EPS8-A NEW ITALIAN CONTRIBUTION TO THE UNDERSTANDING OF GENETIC MECHANISMS UNDERLYING NEURODEVELOPMENTAL DISORDERS

 A new finding by the Institute of Neurosciences of the CNR and Humanitas allows to deepen the molecular mechanisms underlying the cognitive dysfunctions of intellectual disability and autism.

PRESENCE OF SCHIZOPHRENIA OR BIPOLAR DISORDERS IN PARENTS OR FIRST DEGREE RELATIVES AS A RISK FACTOR FOR AUTISM

The clinical and etiological relationship between autism spectrum disorder (ASD), schizophrenia, and bipolar disorder is not clear. The extent to which they share causal bases has important implications for clinicians, researchers, and for the people suffering from these disorders.

NEW BIOLOGICAL MARKER FOR EARLY DIAGNOSIS OF AUTISM SPECTRUM DISORDER

The autonomic nervous system seems increasingly able to reveal early our characteristics and our psychic vulnerabilities: the pupillary light reflex and alpha-amylase secretion in saliva have recently been indicated as potential indicators of autistic disorder since the twentieth month of life.

USE OF PSYCHOACTIVE DRUGS IN ADULTS WITH INTELLECTUAL DISABILITY: ENCOURAGING RESULTS FROM A RECENT AMERICAN STUDY

The results of a recent large-scale American research seem to indicate a new encouraging tendency to prescribe psychotropic drugs to people with intellectual disabilities more carefully and on the basis of precise diagnostic frameworks.

STATE OF THE ART RESEARCH ON GENETIC SYNDROMES IN SOCIAL PHENOTYPES INCLUDING INTELLECTUAL AND RELATIONAL DISABILITY

In the last 15 years social and cognitive behaviors are occupying a prominent place in the study of behavioral phenotypes in genetic syndromes. The main difficulties in acquiring new knowledge seem to be linked to the difficulties of differential diagnosis between intellectual disability and autism.

THE QUALITY OF LIFE AS A MEASURE OF EFFECTIVENESS OF PHARMACOLOGICAL INTERVENTION IN AUTISM SPECTRUM DISORDERS

Though Quality of Life is increasingly being considered as a main theoretical reference for interventions on Autism Spectrum Disorders, it seems not be highly regarded in research on pharmacological intervention. Since the important implications that QoL assessment may have for resource allocation in healthcare, it is to be hoped that current state of research will rapidly improve.

THE EXPERIENCE OF THE PATIENT, THE QUALITY OF CARE AND THE QUALITY OF LIFE: WHAT IS THE RELATIONSHIP?

Do patients'reports of their health care experiences reflect the quality of care? Measures of quality of health care interventions are influenced by more general feeling of well-being and quality of life, which in turn depend on a variety of biological, psychological and relational factors. For this reason, many medical studies on patient-centered outcome measures are increasingly recognizing the importance of integrating the views of the patient with those of its proxies.

ADHD AND BIPOLAR DISORDER IN ADULTS: COMORBIDITY AND DIFFERENTIAL DIAGNOSIS

In adulthood Attention Deficit  Disorder and Hyperactivity is frequently associated with dysregulation of emotions, particularly in people with intellectual disabilities. Are these variations in clinical expression, comorbidity or differential diagnosis?

PAIN IN PEOPLE WITH INTELLECTUAL DISABILITY / INTELLECTUAL DEVELOPMENTAL DISORDER

In people with Intellectual Developmental Disorder pain is often expressed in a peculiar way and has specific risk factors. Research has been making significant contributions in recent years. 

THE ROLE OF ATTENTION IN THE EMOTIONAL LIFE OF PEOPLE WITH SEVERE OR PROFOUND INTELLECTUAL DISABILITIES

A group of researchers at the University of Leuven in Belgium has recently studied attentive responses to emotional stimuli in people with severe and profound Intellectual Disability. The results were different from those expected.

POLYMORPHISM OF NMDA RECEPTOR SUBUNITS: NEW EVIDENCE OF NEUROTRAMSMITTER DYSREGULATION COMMON TO INTELLECTUAL DISABILITY, AUTISM, AND SCHIZOPHRENIA - PART TWO

Polymorphisms of the subunits of the NMDA receptor (N-methyl-D-aspartate) seem to determine alteration of the cortical activity linked to basic cognitive functions. It is to hope that this may represent a new biological marker to be used in the near future for preclinical screening and tailored therapies across neurodevelopmental disorders.

PREVALENCE, ASSOCIATED FACTORS AND TREATMENT OF SLEEP DISORDERS IN ADULTS WITH INTELLECTUAL DISABILITY: A REVIEW OF THE LITERATURE

In people with intellectual disability, sleep disorders are very frequent. What factors have been considered to explain such a high prevalence? Are these disorders underpinned by wider psychiatric disorders?

