Identification of a Founder GLDN Variant Associated With "Lethal" Arthrogryposis in Nunavik Inuit: Implications for Obstetrical and Long-Term Survivors' Management.

Biallelic variants in GLDN have recently been associated with lethal congenital contracture syndrome 11 (LCCS11), a form of fetal akinesia deformation sequence (FADS) with high neonatal mortality. In this report, we describe five individuals from two Canadian Inuit families originating from different communities in Nunavik all affected with FADS and harboring a rare homozygous missense variant, [NM_181789.4:c.

Cerebral palsy characteristics in term-born children with and without detectable perinatal risk factors: A cross-sectional study.

Aim: To compare, in term-born children with cerebral palsy (CP), the characteristics of those who exhibit detectable risk factors for CP at birth with those who do not.

Method: This was a cross-sectional study of term-born children using the Canadian Cerebral Palsy Registry comparing those with and without perinatal risk factors and/or neonatal symptoms for pregnancy, birth and neonatal characteristics, magnetic resonance imaging (MRI) findings, CP subtype, and impairment severity. Risk factors were quantified with a CP risk calculator.

Macrostructural Brain Abnormalities in Spinal Muscular Atrophy: A Case-Control Study.

Background And Objectives: Most individuals with spinal muscular atrophy (SMA) on disease-modifying therapies continue to have chronic motor impairment. Insights into brain involvement in SMA may open new pathways for adjunctive therapies to optimize outcomes. We aimed to characterize macrostructural brain abnormalities detected by MRI in individuals with SMA compared with peer controls.

Early Biomarkers in the Prediction of Later Functional Impairment in Preterm Children With Cerebral Palsy.

Background: To identify early biomarkers that could predict later functional capabilities in preterm children with later cerebral palsy (CP).

Methods: Data from 968 preterm children with later CP were extracted from the Canadian Cerebral Palsy Registry. One hundred eighty-two infants were born before 27 weeks of gestation, 461 infants were born between 27 and 33 weeks, and 325 infants were born between 34 and 37 weeks.