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1.
Am J Perinatol ; 35(6): 578-582, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29695001

RESUMO

INTRODUCTION: From the prognostic perspective, the quality of the mother-child relationship during the first months of life has been variously associated with different factors such as the child's psychomotor/cognitive development and emotional-behavioral disorders. METHODS: The main aim of this study was to describe, at term age and 3 months of corrected age, the features and the prevalent patterns of the mother-child relationship in a group of 20 mother-preterm infant dyads and to compare them with those of a group of 20 mother-term infant dyads. RESULTS: A relatively high rate of inadequate dyadic synchrony was found in our sample of preterms at 40 weeks of gestational age (half of the sample analyzed). The quality of the dyadic relationship and the prevalent patterns of the mother-child relationship were found to differ between the two groups we studied; moreover, the subjects at risk of relational problems remained substantially the same during the first 3 months of life. DISCUSSION: These data underline that in preterm children, the first weeks of life, coinciding with their hospitalization, represent a crucial time for establishing a valid dyadic relationship and for considering and planning any preventive interventions; after all, the earlier the risk of relational problems becomes a real possibility, the more likely it is to negatively impact on a child's overall development.


Assuntos
Comportamento do Lactente/psicologia , Recém-Nascido Prematuro/psicologia , Relações Mãe-Filho , Nascimento a Termo , Desenvolvimento Infantil , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Itália , Masculino , Mães/psicologia
2.
Eur Child Adolesc Psychiatry ; 25(1): 91-106, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25925786

RESUMO

The past 20 years have seen the evolution of the construct of a clinical high-risk (hereafter, HR) state for psychosis. This construct is designed to capture the pre-psychotic phase. Some aspects of this approach, such as its feasibility in children and adolescents, are still under investigation. In the present study, we address the feasibility of implementing prodrome clinics for HR individuals within the framework of Italy's national child and adolescent neuropsychiatry services and the clinical relevance of a HR diagnosis in this population. Using the Comprehensive Assessment of At-Risk Mental States (CAARMS) to identify help-seeking patients meeting at least one HR criterion at baseline (HR+), we recruited 50 subjects for a feasibility study. The results obtained show that the Italian version of the CAARMS is easily administrable, causing patients no substantial discomfort. The prevalence of HR+ in our cohort was 44 %, which increased by an additional 18 % when negative symptoms were considered as an experimental inclusion criterion (HRNeg). The HR+ subjects were significantly more impaired in their social and occupational functioning than their HR- peers (subjects not at HR). The cumulative 1-year transition risk of psychosis of the HR+ group was 26.7 %. When the HRNeg group was added, the 1-year transition risk was 17.3 %. We suggest that administration of the CAARMS to children and adolescents with putative prodromal psychosis is feasible and that this assessment can easily be integrated into existing Italian neuropsychiatry services although clinicians should interpret results with caution as results in this age group still have to be replicated.


Assuntos
Serviços de Saúde Mental/normas , Escalas de Graduação Psiquiátrica/normas , Transtornos Psicóticos/diagnóstico , Transtornos Psicóticos/epidemiologia , Adolescente , Criança , Estudos de Coortes , Estudos Transversais , Estudos de Viabilidade , Feminino , Seguimentos , Humanos , Itália/epidemiologia , Masculino , Serviços de Saúde Mental/tendências , Estudos Prospectivos , Transtornos Psicóticos/terapia , Medição de Risco , Fatores de Risco
3.
J Headache Pain ; 16: 98, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26607363

RESUMO

BACKGROUND: Alexithymia is a personality construct characterized by difficulties in verbal emotional expression and a limited ability to use one's imagination. Evidence of alexithymic characteristics was found in adults suffering from headache, while little is known about children. The aim of this study was to establish the prevalence of alexithymia in two different subgroups of children and adolescents suffering from primary headache. We also looked for correlation between alexithymia in children and in their mothers. METHODS: This study involved 89 participants: 47 (11 males, 36 females, aged 8 to 17 years) suffering from tension-type headache (TTH), and 42 (18 males, 24 females, aged 8 to 17 years) suffering from migraine (M), based on the International Classification of Headache Disorders (ICHD 2013). A control group of 32 headache-free subjects (26 females and 6 males, aged 8 to 17 years) was also considered. Two questionnaires were administered to measure alexithymia: the Alexithymia Questionnaire for Children to young patients and controls, and the Toronto Alexithymia Scale (TAS-20) to the mothers. RESULTS: Higher rates of alexithymia emerged in the TTH group compared to the M group. In particular, TTH sufferers had difficulty identifying their feelings. The mothers of children with headaches didn't score higher in alexithymia compared to other mothers. In the M and in the control group, there was a significant correlation between the rates of alexithymia in young people and in their mothers. CONCLUSIONS: To date no other study has investigated alexithymia in subgroups of primary headaches in developmental age. Our results suggest that patients suffering from TTH are more alexithymic than M patients. This pave the way to etiopathogenetic and clinical considerations, calling for a comprehensive and multidisciplinary approach to tackle the problem of headache.


