RESUMEN
PURPOSE: To quantitatively describe passive lower extremity range of motion in participants with spinal muscular atrophy (SMA) types 2 and 3, and to establish preliminary thresholds to identify individuals at risk for performing poorly on disease-specific motor function outcome measures. METHODS: Eighty participants with SMA types 2 and 3, enrolled in an international multicenter natural history study, were evaluated with lower extremity range of motion testing and the Hammersmith Functional Motor Scale-Expanded. RESULTS: A hip extension joint angle of -7.5° or less for SMA type 2 and 0° or less for SMA type 3 identified diminished motor ability with good sensitivity. For knee extension, a joint angle of -9.0° or less for SMA type 2 or 0° or less for SMA type 3 was similarly sensitive. CONCLUSIONS: Minimal hip and knee joint contractures were associated with diminished motor ability. Clinical trial designs should consider the effect of contractures on motor function.
Asunto(s)
Contractura/fisiopatología , Articulación de la Cadera/fisiopatología , Articulación de la Rodilla/fisiopatología , Extremidad Inferior/fisiopatología , Trastornos Motores/fisiopatología , Atrofia Muscular Espinal/fisiopatología , Rango del Movimiento Articular/fisiología , Adulto , Femenino , Humanos , MasculinoRESUMEN
OBJECTIVE: To profile the initial clinical events of glucose transporter 1 deficiency syndrome (Glut1 DS) in order to facilitate the earliest possible diagnosis. STUDY DESIGN: We retrospectively reviewed 133 patients with Glut1 DS from a single institution. Family interviews and medical record reviews identified the first clinical event(s) reported by the caregivers. RESULTS: Average age of the first event was 8.15 ± 11.9 months (range: 0.01-81). Ninety-one patients experienced the first symptom before age 6 months (68%). Thirty-three additional patients (25%) presented before age 2 years. Only 9 patients (7%), reported the first event after age 2 years. Seizures were the most common first event (n = 81, 61%), followed by eye movement abnormalities (n = 51, 38%) and changes in muscle strength and tone (n = 30, 22%). Eye movement abnormalities, lower cerebrospinal fluid glucose values, and lower Columbia Neurological Scores correlated with earlier onset of the first event (r: -0.17, 0.22, and 0.25 respectively, P < .05). There was no correlation with age of first event and red blood cell glucose uptake or mutation type. CONCLUSIONS: Glut1 DS is a treatable cause of infantile onset encephalopathy. Health care providers should recognize the wide spectrum of paroxysmal events that herald the clinical onset of Glut1 DS in early infancy to facilitate prompt diagnosis, immediate treatment, and improved long-term outcome.
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Errores Innatos del Metabolismo de los Carbohidratos/diagnóstico , Transportador de Glucosa de Tipo 1/deficiencia , Edad de Inicio , Anticonvulsivantes/uso terapéutico , Encéfalo/crecimiento & desarrollo , Errores Innatos del Metabolismo de los Carbohidratos/terapia , Cuidadores , Niño , Preescolar , Dieta Cetogénica , Intervención Médica Temprana , Epilepsia/diagnóstico , Movimientos Oculares , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Registros Médicos , Pediatría/métodos , Estudios Retrospectivos , Convulsiones/diagnóstico , Convulsiones/tratamiento farmacológicoRESUMEN
OBJECTIVES: To document the attainment of developmental milestones in children with Duchenne's muscular dystrophy (DMD) and to determine whether early delays are associated with later performance on measures of cognition. STUDY DESIGN: Retrospective parental report was utilized to document the acquisition of 10 common developmental milestones in children with DMD (n = 130) and their unaffected siblings (n = 59). Children completed tests of cognitive functioning. RESULTS: Parents rated children with DMD as delayed on achieving both language and motor milestones more frequently than their unaffected siblings. Furthermore, those children with DMD who were rated as late talkers or late walkers performed more poorly on tests of cognitive function than their on-time peers. CONCLUSIONS: In addition to the commonly reported delays in motor milestones, the current study documents delays in the acquisition of language milestones as well. These early delays are associated with significant impairments in later cognitive functioning.
Asunto(s)
Trastornos del Desarrollo del Lenguaje/etiología , Distrofia Muscular de Duchenne/complicaciones , Adolescente , Niño , Preescolar , Humanos , Lactante , Masculino , Distrofia Muscular de Duchenne/fisiopatología , Estudios RetrospectivosRESUMEN
OBJECTIVES: To further characterize mtDNA defects associated with autistic features, especially the A3243G mtDNA mutation and mtDNA depletion.Study design Five patients with autistic spectrum disorders and family histories of mitochondrial DNA diseases were studied. We performed mtDNA analysis in all patients and magnetic resonance spectroscopy in three. RESULTS: Three patients manifested isolated autistic spectrum features and two had additional neurologic symptoms. Two patients harbored the A3243G mutation. In two others, the A3243G mutation was not found in accessible tissues but was present in tissues from their mothers. The fifth patient had 72% mtDNA depletion in skeletal muscle. CONCLUSIONS: Autistic spectrum disorders with or without additional neurologic features can be early presentations of the A3243G mtDNA mutation and can be a prominent clinical manifestation of mtDNA depletion. Mitochondrial dysfunction should be considered in patients who have autistic features and associated neurologic findings or who have evidence of maternal inheritance.