[The analysis of nervous system functions in dysmorphic syndromes]

Area of Science:

• Neuroscience
• Clinical Genetics
• Developmental Pediatrics

Context:

• Dysmorphic syndromes frequently involve the central nervous system (CNS).
• Accurate clinical definition requires systematic analysis of nervous system functions.
• Morphological assessment via MRI is insufficient alone.

Purpose:

• To outline essential neuroelectrophysiological and neuropsychological investigations for dysmorphic syndromes.
• To emphasize a comprehensive approach integrating imaging, electrophysiology, and cognitive testing.
• To guide clinicians in defining CNS involvement in these conditions.

Summary:

• Proposed neuroelectrophysiological tests include EEG, multimodal evoked potentials (VEP, BAEP, SEP), cortical magnetic stimulation, and P300.
• Recommended neuropsychological assessments encompass general intelligence scales (Wechsler, Terman-Merrill, Brunet-Lezine) and specialized tests (Raven's Matrices, Bender, Santucci, etc.).
• Behavioral evaluations using scales like Conner's, Autism Diagnostic Interview, Adaptive Behaviour Scale, and Brief Psychiatric Rating Scale are vital in specific cases.

Impact:

• Facilitates more precise diagnosis and characterization of dysmorphic syndromes.
• Improves understanding of CNS dysfunction in affected individuals.
• Supports tailored intervention and management strategies for patients with dysmorphic syndromes.