Assuntos
Transtornos de Enxaqueca/epidemiologia , Transtornos do Humor/epidemiologia , Cefaleia do Tipo Tensional/epidemiologia , Adolescente , Análise de Variância , Estudos de Casos e Controles , Criança , Feminino , Humanos , Masculino , Mães , Prevalência , Inquéritos e Questionários
4.
Biochem Biophys Res Commun ; 430(3): 957-62, 2013 Jan 18.
Artigo em Inglês | MEDLINE | ID: mdl-23261460

RESUMO

Molecular mechanisms relating interferon-alpha (IFN-alpha) to brain damage have recently been identified in a microarray analysis of cerebrospinal fluid lymphocytes from patients with Aicardi-Goutières Syndrome (AGS). These findings demonstrate that the inhibition of angiogenesis and the activation of neurotoxic lymphocytes are the major pathogenic mechanisms involved in the brain damage consequent to elevated interferon-alpha levels. Our previous study demonstrated that cathepsin D, a lysosomal aspartyl endopeptidase, is the primary mediator of the neurotoxicity exerted by AGS lymphocytes. Cathepsin D is a potent pro-apoptotic, neurotoxic, and demyelinating protease if it is not properly inhibited by the activities of leukocystatins. In central nervous system white matter, demyelination results from cathepsin over-expression when not balanced by the expression of its inhibitors. In the present study, we used RNA interference to inhibit cathepsin D expression in AGS lymphocytes with the aim of decreasing the neurotoxicity of these cells. Peripheral blood lymphocytes collected from an AGS patient were immortalized and co-cultured with astrocytes in the presence of interferon alpha with or without cathepsin D RNA interference probes. Cathepsin D expression was measured by qPCR, and neurotoxicity was evaluated by microscopy. RNA interference inhibited cathepsin D over-production by 2.6-fold (P<0.01) in AGS lymphocytes cultured in the presence of interferon alpha. AGS lymphocytes treated using RNA interference exhibited a decreased ability to induce neurotoxicity in astrocytes. Such neurotoxicity results in the inhibition of astrocyte growth and the inhibition of the ability of astrocytes to construct web-like aggregates. These results suggest a new strategy for repairing AGS lymphocytes in vitro by inhibiting their ability to induce astrocyte damage and leukodystrophy.


Assuntos
Astrócitos/patologia , Doenças Autoimunes do Sistema Nervoso/imunologia , Doenças Autoimunes do Sistema Nervoso/patologia , Catepsina D/antagonistas & inibidores , Linfócitos/imunologia , Proteínas do Tecido Nervoso/antagonistas & inibidores , Malformações do Sistema Nervoso/imunologia , Malformações do Sistema Nervoso/patologia , Astrócitos/imunologia , Catepsina D/genética , Linhagem Celular Tumoral , Humanos , Interferon-alfa/imunologia , Proteínas do Tecido Nervoso/genética , Interferência de RNA , RNA Interferente Pequeno/genética
5.
Lupus ; 22(10): 1064-9, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23918923

RESUMO

Aicardi-Goutières syndrome (AGS) is a rare genetic encephalopathy characterized by neurological and extraneurological involvement. A clinical overlap between AGS and systemic lupus erythematosus (SLE) has been reported. We describe an AGS patient who developed autoimmune manifestations: thyroiditis, cANCA positivity, antiphospholipid antibodies and cerebral ischemia. This first description of antiphospholipid syndrome in a TREX1-mutated patient further expands the clinical spectrum of AGS. Although the clinical overlap with SLE may indicate common pathogenic mechanisms, the autoimmune manifestations in AGS are so extensive that we suggest they should be considered a clinical feature of the disease, rather than a sign of coexistent SLE.


