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Aim To compare the neurodevelopment of children with unilateral cerebral palsy (CP) with middle cerebral artery (MCA) and periventricular venous infarctions (PVIs). Method In this cross‐sectional study, children with unilateral CP completed a neurological exam, unimanual Quality of Upper Extremity Skills Test, hand usage questionnaires, and IQ test. Neuroimaging was obtained from health records. Results Two hundred and forty‐five participants with unilateral CP had neuroimaging (151 [61.9%] male, ages 2–18y, median=7y 6mo, interquartile range [IQR]=6y 7mo, with 93.6% in Gross Motor Function Classification System level I/II and 78.8% in Manual Ability Classification System level I/II). Ninety‐seven (39.6%) had MCA injuries and 106 (43.3%) had periventricular white matter injuries, of which 48 (45.3%) were PVIs. Median Quality of Upper Extremity Skills Test for the MCA group was 49.2 (IQR=55.8), PVI 79.9 (IQR=23.6) (Mann–Whitney U=988.50, p, Video Podcast: https://youtu.be/79w_s82qhr0

Hemiplegic cerebral palsy (CP), the most common subtype, is characterized by high levels of mobility. Despite this, children with hemiplegic CP can face challenges functioning in and adapting to situations of everyday life. The purpose of this cross-sectional study (Hemi-NET database) was to identify factors associated with adaptive behaviour in 59 children with hemiplegic CP (ages 4–18; GMFCS I-IV). Using multivariate regression analyses, the relationship between demographic, medical, and developmental factors and adaptive behaviour (measured by the Adaptive Skills Composite score of the BASC-2) was explored. Results indicate that 34% of children had impaired adaptive skills. An autism diagnosis and lower communication functioning were significantly associated with poorer adaptive skills (R2 = 0.42, F(4, 43) = 7.87, p

IntroductionYouth with brain-based disabilities (BBDs), as well as their parents/caregivers, often feel ill-prepared for the transfer from paediatric to adult healthcare services. To address this pressing issue, we developed the MyREADY TransitionTM BBD App, a patient-facing e-health intervention. The primary aim of this randomised controlled trial (RCT) was to determine whether the App will result in greater transition readiness compared with usual care for youth with BBD. Secondary aims included exploring the contextual experiences of youth using the App, as well as the interactive processes of youth, their parents/caregivers and healthcare providers around use of the intervention.Methods and analysisWe aimed to randomise 264 youth with BBD between 15 and 17 years of age, to receive existing services/usual care (control group) or to receive usual care along with the App (intervention group). Our recruitment strategy includes remote and virtual options in response to the current requirements for physical distancing due to the COVID-19 pandemic. We will use an embedded experimental model design which involves embedding a qualitative study within a RCT. The Transition Readiness Assessment Questionnaire will be administered as the primary outcome measure. Analysis of covariance will be used to compare change in the two groups on the primary outcome measure; analysis will be intention-to-treat. Interviews will be conducted with subsets of youth in the intervention group, as well as parents/caregivers and healthcare providers.Ethics and disseminationThe study has been approved by the research ethics board of each participating site in four different regions in Canada. We will leverage our patient and family partnerships to find novel dissemination strategies. Study findings will be shared with the academic and stakeholder community, including dissemination of teaching and training tools through patient associations, and patient and family advocacy groups.Trial registration numberNCT03852550.

Fibroblast growth factor homologous factors (FHFs) are intracellular proteins which regulate voltage-gated sodium (Na(v)) channels in the brain and other tissues. FHF dysfunction has been linked to neurological disorders including epilepsy. Here, we describe two sibling pairs and three unrelated males who presented in infancy with intractable focal seizures and severe developmental delay. Whole-exome sequencing identified hemi- and heterozygous variants in the N-terminal domain of the A isoform of FHF2 (FHF2A). The X-linked FHF2 gene (also known as FGF13) has alternative first exons which produce multiple protein isoforms that differ in their N-terminal sequence. The variants were located at highly conserved residues in the FHF2A inactivation particle that competes with the intrinsic fast inactivation mechanism of Na(v) channels. Functional characterization of mutant FHF2A co-expressed with wild-type Na(v)1.6 (SCN8A) revealed that mutant FHF2A proteins lost the ability to induce rapid-onset, long-term blockade of the channel while retaining pro-excitatory properties. These gain-of-function effects are likely to increase neuronal excitability consistent with the epileptic potential of FHF2 variants. Our findings demonstrate that FHF2 variants are a cause of infantile-onset developmental and epileptic encephalopathy and underline the critical role of the FHF2A isoform in regulating Na(v) channel function.

