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Aim: To describe the trajectory of clinical signs in children who developed human immunodeficiency virus encephalopathy (HIVE) after starting early antiretroviral therapy (ART).Method: This was a retrospective case-cohort description of HIVE among Cape Town participants from the Children with HIV Early AntiRetroviral treatment (CHER) trial. Criteria for HIVE diagnosis were at least two of: (1) acquired central motor deficit, (2) impaired brain growth, and (3) failure to attain or loss of developmental milestones in the absence of an alternative aetiology.Results: Of 133 surviving participants who initiated ART at a median age of 9 weeks and who were followed until a median age of 6 years, 20 (12%) developed HIVE at a median age 31 months (interquartile range 19-37). In these, the first neurological deterioration was noticed at a median age of 19 months, when 16 were on ART and nine had undetectable HIV viral load for a median of 12 months. Signs of upper motor neurons were present in 18, of whom 12 resolved and four had persistent spastic diplegia; 19 had motor delay, of whom 14 resolved; 12 had language delay, of whom 11 resolved; and 16 had impaired brain growth, of whom only five recovered. For the 16 participants already on ART at HIVE diagnosis, regimens were not altered in response to diagnosis.Interpretation: HIVE may occur despite early ART initiation and virological suppression and then resolve on unchanged ART, most likely as intrathecal inflammation subsides.What This Paper Adds: Despite suppressive antiretroviral therapy, children can develop human immunodeficiency virus encephalopathy, The most common manifestations are motor deficits and impaired brain growth. Most experience improvement, with many resolving without additional intervention. [ABSTRACT FROM AUTHOR]

Aim: To describe trends in gastrostomy tube insertion in children with developmental or acquired disorders in Sweden and assess their demographic characteristics.Method: Children aged 0 to 18 years with gastrostomy tube insertions recorded between 1998 and 2014 were identified in the Swedish National Patient Register. Associations between disorder type and year of surgery, as well as age at surgery, were analysed using linear regression analyses. The association between disorder type and mortality 2 years from gastrostomy tube insertion was also analysed using logistic regression analysis.Results: The data for 4112 children (2182 males, 1930 females), with a median age of 2 years (interquartile range=1-8y), were analysed. Children who presented with developmental disorders were the largest group (n=3501, 85%). The most common diagnosis in children with developmental disorders was cerebral palsy (n=165, 4%). In children with acquired disorders, acute lymphoblastic leukaemia (n=117, 3%) was the most common diagnosis. Gastrostomy tube insertions increased from 1998 to 2014, with the greatest increase in children with developmental disorders, who were younger than children with acquired disorders when the gastrostomy tube was first inserted. Age at tube insertion decreased in both groups during the study period. Mortality was higher in children with acquired disorders, suggesting that gastrostomy tube insertion should be part of a palliative care approach.Interpretation: Child characteristics differed depending on whether the underlying disorder was developmental or acquired, suggesting a need for clinical health care guidelines related to the specific goals of gastrostomy tube insertion.What This Paper Adds: Gastrostomy tube insertions increased by 140% from 1998 to 2014 in Sweden. The age of children with developmental disorders decreased by 1 month per year during the study period. Children presenting with developmental disorders were younger than children with acquired disorders when the gastrostomy tube was first inserted. Mortality was higher in children with acquired disorders. [ABSTRACT FROM AUTHOR]

Aim: To investigate the underlying factor structure of the 46-item Flemish cerebral visual impairment (CVI) questionnaire, differentiate the factor scores of children with and without CVI, and examine the impact of comorbidities on factor scores.Method: The records of 630 children (386 males, 244 females; median age 77mo; interquartile range 63-98mo) who visited the CVI clinic and the Centre for Developmental Disabilities at the University Hospitals of Leuven from 2001 to 2018 were reviewed systematically. Inclusion criteria included an up-to-date questionnaire, a definitive diagnosis, and clinical assessment.Results: Three hundred and forty-five children (179 with CVI [108 males, 71 females; median age 74mo; interquartile range 61-93mo] and 166 without CVI [110 males, 56 females; median age 88mo; interquartile range 70-107mo]) were included. An exploratory factor analysis resulted in a 5-factor (object and face processing impairments; visual (dis)interest; clutter and distance viewing impairments; moving in space impairments; and anxiety-related behaviours) biologically and clinically plausible model, which retained 35 items and explained 56% of the total variance. Mann-Whitney U tests indicated that factors 1 to 4 were significantly higher in children with CVI compared to children without CVI (p-values ranged from p<0.001 to p<0.05; effect sizes ranged from 0.11 to 0.33); factor 5 showed no differences. Autism, developmental coordination disorder, epilepsy, and cerebral palsy impacted factor scores.Interpretation: A 5-factor structure of the Flemish CVI questionnaire differentiates children with and without CVI. Comorbidities should be accounted for when researching CVI.What This Paper Adds: Cerebral visual impairment (CVI) is characterized by impaired object and face processing and impaired visual interest. CVI is also characterized by impaired clutter and distance viewing, and impaired moving in space. All children (with or without CVI) demonstrated anxiety-related behaviours. Autism affected object/face processing, whereas developmental coordination disorder, epilepsy, and cerebral palsy affected visual interest. [ABSTRACT FROM AUTHOR]

