SD 2y Research Articles

ICF mobility and self-care goals of children in inpatient rehabilitation.

To develop a detailed priority list of family-centred rehabilitation goals on the activity level within the International Classification of Functioning, Disability and Health (ICF) chapters d4 'Mobility' and d5 'Self-care' in a paediatric population with a broad range of health conditions. Twenty-two months after implementing a systematic, family-centred, goal-setting process, the rehabilitation goals of 212 inpatients were retrospectively allocated to the most detailed level of ICF categories by two independent researchers. The overall frequencies of these goals were calculated and stratified by health condition, functional independence, and age. Ninety-three females and 119 males were included in the study (mean age 10y 9mo, SD 4y 5mo, range 2y 1mo-21y 5mo). The five most frequent rehabilitation goals were ICF codes d4500 'Walking short distances' (11%), d4200 'Transferring oneself while sitting' (9%), d5400 'Putting on clothes' (7%), d451 'Going up and down stairs' (6%), and d4153 'Maintaining a sitting position' (5%). These top goals varied in the subgroups with regard to the underlying health condition, functional independence, and age. The findings of this study are not generalizable due to the large heterogeneity in priorities. However, they can be used to incorporate families' needs into future research designs and the development of new technologies. Walking short distances is the most frequent mobility/self-care goal of paediatric rehabilitation. The top goals depend on health condition, functional independence, and age. Priorities vary considerably between children undergoing rehabilitation. Rehabilitation goals need to be assessed individually for each child.

Brain magnetic resonance imaging is a predictor of bimanual performance and executive function in children with unilateral cerebral palsy.

To examine the association between brain magnetic resonance imaging (MRI) characteristics and executive function and bimanual performance in children with unilateral cerebral palsy (CP). Clinical MRI brain scans were classified as: (1) predominant pathological pattern (normal, white matter injury [WMI]; grey matter injury; focal vascular insults [FVI]; malformations; or miscellaneous); and (2) focal lesions (frontal, basal ganglia, and/or thalamus). Assessments included: (1) bimanual performance; (2) unimanual dexterity; and (3) executive function tasks (information processing, attention control, cognitive flexibility, and goal setting) and behavioural ratings (parent). From 131 recruited children, 60 were ineligible for analysis, leaving 71 children (47 males, 24 females) in the final sample (mean age 9y [SD 2y], 6y-12y 8mo). Brain MRIs were WMI (69%) and FVI (31%); and frontal (59%), thalamic (45%), basal ganglia (37%), and basal ganglia plus thalamic (21%). Bimanual performance was lower in FVI versus WMI (p<0.003), and with frontal (p=0.36), basal ganglia (p=0.032), and thalamic/basal ganglia lesions (p=0.013). Other than information processing, executive function tasks were not associated with predominant pattern. Frontal lesions predicted attention control (p=0.049) and cognitive flexibility (p=0.009) but not goal setting, information processing, or behavioural ratings. Clinical brain MRI predicts cognitive and motor outcomes when focal lesions and predominate lesion patterns are considered. What this paper adds Early brain magnetic resonance imaging (MRI) predicts bimanual performance and cognitive outcomes. Brain MRI may identify children requiring targeted interventions. Basal ganglia with/without thalamic lesions predicted bimanual performance. Frontal lesions were associated with attention control and cognitive flexibility. Brain MRI predominant patterns predicted motor, not cognitive outcomes, other than information processing.

What predicts the proxy-reported health-related quality of life of adolescents with cerebral palsy in Bangladesh?