Assuntos
Doenças Autoimunes do Sistema Nervoso/imunologia , Exodesoxirribonucleases/genética , Sistema Imunitário/fisiologia , Mutação , Malformações do Sistema Nervoso/imunologia , Fosfoproteínas/genética , Doenças Autoimunes do Sistema Nervoso/genética , Pré-Escolar , Humanos , Lúpus Eritematoso Sistêmico/imunologia , Masculino , Malformações do Sistema Nervoso/genética
6.
Mutat Res ; 717(1-2): 99-108, 2011 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-21524657

RESUMO

Intracellular RNAses are involved in various functions, including microRNA maturation and turnover. Mutations occurring in genes encoding RNAses cause Aicardi-Goutiéres syndrome (AGS). AGS mutations silence RNAse activity, thus inducing accumulation of endogenous RNAs, mainly consisting of short RNAs and microRNAs. Overload of intracellular RNA triggers Toll like receptor-dependent interferon-alpha production in the brain, which in turn activates neurotoxic lymphocytes and inhibits angiogenesis thus inducing the typical clinical phenotype of AGS. However, these pathogenic mechanisms are attenuated after three years of age by the endogenous production of DNAJP58IPK and Cystatin F, which arrest AGS progression. Because RNAses are involved in microRNA turnover, we evaluated the expression of 957 microRNAs in lymphocytes from AGS patients and control patients. Our results indicate that microRNA overload occurs in AGS patients. This upregulation inhibits microRNA turnover impeding the synthesis of the novel microRNAs required for the differentiation and myelination of the brain during the initial period of postnatal life. These pathogenic mechanisms result in AGS, a neurological syndrome characterized by irritability, mild hyperpyrexia, pyramidal and extrapyramidal signs, and spastic-dystonic tetraplegia. Typical cerebrospinal fluid alterations include lymphocytosis and elevated interferon-alpha levels. Brain imaging demonstrates cerebral calcifications, white matter abnormalities, and progressive cerebral atrophy.Thus, evidence exists that mutations silencing intracellular RNases affect microRNA turnover resulting in the severe clinical consequences in the brain characterizing the clinical feature of AGS.


Assuntos
Doenças Autoimunes do Sistema Nervoso/enzimologia , Doenças Autoimunes do Sistema Nervoso/genética , Isoenzimas/deficiência , MicroRNAs/metabolismo , Malformações do Sistema Nervoso/enzimologia , Malformações do Sistema Nervoso/genética , Ribonucleases/deficiência , Animais , Doenças Autoimunes do Sistema Nervoso/patologia , Doenças Autoimunes do Sistema Nervoso/fisiopatologia , Criança , DNA/metabolismo , Feminino , Humanos , Isoenzimas/química , Isoenzimas/genética , Masculino , Modelos Moleculares , Malformações do Sistema Nervoso/patologia , Malformações do Sistema Nervoso/fisiopatologia , Estrutura Terciária de Proteína , RNA/metabolismo , Ribonucleases/química , Ribonucleases/genética
7.
Cephalalgia ; 30(2): 233-8, 2010 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-19438914

RESUMO

The mean age of onset of cluster headache (CH) is in the late third decade. Only few cases of childhood-onset (< 14 years) CH have been reported in the literature. We report the case of an 11-year-old boy who suffered from sudden attacks of shock-like, intense pain, localized in the right orbital region, with associated photophobia, phonophobia, conjunctival injection, lacrimation, nasal congestion, rhinorrhoea and psychomotor agitation. The episodes lasted 60-180 min, and the headache frequency was one to three per day. Physical and neurological examinations, magnetic resonance imaging and blood examinations were normal. The first bout lasted 8 months. Attacks were resistant to every symptomatic and partially to prophylactic treatment that has been tried. The second bout lasted approximately 2 months.


