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Aim: To report the differential diagnosis in children with progressive intellectual and neurological deterioration (PIND) in the UK. Method: Since 1997 the PIND Study has searched for variant Creutzfeldt‐Jakob disease (vCJD) in children, using the British Paediatric Surveillance Unit to perform prospective surveillance of those younger than 16 years with PIND. Results: From May 1997 to October 2019, 2255 children meeting PIND criteria had been notified, of whom 2008 (1085 males, 923 females) had underlying diagnoses. There were over 220 different diseases, including six cases of vCJD. The numbers presenting in four age groups were: <1 year, 805 (40%); 1 to 4 years inclusive, 825 (41%); 5 to 9 years inclusive, 264 (13%); and 10 to 15 years inclusive, 114 (6%). The two largest ethnic groups were White and Pakistani (58.2% and 17% of diagnosed cases). The most common diseases in these two ethnic groups are shown for the four age groups. The distribution of diseases varied with age but was quite similar in White and Pakistani children. Interpretation: This paper provides a unique guide to the complex differential diagnosis of childhood PIND, showing considerable differences between four age groups, but similarities between ethnic groups. The PIND Study still provides the only systematic surveillance for vCJD in children in the UK. What this paper adds: The prevalence of diseases causing childhood progressive intellectual and neurological deterioration in the UK is low (approximately 0.1/1000 live births).There were more than 220 different disorders, mainly genetically determined.The majority of disorders presented early in childhood: 81% before the age of 5 years.There were similarities in the disease spectrum in White and Pakistani children. What this paper adds: The prevalence of diseases causing childhood progressive intellectual and neurological deterioration in the UK is low (approximately 0.1/1000 live births).There were more than 220 different disorders, mainly genetically determined.The majority of disorders presented early in childhood: 81% before the age of 5 years.There were similarities in the disease spectrum in White and Pakistani children. Video Podcast: https://youtu.be/QbUG-ZVJLHc This article is commented on by van Karnebeek on page 243 of this issue. [ABSTRACT FROM AUTHOR]

Aim: To compare anterior and posterior standing balance reactions, as measured by single-stepping thresholds, in children with and without spastic cerebral palsy (CP).Method: Seventeen ambulatory children with spastic CP (eight males, nine females) and 28 typically developing children (13 males, 15 females; age range 5-12y, mean [SD] 9y 2mo [2y 3mo]), were included in this cross-sectional, observational study. Balance reaction skill was quantified as anterior and posterior single-stepping thresholds, or the treadmill-induced perturbations that consistently elicited a step in that direction. In order to understand the underlying mechanisms of between-group differences in stepping thresholds, dynamic stability was quantified using the minimum margin of stability. Ankle muscle activation latency, magnitude, and co-contraction were assessed with surface electromyography.Results: We observed an age and group interaction for anterior thresholds (p=0.001, partial η2 =0.24). At older (≈11y; p<0.001, partial η2 =0.48), but not younger (≈7y; p=0.33, partial η2 =0.02) ages, typically developing children had larger anterior thresholds than those with CP. In response to near-threshold anterior perturbations, older typically developing children recovered from more instability than their peers with CP (p=0.004, partial η2 =0.18). Older children had no between-group differences in ankle muscle activity. No between-group differences were observed in posterior thresholds.Interpretation: The effects of CP on balance reactions are age- and direction-specific. Older typically developing children are more able or willing to withhold a step when unstable.What This Paper Adds: Children with spastic cerebral palsy have age- and direction-specific balance-reaction impairments. Lower anterior stepping thresholds were observed in older, but not younger children. Older typically developing children withheld a forward step at higher levels of instability. No between-group differences were seen in posterior stepping thresholds. [ABSTRACT FROM AUTHOR]

Copyright of Developmental Medicine & Child Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Developmental Medicine & Child Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Developmental Medicine & Child Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Developmental Medicine & Child Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Developmental Medicine & Child Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Aim Sensory function is assumed to recover almost completely in obstetric brachial plexus lesion (OBPL), and is reported to recover much better than motor function. However, there is no obvious physiological reason why this should be so. Any persistent problems with sensory innervation might contribute to disability, therefore we aimed to assess sensory dysfunction in adults resulting from OBPL. Method Adults with conservatively treated OBPL ( n=17; 12 females, five males; median age 38y; lesion levels: C5-C6, n=7; C5-C7, n=7; C5-C8, n=2; C5-Th1, n=1) and 19 healthy comparison persons (10 females, nine males; median age 23y) were investigated. Sensory function was measured using Semmes-Weinstein monofilaments, two-point discrimination, object recognition, and a locognosia test. Results Scores of the Semmes-Weinstein monofilaments and two-point discrimination, but not object recognition or locognosia, were significantly worse in those with OBPL than in those without OBPL. Interpretation There may be systematic abnormalities in sensory function in adults with conservatively treated OBPL. The existence of these impairments and their contribution to functional impairment needs to be acknowledged. [ABSTRACT FROM AUTHOR]