Children and adolescents with cerebral palsy often receive botulinum toxin A (BoNT-A) to manage hypertonia. This qualitative study aimed to describe and categorize BoNT-A effects that parents observed using the WHO’s International Classification of Functioning, Disability and Health (ICF) framework. An interpretive description methodology was used; semi-structured interviews were conducted with 15 parents of nonambulatory young people with cerebral palsy (mean age 10.2 years, SD 3.9, 7 males) who received BoNT-A. Parents reported BoNT-A effects on each ICF category. Through interpretive description, an overall theme emerged: “finding the right path to do what is best.” Five subthemes included (1) Parents’ hopes, (2) Parents’ goals for their child, (3) Parents’ learning what works, (4) Parents’ reflections, and (5) Parents’ destination. This study provides insights into parents’ journeys of how they learned about BoNT-A effects in their child, which helped them to identify goals for future treatment.

Purpose Hemiplegia is a subtype of cerebral palsy (CP) in which one side of the body is affected. Our earlier study of unselected children with CP demonstrated de novo and clinically relevant rare inherited genomic copy-number variations (CNVs) in 9.6% of participants. Here, we examined the prevalence and types of CNVs specifically in hemiplegic CP. Methods We genotyped 97 unrelated probands with hemiplegic CP and their parents. We compared their CNVs to those of 10,851 population controls, in order to identify rare CNVs (

This retrospective cohort study reviewed set goals and their outcomes of children and adolescents with severe cerebral palsy who received botulinum toxin A in 2008 and 2009. Sixty children (36 male, mean age 9 years) were included. They received on average 4 (range 1-7) treatments, with the dosage varying between 20 and 400 units per treatment (3-21 U/kg/body weight). Mild transient side effects were reported in 12 of 242 treatments with botulinum toxin A. Treatment goals were related to lower limb function (82%), range of motion (68%), positioning (33%), upper limb function (33%), and facilitating ease of care in dressing (30%), toileting, and diapering (22%). The treatment goals were reached in 60% to 85% by report of the parent and child dyad. Our findings suggest that botulinum toxin A should be considered as a treatment option in patients with cerebral palsy within Gross Motor Function Classification System levels IV and V.

Using resting state functional magnetic resonance imaging (MRI), we aim to understand the neurologic basis of improved function in children with hemiplegic cerebral palsy treated with constraint-induced movement therapy. Eleven children including 4 untreated comparison subjects diagnosed with hemiplegic cerebral palsy were recruited from 3 clinical centers. MRI and clinical data were gathered at baseline and 1 month for both groups, and 6 months later for the case group only. After constraint therapy, the sensorimotor resting state network became more bilateral, with balanced contributions from each hemisphere, which was sustained 6 months later. Sensorimotor resting state network reorganization after therapy was correlated with a change in the Quality of Upper Extremity Skills Test score at 1 month (r = 0.79, P = .06), and Canadian Occupational Performance Measure scores at 6 months (r = 0.82, P = .05). This clinically correlated resting state network reorganization provides further evidence of the neuroplastic mechanisms underlying constraint-induced movement therapy.