Assuntos
Cefaleia Histamínica/tratamento farmacológico , Cefaleia Histamínica/fisiopatologia , Corticosteroides/uso terapêutico , Analgésicos/uso terapêutico , Criança , Cefaleia Histamínica/complicações , Esotropia/complicações , Esotropia/cirurgia , Humanos , Masculino , Exame Neurológico , Testes Neuropsicológicos , Procedimentos Cirúrgicos Oftalmológicos
8.
Cephalalgia ; 30(6): 674-81, 2010 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-20511205

RESUMO

The long-term course of migraine with aura (MA) has been poorly explored. The present 11-year follow-up study assessed the long-term natural history and possible prognostic factors of MA with onset in childhood or adolescence. Patients were recruited from the original case records of our department, which are specifically designed to report all headache characteristics, aura symptoms and electroencephalogram (EEG) findings. A total of 77 patients (47 females; 30 males) whose records contained detailed descriptions of both headache and aura symptoms apparently meeting the International Classification of Headache Disorders (ICHD)-II criteria for MA (i.e., 1.2.1, 1.2.2, 1.2.6) underwent structured face-to-face follow-up headache interviews, all of which were conducted by the same neurologist, who has particular expertise in this field. A multivariate model (logistic regression analysis) was used to investigate the association between possible prognostic factors and the remission of both aura and headache at follow-up. The results of our study showed that 23.4% of the MA patients were headache-free at follow-up, 44.1% still had MA and 32.5% had a transformed headache diagnosis (i.e., fulfilling the criteria for ICHD-II 1.1. or 2). Patients with basilar-type migraine (1.2.6) showed the highest headache remission rate (38.5%). Our study seems to show that migraine with typical aura (1.2.1-1.2.2) is associated with a favourable evolution of aura symptoms over time (remission of aura in 54.1% of patients). Subjects experiencing only visual aura had a lower remission rate compared with those with visual +/- sensory +/- aphasic aura symptoms (36.8% vs. 61.5%, p = 0.054). A short headache duration (<12 hrs) and the presence of EEG abnormalities at baseline were the only significant predictors of aura remission at follow-up (odds ratio [OR] = 9.12, 95% confidence interval [CI]: 1.79 +/- 46.51, and OR = 4.76, 95% CI: 1.18 +/- 19.15, respectively). No significant predictors of headache remission were found. In conclusion, our results suggest that MA shows a favourable course. Further prospective studies with detailed EEG analysis both at baseline and at follow-up are needed in order to confirm the possible prognostic role of EEG abnormalities in MA. That said, it would, in our opinion, be highly premature at present to submit children with MA to EEG examinations for prognostication purposes.


Assuntos
Enxaqueca com Aura/fisiopatologia , Adolescente , Idade de Início , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Prognóstico
9.
Cephalalgia ; 30(12): 1486-94, 2010 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-20974611

RESUMO

AIMS: This study was planned to investigate the diagnostic utility of osmophobia as criterion for migraine without aura (MO) as proposed in the Appendix (A1.1) of the International Classification of Headache Disorders (ICHD-II, 2004). METHODS: We analysed 1020 patients presenting at 10 Italian juvenile headache centres, 622 affected by migraine (M) and 328 by tension-type headache (TTH); 70 were affected by headache not elsewhere classified (NEC) in ICHD-II. By using a semi-structured questionnaire, the prevalence of osmophobia was 26.9%, significantly higher in M than TTH patients (34.6% vs 14.3%). RESULTS: Osmophobia was correlated with: (i) family history of M and osmophobia; and (ii) other accompanying symptoms of M. By applying these 'new' criteria, we found an agreement with the current criteria for the diagnosis of migraine without aura (MO) in 96.2% of cases; 54.3% of previously unclassifiable patients received a 'new' diagnosis. CONCLUSIONS: In conclusion, this study demonstrates that this new approach, proposed in the Appendix (A1.1), appears easy to apply and should improve the diagnostic standard of ICHD-II in young patients too.


Assuntos
Transtornos de Enxaqueca/classificação , Transtornos de Enxaqueca/diagnóstico , Odorantes , Transtornos de Sensação/diagnóstico , Transtornos de Sensação/etiologia , Adolescente , Criança , Pré-Escolar , Humanos , Classificação Internacional de Doenças , Transtornos de Enxaqueca/complicações , Prevalência , Inquéritos e Questionários
10.
Acta Neurol Scand ; 122(2): 91-6, 2010 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-19804471

