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1.
Neuropsychiatr Dis Treat ; 13: 1559-1567, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28670125

RESUMO

Over the years, several authors have reported symptoms of attention deficit hyperactivity disorder (ADHD) in patients with autism spectrum disorders (ASD); however, studies on the risk factors of ADHD symptoms in children with ASD are lacking. The aim of this cross-sectional study was to identify the risk factors for the development of ADHD symptoms in children with ASD. The sample consisted of 67 children with ASD who were assessed with Conner's Parent Rating Scale-Revised (CPRS-R), and with a semi-structured detailed interview administered to parents, to collect a series of clinical data such as coexisting somatic and neuropsychiatric problems and familial and pre/peri/postpartum risk factors. We found that 55% of ASD children exceeded the cut-off of CPRS-R Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV), total scale. The univariate analyses showed that children's age (P=0.048), motor delay (P=0.039), enuresis (P=0.014), allergies (P<0.01), comorbid oppositional defiant disorder (P=0.026) and intellectual disabilities comorbidities (P=0.034) were associated to the CPRS-R DSM-IV total score. Some familial predictors such as neuropsychiatric family history of intellectual disabilities (P=0.003) and psychosis (P=0.039) were related to the CPRS-R DSM-IV total score. In particular, a model including allergies (P=0.000) and family history of psychosis (P=0.03) explained 25% (corrected R2=0.25) of the variance of the DSM-IV ADHD score. In conclusion, we identified some risk factors associated with the development of ADHD symptoms in ASD children that need to be studied further.

2.
Neuropsychiatr Dis Treat ; 11: 343-52, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25709458

RESUMO

BACKGROUND: The aim of this study was to assess the prevalence of potential environmental and psychopathological risk factors, with special focus on symptoms of attention-deficit/hyperactivity disorder (ADHD), in a sample of adolescent offenders in relation to the type of crime committed. METHODS: The assessment included data collection and administration of clinical standardized scales such as the Youth Self-Report and Conners' Adolescent Self-Report Scale. A total of 135 juvenile offenders participated in the study. In relation to the type of crime committed, we identified three groups matched for age and sex (crimes against people, property crimes, and alcohol-drug-related crimes). RESULTS: Fifty-two percent of juvenile offenders reported educational achievement problems and 34% reported a family history of psychiatric disorders. We detected a statistically significant difference between the three groups with regard to ADHD (P=0.01) and conduct problems (P=0.034). Juvenile offenders who had committed crimes against people showed more ADHD symptoms (18%) and conduct problems (20%) than adolescents who had committed property crimes and alcohol-drug-related crimes. Sixty percent of the juvenile offenders who had committed property crimes and 54% of those who had committed alcohol-drug-related crimes showed problems in academic achievement. CONCLUSION: These findings suggest the need to implement specific interventions for prevention and treatment of specific criminal behavior.

3.
Autism Res ; 8(3): 328-37, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25604000

RESUMO

Recent studies support several overlapping traits between autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD), assuming the existence of a combined phenotype. The aim of our study was to evaluate the common or distinctive clinical features between ASD and ADHD in order to identify possible different phenotypes that could have a clinical value. We enrolled 181 subjects divided into four diagnostic groups: ADHD group, ASD group, ASD+ADHD group (that met diagnostic criteria for both ASD and ADHD), and control group. Intelligent quotient (IQ), emotional and behavior problems, ADHD symptoms, ASD symptoms, and adaptive behaviors were investigated through the following test: Wechsler Intelligence Scale for Children, Wechsler Preschool and Primary Scale of Intelligence or Leiter International Performances Scale Revised, Child Behavior Checklist, Conners' Rating Scales-Revised, SNAP-IV Rating Scale, the Social Communication Questionnaire, Vineland Adaptive Behavior Scales. The ASD+ADHD group differs from ADHD or ASD in some domains such as lower IQ mean level and a higher autistic symptoms severity. However, the ASD+ADHD group shares inattention and hyperactivity deficit and some emotional and behavior problems with the ADHD group, while it shares adaptive behavior impairment with ASD group. These findings provide a new understanding of clinical manifestation of ASD+ADHD phenotype, they may also inform a novel treatment target.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/fisiopatologia , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Transtorno do Espectro Autista/fisiopatologia , Transtorno do Espectro Autista/psicologia , Adaptação Psicológica , Criança , Comportamento Infantil/psicologia , Pré-Escolar , Feminino , Humanos , Inteligência , Testes de Inteligência/estatística & dados numéricos , Masculino , Inquéritos e Questionários , Índices de Gravidade do Trauma
4.
BMC Pediatr ; 14: 220, 2014 Sep 02.
Artigo em Inglês | MEDLINE | ID: mdl-25182979

RESUMO

BACKGROUND: Microphthalmia with linear skin defects (MLS) syndrome is a rare X-linked dominant male-lethal developmental disorder characterized by unilateral or bilateral microphthalmia and linear skin defects of the face and neck. Additional features affecting the eyes, heart, brain or genitourinary system can occur, corroborating the intra- and interfamilial phenotypic variability. The majority of patients display monosomy of the Xp22.2 region, where the holocytochrome c-type synthase (HCCS) gene is located. CASE PRESENTATION: We describe a 15-year-old-female affected by MLS syndrome and autism spectrum disorder (ASD). ASD has not previously been reported as a component of MLS. Our patient shows a large deletion of 12.9 Mb, involving Xp22.32-p22.2, which encompasses both the HCCS gene and autism X-linked genes. CONCLUSION: Thus, patients with a large deletion at Xp22 might display MLS with ASD, due to the deletion of contiguous genes, although the highly variable phenotype of these patients could be influenced by several genetic mechanisms, including different tissue-specific X-inactivation and somatic mosaicism.


