Informing the development of the Canadian Neurodiversity Platform: What is important to parents of children with neurodevelopmental disabilities?

BACKGROUND: A crowd-sourced Canadian platform that collects information across neurodevelopmental disabilities (NDDs) can (1) facilitate knowledge mobilization; (2) provide epidemiological data that can benefit knowledge, treatment, and advocacy; and (3) inform policy and resource allocation decisions. We obtained input from parents of children with NDDs about relevance and feasibility of questionnaire items as a first step to inform questionnaire development of a stakeholder-driven, national platform for data collection on children with NDDs. METHODS: A parent of a teenager with NDDs was a research partner on the project. Through four focus groups and using a guided discussion consensus process, 16 participants provided feedback on whether questionnaire items from existing instruments related to function and disability were feasible for parents to complete and important to include in the platform. Data were analysed using content analysis. RESULTS: Participants (1) indicated that questions about medical history, general health, body functioning, self-care, access to resources, and outcomes (e.g., quality of life) are important to include in the platform and are feasible for self-completion; (2) provided various suggestions for the questionnaire ranging from additional items to include, using non-medical language, and keeping completion time from 20 to 30 min; (3) identified incentives and knowing the purpose of the platform as strong motivators to platform participation; (4) spoke about the challenges of their caregiver experience including impact of caregiving on themselves and barriers to accessing services; and (5) highlighted the isolation experienced by their children. CONCLUSION: Through the focus groups, parent stakeholders contributed to questionnaire development and shared their caregiver experiences. Obtaining feedback from youths with NDDs and healthcare providers on the questionnaire is a next step to validating findings. Stakeholder engagement is fundamental to developing a platform that will inform research that is relevant to the needs of children with NDDs and their families.

Perinatal arterial ischemic stroke and periventricular venous infarction in infants with unilateral cerebral palsy.

AIM: To explore clinical factors associated with perinatal arterial ischemic stroke (AIS) and periventricular venous infarction (PVI) in infants who develop unilateral cerebral palsy (CP). METHOD: This was a case-control study. Data current to 2019 was extracted from the Canadian Cerebral Palsy Registry (CCPR). Cases were infants born at term with confirmed unilateral CP. Magnetic resonance images were stratified by expert review of reports as definitive perinatal stroke (AIS or PVI). Controls with common data elements were recruited from a population-based study in Alberta. Multivariable regression analyses were performed to estimate associations expressed as odds ratios with 95% confidence intervals. RESULTS: Of 2093 cases from the CCPR, 662 had unilateral CP, of whom 299 (45%) had perinatal stroke: AIS 169 (57%) and PVI 130 (43%). Median age at diagnosis for AIS was 11.9 months (interquartile range: 6.2-25.7mo; range 0.17-104.1mo), and 58.6% were male. Median age at diagnosis for PVI was 25.3 months (interquartile range: 14.5-38mo, range 0.7-114.7mo) and 57.7% were male. Independent associations for both AIS and PVI on multivariable analysis were chorioamnionitis, illicit drug exposure, diabetes, gestational age, and maternal age. Variables associated with AIS alone were low Apgar score and prolonged rupture of membranes. Variables associated with PVI alone were small for gestational age and primigravida. INTERPRETATION: Controlled analysis of disease-specific unilateral CP may offer unique perspectives on its pathophysiology. Acute intrapartum factors are mainly associated with AIS, while in utero factors are associated with PVI.

Cerebral palsy in Canadian Indigenous children.

