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1.
J Intellect Disabil Res ; 68(4): 369-376, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38229473

RESUMO

BACKGROUND: Neurocognitive functioning is an integral phenotype of 22q11.2 deletion syndrome relating to severity of psychopathology and outcomes. A neurocognitive battery that could be administered remotely to assess multiple cognitive domains would be especially beneficial to research on rare genetic variants, where in-person assessment can be unavailable or burdensome. The current study compares in-person and remote assessments of the Penn computerised neurocognitive battery (CNB). METHODS: Participants (mean age = 17.82, SD = 6.94 years; 48% female) completed the CNB either in-person at a laboratory (n = 222) or remotely (n = 162). RESULTS: Results show that accuracy of CNB performance was equivalent across the two testing locations, while slight differences in speed were detected in 3 of the 11 tasks. CONCLUSIONS: These findings suggest that the CNB can be used in remote settings to assess multiple neurocognitive domains.


Assuntos
Síndrome de DiGeorge , Humanos , Feminino , Adolescente , Masculino , Síndrome de DiGeorge/complicações , Síndrome de DiGeorge/psicologia , Cognição , Testes Neuropsicológicos , Psicopatologia , Fenótipo
2.
Artigo em Inglês | MEDLINE | ID: mdl-10207761

RESUMO

The aim of the study was to determine whether surgically induced perineal neuropathy relates to the outcome of surgery for the correction of pelvic organ prolapse. Perineal nerve terminal motor latencies (PeNTML) were obtained in 31 women prior to and following transvaginal surgery for the correction of pelvic organ prolapse consisting of bilateral sacrospinous ligament vault suspension and bilateral paravaginal cystocele repair. Mean follow-up was 32 months (range 12-60). Surgical outcome was defined as optimal (asymptomatic, with the apex of the vagina above the levator plate with no tissue protruding beyond the hymen in the upright position with maximum Valsalva), or suboptimal (apical descent of > 50%, or any vaginal wall protrusion beyond the hymen in the upright position with maximum Valsalva). Surgically induced neuropathy was defined as an increase of 0.6 ms or more in the averaged right and left PeNTML measurements following the surgery. All women had preoperative symptomatic prolapse and the mean preoperative PeNTML was prolonged compared to established normals. Using strict definitions, 11 women had optimal outcome and 20 had suboptimal outcome. The outcome groups were similar with respect to age, weight, parity, degree of preoperative prolapse and preoperative perineal neuropathy. Eleven women had surgically induced perineal neuropathy. This was associated with suboptimal outcome compared to optimal outcome (P = 0.03). The relative risk of suboptimal outcome with surgically induced neuropathy was 1.82 (95% CI 1.13-2.93). It was concluded that a relationship exists between the outcome of organ prolapse surgery and surgically induced perineal neuropathy as measured by PeNTML. Such neuropathy may play a role in failed pelvic reconstructive surgery.


Assuntos
Doenças do Sistema Nervoso Periférico/etiologia , Complicações Pós-Operatórias/etiologia , Prolapso Uterino/cirurgia , Feminino , Seguimentos , Humanos , Pessoa de Meia-Idade , Diafragma da Pelve , Períneo/inervação , Doenças do Sistema Nervoso Periférico/diagnóstico , Complicações Pós-Operatórias/diagnóstico , Fatores de Tempo , Falha de Tratamento
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