Aim: To determine whether, and how, neonatal intensive care unit (NICU) parents want to receive early neurodevelopmental screening information about their child's future risk of cerebral palsy and other disabilities.Method: This was a qualitative interview study. Parents of hospitalized infants born preterm completed semi-structured interviews. Data were analysed using a directed content analysis approach.Results: Thematic saturation was achieved after 19 interviews. Four themes characterized parent perceptions of early neurodevelopmental screening: (1) acceptability: most parents were in favour of neurodevelopmental screening if parents could refuse; (2) disclosure of results: parents want emotional preparation for results, especially false positives; (3) emotional burden of uncertainty: parents of children in the NICU balance taking their infant's illness 'day by day' and preparing for an uncertain future. Parents expressed distress with screening that increased uncertainty about the future; and (4) disability: prior experience with disability informs parent concerns.Interpretation: Parents interpret the risks and benefits of NICU developmental screening through the lens of prior experiences with disability. Most expressed interest in screening and emphasized a desire for autonomy, pretest counselling, and emotional preparation.What This Paper Adds: Most parents with infants in the neonatal intensive care unit expressed interest in early screening for developmental disability. Prior experience with disability informed concerns about specific deficits. Parents emphasized a desire for autonomy, pretest counselling, and emotional preparation. [ABSTRACT FROM AUTHOR]

Aim: To compare hospital admission patterns after the first year of life in Australian children with developmental disabilities and children with no known disability, according to maternal country of birth and Indigenous status.Method: This was a retrospective cohort study using linked data across health, disability, and hospital admission databases. The study investigated 656 174 children born in Western Australia between 1983 and 2008 with a total of 1 091 834 records of hospital admissions.Results: Children with no known disability born to Indigenous mothers had the highest rate of hospital admissions compared to children of non-Indigenous mothers. Children of foreign-born mothers from low-income countries had the highest rate of hospital admissions if disability was present. Children with cerebral palsy (CP) with or without associated intellectual disability had the highest rate of hospital admissions among children with developmental disability, especially if mothers were foreign-born.Interpretation: Children with CP and intellectual disability, particularly from minority backgrounds (Indigenous Australian and foreign-born mothers), were at higher risk of being admitted to hospital after the first year of life.What This Paper Adds: Hospital admissions in Australian children with and without disabilities differ according to maternal country of birth. Hospital admission rates in children without a developmental disability were greatest for Australian-born Indigenous children. Disabled Australian-born children of foreign-born mothers from low-income countries had the highest hospital admission rates. Hospital admission risk was greatest for Australian-born children with cerebral palsy, especially if mothers were foreign-born. [ABSTRACT FROM AUTHOR]

Aim: This study examined children's health care service use, mothers' workforce participation, and mothers' community engagement based on children's risk of developmental delay.Method: We used data from the All Our Families study, a prospective pregnancy cohort. Ages and Stages Questionnaire (ASQ) scores at year 2 indicated risk of developmental delay. To investigate the impact of risk of developmental delay when children were not diagnosed, a sensitivity analysis excluded reports of neurodevelopmental disorder (NDD) diagnosis at year 3. Outcomes were maternal reports of children's health and allied health visits (and estimated costs), and maternal workforce participation and community engagement from year 2 to 3.Results: Among 1314 mother-child dyads, 209 (16%) children were classified as being at risk of developmental delay by the ASQ, and 42 (3%) had a reported diagnosis of NDD. Risk of developmental delay was related to increased use of allied health care services (incidence risk ratio 5.04 [year 3]; 95% confidence interval 2.49-10.2) and health visits (incidence risk ratio 1.33 [year 3]; 95% confidence interval 1.14-1.54). The average expected allied health costs were greater for children at risk versus not at risk of developmental delay. However, when excluding children with reported diagnoses of an NDD from this analysis, increased service use and costs in the remaining at-risk population were not observed. Community engagement and workplace participation among families did not differ on the basis of risk of developmental delay.Interpretation: These results suggest increased health care service use by families of children at risk of developmental delay is driven by those receiving a diagnosis of an NDD in the subsequent year.What This Paper Adds: Early developmental delay risk was related to health care service use and costs. Diagnosis of neurodevelopmental disorder drove increased health care service use and costs. Early developmental delay risk did not relate to parental workforce participation. Early developmental delay risk did not relate to community engagement participation. [ABSTRACT FROM AUTHOR]