AIM: To determine whether inequities in health outcomes for Indigenous Canadians are also present in cerebral palsy (CP) by comparing CP profiles between Indigenous and non-Indigenous children. METHOD: Using the Canadian Cerebral Palsy Registry, we conducted a cross-sectional study. CP motor subtype, gross motor severity, comorbidities, perinatal adversity, preterm birth, and parental education were compared between 94 Indigenous (53 males, 41 females) and 1555 non-Indigenous (891 males, 664 females) children (all >5y). Multivariate analysis was done to analyze adverse CP factors, defined as CP gross motor severity and comorbidities. CP etiologies, either prenatal/perinatal or postnatal, were also compared. RESULTS: Indigenous children with CP have higher odds of having low parental education (odds ratio [OR] 6.15, 95% confidence interval [CI] 3.36-11.3) and comorbidities (OR 4.46, 95% CI 1.62-12.3), especially cognitive (OR 4.52, 95% CI 2.27-9.05), communication (OR 2.66, 95% CI 1.54-4.61), and feeding (OR 2.25, 95% CI 1.33-3.83) impairment. Indigenous children also have higher CP gross motor severity (p=0.03). Indigenous children are also more likely to have non-accidental head injury (n=4; OR 8.18, 95% CI 1.86-36.0) as the cause of their postnatal CP. INTERPRETATION: Indigenous populations have worse health outcomes as a result of intergenerational impacts of colonization. Our study shows that Indigenous children with CP have increased comorbidities and higher CP gross motor severity, reinforcing the need for a multidisciplinary approach to management. Furthermore, targeted prevention programs against preventable causes of CP, such as non-accidental head injury, may be beneficial. WHAT THIS PAPER ADDS: Indigenous children with cerebral palsy (CP) have more severe motor impairment and more comorbidities. Non-accidental head injury is a significant cause of postnatal CP.

Losing a diagnosis of cerebral palsy: a comparison of variables at 2 and 5 years.

AIM: This study aims to identify characteristics at 2 years of age that differ between children with confirmed cerebral palsy (CP) and a non-CP diagnosis by 5 years of age. METHOD: This was a retrospective cohort analysis. A CP diagnosis may be considered a 'probable' diagnosis at 2 years, which is often 'confirmed' at 4 or 5 years, particularly in the context of CP registries. A total of 1683 children with a diagnosis of CP or probable CP at 2 years of age were identified from the Canadian Cerebral Palsy Registry, of whom 48 received a non-CP diagnosis at 5 years ('non-confirmed CP'). Perinatal adversity, preterm birth status, Gross Motor Function Classification System (GMFCS) level, presence of comorbidities, magnetic resonance imaging (MRI) findings, and initial CP motor type were compared between the two groups by univariate and logistic regression analyses. RESULTS: χ2 analysis and multivariate analysis both confirmed that children with a non-CP diagnosis by 5 years of age were more likely to have a normal MRI (χ2 odds ratio [OR]=7.8, 95% confidence interval [CI]=3.8-16.1; OR=5.4, 95% CI=2.4-12.5), ataxic-hypotonic (χ2 OR=10.1, 95% CI=4.9-21.2; OR=6.1, 95% CI=2.2-16.2) or dyskinetic CP (χ2 OR=2.7, 95% CI=1.2-5.9; OR=2.9, 95% CI=1.0-7.6), born at term (χ2 OR=3.7, 95% CI=1.7-8.0; OR=3.6, 95% CI=1.0-12.1), and lack perinatal adversity (χ2 OR=4.1, 95% CI=1.6-10.7; OR=3.4, 95% CI=1.0-11.7). INTERPRETATION: Normal MRI, ataxic-hypotonic or dyskinetic CP, lack of perinatal adversity, and term birth are associated with a higher odds of non-CP diagnosis by 5 years of age, thus potentially enhancing diagnostic work-up. WHAT THIS PAPER ADDS: Normal magnetic resonance imaging (MRI) at 2 years was associated with a non-cerebral palsy (CP) diagnosis by 5 years. Diagnosis of ataxic-hypotonic or dyskinetic CP motor subtype at 2 years was associated with a non-CP diagnosis by 5 years. Perinatal adversity and preterm birth were rarer with a non-CP diagnosis by 5 years.

