accurate identification and characterization of submicroscopic deletions/duplications (copy number variants, CNVs) associated with ASD was made possible. However, the widely acknowledged excess of males on the autism spectrum reflects on a paucity of CMA studies specifically focused on females with ASD (f-ASD). In this framework, we aim to evaluate the frequency of causative CNVs in a single-center cohort of idiopathic f-ASD. Among the 90 f-ASD analyzed, we found 20 patients with one or two potentially pathogenic CNVs, including those previously associated with ASD (located at 16p13.2 16p11.2, 15q11.2, and 22q11.21 regions). An exploratory genotype/phenotype analysis revealed that the f-ASD with causative CNVs had statistically significantly lower restrictive and repetitive behaviors than those without CNVs or with non-causative CNVs. Future work should focus on further understanding of f-ASD genetic underpinnings, taking advantage of next-generation sequencing technologies, with the ultimate goal of contributing to precision medicine in ASD

Genetic Factors Involved in the Effects of Developmental Low-Level Alcohol Induced Behavioral Alterations in Rats

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Ultrasonic vocalization in rodents: a new potential tool for detecting emotional and motivational changes produced by adverse treatments

Several experimental models for studying emotion and motivation in laboratory animals have been developed in these last years. A new interesting approach for evaluating some emotional and motivational states in rodents is represented by the measurement of ultrasonic emission in various situations, mainly: by infants when removed from the nest and apparently under stress, cold and/or hunger; during sexual behaviour; during aggressive encounters; in response to aversive stimuli. The calls differ somewhat in their physical characteristics depending on the species and on the situation. Examples of ultrasonic emissions which could be valuable as bioassays in Behavioural Toxicology are described here together with what is known of the biological function of the call

Misure e analisi dell’esclusione sociale in Europa

Il lavoro propone una misura del'esclusione sociale nelle 260 regioni dell'Unione Europea, indicate dalla normativa comunitaria come “Nuts 2” , appartenenti a venticinque paesi (gli stati membri dell’Unione, ad eccezione di Cipro e Malta, più Romania e Bulgaria). L’analisi è svolta nelle dimensioni della disoccupazione, dell’istruzione e della salute, allo scopo di disegnare un quadro del rischio di esclusione sociale nelle regioni oggetto di studio, sulla base delle informazioni pubblicate da Eurostat. L'analisi ha permesso di identificare alcune aree nelle quali si annidano più che altrove situazioni di disagio sociale, in assoluto o solo in relazione ad alcune dimensioni della vita sociale