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This article from the "Developmental Medicine & Child Neurology" journal discusses various studies on children with motor difficulties, cerebral palsy, arthrogryposis multiplex congenita, and other neurodevelopmental conditions. The research focuses on telecoaching interventions, epidemiology of cerebral palsy, health-related quality of life in arthrogryposis multiplex congenita, and early intervention models for children with cerebral palsy. Caregivers' insights into dystonia in children with cerebral palsy emphasize the complexity of movements, while another study highlights the multifaceted nature of fall concerns in individuals with cerebral palsy. Additionally, a study on muscle contractures in cerebral palsy reveals disruptions in the transcriptional regulation of muscle stem cells, offering potential insights for targeted therapies. [Extracted from the article]

The CP phenotype for each cohort was scored on the following criteria as either high confidence (fulfilled >=5 criteria), moderate (3-4), or low confidence (<=2): (i) CP defined with well acknowledged definition; (ii) clinical diagnosis of CP confirmed at time of recruitment; (iii) inclusion/exclusion criteria of the study met the clinical description of CP; (iv) CP clinically confirmed at >= age four; (v) motor disorders of CP well described; (vi) individual phenotyping data available. B Results b : Among the sample of children, 30 did not have CP and 45 had spastic CP (GMFCS levels I-V; 29 bilateral CP; 16 unilateral CP: 8 right, 8 left). B Background and Objective(s) b : The compounding effects of adverse health/function factors as individuals with cerebral palsy (CP) age into and through adulthood can create multiple pathways to complex medical profiles, but the patterns of comorbidities among adults with CP remains understudied. B Background and Objective(s) b : Cerebral palsy (CP) results in impairment of muscle function including muscles of the face, mouth, and throat, which may cause oropharyngeal dysphagia (OPD) and affects 85% of children with CP. B Background and Objective(s) b : The QEDIN-CP network provides training and support for early screening to fast-track infants to early intervention according to the cerebral palsy (CP) early detection guideline. [Extracted from the article]

An abstract of the article "Baseline findings from a pilot study to evaluate the use of postural support, constructed using Appropriate paper-based technology (APT), to be used with children with Cerebral Palsy in Kenya" by Rachel Lindoewood and others is presented.

Aim: (1) To systematically review the literature on developmental outcomes from infancy to adolescence of children with complex congenital heart disease (CHD) who underwent early surgery; (2) to run a meta-regression analysis on the Bayley Scales of Infant Development, Second Edition Mental Developmental Index and Psychomotor Developmental Index (PDI) of infants up to 24 months and IQs of preschool-aged children to adolescents; (3) to assess associations between perioperative risk factors and outcomes.Method: We searched pertinent literature (January 1990 to January 2019) in PubMed, Embase, CINAHL, and PsycINFO. Selection criteria included infants with complex CHD who had primary surgery within the first 9 weeks of life. Methodological quality, including risk of bias and internal validity, were assessed.Results: In total, 185 papers met the inclusion criteria; the 100 with high to moderate methodological quality were analysed in detail. Substantial heterogeneity in the group with CHD and in methodology existed. The outcome of infants with single-ventricle CHD was inferior to those with two-ventricle CHD (respectively: average scores for PDI 77 and 88; intelligence scores 92 and 98). Perioperative risk factors were inconsistently associated with developmental outcomes.Interpretation: The literature on children undergoing surgery in early infancy suggests that infants with a single ventricle are at highest risk of adverse developmental outcomes. [ABSTRACT FROM AUTHOR]

Aim: To identify the research on childhood disability service adaptations and their impact on children and young people with long‐term disability during the COVID‐19 pandemic. Method: A mapping review was undertaken. We searched the World Health Organization Global COVID‐19 database using the search terms 'children', 'chronic/disabling conditions', and 'services/therapies'. Eligible papers reported service changes for children (0–19 years) with long‐term disability in any geographical or clinical setting between 1st January 2020 and 26th January 2022. Papers were charted across the effective practice and organization of care taxonomy of health system interventions and were narratively synthesized; an interactive map was produced. Results: Reduction of face‐to‐face care and usual provision had a huge impact on children and families. Adoption of telehealth provided continuity for the care and management of some conditions. There was limited evidence of changes to mental health services, transitions of care, social care, or child‐reported satisfaction or acceptability of service changes. Interpretation: The long‐term impacts of service change during the pandemic need full evaluation. However, widespread disruption seems to have had a profound impact on child and carer health and well‐being. Service recovery needs to be specific to the individual needs of children with a disability and their families. This should be done through coproduction to ensure that service changes meet needs and are accessible and equitable. [ABSTRACT FROM AUTHOR]

Aim: Taping is popular in a variety of paediatric clinical settings. The purpose of this study was to investigate the effectiveness of taping on the rehabilitation of children with cerebral palsy (CP).Method: We used MEDLINE, Embase, PubMed, CINAHL, and the Cochrane Central Register of Controlled Trials as the electronic databases for the review. We reviewed all relevant studies published up to May 2015. We also analysed pertinent secondary references. We used Sackett's Levels of Evidence and the guidelines for critical review of McMaster University to criticize the reviewed articles.Results: Nine papers met the inclusion criteria. Five of these were randomized controlled trials, three were case series, and one was a single case study. Four papers were high quality according to the methodological critical forms of this review, and two of these found that taping was effective in increasing activity in children with CP.Interpretation: Although benefits of taping were found in the population, and functional gains according to the International Classification of Functioning, Disability and Health were obtained, the evidence was not conclusive. Randomized controlled trials with larger sample sizes and with more specific taping procedures are required to strengthen the evidence for the effectiveness of taping on children with CP. [ABSTRACT FROM AUTHOR]

The article presents abstracts of articles on topics including upper limb orthoses for children with cerebral palsy, motor development in infants with asymmetric brain injury, and risk of cerebral palsy in infants.

Observational studies have a critical role in disability research, providing the opportunity to address a range of research questions. Over the past decades, there have been substantial shifts and developments in statistical methods for observational studies, most notably for causal inference. In this review, we provide an overview of modern design and analysis concepts critical for observational studies, drawing examples from the field of disability research and highlighting the challenges in this field, to inform the readership on important statistical considerations for their studies. What this paper adds: Descriptive research questions have specific analytical complexities, so careful statistical design before analysis is critical.Prediction research aims to produce a model with good predictive ability and requires thorough statistical design prior to analysis.Causal research requires careful statistical analysis planning, facilitated by modern causal inference concepts and analytical methods.Adopting these approaches will strengthen the quality of observational studies addressing a range of research questions in the disability space. What this paper adds: Descriptive research questions have specific analytical complexities, so careful statistical design before analysis is critical.Prediction research aims to produce a model with good predictive ability and requires thorough statistical design prior to analysis.Causal research requires careful statistical analysis planning, facilitated by modern causal inference concepts and analytical methods.Adopting these approaches will strengthen the quality of observational studies addressing a range of research questions in the disability space. [ABSTRACT FROM AUTHOR]

