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This article, published in the journal Neuropediatrics, discusses the use of videos taken by parents as a diagnostic tool for the diagnosis of KCNQ2-related self-limiting familial neonatal epilepsy (SLFNE). The study analyzed videos taken by parents of three affected families, which showed neonates experiencing seizures with focal onset and changing manifestation throughout the seizure. The family history of each affected neonate was conclusive, as one parent in each family had also experienced seizures in the same timeframe after birth. Genetic testing confirmed a mutation in the KCNQ2 gene in the affected children and at least one parent in all three families. The authors suggest that analyzing these videos, along with the positive family history, can aid in the diagnosis of SLFNE and promote early genetic testing and treatment initiation. [Extracted from the article]

This article, published in the journal Neuropediatrics, examines the short-term effects of selective dorsal rhizotomy (SDR) on gait in children with bilateral spastic cerebral palsy (BSCP). The study included 36 children aged 5.8 ± 2.5 years who underwent SDR. The researchers used 3D gait analysis to assess the effects of SDR on tempospatial parameters, gait profile score (GPS), and joint angles. The results showed that SDR led to improvements in gait, particularly in children with higher GMFCS levels and more kinematic alterations. However, the study suggests that longer follow-up may yield even better results, and a short interval to prior myofasciotomy may delay recovery. [Extracted from the article]

Abstract: Background: Robot-enhanced therapies are increasingly being used to improve gross motor performance in patients with cerebral palsy. Aim: To evaluate gross motor function, activity and participation in patients with bilateral spastic cerebral palsy (BS-CP) after Robot-enhanced repetitive treadmill therapy (ROBERT) in a prospective, controlled cohort study. Methods: Participants trained for 30–60 min in each of 12 sessions within a three-week-period. Changes in Gross Motor Function Measure (GMFM 66) scores, standardized walking distance, self-selected and maximum walking speed (ICF domain “Activity”), and Canadian Occupational Performance Measure (COPM; “Participation”) were measured. Outcome measures were assessed three weeks in advance (V1), the day before (V2) as well as the day after, and 8 weeks after ROBERT (V3 + V4). Results: 18 patients with BS-CP participated; age 11.5 (mean, range: 5.0–21.8) years, body weight 36.4 (15.0–72.0) kg. GMFCS levels I–IV were: n = 4; 5; 8; 1. There was no significant difference comparing V1 and V2. GMFM 66 (total +2.5 points, Dimension D +3.8 and E +3.2) and COPM (Performance +2.1 points, Satisfaction +1.8 points) showed statistically significant improvements for V3 or V4 compared to V1 or V2 representing clinically meaningful effect sizes. Age, GMFCS level, and repeated ROBERT blocks correlated negatively with GMFM improvement, but not with COPM improvement. Interpretation: Following ROBERT, this prospective controlled cohort study showed significant and clinically meaningful improvements of function in ICF domains of “activity” and “participation” in patients with BS-CP. Further assessment in a larger cohort is necessary to allow more specific definition of factors that influence responsiveness to ROBERT program. [Copyright &y& Elsevier]

Introduction A total of 83% of children report headache during a 6-month period. The estimated 1-year prevalence of chronic daily headache (CDH) in children is at least 1 to 2%. Muscle pain is associated with headache severity and chronicity. Muscle pain can be associated with active muscular trigger points, a functional concept still remaining a controversy. An integrated approach including bio-behavioral management is accepted as standard treatment but does not provide sufficient pain relief in all patients. Objective We report the individual clinical course of five adolescents with treatment-refractory CDH associated with focal muscle pain. We describe a concept of short-term integrative intervention including botulinum toxin (StiBo) in a personalized "follow the referred pain pattern" injection regimen with the focus on long-term follow-up. Results StiBo showed short-term efficacy on headache frequency and severity. In the long-term follow-up, CDH was not existent in any of the patients. Conclusion The treatment may have enabled the patients to draw attention away from a repeated circle of muscle-triggered pain and withdrawal of daily activities toward self-driven activities, thereby potentially preventing the development of further chronification. To prove this hypothesis, a prospective, placebo-controlled study in young adolescents with CDH should be initiated including objective outcome parameters on muscular level. [ABSTRACT FROM AUTHOR]

