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1.
Int J Methods Psychiatr Res ; 31(1): e1903, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-34952999

RESUMO

OBJECTIVES: To estimate the prevalence of ADHD, and related comorbidities, mortality, and type of health service use among children and young adults, using different case definitions. METHODS: We conducted a population-based retrospective cohort study between 2000 and 2018, using the Quebec Integrated Chronic Disease Surveillance System (QICDSS) database. All residents aged less than 25 years eligible for health insurance coverage were included. We compared outcomes of three indicators (morbidity, services use and mortality) according two different algorithms of ADHD definitions, to the general population. RESULTS: The cumulative prevalence of ADHD has risen steadily over the past decade, reaching 12.6% in 2017-2018. People with ADHD have a higher prevalence of psychiatric comorbidities, make greater use of medical, mental health services, and are hospitalized more often. The comparison of prevalence between the two algorithms and the general population for the three indicators showed that the cohort having one claim was very close to that with two or more, and statistically significant higher to that of people without ADHD. CONCLUSION: This finding support that a single claim algorithm for ADHD can be used for case definition. More research is needed on the impact of potentially effective treatments in improving consequences of ADHD.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Criança , Estudos de Coortes , Comorbidade , Humanos , Longevidade , Prevalência , Estudos Retrospectivos , Adulto Jovem
2.
Clin Child Psychol Psychiatry ; 22(4): 572-587, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-27635028

RESUMO

BACKGROUND: Individuals with sensory regulation disorders present with many difficulties in terms of managing emotions, behavior, and motor control. Children with such difficulties are often referred to psychiatric clinics for assessment of their behavioral and emotional problems. Few studies have investigated the role of environmental factors on sensory dysfunctions, and none have specifically studied its association with child attachment in a clinical sample. OBJECTIVE: In this cross-sectional study, we examined the association between sensory regulation and child attachment among preschoolers referred to a psychiatric clinic. METHOD: A sample of 60 preschoolers and their mothers were recruited through a child psychiatric clinic. Child attachment was assessed with the gold standard separation-reunion procedure for preschoolers. Parents completed the sensory profile, which assesses the presence of child hypersensitivity (sensitivity and avoidant scale) and hyposensitivity (sensory seeking and registration scale). RESULTS: Data showed that 57% of the children were presented with clinical symptoms of sensory regulation. In addition, 53% of the children were classified insecure behaviorally disorganized or insecure disorganized controlling. In particular, results revealed that children classified as insecure disorganized controlling were significantly more likely to show hypersensitivity avoidance and sensory-seeking behaviors. CONCLUSION: This study underscores the importance of the parent-child relationship for children with sensory regulation difficulties.


Assuntos
Transtornos do Comportamento Infantil/fisiopatologia , Relações Mãe-Filho , Apego ao Objeto , Autocontrole , Transtornos do Comportamento Infantil/classificação , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Masculino , Relações Mãe-Filho/psicologia , Autocontrole/psicologia
3.
Hum Mutat ; 34(2): 385-94, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23161826

RESUMO

De novo mutations in SYNGAP1, which codes for a RAS/RAP GTP-activating protein, cause nonsyndromic intellectual disability (NSID). All disease-causing point mutations identified until now in SYNGAP1 are truncating, raising the possibility of an association between this type of mutations and NSID. Here, we report the identification of the first pathogenic missense mutations (c.1084T>C [p.W362R], c.1685C>T [p.P562L]) and three novel truncating mutations (c.283dupC [p.H95PfsX5], c.2212_2213del [p.S738X], and (c.2184del [p.N729TfsX31]) in SYNGAP1 in patients with NSID. A subset of these patients also showed ataxia, autism, and a specific form of generalized epilepsy that can be refractory to treatment. All of these mutations occurred de novo, except c.283dupC, which was inherited from a father who is a mosaic. Biolistic transfection of wild-type SYNGAP1 in pyramidal cells from cortical organotypic cultures significantly reduced activity-dependent phosphorylated extracellular signal-regulated kinase (pERK) levels. In contrast, constructs expressing p.W362R, p.P562L, or the previously described p.R579X had no significant effect on pERK levels. These experiments suggest that the de novo missense mutations, p.R579X, and possibly all the other truncating mutations in SYNGAP1 result in a loss of its function. Moreover, our study confirms the involvement of SYNGAP1 in autism while providing novel insight into the epileptic manifestations associated with its disruption.


Assuntos
Transtorno Autístico/genética , Epilepsia/genética , Haploinsuficiência , Deficiência Intelectual/genética , Proteínas Ativadoras de ras GTPase/genética , Adolescente , Sequência de Aminoácidos , Transtorno Autístico/fisiopatologia , Western Blotting , Criança , Pré-Escolar , Clonagem Molecular , Epilepsia/fisiopatologia , Exoma , MAP Quinases Reguladas por Sinal Extracelular/genética , Feminino , Células HEK293 , Humanos , Deficiência Intelectual/fisiopatologia , Masculino , Dados de Sequência Molecular , Mutação de Sentido Incorreto , Fenótipo , Fosforilação , Conformação Proteica , Análise de Sequência de DNA , Transfecção , Proteínas Ativadoras de ras GTPase/metabolismo
4.
Dev Psychopathol ; 19(1): 23-36, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17241482

RESUMO

Autistic adults display enhanced and locally oriented low-level perception of static visual information, but diminished perception of some types of movement. The identification of potential precursors, such as atypical perceptual processing, among very young children would be an initial step toward understanding the development of these phenomena. The purpose of this study was to provide an initial measure and interpretation of atypical visual exploratory behaviors toward inanimate objects (AVEBIOs) among young children with autism. A coding system for AVEBIOs was constructed from a corpus of 40 semistandardized assessments of autistic children. The most frequent atypical visual behavior among 15 children aged 33-73 months was lateral glance that was mostly oriented toward moving stimuli and was detected reliably by the experimenters (intraclass correlation > .90). This behavior was more common among autistic than typically developing children of similar verbal mental age and chronological age. As lateral vision is associated with the filtering of high spatial frequency (detail perception) information and the facilitation of high temporal frequencies (movement perception), its high prevalence among very young autistic children may reflect early attempts to regulate and/or optimize both excessive amounts of local information and diminished perception of movement. These findings are initial evidence for the need to consider the neural bases and development of atypical behaviors and their implications for intervention strategies.


Assuntos
Transtorno Autístico/fisiopatologia , Percepção de Movimento , Campos Visuais/fisiologia , Percepção Visual/fisiologia , Adolescente , Fatores Etários , Pré-Escolar , Feminino , Humanos , Masculino , Fatores de Tempo
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