OPORTUNIDADES DIAGNOSTICAS PERDIDAS DE PARÁLISIS CEREBRAL: UNA COMPARACIÓN DE VARIABLES A LOS 2 Y 5 AÑOS: OBJETIVO: Este estudio tiene como objetivo identificar características a los 2 años de edad que diferencian a los niños con parálisis cerebral (PC) confirmada y niños sin diagnóstico de PC a los 5 años de edad. MÉTODO: Se realizó un estudio de cohorte retrospectivo. Un diagnóstico de PC puede considerarse como "probable" a los 2 años, lo que es con frecuencia "confirmado" a los 4 o 5 años de edad, particularmente en el contexto de los registros de PC. Se identificaron un total de 1.683 niños con diagnóstico de PC o PC probable a los 2 años de edad en el Registro Canadiense de PC, de los cuales 48 recibieron un diagnóstico de no PC a los 5 años (PC no confirmado). Se compararon entre los 2 grupos: la adversidad perinatal, prematuridad, nivel de función motora en el sistema de Clasificación Motora Gruesa (GMFCS), la presencia de comorbilidades, hallazgos en imágenes de resonancia magnética nuclear (RMN), y tipo motor inicial de PC; usando un análisis univariado y de regresión logística. RESULTADOS: Tanto el análisis X2 como el multivariado confirmaron que los niños sin diagnóstico de PC a los 5 años de vida tenían más probabilidades de tener una RMN normal (X2 odds ratio [OR]= 7.8, intervalo de confianza 95 % [IC]= 3.8-16.1; OR=5.4, IC 95%= 2.4-12.5), ataxia (X2 OR=10.1, IC95%=4.9-21.2; OR=6.1, IC 95%=2.2-16.2) o PC disquinesia (X2 OR =2.7, IC 95%= 1.2-5.9; OR= 2.9, IC 95%= 1.0-7.6), nacidos a término (X2 OR=3.7, IC 95%= 1.7-8.0; OR=3.6, IC 95%=1.0-12.1), y niños sin adversidad perinatal (X2 OR=4.1, IC 95%=1.6-10.7; OR=3.4, IC 95% 1.0-11.7). INTERPRETACIÓN: La resonancia magnética normal, la PC atáxica o disquinesica, la falta de adversidad perinatal y el parto a término se asocian con una mayor probabilidad de no diagnóstico de PC a los 5 años de edad; esto refuerza el trabajo diagnóstico.

PERDENDO UM DIAGNÓSTICO DE PARALISIA CEREBRAL: UMA COMPARAÇÃO DE VARIÁVEIS AOS 2 E 5 ANOS: OBJETIVO: Este estudo visa identificar características aos 2 anos de idade que discriminem crianças com paralisia cerebral (PC) confirmada e um diagnóstico de não PC aos 5 anos de idade. MÉTODO: Esta foi uma análise de coorte retrospectiva. Um diagnóstico de PC pode ser considerado "provável" aos 2 anos, e é frequentemente confirmado aos 4 ou 5 anos, particularmente no contexto dos registros de PC. Um total de 1.683 crianças com diagnóstico de PC ou provável aos 2 anos de idade foram identificadas no Registro Canadense de Paralisia, dos quais 48 receberam um diagnóstico de não PC aos 5 anos (PC não confirmada). Adversidade perinatal, nascimento prematuro, nível I no sistema de classificação da função motora grossa (GMFCS), presença de comorbidades, achados de imagem por ressonância magnética (IRM), e tipo motor inicial de PC foram comparados entre os dois grupos por meio de análises de regressão univariada e logística. RESULTADOS: Tanto a análise de χ2 quanto a multivariada confirmaram que crianças com diagnóstico de não PC aos 5 anos de idade tinham maior probabilidade de uma IRM normal (χ2 odds ratio [OR]=7,8, intervalo de confiança [IC] 95%=3,8-16,1; OR=5,4, IC 95% =2,4-12,5), PC tipo atáxica (χ2 OR=10,1, IC 95%=4,9-21,2; OR=6,1, IC 95% =2,2-16,2) ou discinética (χ2 OR=2,7, IC 95%=1,2-5,9; OR=2,9, IC 95% =1,0-7,6), serem nascidas a termo (χ2 OR=3,7, IC 95% =1,7-8,0; OR=3,6, IC 95% =1,0-12,1), e não terem histórico de adversidade perinatal (χ2 OR=4,1, IC95% =1,6-10,7; OR=3,4, IC 95% =1,0-11,7). INTERPRETAÇÃO: IRM normal, PC tipo atáxica ou discinética, falta de adversidade perinatal, e nascimento a termo são associados com maior chance de um diagnóstico de PC não confirmado aos 5 anos de idade, o que potencialmente favorece o processo de diagnóstico.

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.