Disease severity impacts perceived quality of life in congenital diaphragmatic hernia: a prospective observational study.

BACKGROUND: While research indicates comparable quality of life (QOL) in congenital diaphragmatic hernia (CDH) and healthy populations, the effect of CDH severity on patients' health perceptions remains unexplored. We aimed to assess QOL perception in CDH, hypothesising a decline correlated with increased disease severity. METHODS: In this prospective observational study, we analysed patients with CDH aged 5 years and above participating in a longitudinal outpatient programme. We excluded bilateral CDH, genetic/syndromic conditions, prematurity and late diagnosis. Participants self-administered the age-adapted Pediatric Quality of Life Inventory (PedsQL) survey, covering four domains (physical, emotional, social, school). After enrolment, data were collected blind to severity status (larger defects denoting significant/'severe' disease). Repeated measurements were managed using a random mixed-effects model. RESULTS: Of 34 participants (50% males) who completed the PedsQL, 10 provided measurements at two visits. Eight required a patch (type C), while 26 had primary repairs (type A=8; type B=18). Age at first evaluation was comparable across groups (no patch: median 11 (7-16), patch: 13 (8-15) years, p=0.78). Severe CDH correlated significantly with lower PedsQL scores (adjusted ß: -18%, 95% CI -28%; -7%, adjusted for age at visit and sex). Lower scores specifically occurred in walking, exercising, social and academic functioning. CONCLUSION: Severe CDH significantly lowers QOL. This finding is crucial for resource allocation in long-term CDH health surveillance and advocates for regular inclusion of patient experiences in quality improvement efforts.

Risk stratification helps identify congenital diaphragmatic hernia (CDH) infants in need of formal neurodevelopmental assessment: Observations from a structured, interdisciplinary long-term follow-up clinic.

BACKGROUND/PURPOSE: Neurodevelopmental delay (NDD) affects congenital diaphragmatic hernia (CDH) infants. Initial assessment by experienced developmental pediatricians, supported by Bayley-3 tests, is a viable pathway for NDD identification and surveillance. We risk stratified CDH infants to observe differences in incidence and type of NDD based on disease severity. METHODS: Patients from a CDH long-term follow-up database started in 2012 were reviewed (REB#2019-4583). Risk stratification into low, moderate, and high-risk cohorts was performed using the CDH Study Group Mortality Prediction Score. Patients requiring ECLS, supplemental oxygen at 30 days and patch repair were also considered high-risk (i.e. usual clinical criteria). Post-discharge NDD assessments by developmental pediatricians and occupational therapists (Bayley-3) were analyzed for all patients >18months. NDD incidence and type per risk group was determined using descriptive statistics. RESULTS: Of 102 CDH patients included for study, 26% (27/102) had NDD. Risk stratification identified 2(2%), 7(7%), and 18(18%) patients with NDD in the low, moderate and high-risk groups, respectively. Language delay (2 low; 6 moderate; 10 high) was the most prevalent. Three patients had both expressive and receptive language delay. Motor deficits were observed almost exclusively in the high-risk group. CONCLUSION: Based on our experience, NDD affects one-quarter of CDH infants. Risk stratification helped identify infants at increased risk of NDD. While language delays predominated across all risk groups, multiple deficits occurred in higher risk cohorts. These patients should receive structured NDD assessment as part of an optimal interdisciplinary CDH care pathway.

Epilepsy in children with cerebral palsy: a data linkage study.

AIM: To compare the prevalence of epilepsy in children with cerebral palsy (CP) to peer controls and their differences in healthcare utilization. METHOD: The Quebec CP registry was linked to the provincial administrative health database. Two CP cohorts were identified from the registry (n=302, 168 males, 1y 2mo-14y) and administrative data (n=370, 221 males, 2y 2mo-14y). A control cohort (n=6040, 3340 males, 10-14y) was matched by age, sex, and region to the CP registry cohort. Administrative data algorithms were used to define epilepsy cases. Data on hospitalizations and emergency department presentations were obtained. RESULTS: Using the most sensitive epilepsy definition, prevalence was 42.05% in the CP registry, 43.24% in the CP administrative data, and 1.39% in controls. Prevalence rose with increasing Gross Motor Function Classification System level. Children with CP and epilepsy had increased number and length of hospitalizations and emergency department presentations compared to children with CP or epilepsy alone. Epilepsy accounted for approximately 5% of emergency department presentations and 10% of hospitalizations in children with epilepsy, with and without CP. INTERPRETATION: Children with CP have an increased risk of epilepsy compared to their peers. Children with CP and coexisting epilepsy represent a unique subset with complex developmental disability and increased healthcare service utilization.

