Valeria Scandurra

Università degli Studi di Siena, Siena, Tuscany, Italy

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Publications (7)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 01/2014; 8(3):255–265. · 2.96 Impact Factor
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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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    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