Aim: To determine development curves of communication and social interaction from childhood into adulthood for individuals with cerebral palsy (CP).Method: This Pediatric Rehabilitation Research in the Netherlands (PERRIN)-DECADE study longitudinally assessed 421 individuals with CP, aged from 1 to 20 years at baseline, after 13 years (n=121 at follow-up). Communication and social interactions were assessed using the Vineland Adaptive Behavior Scales. We estimated the average maximum performance limit (level) and age at which 90% of the limit was reached (age90 ) using nonlinear mixed-effects modeling.Results: One-hundred individuals without intellectual disability were aged 21 to 34 years at follow-up (39 females, 61 males) (mean age [SD] 28y 5mo [3y 11mo]). Limits of individuals without intellectual disability, regardless of Gross Motor Function Classification System (GMFCS) level, approached the maximum score and were significantly higher than those of individuals with intellectual disability. Ages90 ranged between 3 and 4 years for receptive communication, 6 and 7 years for expressive communication and interrelationships, 12 and 16 years for written communication, 13 and 16 years for play and leisure, and 14 and 16 years for coping. Twenty-one individuals with intellectual disability were between 21 and 27 years at follow-up (8 females, 13 males) (mean age [SD] 24y 7mo [1y 8mo]). Individuals with intellectual disability in GMFCS level V showed the least favourable development, but variation between individuals with intellectual disability was large.Interpretation: Individuals with CP and without intellectual disability show developmental curves of communication and social interactions similar to typically developing individuals, regardless of their level of motor function. Those with intellectual disability reach lower performance levels and vary largely in individual development.What This Paper Adds: Communication and social interactions in individuals with cerebral palsy without intellectual disability develop similarly to typically developing individuals. Communication and social interactions of individuals with intellectual disability develop less favourably and show large variation. [ABSTRACT FROM AUTHOR]

Aim: To describe the baseline developmental profile and influence of clinical and demographic factors on the developmental skills of infants diagnosed with infantile spasms.Method: Ninety-five infants (55 males, 40 females) newly diagnosed with infantile spasms were recruited for a cross-sectional, longitudinal study. All infants underwent Bayley Scales of Infant and Toddler Development assessments in the cognitive, receptive communication, expressive communication, and fine and gross motor developmental domains; they also underwent visual, auditory, and social behaviour assessments. Infants were categorized as 'early' (<6mo) or 'late' (≥6mo) presenters; if presented within 28 days, this was considered as 'early presentation', whereas a delay greater than 28 days was considered as a 'delay in presentation'. Antenatal, perinatal, and postnatal risk factors were identified.Results: Over 90% of infants showed impairment in all domains, with the majority having severe delay; 99% showed cognitive impairment. Delayed presentation was significantly associated with receptive communication delay (odds ratio [OR]=5.35; 95% confidence interval [CI]=1.05-27.32). Onset at 6 months or less influenced auditory (OR=2.8; 95% CI=1.16-6.8) and visual (OR=3.03; 95% CI=1.22-7.57) behaviours. Neonatal infections impacted both receptive (OR=1.12; 95% CI=1.04-1.2) and expressive communication (OR=1.08; 95% CI=1.02-1.14) delay. Neonatal seizures significantly influenced visual, auditory, and social impairments. Expressive communication and gross motor development shared common perinatal risk factors.Interpretation: Adverse developmental status at presentation, associated with delayed presentation and neonatal risk factors should alert clinicians to the surveillance of at-risk infants and seek out timely interventions.What This Paper Adds: Ninety per cent of infants showed impaired cognitive, communication, and motor skills at presentation. Visual, auditory, and social behaviour impairments were significantly associated with perinatal risks. Visual, auditory, and social behaviour impairments were significantly associated with neonatal seizures. [ABSTRACT FROM AUTHOR]

Aim: The aim of this study was to investigate the longitudinal development of passive range of motion (ROM) in the upper limbs in a population-based sample of children with cerebral palsy (CP), and to investigate which children are more likely to develop contractures related to functional level, CP subtype, and age.Method: Registry data of annual passive ROM measurements of the upper limbs from 771 children with CP (417 males, 354 females; mean age 11y 8mo, [SD 5mo] range 1-18y) were analysed. Mixed models were used to investigate at what age decreased passive ROM occurs. Odds ratios were calculated to compare risks and logistic regression analysis was used to predict contracture development.Results: Thirty-four per cent of the children had developed contractures. Among these children, decreased passive ROM was significant at a mean age of 4 years for wrist extension and 7 years for shoulder flexion, elbow extension, and supination. Children at Manual Ability Classification System (MACS) level V had a 17-times greater risk of contractures than children at MACS level I.Interpretation: One-third of the children in the total population developed upper-limb contractures while passive ROM decreased with age. MACS level was the strongest predictor of contracture development.What This Paper Adds: In a population-based sample of 771 children with cerebral palsy, 34% developed an upper-limb contracture. Contracture development started at preschool age. The first affected movements were wrist extension and supination. Passive range of motion decreased with age. High Manual Ability Classification System level was the most important predictor of contractures. [ABSTRACT FROM AUTHOR]