Aim: To investigate parenting and mother–child interactions in unaffected siblings of autistic children. Method: This cross‐sectional study enrolled 274 probands with a DSM‐5 diagnosis of autism spectrum disorder (ASD) (87.4% male; mean [SD] age = 11 years 4 months [3 years 2 months]), their unaffected siblings (n = 274, 46.72% male; mean [SD] age = 11 years 3 months [3 years 4 months]), and 296 age‐balanced and sex‐balanced typically developing children (82.77% male; mean [SD] age = 11 years 3 months [2 years 8 months]). Maternal parenting styles and mother–child interactions were assessed using maternal reporting. Results: Regardless of the child's age, maternal educational level, or presence of attention‐deficit/hyperactivity disorder, autistic children received more overprotective and controlling parental behaviour than unaffected children. Correlates for parenting, mother–child interactions, and behavioural problems in the home setting in children with ASD and typically developing children were autistic traits, maternal anxiety and depressive symptoms, and maternal autistic characteristics; those in unaffected siblings were age, autistic traits, maternal educational level, and maternal autistic characteristics. Interpretation: The diagnosis of ASD in a child can significantly influence maternal parenting behaviours, mother–child interactions, and the child's behavioural problems in the home setting. Furthermore, maternal anxiety or depressive symptoms, along with autistic characteristics in both mother and child, might shape parenting practices and exacerbate behavioural difficulties in autistic children. What this paper adds: Autistic children received more overprotective and controlling parenting.In children with autism spectrum disorder and typically developing children, autistic traits, maternal anxiety and depression, and maternal autistic characteristics were correlated.In unaffected siblings, age, autistic traits, maternal education, and maternal autistic characteristics were correlated. What this paper adds: Autistic children received more overprotective and controlling parenting.In children with autism spectrum disorder and typically developing children, autistic traits, maternal anxiety and depression, and maternal autistic characteristics were correlated.In unaffected siblings, age, autistic traits, maternal education, and maternal autistic characteristics were correlated. This original article is commented by Ng on pages 1401–1402 of this issue. [ABSTRACT FROM AUTHOR]

Aim: To describe the aetiological risk factors, clinical characteristics, access to rehabilitation, and educational status of children with cerebral palsy (CP) in Suriname. Method: Hospital‐based surveillance of children with CP aged younger than 18 years was conducted at the Academic Hospital Paramaribo, Suriname (known as the Suriname CP Register [SUR‐CPR]). Data were collected on sociodemographic characteristics, aetiological risk factors, clinical characteristics, rehabilitation, and educational status. Registry data on aetiological risk factors were compared with available national prevalence rates in Suriname. Descriptive statistics were reported. Results: Between August 2018 and March 2020, 82 children with CP (mean [SD] age 5 years 10 months [3 years 10 months]) attending the Academic Hospital Paramaribo were registered in the SUR‐CPR. The mean (SD) age at diagnosis was 5 years 5 months (4 years 1 month). Spastic CP was predominant in 90.8% of children and 58.8% were classified in Gross Motor Function Classification System levels III to V. Overall, 43.9% had preterm birth compared with 13.9% reported nationally (p < 0.001) and 61.6% had birth‐related complications compared with 15% reported nationally (p < 0.001). Additionally, 39.1% had birth asphyxia and 23.2% had early feeding difficulties. Sixty‐two percent were admitted to the neonatal intensive care unit, 54.0% of whom required ventilation. Most children (82.5%) had CP acquired pre‐ or perinatally and 17.5% had CP acquired postneonatally. Seventeen percent had never received any rehabilitation services, and 31.9% of the school‐aged children were not enrolled in any education system. Interpretation: The high burden of known aetiological risk factors, delayed diagnosis, and severe functional impairment among children with CP registered at the Academic Hospital Paramaribo is concerning. Public health interventions targeting early diagnosis and early intervention could improve the functional outcome of children with CP in Suriname. What this paper adds: Almost half of the children with cerebral palsy (CP) had preterm birth, low birthweight, and signs of birth asphyxia.Most of the children were diagnosed after 5 years of age.Overall, 52.5% of children had severe forms of CP of whom only 36.6% received any assistive devices. What this paper adds: Almost half of the children with cerebral palsy (CP) had preterm birth, low birthweight, and signs of birth asphyxia.Most of the children were diagnosed after 5 years of age.Overall, 52.5% of children had severe forms of CP of whom only 36.6% received any assistive devices. This original article is commented by van der Woerd and Soekhai on pages 1404–1405 of this issue. [ABSTRACT FROM AUTHOR]

Aim: To describe the distribution of neuroimaging patterns in a term/late preterm population‐based cohort with cerebral palsy (CP), ascertain associations between neuroimaging patterns and neonatal well‐being, estimate the proportion with antenatal or perinatal timing of neuropathology, and apply this information to the understanding of common mechanisms of brain injury and causal pathways. Method: The cohort for this observational study comprised 1348 persons born between 1999 and 2017 in Victoria, Australia. Using algorithms designed for the study, neonatal well‐being and timing of brain injury were tabulated for the whole cohort and across neuroimaging patterns and birth epochs. Results: Clinical and demographic profiles, neonatal well‐being, and timing of brain injury differed across neuroimaging patterns. An estimated 57% of the cohort had a complicated neonatal period. Timing of brain injury was antenatal in 57% and perinatal in 41%. A decrease in the relative proportions of perinatal timing of brain injury was observed over a period when the rates of CP in live births at term decreased. Interpretation: This study begins to bridge the knowledge gap about causation in CP, moving towards better description of the main mechanisms of brain injury and their contribution within CP cohorts, and facilitating the ability to monitor changes over time and the success of preventive measures. What this paper adds: In a population‐based, term/late preterm cohort with cerebral palsy, 57% had a complicated neonatal period.In the same cohort, 57% had presumed antenatal timing of brain injury.The relative proportion with perinatal injury decreased over time. What this paper adds: In a population‐based, term/late preterm cohort with cerebral palsy, 57% had a complicated neonatal period.In the same cohort, 57% had presumed antenatal timing of brain injury.The relative proportion with perinatal injury decreased over time. This original article is commented on by O'Shea on pages 829–830 of this issue. [ABSTRACT FROM AUTHOR]