PSYCHIATRIC COMORBIDITY OF AUTISM SPECTRUM DISORDERS: HOW TO ASSESS?

In some cases, symptoms and dysfunctions of autism spectrum disorders can be confused with those of other psychiatric disorders. In other cases it seems more appropriate to speak of a diagnostics shadowing. Autistic polymorphism or comorbidity? How to evaluate? 

AUTISM SPECTRUM DISORDERS: GENETIC INFLUENCE ON SOCIAL COGNITION

Recent evidences provide a better understand of some of the neurotransmitter mechanisms that regulate social behaviour. The same findings reveal important links with the molecular bases of autism spectrum disorders.

mTOR: A KEY GENE IN UNDERSTANDING THE GREATER PSYCHO-PHSYCIAL VULNERABILITY IN PEOPLE WITH INTELLECTUAL AND RELATIONAL DEVLEOPMENTAL DISORDERS - FIRST PART

In 2009, it was discovered that a substance of bacterial origin can significantly lengthen the duration of life of some mammals. also the reduction of the food intake seems to delay the aging acting on the same gene. An increasing number of research  is indicating that TOR has a key role in some of the principle regulatory mechanisms of cell physiology and systems with which they communicate: nervous, endocrine, and immune.

PREVALENCE OF PSYCHIATRIC DISORDERS IN CHILDREN WITH AUTISM: NEW RESULTS

Many studies indicate a high prevalence of psychiatric disorders in adults with autism spectrum disorders (ASD). More uncertain is the data with respect to children. A recent irish research found a particularly high rate of anxiety disorders and attention deficit hyperactivity disorder (ADHD).  

THE OXYTOCIN AS BASIS FOR FUTURE DRUGS AGAINST AUTISM SPECTRUM DISORDERS

Increasingly evidences confirm that the neuropeptide oxytocin modulate cognitive social skills and consequent behaviours. this substance could be the basis for new pharmachlogical treatments for the relational development disorders.

PARTICIPATION OF CREA IN ‘QUALITY OF LIFE SIRG ROUNDTABLE 2011’

On the 9th and 10th of November 2011 the annual gathering of researchers belonging to the special interest group on the Quality of Life of the International Association for Scientific Studies of Intellectual Disabilities will be held. The CREA site anticipates some content.

AUTISM, SCHIZOPHRENIA AND INTELLECTUAL DISABILITIES: AT A CROSSROADS ON SHORT ARM OF CHROMOSOME 16

It was recently discovered that variations in the number of copies of some sequences of the genome on the short arm of chromosome 16, already correlated with autism, are associated with the possibility of developing schizophrenia. In previous studies the deletion of a neighboring area was found to be an independent risk factor for the development of  intellectual disabilities. Is it possible that there is a basic common epigenetic to the three conditions?

DOWN SYNDROME: IMPORTANT EVIDENCE IN THE FULFILLMENT OF THE COMPLETE GENETIC MAP

For many years scholars have worked to understand which genes may be responsible for the clinical manifestations of Down syndrome and to improve  the conditions and  life expectancy of the individuals who are affected.

SPORTS ACTIVITIES ADDRESSED WITH THE INTELLECTUALLY DISABLED

As of Monday, June 6, 2011, the cycle of sports dedicated to people with intellectual disabilities begins.  The project  is a collaboration between A.M.G. and the Provincial Committee of Florence A.I.C.S. (Italian Culture and Sports Association).

INTELLECTUAL DISABILITY, AUTISM AND SCHIZOPHRENIA: NEUROCOGNITIVE DEVELOPMENTAL DISORDERS

The evolution of neuroscientific knowledge seems to indicate a pathogenetic area common in intellectual disabilities, autism and schizophrenia. All genetic vulnerability and gene-environment interaction may play a decisive role in the formation of circuits for memory and other cognitive functions.

BENJAMIN: AN ANCIENT HISTORY OF RESPECT AND INCLUSION OF INTELLECTUAL DISABILITY

In Sierra De Atapuerca, near Burgos (North-Central Spain), a skull of a youth affected with synostosis lambdoidea and a severe intellectual disability was found. The findings show that he was helped to live as any other member of the group.

V.A.I.P.E.D.D. – Voluntary service and augmentative interaction with parents and experts on developmental delay (V.O.I.A.G.E.R.S.)

MULTIDISCIPLINARITY, LIFE-SPAN AND QUALITY OF LIFE

In the field of Intellectual Disability (ID), in which it is impossible to think of recovery as a return to a functional capacity similar to the majority of people, the problem with diagnostic intervention and therapy is that it is strongly linked, more so than other medical conditions, to the improvement of Quality of Life (QoL).