BackgroundThe health-related quality of life (HRQoL) of adolescents with CP in low and middle-income countries is often poor, as is the case in Bangladesh. This exploratory study examined what factors predict the proxy-reported HRQoL of adolescents with CP in rural Bangladesh, a typical low- and middle-income country (LMIC).MethodsAdolescents with CP (10 to 18y) were identified using the Bangladesh Cerebral Palsy Register. HRQoL was assessed using the Cerebral Palsy Quality of Life-Teens proxy-report questionnaire (CPQoL-Teens), adolescent mental health using the Strengths and Difficulty Questionnaire (SDQ) and caregiver mental health using the Depression, Anxiety and Stress Scale (DASS-21). Theoretical and statistical interests (i.e. bivariate analysis, p < 0.05) identified potential predictors which were entered into hierarchical multiple linear regression (HMLR) models in order of clinical significance; HMLR related adolescent clinical characteristics, adolescent and caregiver mental health and proxies of socioeconomic status to CPQoL-Teens dimensions.ResultsOne hundred fifty-four adolescents with CP (mean age 15y 1mo, SD 1y 8mo, female 31.2%) participated in this study.Twenty-four factors were identified to explore for relationship to adolescent proxy-reported HRQoL. Fifteen of the factors correlated to one or more CPQoL-Teens dimension; strongest correlation was between ‘feelings about functioning’ and motor impairment (r = 0.545). Nine were predictive of CPQoL-Teens dimensions; adolescent sex, school attendance, severity of motor impairment, hearing and speech impairment, mother’s education, primary caregiver depression and stress, and having a sanitary latrine at home resulting in score changes of between 0.79 (95% CI 0.24 to 1.35) to 35.1 (95% CI 6.03 to 64.22).ConclusionsMany of the factors predicting the proxy-reported HRQoL of adolescents with CP are amenable to intervention, and have the potential to improve adolescent wellbeing. Several determinants are priorities of the sustainable development goals (SDGs); these findings should inform resource prioritization to improve the wellbeing of adolescents with CP in Bangladesh and other LMICs.

Test-retest reliability of the Dyskinesia Impairment Scale: measuring dystonia and choreoathetosis in dyskinetic cerebral palsy.

To assess test-retest reliability of the Dyskinesia Impairment Scale (DIS) in children and young adults with dyskinetic cerebral palsy (CP). Dystonia and choreoathetosis were assessed in 15 participants with dyskinetic CP (13 males, 2 females; age range 5-22y, mean 14y, SD 4y) using the DIS in two separate sessions over 7 days. Exclusion criteria were changes in muscle relaxant medication within the previous 3 months, orthopaedic or neurosurgical interventions within the previous year, and spinal fusion. Intraclass correlation coefficient, confidence intervals (CI), standard error of measurement, and the minimal detectable difference (MDD) were determined for test-retest reliability. Intraclass correlation coefficients of the DIS, the dystonia subscale of the DIS, and the choreoathetosis subscale of the DIS were 0.98 (95% CI 0.94-0.99), 0.97 (95% CI 0.92-0.99), and 0.96 (95% CI 0.90-0.99). The standard error of measurement and MDD were 2.6% and 7.2%. The DIS is a reliable tool to assess dystonia and choreoathetosis; it remains stable over time in children and young adults with dyskinetic CP. These results add to the current evidence for good clinimetric properties of the DIS. The Dyskinesia Impairment Scale (DIS) shows stability in scoring dystonia and choreoathetosis. The total DIS score and dystonia and choreoathetosis subscales are clinically useful.

Neurocognitive and behavioural profile in Panayiotopoulos syndrome.

To determine neurocognitive performance and behavioural problems in children with Panayiotopoulos syndrome. All 18 children (10 females, 8 males; mean age 4y 7mo; SD 1y 10mo) diagnosed with Panayiotopoulos syndrome at the Kempenhaeghe Epilepsy Center in the Netherlands between 2010 and 2017 were analysed retrospectively. All underwent a neuropsychological/behavioural assessment, an academic assessment, and a 24-hour electroencephalogram. Mean full-scaleIQ (93.5; range 76-123; p=0.04) and performance IQ (93.2; range 76-126; p=0.04) were within the normal range, although significantly lower compared to the normative mean. Verbal IQ (96.3; range 76-118) and processing speed (96.1; range 74-114) were not significantly lower. Simple auditory/visual reaction times, visual attention, visual-motor integration, and verbal memory were significantly lower compared to normative values. On average, patients with Panayiotopoulos syndrome were 8 months behind in arithmetic speed and 11 months behind in reading speed for the number of months in school. Behavioural questionnaires revealed significantly higher scores on reported internalizing behavioural problems. Children with Panayiotopoulos syndrome demonstrated diffuse cognitive dysfunction in full-scale IQ, performance IQ, visual attention, visual-motor integration, and verbal memory. A high incidence of internalizing behavioural problems was reported. This strongly suggests neuropsychological and behavioural comorbidity in children with Panayiotopoulos syndrome. Children with Panayiotopoulos syndrome are at risk for cognitive deficits in various cognitive domains. Children with Panayiotopoulos syndrome are also prone to internalizing behavioural problems. Mild-to-severe academic underachievement was present in more than half of the children with Panayiotopoulos syndrome.

Changes in severity and impact of drooling after submandibular gland botulinum neurotoxin A injections in children with neurodevelopmental disabilities.

