Psychomotor and cognitive impairments of children with CHARGE syndrome: common and variable features

We aimed to understand the mechanisms and sources of learning difficulties in children with CHARGE syndrome who attend school and to determine any specific developmental characteristics.

We analyzed the psychomotor and cognitive functions of eight children from 7 to 13 years old with classical CHARGE syndrome by using the Wechsler Intelligence Scale for Children (WISC), the Neuropsychomotor test (NP-MOT), and several subtests of the Developmental neuropsychological assessment (NEPSY) and Kaufman Assessment Battery for Children (K-ABC) instruments.

The IQ range was from 54 to 92. The main weaknesses related to three domains: static and dynamic postural control, visuospatio-constructive abilities, and both sequential processing and selective attention. The main strengths were in holistic perception, semantic competencies, logical reasoning and planning skills, with axial and peripheral hypotonia. The extent of psychomotor and cognitive deficits was not associated with severity of sensorial deficiencies. We discuss the multiple causal mechanisms of psychomotor and cognitive difficulties.

We found a persistent and homogeneous psychomotor profile and specific cognitive difficulties in 8 children with CHARGE syndrome despite their large range of IQs. Highlighting these specific impairments is important to understand the nature and mechanisms of CHARGE for adapting educational and rehabilitation methods. These problems may be explained by sensory deficits, as well as dysfunction in integrating and/or regulatory regions of the brain.