An Italian Prospective Study on Autism Treatment: The Earlier, the Better? / Giacomo VIVANTI in Autism - Open Access, 1-1 (December 2011)  

Public ISBD [article]  inAutism - Open Access > 1-1 (December 2011) . - 4 p. Titre : An Italian Prospective Study on Autism Treatment: The Earlier, the Better? Type de document : Texte imprimé et/ou numérique Auteurs : Giacomo VIVANTI, Auteur ; Barbara MANZI, Auteur ; Arianna BENVENUTO, Auteur ; Barbara BATTAN, Auteur ; Paolo CURATOLO, Auteur Année de publication : 2011 Article en page(s) : 4 p. Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorders  Early diagnosis andtreatment  Cognitive and behavioral outcomes Index. décimale : PER Périodiques Résumé : Background: Neurocognitive models of autism suggest that starting a treatment at a younger age might be a critical factor in promoting optimal outcomes. The aim of the study is to examine the relationship between age at start of treatment and outcomes in a group of children with Autism Spectrum Disorders (ASDs) in Italy. Methods: Thirty-nine children between 22 and 77 months of age diagnosed with ASDs were divided into two groups on the basis of their age at start of a community-based behavioral treatment. Measures of severity of symptoms, cognitive abilities and adaptive functioning were collected at the beginning of the treatment (Time 1) and one year after (Time 2) to examine group differences in treatment outcomes. Our working hypothesis was that children who started the treatment at a younger age would show a more positive response to treatment compared to children who started at later age. Results: Compared with children who received a diagnosis and started the treatment at a later age, children in the early treatment group showed a better outcome in terms of attenuation of symptoms severity. No group differences were found in terms of adaptive functioning and cognitive abilities, with both groups equally improving their performance. Conclusions: Age at start of the treatment seems to be an important factor to promote gains in the social- communication domain. However, gains in adaptive functioning and cognitive skills in our sample were not related to age. The positive effect of a community-based intervention in children with an early diagnosis of ASDs might be due to the plasticity of neural systems in age-dependent stages. The possibility that early intervention could substantially alter the course of behavioral and brain development in children with autism points to the urgent need for more research on treatment in this population. En ligne : http://dx.doi.org/10.4172/2165-7890.1000102 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=153 [article] An Italian Prospective Study on Autism Treatment: The Earlier, the Better? [Texte imprimé et/ou numérique] / Giacomo VIVANTI, Auteur ; Barbara MANZI, Auteur ; Arianna BENVENUTO, Auteur ; Barbara BATTAN, Auteur ; Paolo CURATOLO, Auteur . - 2011 . - 4 p. Langues : Anglais (eng) in Autism - Open Access > 1-1 (December 2011) . - 4 p. Mots-clés : Autism Spectrum Disorders  Early diagnosis andtreatment  Cognitive and behavioral outcomes Index. décimale : PER Périodiques Résumé : Background: Neurocognitive models of autism suggest that starting a treatment at a younger age might be a critical factor in promoting optimal outcomes. The aim of the study is to examine the relationship between age at start of treatment and outcomes in a group of children with Autism Spectrum Disorders (ASDs) in Italy. Methods: Thirty-nine children between 22 and 77 months of age diagnosed with ASDs were divided into two groups on the basis of their age at start of a community-based behavioral treatment. Measures of severity of symptoms, cognitive abilities and adaptive functioning were collected at the beginning of the treatment (Time 1) and one year after (Time 2) to examine group differences in treatment outcomes. Our working hypothesis was that children who started the treatment at a younger age would show a more positive response to treatment compared to children who started at later age. Results: Compared with children who received a diagnosis and started the treatment at a later age, children in the early treatment group showed a better outcome in terms of attenuation of symptoms severity. No group differences were found in terms of adaptive functioning and cognitive abilities, with both groups equally improving their performance. Conclusions: Age at start of the treatment seems to be an important factor to promote gains in the social- communication domain. However, gains in adaptive functioning and cognitive skills in our sample were not related to age. The positive effect of a community-based intervention in children with an early diagnosis of ASDs might be due to the plasticity of neural systems in age-dependent stages. The possibility that early intervention could substantially alter the course of behavioral and brain development in children with autism points to the urgent need for more research on treatment in this population. En ligne : http://dx.doi.org/10.4172/2165-7890.1000102 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=153

Autism and infantile spasms in children with tuberous sclerosis / Paolo CURATOLO in Developmental Medicine & Child Neurology, 29-4 (August 1987)