Aim: To systematically review the effectiveness of caregiver and parent skills training programs, including caregiver‐mediated interventions, for caregivers of individuals with neurodevelopmental disorders. Method: We conducted a systematic review with a random‐effects meta‐analysis. We searched 11 electronic databases through July 2021 and used a snowball methodology to locate relevant articles of randomized controlled trials. Effect size estimates were pooled using Hedges' g from data extracted from study reports and through author requests using random‐effects meta‐analyses for three child outcome categories (child development, adaptive behavior, and problem behavior) and three caregiver outcome categories (parenting skills and knowledge, psychological well‐being, and interpersonal family relations). Results: We located 44 910 records, from which 75 randomized controlled trials involving 4746 individuals with neurodevelopmental disorders and their caregivers were included. Random‐effects meta‐analyses showed improvements in child development (g = 0.30; 99% confidence interval [CI] = 0.07–0.53) and reduction in reported problem behaviors (g = 0.41; 99% CI = 0.24–0.59), but not a statistically significant improvement in adaptive behavior (g = 0.28; 99% CI = −0.42 to 0.98). Caregivers showed improvements in parenting skills and knowledge (g = 0.72; 99% CI = 0.53–0.90), psychological well‐being (g = 0.52; 99% CI = 0.34–0.71), and interpersonal family relations (g = 0.76; 99% CI = 0.32–1.20). Interpretation: Caregiver skills training programs benefit both caregivers and children with neurodevelopmental disorders. Skills training programs improve child development and behavior, improve parenting skills, reduce caregiver mental health issues, and improve family functioning. Programs using culturally appropriate training material to improve the development, functioning, and participation of children within families and communities should be considered when caring for children with neurodevelopmental disorders. What this paper adds: Caregiver skills training programs are effective interventions for both caregivers and children.Children with neurodevelopmental disorders benefit from improvements in development and reduction of problematic behaviors.Caregivers benefit from enhanced skills and psychological well‐being.Improvements in interpersonal family relationships have also been documented. What this paper adds: Caregiver skills training programs are effective interventions for both caregivers and children.Children with neurodevelopmental disorders benefit from improvements in development and reduction of problematic behaviors.Caregivers benefit from enhanced skills and psychological well‐being.Improvements in interpersonal family relationships have also been documented. This systematic review is commented on by Lau on pages 684–685 of this issue. [ABSTRACT FROM AUTHOR]

Aim: To assess the risks, benefits, and resource implications of home‐blended food for children with gastrostomy tubes compared with a formula diet. Method: This prospective cohort study of children (aged 0–18 years) collected baseline data on gastrointestinal symptoms, nutritional intake, anthropometric outcomes, parent and child quality of life, and resource use. A propensity score‐weighted generalized linear mixed model was used to compare children receiving a home‐blended versus formula diet. Results: Baseline data were obtained for 180 children (2019–2021; 107 males, 73 females; mean age 9 years 7 months [SD 4 years 5 months]). Children receiving a home‐blended diet (n = 104) had similar diagnoses and age but more lived in areas of lower deprivation and parental education was higher compared to the parents of children receiving a formula diet (n = 76). Children receiving home‐blended diets had significantly better gastrointestinal scores than those receiving formula diets (B = 13.8, p < 0.001). The number of gut infections and tube blockages were similar between the two groups but with fewer stoma site infections in the group receiving home‐blended food. Children receiving a home‐blended diet had more fibre in their diet compared to children receiving a formula diet. Interpretation: Home‐blended diets should be seen as a safe option for children who are gastrostomy‐fed unless clinically contraindicated. Equality of access to home‐blended diets for children with gastrostomy should be assessed by local clinical teams. What this paper adds: Children with gastrostomy receiving a home‐blended diet had fewer gastrointestinal symptoms compared to children receiving a formula diet.Children with gastrostomy receiving a home‐blended diet had no more complications than children receiving a formula diet. What this paper adds: Children with gastrostomy receiving a home‐blended diet had fewer gastrointestinal symptoms compared to children receiving a formula diet.Children with gastrostomy receiving a home‐blended diet had no more complications than children receiving a formula diet. [ABSTRACT FROM AUTHOR]

The vulnerability of children with disabilities to human rights abuses, including in health care, is well documented. Medical professionals can too often breach rather than fulfil the rights of children with disabilities, often through misunderstandings about the law, an inevitable consequence of, as identified by the United Nation's Committee for the Rights of the Child, medical professionals too often not receiving systematic and effective training in children's rights. This paper explores some key rights vital to the health and well-being of children with disabilities and shows how the guidance known as General Comments published by the United Nation's Committee on the Rights of the Child can assist medical professionals in ensuring the rights of children with disabilities in their care are fulfilled. It will also outline the human rights model of disability and explain how adopting this model in day-to-day practice, as required by international law, will empower medical professionals to help fulfil the human rights of children with disabilities. Suggestions are also made as to how training in human rights for medical professionals might be facilitated. [ABSTRACT FROM AUTHOR]

Aim: To investigate how children with cerebral palsy (CP) perform in the Danish school system and which factors are associated with school performance. Method: This was a population‐based cohort study including 463 126 children born from 1997 to 2003. Data were extracted from seven national registries. The study encompassed 818 children with CP (483 [59.0%] males, 335 [41.0%] females) and 417 731 without CP (214 535 [51.4%] males, 203 196 [48.6%] females). We evaluated two primary outcomes: not completing 10 years of elementary school, defined as attending fewer than eight final mandatory exams; and grade point averages (GPAs). Mann–Whitney U tests were used to analyse differences in GPAs and logistic regressions were used to calculate odds ratios (ORs). Results: Among children with and without CP, 62.6% and 12.4% did not complete elementary school respectively (OR = 11.85 [10.28–13.66]). Additionally, children with CP who attended all final exams achieved lower overall GPAs than children without CP (6.6 vs 7.3, p = 0.001). In children with CP, comorbidities, maternal education, severity of motor impairments, and intellectual deficits were associated with increased odds of not completing elementary school. Notably, one‐third of children with CP with apparent normal intelligence did not complete school, despite special educational measures. Interpretation: Danish children with CP rarely complete elementary school despite initiatives for a more supportive educational system. The complexity of individual needs in children with CP may be challenging for an inclusive school environment. What this paper adds: Children with cerebral palsy (CP) have a high risk of not completing elementary school.Children with CP achieve lower overall grades than children without CP.Motor impairment, comorbidities, and maternal education are associated with poor school performance.Intellectual impairment is the most important predictor of poor school performance. What this paper adds: Children with cerebral palsy (CP) have a high risk of not completing elementary school.Children with CP achieve lower overall grades than children without CP.Motor impairment, comorbidities, and maternal education are associated with poor school performance.Intellectual impairment is the most important predictor of poor school performance. This original article is commented on by Lebeer on pages 1273–1274 of this issue. [ABSTRACT FROM AUTHOR]

Hypertonia in childhood may arise because of a variable combination of neuronal and non‐neuronal factors. Involuntary muscle contraction may be due to spasticity or dystonia, which represent disorders of the spinal reflex arch and of central motor output respectively. Whilst consensus definitions for dystonia have been established, definitions of spasticity vary, highlighting the lack of a single unifying nomenclature in the field of clinical movement science. The term spastic dystonia refers to involuntary tonic muscle contraction in the context of an upper motor neuron (UMN) lesion. This review considers the utility of the term spastic dystonia, exploring our understanding of the pathophysiology of dystonia and the UMN syndrome. An argument is advanced that spastic dystonia is a valid construct that warrants further exploration. What this paper adds: There is no single universally accepted definitions for terms commonly used to describe motor disorders.Spasticity and dystonia are phenomenologically and pathophysiologically distinct entities.Spastic dystonia represents a subset of dystonia, but with pathophysiological mechanisms more in common with spasticity. What this paper adds: There is no single universally accepted definitions for terms commonly used to describe motor disorders.Spasticity and dystonia are phenomenologically and pathophysiologically distinct entities.Spastic dystonia represents a subset of dystonia, but with pathophysiological mechanisms more in common with spasticity. [ABSTRACT FROM AUTHOR]

