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1.
Pediatr Phys Ther ; 28(4): 475-82, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27661247

RESUMO

PURPOSE: To compare the effect of 2 different playground environments on the physical activity of children with ambulatory cerebral palsy during their playground play. METHODS: Five 7- to 8-year-old children with cerebral palsy (Gross Motor Functional Classification System [GMFCS] level II) participated. Using an alternating treatment, single-subject design, stride patterns were obtained using an activity monitor on an Americans with Disabilities Act (ADA)-compliant and noncompliant playground. Visual and statistical analysis of the stride data was used to analyze the effect of the playground environments. RESULTS: Four of the 5 participants increased the number of strides on an ADA-compliant playground. CONCLUSION: Children with cerebral palsy (GMFCS II) may benefit from an ADA-compliant playground to increase their physical activity.


Assuntos
Paralisia Cerebral/fisiopatologia , Meio Ambiente , Exercício Físico/fisiologia , Jogos e Brinquedos , Paralisia Cerebral/reabilitação , Criança , Crianças com Deficiência , Feminino , Humanos , Masculino
2.
Am J Med Genet A ; 170(8): 2012-21, 2016 08.
Artigo em Inglês | MEDLINE | ID: mdl-27273681

RESUMO

Health-related Quality of Life and the Impact of Childhood Neurologic Disability Scale were collected for 53 patients with CHARGE syndrome aged 13-39 years with a mean academic level of 4th grade. The most prevalent new and ongoing issues included bone health issues, sleep apnea, retinal detachment, anxiety, and aggression. Sleep issues were significantly correlated with anxiety, self-abuse, conduct problems, and autistic-like behaviors. Problems with overall health, behavior, and balance most affected the number of social activities in the individual's life. Sensory impairment most affected relationships with friends. Two contrasting case studies are presented and demonstrate that the quality of life exists on a broad spectrum in CHARGE syndrome, just as its physical features range from mild to very severe. A multitude of factors, including those beyond the physical manifestations, such as anxiety and sleep problems, influence quality of life and are important areas for intervention. © 2016 Wiley Periodicals, Inc.


Assuntos
Síndrome CHARGE/epidemiologia , Qualidade de Vida , Atividades Cotidianas , Adolescente , Adulto , Comportamento , Síndrome CHARGE/diagnóstico , Feminino , Humanos , Masculino , Testes Neuropsicológicos , Fenótipo , Exame Físico , Prevalência , Fatores de Risco , Inquéritos e Questionários , Adulto Jovem
3.
Am J Med Genet A ; 170A(4): 856-69, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26754144

RESUMO

The CHARGE Syndrome Foundation holds an International conference for families and professionals every other summer. In July, 2015, the 12th meeting was held in Schaumburg, Illinois, at the Renaissance Schaumburg Hotel. Day one of the 4-day conference was dedicated to professionals caring for and researching various aspects of CHARGE, including education, medical management, animal models, and stem cell-based approaches to understanding and treating individuals with CHARGE. Here, we summarize presentations from the meeting, including a synopsis of each of the three different breakout sessions (Medical/Clinical, Basic Science/CHD7, and Education), followed by a list of abstracts and authors for both platform and poster presentations.


Assuntos
Síndrome CHARGE/diagnóstico , Síndrome CHARGE/genética , Síndrome CHARGE/terapia , Animais , Humanos
4.
Clin Pediatr (Phila) ; 44(2): 151-9, 2005 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-15735833

RESUMO

Very little information has been published about adolescents and older individuals with Coloboma, Heart defects, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies and deafness (CHARGE) syndrome. This paper describes the results of a study that identifies the unique issues faced by adolescents and adults with CHARGE. Descriptive information was gathered from parents of patients with CHARGE, and/or the patients themselves, about their developmental, medical, educational, and social history. The resulting body of information provides important insights into the prognosis and special needs of individuals with CHARGE, as well as further research questions.


Assuntos
Atresia das Cóanas/complicações , Coloboma/complicações , Orelha/anormalidades , Genitália/anormalidades , Transtornos do Crescimento/complicações , Cardiopatias Congênitas/complicações , Atividades Cotidianas , Adolescente , Adulto , Atresia das Cóanas/diagnóstico , Atresia das Cóanas/psicologia , Coloboma/diagnóstico , Coloboma/psicologia , Feminino , Transtornos do Crescimento/diagnóstico , Transtornos do Crescimento/psicologia , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/psicologia , Humanos , Masculino , Avaliação das Necessidades , Prognóstico , Síndrome
5.
Am J Med Genet A ; 133A(3): 262-7, 2005 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-15641025

RESUMO

The "R" in the mnemonic "CHARGE" has historically stood for "Retardation of Growth and Development." Early medical reports describing mental retardation in CHARGE syndrome have not used convincing means to assess this attribute. This article investigated the range of developmental ability in individuals with CHARGE as measured through an adaptive behavior scale, the Adaptive Behavior Evaluation Scale (ABES) [Carney (1995): The Adaptive Behavior Evaluation Scale home version technical manual-revised. 126p.], over time. Parents of individuals with CHARGE syndrome were surveyed twice over a 4-year time span (N=100, 85) to obtain information about adaptive behavior and specific CHARGE characteristics. There was a significant decline in ABES scores over the 4-year period. However, at Time two, one-half of the children achieved a standard score above 70. Correlation and regression analyses at Time one and Time two revealed negative relationships between (a) age at walking, (b) degree of hearing impairment, (c) degree of visual impairment, and (d) medical involvement variables and the dependent variable, adaptive behavior. In both studies, age at walking was the best predictor of scores. Analysis of variance confirmed that medical involvement and degree of vision impairment were related to adaptive behavior scores because they were also related to age at walking. Age at walking and medical involvement at Time one were found to be significantly different between those who improved and declined in adaptive behavior scores over time. Adaptive behavior scores from both studies revealed a much broader and higher-reaching range of ability for this population than has been previously reported in the literature.


Assuntos
Anormalidades Múltiplas/fisiopatologia , Adaptação Psicológica/fisiologia , Coloboma/patologia , Cardiopatias Congênitas/patologia , Anormalidades Múltiplas/patologia , Adolescente , Adulto , Criança , Atresia das Cóanas/patologia , Surdez/patologia , Orelha/anormalidades , Saúde da Família , Feminino , Genitália/anormalidades , Transtornos do Crescimento/patologia , Humanos , Masculino , Análise de Regressão , Síndrome
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