We investigated the effect of BoNT/A injection on hip lateralisation in children with bilateral spastic cerebral palsy and bilateral adductor spasticity. Pelvic radiographs using Reimers' migration index (MI) were evaluated from 27 children (n=9 females, n=18 males; mean age 5.2±1.96 years; range: 2-10 years; initial MI <50%) with bilateral spastic cerebral palsy over a time period of 2 years. All received injections of BoNT/A (Dysport®) every 12 weeks with a dose of 30 Units per kilogram body weight into adductor and medial hamstring muscles on both sides. The MI was calculated before treatment and after 1 and 2 years. The mean MI increased from 25.5% (range: 0-48) to 26.7% (+1.2%, range: 0-79) on the right side and from 28.0% (range: 0-40) to 30.6% (+2.6%, range: 3-84) on the left side over 2 years, respectively. Hips of one patient dislocated bilaterally. The mean MI remained stable over 2 years. Although a specific BoNT/A effect cannot be proven because of the open design of this study, we provide strong evidence that the MI can be kept stable for a time period of 2 years under non-surgical management including therapy with BoNT/A even in CP patients with a high risk for hip dislocation. [ABSTRACT FROM AUTHOR]

We report the case of an 8-year-old girl who developed progressive generalized dystonia, rendering her unable to walk and sit within months despite medical therapy with dopamine and anti-cholinergic agents. She was found to have a 9q34.1 GAG-deletion, which is known to cause DYTI-dystonia. DYT-1 dystonia is an autosomal dominant condition with incomplete penetrance that usually starts in childhood. It is known to be refractory to pharmacotherapy. Reports on deep brain stimulation in this condition reveal marked benefits of the treatment in the pediatric and adult populations. The patient underwent bilateral stimulation of the internal globus pallidus 18 months after symptom onset. Postoperatively, her clinical status improved significantly as measured by the Burke-Fahn- Marsden dystonia rating scale and the resolution of a unilateral hip dislocation. Normal participation was regained. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study was to assess neuromodulative effects of CIMT in congenital hemiparesis. Patients and Methods: Ten patients (age range: 10-30 years) with congenital hemiparesis due to unilateral cortico-subcortical infarctions in the middle cerebral artery territory, and with preserved cortico-spinal projections from the affected hemisphere to the paretic hand, were included. After a twelve-day period of constraint-induced movement therapy (CIMT), all showed a significant improvement of paretic hand function. Immediately before and after therapy, functional MRI during active and passive hand movements was performed to monitor cortical activation. Results: Four patients showed consistent increases in cortical activation during movements of the paretic hand in the primary sensorimotor cortex of the affected hemisphere. Of the remaining six patients, three showed similar changes, but these results were potentially contaminated by an improved task performance after therapy. No significant alteration in activation was observed in two patients, and one showed movement artifacts. Conclusions: Even a short period of CIMT can induce changes of cortical activation in congenital hemiparesis. In our sample, increases in fMRI activation were consistently observed in the primary sensorimotor cortex of the affected hemisphere. Thus, the potential for neuromodulation is preserved in the affected hemisphere after early brain lesions. [ABSTRACT FROM AUTHOR]

Adductor spasticity in children with cerebral palsy (CP) impairs motor function and development. In a placebo-controlled, double-blind, randomized multicentre study, we evaluated the effects of botulinum toxin A(BTX-A) in 61 children (37 males, 24 females; mean age 6 years 1 month [SD 3y 1mo]) with CP (leg-dominated tetraparesis, n=39; tetraparesis, n=22; GMFCS level I, n=3; II, n=6; III, n=17; IV, n=29; V, n=6). Four weeks after treatment, a significant superiority of BTX-A was observed in the primary outcome measure (knee-knee distance 'fast catch', p=0.002), the Ashworth scale (p=0.001), and the Goal Attainment Scale (p=0.037). [ABSTRACT FROM AUTHOR]

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Keywords: Goodpasture syndrome; immunoadsorption; acute glomerulonephritis [ABSTRACT FROM PUBLISHER]

Botulinum toxin (BTX) offers a new treatment option to reduce drooling in adults and children. Antibody formation against BTX is known to be one reason for clinical secondary non-response to this treatment. This is a case report on the development of secondary non-response to BTX type B (BTX-B) in a 15-year-old male, with bilateral dyskinetic cerebral palsy (Gross Motor Function Classification System Level IV) with additional learning disability* and microcephaly, treated for the indication of drooling. After three successful treatment sessions, the fourth and fifth injections showed no clinical response. This was associated with the presence of antibodies against BTX-B as determined using the mouse diaphragm assay. Thus, formation of neutralizing antibodies against BTX-B appears to be an important issue, not only in patients treated for cervical dystonia but also in children treated for drooling. Subsequent injections with an adequate dose of BTX type A (BTX-A) did not show any clinical response either, although no antibodies to BTX-A were detected. Besides the unanswered questions of dosing and distribution, a second possible explanation could be that BTX-B gave rise to non-neutralizing antibodies that cross-react with BTX-A. The resulting immune complexes could be taken up by phagocytes and, thereby, impede clinical response. [ABSTRACT FROM AUTHOR]