Association of Gestational Age at Birth and Changes on MRI With Prevalence and Spectrum of Comorbidities in Children With Cerebral Palsy.

Background And Objectives: For individuals with cerebral palsy (CP) and caregivers, comorbidities may be a greater challenge than neuromotor impairment. Clinicians may make assumptions regarding risk of comorbidities based simply on term vs preterm birth, but this has not been well examined. To better understand factors affecting comorbidity pattern, we investigated the relationship between gestational age (GA) and imaging pattern on the presence of specific comorbidities.

Risk Factors and Outcomes for Cerebral Palsy With Hypoxic-Ischemic Brain Injury Patterns Without Documented Neonatal Encephalopathy.

Background And Objectives: Perinatal hypoxic-ischemic brain injury is a leading cause of term-born cerebral palsy, the most common lifelong physical disability. Diagnosis is commonly made in the neonatal period by the combination of neonatal encephalopathy (NE) and typical neuroimaging findings. However, children without a history of neonatal encephalopathy may present later in childhood with motor disability and neuroimaging findings consistent with perinatal hypoxic-ischemic injury.

Evaluation of Individuals with Non-Syndromic Global Developmental Delay and Intellectual Disability.

Global Developmental Delay (GDD) and Intellectual Disability (ID) are two of the most common presentations encountered by physicians taking care of children. GDD/ID is classified into non-syndromic GDD/ID, where GDD/ID is the sole evident clinical feature, or syndromic GDD/ID, where there are additional clinical features or co-morbidities present. Careful evaluation of children with GDD and ID, starting with detailed history followed by a thorough examination, remain the cornerstone for etiologic diagnosis.

Randomized placebo-controlled crossover trial of memantine in children with epileptic encephalopathy.

Memantine is an N-methyl-D-aspartate receptor antagonist, approved for dementia treatment. There is limited evidence of memantine showing benefit for paediatric neurodevelopmental phenotypes, but no randomized placebo-controlled trials in children with developmental and epileptic encephalopathy. In this randomized double-blind placebo-controlled crossover trial (Trial registration: https://clinicaltrials.

Risk Factors for Term-Born Periventricular White Matter Injury in Children With Cerebral Palsy: A Case-Control Study.

Objective: The aim of this study was to identify possible risk factors associated with term-born children with cerebral palsy (CP) and periventricular white matter injury (PVWMI) on imaging.

Methods: This is a case-controlled study restricted to term-born children with CP with the cases extracted from the Canadian Cerebral Palsy Registry and controls from Alberta Pregnancy Outcomes and Nutrition (APrON) study. A diagnosis of PVWMI was performed based on expert categorization of MRI reports.

Copy number variation in genetic epilepsy with febrile seizures plus.

Aim: Genetic epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which affected individuals may have a variety of epilepsy phenotypes, the most common being febrile seizures (FS) and febrile seizures plus (FS+). We investigated the possible contribution of copy number variation to GEFS+.

Method: We searched our epilepsy research database for patients in GEFS + families who underwent chromosomal microarray analysis.

Sudden unexpected death in GEFS+ families with sodium channel pathogenic variants.

We aimed to describe families with genetic epilepsy with febrile seizures plus (GEFS+) in which individuals suffered sudden unexpected death. The Epilepsy Pharmacogenomics Research Database was reviewed for GEFS + families in which at least one individual had suffered sudden death, and two families were identified. In Family A, five males had febrile seizures and one girl had febrile seizures plus.

Developmental outcomes in children with congenital cerebellar malformations.

Aim: Neurodevelopmental outcomes in children with congenital cerebellar malformations (CCMs) remain poorly defined. We aimed to assess whether specific neuroimaging features in CCM patients correlate with neurodevelopmental outcomes.

Method: Hospital records and neuroimaging of 67 children with CCMs were systematically reviewed.

The Association Between Maternal Age and Cerebral Palsy Risk Factors.

Background: Advanced maternal age is associated with higher frequencies of antenatal and perinatal conditions, as well as a higher risk of cerebral palsy in offspring. We explore the association between maternal age and specific cerebral palsy risk factors.

Methods: Data were extracted from the Canadian Cerebral Palsy Registry.

Two Novel Mutations in 2 Families With Benign Familial Neonatal Convulsions.

Benign familial neonatal convulsion is a rare autosomal dominant inherited epilepsy syndrome characterized by unprovoked seizures in the first few days of life, normal psychomotor development, and a positive intergenerational family history of neonatal seizures. Over 90% of the affected individuals have inherited causal mutations in , which encodes for the potassium voltage-gated channel subfamily Q, member 2. Mutations in are also associated with a severe neonatal encephalopathy phenotype associated with poor seizure control and neurodevelopmental deficits.

Clinical and Radiologic Spectrum of Septo-optic Dysplasia: Review of 17 Cases.