Objective Velocardiofacial syndrome (VCFS) is the most common multiple anomaly disorder associated with palatal clefting. Cytogenetic hemizygous deletion of 22q11 region is found in 80% of patients. The frequency of 22q11 deletion in patients presenting with isolated palatal anomalies has not been fully assessed. Our objective was to determine the frequency of the deletion in patients with isolated palatal anomalies. Design Patients were referred because of velopharyngeal insufficiency because of isolated congenital palatal anomalies. Diagnosis of palatal anomalies was confirmed by videonasopharyngoscopy, multiview videofluoroscopy and cephalometry. Other clinical findings suggestive of VCFS were sought, and subjects with these characteristics were excluded from the study. Peripheral blood samples from all patients were analyzed cytogenetically utilizing fluorescent in situ hybridization for the 22q11 region. Results Thirty-eight patients aged 3 to 31 years were included in the study. Nine had cleft palate, 7 cleft lip and palate, 10 overt and 11 occult submucous cleft palate, and 1 had a deep nasopharynx. No deletion of 22q11 region was detected in any of the evaluated patients. Conclusions A routine screening for the 22q11 deletion in older children and adults presenting with an isolated palatal anomaly may not be required. Because other signs related to VCFS such as facial dysmorphism and behavioral or psychiatric disorders may evolve at an older age, young patients should be followed up and reevaluated for additional relevant symptoms that may lead to deletion evaluation. In light of the fact that the current literature is inconsistent, the relative small size of this study and the significant consequences of missed 22q11.2 deletion, more information is needed before definitive recommendations can be made.

The aim was to identify neuroimaging predictors of clinical improvements following constraint-induced movement therapy. Resting state functional magnetic resonance and diffusion tensor imaging data was acquired in 7 children with hemiplegic cerebral palsy. Clinical and magnetic resonance imaging (MRI) data were acquired at baseline and 1 month later following a 3-week constraint therapy regimen. A more negative baseline laterality index characterizing an atypical unilateral sensorimotor resting state network significantly correlated with an improvement in the Canadian Occupational Performance Measure score (r = –0.81, P = .03). A more unilateral network with decreased activity in the affected hemisphere was associated with greater improvements in clinical scores. Higher mean diffusivity in the posterior limb of the internal capsule of the affect tract correlated significantly with improvements in the Jebsen-Taylor score (r = –0.83, P = .02). Children with more compromised networks and tracts improved the most following constraint therapy.

AIM Optimizing movement quality is a common rehabilitation goal for children with cerebral palsy (CP). The new Quality Function Measure (QFM) – a revision of the Gross Motor Performance Measure (GMPM) – evaluates five attributes: Alignment, Co-ordination, Dissociated movement, Stability, and Weight-shift, for the Gross Motor Function Measure (GMFM) Stand and Walk/Run/Jump items. This study evaluated the reliability and discriminant validity of the QFM. METHOD Thirty-three children with CP (17 females, 16 males; mean age 8y 11mo, SD 3y 1mo; Gross Motor Function Classification System [GMFCS] levels I [n=17], II [n=7], III [n=9]) participated in reliability testing. Each did a GMFM Stand/Walk assessment, repeated 2 weeks later. Both GMFM assessments were videotaped. A physiotherapist assessor pair independently scored the QFM from an assigned child’s GMFM video. GMFM data from 112 children. That is, (GMFCS I [n=38], II [n=27], III [n=47]) were used for discriminant validity evaluation. RESULTS QFM mean scores varied from 45.0% (SD 27.2; Stability) to 56.2% (SD 27.5; Alignment). Reliability was excellent across all attributes: intraclass correlation coefficients (ICCs) ≥0.97 (95% confidence intervals [CI] 0.95–0.99), interrater ICCs ≥0.89 (95% CI 0.80–0.98), and test–retest ICCs ≥0.90 (95% CI 0.79–0.99). QFM discriminated qualitative attributes of motor function among GMFCS levels (maximum p

Cerebral palsy, typically diagnosed in childhood, clearly continues into adulthood. This study describes the long-term medical, functional, educational, and psychosocial outcomes of people with cerebral palsy. Of the 203 people with cerebral palsy diagnosed and treated at the Child Development Center in Tel Aviv between 1975 and 1994, 163 (80%; age range 8-30 years, mean age 18.9 years, and median age 19 years) participated in a cross-sectional telephone survey. Half the respondents have chronic health problems: 78% report they experience gross motor disability, of whom 22% are wheelchair users; 30% to 50% need help in various activities of daily living; 35% have mental retardation; 79% completed 12 years or more of schooling; 78% live with their parents; 25% have served in the army; 23% have a driver’s license; and 23% work in competitive employment. The large majority is involved in varied leisure activities and report a high level of life satisfaction.