AimsTo examine changes in objective and subjective drooling severity measures after submandibular botulinum neurotoxin A injection in children with neurodevelopmental disabilities, explore their relationship, and evaluate if clinically relevant responses relate to changes in the impact of drooling.MethodThis longitudinal, observational cohort study involved 160 children (92 males, 68 females; 3–17y, mean 9y 1mo, SD 3y 6mo) treated between 2000 and 2012 at the Radboud University Medical Center, Nijmegen, the Netherlands. Repeated measures analysis of variance was used to compare the 5‐minute Drooling Quotient (DQ5) and Visual Analogue Scale (VAS) for drooling severity pretreatment and posttreatment, and Pearson’s rho to assess their association. A parent questionnaire was used to assess drooling impact in responders (defined as ≥50% reduction in DQ5 and/or ≥2 SD reduction in VAS for drooling severity 8wks postintervention) and non‐responders.ResultsOne hundred and twelve children (70%) were responders. Their mean VAS for drooling severity and DQ5 scores were significantly lower 32 weeks postintervention compared to baseline. At baseline, the VAS for drooling severity‐DQ5 relationship was ‘weak’ (rs=0.15, p=0.060), whereas it was ‘fair’ at 8 weeks (rs=0.43, p=0.000) and 32 weeks (rs=0.30, p=0.000). For responders, a significant change was found regarding the impact of drooling on daily care and social interactions at 8 weeks after intervention; most of these effects were maintained at 32 weeks.InterpretationA clinically relevant response based on a combination of objective and subjective measures of drooling severity was accompanied by positive changes regarding the impact of drooling on daily care and social interactions.What this paper adds Botulinum neurotoxin A injection into the submandibular glands reduced drooling severity in 70% of children with neurodevelopmental disabilities.Objective (5‐minute Drooling Quotient) and subjective (Visual Analogue Scale for drooling severity) measures correlated 8 and 32 weeks after treatment.Objective and subjective measures complemented each other when changes in drooling severity were assessed.Reduced drooling severity was accompanied by positive changes with regard to the impact of drooling.

Seizure freedom improves health-related quality of life after epilepsy surgery in children.

To determine whether epilepsy surgery improved health-related quality of life (HRQoL) and whether seizure freedom after surgery mediated the improvement in HRQoL. This multicenter cohort study compared HRQoL after epilepsy surgery to pharmacological management in children with drug-resistant epilepsy (DRE). HRQoL was measured using the Quality of Life in Childhood Epilepsy (QOLCE) questionnaire at baseline and 1-year follow-up. The mediator between treatment type and HRQoL was seizure freedom. Two hundred and thirty-seven patients were recruited (surgery group: n=147 [92 males, 45 females]; pharmacological group: n=90 [53 males, 37 females]). Mean age at seizure onset was 6 years (SD 4y 4mo) in the surgical group and 6 years 1 month (SD 4y) in the pharmacological group. The odds ratio of seizure freedom was higher for the surgery versus pharmacological group (β=4.24 [95% confidence interval {CI}: 2.26-7.93], p<0.001). Surgery had no direct effect on total QOLCE score at 1-year (β=0.24 [95% CI -2.04 to 2.51], p=0.839) compared to pharmacological management, but had an indirect effect on total QOLCE that was mediated by seizure freedom (β=0.92 [95% CI 0.19-1.65], p=0.013), adjusting for baseline total QOLCE score. Surgery had a direct effect on improving social function (p=0.043), and an indirect effect on improving physical function (p=0.016), cognition (p=0.042), social function (p=0.012) and behavior (p=0.032), mediated by seizure freedom. Greater seizure freedom achieved through epilepsy surgery mediated the improvement in HRQoL compared to pharmacological management in children with DRE. Seizure freedom is higher after pediatric epilepsy surgery compared to pharmacologically managed epilepsy. Surgery indirectly improves health-related quality of life (HRQoL) mediated by seizure freedom compared to pharmacological management. Surgery has a direct effect on improving social function relative to pharmacological management. Baseline HRQoL was an important predictor of HRQoL after treatment.