Public ISBD [article]  inDevelopmental Medicine & Child Neurology > 29-4 (August 1987) . - p.551 Titre : Autism and infantile spasms in children with tuberous sclerosis Type de document : Texte imprimé et/ou numérique Auteurs : Paolo CURATOLO, Auteur ; Raffaella CUSMAI, Auteur Année de publication : 1987 Article en page(s) : p.551 Langues : Anglais (eng) Index. décimale : PER Périodiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=628 [article] Autism and infantile spasms in children with tuberous sclerosis [Texte imprimé et/ou numérique] / Paolo CURATOLO, Auteur ; Raffaella CUSMAI, Auteur . - 1987 . - p.551. Langues : Anglais (eng) in Developmental Medicine & Child Neurology > 29-4 (August 1987) . - p.551 Index. décimale : PER Périodiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=628

Autism spectrum disorders associated with chromosomal abnormalities / Adriana LO-CASTRO in Research in Autism Spectrum Disorders, 4-3 (July-September 2010)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 4-3 (July-September 2010) . - p.319-327 Titre : Autism spectrum disorders associated with chromosomal abnormalities Type de document : Texte imprimé et/ou numérique Auteurs : Adriana LO-CASTRO, Auteur ; Paolo CURATOLO, Auteur ; Arianna BENVENUTO, Auteur ; Cinzia GALASSO, Auteur ; Cristina PORFIRIO, Auteur Année de publication : 2010 Article en page(s) : p.319-327 Langues : Anglais (eng) Mots-clés : Autism-spectrum-disorders Chromosomal-abnormalities Mental-retardation Dysmorphic-features Minor-physical-anomalies Genetics Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASDs) constitute a class of severe neurodevelopmental conditions with complex multifactorial and heterogeneous etiology. Despite high estimates of heritability, genetic causes of ASDs remain elusive, due to a high degree of genetic and phenotypic heterogeneity. So far, several “monogenic” forms of autism have been identified, including Rett syndrome, Fragile-X syndrome, and Tuberous Sclerosis, accounting only for a small part of ASDs cases. Further evidences for rare mutations in the etiology of ASDs come from cytogenetic studies. Traditional cytogenetic approaches have highlighted the high frequency of large chromosomal abnormalities (about 7% of patients) and, more recently, the advent of high-resolution oligonucleotide microarrays has made possible to screen genome-wide for structural changes. In this review, we describe less known chromosomal abnormalities reported in association with ASDs and provide some clues to neuropediatricians for a more specific diagnostic evaluation of patients with ASDs. En ligne : http://dx.doi.org/10.1016/j.rasd.2009.10.006 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=100 [article] Autism spectrum disorders associated with chromosomal abnormalities [Texte imprimé et/ou numérique] / Adriana LO-CASTRO, Auteur ; Paolo CURATOLO, Auteur ; Arianna BENVENUTO, Auteur ; Cinzia GALASSO, Auteur ; Cristina PORFIRIO, Auteur . - 2010 . - p.319-327. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 4-3 (July-September 2010) . - p.319-327 Mots-clés : Autism-spectrum-disorders Chromosomal-abnormalities Mental-retardation Dysmorphic-features Minor-physical-anomalies Genetics Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASDs) constitute a class of severe neurodevelopmental conditions with complex multifactorial and heterogeneous etiology. Despite high estimates of heritability, genetic causes of ASDs remain elusive, due to a high degree of genetic and phenotypic heterogeneity. So far, several “monogenic” forms of autism have been identified, including Rett syndrome, Fragile-X syndrome, and Tuberous Sclerosis, accounting only for a small part of ASDs cases. Further evidences for rare mutations in the etiology of ASDs come from cytogenetic studies. Traditional cytogenetic approaches have highlighted the high frequency of large chromosomal abnormalities (about 7% of patients) and, more recently, the advent of high-resolution oligonucleotide microarrays has made possible to screen genome-wide for structural changes. In this review, we describe less known chromosomal abnormalities reported in association with ASDs and provide some clues to neuropediatricians for a more specific diagnostic evaluation of patients with ASDs. En ligne : http://dx.doi.org/10.1016/j.rasd.2009.10.006 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=100

Benign paroxysmal vertigo and migraine / Paolo CURATOLO in Developmental Medicine & Child Neurology, 29-3 (June 1987)

