Background: Agenesis of the corpus callosum (AgCC) involves congenital absence of all or part of the corpus callosum. Because the disorder can only be firmly diagnosed via neuroradiology, it has a short research history, and only recently has the cognitive syndrome become clear. Purpose: Our purpose is to review the primary deficits in AgCC that constitute the core syndrome. Conclusions: The cores syndrome includes: (1) reduced interhemispheric transfer of sensory-motor information; (2) reduced cognitive processing speed; and (3) deficits in complex reasoning and novel problem-solving. These domains do not appear to reflect different neuroanatomical abnormalities, but rather different domains of expression of reduced interhemispheric communication from callosal absence. Implications: These core deficits are expressed across various domains of cognitive, behavioral, and social functioning. The impact of these deficits varies across development and may be moderated by individual factors such as co-occurrence of other neurodevelopmental conditions, general intellectual capacity, and environmental support. (JINS, 2019, 25, 324–330)

Objectives: Agenesis of the corpus callosum (AgCC), characterized by developmental absence of the corpus callosum, is one of the most common congenital brain malformations. To date, there are limited data on the neuropsychological consequences of AgCC and factors that modulate different outcomes, especially in children. This study aimed to describe general intellectual, academic, executive, social and behavioral functioning in a cohort of school-aged children presenting for clinical services to a hospital and diagnosed with AgCC. The influences of age, social risk and neurological factors were examined. Methods: Twenty-eight school-aged children (8 to 17 years) diagnosed with AgCC completed tests of general intelligence (IQ) and academic functioning. Executive, social and behavioral functioning in daily life, and social risk, were estimated from parent and teacher rated questionnaires. MRI findings reviewed by a pediatric neurologist confirmed diagnosis and identified brain characteristics. Clinical details including the presence of epilepsy and diagnosed genetic condition were obtained from medical records. Results: In our cohort, ~50% of children experienced general intellectual, academic, executive, social and/or behavioral difficulties and ~20% were functioning at a level comparable to typically developing children. Social risk was important for understanding variability in neuropsychological outcomes. Brain anomalies and complete AgCC were associated with lower mathematics performance and poorer executive functioning. Conclusions: This is the first comprehensive report of general intellectual, academic, executive social and behavioral consequences of AgCC in school-aged children. The findings have important clinical implications, suggesting that support to families and targeted intervention could promote positive neuropsychological functioning in children with AgCC who come to clinical attention. (JINS, 2018, 24, 445–455)

Objective: To evaluate the olfactory and psychophysical performances in a 13-year-old boy with intellectual disability and severe hypoplasia of the corpus callosum and of the olfactory bulbs, compared to controls.

Methods: The Sniffin’ Sticks Identification Test was administered to the patient and to a patient control child with cognitive delay, with the same mental (5 years) and chronological age, but normal brain magnetic resonance image. Two typically developing control participants, aged 13 and 5, were also evaluated. Psychophysical tests were performed during the olfactory assessment by smart portable sensors.

Results: A significant decrease in olfactory function and a different psychophysical response to stimuli were observed in the patient compared to control participants, suggesting absence of ‘odorous stress’. A higher olfactory score but a similar psychophysical trend was found in the patient control with cognitive delay, while the two other control participants showed a selective increase of the anxiety state depending on the odour presented.

Conclusions: Olfactory dysfunction is reported in children with neurodevelopmental disabilities. Low-cost, portable devices to assess olfactory function are proposed for use with children with intellectual disability. Stress monitoring by unobtrusive platforms provides discriminant information in this subset, as compared to controls.

Previous research had demonstrated diminished interhemispheric Stroop effects in individuals with agenesis of the corpus callosum (ACC), suggesting an important role for the callosum in interhemispheric color-word and color-patch interactions. However, this outcome rested on the results of only 1 ACC participant, who had normal intelligence and a minimum of other neuropathology. In the research reported herein, the role of the corpus callosum in interhemispheric Stroop interference and facilitation was investigated in 9 individuals with complete or partial ACC and normal intelligence, and in non-ACC controls. Congruent, incongruent, or neutral stimulus pairs were presented either unilaterally (color-patch and color-word in the same visual field) or bilaterally (color-patch and color-word in different visual fields). Both unilateral and bilateral (interhemispheric) Stroop interference were found for both ACC and non-ACC groups, with no significant difference in magnitude, indicating that extracallosal pathways are sufficient for mediating this phenomenon. It is suggested that the anterior commissure is a more likely candidate for the interhemispheric transmission of the semantic information resulting in Stroop interference. (JINS, 2001, 7, 302–311.)