Aim: To investigate trends in birth prevalence of cerebral palsy (CP) overall and by gestational age, and examine the distribution of motor type, spastic topography, and severity using Australian CP Register data from 1995 to 2009.Method: Prenatal and perinatal CP data were collated from state/territory CP registers. Birth prevalence estimates per 1000 live births and per 1000 neonatal survivors (NNS) were calculated in five epochs. Data from three state registers with population-level ascertainment were used to investigate birth prevalence trends by gestational age using Poisson regression. Distribution of motor type, spastic topography, and moderate to severe disability (IQ≤50 and/or Gross Motor Function Classification System levels III-V) were evaluated within birthweight categories.Results: Birth prevalence of CP varied across population-level states but within each state declined significantly over time (p<0.05). Birth prevalence per 1000 neonatal survivors declined amongst children born before 28 weeks (South Australia, Victoria p<0.001) and those born at or after 37 weeks (Victoria p<0.001, Western Australia p<0.002). Across Australia the percentage of children with bilateral spastic CP declined amongst those born less than 1000g. The percentage of children with moderate to severe disability decreased (48%-34%, p<0.001).Interpretation: Birth prevalence of CP declined. Encouragingly, the percentage of children with CP whose disability was moderate to severe also decreased.What This Paper Adds: Birth prevalence of cerebral palsy (CP) differed but declined across Australian states (1995-2009). Australian CP birth prevalence declined significantly amongst children born before 28 weeks and those born at or after 37 weeks. The percentage of children with moderate to severe disability decreased. [ABSTRACT FROM AUTHOR]

Aim: This case-control study examined the long-term consequences of surgical correction for ventricular septal defect (VSD; the most common congenital heart defect) in infancy. It assessed children who had undergone VSD surgery and the factors related to maternal conditions, surgery, and hospital stay.Method: Thirty-nine children (23 females, 16 males; age range 6y 1mo-9y 7mo [mean 7y 4mo, SD 1y]) with repaired isolated, non-syndromic, non-genetic VSD were compared with 39 typically developing children (22 females, 17 males; age range 6y-9y 2mo [mean 7y 3mo, SD 10mo]). The children completed behavioural tests of neurodevelopment and a quality of life (QoL) questionnaire. Mothers rated children's emotional/behavioural symptoms and QoL. Measures of maternal parenting behaviour and psychopathology were treated as moderators.Results: Affected children showed reduced language skills (p=0.002) unless mothers reported high parenting behaviour subscale scores (p=0.04). Children's anxiety symptoms were elevated when mothers had anxiety symptoms (p=0.01). Longer hospital stay was associated with lower intelligence (p=0.003) and psychomotor scores (p=0.006). Longer scars predicted elevated child anxiety (p=0.008), and age at surgery and QoL were inversely related (p=0.01).Interpretation: Impairments could be mitigated if VSD repair was performed early in life with a relatively small scar and uncomplicated hospital stay. This outcome depends on maternal parenting behaviour and anxiety symptoms.What This Paper Adds: Children's cognitive and psychomotor development after surgical ventricular septal defect repair was unimpaired. Children showed no mental health restrictions when their mothers reported few anxiety symptoms themselves. Language impairments might be preventable by pro-active parenting. The outcome also depends on variables related to surgery and hospital stay. [ABSTRACT FROM AUTHOR]

Aim: To evaluate neurodevelopmental difficulties in children with idiopathic clubfoot.Method: A cross-sectional study of 106 children (29 females, 77 males; aged 8-10y) with idiopathic clubfoot and 109 age-, sex-, and residential area-parallelized children from the general population. Neurodevelopmental difficulties were assessed using the parent-report Five to Fifteen (FTF) questionnaire. Group differences were analysed for FTF domains, subdomains, and items. The 90th centile cut-off of the general population on FTF and the parent-based disease-specific instrument (DSI) were used to evaluate clinical relevance of neurodevelopmental symptoms in idiopathic clubfoot.Results: Modest group differences were found for several FTF domains (motor skills, perception, and language) and subdomains (gross and fine motor skills, relation in space, comprehensive and expressive language skills). Thirty-one per cent of the children with idiopathic clubfoot scored in the clinically significant range on 2 or more FTF domains. DSI scores were lower in this subgroup.Interpretation: Findings indicate a moderate and selective increase of neurodevelopmental difficulties in children with idiopathic clubfoot as a whole, especially in the areas of motor skills, perception, and language. Idiopathic clubfoot with marked neurodevelopmental symptoms are associated with less satisfaction of the clubfoot treatment. Our results recommend awareness of neurodevelopmental difficulties in the assessment and treatment of idiopathic clubfoot.What This Paper Adds: A substantial minority of children with idiopathic clubfoot show neurodevelopmental difficulties. Children with idiopathic clubfoot might present additional difficulties in motor skills, perception, and language. Children with idiopathic clubfoot and marked neurodevelopmental symptoms show poorer parent-reported clubfoot treatment satisfaction. Neurodevelopmental difficulties should be considered in clinical practice of idiopathic clubfoot. [ABSTRACT FROM AUTHOR]

Aim: Gamma-aminobutyric acid (GABA) is a major modulator in brain maturation and its role in many different neurodevelopmental disorders has been widely reported. Although the involvement of GABA in different disorders has been related to its regulatory function as an inhibitory neurotransmitter in the mature brain, co-transmitter, and signalling molecule, little is known about its role as a clinical biomarker in neuropaediatric disorders. The aim of this study is to report the cerebrospinal fluid (CSF) free-GABA concentrations in a large cohort of patients (n=85) with different neurological disorders.Method: GABA was measured in the CSF of neuropaediatric patients using capillary electrophoresis with laser-induced fluorescence detection. Other neurotransmitters (amino acids and monoamines) were also analysed.Results: GABA concentrations in CSF were abnormal, with a greater frequency (44%) than monoamines (20%) in neuropaediatric patients compared with our reference values. Although we included a few patients with inborn errors of metabolism, GABA levels in CSF were more frequently abnormal in metabolic disorders than in other nosological groups.Interpretation: Our work suggests further research into brain GABAergic status in neuropaediatric disorders, which could also lead to new therapeutic strategies.What This Paper Adds: Homeostasis of GABA seems more vulnerable than that of monoamines in the developing brain. The highest GABA levels are found in the primary GABA neurotransmitter disorder SSADH deficiency. GABA alterations are not specific for any clinical or neuroimaging presentation. [ABSTRACT FROM AUTHOR]