Public ISBD [article]  inDevelopmental Medicine & Child Neurology > 29-3 (June 1987) . - p.405-406 Titre : Benign paroxysmal vertigo and migraine Type de document : Texte imprimé et/ou numérique Auteurs : Paolo CURATOLO, Auteur ; Antonio SCIARETTA, Auteur Année de publication : 1987 Article en page(s) : p.405-406 Langues : Anglais (eng) Index. décimale : PER Périodiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=626 [article] Benign paroxysmal vertigo and migraine [Texte imprimé et/ou numérique] / Paolo CURATOLO, Auteur ; Antonio SCIARETTA, Auteur . - 1987 . - p.405-406. Langues : Anglais (eng) in Developmental Medicine & Child Neurology > 29-3 (June 1987) . - p.405-406 Index. décimale : PER Périodiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=626

Candidate gene study of HOXB1 in autism spectrum disorder / Lucia A. MUSCARELLA in Molecular Autism, (May 2010)  

Public ISBD [article]  inMolecular Autism > (May 2010) . - 39 p. Titre : Candidate gene study of HOXB1 in autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Lucia A. MUSCARELLA, Auteur ; Carmela BRAVACCIO, Auteur ; Cindy SCHNEIDER, Auteur ; Monica SACCANI, Auteur ; Carlo LENTI, Auteur ; Roberto MILITERNI, Auteur ; Grazia GIANA, Auteur ; Riccardo ALESSANDRELLI, Auteur ; Barbara MANZI, Auteur ; Roberto SACCO, Auteur ; Vito GUARNIERI, Auteur ; Raun D. MELMED, Auteur ; Paolo CURATOLO, Auteur ; Antonio M. PERSICO, Auteur ; Leonardo D'AGRUMA, Auteur Année de publication : 2010 Article en page(s) : 39 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Background HOXB1 plays a major role in brainstem morphogenesis and could partly determine the cranial circumference in conjunction with HOXA1. In our sample, HOXA1 alleles significantly influence head growth rates both in autistic patients and in population controls. An initial report, suggesting that HOXB1 could confer autism vulnerability in interaction with HOXA1, was not confirmed by five small association studies. Methods Our sample includes 269 autistic individuals, belonging to 219 simplex and 28 multiplex families. A mutational analysis of the two exons and flanking intronic sequences of the HOXB1 gene was carried out in 84 autistic patients by denaturing high performance liquid chromatography, followed by DNA sequencing. Identified rare variants were then searched by a restriction analysis in 236 autistic patients and 325-345 controls. Case-control and family-based association studies were performed on two common variants in 169 Italian patients versus 184 Italian controls and in 247 trios. Results We identified three common polymorphisms, rs72338773 [c.82insACAGCGCCC (INS/nINS)], rs12939811 [c.309A>T (Q103H)], and rs7207109 [c.450G>A (A150A)] and three rare variants, namely IVS1+63G>A, rs35115415 [c.702G>A (V234V)] and c.872_873delinsAA (S291N). SNPs rs72338773 and rs12939811 were not associated with autism, using either a case-control (alleles, exact P=0.13) or a family-based design [transmission/disequilibrium test (TDT)x2=1.774, P=0.183]. The rare variants, all inherited from one of the parents, were present in two Italian and in two Caucasian-American families. Autistic probands in two families surprisingly inherited a distinct rare variant from each parent. The IVS1+63A allele was present in 3/690 control chromosomes, whereas rare alleles at rs35115415 and c.872_873delinsAA (S291N) were not found in 662 and 650 control chromosomes, respectively. The INS-T309 allele influenced head size, but its effect appears more modest and shows no interaction with HOXA1 alleles. The INS-T309 allele is also associated with more severe stereotypic behaviours, according to ADI-R scores (N= 60 patients, P<0.01). Conclusions HOXB1 mutations do not represent a common cause of autism, nor do HOXB1 common variants play important roles in autism vulnerability. HOXB1 provides minor, albeit detectable contributions to head circumference in autistic patients, with HOXA1 displaying more prominent effects. HOXB1 variants may modulate the clinical phenotype, especially in the area of stereotypic behaviours. En ligne : http://dx.doi.org/10.1186/2040-2392-1-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=103 [article] Candidate gene study of HOXB1 in autism spectrum disorder [Texte imprimé et/ou numérique] / Lucia A. MUSCARELLA, Auteur ; Carmela BRAVACCIO, Auteur ; Cindy SCHNEIDER, Auteur ; Monica SACCANI, Auteur ; Carlo LENTI, Auteur ; Roberto MILITERNI, Auteur ; Grazia GIANA, Auteur ; Riccardo ALESSANDRELLI, Auteur ; Barbara MANZI, Auteur ; Roberto SACCO, Auteur ; Vito GUARNIERI, Auteur ; Raun D. MELMED, Auteur ; Paolo CURATOLO, Auteur ; Antonio M. PERSICO, Auteur ; Leonardo D'AGRUMA, Auteur . - 2010 . - 39 p. Langues : Anglais (eng) in Molecular Autism > (May 2010) . - 39 p. Index. décimale : PER Périodiques Résumé : Background HOXB1 plays a major role in brainstem morphogenesis and could partly determine the cranial circumference in conjunction with HOXA1. In our sample, HOXA1 alleles significantly influence head growth rates both in autistic patients and in population controls. An initial report, suggesting that HOXB1 could confer autism vulnerability in interaction with HOXA1, was not confirmed by five small association studies. Methods Our sample includes 269 autistic individuals, belonging to 219 simplex and 28 multiplex families. A mutational analysis of the two exons and flanking intronic sequences of the HOXB1 gene was carried out in 84 autistic patients by denaturing high performance liquid chromatography, followed by DNA sequencing. Identified rare variants were then searched by a restriction analysis in 236 autistic patients and 325-345 controls. Case-control and family-based association studies were performed on two common variants in 169 Italian patients versus 184 Italian controls and in 247 trios. Results We identified three common polymorphisms, rs72338773 [c.82insACAGCGCCC (INS/nINS)], rs12939811 [c.309A>T (Q103H)], and rs7207109 [c.450G>A (A150A)] and three rare variants, namely IVS1+63G>A, rs35115415 [c.702G>A (V234V)] and c.872_873delinsAA (S291N). SNPs rs72338773 and rs12939811 were not associated with autism, using either a case-control (alleles, exact P=0.13) or a family-based design [transmission/disequilibrium test (TDT)x2=1.774, P=0.183]. The rare variants, all inherited from one of the parents, were present in two Italian and in two Caucasian-American families. Autistic probands in two families surprisingly inherited a distinct rare variant from each parent. The IVS1+63A allele was present in 3/690 control chromosomes, whereas rare alleles at rs35115415 and c.872_873delinsAA (S291N) were not found in 662 and 650 control chromosomes, respectively. The INS-T309 allele influenced head size, but its effect appears more modest and shows no interaction with HOXA1 alleles. The INS-T309 allele is also associated with more severe stereotypic behaviours, according to ADI-R scores (N= 60 patients, P<0.01). Conclusions HOXB1 mutations do not represent a common cause of autism, nor do HOXB1 common variants play important roles in autism vulnerability. HOXB1 provides minor, albeit detectable contributions to head circumference in autistic patients, with HOXA1 displaying more prominent effects. HOXB1 variants may modulate the clinical phenotype, especially in the area of stereotypic behaviours. En ligne : http://dx.doi.org/10.1186/2040-2392-1-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=103

