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1.
Psychiatr Serv ; 73(12): 1389-1392, 2022 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-35734865

RESUMO

OBJECTIVE: The authors examined how the COVID-19 pandemic affected the behavioral health of people with intellectual and developmental disabilities (IDD). METHODS: A modified version of the Coronavirus Health Impact Survey-Adapted for Autism and Related Neurodevelopmental Conditions was sent to the authors' clinical networks and IDD-affiliated organizations from March to June 2021. RESULTS: In total, 437 people with IDD or their caregivers responded to the survey. Diagnoses included intellectual disability (51%) and autism spectrum disorder (48%). More than half (52%) of respondents reported worsened mental health. Losing access to services correlated with declining mental health. Interventions suggested to improve behavioral health included more time with friends and family (68%), more time outdoors (61%), and access to community activities (59%). CONCLUSIONS: COVID-19 affected the behavioral health of individuals with IDD. Survey results highlight the opportunity to leverage physical activity and pandemic-safe social supports as accessible means to mitigate gaps in services.


Assuntos
Transtorno do Espectro Autista , COVID-19 , Deficiência Intelectual , Criança , Humanos , COVID-19/epidemiologia , Pandemias , Deficiências do Desenvolvimento/epidemiologia , Deficiências do Desenvolvimento/terapia , Transtorno do Espectro Autista/epidemiologia , Transtorno do Espectro Autista/terapia , Deficiência Intelectual/epidemiologia , Deficiência Intelectual/psicologia
2.
Biol Psychiatry ; 55(10): 981-8, 2004 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-15121481

RESUMO

BACKGROUND: Genes involved in phosphoinositide (PI) lipid metabolism are excellent candidates to consider in the pathogenesis of bipolar disorder (BD) and schizophrenia (SZ). One is PIK3C3, a member of the phosphatidylinositide 3-kinase family that maps closely to markers on 18q linked to both BD and SZ in a few studies. METHODS: The promoter region of PIK3C3 was analyzed for mutations by single-strand conformation polymorphism analysis and sequencing. A case-control association study was conducted to determine the distribution of variant alleles in unrelated patients from three cohorts. Electromobility gel shift assays (EMSA) were performed to assess the functional significance of variants. RESULTS: Two polymorphisms in complete linked disequilibrium with each other were identified, -432C- > T and a "C" insert at position -86. The -432T allele occurs within an octamer containing an ATTT motif resembling members of the POU family of transcription factors. In each population analyzed, an increase in -432T was found in patients. EMSAs showed that a -432T containing oligonucleotide binds to brain proteins that do not recognize -432C. CONCLUSIONS: A promoter mutation in a PI regulator affecting the binding of a POU-type transcription factor may be involved in BD and SZ in a subset of patients.


Assuntos
Transtorno Bipolar/genética , Variação Genética , Fosfatidilinositol 3-Quinases/genética , Regiões Promotoras Genéticas , Esquizofrenia/genética , Alelos , Animais , Transtorno Bipolar/complicações , Encéfalo/metabolismo , Estudos de Casos e Controles , Distribuição de Qui-Quadrado , Estudos de Coortes , Sequência Consenso , Análise Mutacional de DNA/métodos , Ensaio de Desvio de Mobilidade Eletroforética/métodos , Genótipo , Coração , Humanos , Rim , Desequilíbrio de Ligação , Fígado , Camundongos , Mutação , Reação em Cadeia da Polimerase/métodos , Polimorfismo Conformacional de Fita Simples , Esquizofrenia/complicações
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