Aim: Project TEAM (Teens making Environment and Activity Modifications) teaches transition-age young people with developmental disabilities, including those with co-occurring intellectual or cognitive disabilities, to identify and resolve environmental barriers to participation. We examined its effects on young people's attainment of participation goals, knowledge, problem-solving, self-determination, and self-efficacy.Method: We used a quasi-experimental, repeated measures design (initial, outcome, 6-week follow-up) with two groups: (1) Project TEAM (28 males, 19 females; mean age 17y 6mo); and (2) goal-setting comparison (21 males, 14 females; mean age 17y 6mo). A matched convenience sample was recruited in two US states. Attainment of participation goals and goal attainment scaling (GAS) T scores were compared at outcome. Differences between groups for all other outcomes were analyzed using linear mixed effects models.Results: At outcome, Project TEAM participants demonstrated greater knowledge (estimated mean difference: 1.82; confidence interval [CI]: 0.90, 2.74) and ability to apply knowledge during participation (GAS: t[75]=4.21; CI: 5.21, 14.57) compared to goal-setting. While both groups achieved significant improvements in knowledge, problem-solving, and self-determination, increases in parent reported self-determination remained at 6-week follow-up only for Project TEAM (estimated mean difference: 4.65; CI: 1.32, 7.98). Significantly more Project TEAM participants attained their participation goals by follow-up (Project TEAM=97.6%, goal-setting=77.1%, p=0.009).Interpretation: Both approaches support attainment of participation goals. Although inconclusive, Project TEAM may uniquely support young people with developmental disabilities to act in a self-determined manner and apply an environmental problem-solving approach over time.What This Paper Adds: Individualized goal-setting, alone or during Project TEAM (Teens making Environment and Activity Modifications) appears to support attainment of participation goals. Project TEAM appears to support young people with developmental disabilities to apply an environmental problem-solving approach to participation barriers. Parents of young people with developmental disabilities report sustained changes in self-determination 6 weeks after Project TEAM. [ABSTRACT FROM AUTHOR]

Aim: To study the prevalence of minor neurological dysfunction (MND) at 6 years of age in a cohort of children born extremely preterm without cerebral palsy (CP) and to investigate associations with motor function, cognitive abilities, and behaviour.Method: This study assessed 80 children born at less than 27 weeks of gestation and 90 children born at term age between 2004 and 2007 at a mean age of 6 years 6 months. The assessments included a simplified version of the Touwen Infant Neurological Examination, the Movement Assessment Battery for Children, Second Edition (MABC-2), Wechsler Intelligence Scale for Children, Fourth Edition (WISC-IV), the Strengths and Difficulties Questionnaire (SDQ), and the parent version of the Five to Fifteen questionnaire.Results: Fifty-one of the children born preterm had normal neurology, 23 had simple MND, and six had complex MND compared with 88 who had normal neurology and two simple MND in the term-born group (p<0.001). There were significant differences between the children with normal neurology and MND in the preterm group in MABC-2-assessed motor function (p<0.001), general cognitive abilities with WISC-IV (p=0.005), and SDQ overall behavioural problems and peer problems reported by the parents (p=0.021 and p=0.003 respectively). SDQ teacher-reported overall behavioural and hyperactivity problems were significantly different between children with normal and simple MND (p=0.036 and p=0.019).Interpretation: Children born extremely preterm, in the absence of CP, are at risk of MND and this is associated with motor function, cognitive ability, and behaviour.What This Paper Adds: Extremely preterm birth carries a risk of minor neurological dysfunction (MND). MND in children born extremely preterm is associated with impaired motor function and cognitive abilities, and behavioural problems. Male sex is associated with MND in children born extremely preterm. [ABSTRACT FROM AUTHOR]

Aim: This cross-sectional study aimed to examine the preliteracy abilities of young children with neurofibromatosis type 1 (NF1) and to identify which of these abilities best predicted conventional literacy (spelling).Method: Forty-two children with NF1 (23 males, 19 females; mean age [SD] 5y 6mo [6mo]) were compared with 32 unaffected children (15 males, 17 females; mean age [SD] 5y 4mo [6mo]). All children completed a comprehensive cognitive assessment including measures of phonological processing (phonological awareness, phonological memory, rapid automatic naming) and letter-sound knowledge.Results: Children with NF1 performed significantly poorer than the comparison group across all cognitive and preliteracy domains, with specific weaknesses evident in phonological awareness (F1,68 =14.13, p<0.001, partial η2 =0.17), phonological memory (F1,68 =13.87, p<0.001, partial η2 =0.17), and letter-sound knowledge (F1,71 =5.65, p=0.020, partial η2 =0.07). Within the group with NF1 group, over a third of children demonstrated impairment in at least one phonological processing domain and the risk of phonological impairment was 5.60 times that of unaffected children. Children's letter-sound knowledge was the strongest predictor of conventional literacy (spelling).Interpretation: This study establishes that preliteracy deficits are present and detectable in young children with NF1. As a result of the high incidence of preliteracy impairment, we recommend screening phonological awareness and letter-sound knowledge to identify risk of future learning disorders.What This Paper Adds: Young children with neurofibromatosis type 1 are at elevated risk of preliteracy deficits. The most affected domains are phonological awareness and phonological memory. Letter-sound knowledge is the strongest predictor of conventional literacy (spelling). [ABSTRACT FROM AUTHOR]