Cluster Analysis of Autistic Patients Based on Principal Pathogenetic Components / Roberto SACCO in Autism Research, 5-2 (April 2012)  

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Gelastic epilepsy and true precocious puberty due to hypothalamic hamartoma / Paolo CURATOLO in Developmental Medicine & Child Neurology, 26-4 (August 1984)

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Infantile spasms and the CHARGE association / Paolo CURATOLO in Developmental Medicine & Child Neurology, 25-3 (June 1983)

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Infantile spasms: a neuro-ophthalmological study / Paolo CURATOLO in Developmental Medicine & Child Neurology, 23-4 (August 1981)

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Joubert syndrome: a case confirmed by computerized tomography / Paolo CURATOLO in Developmental Medicine & Child Neurology, 22-3 (June 1980)

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Neuropsychological Aspects of Tuberous Sclerosis in Relation to Epilepsy and MRI Findings / Isabelle JAMBAQUE in Developmental Medicine & Child Neurology, 33-8 (August 1991)

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Principal pathogenetic components and biological endophenotypes in autism spectrum disorders / Roberto SACCO in Autism Research, 3-5 (October 2010)  

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Reduction in Retinal Nerve Fiber Layer Thickness in Young Adults with Autism Spectrum Disorders / Leonardo EMBERTI GIALLORETI in Journal of Autism and Developmental Disorders, 44-4 (April 2014)  

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Tuberous Sclerosis Complex / Paolo CURATOLO

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Tuberous sclerosis complex: from genes to behavioural and cognitive phenotypes / Paolo CURATOLO

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