RESUMO

OBJECTIVE: To investigate the prevalence of mitral valve prolapse (MVP) and abnormalities of haemostasis in children and adolescents with migraine with aura (MA) compared with peers affected by other idiopathic headaches. MATERIALS AND METHODS: We recruited 20 MA patients (10 men and 10 women; age range 8-17 years) and 20 sex- and age-matched subjects with other idiopathic headaches. Both groups underwent colour Doppler transthoracic echocardiography to detect MVP and the following laboratory work-up: plasma prothrombin time, activated partial thromboplastin time, thrombin time, fibrinogen, protein C, protein S, homocysteine, lupus anticoagulant, von Willebrand factor (vWF) ristocetin cofactor activity, immunoglobulins (Ig) G and M anticardiolipin antibodies (aCL). Factor V Leiden, factor II and methylenetetrahydrofolate reductase were investigated (we did not test the entire genes, but screened for specific point mutations). RESULTS: The prevalence of MVP was significantly higher in the MA subjects than in the patients affected by other idiopathic headaches (40% vs 10%; P < 0.05). Moreover, the MA patients showed a higher rate of above-normal IgM aCL titres (45% vs 10%; P < 0.05). Finally, in the group of patients with MVP we found a higher prevalence of aCL in those with MA compared with those affected by other idiopathic headaches. CONCLUSIONS: A proportion, at least, of the MA patients showed a more complex phenotype characterized by MVP and/or positive aCL titres. The pathogenetic role of these associations is obscure and larger studies are needed to confirm the usefulness of echocardiographic and laboratory investigations in this area and to identify possible new treatment approaches that might be explored in this group of MA patients.


Assuntos
Transtornos da Coagulação Sanguínea/epidemiologia , Enxaqueca com Aura/epidemiologia , Prolapso da Valva Mitral/epidemiologia , Adolescente , Transtornos da Coagulação Sanguínea/genética , Testes de Coagulação Sanguínea , Criança , Comorbidade , Estudos Transversais , Ecocardiografia Doppler , Feminino , Triagem de Portadores Genéticos , Homozigoto , Humanos , Incidência , Masculino , Enxaqueca com Aura/genética , Prolapso da Valva Mitral/genética , Cefaleia do Tipo Tensional/epidemiologia
11.
J Matern Fetal Neonatal Med ; 33(1): 103-112, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30021468

RESUMO

Background: The literature shows that parents of preterm infants are at risk of psychological distress and that this may impact on the quality of the parent-child relationship and on the child's development.Aim: This longitudinal study was conducted to examine in preterm infants relationships between maternal psychological variables, parental protective factors, perinatal infant variables, and neurodevelopmental outcome. Furthermore, we explored the impact of these variables on the quality of the mother-infant relationship (dyadic synchrony).Subjects and methods: A total of 29 preterm infants (GA < 34 weeks) and their mothers were evaluated twice: at t0, during the infant's hospitalization in the neonatal intensive care unit (NICU), and at 12 months of infant corrected age (t2).Results: With the exception of decreases in anxiety and perceived social support and an increase in the rate of severe depression at follow-up, there were no significant changes between t0 and t1 assessments. The infant's perinatal risk status was the variable that impacted most on maternal psychopathology. Furthermore, our data revealed that baseline maternal stress related to the appearance of the child and to the mother's perception of her parenting role represent a risk factor in relation to developmental outcome at 12 months of corrected age. Finally, no correlations emerged between dyadic synchrony and infant perinatal data, maternal psychological variables (at t0 and at t1), or child developmental outcome at t1.Conclusions: Our results underline the need to identify negative maternal affective states early in the mother-child relationship and to provide mothers with adequate support in the NICU, to enhance their parental role.


Assuntos
Encéfalo/crescimento & desenvolvimento , Desenvolvimento Infantil/fisiologia , Recém-Nascido Prematuro/crescimento & desenvolvimento , Relações Mãe-Filho , Mães/psicologia , Estresse Psicológico , Adulto , Feminino , Humanos , Lactente , Cuidado do Lactente/psicologia , Recém-Nascido , Estudos Longitudinais , Masculino , Relações Mãe-Filho/psicologia , Poder Familiar/psicologia , Apoio Social , Estresse Psicológico/complicações , Estresse Psicológico/fisiopatologia , Estresse Psicológico/psicologia , Adulto Jovem
12.
J Affect Disord ; 257: 470-476, 2019 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-31310909