Placebo responses are frequently observed in research studies and clinical contexts, yet there is limited knowledge about the placebo effect among children with neurodevelopmental disorders. Here, we review the placebo effect in autism spectrum disorder (ASD). Placebo responses are widely evident in ASD clinical trials and could partly operate via so‐called placebo‐by‐proxy, whereby caregivers or clinicians indirectly shape patient outcomes. Understanding the role of placebo effects in ASD may help discern genuine treatment effects from contextual factors in clinical trials. The much less studied nocebo effect, or negative placebo, might contribute to the experience of side effects in ASD treatments but empirical data is missing. Better knowledge about placebo and nocebo mechanisms may contribute to the development of more effective research designs, such as three‐armed designs that account for natural history, and improved treatments for ASD symptoms. At a clinical level, deeper knowledge about placebo and nocebo effects may optimize the delivery of care for individuals with ASD in the future. What this paper adds: Placebo responses are evident in autism spectrum disorder (ASD) clinical trials.Placebo responses in ASD are likely dependent on a placebo‐by‐proxy mechanism. What this paper adds: Placebo responses are evident in autism spectrum disorder (ASD) clinical trials.Placebo responses in ASD are likely dependent on a placebo‐by‐proxy mechanism. [ABSTRACT FROM AUTHOR]

Aim Method Results Interpretation To identify and describe assessment tools used to measure the impact of comorbidities on postoperative outcomes in children with complex chronic conditions (CCC).This was a scoping review using five electronic databases. The search was conducted in March 2022 by a medical librarian. There were no date or language restrictions. Included studies were full‐text articles published in peer‐reviewed journals that described a tool used to measure the impact of comorbidities in children with CCC to assess postoperative outcomes. A standardized data charting tool was used.A total of 2157 articles were retrieved. Five studies reporting on six comorbidity measures met inclusion criteria. All were cohort studies and were secondary analyses of data from an administrative database (n = 4) or a patient registry (n = 1). Sample sizes ranged from 645 to 25 747 participants. One paper described the assessment of reliability. Only one form of validity – predictive validity – was assessed in three papers for five measures.Findings from this scoping review revealed a paucity of comorbidity assessment tools validated for use with children with CCC; significant conceptual and measurement challenges exist in the current scientific literature. [ABSTRACT FROM AUTHOR]

Magnetoencephalography (MEG) is a neurophysiological technique based on the detection of brain magnetic fields. Whole‐head MEG systems typically house a few hundred sensors requiring cryogenic cooling in a rigid one‐size‐fits‐all (commonly adult‐sized) helmet to keep a thermal insulation space. This leads to an increased brain‐to‐sensor distance in children, because of their smaller head circumference, and decreased signal‐to‐noise ratio. MEG allows detection and localization of interictal and ictal epileptiform discharges, and pathological high frequency oscillations, as a part of the presurgical assessment of children with refractory focal epilepsy, where electroencephalography is not contributive. MEG can also map the eloquent cortex before surgical resection. MEG also provides insights into the physiopathology of both generalized and focal epilepsy. On‐scalp recordings based on cryogenic‐free sensors have demonstrated their use in the field of childhood focal epilepsy and should become a reference technique for diagnosing epilepsy in the paediatric population. What this paper adds: Magnetoencephalography (MEG) contributes to the diagnosis and understanding of paediatric epilepsy.On‐scalp MEG recordings demonstrate some advantages over cryogenic MEG. What this paper adds: Magnetoencephalography (MEG) contributes to the diagnosis and understanding of paediatric epilepsy.On‐scalp MEG recordings demonstrate some advantages over cryogenic MEG. [ABSTRACT FROM AUTHOR]

Aim: To describe visual function in children with Joubert syndrome and to investigate its possible association with diagnostic and developmental aspects. Method: This retrospective cross‐sectional work included 59 patients (33 male; mean age 9 years 2 months, standard deviation 6 years 3 months, range 4 months to 23 years) diagnosed with Joubert syndrome from January 2002 to December 2020. Data about clinical (neurological, neuro‐ophthalmological, developmental/cognitive) and diagnostic (e.g. genetic testing, neuroimaging, systemic involvement) evaluations were collected in a data set during a review of medical records. Clinical and diagnostic variables were described in terms of raw counts and percentages. A χ2 test was conducted to investigate their association with neuropsychological skills. Results: Ocular motor apraxia was highly represented in our cohort (75%), with a high prevalence of refractive defects and retinal abnormalities. Developmental delay/intellectual disability was frequent (in 69.5% of the sample), associated with retinal dystrophy (p = 0.047) and reduced visual acuity both for near (p = 0.014) and for far distances (p = 0.017). Interpretation: On the basis of the relevance of oculomotor and perceptual alterations and their impact on overall and cognitive impairment, we encourage early and multidisciplinary assessment and follow‐up of visual function in children with Joubert syndrome. This would help in planning a personalized rehabilitation to sustain functional vision. Further studies will be important to explore the link between biological aspects and global functioning in children with Joubert syndrome. What this paper adds: Perceptual deficits and oculomotor impairments frequently coexist in Joubert syndrome.Retinal dysfunction may be present despite the absence of funduscopic abnormalities.Both perceptual and oculomotor impairments negatively affect cognitive development in Joubert syndrome. What this paper adds: Perceptual deficits and oculomotor impairments frequently coexist in Joubert syndrome.Retinal dysfunction may be present despite the absence of funduscopic abnormalities.Both perceptual and oculomotor impairments negatively affect cognitive development in Joubert syndrome. [ABSTRACT FROM AUTHOR]