Hospitalizations in School-Aged Children with Cerebral Palsy and Population-Based Controls.

OBJECTIVE: To compare hospitalizations among children with cerebral palsy (CP) and healthy controls and to identify factors associated with hospitalizations in children with CP. METHODS: This retrospective cohort study linked data from a provincial CP Registry and administrative health databases. The CP cohort was comprised of children born from 1999 to 2002. Age, sex, and region-matched controls were identified from administrative health databases. Mean differences, relative risk (RR), and 95% confidence intervals (CIs) were calculated. RESULTS: A total of 301 children with CP were linked to administrative health data and matched to 6040 controls. Mean hospitalizations per child during the study period were higher in children with CP compared to controls (raw mean difference (RMD) 5.0 95% CI 4.7 to 5.2) with longer length of stay (RMD 2.8 95% CI 1.8 to 3.8) and number of diagnoses per hospitalization (RMD 1.6 95% CI 1.4 to 1.8). Increased risk of hospitalization was observed in non-ambulant children with CP (RR 1.12 95% CI 1.01 to 1.22) compared to ambulant children and among those with spastic tri/quadriplegic CP compared to other CP subtypes (RR 1.15, 95% CI 1.05 to 1.27). Feeding difficulties (RR 1.20 95% CI 1.13 to 1.27), cortical visual (RR 1.22 95% CI 1.13 to 1.32), cognitive (RR 1.16 95% CI 1.04 to 1.30), and communication impairment (RR 1.26 95% CI 1.10 to 1.44) were associated with increased hospitalizations. CONCLUSIONS: Children with CP face more frequent, longer hospital stays than peers, especially those with a more severe CP profile. Coordinated interdisciplinary care is needed in school-aged children with CP and medical complexity.

Emergency Department Use in Children with Cerebral Palsy: A Data Linkage Study.

OBJECTIVE: To describe the pattern of emergency department (ED) consultations in children with cerebral palsy (CP) compared to controls and factors predictive of ED consultations. METHODS: This retrospective cohort study linked data from the Registre de la paralysie cérébrale du Québec (REPACQ) and provincial administrative health databases. The CP cohort was comprised of children enrolled in REPACQ born between 1999 and 2002. REPACQ covers 6 of 17 Quebec health administrative regions. Region-, age-, and gender-matched controls were identified from administrative health databases in a 20:1 ratio. The primary outcome was high use of ED services (≥4 ED visits during the study period). Relative risk (RR) and 95% confidence interval (CI) were calculated. RESULTS: In total, 301 children with CP were linked to administrative data and 6040 peer controls were selected. Ninety-two percent (92%) of the CP cohort had at least one ED visit in the study period, compared to 74% among controls (RR 1.24, 95% CI 1.19-1.28). Children with CP were more likely than their peers to have high ED use (RR 1.40; 95% CI 1.30-1.52). Factors predictive of high ED use were comorbid epilepsy (RR 1.23; 95% CI 1.04-1.46) and severity of motor impairment (RR 1.14; 95% CI 0.95-1.37). CONCLUSION: Children with CP are more likely to present to the ED than their peers, resulting in increased use of ED services. Coordinated care with improved access to same-day evaluations could decrease ED use. Health system factors and barriers should be investigated to ensure optimal and appropriate use of ED services.

Congenital Malformations in Children With Cerebral Palsy: Is Prematurity Protective?

BACKGROUND: Congenital malformations are more common in children who are born prematurely, and prematurity is the leading risk factor for cerebral palsy. The primary objective of this study was to describe the profile of congenital malformations in a Canadian cohort of children with cerebral palsy. The secondary objectives were to compare the profiles of children with cerebral palsy with and without a congenital malformation and explore the possible role of prematurity. METHODS: This retrospective cohort study utilized data from the Canadian Cerebral Palsy Registry, a population based registry of children with a confirmed diagnosis of cerebral palsy. Differences between groups were compared using Pearson's chi-square and Student t test as appropriate. Odds ratios and 95% confidence intervals were calculated RESULTS: Congenital malformations were present in 23% participants. In term-born children, brain malformations were the most common, whereas heart and gastrointestinal malformations were more common in children born prematurely. Children with a malformation had higher odds of being born at term (odds ratio 1.57, 95% confidence interval 1.20 to 2.04); having hypotonic, ataxic, or dyskinetic cerebral palsy (odds ratio 1.92, 95% confidence interval 1.35 to 2.72; being nonambulatory (odds ratio 1.70, 95% confidence interval 1.29 to 2.25); and having cerebral palsy-associated comorbidities. CONCLUSIONS: One in four children with cerebral palsy have an associated congenital malformation. Their profile of term birth, higher Apgar scores, and lower frequency of perinatal seizures suggests a distinct causal pathway.

