Mental Retardation Diagnosis
Mostrando 1-12 de 75 artigos, teses e dissertações.
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1. WAGRO syndrome: a rare genetic condition associated with aniridia and additional ophthalmologic abnormalities
RESUMO A aniridia é uma doença ocular congênita com grau variável de hipoplasia ou ausência do tecido da íris. É causada pela perda de função do gene PAX6 e pode ser uma anormalidade ocular isolada ou parte de uma síndrome. WAGRO refere-se a uma condição genética rara que leva ao tumor de Wilms, aniridia, anomalias geniturinárias, déficit inte
Arq. Bras. Oftalmol.. Publicado em: 20/05/2019
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2. Child and Adolescent Psychosocial Care Center service use profile in Brazil: 2008 to 2012
Objective: To describe the service use profile of Child and Adolescent Psychosocial Care Centers (Centro de Atenção Psicossocial Infanto-Juvenil [CAPSi]) in Brazil regarding diagnostic categories, sociodemographic aspects, and care modalities between 2008 and 2012. Methods: A descriptive, ecological study was performed using data from the Unified Health
Braz. J. Psychiatry.. Publicado em: 06/12/2018
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3. Auditory Neuropathy/Dyssynchrony: A Retrospective Analysis of 15 Cases
Introduction Auditory neuropathy/dyssynchrony (AN/AD) comprises a spectrum of pathology affecting the auditory pathways anywhere from the inner hair cells to the brainstem. It is characterized by an absent or atypical auditory brainstem response (ABR) with preservation of the cochlear microphonics and/or otoacoustic emissions (OAEs).
Int. Arch. Otorhinolaryngol.. Publicado em: 2015-06
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4. Association of child maltreatment and psychiatric diagnosis in Brazilian children and adolescents
OBJECTIVES: The objective of this study was to evaluate the association between different types of child maltreatment and the presence of psychiatric disorders in highly vulnerable children and adolescents served by a multidisciplinary program. METHODS: In total, 351 patients with a mean age of 12.47, of whom 68.7% were male and 82.1% lived in shelters, u
Clinics. Publicado em: 2013
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5. Detecção da microdeleção 7q11.23 por MLPA® e estudo clínico dos pacientes com síndrome de Williams-Beuren / Detection of the microdeletion 7q11.23 by MLPA® and clinical study of patients with Williams-Beuren syndrome
INTRODUCTION: Williams-Beuren syndrome (WBS) is a genetic disorder caused by a microdeletion in 7q11.23 region. It is characterized by typical facial dysmorphisms, mental retardation, hipersociable behavior, congenital heart disease, mainly supravalvular aortic stenosis (SVAS), and other variable congenital malformations. METHODS: 65 patients (40 males, 25 f
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 30/05/2012
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6. DESAFIOS NA AVALIAÇÃO GENÉTICO-MOLECULAR DE PACIENTES COM SUSPEITA DA SÍNDROME DO X-FRÁGIL ATENDIDOS NA REDE PÚBLICA DE SAÚDE DO ESTADO DE GOIÁS
A Deficiência Intelectual (DI) é definida como uma incapacidade caracterizada por limitações significativas, tanto no funcionamento intelectual quanto no comportamento adaptativo e está expressa nas habilidades práticas, sociais e conceituais, originando-se antes dos 18 anos de idade. É um dos transtornos neuropsiquiátricos mais comuns em crianças e
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 08/12/2011
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7. Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers
INTRODUCTION: Williams-Beuren syndrome (WBS; OMIM 194050) is caused by a hemizygous contiguous gene microdeletion at 7q11.23. Supravalvular aortic stenosis, mental retardation, overfriendliness, and ocular and renal abnormalities comprise typical symptoms in WBS. Although fluorescence in situ hybridization is widely used for diagnostic confirmation, microsat
Clinics. Publicado em: 2011
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8. Análise de marcadores moleculares para o diagnóstico da síndrome de Williams-Beuren / Analysis of microsatellite DNA markers in the diagnosis of Williams- Beuren syndrome
INTRODUCTION: Williams-Beuren syndrome (WBS; OMIM 194050) is caused by hemizygous contiguous gene microdeletions at 7q11.23. Typical facies, supravalvular aortic stenosis (SVAS), mental retardation, overfriendliness and hiperacusis comprise typical symptoms in WBS. The most common deletion is 1.55 Mb, however 1.84 Mb deletion also has been described. Althoug
Publicado em: 2011
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9. Biochemical diagnosis of creatine deficiency syndromes / Diagnóstico bioquímico das síndromes de deficiência de creatina
Recently, a new group of inborn errors of metabolism, collectively named as creatine deficiency syndrome, was identified. Three genetically determined presentations are currently known, affecting both creatine synthesis and transport. Clinical presentation spectrum is non-specific and includes developmental delay, hypotonia, involuntary movements as choreoat
Publicado em: 2010
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10. Manifestações bucais em pacientes com síndrome de Kabuki
Kabuki syndrome (KS, Kabuki make-up syndrome, Niikawa-Kuroki syndrome) is a rare genetic disorder characterized by multiple congenital anomalies and mental retardation. The diagnosis is clinical and based on the findings described simultaneously in independent studies of two groups in Japan. The sample comprised sixteen KS individuals diagnosed by Department
Publicado em: 2010
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11. Avaliação clínico-laboratorial de pacientes com síndrome de Kabuki / Clinical and laboratorial evaluation of patients with Kabuki syndrome
INTRODUCTION: Kabuki syndrome (KS) is a genetic disease which cardinal manifestations are: facial dysmorfism, short stature of postnatal onset, skeletal abnormalities, mental retardation and abnormal dermatolyphics. Beside these manifestations, abnormalities of every organ system, has been described. The diagnosis is clinical. OBJECTIVES: The objective is to
Publicado em: 2009
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12. Avaliação odontológica em pacientes com síndrome de Kabuki / Dental evaluation of Kabuki syndrome patients
INTODUCTION: Kabuki syndrome (KS) is a genetic disorder of unknown etiology characterized by moderate to severe mental retardation, postnatal growth deficiency, and peculiar face with long palpebral fissures and eversion of the lateral third of the lower eyelids, prominent ears and broad and depressed nasal tip. Oral manifestations are commonly observed in K
Publicado em: 2009