Validity and reliability of the Dynamic Gait Index in children with hemiplegic cerebral palsy

BackgroundDynamic Gait Index (DGI) is a performance-based tool can be applied in a short time and evaluates dynamic balance and gait ability. Research questionIs the DGI valid and reliable for assessing gait and balance disorders in children with hemiplegic cerebral palsy (CP)? MethodsSixteen children with hemiplegic CP (5 females, 11 males; mean age 10y 3mo, SD 2y 7mo; range 6–14y; Gross Motor Function Classification System (GMFCS) levels I [n = 9], II [n = 7]) and 16 age-matched typically developing (TD) (8 females, 8 males; mean age 9y 9mo, SD 2y 6mo; range 6–14y) participated. The relationship between the DGI, Four-Square Step Test (FSST), Timed Up and Go Test (TUG) and Pediatric Berg Balance Scale (PBS) was analyzed. To determine the test-retest reliability, the DGI was performed twice and; for the inter-rater reliability, only DGI was reapplied by a different rater on the same day. Internal consistency was obtained by Cronbach-α value. Validity was tested by Spearman correlation coefficient and reliability was calculated by Intraclass correlation coefficient (ICC). ResultsThere was a significant difference between hemiplegic CP and TD and between the children with GMFCS level I and II in the comparison of results of the DGI and other tests. All items on the DGI had appropriate internal consistency (Cronbach-α = 0.969). The test-retest (ICC = 0.970 CI(0.915- 0.990)) and inter-rater (ICC = 0.983 CI(0.882- 0.998)) reliabilities were found to be excellent. A negative, moderate correlation between FSST and DGI (rs = −0.673, p = 0.004); a positive, high correlation between PBS (rs = 0.724, p = 0.002) and DGI and a negative, high correlation between TUG and DGI (rs = −0.828, p < 0.001) was detected. SignificanceDGI with features such as its feasibility in a short time, being simple but distinctive and not requiring heavy equipment is a valid and reliable method in children with hemiplegic CP.

Anticholinergic medications for reducing drooling in children with developmental disability.

To determine: the effectiveness of three anticholinergic medications in reducing drooling in children with developmental disabilities (such as cerebral palsy, intellectual disability, and autism spectrum disorder), the frequency and nature of side effects, and their impact on treatment discontinuation. After prescription of benzhexol hydrochloride, glycopyrrolate, or scopolamine patches at a tertiary saliva control clinic, all carers of 110 consecutive, eligible patients were recruited over a 5-year period. They provided data for 52weeks, or until drug discontinuation, on compliance, drooling, adverse effects, and reasons for cessation. We evaluated and compared best drooling response, side effects, and drug cessation rates using survival analysis, and the effect of baseline variables on the discontinuation rate using proportional hazards regression. Among 110 participants (71 males, 39 females; mean age 8y 5mo [SD 4y 3mo], range 1y 11mo-18y 11mo), benzhexol, glycopyrrolate, and scopolamine were prescribed 81, 62, and 17 times respectively, with respective response rates of 85%, 75%, and 65%. Poor head control and poor oromotor function were predictive of poor response. Side effects frequently prompted drug cessation in males more than females (hazard ratio 1.8 [95% confidence interval 1.0-3.2], p=0.048). Glycopyrrolate had the fewest side effects. Benzhexol, glycopyrrolate, and scopolamine reduce drooling, but improvement is offset by adverse side effects. Overall, glycopyrrolate performs best. In drooling, glycopyrrolate produced the greatest improvement with fewer side effects compared with benzhexol and scopolamine. Poor head control and poor oromotor function were associated with poor response. Medication side effects were common and often led to treatment discontinuation. Behavioural issues instigated cessation of benzhexol more often in males than females.

Functional parameter measurements in children with ataxia telangiectasia.

To collect preliminary functional data on ataxia telangiectasia and create a disease specific scale: the Ataxia Telangiectasia Functional Scale (ATFS). Retrospective information on patients with ataxia telangiectasia referred to the Assistive Technology Unit was included. Functional mobility scales (the Gross Motor Function Classification System [GMFCS] and the Functional Mobility Scale [FMS]-5, FMS-50, FMS-500) and activities of daily living [ADL] parameters were recorded. We created a 51-point ATFS, that consisted of three ambulation items adapted for ataxia telangiectasia in the frame of FMS (home, school, outdoors), five ADL items, and one schooling item. Twenty-seven participants (17 males, 10 females; mean age 10y 8mo [SD 5y 1mo], range 1y 9mo-25y 6mo), were enrolled; 168 measurements were recorded. Patients walked at a mean age of 1year 4months (SD 5y 4mo) and lost ambulatory capacity at 8years 8months (SD 2y 1mo). GMFCS level and FMS-5, FMS-50, FMS-500 assessments correlated with age (Spearman's correlations r=0.555, -0.617, -0.639, -0.662 respectively, p<0.01 for all), but plateaued after 12years of age. ATFS mean score was 37.46 (SD 7.88) and increased with age (Spearman's correlation r=0.585, p<0.01). The scale showed threestages of disease progression. In this pilot study we show longitudinal functional data of ambulation and ADL skills in ataxia telangiectasia, and created a framework for a functional scale. This functional scale closely approximated disease course, but further validation is required. The Gross Motor Function Classification System and the Functional Mobility Scale are ill-suited for ataxia telangiectasia assessments. Three functional mobility scales (home, school, outdoors) suited to ataxia telangiectasiawere created. The Ataxia Telangiectasia Functional Scale (ATFS) combines mobility and items of activities of daily living. The ATFS closely approximates the three-stage progression of the disorder.