Aim: If increased muscle stiffness and contractures in children with cerebral palsy (CP) are related to impaired muscle growth, reduced muscle growth should precede or coincide with increased muscle stiffness during development. Here, we compared the volume of the medial gastrocnemius muscle and the passive (non-neural) stiffness of the triceps surae musculotendinous unit in typically developing children and children with CP from birth until 4 years of age.Method: Forty-one children with CP and 45 typically developing children were included. Freehand three-dimensional ultrasound was used to evaluate the volume of the medial gastrocnemius muscle. Biomechanical and electrophysiological measures were used to determine passive and reflex mediated stiffness of the triceps surae musculotendinous unit.Results: Medial gastrocnemius muscle volume increased with the same rate in typically developing and children with CP until 12 months of age, when a significant smaller rate of growth was observed in children with CP. Passive stiffness of the triceps surae musculotendinous unit showed a linear increase with age in typically developing children. Children with CP older than 27 months showed a significant increase in passive stiffness. Reflex mediated stiffness was only pathologically increased in four children with CP.Interpretation: The deviation of medial gastrocnemius muscle volume, earlier than musculotendinous unit stiffness, is consistent with the hypothesis. The data also point out that muscle atrophy and muscle stiffness already develops within the first 1 to 2 years. This emphasizes the necessity of early interventions to promote lower limb muscle growth in this population.What This Paper Adds: Medial gastrocnemius muscle growth is reduced in children with cerebral palsy (CP) around 12 months after birth. Triceps surae musculotendinous unit stiffness is increased in children with CP around 27 months after birth. Reflex excitability is rarely increased in children with CP. Reduced muscle growth may be involved in the pathophysiology of contractures. [ABSTRACT FROM AUTHOR]

Aim: Health-related quality of life (HRQoL) and peer relationships were investigated in adolescents with developmental coordination disorder (DCD) and attention-deficit-hyperactivity disorder (ADHD).Method: Adolescents with DCD (n=9), ADHD (n=9), DCD and ADHD (n=10), and typically developing adolescents (n=16) completed the following questionnaires: KIDSCREEN-52 Health-Related Quality of Life Questionnaire and Peer Relations Questionnaire for Children. Twenty-five participants took part in semi-structured interviews.Results: Adolescents with DCD and ADHD had lower HRQoL on the mood and emotions, school environment, and financial resources scales of the KIDSCREEN-52 than adolescents in the DCD and typically developing groups (all p<0.05). On the Peer Relations Questionnaire for Children, the DCD and ADHD group reported significantly higher victimization compared with those in the typically developing (p=0.030) and DCD (p=0.010) groups. Qualitative interviews among young people with DCD and ADHD revealed feelings of marginalization and victimization. Descriptors such as 'misfits', 'oddballs', 'weird', and 'the rejects' were used to describe themselves.Interpretation: HRQoL and peer relationships are negatively affected in adolescents with DCD and ADHD. WHAT THIS PAPER ADDS?: Children with developmental coordination disorder (DCD) do not display poorer overall health-related quality of life (HRQoL) versus typically developing controls. Having DCD and attention-deficit-hyperactivity disorder (ADHD) was associated with poorer HRQoL. Adolescents with DCD and ADHD experience significantly higher levels of peer victimization than typically developing adolescents. HRQoL and peer relationships are significantly associated in adolescent respondents. [ABSTRACT FROM AUTHOR]

Aim: This study examined the effectiveness of the Pathways and Resources for Engagement and Participation (PREP) intervention in improving the participation of adolescents in community-based activities.Method: Twenty-eight adolescents (14 males, 14 females), aged 12 to 18 years (mean 14y 6mo, SD 21.6mo) with moderate physical disabilities participated in a 12-week PREP intervention. An interrupted time series design with multiple baselines was employed, replicating the intervention effect across three chosen activities and all participants. An occupational therapist worked individually with adolescents and parents to identify and implement strategies to remove environmental barriers that impede participation in selected activities. Activity performance was repeatedly measured using the Canadian Occupational Performance Measure (COPM) at baseline, intervention, and follow-up (20wks). For each activity, the trajectory representing change in performance was analyzed descriptively. Segmented regression combined with a mixed-effects modeling approach was used to statistically estimate the overall effectiveness of the intervention within and across 79 activities.Results: A statistically significant improvement (B=2.08, p<0.001) was observed across all activities, 59 per cent of which also indicated a clinically significant change of more than 2 points on the COPM scale. Levels of performance were maintained during follow-up with an additional increase of 0.66 points on the COPM scale (t=3.04, p=0.004). Intervention was most effective for males and those with a higher number of functional issues.Interpretation: Findings illustrate that participation can be improved by changing the environment only. Such evidence further supports emerging therapeutic approaches that are activity-based, goal-oriented, and ecological in nature.What This Paper Adds: Environment-based intervention strategies, guided by the Pathways and Resources for Engagement and Participation, are effective in improving and maintaining adolescent participation. Intervention was most effective for males and those with a higher number of functional issues. The study design serves as an example for future pragmatic studies accounting for individual-based changes and contexts. [ABSTRACT FROM AUTHOR]