Aim: To describe caregiver experiences, perceptions, and device preferences between a modified ride‐on car (MROC) and an Explorer Mini, including perceived changes in participation, barriers, and benefits for young children with cerebral palsy (CP) classified in Gross Motor Function Classification System (GMFCS) level V. Method: A subset of data were analyzed from a larger multisite study. Semi‐structured interviews were conducted with 10 caregivers of children with CP in GMFCS level V across a 16‐week trial with two mobility devices. Each interview was audio‐recorded, transcribed verbatim, and analysed using constant comparison methods. Results: Seven of 10 caregivers preferred the Explorer Mini over the MROC. Four themes emerged. One related to the perceived benefits and barriers of each device (ease and convenience is essential) and three related to perceived changes in participation: (1) autonomy enacted through mobility; (2) belonging and being present; and (3) participation recognized as an area of growth. Interpretation: Despite limited consideration of powered mobility for this population, caregivers of children in GMFCS level V reported similar benefits and barriers compared to children in other GMFCS levels shown in the literature. Particularly, caregivers perceived positive changes in their child's participation and recognized the ability for continued improvements in participation when using powered mobility. What this paper adds: Children with cerebral palsy classified in Gross Motor Function Classification System level V are often excluded from powered mobility use and research.Despite this, caregivers reported positive experiences for their children.Caregivers felt that participation in powered mobility led to increased autonomy and overall sense of inclusion and belonging for their children.Most caregivers preferred the Explorer Mini over the modified ride‐on car but recognized that both devices had benefits and barriers to use. What this paper adds: Children with cerebral palsy classified in Gross Motor Function Classification System level V are often excluded from powered mobility use and research.Despite this, caregivers reported positive experiences for their children.Caregivers felt that participation in powered mobility led to increased autonomy and overall sense of inclusion and belonging for their children.Most caregivers preferred the Explorer Mini over the modified ride‐on car but recognized that both devices had benefits and barriers to use. This original article is commented on by Jahan and Islam on pages 276–277 of this issue. [ABSTRACT FROM AUTHOR]

Aim: To establish the burden of respiratory illness in cerebral palsy (CP) on the Western Australian health care system by quantifying the costs of respiratory hospitalizations in children with CP, compared with non‐respiratory hospitalizations. Method: A 2‐year (2014–2015) retrospective study using linked hospital data (excluding emergency department visits), in a population of children with CP in Western Australia aged 18 years and under (median age at hospitalization 7 years; interquartile range 5–12 years). Results: In 671 individuals (57% male) there were 726 emergency hospitalizations, and 1631 elective hospitalizations. Although there were more elective hospitalizations, emergency hospitalizations were associated with longer stays in hospital, and more days in an intensive care unit, resulting in a higher total cost of emergency hospitalizations than elective hospitalizations (total costs: emergency AU$7 748 718 vs elective AU$6 738 187). 'Respiratory' was the leading cause of emergency hospitalizations, contributing to 36% of all emergency admission costs. For a group of high‐cost inpatient users (top 5% of individuals with the highest total inpatient costs) the most common reason for hospitalization was 'respiratory'. Where non‐respiratory admissions were complicated by an additional respiratory diagnosis, length of stay was greater. Interpretation: Respiratory hospitalizations in CP are a significant driver of health care costs. In the paediatric group, they are a burden for a subgroup of children with CP. What this paper adds: Respiratory illness is the most costly area for unplanned, emergency hospitalizations for children and young people with cerebral palsy.The top 5% of individuals with the highest total inpatient costs account for a disproportionate amount of health care costs. What this paper adds: Respiratory illness is the most costly area for unplanned, emergency hospitalizations for children and young people with cerebral palsy.The top 5% of individuals with the highest total inpatient costs account for a disproportionate amount of health care costs. [ABSTRACT FROM AUTHOR]

Aim: To undertake a systematic review and meta‐analysis exploring school‐age neurodevelopmental outcomes of children after low‐grade intraventricular haemorrhage (IVH). Method: The published and grey literature was extensively searched to identify observational comparative studies exploring neurodevelopmental outcomes after IVH grades 1 and 2. Our primary outcome was neurodevelopmental impairment after 5 years of age, which included cognitive, motor, speech and language, behavioural, hearing, or visual impairments. Results: This review included 12 studies and over 2036 infants born preterm with low grade IVH. Studies used 30 different neurodevelopmental tools to determine outcomes. There was conflicting evidence of the composite risk of neurodevelopmental impairment after low‐grade IVH. There was evidence of an association between low‐grade IVH and lower IQ at school age (−4.23, 95% confidence interval [CI] –7.53, −0.92, I2 = 0%) but impact on school performance was unclear. Studies reported an increased crude risk of cerebral palsy after low‐grade IVH (odds ratio [OR] 2.92, 95% CI 1.95, 4.37, I2 = 41%). No increased risk of speech and language impairment or behavioural impairment was found. Few studies addressed hearing and visual impairment. Interpretation: This systematic review presents evidence that low‐grade IVH is associated with specific neurodevelopmental impairments at school age, lending support to the theory that low‐grade IVH is not a benign condition. What this paper adds: The functional impact of low‐grade intraventricular haemorrhage (IVH) at school age is unknown.Low‐grade IVH is associated with a lower IQ at school age.The risk of cerebral palsy is increased after low‐grade IVH.Low‐grade IVH is not associated with speech and language impairment. What this paper adds: The functional impact of low‐grade intraventricular haemorrhage (IVH) at school age is unknown.Low‐grade IVH is associated with a lower IQ at school age.The risk of cerebral palsy is increased after low‐grade IVH.Low‐grade IVH is not associated with speech and language impairment. [ABSTRACT FROM AUTHOR]

Aim: To synthesize the evidence about the main intervention characteristics of cognitive behavioral therapies (CBTs) for individuals with cerebral palsy and identify barriers and facilitators to their success, focusing on aspects of feasibility and markers of success. Method: A scoping review methodology informed a literature search for papers published between 1991 and 2021. Articles were screened, reviewed, and categorized using the DistillerSR systematic review software, and critically appraised for quantitative and/or qualitative criteria. Results: Out of 1265 publications identified, 14 met the inclusion criteria. Elements associated with the specific study participant characteristics (46% female; aged 6–65 years), type of CBT techniques used (third‐wave [n = 6], cognitive [n = 3], cognitive and behavioral [n = 2], biofeedback training [n = 2]), and features of the study context and methodological quality (two randomized clinical trials and small sample sizes [n ≤ 12]), were identified. Most studies had psychological targets of intervention (n = 10) and secondary physiological (n = 3) or social (n = 2) objectives. Feasibility indicators were described in nearly one‐third of the papers. Interpretation: This study highlights the high flexibility within CBT interventions, enabling their adaptation for individuals with cerebral palsy. However, relatively little, and only low‐certainty evidence was identified. More high‐quality research in terms of specific CBT techniques, optimal treatment doses, and detailed population characteristics are needed. [ABSTRACT FROM AUTHOR]