Behavioral phenotype and sleep problems in SATB2-associated syndrome.

To determine the nature and frequency of behavioral phenotypes and sleep disturbances in individuals with SATB2-associated syndrome (SAS). The Strengths and Difficulties Questionnaire (SDQ) and an age-appropriate sleep questionnaire were distributed to the parents of individuals with SAS. All scores were compared to available normative data. Thirty-one individuals completed the assessment (18 females, 13 males; mean age 7y 4mo [SD 4y 1mo], range 2-16y). Individuals with SAS had significantly higher Total Difficulty scores than the normative sample (14.9 [SD 5.8] vs 7.1 [SD 5.7], p<0.001). A high frequency of emotional problems (22.6% vs 8%, p=0.01), peer problems (48.4% vs 10%, p<0.001), hyperactivity (48.4% vs 9%, p<0.001), and low prosocial behaviors (45.2% vs 9%, p<0.001) contribute to the behavioral profile in SAS. Concurrent sleeping difficulties were also frequently identified. Ten individuals in the 5 to 15years age range had at least one sleep disorder (mean Sleep Disturbance Scale for Children total score 40.9 [SD 8.4] vs 35.1 [SD 7.7], p<0.001). With previous limited available objective neurobehavioral data on the SAS population, we reported evidence of high-risk for a broad spectrum of burdensome behavioral phenotype and concurrent sleeping difficulties, the latter being particularly prevalent during early childhood. Routine assessment and treatment for behavioral issues and sleep problems is recommended. Emotional and peer problems, hyperactivity, and low prosocial behavior are common in SATB2-associated syndrome. The Strength and Difficulties Questionnaire Total Difficulty scores are atypical in nearly half of individuals. Behavioral difficulties are perceived as burdensome to over half of the parents. Nearly half of individuals have at least one sleep disorder. Sleep-wake transition disorders were most common.

A quality of life questionnaire for adolescents with cerebral palsy: psychometric properties of the Bengali CPQoL-teens

BackgroundQuality of life (QoL) and health-related quality of life (HRQoL) measurement in low and middle-income countries of people with cerebral palsy (CP), the major cause of childhood physical disability, is essential to assess the impact of interventions and inform policies that best improve people’s lives. The purpose of this study was to cross-culturally translate and psychometrically validate the Cerebral Palsy Quality of Life-Teens (CPQoL-Teens) self- and proxy-report questionnaires for application with adolescents with CP in Bangladesh.MethodThe CPQoL-Teens questionnaires were translated to Bengali using forward and backwards cross-cultural translation protocols. The questionnaires were interviewer administered to adolescents and their primary caregivers, identified through the Bangladesh Cerebral Palsy Register. Feasibility, sensitivity, internal consistency, content, concurrent and construct validity were assessed.ResultsOne hundred fifty four adolescents with CP (10 to 18y; mean 15y 1mo SD 1y 8mo; 31.2% female) participated. Feasibility, sensitivity and internal consistency of both self- and proxy-report questionnaires was excellent; nil missing scores except ‘school wellbeing’ which was associated with non-school attendance (48.4 to 74.7%); floor and ceiling effect ≤13.6%; Cronbach’s alpha 0.77 to 0.94. Instrument validity was good; confirmatory factor analysis reflected five of the seven original instrument dimensions. CPQoL-Teens correlated to Kidscreen-27 on most dimensions (r = 0.176 to 0.693, p < 0.05); minimal difference in known groups was observed by mental health status (p < 0.05) although could be accounted for by homogeneity of mental health problems in the sample.ConclusionThe CPQoL-Teens self- and proxy report questionnaires successfully translated to Bengali and showed excellent feasibility and strong psychometric properties confirming suitability to assess indicators of HRQoL among adolescents with CP in Bangladesh.