Aim: To explore the evolution of self-care and functional mobility after multilevel surgery in children and adolescents with spastic diplegic cerebral palsy and to identify factors affecting these outcomes.Method: Thirty-four participants (22 males, 12 females) were evaluated before surgery, and at 2 months, 6 months, 1 year, 18 months, and 2 years after surgery. Self-care was assessed with the Pediatric Evaluation of Disability Inventory Dutch edition. The Mobility Questionnaire47 (MobQues47) and Functional Mobility Scale (FMS) were used to measure functional mobility.Results: All outcomes revealed a significant decrease 2 months after single-event multilevel surgery (SEMLS) (p-value between <0.001 and 0.02) followed by a significant increase at 6 months (p<0.001 and p=0.045). Between 6 months and 1 year, a significant increase was also revealed for Mobques47 (p<0.001), FMS (p≤0.008), and the Pediatric Evaluation of Disability Inventory Functional Skills Scale (PEDI-FSS) (p=0.001). Improvement continued until 18 months for the PEDI-FSS. Initial score, initial muscle strength, Gross Motor Function Classification System level, age, and number of surgical interventions significantly influenced time trends for self-care and/or functional mobility.Interpretation: Most preoperative scores are regained at 6 months after SEMLS. Further improvement is seen until 18 months. Participants with a higher functional level before surgery will temporarily lose more than participants with lower initial functional ability, but they also fast regain their function.What This Paper Adds: Self-care and functional mobility decrease significantly in the first months after single-event multilevel surgery (SEMLS). Six months after SEMLS most preoperative scores are regained. Impact of SEMLS is more pronounced for functional mobility than for self-care. Muscle strength and functionality at baseline are important influencing factors on the evolution after SEMLS. [ABSTRACT FROM AUTHOR]

Aim: To describe the development of bimanual performance among young children with unilateral or bilateral cerebral palsy (CP).Method: A population-based sample of 102 children (53 males, 49 females), median age 28.5 months (interquartile range [IQR] 16mo) at first assessment and 47 months (IQR 18mo) at last assessment, was assessed half-yearly with the Assisting Hand Assessment (AHA) or the Both Hands Assessment (BoHA) for a total of 329 assessments. Developmental limits and rates were estimated by nonlinear mixed-effects models. Developmental trajectories were compared between levels of manual ability (Mini-Manual Ability Classification System [Mini-MACS] and MACS) and AHA or BoHA performance at 18 months of age (AHA-18/BoHA-18) for both CP subgroups, and additionally between children with bilateral CP with symmetric or asymmetric hand use.Results: For both CP subgroups, children classified in Mini-MACS/MACS level I, and those with high AHA-18 or BoHA-18 reached the highest limits of performance. For children with bilateral CP the developmental change was small, and children with symmetric hand use reached the highest limits.Interpretation: Mini-MACS/MACS levels and AHA-18 or BoHA-18 distinguished between various developmental trajectories both for children with unilateral and bilateral CP. Children with bilateral CP changed their performance to a smaller extent than children with unilateral CP.What This Paper Adds: Manual Ability Classification System levels and Assisting Hand Assessment/Both Hands Assessment performance at 18 months are important predictors of hand use development in cerebral palsy (CP). Children with bilateral CP improved less than those with unilateral CP. Children with bilateral CP and symmetric hand use reached higher limits than those with asymmetry. [ABSTRACT FROM AUTHOR]

Aim: To describe behavioural and psychiatric outcomes of children within 10 years of convulsive status epilepticus (CSE).Method: Children originally identified by the population-based North London Convulsive Status Epilepticus in Childhood Surveillance Study were followed-up between July 2009 and February 2013. They were grouped into epilepsy- and non-epilepsy-related CSE, and compared with population norms and healthy controls using the Strengths and Difficulties Questionnaire; the Autism Spectrum Screening Questionnaire; and the Swanson, Nolan, and Pelham questionnaire. Children who scored above recommended clinical cut-offs on any scale were invited for a neuropsychiatric assessment. Regression models were fitted to identify clinically relevant covariates associated with behavioural outcomes.Results: At a mean follow-up of 8.1 years post-CSE, 28% of enrolled children were found to have a psychiatric disorder. Children with epilepsy-related CSE scored higher than norms on all scales and children with non-epilepsy-related CSE scored higher than norms on the Strengths and Difficulties Questionnaire and the Autism Spectrum Screening Questionnaire. Presence of seizures at baseline and recurrence of CSE was associated with worse outcomes in the group with epilepsy. Intellectual abilities were associated with behavioural outcomes in all participants.Interpretation: A large proportion of children manifest behavioural issues 8 years after CSE. The present data highlight the need for behavioural screening in children with neurodevelopmental impairments post-CSE.What This Paper Adds: Eight years post convulsive status epilepticus (CSE), 37% of parents report behavioural issues. Of enrolled children, 28% were found to have a Diagnostic and Statistical Manual mental disorder. Intellectual abilities are strongly associated with behavioural outcomes in children post-CSE. [ABSTRACT FROM AUTHOR]