The Unilateral Below Elbow Test (UBET) was developed to evaluate function in bimanual activities for both the prosthesis wearer and non-wearer. Nine tasks were chosen for each of four age-specific categories defined by development stages of hand function (2–4y, 5–7y, 8–10y, and 11–21y). Two scales, Completion of Task and Method of Use, were designed to rate performance. To measure reliability, four occupational therapists scored samples of videotaped UBET performances. For Completion of Task, an interval scale, agreement in scoring was measured with interclass correlation coefficients (ICC; n=9; five females, four males). For Method of Use, a nominal scale, chance-adjusted association was calculated with Cohen's kappa coefficients (interobserver n=198; 111 females, 87 males; intraobserver n=93; 56 females, 37 males). For Completion of Task, the average ICC was 0.87 for the prosthesis-on condition, and 0.85 for the prosthesis-off condition. ICCs exceeded 0.80 for eight out of nine tasks for the two older age groups, but for only five out of nine tasks in the younger age groups. Higher inter- and intraobserver kappa coefficients for Method of Use resulted when scoring children with their prostheses on versus off. The oldest age group had lower kappa values than the other three groups. The UBET is recommended for the functional evaluation of Completion of Task in children with unilateral congenital below elbow deficiency with and without their prostheses. Method of Use scoring can evaluate individuals for directed therapy interventions or prosthetic training. [ABSTRACT FROM AUTHOR]

Aim The aim of this study was to describe patterns for gross motor development by level of severity in a Dutch population of individuals with cerebral palsy ( CP). Method This longitudinal study included 423 individuals (260 males, 163 females) with CP. The mean age at baseline was 9 years 6 months ( SD 6y 2mo, range 1-22y). The level of severity of CP among participants, according to the Gross Motor Function Classification System ( GMFCS), was 50% level I, 13% level II, 14% level III, 13% level IV, and 10% level V. Participants had been assessed up to four times with the Gross Motor Function Measure ( GMFM-66) at 1- or 2-year intervals between 2002 and 2009. Data were analysed using non-linear mixed effects modelling. For each GMFCS level, patterns were created by contrasting a stable limit model ( SLM) with a peak and decline model ( PDM), followed by estimating limits and rates of gross motor development. Results The SLM showed a better fit for all GMFCS levels than the PDM. Within the SLM, significant differences between GMFCS levels were found for both the limits (higher values for lower GMFCS levels) and the rates (higher values for GMFCS levels I- II vs level IV and for GMFCS levels I- IV vs level V) of gross motor development. Interpretation The results validate the existence of five distinct patterns for gross motor development by level of severity of CP. [ABSTRACT FROM AUTHOR]

Aim To study prevalence and risk factors for neurological disorders - epilepsy, global developmental delay, and motor, vision, and hearing defects - in children aged 6 months to 2 years in northern India. Method A two-stage community survey for neurological disorders was conducted in rural and urban areas of Lucknow. After initial screening with a new instrument, the Lucknow Neurodevelopment Screen, screen positives and a random proportion of screen negatives were validated using predefined criteria. Prevalence was calculated by weighted estimates. Demographic, socio-economic, and medical risk factors were compared between validated children who were positive and negative for neurological disorders by univariate and logistic regression analysis. Results Of 4801 children screened (mean age [ SD] 15.32mo [5.96]; 2542 males, 2259 females), 196 were positive; 190 screen positives and 269 screen negatives were validated. Prevalence of neurological disorders was 27.92 per 1000 (weighted 95% confidence interval 12.24-43.60). Significant risk factors ( p≤0.01) for neurological disorders were higher age in months ( p=0.010), lower mean number of appliances in the household ( p=0.001), consanguineous marriage of parents ( p=0.010), family history of neurological disorder ( p=0.001), and infants born exceptionally small (parental description; p=0.009). On logistic regression, the final model included age ( p=0.0193), number of appliances ( p=0.0161), delayed cry at birth ( p=0.0270), postneonatal meningoencephalitis ( p=0.0549), and consanguinity ( p=0.0801). Interpretation Perinatal factors, lower socio-economic status, and consanguinity emerged as predictors of neurological disorders. These factors are largely modifiable. [ABSTRACT FROM AUTHOR]