Cognitive impairment in children with CACNA1A mutations.

To describe the clinico-radiological phenotype of children with a CACNA1A mutation and to precisely evaluate their learning ability and cognitive status. Children between the ages of 3 and 18years harboring a pathogenic CACNA1A mutation associated with episodic ataxia, hemiplegic migraine, benign paroxysmal torticollis, benign paroxysmal vertigo, or benign paroxysmal tonic upgaze, were enrolled in this cross-sectional study. Data concerning psychomotor development, academic performance, educational management, clinical examination at inclusion, and brain imaging were collected. Cognitive assessment was performed using age-standardized scales. Eighteen patients (nine males, nine females; mean age at inclusion: 11y 7mo [SD 4y 5mo; range 3y-17y 11mo]) from 14 families were enrolled. Eleven patients displayed the coexistence or consecutive occurrence of more than one type of episodic event. Nine patients exhibited abnormal neurological examination at inclusion. Brain magnetic resonance imaging (MRI) showed cerebellar atrophy in five patients. Psychomotor development was delayed in nine patients and academic difficulties were reported by the parents in 15 patients; nine patients were in special education. Impairment of intellectual function was assessed in six of the 12 patients with interpretable Full-scale IQ scores and was more frequent when cerebellar atrophy was present on MRI. Cognitive impairment is commonly associated with CACNA1A mutations. We suggest that CACNA1A-associated phenotype should be considered a neurodevelopmental disorder. Cognitive disabilities and academic difficulties are common in children with CACNA1A mutations associated with episodic syndromes. Cognitive function ranges from normal to moderate intellectual disorder in wheelchair-dependent children. Patients with vermian atrophy are at a higher risk of cognitive impairment.

Predictive model of proficiency in powered mobility of children and young adults with motor impairments.

To identify variables that can predict proficiency in powered mobility use for children in young adults. Participants included 80 children and young adults (42 males, 38 females; mean age 10y 2mo, [SD 5y 1mo]; range: 2-22y) with cerebral palsy, neuromuscular disease, and spinal cord injury who participated in the ALYN Hospital Powered Mobility Lending Program from 2009 to 2016. Data were collected and compared before and after participation in the program and powered mobility levels were determined by the Israeli Ministry of Health (MOH) Powered Mobility Proficiency Test. Multivariate logistic regression analysis followed by a bootstrapping procedure that was based on 1000 samples were used to determine if the variables were predictive of success on the Israeli MOH Powered Mobility Proficiency Test. Significant variables for predicting success were identified: manual wheelchair propulsion, go-stop voluntarily upon request, and using a joystick. The model was able to correctly identify 80% of the children. Children and young adults with the ability to go-stop upon request, propel a manual wheelchair short distances, and use a joystick to activate the powered wheelchair had a higher chance of becoming proficient. In countries where wheelchair proficiency is a requirement for powered wheelchair procurement, these findings may support policy changes, as they did in Israel. Using powered wheelchairs offers children earlier and more natural practice to determine driving proficiency. Manual wheelchair propulsion, go-stop voluntarily upon request, and using a joystick were predictors of powered mobility proficiency. More than 80% of children use a joystick with their hand to activate a powered wheelchair.

Neuropsychiatric profile of paediatric hypothalamic hamartoma: systematic review and case series.

To evaluate neuropsychiatric comorbidities in children and adolescents with hypothalamic hamartoma. We retrospectively analysed case notes for all individuals with hypothalamic hamartoma referred to Great Ormond Street Hospital, London, between 2000 and 2016. In addition, a systematic review aiming to identify all previous paediatric case series was performed. Psychiatric symptoms, demographics, physical comorbidities, and cognitive functioning were recorded for all cases where possible. Analyses were performed to determine which factors were associated with psychopathology and potential mechanisms investigated. Forty-six cases were included in the case series (28 males, 18 females; mean age at assessment 11y 8mo [1y 11mo-16y 11mo, SD 4y 0mo]). Twenty-nine papers representing data from 264 cases met inclusion criteria for the systematic review. Overall, at least 50% of cases presented with psychopathology. Epilepsy, intellectual disability, and male sex were associated with externalizing disorders (attention-deficit/hyperactivity disorder, conduct and oppositional defiance disorders, and rage attacks). Intellectual disability mediated the effects of epilepsy on externalizing psychopathology. No factors were associated with internalizing disorders (anxiety and depressive disorders), although these were not well reported. Psychiatric comorbidities are highly prevalent in the presentation of paediatric hypothalamic hamartoma. The aetiology of psychopathology comprises a range of interacting biological and psychosocial factors with particular influence from epilepsy. Further research is required to achieve an evidence base for treatment. Over half of children with hypothalamic hamartoma present with psychiatric comorbidity. Externalizing and internalizing disorders are present in approximately 60% and 30% of children with hypothalamic hamartomas respectively. Epilepsy and male sex are associated with externalizing psychopathology. Intellectual disability mediates the association between epilepsy and externalizing symptoms. No clear associations are evident for internalizing disorders or precocious puberty.