Ataxic-hypotonic cerebral palsy in a cerebral palsy registry: Insights into a distinct subtype.

OBJECTIVE: To specifically report on ataxic-hypotonic cerebral palsy (CP) using registry data and to directly compare its features with other CP subtypes. METHODS: Data on prenatal, perinatal, and neonatal characteristics and gross motor function (Gross Motor Function Classification System [GMFCS]) and comorbidities in 35 children with ataxic-hypotonic CP were extracted from the Canadian Cerebral Palsy Registry and compared with 1,804 patients with other subtypes of CP. RESULTS: Perinatal adversity was detected significantly more frequently in other subtypes of CP (odds ratio [OR] 4.3, 95% confidence interval [CI] 1.5-11.7). The gestational age at birth was higher in ataxic-hypotonic CP (median 39.0 weeks vs 37.0 weeks, p = 0.027). Children with ataxic-hypotonic CP displayed more intrauterine growth restriction (OR 2.6, 95% CI 1.0-6.8) and congenital malformation (OR 2.4, 95% CI 1.2-4.8). MRI was more likely to be either normal (OR 3.8, 95% CI 1.4-10.5) or to show a cerebral malformation (OR 4.2, 95% CI 1.5-11.9) in ataxic-hypotonic CP. There was no significant difference in terms of GMFCS or the presence of comorbidities, except for more frequent communication impairment in ataxic-hypotonic CP (OR 4.2, 95% CI 1.5-11.6). CONCLUSIONS: Our results suggest a predominantly genetic or prenatal etiology for ataxic-hypotonic CP and imply that a diagnosis of ataxic-hypotonic CP does not impart a worse prognosis with respect to comorbidities or functional impairment. This study contributes toward a better understanding of ataxic-hypotonic CP as a distinct nosologic entity within the spectrum of CP with its own pathogenesis, risk factors, clinical profile, and prognosis compared with other CP subtypes.

Transition in acquired brain injury youth (TrABI-Y): a systematic literature review protocol.

INTRODUCTION: Acquired brain injury (ABI) in paediatrics refers to children born with a neurological deficit, which will lead to a chronic neurological disorder. As advances in medical paediatric health progress, we are seeing these ABI youth transitioning into adult healthcare services while also going through different life events. Despite the growing number of young adult patients, access to transition programmes to facilitate the transition process is still limited and evidence on the effectiveness of these programmes is inconclusive. The purpose of this paper is to provide the protocol for an upcoming systematic literature review on this important issue. METHODS AND ANALYSIS: The start of this systematic literature review is planned for 1 October 2019 and will end on 31 December 2021. According to the PICO framework developed, the Population and the Problem of interest (P) will include children, adolescents and young adults (0-18 years) diagnosed with ABI. The selected articles will have to involve an Intervention (I) relating to the healthcare of this population or life transitions from paediatric to adult-oriented care. Studies will be included if a Comparator (C) intervention was used. The expected Outcomes (O) will have to report quantitative or qualitative health-related outcomes post-transition. This comprehensive search of peer-reviewed literature will include articles published between 2010 and 2020. The databases to be searched include Medline, All EBM Reviews, Embase, PsycINFO and CINAHL. The selected articles will be appraised using the Mixed Methods Appraisal Tool. A synthesis of the findings will be drafted to identify the effectiveness of available transition programmes as well as predictors, factors and determinants involved in the transition process. ETHICS AND DISSEMINATION: This project is not associated with direct individuals. The dissemination plan includes strategies such as using this systematic literature review to develop a research project on transition that will be published.

Is Cerebral Palsy Changing in High Resource Settings? Data From the Quebec Cerebral Palsy Registry.

Advances in maternal and perinatal care in developed countries have led to improved health outcomes for children. These changes may have impacted the profile of children with a cerebral palsy (CP) and groups at risk for CP over time. Using data from the Canadian CP Registry, the objectives of this retrospective cohort study were to describe the profile of children with CP in Quebec born between 1999 and 2010 and identify possible temporal variation in CP risk factors and phenotypic profile. Our sample consisted of 662 children with CP in Quebec. No change in profile or associated risk factors was observed across the birth cohorts 1999 to 2010. Prematurity remains the largest risk factor for CP in Quebec, and children with CP have multiple comorbidities that contribute to overall CP burden. CP registries offer a unique platform to study spectrum disorders and their longitudinal changes over time.

Profile of children with cerebral palsy spectrum disorder and a normal MRI study.