The medical, educational, and psychosocial outcomes of 3224 subjects (age range, 7-33 years; mean age, 20.06 years; SD, 5.74) diagnosed and treated in the Institute for Child Development in Tel Aviv between the years 1975 and 1994 were assessed by a telephone interview. Results indicate that only 9% of the subjects are seriously disabled, and 8% are mentally retarded. Over the years, subjects were referred to the Child Development Center at an increasingly younger age, probably reflecting greater professional and parental awareness of the importance of early intervention. The nature of interventions changed, so that physiotherapy, occupational therapy, and psychological guidance were more often provided. While more children were referred to special education at kindergarten, the percentage of those graduating from regular schools has increased. Most completed 12 years of schooling and successfully acquired full or partial matriculation certificates. As adults, most function independently; fulfill civic obligations, such as their army service; are fully employed; and express satisfaction with their life. These results suggest that children with developmental disabilities who receive early intervention are likely to be functionally independent and to be satisfied with their lives, although they continue to need medical services and require some government support. Further studies are essential to examine the correlation of specific risk factors and early interventions with outcome.

Muscle-related complaints and high creatine kinase (CK) blood levels have been reported in 16-51% of patients with acne treated with isotretinoin. It has been suggested that this retinoid and exercise have a synergistic effect on muscle. The presence of marked hyperCKemia during the treatment raises concern about rhabdomyolysis. The objective of this report was to evaluate the incidence, course and clinical significance of severe hyperCKemia in isotretinoin therapy for acne. Out of 442 patients on isotretinoin, we reviewed 7 patients (1.58%) with CK values above 5,000 IU/l. Only two of them had myalgia. Physical activity or intramuscular injection prior to blood testing was reported in 6 patients. CK values returned to normal within 2 weeks and all subjects except 2, completed treatment. In conclusion, marked hyperCKemia with or without muscle-related complaints in isotretinoin-treated patients with acne is a benign phenomenon.

Background:This study aims to assess current practices of Canadian physicians providing botulinum toxin-A (BoNT-A) treatments for children with hypertonia and to contrast these with international “best practice” recommendations, in order to identify practice variability and opportunities for knowledge translation.Methods:Thirteen Canadian physicians assembled to develop and analyze results of a cross-sectional electronic survey, sent to 50 physicians across Canada.Results:Seventy-eight percent (39/50) of physicians completed the survey. The most frequently identified assessment tools were Gross Motor Function Classification System, Modified Tardieu Scale and neurological examination. Goal-setting tools were infrequently utilized. Common indications for BoNT-A injections and the muscles injected were identified. Significant variability was identified in using BoNT-A for hip displacement associated with hypertonia. The most frequent adverse event reported was localized weakness; 54% reporting this “occasionally“ and 15% “frequently”. Generalized weakness, fatigue, ptosis, diplopia, dysphagia, aspiration, respiratory distress, dysphonia and urinary incontinence were reported rarely or never. For dosage, 52% identified 16 Units/kg body weight of Botox® as maximum. A majority (64%) reported a maximum 400 Units for injection at one time. For localization, electrical stimulation and ultrasound were used infrequently (38% and 19% respectively). Distraction was the most frequently used pain-management technique (64%).Conclusions:Canadian physicians generally adhere to international best practices when using BoNT-A to treat paediatric hypertonia. Two knowledge-translation opportunities were identified: use of individualized goal setting prior to BoNT-A and enhancing localization techniques. Physicians reported a good safety profile of BoNT-A in children.