RESUMO

BACKGROUND: Preterm birth does not only affect infants but also represents an unexpected and traumatic event for parents. There are few reports on parenting stress during early infancy comparing preterm and term mothers, with the results being somewhat inconsistent. METHODS: As part of a longitudinal study, preterm mother-infant and term mother-infant dyads were enrolled. Dyads were assessed twice: during hospitalisation in the neonatal intensive care unit (NICU) and at 3 months of infant age (corrected age for preterm). Each mother completed a self-report set of psychological questionnaire in both time points. All the children underwent a neurological examination at 40 weeks post conceptional age and at 3 months (corrected age for preterm). RESULTS: 20 preterm and 20 term dyads were included. NICU mothers reported elevated postnatal depressive symptoms and high stress level, even if the preterm infants were with low perinatal risk and normal neurological examination. Comparing preterm infant with low perinatal risk and normal neurological examination with term-born children at 3 months, we found higher parental stress in term mothers than in preterm mothers. LIMITATIONS: This study was limited by a relatively small sample size; findings are preliminary and warrant further investigation in larger-scale study. CONCLUSIONS: Findings confirm that becoming a mother of a preterm infant is an event associated with emotional distress. These symptoms may resolve with time, and sometimes are independent of the infant's clinical severity. Assessing parental sources of stress and subsequent follow-up is essential to promote parental support, both for preterm and term mothers.


Assuntos
Depressão/psicologia , Recém-Nascido Prematuro , Mães/psicologia , Angústia Psicológica , Estresse Psicológico/psicologia , Adulto , Criança , Emoções , Feminino , Humanos , Lactente , Recém-Nascido , Unidades de Terapia Intensiva Neonatal , Estudos Longitudinais , Masculino , Projetos Piloto , Gravidez , Inquéritos e Questionários
13.
Childs Nerv Syst ; 24(12): 1437-45, 2008 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-18704447

RESUMO

AIM: The aim of the study was to evaluate the surgical treatment of epilepsy and detection of possible early surgery predictive elements in patients with tuberous sclerosis complex (TSC). MATERIALS AND METHODS: Forty-two TSC patients with epilepsy were selected and divided into two main groups: definite and fruste forms. Definite forms were divided into different groups: patients with pharmacologically controlled epilepsy, patients with pharmacoresistant epilepsy excluded from surgery after an extensive presurgical assessment, and patients with a pharmacoresistant epilepsy who underwent surgery. We compared the definite TSC groups to identify elements that predict surgical candidacy. Second, we compared all operated patients to assess surgical outcome. CONCLUSION: We found several factors that could predict a surgical intervention even if identification of patients with refractory epilepsy who can benefit from surgery is an evolving process. Also, several positive factors for good surgical outcome were identified. Patients with the fruste form had excellent surgical outcome.


Assuntos
Epilepsia/cirurgia , Esclerose Tuberosa/complicações , Adolescente , Adulto , Criança , Pré-Escolar , Epilepsia/complicações , Epilepsia/tratamento farmacológico , Feminino , Humanos , Masculino , Estudos Retrospectivos , Fatores de Risco , Resultado do Tratamento , Adulto Jovem
14.
Clin Pediatr (Phila) ; 46(9): 806-11, 2007 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-17641118

RESUMO

To date, studies addressing the role of pharmacotherapy in the treatment of anorexia nervosa are limited, especially in childhood and adolescence. The aim of this retrospective naturalistic study was to evaluate the efficacy and safety of pharmacotherapy in 19 anorexic preadolescents and adolescents referred, for the first time, to a specialist psychiatry unit. Almost all the patients showed an improvement both in their eating behaviors, and in their mood and obsessive symptoms. No evidence was found of dangerous adverse events. Combined with a multidisciplinary approach that includes nutritional rehabilitation and psychotherapy, adjunctive pharmacotherapy may be useful in addressing both eating disorder psychopathology and comorbid psychiatric disorders.


Assuntos
Anorexia Nervosa/tratamento farmacológico , Antidepressivos/uso terapêutico , Antipsicóticos/uso terapêutico , Adolescente , Antidepressivos/efeitos adversos , Antipsicóticos/efeitos adversos , Criança , Feminino , Humanos , Estudos Retrospectivos , Resultado do Tratamento
15.
Eur Psychiatry ; 40: 65-75, 2017 02.
Artigo em Inglês | MEDLINE | ID: mdl-27992836

RESUMO

BACKGROUND: Subjects at ultra high-risk (UHR) for psychosis have an enhanced vulnerability to develop the disorder but the risk factors accounting for this accrued risk are undetermined. METHOD: Systematic review of associations between genetic or environmental risk factors for psychosis that are widely established in the literature and UHR state, based on comparisons to controls. RESULTS: Forty-four studies encompassing 170 independent datasets and 54 risk factors were included. There were no studies on association between genetic or epigenetic risk factors and the UHR state that met the inclusion criteria. UHR subjects were more likely to show obstetric complications, tobacco use, physical inactivity, childhood trauma/emotional abuse/physical neglect, high perceived stress, childhood and adolescent low functioning, affective comorbidities, male gender, single status, unemployment and low educational level as compared to controls. CONCLUSIONS: The increased vulnerability of UHR subjects can be related to environmental risk factors like childhood trauma, adverse life events and affective dysfunction. The role of genetic and epigenetic risk factors awaits clarification.


