30 research outputs found
Can serial cerebral MRIs predict the neuronopathic phenotype of MPS II?
OBJECTIVE: To advance the prediction of the neurocognitive development in MPS II patients by jointly analyzing MRI and neurocognitive data in mucopolysaccharidosis (MPS) II patients. METHODS: Cognitive ability scores (CAS) were obtained by neuropsychological testing. Cerebral MRIs were quantified using a diseaseâspecific protocol. MRI sumscores were calculated for atrophy, whiteâmatter abnormalities (WMA) and VirchowâRobin spaces (VRS). To distinguish between atrophy and hydrocephalus the Evans' index and the callosal angle (CA) were measured. A random effects repeated measurement model was used to correlate CAS with the three MRI sumscores. RESULTS: MRI (n = 47) and CAS scores (n = 78) of 19 male patients were analyzed. Ten patients were classified as neuronopathic and nine as nonâneuronopathic. Neuronopathic patients had normal cognitive development until age 3âyears. Mental age plateaued between ages 3 and 6, and subsequently declined with loss of skills at a maximum developmental age of 4âyears. MRIs of neuronopathic patients showed abnormal atrophy sumscores before CAS dropped below the threshold for intellectual disability (<70). Whiteâmatter abnormalities (WMA) and brain atrophy progressed. The calculated sumscores were inversely correlated with CAS (r = â.90 for atrophy and â.69 for WMA). This was not biased by the influence of hydrocephalus as shown by measurement of the Evans' and callosal angle. Changes over time in the VirchowâRobin spaces (VRS) on MRI were minimal. CONCLUSION: In our cohort, brain atrophy showed a stronger correlation to a decline in CAS when compared to WMA. Atrophyâscores were higher in young neuronopathic patients than in nonâneuronopathic patients and atrophy was an important early sign for the development of the neuronopathic phenotype, especially when observed jointly with whiteâmatter abnormalities
Motor Learning in Children with Neurofibromatosis Type I
The aim of this study was to quantify the frequently observed problems in motor control in Neurofibromatosis type 1 (NF1) using three tasks on motor performance and motor learning. A group of 70 children with NF1 was compared to age-matched controls. As expected, NF1 children showed substantial problems in visuo-motor integration (Beery VMI). Prism-induced hand movement adaptation seemed to be mildly affected. However, no significant impairments in the accuracy of simple eye or hand movements were observed. Also, saccadic eye movement adaptation, a cerebellum dependent task, appeared normal. These results suggest that the motor problems of children with NF1 in daily life are unlikely to originate solely from impairments in motor learning. Our findings, therefore, do not support a general dysfunction of the cerebellum in children with NF1
Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect
The creatine transporter (CRTR) defect is a recently discovered cause of X-linked intellectual disability for which treatment options have been explored. Creatine monotherapy has not proved effective, and the effect of treatment with L-arginine is still controversial. Nine boys between 8Â months and 10Â years old with molecularly confirmed CRTR defect were followed with repeated 1H-MRS and neuropsychological assessments during 4â6Â years of combination treatment with creatine monohydrate, L-arginine, and glycine. Treatment did not lead to a significant increase in cerebral creatine content as observed with H1-MRS. After an initial improvement in locomotor and personal-social IQ subscales, no lasting clinical improvement was recorded. Additionally, we noticed an age-related decline in IQ subscales in boys affected with the CRTR defect
Long-term follow-up of memory functions after cerebellar tumour surgery in children
info:eu-repo/semantics/nonPublishe
Transient cerebellar eye closure and mutism after cerebellar tumor surgery: long-term clinical follow-up of neurologic and behavioral disturbances in a 14-year-old girl.
Transient cerebellar eye closure (TCES) is a complication of cerebellar tumor surgery in children and is almost exclusively observed in the context of the syndrome of mutism and subsequent dysarthria. As knowledge about the course of transient cerebellar eye closure is absent, we describe in detail the clinical picture in a 14-year-old girl. The process of improvement of TCES is characterized by four distinct phases, can last more than 1 month and may be associated with severe persistent cerebellar dysfunction.Case ReportsJournal Articleinfo:eu-repo/semantics/publishe
Long-term cognitive impairment after cerebellar tumour surgery in children
info:eu-repo/semantics/publishe
Auditory-perceptual speech analysis in children with cerebellar tumors: a long-term follow-up study
info:eu-repo/semantics/publishe
Long-term sequelae in children after cerebellar astrocytoma surgery.
To study long-term effects on neurologic, neuropsychological, and behavioral functioning in children treated for cerebellar pilocytic astrocytoma (CPA) without additional radio- and chemotherapy.Journal Articleinfo:eu-repo/semantics/publishe
Long-term sequelae in children with cerebellar astrocytoma in neurologic, neuropsychological, and behavioral perspective
info:eu-repo/semantics/publishe