Valeria Scandurra

Università degli Studi di Siena, Siena, Tuscany, Italy

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Publications (10)10.55 Total impact

  • Roberto Canitano, Valeria Scandurra
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    ABSTRACT: Glutamate transmission dysfunction has been found in various preclinical models of Autism Spectrum Disorders (ASD), thus the glutamate system is a target for therapeutics. This report reviews current treatments for glutamate dysfunction in ASD models and clinical trials. Antagonists of metabotropic glutamate receptor subtype 5 (mGluR5) have been tested in preclinical models of autism. Black and Tan Bachyuric (BTBR) mice model behavioral phenotypes of the three core diagnostic domains of autism, e.g. social deficits, impaired language and communication, and repetitive behaviors. A significant reduction in repetitive self-grooming was observed after mGluR5 antagonist administration in BTBR mice. SHANK 3 deficient mice which have altered synaptic transmission and plasticity, were administered IGF-1 treatment to reverse these deficits based on the hypothesis that reduced AMPA receptor levels reflect less mature synapses. Clinical trials have been carried out in ASD with glutamate NMDA receptors, but current findings are not sufficient for conclusions on safety and efficacy. Memantine is an NMDA antagonist under investigation in controlled trials that hopefully will provide new insight on its use in autism. Studies using novel treatments with other glutamatergic agents are also underway and encouraging results have been observed with N-acetylcysteine in treating irritability in ASD.
    Research in Autism Spectrum Disorders 03/2014; 8(3):255–265. · 2.96 Impact Factor
  • 2013 International Meeting for Autism Research; 05/2013
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    ABSTRACT: 22q11.2 Deletion Syndrome (22q11 DS) is a multisystemic condition that may also include neuropsychiatric disorders. We present a case of a 15-year-old boy that was evaluated for social difficulties, and anxiety with the above genetic abnormality. Clinical features were rather complex as different neuropsychiatric symptoms emerged from assessment and clinical evaluation. As a result we propose that Multiple Complex Developmental Disorder (MCDD) would be the best fitting comprehensive diagnosis to be added to the DSM-IV category of Pervasive Developmental Disorder-Not Otherwise Specified.
    Journal of Clinical Medicine Research 04/2013; 5(2):135-9.
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    Roberto Canitano, Valeria Scandurra
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    ABSTRACT: Autism Spectrum Disorders (ASD) are characterized by dysfunction in three core symptom domains: social impairments, communication impairments, and repetitive behaviours with restricted interests. Oxytocin (OXT) and the structurally similar peptide arginine vasopressin (AVP), may play a role in the etiology of these disorders, especially in the social difficulties domain. Oxytocin is involved in milk let-down and uterine contractions at a peripheral level, while in the brain it predominantly has a neuromodulatory function on affiliative and social behavior. Abnormalities of OXT in ASD are herein reviewed, using blood studies, neuroimaging, and translational research. Genetic abnormalities in OXT have also been consistently reported in ASD. Clinical trials with OXT are currently aimed at reducing social impairments and repetitive behaviours. Finally, the current limitations and prospects for the future of OXT treatment in ASD are discussed.
    Currrent psychopharmacology. 05/2012; 1(2):178-182.
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    ABSTRACT: Several cases of interstitial deletion encompassing band 18q12.3 are described in patients with mild dysmorphic features, mental retardation and impairment of expressive language. The critical deleted region contains SETBP1 gene (SET binding protein 1). Missense heterozygous mutations in this gene cause Schinzel-Giedion syndrome (SGS, MIM#269150), characterized by profound mental retardation and multiple congenital malformations. Recently, a 18q12.3 microdeletion causing SETBP1 haploinsufficiency has been described in two patients that show expressive speech impairment, moderate developmental delay and peculiar facial features. The phenotype of individual with partial chromosome 18q deletions does not resemble SGS. The deletion defines a critical region in which SETBP1 is the major candidate gene for expressive speech defect. We describe an additional patient with the smallest 18q12.3 microdeletion never reported that causes the disruption of SETBP1. The patient shows mild mental retardation and expressive speech impairment with striking discrepancy between expressive and receptive language skills. He is able to communicate using gestures and mimic expression of face and body with surprising efficacy. The significant phenotypic overlap between this patient and the cases previously reported enforce the hypothesis that SETBP1 haploinsufficiency may have a role in expressive language development.
