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To preoperatively assess the neurodevelopment of a predominantly white population of children with moyamoya angiopathy (MMA).Assessments of 40 children with MMA (24 females, 16 males; mean age 6y 11mo, range 20mo-16y) included tests for non-verbal IQ and fine motor skills, and questionnaires on quality of life, behaviour, and executive functions. The Paediatric Stroke Outcome Measure (PSOM) score was evaluated by a paediatric neurologist.Children with MMA had significantly lower non-verbal IQ scores (mean IQ 92.1, SD 19.6, p=0.015) and fine motor skills (z-score -1.84, p=0.004) than population norms. Patients with posterior cerebral artery (PCA) involvement had poorer non-verbal IQ scores than those without (79.6, SD 24.6 vs 95.2, SD 17.2, p=0.042). Higher PSOM scores were related to lower non-verbal IQ scores (Spearman's rank correlation coefficient -0.43, p=0.006), while the presence of stroke, bilaterality, disease versus syndrome, and age at diagnosis had no significant effect on non-verbal IQ. Quality of life, behaviour, and executive functions were in the typically developing range.Children with MMA are more likely to manifest intellectual and fine motor skill impairment before surgical intervention. PCA involvement is an additional risk factor for lower non-verbal IQ.Children with moyamoya angiopathy have intellectual and fine motor skill impairment before surgical intervention. Posterior cerebral artery involvement and higher Paediatric Stroke Outcome Measure scores may predict poorer performance.

AIM To determine predictors of full-scale IQ (FSIQ) in an international pediatric opsoclonus myoclonus syndrome (OMS) cohort. METHOD In this retrospective and prospective cohort study at three academic medical centers (2006-2013), the primary outcome measure, FSIQ, was categorized based on z-score: above average (≥+1), average (+1 to -1), mildly impaired (-1 to -2), and impaired (

In this case report we assess the occurrence of cortical malformations in children with early infantile epilepsy associated with variants of the gene protocadherin 19 (PCDH19). We describe the clinical course, and electrographic, imaging, genetic, and neuropathological features in a cohort of female children with pharmacoresistant epilepsy. All five children (mean age 10y) had an early onset of epilepsy during infancy and a predominance of fever sensitive seizures occurring in clusters. Cognitive impairment was noted in four out of five patients. Radiological evidence of cortical malformations was present in all cases and, in two patients, validated by histology. Sanger sequencing and Multiplex Ligation-dependent Probe Amplification analysis of PCDH19 revealed pathogenic variants in four patients. In one patient, array comparative genomic hybridization showed a microdeletion encompassing PCDH19. We propose molecular testing and analysis of PCDH19 in patients with pharmacoresistant epilepsy, with onset in early infancy, seizures in clusters, and fever sensitivity. Structural lesions are to be searched in patients with PCDH19 pathogenic variants. Further, PCDH19 analysis should be considered in epilepsy surgery evaluation even in the presence of cerebral structural lesions. What this paper adds Focal cortical malformations and monogenic epilepsy syndromes may coexist. Structural lesions are to be searched for in patients with protocadherin 19 (PCDH19) pathogenic variants with refractory focal seizures.

AIM: To examine the interrater agreement of the two gait performance measures - the Functional Mobility Scale (FMS) and Gillette Functional Assessment Questionnaire - walking scale (FAQ) - within health professionals and parents in children with neuromotor disorders, measured in an inpatient setting and at home. METHOD: Seventy-one children with a neuromotor diagnosis (44 males, 27 females; median age 12y 11mo [interquartile range 4y-10mo]) were consecutively recruited when starting an inpatient active gait rehabilitation programme. Physiotherapists and nurses independently scored the level of children's gait performance with the FMS and the FAQ, while parents' scores regarding the children's gait performance at home were obtained by interview or telephone call at the same measurement points. RESULTS: Linear weighted kappa coefficients were substantial to almost perfect for all comparisons. Kappa coefficients ranged from 0.62 to 0.85 for the FMS-5, from 0.79 to 0.92 for the FMS-50, from 0.83 to 0.90 for the FMS-500, and from 0.69 to 0.77 for the FAQ. Friedman tests did not reveal significant differences between the different rater groups. INTERPRETATION: The unexpectedly high level of interrater agreement between parents, physiotherapists, and nurses demonstrates that the FMS and FAQ can reliably assess gait performance in an inpatient setting. Inpatient scores correspond well to the children's performance in their usual environment. WHAT THIS PAPER ADDS: The Functional Mobility Scale and Gillette Functional Assessment Questionnaire - walking scale measure gait performance reliably at home and in an inpatient setting. Physiotherapists, nurses, and parents reliably score gait performance. Inpatient gait performance scores correspond well to children's performance at home. Physiotherapists and nurses in an inpatient setting can reliably estimate gait performance at home.