Aim: To estimate the global prevalence of intellectual developmental disorder (IDD) and the IDD prevalence–genotype association in Becker muscular dystrophy (BMD) or Duchenne muscular dystrophy (DMD) according to the affected isoforms of the DMD gene: Dp427, Dp140, Dp71. Method: Systematic searches in MEDLINE, Scopus, Web of Science, and the Cochrane Library were conducted from inception of each database to March 2022. Observational studies that determined the prevalence of IDD in the population with BMD or DMD were included. Meta‐analyses of IDD prevalence and prevalence ratios of the IDD–genotype association were conducted. Results: Forty‐nine studies were included. The prevalence of IDD in BMD was 8.0% (95% confidence interval 5.0–11.0), and in DMD it was 22.0% (18.0–27.0). Meta‐analyses of IDD–genotype association showed a deleterious association between IDD and the number of isoforms affected in DMD, with a prevalence ratio = 0.43 (0.28–0.64) and 0.17 (0.09–0.34) for Dp140+/Dp71+ versus Dp140−/Dp71+ and Dp140+/Dp71+ versus Dp140−/Dp71− comparisons respectively. However, in BMD, there was no association for Dp140+/Dp71+ versus Dp140−/Dp71+. Interpretation: There is a high prevalence of IDD in BMD and DMD. Moreover, the number of isoforms affected is strongly and negatively associated with the prevalence of IDD in DMD. What this paper adds: The global prevalence of intellectual developmental disorder (IDD) was 8% in Becker muscular dystrophy and 22% in Duchenne muscular dystrophy (DMD).The global prevalence of IDD in DMD was 12%, 29%, and 84% in participants with Dp427−/Dp140+/Dp71+, Dp427−/Dp140−/Dp71+, and Dp427−/Dp140−/Dp71− genotypes respectively.In DMD, 12% and 22% of participants had abnormal performance IQ and verbal IQ values respectively. What this paper adds: The global prevalence of intellectual developmental disorder (IDD) was 8% in Becker muscular dystrophy and 22% in Duchenne muscular dystrophy (DMD).The global prevalence of IDD in DMD was 12%, 29%, and 84% in participants with Dp427−/Dp140+/Dp71+, Dp427−/Dp140−/Dp71+, and Dp427−/Dp140−/Dp71− genotypes respectively.In DMD, 12% and 22% of participants had abnormal performance IQ and verbal IQ values respectively. [ABSTRACT FROM AUTHOR]

Aim: To compare the efficacy of 0, 5, and 20 sessions of transcranial direct current stimulation (tDCS) for reducing symptoms of autism spectrum disorder (ASD). Method: Thirty‐six male children with ASD (mean age 2 years 3 months, SD 4 months, age range 1 years 6 months–2 years 11 months) were balanced and stratified by age, sex, and baseline severity of ASD, to: (1) a control group that received 20 sessions of sham tDCS; (2) a 5‐session tDCS group (5‐tDCS) that received 5 sessions of active tDCS followed by 15 sessions of sham tDCS; and (3) a 20‐session tDCS group (20‐tDCS) that received 20 sessions of active tDCS. All groups participated in the special school activity of Khon Kaen Special Education Center, Thailand. The primary outcome was autism severity as measured by the Childhood Autism Severity Scale. Results: The 5‐tDCS and 20‐tDCS groups evidenced greater reductions in autism severity than the control group at days 5 and 14, and months 6 and 12. There were no significant differences in the outcome between the 5‐ and 20‐tDCS groups at any time point. Within‐group analysis showed clinically meaningful improvements starting at month 6 for the participants in the control group, and clinically meaningful improvements starting on day 5 in both active tDCS groups, all of which were maintained to month 12. Interpretation: The 5‐ and 20‐session tDCS seems to reduce autism severity faster than sham tDCS. These effects maintained at least for 1 year. What this paper adds: Twenty sessions of transcranial direct current stimulation (tDCS) were not superior to five sessions.Sham tDCS with a special school activity can reduce autism severity starting at 6 months after treatment.The benefits observed for 5 and 20 sessions of tDCS last for at least 12 months. What this paper adds: Twenty sessions of transcranial direct current stimulation (tDCS) were not superior to five sessions.Sham tDCS with a special school activity can reduce autism severity starting at 6 months after treatment.The benefits observed for 5 and 20 sessions of tDCS last for at least 12 months. This original article is commented on by Wilson on pages 730–731 of this issue. [ABSTRACT FROM AUTHOR]

Aim: To test the efficacy of an integrated microfinance/livelihood and community‐based rehabilitation (IMCBR) programme in improving health‐related quality of life (HRQoL) and motor function of children with cerebral palsy (CP) and gain in social capital to their ultra‐poor families in rural Bangladesh. Method: This was an open‐label cluster randomized control trial. Children with CP aged 5 years or under were randomly allocated to three arms; Arm A: IMCBR; Arm B: community‐based rehabilitation (CBR); and Arm C: care‐as‐usual. The CBR was modified with phone follow‐up followed by home‐based CBR at 2.5 months post‐enrolment because of the COVID‐19 pandemic. Intention‐to‐treat analysis was performed. Results: Twenty‐four clusters constituting 251 children–primary caregivers' dyads were assigned to three arms (Arm A = 80; Arm B = 82; Arm C = 89). Between baseline and endline, the percentage mean change in the physical functioning domain of HRQoL was highest in Arm A (30.0%) with a significant mean difference between Arm A and Arm B (p = 0.015). Improvement in the mean social capital score was significantly higher in Arm A compared to Arm C (p < 0.001). Interpretation: The findings suggest that IMCBR could improve the HRQoL of children with CP and the social capital of their ultra‐poor families. Long‐term follow‐up of the trial participants and future exploration of such interventions are essential. The integrated livelihood and CBR programme holds potential to improve health and well‐being of children with CP and their ultra‐poor families. What this paper adds: Half of the families who received livelihoods were impacted by a cold‐wave, suggesting the need for a more disaster‐resilient livelihood asset.The integration of livelihood with community‐based rehabilitation programme helps to improve health‐related quality of life of children with cerebral palsy and the social capital of their ultra‐poor families. What this paper adds: Half of the families who received livelihoods were impacted by a cold‐wave, suggesting the need for a more disaster‐resilient livelihood asset.The integration of livelihood with community‐based rehabilitation programme helps to improve health‐related quality of life of children with cerebral palsy and the social capital of their ultra‐poor families. This original article is commented on by Fianto on pages 727–728 of this issue. [ABSTRACT FROM AUTHOR]

Aim: Neurodevelopment is a key outcome for many childhood trials and observational studies. Clinically important decisions may rest on finding relatively small differences in neurodevelopment between groups receiving complex and costly interventions. Our purpose was to determine whether studies which measure neurodevelopment report the numbers, training, and auditing of assessors and, for multiple assessor studies, whether the results were adjusted and if so by which method?Method: Electronic searches were conducted using Medline, Embase, Cinahl, PsycINFO, and the Cochrane Library. A study was eligible if it reported neurodevelopmental outcome in children resident in the UK, less than or equal to 18 years and was published between 2000 and 2015. Trials and observational studies were included.Results: Three hundred and seven full papers were reviewed: 52% of papers did not report the number of assessors used; 21% used a single assessor; and 27% used multiple assessors. Thirty-five per cent mentioned that assessors were trained in the use of the neurodevelopmental tool; 13% of assessors were audited; and only 1% of studies adjusted statistically for the number of assessors.Interpretation: At the very least, the quality of reporting the use of assessors in these research publications is poor, while at worst, the variability of assessors may mask the true relationship between an intervention/observation and neurodevelopmental outcome. [ABSTRACT FROM AUTHOR]

