Computerized cognitive training for children with neurofibromatosis type 1: A pilot resting-state fMRI study.

In this pilot study, we examined training effects of a computerized working memory program on resting state functional magnetic resonance imaging (fMRI) measures in children with neurofibromatosis type 1 (NF1). We contrasted pre- with post-training resting state fMRI and cognitive measures from 16 participants (nine males; 11.1 ± 2.3 years) with NF1 and documented working memory difficulties. Using non-parametric permutation test inference, we found significant regionally specific differences (family-wise error corrected) in two of four voxel-wise resting state measures: fractional amplitude of low frequency fluctuations (indexing peak-to-trough intensity of spontaneous oscillations) and regional homogeneity (indexing local intrinsic synchrony). Some cognitive task improvement was observed as well. These preliminary findings suggest that regionally specific changes in resting state fMRI indices may be associated with treatment-related cognitive amelioration in NF1. Nevertheless, current results must be interpreted with caution pending independent controlled replication.

Plastia del muñón en paciente con neurofibromatosis tipo 1 / Plasma of the wrist in patient with neurofibromatosis type 1

La neurofibromatosis tipo 1 o enfermedad de Von Recklinghausen (NF1) es uno de los desórdenes genéticos heredables más comunes en el hombre. Se presenta el caso de una paciente femenina de 59 años, afecta de neurofibromatosis tipo 1 con antecedentes de amputación supracondílea del miembro inferior izquierdo a la edad de 19 años por elefantiasis, que provocó deformidad total de la extremidad y que acude por presentar deformidad del muñón que le impide ponerse la prótesis para caminar. Se realizaron complementarios y se procedió a realizar la plastia del muñón con evolución favorable. Se presenta este caso por el interés que dimana de su singularidad en la especialidad de Angiología del Hospital Militar Central "Dr. Carlos J. Finlay", donde fue necesaria la intervención quirúrgica con resultados favorables en la rehabilitación de la paciente(AU)

Neurofibromatosis type 1 or Von Recklinghausen disease (NF1) is one of the most common hereditary genetic disorders in human. We present the case of a 59 year female patient, affected by neurofibromatosis type 1. She has a history of supracondylar amputation of the lower left limb at age 19 due to elephantiasis, which caused her total limb deformity. She comes for presenting deformity of her stump that prevents her from putting on the prosthesis to walk. Complementary procedures were performed and the stent plasty was performed with favorable evolution. This case is presented by the interest that arises from its singularity in the specialty of Angiology at "Dr. Carlos J. Finlay" Central Military Hospital, where the surgical intervention was necessary resulting favorably in the patient's rehabilitation(AU)

Postural control in children with and without neurofibromatosis type 1.

Previous research has evaluated the motor proficiency of children with neurofibromatosis type 1 (NF1) and found delays on the balance subtest. However the balance subtest was found to have low sensitivity for identifying balance impairments. This study examines the differences in postural control between children with NF1 and peers with typical development using a force plate. A single limb stance test on a force plate was completed for all participants. The force plate variables, center of pressure maximum distance in the anterior/posterior direction (COPmax A/P) and center of pressure velocity (COPvel A/P) were compared between groups. The NF1 group's performance was significantly poorer than the control group in both COPmax A/P (p=.01) and COPvel A/P (p=.01). When separated into specific age ranges, only the children in the NF1 group between 5 and 12years of age demonstrated statistically significant differences in the COP variables. The COP variables for the 13- to 18-year-old group were not significantly different. These results indicate that young children with NF1 have poor postural control. However, postural control appears to improve with maturation.

Effects of a plyometric training program for 3 children with neurofibromatosis type 1.

BACKGROUND AND PURPOSE: To evaluate the feasibility and safety of plyometric training and to determine the effects on motor proficiency. CASE DESCRIPTION: Three children with neurofibromatosis type 1, aged 5, 7, and 10 years, selected for representative ages, sexes, abilities, and outcomes participated in a 10-week plyometric training program. Outcome measures included throwing and jumping distance, performance on a self-selected goal, the Bruininks-Oseretsky Test of Motor Proficiency, Second Edition, and the Children's Assessment of Participation and Enjoyment. OUTCOMES: All participants safely completed the program. Improvements were seen in distance and consistency of throwing and jumping, performance on the self-selected goal, and bilateral coordination composite scores. Increased diversity, but not intensity of physical activity, was observed. DISCUSSION: A safe plyometric training program was implemented, resulting in gains in motor performance. It may be important to address personal and environmental barriers to physical activity participation to improve intensity of physical activity.

Speech disorders in neurofibromatosis type 1: a sample survey.

BACKGROUND: Neurofibromatosis type 1 (NF1) is an autosomal-dominant neurocutaneous disorder with an estimated prevalence of two to three cases per 10,000 population. While the physical characteristics have been well documented, speech disorders have not been fully characterized in NF1 patients. AIMS: This study serves as a pilot to identify key issues in the speech of NF1 patients. In particular, the aim is to explore further the occurrence and nature of problems associated with speech as perceived by the patients themselves. METHODS & PROCEDURES: A questionnaire was sent to 149 patients with NF1 registered at the Department of Genetics, Ghent University Hospital. The questionnaire inquired about articulation, hearing, breathing, voice, resonance and fluency. Sixty individuals ranging in age from 4.5 to 61.3 years returned completed questionnaires and these served as the database for the study. The results of this sample survey were compared with data of the normal population. OUTCOMES & RESULTS: About two-thirds of participants experienced at least one speech or speech-related problem of any type. Compared with the normal population, the NF1 group indicated more articulation difficulties, hearing impairment, abnormalities in loudness, and stuttering. CONCLUSION: The results indicate that speech difficulties are an area of interest in the NF1 population. Further research to elucidate these findings is needed.

Neurofibromatosis: a familial and family disorder.

Neurofibromatosis (NF) is a devastating illness which is extremely variable in its symptoms, intensity, and progression. Nursing literature has suffered markedly from lack of information on this important health care problem. This article is the result of an interface of the senior author's own personal experience with neurofibromatosis and an extensive review of international and multidisciplinary publications on the subject. The nurse can exert a profound impact on the care of the patient/family experiencing the crisis of neurofibromatosis.