Anthropometric measurements to identify undernutrition in children with cerebral palsy.

To evaluate the diagnostic performance of anthropometric indicators to identify undernutrition in children with cerebral palsy (CP). The present study was a monocentric retrospective analysis of prospectively collected data among children and adolescents with CP participating in a rehabilitation program. Undernutrition was defined as a z-score for dual-energy X-ray absorptiometry (DXA) determined body fat percentage less or equal to -2.0. The cut-off values for body mass index (BMI) of the World Health Organization (WHO) and the Centers for Disease Control and Prevention (CDC), and the cut-off values for BMI and height for age of the Robert Koch Institut (RKI) were evaluated. In total, 329 children with CP (181 males, 148 females, Gross Motor Function Classification System levels I-V) were eligible for analysis. The mean age was 12years 4months (SD 2y 9mo). The BMI cut-off values showed the following sensitivities and specificities: WHO, sensitivity of 0.474 (95% confidence interval [CI] 0.244-0.711), specificity of 0.897 (95% CI: 0.857-0.928); CDC, sensitivity of 0.632 (95% CI: 0.384-0.837), specificity of 0.819 (95% CI: 0.772-0.861); RKI, sensitivity of 0.789 (95% CI: 0.544-0.939), specificity of 0.732 (95% CI: 0.679-0.781); and for height for age, sensitivity of 0.263 (95% CI: 0.091-0.512), specificity of 0.668 (95% CI: 0.612-0.720). BMI had a high specificity but very low sensitivity in identifying undernutrition in children with CP. Z-scores for height for age had even lower specificity and sensitivity and seemed not to be appropriate for predicting undernutrition in children with CP. Body mass index (BMI) z-scores had a high specificity but very low sensitivity in identifying undernutrition in children with cerebral palsy (CP). Height z-scores were not appropriate for predicting undernutrition in children with CP. Undernutrition assessed by BMI was overestimated in children with CP versus when assessed by dual-energy X-ray absorptiometry (DXA).

Upper limb impairments, process skills, and outcome in children with unilateral cerebral palsy.

AimTo examine the relationships between upper limb impairments and independence in self‐care (ISC) in children with unilateral cerebral palsy (CP).MethodOne hundred and eight children with unilateral CP (46 females, 62 males; mean age 8y 7mo, SD 3y 9mo) recruited from a population register were assessed for upper limb muscle power, spasticity, sensation, motor control, and process skills, and for ISC as the functional outcome using structural equation modelling.ResultsThe model showed good fit indices and explained 90% of the variance in ISC. Direct effects were significant between manual ability and ISC (β=0.47), and process skills and ISC (β=0.63). Sensation had a significant positive indirect effect on ISC through manual ability (β=0.24) and a positive but marginally non‐significant indirect effect through process skills (β=0.21, bootstrapped 95% confidence interval −0.05 to 0.55). Spasticity had a significant negative indirect effect on ISC through its effect on manual ability (β=−0.21). Age had a significant positive indirect effect on ISC, as did intellect, through their effect on process skills (β=0.34 and 0.21 respectively).Interpretation ISC is affected by upper limb impairments and process skill. Sensation influences ISC through its effects on manual and process skill abilities. Both sensation and process skills require further evaluation to assist ISC in children with unilateral CP.What this paper adds Process skills and manual ability most strongly positively influence independence in self‐care (ISC) in children with unilateral cerebral palsy.Sensation influences ISC through manual ability and process skill.

Cognitive and adaptive functioning in congenital and childhood forms of myotonic dystrophy type 1: a longitudinal study.