Sunflower syndrome is a rare photosensitive epilepsy which has received little attention in recent medical literature. The historical cases documenting the epilepsy's stereotyped handwaving motion in front of light characterized the behavior as self‐inducing seizures via mimic of stroboscopic effect. However, the relationship between handwaving episodes and attendant generalized electroencephalogram abnormalities, and an appreciation of the compulsive attraction the sun and other light sources hold for these patients, suggest the handwaving motion may be a part of the seizure rather than a mechanism of self‐induction. The lack of awareness of Sunflower syndrome often leads to misdiagnosis. The seizures are often refractory to traditional anticonvulsant medication, and patients resort to behavioral intervention, such as hats and sunglasses, to reduce handwaving episodes. Further study is required to determine the syndrome's natural history and to identify more effective treatment options. What this paper adds: Sunflower syndrome is a rare condition that is often misdiagnosed.Awareness of the clinical and electroencephalogram characteristics of Sunflower syndromemay reduce the prevalence of misdiagnosis. What this paper adds: Sunflower syndrome is a rare condition that is often misdiagnosed.Awareness of the clinical and electroencephalogram characteristics of Sunflower syndromemay reduce the prevalence of misdiagnosis. [ABSTRACT FROM AUTHOR]

Aim: To describe the standardized neurodevelopmental outcomes after the first year of life in children with congenital Zika syndrome (CZS) and those exposed to Zika virus (ZIKV) during fetal life, but without microcephaly at birth. Method: This scoping review included observational studies about the standardized neurodevelopmental outcome in children with CZS or exposed to ZIKV, but without microcephaly, assessed after 12 months of age. The databases searched were MEDLINE/Pubmed, LILACS, Scielo, Scopus, PsycINFO, CINAHL, and Embase. Risk of bias was assessed with the Joanna Briggs Institute Critical Appraisal Checklists. Results: Seventeen papers were included: 12 focused on children with CZS, four on children born without microcephaly, and one described both. Only one of the studies about CZS reported a child with microcephaly and typical development; the remainder described a severe pattern of global developmental delay and cerebral palsy. The prevalence of epilepsy was 74.6%. In the reports about children born without microcephaly, 6.9% to 8.7% had some domain with a score below −2 SD, and three children developed autism spectrum disorder. Interpretation: CZS is associated with severe global developmental delay and cerebral palsy after 1 year of age. In children born without microcephaly, although most have typical development, some may be at risk for impairments. [ABSTRACT FROM AUTHOR]

Aim: To study long‐term clinical and cognitive outcomes of patients with anti‐N‐methyl‐d‐aspartate receptor encephalitis (NMDAR‐E), an acute autoimmune neurological disease with severe acute presentations. Method: In this French multicentre retrospective observational cohort study, patients no older than 18 years with a follow‐up of at least 2 years were included. Data from clinical and cognitive assessments were collected. Results: Eighty‐one patients were included (57 females, 24 males; median age 10 years 7 months [range 1–18 years], median follow‐up 40 months [range 25–53 months]). At last follow‐up, 35 patients (45%) had cognitive impairment, 48 (70%) had academic difficulties, and 65 (92%) needed rehabilitation. Seventy‐one patients (88%) had a modified Rankin Scale score of no more than 2. A higher number of symptoms at diagnosis was associated with cognitive impairment (p = 0.01), while an abnormal electroencephalogram at diagnosis increased the risk of academic difficulties (p = 0.03). Interpretation: Although most children with NMDAR‐E seemed to recover from motor disabilities, more than 45% had cognitive and academic difficulties. The initial severity of symptoms seems to have an impact on cognition and academic performances. What this paper adds: Forty‐five per cent of patients had cognitive impairment at ≥2 years diagnosis of anti‐N‐methyl‐d‐aspartate receptor encephalitis (NMDAR‐E).Seventy per cent of patients had academic difficulties at ≥2 years diagnosis of NMDAR‐E.Ninety‐two per cent of patients needed rehabilitative care at ≥2 years diagnosis of NMDAR‐E.A high number of symptoms at diagnosis were associated with cognitive impairment. What this paper adds: Forty‐five per cent of patients had cognitive impairment at ≥2 years diagnosis of anti‐N‐methyl‐d‐aspartate receptor encephalitis (NMDAR‐E).Seventy per cent of patients had academic difficulties at ≥2 years diagnosis of NMDAR‐E.Ninety‐two per cent of patients needed rehabilitative care at ≥2 years diagnosis of NMDAR‐E.A high number of symptoms at diagnosis were associated with cognitive impairment. [ABSTRACT FROM AUTHOR]

Aim: To summarize the literature on the prevalence of pediatric hearing loss in low‐ and middle‐income countries (LMICs). Method: A systematic review initially identified 2833 studies, of which 122 met the criteria for inclusion. Eighty‐six of those studies included diagnoses and were included in a meta‐analysis. Results: The meta‐analysis indicated a 1% (95% confidence interval = 0.8–2.0) prevalence of childhood hearing loss across LMICs. There was significant heterogeneity between studies and evidence of publication bias. The prevalence of mild and moderate cases of hearing loss was higher than more severe cases and there were fewer cases of mixed hearing loss compared to conductive or sensorineural hearing loss. No differences were identified between the prevalence of unilateral versus bilateral hearing loss or hearing loss according to sex. The quality of the studies, age of participants, and location of data collection may have influenced the results. High variability in the reporting of etiology made the causes of hearing loss unclear. Interpretation: The literature indicates that 1% of children in LMICs have hearing losses. However, most studies missed children with acquired hearing loss, which may lead to under‐reporting of global prevalence. This systematic review is an initial step toward developing and implementing population‐appropriate treatment and prevention programs for childhood hearing loss in LMICs. What this paper adds: The prevalence of childhood hearing loss in low‐ and middle‐income countries is 1%.Reporting of hearing loss etiology was highly variable. [ABSTRACT FROM AUTHOR]