OBJECTIVE: This study looks at what profile can be expected in children with cerebral palsy spectrum disorder (CP) and a normal MRI. METHODS: The data were excerpted from the Canadian Cerebral Palsy Registry database. Only patients who had undergone MRI were included in the analysis. Neuroimaging classification was ascertained by university-based pediatric neuroradiologists and split into 2 categories: normal and abnormal MRIs. Six factors were then compared between those 2 groups: prematurity, perinatal adversity, presence of more than 1 comorbidity, CP subtype, bimanual dexterity (Manual Ability Classification System [MACS]), and gross motor function (Gross Motor Function Classification System [GMFCS]). RESULTS: Participants with no perinatal adversity were 5.518 times more likely to have a normal MRI (p < 0.0001, 95% confidence interval [CI] 4.153-7.330). Furthermore, participants with dyskinetic, ataxic/hypotonic, and spastic diplegic forms of CP were 2.045 times more likely to have a normal MRI than those with hemiplegia, triplegia, and quadriplegia (p < 0.0001, 95% CI 1.506-2.778). No significant difference was found in prematurity, GMFCS levels, MACS levels, and the number of comorbidities. CONCLUSIONS: Normal MRIs were associated with lack of perinatal adversity as well as with the dyskinetic, ataxic/hypotonic, and spastic diplegic CP subtypes. As MRI normality is not strongly associated with the severity of CP, continuous follow-up in children with normal imaging appears warranted. Further advanced imaging modalities, as well as strong consideration for metabolic and genetic testing, may provide additional insights into causal pathways in this population.

Prospective research in infants with mild encephalopathy identified in the first six hours of life: neurodevelopmental outcomes at 18-22 months.

BACKGROUND: Studies of early childhood outcomes of mild hypoxic-ischemic encephalopathy (HIE) identified in the first 6 h of life are lacking. OBJECTIVE: To evaluate neurodevelopmental outcomes at 18-22 months of PRIME study. STUDY DESIGN: Multicenter, prospective study of mild HIE defined as ≥1 abnormality using the modified Sarnat within 6 h of birth and not meeting cooling criteria. Primary outcome was disability with mild: Bayley III cognitive 70-84 or ≥85 and either Gross Motor Function Classification System (GMFCS) 1 or 2, seizures, or hearing deficit; moderate: cognitive 70-84 and either GMFCS 2, seizures, or hearing deficit; severe: cognitive <70, GMFCS 3-5. RESULTS: Of the 63 infants enrolled, 51 (81%) were evaluated at 19 ± 2 months and 43 (68%) completed Bayley III. Of the 43 infants, 7 (16%) were diagnosed with disability, including 1 cerebral palsy and 2 autism. Bayley scores < 85 in either cognition, motor, or language were detected in 17 (40%): 14 (32%) language, 7 (16%) cognitive, and 6 (14%) motor domain. Infants with disability had more abnormalities on discharge examination and brain MRI, with longer hospital stay (p < 0.001). CONCLUSIONS: In this contemporary untreated cohort of mild HIE, disability occurred in 16% of infants at 18-22 months.

Accuracy of administrative claims data for cerebral palsy diagnosis: a retrospective cohort study.

BACKGROUND: Cerebral palsy is the most common cause of childhood physical disability, with multiple associated comorbidities. Administrative claims data provide population-level prevalence estimates for cerebral palsy surveillance; however, their diagnostic accuracy has never been validated in Quebec. This study aimed to assess the accuracy of administrative claims data for the diagnosis of cerebral palsy. METHODS: We conducted a retrospective cohort study of children with cerebral palsy born between 1999 and 2002 within 6 health administrative regions of Quebec. Provincial cerebral palsy registry data (reference standard) and administrative physician claims were linked. We explored differences between true-positive and false-negative cases using subgroup sensitivity analysis. RESULTS: A total of 301 children were identified with confirmed cerebral palsy from the provincial registry, for an estimated prevalence of 1.8 (95% confidence interval [CI] 1.6-2.1) per 1000 children 5 years of age. The sensitivity and specificity of administrative claims data for cerebral palsy were 65.5% (95% CI 59.8%-70.8%) and 99.9% (95% CI 99.9%-99.9%), respectively, yielding a prevalence of 2.0 (95% CI 1.9-2.3) per 1000 children 5 years of age. The positive and negative predictive values were 58.8% (95% CI 53.3%-64.1%) and 99.9% (95% CI 99.9%-99.9%), respectively. The κ value was 0.62 (95% CI 0.57-0.67). Administrative claims data were more sensitive for children from rural regions, born preterm, with spastic quadriparesis and with higher levels of motor impairment. INTERPRETATION: Administrative claims data do not capture the full spectrum of children with cerebral palsy. This suggests the need for a more sensitive case definition and caution when using such data without validation.

