Spectrum of neurodevelopmental disabilities in children with cerebellar malformations

AIM Advances in perinatal care and neuroimaging techniques have increased the detection of cerebellar malformations (CBMs) in the fetus and young infant. As a result, this has necessitated a greater understanding of the neurodevelopmental consequences of CBMs on child development. The aim of this study was to delineate the impact of CBMs on long-term neurodevelopmental outcomes. METHOD We conducted a cross-sectional study and systematically identified children with CBMs born between December 2000 and December 2006. We then performed follow-up magnetic resonance imaging studies, neurologic examination, and standardized neurodevelopmental outcome testing (Mullen Scales of Early Learning, Vineland Adaptive Behavior Scale, Child Behavior Checklist, Modified Checklist for Autism in Toddlers, and the Pediatric Quality of Life Inventory). RESULTS Our sample comprised 49 children (29 males, 20 females; mean age, 28.4mo, SD 16.4) with a CBM. Infants with evidence of acquired fetal or neonatal brain injury, intracranial birth trauma, inherited metabolic disease, or major pre- or postnatal cerebral ischemia were excluded. Our findings highlight that children with CBMs experience a high prevalence of neurologic, developmental, and functional disabilities including motor, cognitive, language, and social-behavioral deficits, as well as poor quality of life. The associated supratentorial anomalies, chromosomal findings, and malformations affecting the cerebellar vermis were significant independent predictors of neurodevelopmental disabilities in young children with CBMs. The associated supratentorial anomalies and chromosomal findings were also predictive of global developmental delay (p = 0.01), cognitive impairment (p = 0.03), gross and fine motor delay (p = 0.02 and p = 0.01 respectively), and positive screening for autism spectrum disorder (p = 0.01). Additionally, malformations affecting the cerebellar vermis were significant independent predictors of expressive language (p = 0.04) and gross motor delays (p = 0.02). INTERPRETATION Developmental surveillance and early intervention programs should be an integral part of the long-term follow-up of survivors of CBM.