    European journal of medical genetics 01/2012; 55(3):216-21. · 1.57 Impact Factor
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    ABSTRACT: Nicolaides-Baraitser syndrome is a rare clinical condition characterized by mental retardation with impairment of expressive language, short stature, microcephaly, sparse hair, typical facial dysmorphisms, and interphalangeal joint swellings. To date 24 cases have been reported, most of them being sporadic. The genetic background of Nicolaides-Baraitser syndrome is unclear in terms of cause and mode of inheritance, one of the more probable explanations is de novo mutation of a dominant gene. Some reported patients presented autistic features, although in none of these patients was the diagnosis of autism spectrum disorder formally made. We describe two unrelated patients with clinical features suggesting Nicolaides-Baraitser syndrome and, in addition, autism spectrum disorder is defined by the presence of the three cardinal core features: qualitative impairments in social, communicative, and behavioral development.
    Clinical dysmorphology 01/2011; 20(1):38-41. · 0.47 Impact Factor
  • Roberto Canitano, Valeria Scandurra
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    ABSTRACT: Autism spectrum disorders are characterized by impairment in social reciprocity, disturbances in language and communication, restricted interests and repetitive behaviors of various types, as defined by the DSM-IV. The neurobiological bases of these disorders are poorly understood, although several abnormalities have been found. Pharmacotherapy in autism spectrum disorders lacks a solid, reliable neurobiological basis and at present it is mainly directed at the so-called associated behavioral symptoms, with limited relevance to core symptoms. Atypical neuroleptics, especially risperidone, have been shown to be useful in the treatment of behavioral symptoms in autism. Recent trials with SSRIs did not show remarkable results, in spite of their promising potential role. Attention deficit and hyperactivity disorder medications may be useful for counteracting the additional features of hyperactivity and short attention span. Antiepileptics have shown promising results but there are no specific indications for them as of yet. Research is now directed at evaluating novel treatments and combined behavioral and pharmacologic treatments, since behavioral interventions are the mainstay of the early treatment of autism. An update of currently available pharmacological treatments is provided.
    Progress in Neuro-Psychopharmacology and Biological Psychiatry 10/2010; 35(1):18-28. · 3.55 Impact Factor
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    ABSTRACT: Background: Autism Spectrum Disorders (ASD) present a complex and heterogeneous aetiology with a strong evidence of a genetic involvement. The identification of copy-number variants (CNVs) by the application of comparative genomic hybridization (CGH) is beginning to provide some insights into the underlying genetic causes of neurodevelopmental disorders, in particular susceptibility to mental retardation, autism and schizophrenia. Recently recurrent microdeletions at 16p11.2, 16p13.1 and microduplications at 15q13.3 have been associated to confer susceptibility to autism spectrum disorder in up to 1% of autistic patients Objectives: In order to identify the genetic causes leading to the disorder and provide an appropriate recurrence risk to the families we evaluated in genetic counseling a group of patients with a diagnosis of ASD, namely Autistic Disorder or Pervasive Developmental Disorder-Not Otherwise Specified(PPD-NOS) according to DSM-IV classification. We have attempted the characterization in term of frequency, size, and nature of CNVs in our population of patients with ASD. We have searched for new CNVs that could be implicated as genetic causes or modifier factors in the patient’s phenotype and looked for new genes that could correlate with the disease. Methods: By the use of oligonucleotide array with 44.000 probes and an average resolution of about 100-130 kb (44K, Agilent) we have analyzed 50 unrelated subjects with ASD. Inheritance has been determined using the same technique. Results: We have identified private rearrangements in 4 out of 50 patients analyzed. In one patient, a 16p13.11 duplication was identified, already reported to be associated with Autistic Disorder (AD). In another patient