Cooling in the real world: therapeutic hypothermia in hypoxic-ischemic encephalopathy.

BACKGROUND AND AIM: The benefits of therapeutic hypothermia have not been assessed from the perspective of the neurology clinic. We aimed to report the impact of the implementation of a local regional therapeutic hypothermia program on the neurodevelopmental outcomes of surviving hypoxic-ischemic encephalopathy (HIE) infants who were followed in the neonatal neurology clinic. METHODS: Retrospective analysis of term infants referred to the neonatal neurology clinic after having been diagnosed with HIE and meeting eligibility criteria for therapeutic hypothermia between March 1999 and June 2010. Therapeutic hypothermia was implemented in September 2008. Outcome measures were dichotomously defined as: normal or adverse, which included cerebral palsy, global developmental delay, and epilepsy. RESULTS: Thirty infants were included in the pre-therapeutic hypothermia group. Thirty-one infants received therapeutic hypothermia and 27 were adequately followed and included in the post-therapeutic hypothermia group. The frequency of an adverse outcome was significantly higher in the pre-therapeutic hypothermia infants (19/30 [63%] versus 4/27 [15%]; OR = 0.10; 95% CI, 0.03-0.37; P < 0.001). Neonatal clinical seizures were more frequent in the pre-therapeutic hypothermia group (P = 0.012). There were no differences regarding frequency of fetal distress, rate of caesarean sections, Apgar scores, need of resuscitation, cord/initial blood gases, and degrees of encephalopathy between the two groups. CONCLUSIONS: The implementation of a regional therapeutic hypothermia program in our institution has vastly reduced the observed neurological morbidity of surviving HIE infants followed in our neonatal neurology clinic. A similar change in outcomes of infants with HIE can be anticipated by other centers and other clinics adopting this therapy.

Effect of forced use therapy on posture in children with hemiplegic cerebral palsy: a pilot study.

OBJECTIVE: To evaluate the impact of forced use therapy on posture in children with hemiplegic cerebral palsy. DESIGN: Single group pre- and post-training assessments. SUBJECTS: Eight children (mean age 10.5 years (standard deviation 1.26 years)) with hemiplegic cerebral palsy Levels I and II on the gross motor function classification scale. METHODS: All participants underwent 12 days (6 h/day) of forced use therapy. Postural asymmetry as well as the centre of pressure range and peak velocity during quiet standing were evaluated before and after the therapy. Upper limb functional level was also assessed using the Bruininks Oseretsky test of Motor Proficiency and the Assisting Hand Assessment. RESULTS: Before forced use therapy, postural asymmetry tended to decrease when the participants wore the upper limb constraint. After forced use therapy, upper limb functional scores improved significantly, and postural asymmetry tended to decrease, compared with the pre-therapy values. Postural improvement was correlated with postural asymmetry before forced use therapy. No significant differences were observed on the centre of pressure displacement parameters during the quiet standing tests in all conditions. CONCLUSION: This pilot study showed that forced use therapy may be an efficient way to improve postural asymmetry in children with hemiplegic cerebral palsy.

Communicating a diagnosis of cerebral palsy: caregiver satisfaction and stress.

As part of the implementation of a population-based registry of children with cerebral palsy, caregiver satisfaction with the process by which diagnosis was originally communicated by a professional was assessed. Satisfaction with various aspects of the diagnosis process was assessed using a five-point Likert scale and related to child, family, and situational characteristics. Measures were then correlated with current caregiver stress as measured objectively by the Parenting Stress Inventory. During the registration process, 59 consecutive caregivers (55 mothers) were questioned. Overall, 62% (35/59) were satisfied with the disclosure process, with satisfaction ranging from 69% (41/59-hopefulness) to 92% (54/59-honesty) for professional qualities, and from 61% (36/59-sufficient information provided) to 78% (46/59-understandable) for disclosure content. Satisfaction was related to the quantity and content of information given at the disclosure session. Parenting Stress Inventory scores, both total and for parental distress, correlated significantly with both the severity of the child's cerebral palsy and caregiver satisfaction with varying elements of the disclosure process. Overall caregiver satisfaction with the process by which a diagnosis of cerebral palsy is given appears to be good. Together with the severity of a child's intrinsic cerebral palsy, it appears to relate to later parental adjustment to a setting of chronic disability, suggesting a portal through which improvements in information delivery may result in better familial adaptation to disability.