To conduct a longitudinal follow-up of the development of global cognitive abilities and adaptive skills in individuals with congenital and childhood forms of myotonic dystrophy type 1 (DM1). Fifty-one participants (29 males, 22 females, mean age 19y 5mo, SD 4y 11mo, range 10y 10mo-28y 11mo) were divided into severe congenital (n=16), mild congenital (n=17), and childhood DM1 (n=18) subgroups. The average time between the first and second assessments was 7years 8months. Adaptive skills were evaluated using the Vineland Adaptive Behavior Scales and global cognitive functioning using Wechsler scales. There was no statistically significant decline in cognitive abilities and adaptive behaviour. A tendency of decline regarding the level of intellectual disability was found in the congenital DM1 groups but not in the childhood group. In the congenital DM1 groups, the gap in relation to typically developing peers in cognitive and adaptive functioning increased. Predictors of change over time in adaptive skills were age and current level of intellectual disability: individuals with severe intellectual disability and younger individuals deteriorated the most. However, when raw scores were compared, no actual regression in adaptive functioning was found. The participants had not lost any important adaptive skills. Greater cognitive and adaptive development was found in the childhood group than in the congenital groups. There is no absolute decline in cognitive and adaptive abilities in individuals with congenital and childhood myotonic dystrophy type 1. Pace of development is slow in comparison with normative data. The childhood group tended to show greater cognitive and adaptive development than the congenital groups.

Prevalence of metabolic syndrome and cardiovascular disease risk factors in adults with cerebral palsy.

To investigate the prevalence of metabolic syndrome and cardiovascular disease (CVD) risk factors and the association between common metabolic markers and Gross Motor Function Classification System (GMFCS) levels in ambulatory adults with cerebral palsy (CP). Metabolic markers and GMFCS levels were evaluated in a cross-sectional study of 70 ambulatory adults with CP (34 males, 36 females; mean age 24y 5mo [SD 5y 4mo], range 18y 6mo-48y 8mo) to determine the prevalence of metabolic syndrome and CVD risk factors, and were compared to age-matched, population norms from the National Health and Nutrition Examination Survey (NHANES) registry. The Framingham Heart Study (FHS) CVD risk estimation was also used to evaluate an individual's risk for CVD. Metabolic syndrome was identified in 17.1% of the cohort, higher than the 10% in the NHANES registry. The FHS CVD 30-year lipid and body mass index (BMI)-based risk factor results showed that 20% to 40% of the cohort was at greater risk of developing CVD (BMI-based: 39.7% 'full' CVD risk factor; lipid-based: 26.5% 'full' CVD risk factor) as compared to the FHS normative population data. There was a positive correlation between GMFCS level, waist circumference (r=0.28, p=0.02), and waist-to-hip ratio (r=0.28, p=0.02). Adults with CP are at higher risk of CVD and metabolic syndrome compared to the general population, which is probably because of impaired mobility.

Adaptive functioning in children with neurofibromatosis type 1: relationship to cognition, behavior, and magnetic resonance imaging.

To characterize the adaptive behavior profile of children with neurofibromatosis type 1 (NF1) and determine its relationship to neuropsychological functioning and non-neoplastic T2-weighted hyperintense brain lesions on brain magnetic resonance imaging (MRI). In this cross-sectional study, we retrospectively reviewed neuropsychological reports from 104 children with NF1 (56 males, 48 females; mean age 10y 4mo; standard deviation [SD] 3y 4mo; range 3y 5mo-17y 6mo), and extracted data from a range of cognitive and behavioral measures, including the Adaptive Behavior Assessment System (ABAS). Brain MRI was retrospectively reviewed in 42 individuals. Adaptive Behavior Assessment System scores were continuously distributed and pathologically shifted by 0.79 to 1.26SD across Conceptual, Social, and Practical domains, and 46.5% of individuals had a composite score in the borderline or impaired range. Impairment in adaptive functioning was correlated with deficits in executive function (r=-9.543, p<0.001), externalizing problems (r=-0.366, p<0.001), and attention (r=-9.467, p=0.001). Cluster analysis revealed three distinct phenotypic subgroups, one of which exhibited normal cognitive ability, but impaired adaptive functioning, with persistent deficits in executive function, behavioral problems, and attention-deficit/hyperactivity disorder symptomatology. There was no relationship between ABAS scores and the number or location of unidentified bright objects. Adaptive functioning deficits are common among children with NF1 and are associated with impairment in other cognitive/behavioral domains, independent of general cognitive ability. Deficits in adaptive behavior are common in children with neurofibromatosis type 1 (NF1). Poor adaptive functioning is associated with impairments in executive function, externalizing behaviors, and attention, regardless of cognitive ability. The presence or location of unidentified bright objects do not predict adaptive behavior skills in children with NF1.