ABSTRACT
BACKGROUND AND PURPOSE: Following the commercial availability of nusinersen, there have been a number of new referrals of adults with spinal muscular atrophy (SMA) not regularly followed in tertiary-care centers or enrolled in any disease registry. METHODS: We compared demographics and disease characteristics, including assessment of motor and respiratory function, in regularly followed patients and newcomers subdivided according to the SMA type. RESULTS: The cohort included 166 adult patients (mean age: 37.09 years): one type I, 65 type II, 99 type III, and one type IV. Of these 166, there were 67 newcomers. There was no significant difference between newcomers and regularly followed patients in relation to age and disease duration. The Hammersmith Functional Motor Scale Expanded and Revised Upper Limb Module scores were higher in the regularly followed patients compared to newcomers in the whole cohort and in both SMA II and II. A difference was also found on ventilatory status (p = 0.013) and Cobb's angle >50° (p = 0.039) between the two subgroups. No difference was found in scoliosis surgery prevalence (p > 0.05). CONCLUSIONS: Our results showed differences between the two subgroups, even if less marked in the type III patients. In the type II patients, there was a higher proportion of newcomers who were in the severe end of the spectrum. Of the newcomers, only approximately a third initiated treatment, as opposed to the 51% in the regularly followed patients. The identification of patients who were not part of the registries will help to redefine the overall prevalence of SMA and the occurrence of different phenotypes.
Subject(s)
Muscular Atrophy, Spinal , Spinal Muscular Atrophies of Childhood , Adult , Cohort Studies , Humans , Muscular Atrophy, Spinal/drug therapy , Muscular Atrophy, Spinal/epidemiology , Oligonucleotides , Spinal Muscular Atrophies of Childhood/drug therapy , Spinal Muscular Atrophies of Childhood/epidemiologyABSTRACT
La evaluación desde un modelo interactivo, como esel caso de la valoración dinámica, permite observare interpretar el proceso de aprendizaje de los niños ala vez que aporta criterios para definir los objetivos yestrategias a trabajar durante la intervención. Esteprocedimiento es realmente valioso en el marco de laintervención en narración con alumnos diagnosticadosde trastorno específico de lenguaje debido a lacomplejidad lingüística y cognitiva del aprendizajenarrativo. La valoración dinámica se convierte en estecaso en un instrumento útil ya que permite a loslogopedas conocer cómo el niño aprende, cómo usala nueva información y la transfiere o generaliza ennuevas habilidades. En este trabajo se quiere destacarla utilidad de este modelo
The evaluation from an interactive model, as it isthat of the Dynamic Assessment, allows both toobserve and to interpret the learning processes usedby a child and to give useful information in order todefine the goals and strategies to teach during languageintervention. This interactive assessment isreally powerful during narrative work in childrenwith Specific Language Impairment because of thecognitive and linguistic complexity of the narrativelearning. The Dynamic Assessment becomesthen an useful instrument as it allows speech therapiststo realize how that child learns, how he usesthe new information, and how he transfers or generalizesit into new abilities, This paper wants tounderline the usefulness of this model