Assuntos
Exposição Ambiental/estatística & dados numéricos , Transtornos Psicóticos/epidemiologia , Transtornos Psicóticos/psicologia , Meio Social , Adolescente , Meio Ambiente , Feminino , Humanos , Masculino , Escalas de Graduação Psiquiátrica , Fatores de Risco , Ajustamento Social
16.
Encephale ; 32(1 Pt 1): 60-6, 2006.
Artigo em Francês | MEDLINE | ID: mdl-16633291

RESUMO

INTRODUCTION: Feelings of envy and jealousy among brothers belonging to families with a child affected by a chronic neuromotor impairment have rarely been studied and literature on this subject is sparce. The interest of this work arises in particular from our experience with families and children suffering from this kind of disability. AIMS OF THE STUDY: The individuation of frequency and characteristics of overt or "hidden" emotional problems in brothers of handicapped children. Needs of the handicapped child lead to the partial disinvestment of the "healthy" one. We therefore focused our attention on the defensive mechanisms involved. METHOD: The work was carried out in the Rehabilitation Unit of our Department of Child Neuropsychiatry. We selected all the families in which a son exhibited severe neuromotor impairment, and we proposed some sessions with the parents and the healthy children. Only 10 families with 11 children accepted these sessions. We asked the other families to fill-in the Achenbach checklist (CBCL). Assessment of the 11 children seen was made with talks, drawing and playing sessions, and with an interview of the parents at the beginning and at the end of the sessions. RESULTS: We present the data of 33 CBCL filled-in and returned and of 11 psychodiagnostic observations. The CBCL showed 6 pathological and 5 borderline (with high psychopathological risk) total T scores. Among the 11 clinically observed children, 4 revealed a relevant psychopathological profile, so an individual psychotherapeutic therapy was proposed. These children expressed their emotional problems by difficult peer relationships, attention and concentration deficits and failure at school. Moreover, we found a significant correlation between a relevant child psychopathology, the fragile personality structure of the parents, and problems in the parental couple. CONCLUSIONS: These data stress the importance that must be given to emotional problems of handicapped children's brothers. Very often these children aren't able to express these problems, because either the parents' mental space is full of fears for the sick child's prognosis and care, and their "free" time is filled with hospitalisations, check-ups and rehabilitation. Our experience shows that giving attention and space for thoughts encourages emotional and relational movements, with a transforming value that leads to enhanced integration of emotional experiences.


Assuntos
Afeto , Sintomas Afetivos/diagnóstico , Mecanismos de Defesa , Necessidades e Demandas de Serviços de Saúde , Doenças Neuromusculares/psicologia , Irmãos/psicologia , Adolescente , Sintomas Afetivos/psicologia , Criança , Transtornos do Comportamento Infantil/diagnóstico , Transtornos do Comportamento Infantil/psicologia , Pré-Escolar , Doença Crônica , Feminino , Humanos , Ciúme , Masculino , Casamento , Doenças Neuromusculares/reabilitação , Relações Pais-Filho , Determinação da Personalidade/estatística & dados numéricos , Psicometria , Medição de Risco , Relações entre Irmãos
17.
J Child Neurol ; 31(9): 1174-80, 2016 08.
Artigo em Inglês | MEDLINE | ID: mdl-27250207

RESUMO

Glucose transporter type 1 deficiency syndrome is a genetically determined, treatable, neurologic disorder that is caused by an insufficient transport of glucose into the brain. It is caused by a mutation in the SCL2A1 gene, which is so far the only known to be associated with this condition. Glucose transporter type 1 deficiency syndrome consists of a wide clinical spectrum that usually presents with cognitive impairment, epilepsy, paroxysmal exercise-induced dyskinesia, acquired microcephaly, hemolytic anemia, gait disturbance, and dyspraxia in different combinations. However, there are other clinical manifestations that we consider equally peculiar but that have so far been poorly described in literature. In this review, supported by a video contribution, we will accurately describe this type of clinical manifestation such as oculogyric crises, weakness, paroxysmal kinesigenic and nonkinesigenic dyskinesia in order to provide an additional instrument for a correct, rapid diagnosis.