Aim This study investigated the intra- and interrater reliability of the Trunk Control Measurement Scale (TCMS) German version, with its subscores, in children with neuromotor disorders. Further, the discriminative validity of the TCMS was assessed by comparing the TCMS scores with the Functional Independence Measure for children. Method Bland–Altman analyses and intraclass correlation coefficients were applied to investigate reliability. The discriminative ability of the TCMS was evaluated with receiver operating characteristics. Results Ninety children (mean age 11y 5mo; range 5y–18y 11mo) participated for the reliability, and 50 for the discriminative validity study. The reliability proved to be excellent (intrarater: bias=0.57 points, 95% confidence interval [CI] −3.71 to 4.85; interrater: bias=−0.31 points, 95% CI −5.77 to 5.10). A change in the TCMS total score of six points (10%) can be considered a true change. The TCMS subscores appeared to be clinically relevant because children with less than around 80% of the static balance score, less than 55% of the dynamic reaching score, or less than around 35% of the selective movement control score needed support for daily life activities. Interpretation The TCMS is a reliable and clinically relevant assessment for children aged 5 years and older with different neurological impairments.

Aim: Recovery and trainability of impaired selective voluntary motor control (SVMC) of the lower extremity in children with upper motor neuron lesions has received little attention. To facilitate an evidence-based debate about this topic, this review evaluates the evidence level of the psychometric properties of SVMC measures. Method: MEDLINE, Embase, CINAHL, PsycINFO, Scopus, Cochrane and PEDro databases were systematically searched up to July 2016. Two independent raters scored the methodological quality in accordance to the COnsensus-based Standards for the selection of health Measurement INstruments (COSMIN) checklist. The overall level of evidence was scored according to Cochrane criteria. Results: We identified 3590 studies, of which 17 were included. COSMIN scores ranged from 'poor' to 'excellent' for studies investigating measurement properties of the Selective Motor Control test, modified Trost test, Gillette's Selective Motor Control test, Selective Control Assessment of the Lower Extremity (SCALE), kinematic measures, electromyography, and torque steadiness. Studies assessing the SCALE scored highest on COSMIN items. Evidence levels for SCALE's validity and reliability properties were moderate, while for the other SVMC measures these ranged from unknown to moderate. Responsiveness was not assessed. Interpretation: Further psychometric studies of SVMC measures are needed to provide a scientific contribution to the ongoing debate of SVMC trainability. © 2017 Mac Keith Press.

Aim Longitudinal studies that have examined cognitive performance in children with intellectual disability more than twice over the course of their development are scarce. We assessed population and individual stability of cognitive performance in a clinical sample of children with borderline to mild non-syndromic intellectual disability. Method Thirty-six children (28 males, eight females; age range 3–19y) with borderline to mild intellectual disability (Full-scale IQ [FSIQ] 50–85) of unknown origin were examined in a retrospective clinical case series using linear mixed models including at least three assessments with standardized intelligence tests. Results Average cognitive performance remained remarkably stable over time (high population stability, drop of only 0.38 IQ points per year, standard error=0.39, p=0.325) whereas individual stability was at best moderate (intraclass correlation of 0.58), indicating that about 60% of the residual variation in FSIQ scores can be attributed to between-child variability. Neither sex nor socio-economic status had a statistically significant impact on FSIQ. Interpretation Although intellectual disability during childhood is a relatively stable phenomenon, individual stability of IQ is only moderate, likely to be caused by test-to-test reliability (e.g. level of child's cooperation, motivation, and attention). Therefore, clinical decisions and predictions should not rely on single IQ assessments, but should also consider adaptive functioning and previous developmental history.

The aim of this study was to examine whether vigabatrin treatment had caused visual field defects (VFDs) in children of school age who had received the drug in infancy.In total, 35 children (14 males, 21 females; median age 11y, SD 3.4y, range 8-23y) were examined by static Humphrey perimetry, Goldmann kinetic perimetry, or Octopus perimetry. The aetiologies of infantile spasms identified were tuberous sclerosis (n=10), other symptomatic causes (n=3), or cryptogenic (n=22).Typical vigabatrin-attributed VFDs were found in 11 out of 32 (34%) children: in one out of 11 children (9%) who received vigabatrin for1 year (group 1), in three out of 10 children (30%) who received vigabatrin for 12 to 24 months (group 2), and in seven out of 11 children (63%) who received vigabatrin treatment for longer than 2 years (group 3). VFDs were mild in five and severe in six children. Patients with tuberous sclerosis were at higher risk of VFDs (six out of 10 children). The mean cumulative doses of vigabatrin were 140.5, 758.8, and 2712g in group 1, 2, and 3, respectively.VFDs were found in 34% of the cohort of children in this study. The rate of VFD increased from 9% to 63% as duration of treatment increased. The results of this study showed that the risk-benefit ratio should always be considered when using vigabatrin.

Motor performance and movement quality were quantitatively examined (Zurich Neuromotor Assessment: timed motor performances and associated movements) in 87 prospectively enrolled very-low-birthweight (VLBW