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J Clin Neuromuscul Dis ; 19(1): 19-26, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28827485


OBJECTIVE: To characterize the pattern and extent of muscle weakness and impact on physical functioning in adults with GNEM. METHODS: Strength and function were assessed in GNEM subjects (n = 47) using hand-held dynamometry, manual muscle testing, upper and lower extremity functional capacity tests, and the GNEM-Functional Activity Scale (GNEM-FAS). RESULTS: Profound upper and lower muscle weakness was measured using hand-held dynamometry in a characteristic pattern, previously described. Functional tests and clinician-reported outcomes demonstrated the consequence of muscle weakness on physical functioning. CONCLUSIONS: The characteristic pattern of upper and lower muscle weakness associated with GNEM and the resulting functional limitations can be reliably measured using these clinical outcome assessments of muscle strength and function.

Força Muscular/genética , Debilidade Muscular/etiologia , Músculo Esquelético/fisiopatologia , Miosite de Corpos de Inclusão/congênito , Adolescente , Adulto , Idoso , Feminino , Humanos , Extremidade Inferior/fisiopatologia , Masculino , Pessoa de Meia-Idade , Atividade Motora/genética , Miosite de Corpos de Inclusão/complicações , Miosite de Corpos de Inclusão/genética , Ácido N-Acetilneuramínico/genética , Adulto Jovem
Disabil Health J ; 10(3): 413-418, 2017 07.
Artigo em Inglês | MEDLINE | ID: mdl-28428111


BACKGROUND: Little is known about pregnancy rates in women with disabilities in general and even less is known about women with child-onset disabilities such as cerebral palsy (CP). HYPOTHESIS: We hypothesized that discussions about pregnancy with healthcare providers and pregnancy rates for woman with CP would be related to their functional levels. METHODS: Survey methodology was used to gather information about demographics, function, whether women were asked about their desire for children, pregnancy outcomes, and services offered during pregnancy and postpartum. RESULTS: Of the 375 women with CP who participated in the survey, 76 (20%) reported 149 pregnancies resulting in 100 live births. Using Chi square statistics, mobility, manual dexterity, and communication function were significantly higher in women who were queried about or who experienced pregnancy. More than half of the women experienced a loss of mobility during pregnancy but few received referrals for physical or occupational therapy. Few reported screening for postpartum depression. A higher rate of Cesarean sections (50.4%), preterm births (12.1%), low birth weight infants (15.7%), and very low birth weight infants (7.1%) was reported by women with CP compared to national statistics. CONCLUSIONS: Pregnancy rates and discussions were related to functional levels. As 20% of women with CP surveyed experienced pregnancy, there is a need to increase awareness, education, support, and advocacy for achievement of optimal reproductive health. More research is needed to identify factors contributing to maternal and infant health in women with CP.

Paralisia Cerebral/epidemiologia , Pessoas com Deficiência/estatística & dados numéricos , Serviços de Saúde Materna/estatística & dados numéricos , Resultado da Gravidez/epidemiologia , Atividades Cotidianas , Adolescente , Adulto , Idoso , Feminino , Humanos , Recém-Nascido , Pessoa de Meia-Idade , Vigilância da População , Gravidez , Estados Unidos/epidemiologia , Adulto Jovem
Dev Med Child Neurol ; 52(3): 264-9, 2010 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-20089048


AIM: Multiple impairments contribute to motor deficits in spastic cerebral palsy (CP). Selective voluntary motor control (SVMC), namely isolation of joint movement upon request, is important, but frequently overlooked. This study evaluated the proximal to distal distribution of SVMC impairment among lower extremity joints. METHOD: Using a recently developed tool, the Selective Control Assessment of the Lower Extremity (SCALE), we evaluated the SVMC of the hip, knee, ankle, subtalar joint, and toes in a cross-sectional, observational study of 47 participants with spastic, diplegic, hemiplegic, and quadriplegic CP (22 males, 25 females; mean age 11 y 9 mo, SD 4 y 8 mo; Gross Motor Function Classification System levels I-IV). RESULTS: Statistically significant decreases in SCALE scores from hip to toes were found using the Page statistical test for trend (p<0.001). Statistically significant differences (p<0.05) were found between all joint pairs, except toes versus subtalar, toes versus ankle, and right ankle versus subtalar joints. Cross-tabulation of score frequencies for all pairs revealed that proximal joint scores were higher or equal to distal ones 81 to 100% of the time. Excluding toes versus subtalar joints, proximal scores exceeded distal ones 94 to 100% of the time. INTERPRETATION: We confirmed increasing proximal to distal SVMC impairment, which may have implications for treatment and research.

Paralisia Cerebral/epidemiologia , Paralisia Cerebral/fisiopatologia , Extremidade Inferior/fisiopatologia , Transtornos das Habilidades Motoras/epidemiologia , Transtornos das Habilidades Motoras/fisiopatologia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Transtornos das Habilidades Motoras/diagnóstico , Contração Muscular/fisiologia , Debilidade Muscular/epidemiologia , Debilidade Muscular/fisiopatologia , Índice de Gravidade de Doença , Inquéritos e Questionários , Adulto Jovem
Dev Med Child Neurol ; 51(8): 607-14, 2009 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-19220390


Normal selective voluntary motor control (SVMC) can be defined as the ability to perform isolated joint movement without using mass flexor/extensor patterns or undesired movement at other joints, such as mirroring. SVMC is an important determinant of function, yet a valid, reliable assessment tool is lacking. The Selective Control Assessment of the Lower Extremity (SCALE) is a clinical tool developed to quantify SVMC in patients with cerebral palsy (CP). This paper describes the development, utility, validation, and interrater reliability of SCALE. Content validity was based on review by 14 experienced clinicians. Mean agreement was 91.9% (range 71.4-100%) for statements about content, administration, and grading. SCALE scores were compared with Gross Motor Function Classification System Expanded and Revised (GMFCS-ER) levels for 51 participants with spastic diplegic, hemiplegic, and quadriplegic CP (GMFCS levels I - IV, 21 males, 30 females; mean age 11y 11mo [SD 4y 9mo]; range 5-23y). Construct validity was supported by significant inverse correlation (Spearman's r=-0.83, p<0.001) between SCALE scores and GMFCS levels. Six clinicians rated 20 participants with spastic CP (seven males, 13 females, mean age 12y 3mo [SD 5y 5mo], range 7-23y) using SCALE. A high level of interrater reliability was demonstrated by intraclass correlation coefficients ranging from 0.88 to 0.91 (p<0.001).

Paralisia Cerebral/fisiopatologia , Indicadores Básicos de Saúde , Perna (Membro)/fisiopatologia , Atividade Motora/fisiologia , Paresia/diagnóstico , Paresia/fisiopatologia , Adolescente , Paralisia Cerebral/complicações , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Músculo Esquelético/fisiopatologia , Paresia/etiologia , Valor Preditivo dos Testes , Amplitude de Movimento Articular/fisiologia , Reprodutibilidade dos Testes , Adulto Jovem