Assuntos
Erros Inatos do Metabolismo dos Carboidratos/diagnóstico , Erros Inatos do Metabolismo dos Carboidratos/fisiopatologia , Proteínas de Transporte de Monossacarídeos/deficiência , Adolescente , Erros Inatos do Metabolismo dos Carboidratos/genética , Criança , Pré-Escolar , Diagnóstico Diferencial , Progressão da Doença , Feminino , Transportador de Glucose Tipo 1/genética , Humanos , Lactente , Masculino , Proteínas de Transporte de Monossacarídeos/genética , Mutação , Fenótipo , Estudos Retrospectivos , Gravação em Vídeo , Adulto Jovem
18.
Neurology ; 52(9): 1910-3, 1999 Jun 10.
Artigo em Inglês | MEDLINE | ID: mdl-10371547

RESUMO

A family is described in which bilateral perisylvian polymicrogyria was present in 6 members of 3 consecutive generations. Typical anatomic and clinical findings of the syndrome, with a mild phenotype, were present in the 5 affected women from all 3 generations. More severe impairment was observed in the only affected male individual, a boy, in the third generation. Analysis of the pedigree and severity of the phenotype in the affected boy are consistent with transmission of an X-linked dominant trait, although other patterns of inheritance cannot be ruled out with certainty.


Assuntos
Córtex Cerebral/anormalidades , Epilepsia/genética , Epilepsia/fisiopatologia , Lateralidade Funcional/fisiologia , Adulto , Encéfalo/patologia , Encéfalo/fisiopatologia , Criança , Eletroencefalografia , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Linhagem
19.
J Autism Dev Disord ; 19(1): 109-17, 1989 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-2708294

RESUMO

The hypothesis that specific computerized tomography brain-scan findings are associated with infantile autism was tested in 45 cases and 19 controls. The autistic group was subdivided into serious and less-serious language-impaired subgroups. The analysis of Euclidean Distances, a type of cluster analysis, showed that neuroradiological parameters of cases and controls, including ventricular sizes, were on the whole significantly different, but no statistically significant difference appeared between the two autistic subgroups. But the analysis of variance of each neuroradiological parameter did not show any significant difference between autistics and controls. It was concluded that autism is nonspecifically associated with brain-scan abnormalities, and that other nonorganic, as well as organic, factors should be taken into account.


Assuntos
Transtorno Autístico/diagnóstico por imagem , Encéfalo/diagnóstico por imagem , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Tomografia Computadorizada por Raios X
20.
Brain Dev ; 21(8): 522-8, 1999 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-10598052

RESUMO

Stereotyped behaviours occur frequently in blind children. Most authors attribute stereotyped mannerisms to factors such as hospitalisation, motor limitations, and reduced capacity for exploration. There seems to be a specific association between blindness and behavioural mannerisms, such as eye pressing and eye poking, which have been observed in children with peripheral blindness. We studied the prevalence of stereotyped motor behaviours in a sample of congenitally blind children with and without other neurodevelopmental disabilities in order to assess the types and features of such stereotyped behavioural traits. Twenty-six congenitally blind children (11 male and 15 female) were assessed through videotape recording and through a questionnaire focusing on the type, frequency, form of manifestation and duration of the children's stereotyped behaviours. Stereotyped behavioural traits were observed in 19 (73%) of the patients. Stereotyped behaviours most frequently observed were body rocking (8; 30.7%), repetitive handling of objects (8; 30.7%), hand and finger movements (7; 26.9%), eye pressing and eye poking (8; 30.7%), and lying face downwards (6; 22.8%) and jumping (3; 11.4%). We found that a reduction in stereotyped behavioural traits could be obtained by stimulating appropriate adaptive behaviour in children, while these behaviours were increased by restricted environmental conditions, reduced sensory stimulation and reduced motility.


Assuntos
Cegueira/complicações , Transtorno de Movimento Estereotipado/etiologia , Transtorno de Movimento Estereotipado/fisiopatologia , Pré-Escolar , Deficiências do Desenvolvimento/patologia , Deficiências do Desenvolvimento/fisiopatologia , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Inquéritos e Questionários
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