Assuntos
Transtornos Globais do Desenvolvimento Infantil/etiologia , Cromossomos Humanos X , Deleção de Genes , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Microftalmia/diagnóstico , Anormalidades da Pele/diagnóstico , Adolescente , Transtornos Globais do Desenvolvimento Infantil/diagnóstico , Transtornos Globais do Desenvolvimento Infantil/genética , Feminino , Doenças Genéticas Ligadas ao Cromossomo X/complicações , Doenças Genéticas Ligadas ao Cromossomo X/genética , Humanos , Microftalmia/complicações , Microftalmia/genética , Anormalidades da Pele/complicações , Anormalidades da Pele/genética
5.
Eur J Pediatr ; 173(3): 277-83, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24464091

RESUMO

UNLABELLED: Abnormalities of the sex chromosomes (47, XXY, 47 XYY, 45,X/46,XY mosaicism) are frequently associated with Autism Spectrum Disorders (ASD), but the male predisposition to these disorders has not been clearly explained. Previously, the role of the X chromosome was considered important in the ASD mainly because autistic symptoms were detected in genetic syndromes involving X chromosome (fragile X syndrome, Rett syndrome, Klinefelter syndrome). Instead, few studies have analyzed the possible role of the Y chromosome in the ASD. This study explores the role of the Y chromosome in ASD through a systematic literature review about the association between ASD and XYY syndrome and a description of two new cases with this association. The literature review considered studies published in peer-reviewed journals, included in the MEDLINE and PubMed databases, that examined the association between ASD and XYY syndrome. Few studies reported the occurrence of ASD in children with XYY karyotype and the majority of them did not reported a well-defined autism diagnostic category associated with an extra Y chromosome, but several clinical conditions that are generically described as language and social impairment. CONCLUSION: This study underlines the underestimated role of the Y chromosome in ASD, and we postulate that all the ASD associated with the XYY karyotype may presumably fall within mild degree of ASD as in our cases.


Assuntos
Transtornos Globais do Desenvolvimento Infantil/genética , Aberrações dos Cromossomos Sexuais , Transtornos dos Cromossomos Sexuais , Cariótipo XYY , Pré-Escolar , Humanos , Masculino
6.
Eur J Pediatr ; 172(9): 1259-62, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23652938

RESUMO

Incontinentia pigmenti (IP) is an X-linked dominant genodermatosis confined to females. It is usually lethal in males. However, the survival of some males has been reported in literature. We describe a long follow-up case of a 12-year-old male with IP and a normal karyotype but a genomic deletion of the NEMO gene in the Xq28 position in the form of somatic mosaicism. The patient showed severe ophthalmic abnormalities and neurological manifestations characterised by very mild cerebellar ataxia and a history of epilepsy that was severe at the beginning with West syndrome, become moderate overtime and is now resolved. Despite these neurological manifestations, probably related to the presence of at least some mutated cells in his brain, the long-term follow-up in this patient demonstrated good neurological and cognitive outcome.


Assuntos
Ataxia Cerebelar/etiologia , Epilepsia/etiologia , Quinase I-kappa B/genética , Incontinência Pigmentar/diagnóstico , Mosaicismo , Ataxia Cerebelar/diagnóstico , Criança , Epilepsia/diagnóstico , Marcadores Genéticos , Testes Genéticos , Humanos , Incontinência Pigmentar/complicações , Incontinência Pigmentar/genética , Masculino
7.
Brain Dev ; 35(6): 602-5, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23044052

RESUMO

The association between cerebral venous thrombosis (CVT) and multiple sclerosis (MS) has already been reported in several adult patients with clinically definite MS, in a suspected relation to i.v. corticosteroids or previously performed lumbar puncture (LP). We are reporting a case, which is, to our knowledge, the first one concerning a child patient with a MS, who developed multiple CVT after LP and during high-dose i.v. corticosteroid. Our conclusions are that the sequence LP followed by high dose corticosteroids may be a contributory factor for the development of CVT when associated with other risk factors.


Assuntos
Corticosteroides/efeitos adversos , Trombose Intracraniana/etiologia , Esclerose Múltipla/tratamento farmacológico , Adolescente , Encéfalo/patologia , Feminino , Humanos , Angiografia por Ressonância Magnética , Imageamento por Ressonância Magnética , Esclerose Múltipla/diagnóstico por imagem , Radiografia , Medula Espinal/patologia , Punção Espinal/efeitos adversos
8.
Riv Psichiatr ; 47(5): 400-6, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-23160050

RESUMO

AIM: The aim of the study is to evaluate the effectiveness of the Strength and Difficulties Questionnaire (SDQ) as a screening tool for emotional and behavioral problems in three different populations at risk. METHODS: The SDQ is a brief screening questionnaire that investigates the presence of emotional and behavioural problems in children and adolescents. We have analyzed 497 questionnaires completed by parents of children referred to Child Neuropsychiatry, Pediatric Endocrinology and Pediatric Oncology Units. RESULTS: Results indicate a higher presence of psychopathological disorders in Neuropsychiatry patients than Oncology and Endocrinology patients. Furthermore the Oncology patients have more emotional and behavioral problems than Endocrinology patients. DISCUSSION: The findings support the use of the SDQ questionnaire in the assessment of emotional and behavioral problems in these populations at risk. So the SDQ could be used by clinicians to detect early psychopathological disorder in children with different kind of chronic organic diseases.


Assuntos
Sintomas Afetivos/diagnóstico , Transtornos Mentais/diagnóstico , Inquéritos e Questionários , Adolescente , Criança , Pré-Escolar , Humanos , Itália , Pacientes Ambulatoriais
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