Aim: The aims of this study were twofold: first, to develop and validate a timed test of unimanual and bimanual dexterity suitable for those with disability affecting hand function; second, to explore relationships between unimanual and bimanual completion times.Method: We developed the Tyneside Pegboard Test (TPT), an electronically timed test with three peg sizes, incorporating an asymmetrical bimanual task. Nine hundred and seventy-four participants (455 males, 519 females; age range 4-80y) provided normative data. Test-retest reliability and construct validity were assessed (50 adults: 14 males, 36 females; 15-73y) on two occasions 2 weeks apart. Bimanual and unimanual completion times were measured in 87 children (51 males, 36 females) with unilateral cerebral palsy (CP) and 498 individuals in a comparison group (238 males, 260 females; 5-15y).Results: The comparison group showed an asymmetrical U-shaped relationship between completion times and age. Intraclass correlation coefficients ranged from 0.74 to 0.91, indicating moderate test-retest reliability. There was a negative relationship between average TPT bimanual times and Purdue pegboard bimanual scores (Spearman's rho -0.611, degrees of freedom 44, p<0.001). Children with unilateral CP had greater prolongation of bimanual than unimanual completion times compared with the comparison group (mean difference 20.31s, 95% confidence interval 18.13-22.49, p<0.001).Interpretation: The TPT is accessible for those with impaired hand function. Children with unilateral CP demonstrated disproportionate bimanual deficits, even allowing for unimanual dexterity: this has implications for therapy.What This Paper Adds: We developed an adapted, electronically timed 9-hole pegboard test. Our modifications facilitate use by those with disability affecting hand function. The test incorporates an asymmetrical bimanual task. Children with unilateral cerebral palsy showed disproportionate bimanual dexterity deficits even allowing for unimanual dexterity. [ABSTRACT FROM AUTHOR]

Aim: To examine the differential effects of an early intervention programme for infants born preterm on neurodevelopment and parental mental health according to family social risk.Method: One hundred and twenty infants born earlier than 30 weeks' gestation were randomized to early intervention (n=61) or control groups (n=59). Cognitive, language, and motor outcomes were assessed by blinded assessors at 2 years, 4 years, and 8 years, and primary caregivers completed questionnaires on their anxiety and depression. Outcomes at each time point were compared between groups using linear regression with an interaction term for social risk (higher/lower).Results: There was evidence of interactions between intervention group and social risk for cognition at 2 years and 4 years, motor function at 4 years, and language at 8 years, with a greater intervention effect in children from higher social risk environments. In contrast, the impact of early intervention on parental depressive symptoms was greater for parents of lower social risk than for those of higher social risk.Interpretation: Effects of early intervention on outcomes for children born preterm and their caregivers varied according to family social risk. Family social risk should be considered when implementing early intervention programmes for children born preterm and their families.What This Paper Adds: Intervention is associated with better early cognitive functioning for children in higher social risk families. Positive effects of intervention for the high risk group were not sustained at school-age. Intervention has a greater effect on primary caregiver mental health in the lower social risk group compared with higher social risk. [ABSTRACT FROM AUTHOR]

The aim of this report was to refine the genotypes and phenotypes of chromodomain helicase DNA-binding protein 2 (CHD2)-related epilepsy. Seventeen patients with CHD2 mutations were enrolled. CHD2 mutations were identified by application of next-generation sequencing of epilepsy or whole exome sequencing. Sixteen mutations were identified, among which 15 have not yet been reported. Thirteen mutations were de novo. Age at seizure onset ranged from 3 months to 10 years 5 months. Seizures observed were generalized tonic-clonic, myoclonic, atonic, atypical absence, focal, and myoclonic-atonic. Epileptic spasms occurred in two patients. Developmental disability was present in 14 patients. Autism features were observed in seven patients. Video electroencephalogram was abnormal in 15 patients. Five patients were diagnosed with non-specific epileptic encephalopathy, two with epilepsy with myoclonic-atonic seizures, two with Lennox-Gastaut syndrome, two with febrile seizures plus, and one with West syndrome. Seizures were controlled in nine patients. Q1392TfsX17 may be a hot-spot mutation of CHD2. West syndrome was observed as a new phenotype of CHD2 mutation. The severity of the phenotypes of CHD2 mutations ranged from mild febrile seizures to severe epileptic encephalopathy. WHAT THIS PAPER ADDS: Q1392TfsX17 maybe the hot-spot mutation of CHD2. West syndrome could be a new phenotype of CHD2 mutation. [ABSTRACT FROM AUTHOR]