Spectrum of neurodevelopmental disabilities in children with cerebellar malformations

Marie-Eve Bolduc1, Adré J Du Plessis, Nancy Sullivan

  • 1School of Physical and Occupational Therapy, McGill University, Montreal, Quebec, Canada.

Insights

Children with cerebellar malformations (CBMs) face significant neurodevelopmental challenges, including motor, cognitive, and social-behavioral deficits. Early intervention and developmental surveillance are crucial for their long-term outcomes.

Area of Science:

  • Pediatric Neurology
  • Developmental Neuroscience
  • Neuroimaging

Background:

  • Advances in perinatal care and neuroimaging have increased the detection of fetal cerebellar malformations (CBMs).
  • Understanding the long-term neurodevelopmental impact of CBMs is crucial for affected children.

Purpose of the Study:

  • To delineate the impact of cerebellar malformations (CBMs) on long-term neurodevelopmental outcomes in children.
  • To identify predictors of neurodevelopmental disabilities in infants with CBMs.

Main Methods:

  • A cross-sectional study identified children with CBMs born between 2000-2006.
  • Follow-up included MRI, neurologic exams, and standardized neurodevelopmental assessments (Mullen, Vineland, CBCL, M-CHAT, PedsQL).
  • Exclusion criteria included acquired brain injury, birth trauma, metabolic disease, or major ischemia.

Main Results:

  • Children with CBMs exhibit high rates of neurologic, developmental, and functional disabilities (motor, cognitive, language, social-behavioral).
  • Associated supratentorial anomalies, chromosomal findings, and cerebellar vermis malformations predicted neurodevelopmental disabilities.
  • Supratentorial anomalies and chromosomal findings predicted global delay, cognitive impairment, motor delays, and autism screening. Cerebellar vermis malformations predicted expressive language and motor delays.

Conclusions:

  • Cerebellar malformations are associated with significant and varied neurodevelopmental deficits.
  • Associated anomalies and specific malformations are key predictors of developmental outcomes.
  • Developmental surveillance and early intervention are essential for managing children with CBMs.
Abstract

Related Concept Videos

Autism Spectrum Disorder01:19

Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
Learning Disabilities01:25

Learning Disabilities

Learning disabilities are cognitive disorders caused by neurological impairments that affect cognitive functions like language and reading, without indicating overall intellectual or developmental challenges. These disabilities differ from global intellectual or developmental disabilities as they are limited to distinct cognitive functions. Common learning disabilities include dysgraphia, dyslexia, and dyscalculia, each of which impacts unique aspects of learning.
Dyslexia
Dyslexia is a...
Intellectual Disability01:29

Intellectual Disability

Intellectual disability (ID) is a neurodevelopmental condition characterized by deficits in intellectual and adaptive functioning that manifest during the developmental period. This condition encompasses challenges in reasoning, memory, problem-solving, and learning, accompanied by impairments in everyday life skills, such as communication, self-care, and social interactions. Intellectual disability affects approximately 1% of the population in the United States, impacting an estimated 5...
Neurulation01:30

Neurulation

Neurulation is the embryological process which forms the precursors of the central nervous system and occurs after gastrulation has established the three primary cell layers of the embryo: ectoderm, mesoderm, and endoderm. In humans, the majority of this system is formed via primary neurulation, in which the central portion of the ectoderm—originally appearing as a flat sheet of cells—folds upwards and inwards, sealing off to form a hollow neural tube. As development proceeds, the anterior...
Disorders of the Nervous Tissue01:28

Disorders of the Nervous Tissue

Nervous tissue is a vital component of the human body's communication system, enabling us to perceive and respond to stimuli. However, like all other tissues, it is vulnerable to disorders and diseases that can significantly impact our neurological functioning.
Homeostatic Imbalances:
Alzheimer's disease manifests as a gradual decline in memory and cognitive abilities, attributed to the buildup of amyloid plaques and neurofibrillary tangles in the brain.
Parkinson's disease arises from the...
Major Somatic Sensory Pathways01:28

Major Somatic Sensory Pathways

Sensory impulses related to touch, pressure, vibration, and proprioception from various body parts, such as the limbs, trunk, neck, and posterior head, travel to the cerebral cortex through the posterior column-medial lemniscus pathway. The pathway’s name derives from the two white-matter tracts that convey the impulses: the spinal cord's posterior column and the brainstem's medial lemniscus. First-order sensory neurons extend their axons into the spinal cord, forming the posterior columns...