RESUMEN
The aim of the study was to assess various aspects of visual and visuoperceptual function in patients with Noonan syndrome (NS) or LEOPARD syndrome (LS) with mutations affecting the PTPN11, SOS1 and RAF1 genes. Twenty-four patients were assessed with a battery of tests assessing visual function including ophthalmological and orthoptic evaluation and age appropriate behavioural visual tests, including measures of crowding acuity (Cambridge crowding cards), and stereopsis (TNO test). Twenty-one subjects were also assessed with the visuo-motor integration (VMI) test. Twenty of the 24 patients (83%) had abnormalities of visual function on at least one of the tests used to assess visual function or on ophthalmological examination, and 7 of 21 (33%) also had abnormalities on VMI. Ocular movements and stereopsis were most frequently abnormal (50% and 79%, respectively). Our results suggest that visual and visuoperceptual abilities are commonly impaired in patients with Noonan and LEOPARD syndrome and they are probably related to a multifactorial etiology.
Asunto(s)
Síndrome LEOPARD/diagnóstico , Síndrome de Noonan/diagnóstico , Trastornos de la Percepción/diagnóstico , Trastornos de la Visión/diagnóstico , Percepción Visual , Adolescente , Adulto , Niño , Análisis Mutacional de ADN , Percepción de Profundidad/genética , Femenino , Genotipo , Humanos , Síndrome LEOPARD/genética , Masculino , Síndrome de Noonan/genética , Trastornos de la Motilidad Ocular/diagnóstico , Trastornos de la Motilidad Ocular/genética , Trastornos de la Percepción/genética , Fenotipo , Proteína Tirosina Fosfatasa no Receptora Tipo 11/genética , Proteínas Proto-Oncogénicas c-raf/genética , Trastornos Psicomotores/diagnóstico , Trastornos Psicomotores/genética , Proteína SOS1/genética , Trastornos de la Visión/genética , Pruebas de Visión , Agudeza Visual/genética , Adulto JovenRESUMEN
The aim of this study was to validate the Hammersmith functional motor scale for children with spinal muscular atrophy in a large cohort of 90 non-ambulant children with spinal muscular atrophy type 2 or 3. All had a baseline assessment (T0) and were reassessed either at 3 months (T1) (n = 66) or at 6 months (T2) (n = 24). Inter-observer reliability, tested on 13 children among 3 examiners, was > 95%. Of the 66 children examined after 3 months 4 had adverse effects in between assessments and were excluded from the analysis. Forty-two (68%) of the remaining 62 reassessed had no variation in scores between T0 and T1 and 13 (21%) were within +/- 1 point. 9 (37.5%) of the 24 children reassessed after 6 months had no variation in scores between T0 and T2 and another 9 (37.5%) had variations within +/- 1 point. Our study confirms previous observations of the reliability of the scale and helps to establish a baseline for assessing changes of functional ability over 3 and 6 month intervals. This information can be valuable in view of therapeutic trials.
Asunto(s)
Neuronas Motoras/fisiología , Desempeño Psicomotor , Atrofias Musculares Espinales de la Infancia/fisiopatología , Niño , Preescolar , Estudios de Cohortes , Interpretación Estadística de Datos , Femenino , Humanos , Italia , Masculino , Variaciones Dependientes del Observador , Estudios Prospectivos , Análisis de Regresión , Reproducibilidad de los Resultados , Factores de Tiempo , Reino UnidoRESUMEN
OBJECTIVE: To assess the efficacy of phenylbutyrate (PB) in patients with spinal muscular atrophy in a randomized, double-blind, placebo-controlled trial involving 10 Italian centers. METHODS: One hundred seven children were assigned to receive PB (500 mg/kg/day) or matching placebo on an intermittent regimen (7 days on/7 days off) for 13 weeks. The Hammersmith functional motor scale (primary outcome measure), myometry, and forced vital capacity were assessed at baseline and at weeks 5 and 13. RESULTS: Between January and September 2004, 107 patients aged 30 to 154 months were enrolled. PB was well tolerated, with only one child withdrawing because of adverse events. Mean improvement in functional score was 0.60 in the PB arm and 0.73 in placebo arm (p = 0.70). Changes in the secondary endpoints were also similar in the two study arms. CONCLUSIONS: Phenylbutyrate was not effective at the regimen, schedule, and duration used in this study.