Aim: To describe the development of social function in children with cerebral palsy (CP) classified in all levels of the Communication Function Classification System (CFCS). Method: This prospective, longitudinal population‐based cohort study recruited children with CP born in Queensland, Australia. Social functioning was measured using the Pediatric Evaluation of Disability Inventory (PEDI) social function domain at 2 years, 2 years 6 months, 3 years, 4 years, and 5 years, and the PEDI Computer Adaptive Test (PEDI‐CAT) social/cognitive domain at 8 to 12 years. Results: Seventy‐four children provided 356 observations. PEDI‐CAT social/cognitive scaled scores at 8 to 12 years were (mean [SD] n) CFCS level I, 68.6 (2.7) 45; CFCS level II, 64.0 (3.4) 10; CFCS level III, 63.5 (3.7) 4; CFCS level IV, 56.8 (5.0) 9; CFCS level V, 47.2 (5.8) 6. Scores within expected range for age (not less than 2 SD below mean) at 8 to 12 years were achieved by 35 (78%) children in CFCS level I and four (14%) in CFCS levels II to V. Forty‐nine per cent of children scored at least two standard deviations below the population mean on a proxy measure of fluid intelligence. Intellectual impairment was associated with lower PEDI‐CAT social/cognitive scaled scores in univariable analysis (β = −8.3, 95% confidence interval − 10.91 to −5.63; p < 0.001) but had a smaller effect when modelled together with CFCS. Interpretation: Social function attained by 8 to 12 years of age was strongly related to level of communication function (CFCS). The small number of children classified in CFCS levels II to V necessitates caution when viewing these individual CFCS level trajectories. What this paper adds: There is a strong relation between social functioning and Communication Function Classification System (CFCS) levels.At 8 to 12 years, 35 out of 45 children in CFCS level I met social functioning age expectations.Twenty‐five out of 29 in CFCS levels II to V had social functioning below that expected for age.CFCS and age were more strongly associated with development of social functioning than Gross Motor Function Classification System or Manual Ability Classification System and age. What this paper adds: There is a strong relation between social functioning and Communication Function Classification System (CFCS) levels.At 8 to 12 years, 35 out of 45 children in CFCS level I met social functioning age expectations.Twenty‐five out of 29 in CFCS levels II to V had social functioning below that expected for age.CFCS and age were more strongly associated with development of social functioning than Gross Motor Function Classification System or Manual Ability Classification System and age. This original article is commented on by Eslinger on pages 596–597 of this issue. [ABSTRACT FROM AUTHOR]

Aim: To explore the phenotypic spectrum and refine the genotype–phenotype correlation of DYNC1H1‐related epilepsy. Method: The clinical data of 15 patients with epilepsy in our cohort and 50 patients with epilepsy from 24 published studies with the DYNC1H1 variants were evaluated. Results: In our cohort, 13 variants were identified from 15 patients (seven males, eight females). Twelve variants were de novo and seven were new. Age at seizure onset ranged from 3 months to 4 years 5 months (median age 1 year). Common seizure types were epileptic spasms, focal seizures, tonic seizures, and myoclonic seizures. Mild‐to‐severe developmental delay was present in all patients. Six patients were diagnosed with West syndrome and one was diagnosed with epileptic encephalopathy with continuous spikes and waves during slow sleep (CSWS). Collectively, in our cohort and published studies, 17% had ophthalmic diseases, 31% of variants were located in the stalk domain, and 92% patients with epilepsy had a malformation of cortical development (MCD). Interpretation: The phenotypes of DYNC1H1‐related epilepsy included multiple seizure types; the most common epileptic syndrome was West syndrome. CSWS is a new phenotype of DYNC1H1‐related epilepsy. One‐third of the variants in patients with epilepsy were located in the stalk domain. Most patients had a MCD and developmental delay. What this paper adds: Nearly 40% of patients with DYNC1H1 variants had epilepsy.Ninety‐two percent of patients with DYNC1H1‐related epilepsy had malformation of cortical development.More than 10% of patients with DYNC1H1‐related epilepsy were diagnosed with West syndrome.Continuous spikes and waves during slow sleep could be a new phenotype of DYNC1H1 variants.One‐third of the variants in patients with epilepsy were located in the stalk domain. What this paper adds: Nearly 40% of patients with DYNC1H1 variants had epilepsy.Ninety‐two percent of patients with DYNC1H1‐related epilepsy had malformation of cortical development.More than 10% of patients with DYNC1H1‐related epilepsy were diagnosed with West syndrome.Continuous spikes and waves during slow sleep could be a new phenotype of DYNC1H1 variants.One‐third of the variants in patients with epilepsy were located in the stalk domain. [ABSTRACT FROM AUTHOR]

In the last decade, there has been a dramatic increase in the number of families resorting to internet‐based public appeals to fund access to novel, highly expensive, or experimental therapies for rare disorders. Medical crowdfunding may provide a means to fund treatments or interventions, but it raises individual and societal ethical questions. In this review, we consider the ethical challenges crowdfunding poses in paediatric neurology, drawing on the example of gene therapy for spinal muscular atrophy. We discuss physician responsibilities, and how neurologists should respond to crowdfunding that they encounter in clinical practice. We also briefly consider actions that can be taken by clinicians, charities, and crowdfunding websites to reduce harms. The best way to mitigate these harms may be to target the high costs and restrictive criteria that limit access to many novel treatments, and to optimize treatment utility, for instance by newborn screening. What this paper adds: Crowdfunding is a social phenomenon arising from families' inability to access desired treatment.Treatments sought by crowdfunding range from those that are clearly beneficial (but unaffordable) to those that would be ineffective and potentially harmful.Crowdfunding carries a range of harms and risks to families and children and has wider social impact. What this paper adds: Crowdfunding is a social phenomenon arising from families' inability to access desired treatment.Treatments sought by crowdfunding range from those that are clearly beneficial (but unaffordable) to those that would be ineffective and potentially harmful.Crowdfunding carries a range of harms and risks to families and children and has wider social impact. [ABSTRACT FROM AUTHOR]

Aim: To validate a novel equation to estimate weight from mid‐upper arm circumference (MUAC) among children with cerebral palsy (CP) in rural Bangladesh. Method: Children with CP aged 2 to 18 years registered in the Bangladesh CP Register were randomly selected. Data on sociodemographics, Gross Motor Function Classification System level, and anthropometric measurements were extracted. Bland–Altman plots with a 95% agreement limit and Lin's concordance correlation coefficient with 95% confidence intervals (CI) were reported to measure agreement between observed and estimated weight. Percentage error was used to determinate the method's accuracy. Results: There were 497 participants with a mean age at assessment of 9 years (SD 4 years 11 months) (47.7% female). Lin's concordance correlation coefficient between the observed and estimated weights was 0.90 (95% CI 0.89–0.92). Bland–Altman plots showed a reasonable accuracy of the equation in the study cohort. The mean percentage error of the equation was 5.04%. The average difference between observed and estimated weights was −1.02 kg (SD 5.1). The differences between observed and estimated weights were significantly greater among children with weight‐for‐age, height‐for‐age, or BMI‐for‐age z‐scores less than or equal to −4. Interpretation: It is possible to predict the weight of children with CP from MUAC with sufficient accuracy. The equation can be used for populations in low‐resources and low‐ and middle‐income countries. What this paper adds: The equations predict the weight of children with cerebral palsy from their mid‐upper arm circumference reasonably accurately.The difference between observed and estimated weights ranged between 0 kg and ± 5 kg in 81.5% of children.Sex and Gross Motor Function Classification System level did not affect the accuracy of the equations.The equations were less accurate for estimating the weight of severely undernourished children. What this paper adds: The equations predict the weight of children with cerebral palsy from their mid‐upper arm circumference reasonably accurately.The difference between observed and estimated weights ranged between 0 kg and ± 5 kg in 81.5% of children.Sex and Gross Motor Function Classification System level did not affect the accuracy of the equations.The equations were less accurate for estimating the weight of severely undernourished children. [ABSTRACT FROM AUTHOR]

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