Botulinum toxin-a in children with congenital spastic hemiplegia does not improve upper extremity motor-related function over rehabilitation alone: a randomized controlled trial.

Contains fulltext : 80828.pdf (publisher's version ) (Closed access)BACKGROUND: Rehabilitation of the upper extremity in children with hemiplegic cerebral palsy has not been compared to the same intensity of therapy combined with injected botulinum toxin (BTX). OBJECTIVE: To measure the short-term (2 weeks) and long-term (6 and 9 months) effects of a standardized functional training program versus without the addition of chemodenervation of forearm and hand muscles. METHODS: Twenty children with spastic hemiplegia, aged 4 to 16 years, were matched for baseline characteristics and then randomized to standardized functional physical and occupational therapies for 6 months (PT/OT group) or to the same therapies plus multimuscle BTX-A (BTX+ group). MAIN OUTCOME MEASURES: were isometric generated force, overshoot and undershoot (force production error), active and passive range of motion by goniometry (ROM), stretch restricted angle (SRA) of joints, Ashworth scores at the elbow and wrist, and the Melbourne assessment of unilateral upper limb function. All measures were performed at baseline, 2 weeks after BTX-A, 6 months (end of therapy), and then 3 months after termination of the therapy. RESULTS: Clinical measures (muscle tone, active ROM of wrist and elbow) showed improvement in both groups. However, no significant differences emerged between groups on functional measures. Generated force decreased directly after the BTX-A injection but increased during the therapy period. The PT/OT group, however, showed a significantly higher increase in force and accuracy with therapy compared with the BTX+ therapy group. CONCLUSIONS: Functional rehabilitation therapies for the upper extremity increase manual isometric flexor force at the wrist and ROM, but BTX injections cause weakness and do not lead to better outcomes than therapy alone

Kinematic aiming task: measuring functional changes in hand and arm movements after botulinum toxin-A injections in children with spastic hemiplegia.

Contains fulltext : 51855.pdf (publisher's version ) (Closed access)OBJECTIVE: To describe different aspects of a kinematic aiming task (KAT) as a quantitative way to assess changes in arm movements within 2 wks after botulinum toxin-A (BTX-A) injections in children with spastic hemiplegia. DESIGN: Intervention study randomized clinical trial; follow-up within 4 wks after baseline measurement. RESULTS: The KAT gave a high intraclass correlation on movement time, spread of end points (END), and index of performance effective (IP-E). After BTX-A, a significant increase of END and IP-E was shown if precision demand in the KAT was high, whereas the inverse occurred when speed was more important. These functional changes coincided with a significant decrease of the maximum voluntary contraction of the flexor muscles of the forearm. Muscle tone measured with the Ashworth scale did show a nonsignificant decrease of muscle tone, as did the stretch restricted angle and the active and passive ranges of motion of the elbow and wrist. CONCLUSIONS: Muscle force decreased immediately after BTX-A, showing the direct effect of BTX-A. The KAT is an adequate, reproducible way to quantify functional changes after BTX-A in the upper limb. BTX-A has an inverse effect in the precision task when accuracy is important, and it has a positive effect when speed prevails

Fetal asphyctic preconditioning alters the transcriptional response to perinatal asphyxia

BACKGROUND: Genomic reprogramming is thought to be, at least in part, responsible for the protective effect of brain preconditioning. Unraveling mechanisms of this endogenous neuroprotection, activated by preconditioning, is an important step towards new clinical strategies for treating asphyctic neonates.Therefore, we investigated whole-genome transcriptional changes in the brain of rats which underwent perinatal asphyxia (PA), and rats where PA was preceded by fetal asphyctic preconditioning (FAPA). Offspring were sacrificed 6 h and 96 h after birth, and whole-genome transcription was investigated using the Affymetrix Gene1.0ST chip. Microarray data were analyzed with the Bioconductor Limma package. In addition to univariate analysis, we performed Gene Set Enrichment Analysis (GSEA) in order to derive results with maximum biological relevance. RESULTS: We observed minimal, 25% or less, overlap of differentially regulated transcripts across different experimental groups which leads us to conclude that the transcriptional phenotype of these groups is largely unique. In both the PA and FAPA group we observe an upregulation of transcripts involved in cellular stress. Contrastingly, transcripts with a function in the cell nucleus were mostly downregulated in PA animals, while we see considerable upregulation in the FAPA group. Furthermore, we observed that histone deacetylases (HDACs) are exclusively regulated in FAPA animals. CONCLUSIONS: This study is the first to investigate whole-genome transcription in the neonatal brain after PA alone, and after perinatal asphyxia preceded by preconditioning (FAPA). We describe several genes/pathways, such as ubiquitination and proteolysis, which were not previously linked to preconditioning-induced neuroprotection. Furthermore, we observed that the majority of upregulated genes in preconditioned animals have a function in the cell nucleus, including several epigenetic players such as HDACs, which suggests that epigenetic mechanisms are likely to play a role in preconditioning-induced neuroprotection

Diagnosis and treatment of obsessive compulsive behavior in a boy with Duchenne muscular dystrophy and autism spectrum disorder: A case report

Neurological Motor Disorder

Zuigelingen met een scheef hoofd [Babies with cranial deformity]

Plagiocephaly was diagnosed in a baby aged 4 months and brachycephaly in a baby aged 5 months. Positional or deformational plagio- or brachycephaly is characterized by changes in shape and symmetry of the cranial vault. Treatment options are conservative and may include physiotherapy and helmet therapy. During the last two decades the incidence of positional plagiocephaly has increased in the Netherlands. This increase is due to the recommendation that babies be laid on their backs in order to reduce the risk of sudden infant death syndrome. We suggest the following: in cases of positional preference of the infant, referral to a physiotherapist is indicated. In cases of unacceptable deformity of the cranium at the age 5 months, moulding helmet therapy is a possible treatment option

Folinic acid-responsive seizures initially responsive to pyridoxine.

Contains fulltext : 50278.pdf (publisher's version ) (Closed access)This report presents a male who developed clonic seizures on the day he was born. The next day, the diagnosis of pyridoxine-dependent seizures was made. However, contradictory to this diagnosis, seizures reappeared despite treatment with pyridoxine. Seizures ceased after folinic acid was initiated. The clinical and biochemical characteristics of folinic acid-responsive seizures are reviewed. Treatment with folinic acid should be considered in neonatal seizures of unknown origin that do not respond to pyridoxine, or manifest a transient response to pyridoxine