Aim To define better the phenotype and genotype of familial and sporadic cases of paroxysmal kinesigenic dyskinesia ( PKD) caused by mutations in the PRRT2 gene presenting in the paediatric age group. Method We report the detailed clinical and molecular genetic features of 11 patients (six females, five males) with childhood-onset PRRT2-mutation-positive PKD. Results Mean age at disease onset was 8 years 7.5 months (range 5-11y), and clinical presentation was characterized by daily short paroxysmal episodes of dystonia/dyskinesia. Most patients also had non-kinesigenic attacks in addition to the classical movement-induced paroxysmal episodes. One family demonstrated great phenotypic variability with PKD, infantile convulsions, and/or hemiplegic migraine affecting different family members with the same mutation. All patients in whom antiepileptics (carbamazepine/phenytoin) were tried showed a dramatic improvement with complete abolition of dyskinetic episodes. Interpretation Our case series provides a detailed clinical description of patients with PRRT2- PKD, and reports a spectrum of disease-causing mutations, thereby expanding both the clinical phenotype and mutation spectrum of disease. [ABSTRACT FROM AUTHOR]

Aim The aim of this cross-sectional study was to provide normative data (ordinal scores and timed performances) for gross and fine motor tasks in typically developing children between 3 and 5 years of age using the Zurich Neuromotor Assessment (ZNA). Method Typically developing children ( n=101; 48 males, 53 females) between 3 and 5 years of age were enrolled from day-care centres in the greater Zurich area and tested using a modified version of the ZNA; the tests were recorded digitally on video. Intraobserver reliability was assessed on the videos of 20 children by one examiner. Interobserver reliability was assessed by two examiners. Test-retest reliability was performed on an additional 20 children. The modelling approach summarized the data with a linear age effect and an additive term for sex, while incorporating informative missing data in the normative values. Normative data for adaptive motor tasks, pure motor tasks, and static and dynamic balance were calculated with centile curves (for timed performance) and expected ordinal scores (for ordinal scales). Results Interobserver, intraobserver, and test-retest reliability of tasks were moderate to good. Nearly all tasks showed significant age effects, whereas sex was significant only for stringing beads and hopping on one leg. Interpretation These results indicate that timed performance and ordinal scales of neuromotor tasks can be reliably measured in preschool children and are characterized by developmental change and high interindividual variability. [ABSTRACT FROM AUTHOR]

Aim The aim of this study was to determine the relationship between parent and child Full-scale IQ (FSIQ) in children with epilepsy and in typically developing comparison children and to examine parent-child IQ differences by epilepsy characteristics. Method The study participants were 97 children (50 males, 47 females; age range 8-18y; mean age 12y 3mo, SD 3y1mo) with recent-onset epilepsy including idiopathic generalized ( n=43) and idiopathic localization-related epilepsies ( n=54); 69 healthy comparison children (38 females, 31 males; age range 8-18y; mean age 12y 8mo, SD 3y 2mo), and one biological parent per child. All participants were administered the Wechsler Abbreviated Scale of Intelligence (WASI). FSIQ was compared in children with epilepsy and typically developing children; FSIQ was compared in the parents of typically developing children and the parents of participants with epilepsy; parent-child FSIQ differences were compared between the groups. Results FSIQ was lower in children with epilepsy than in comparison children ( p<0.001). FSIQ of parents of children with epilepsy did not differ from the FSIQ of the parents of typically developing children. Children with epilepsy had significantly lower FSIQ than their parents ( p<0.001), whereas comparison children did not. The parent-child IQ difference was significantly higher in the group with epilepsy than the comparison group ( p=0.043). Epilepsy characteristics were not related to parent-child IQ difference. Interpretation Parent-child IQ difference appears to be a marker of epilepsy impact independent of familial IQ, epilepsy syndrome, and clinical seizure features. This marker is evident early in the course of idiopathic epilepsies and can be tracked over time. [ABSTRACT FROM AUTHOR]