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 disease‐specific protocol. MRI sumscores were calculated for atrophy, white‐matter abnormalities (WMA) and Virchow‐Robin 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 non‐neuronopathic. Neuronopathic patients had normal cognitive development until age 3 years. Mental age plateaued between ages 3 and 6, and subsequently declined with loss of skills at a maximum developmental age of 4 years. MRIs of neuronopathic patients showed abnormal atrophy sumscores before CAS dropped below the threshold for intellectual disability (<70). White‐matter abnormalities (WMA) and brain atrophy progressed. The calculated sumscores were inversely correlated with CAS (r = −.90 for atrophy and −.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 Virchow‐Robin 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. Atrophy‐scores were higher in young neuronopathic patients than in non‐neuronopathic patients and atrophy was an important early sign for the development of the neuronopathic phenotype, especially when observed jointly with white‐matter abnormalities

Fatigue mediates the relationship between emotional and cognitive functioning in children post-cancer treatment

Background/objectives: Children treated for cancer are at risk to develop cognitive problems. Insight in underlying associations with emotional functioning and fatigue can be used to optimize interventions. We therefore aim to study emotional functioning, fatigue, and cognitive functioning in children postcancer treatment and investigate whether fatigue mediates the relationship between emotional and cognitive functioning. Design/methods: Emotional functioning, fatigue, and cognitive functioning were assessed in children post-cancer treatment using subscales of the Pediatric Quality of Life Inventory (PedsQL) Generic Core Scales, Multidimensional Fatigue Scale and Cognitive Functioning Scale. A one sample t-test was used to compare outcomes with general population peers and mediation analysis was used to address the effect of fatigue on the relationship between emotional and cognitive functioning. Results: A total of 137 children (mean age: 13.6, SD ± 3.3 years; mean time since end of treatment: 7.1 months, SD ± 5.9) participated. Lower scores on emotional functioning (Cohen's d [D]: 0.4), fatigue (D: 0.8) and cognitive functioning (D: 0.6) were found (p <.001) in children post-cancer treatment than in peers. A medium association was found between emotional and cognitive functioning (standardized regression coefficient [β]: 0.27, p <.001), which was mediated by fatigue (β = 0.16). Conclusions: Outcomes on emotional and cognitive functioning are decreased and fatigue is increased in children postcancer treatment. Fatigue mediates the relationship between emotional and cognitive functioning. Our results show the importance to focus on fatigue amongst stress as a target for intervention to improve cognitive functioning

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 8 months and 10 years old with molecularly confirmed CRTR defect were followed with repeated 1H-MRS and neuropsychological assessments during 4–6 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

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Long-term cognitive impairment after cerebellar tumour surgery in children

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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

Auditory-perceptual speech analysis in children with cerebellar tumors: a long-term follow-up study

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