with AD, a 17q12 duplication was identified, inherited by an apparently normal father and a possible positional effect in a nearby gene was hypothesized (Mencarelli MA et al; 2008 and Katzaki E et al; 2009). Two patients with AD presented two inherited rearrangements each, in one, a deletion in 1p22.1 inherited by the mother and a deletion in 4q35.2 inherited by the father were detected. In the other with AD, a deletion in 9p21.3 inherited by the mother and a duplication in 11q23.1 inherited by the father were identified. A possible mechanism by which a double structural variation can impact the patients phenotypes, apart gene dosage and disruption (currently implicated by CNVs), is that of genes included in two different regions having a possible interaction in a common molecular pathway Conclusions: Array CGH analysis has been revealed a useful tool not only for the identification of the genetic cause in patients with MCA/MR but also in providing evidence of the pathogenetic role of CNVs in patients with ASD. Our results confirm that rearrangements involving the 16p13 region are recurrent (2%) in ASD. As well we have identified in the 4% of patients double rearrangements that can lead to hypothesize the possibility of digenic inheritance. Future studies on ASD will require the collection of a larger number of patients and the attempt to identify new disease genes should take into account the possible interaction between genes located in different chromosomal regions.
    International Meeting for Autism Research 2010; 05/2010
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    Roberto Canitano, Valeria Scandurra
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    ABSTRACT: This is a review of the clinical trials investigating the efficacy and safety of risperidone in the treatment of children with autistic spectrum disorders (ASD). The main clinical characteristics are impairment in social skills, communication difficulties, repetitive movements and behaviors, including stereotypies. Pharmacotherapy is mainly directed at the so-called target symptoms, ie, behavioral disorders and the various kinds of repetitions associated with ASD. According to the available data, risperidone seems to be moderately efficacious and safe for treating behavioral disorders. 4 double blind controlled trial. 3 reanalysis studies, and 12 open studies have documented the role of risperidone in children with ASD. Controlled studies have been thoroughly considered in this review.
    Neuropsychiatric Disease and Treatment 09/2008; 4(4):723-30. · 2.00 Impact Factor
  • R. Canitano, V. Scandurra
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    ABSTRACT: Background: Additional disorders are common in ASD but are still poorly defined. It is an issue of growing interest because of the implications on clinical ground, etiology and classification. There is still disagreement regarding the relationships betweem associted disorders and the core symptoms of ASD. Objectives: to evaluate the prevalence of associated conditions in a group of children with ASD and to describe the clinical characteristics. Methods: 56 children and adolescents with ASD, age 8.7+/-3.5, were further evaluated for the presence of associated disorders. Intellectual disability was present in the majority of patients, n=52 (96.5%). Assessment of additional symptoms was obtained using the following scales: Yale Global Tics Severity Scale (YGTSS), Children Yale-Brown obsessive compulsive scales (CY-BOCS), Yale-Paris Self-Injurious Behavior Scale. Autism Diagnostic Observation Schedule (ADOS) and Childhood Autism Rating Scale (CARS) were used for. Genetic and medical conditions were also screened. Standard electroencephalogram was performed in all participants. Results: 9 children had epilepsy (16%), 15 (26%) children had epileptiform abnormalities without seizures. Tourette syndrome was found in 3 children (5.5%), Self Injury Behaviors in 2 children (3.5%). 3 boys (5.5%) had a known medical conditions adding to ASD as follows:1 had mild paraparesis and blindness. 1 boy had neurosensorial deafness and the last one had FRA-X syndrome. Conclusions: The prevalence rates of associated disorders in ASD found in this study are consistent with current reports. In this study the use of standardized scales was the first step to improve diagnostic reliability of associate diusoredrs in ASD
    International Meeting for Autism Research 2008; 05/2008