We retrospectively reviewed the clinical and radiologic characteristics of 17 individuals with septo-optic dysplasia (SOD) and attempted to identify correlations between imaging findings, clinical features, and neurodevelopmental outcome. Surprisingly, only 1 (6%) individual was classified as classic SOD (with septum pellucidum/corpus callosum dysgenesis), 3 (18%) as SOD-like (with normal septum pellucidum/corpus callosum) and the majority, 13 (76%), as SOD-plus (with cortical brain malformation). Cortical abnormalities included schizencephaly, polymicrogyria, and gray matter heterotopias.

The 'ouR-HOPE' approach for ethics and communication about neonatal neurological injury.

Predicting neurological outcomes of neonates with acute brain injury is an essential component of shared decision-making, in order to guide the development of treatment goals and appropriate care plans. It can aid parents in imagining the child's future, and guide timely and ongoing treatment decisions, including shifting treatment goals and focusing on comfort care. However, numerous challenges have been reported with respect to evidence-based practices for prognostication such as biases about prognosis among clinicians.

Perinatal Regionalization and Implications for Long-Term Health Outcomes in Cerebral Palsy.

Background: Perinatal regionalization is linked to improved neonatal outcomes; however, the effects on long-term outcomes in cerebral palsy (CP) are not known. We estimate the effect of highest levels of neonatal care available at delivery on the risk of developing a nonambulatory CP status.

Methods: Children with CP born in Quebec from the Canadian CP Registry excluding postneonatal causes were included (N=360).

Cerebral palsy after neonatal encephalopathy: do neonates with suspected asphyxia have worse outcomes?

Aim: We sought to investigate how brain injury and severity, and neurological subtype of cerebral palsy (CP) differed in term-born children with CP after neonatal encephalopathy, between those with suspected birth asphyxia and those without.

Method: Using the Canadian CP Registry, which included 1001 children, those with CP born at ≥ 36 wks after moderate or severe neonatal encephalopathy, were dichotomized according to the presence or absence of suspected birth asphyxia. Gross Motor Function Classification System (GMFCS) scores, neurological subtypes, comorbidities, and magnetic resonance imaging findings were compared.

Clinically relevant copy number variations detected in cerebral palsy.

Cerebral palsy (CP) represents a group of non-progressive clinically heterogeneous disorders that are characterized by motor impairment and early age of onset, frequently accompanied by co-morbidities. The cause of CP has historically been attributed to environmental stressors resulting in brain damage. While genetic risk factors are also implicated, guidelines for diagnostic assessment of CP do not recommend for routine genetic testing.

Cerebral Palsy after Neonatal Encephalopathy: How Much Is Preventable?

Objectives: To determine the expected proportion of term cerebral palsy (CP) after neonatal encephalopathy (NE) that could theoretically be prevented by hypothermia and elucidate the perinatal factors associated with CP after NE in those who do not meet currently used clinical criteria required to qualify for hypothermia ("cooling criteria").

Study Design: Using the Canadian CP Registry, we categorized children born at ≥ 36 weeks with birth weight ≥ 1800 g with CP after moderate or severe NE according to the presence or absence of cooling criteria. Maternal, perinatal, postnatal, and placental factors were compared between the 2 groups.

Somatosensory evoked potentials in neonates with hypoxic-ischemic encephalopathy treated with hypothermia.

Objective: Somatosensory evoked potentials (SEPs) are reported to have high positive predictive value (PPV) for neurodevelopmental impairment (NDI) in neonates with moderate or severe hypoxic-ischemic encephalopathy (HIE). Our objective was to assess if this predictive value remains high with the use of therapeutic hypothermia.

Methods: A cohort of HIE neonates treated with hypothermia was recruited between September 2008 and September 2010.

Autism spectrum disorder in a term birth neonatal intensive care unit population.

Background: Nonspecific perinatal risk factors have been revealed to be associated with the development of autism spectrum disorder. However, term at-risk infants, as a distinct population, are underrepresented in the literature. This study examines the incidence and neonatal risk factors for autism spectrum disorder in term neonatal intensive care unit survivors.

Epidemiology of severe hearing impairment in a population-based cerebral palsy cohort.

Background: Comorbidities including hearing impairment occur commonly in individuals with cerebral palsy (CP).

Methods: Hearing impairment was assessed in a registry-derived population-based sample of children with CP.

Results: Hearing impairment was documented in 12.

Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood.

Introduction: We have identified a large consanguineous Lebanese family with 5 individuals with severe childhood-onset recessive sensory loss associated with deafness and variable optic atrophy.

Methods: Autozygosity mapping was performed in all affected individuals, followed by whole-exome sequencing (WES) in 2 individuals.

Results: WES identified a homozygous missense mutation (c.

Spectrum of visual disorders in a population-based cerebral palsy cohort.

Background: Children with cerebral palsy are known to be at increased risk for visual impairment.

Methods: In a population-based sample drawn from a geographically defined registry, the profile of visual impairment in children with cerebral palsy was investigated.

Results: Close to half (49.