INS NYC 2024 Program

Poster	Poster Session 10 Program Schedule 02/17/2024 09:00 am - 10:15 am Room: Shubert Complex (Posters 1-60) Poster Session 10: Neurodevelopmental \| Congenital Conditions Final Abstract #14 Neurobehavioral Profile of an Adult with Right-Temporal Open-Cleft Schizencephaly Brooke Boulais, University of Chicago, Chicago, United States Kailyn Helgeson, University of Chicago, Chicago, United States Ted Lee, University of Chicago, Chicago, United States Maureen Lacy, University of Chicago, Chicago, United States Category: Medical/Neurological Disorders/Other (Adult) Keyword 1: neuropsychological assessment Keyword 2: brain disorder Objective: Schizencephaly is an exceedingly rare (e.g., 1.5 per 1,000,000) neurodevelopmental disorder marked by early neural migration dysfunction with clefts in the cortex filling with CSF and grey matter. The cause is unknown but often associated with early perinatal injury, young maternal age, toxic exposure, viruses, and amniocentesis complications (Dies et al. 2012). Schizencephaly has been associated with polymicrogyria, septo-optic dysplasia, contralateral spasticity, hemiparesis, and seizures. Individuals with bilateral clefts, larger cleft sizes, and open-lip clefts are shown to have worse outcomes. A review of the literature revealed scant information on the neurobehavioral presentation associated with Schizencephaly, primarily limited to child cases focusing on physical outcomes (Veerapaneni et al. 2023). In one of only 2 published adult neuropsychological focused case reports Brown and colleagues (1993) documented normal cognition in a patient with left closed-lip cleft with reorganization to contralateral side. Allen and colleagues (2010) documented impaired language, executive, visuospatial, and motor functioning with intact memory and intellect in a patient with bilateral clefts diagnosed in her 30s. The current study is the first to examine the longitudinal neurobehavioral presentation of a young adult with Schizencephaly. Participants and Methods: With IRB approval, a review of the medical record, including previous neuropsychological assessment report (age 12), was conducted, along with an interview with the patient and his mother. The patient completed a comprehensive neuropsychological assessment battery as part of standard of care. Results: 18-year-old right-handed male whose prior assessment documented written language and attentional deficits. Developmental history was notable for delayed motor abilities with left hemiparesis. Medical history included intractable epilepsy. Current assessment demonstrated average scores on measures of intellect, verbal learning, verbal memory, language, and higher-order executive functioning with lower scores on measures of attention, processing speed, and spatial memory, with left-grip weakness and slowed fine motor dexterity speed abilities. He denied significant psychosocial or psychological distress. Functionally he is thriving with no notable problems completing age-appropriate tasks. MRI revealed narrow-cleft, open-lipped cleft on the right with dysplastic cortex along banks of the cleft, polymicrogyria in the left hemisphere at the parietotemporal junction, absence of the septum pellucidum, and subjective hypoplasia of the intraorbital optic nerves. VEEG revealed slowing and disorganization of the right central, temporal, and posterior quadrant. PET revealed decreased activity in the right thalamus, bilateral cingulate gyri, right temporal lobe, and left medial temporal lobe. fMRI revealed distorted right cerebral anatomy with motor and sensory activity possibly residing in the cleft to some degree. Language was documented to be left-dominant with typical placement though Wernicke’s area in the dysplastic cortex. Conclusions: This is the first known comprehensive neurobehavioral and longitudinal presentation of an individual with Schizencephaly. While ongoing developmental issues with written language and attention remain, he otherwise displayed grossly intact cognitive and emotional functioning! Previous research indicates unilateral and smaller clefts as seen in this patient are often associated with less severe physical outcomes. Notably our findings suggest similar less severe neurocognitive sequalae.

Poster

02/17/2024
09:00 am - 10:15 am
Room: Shubert Complex (Posters 1-60)

Poster Session 10: Neurodevelopmental | Congenital Conditions

Final Abstract #14

Neurobehavioral Profile of an Adult with Right-Temporal Open-Cleft Schizencephaly

Brooke Boulais, University of Chicago, Chicago, United States
Kailyn Helgeson, University of Chicago, Chicago, United States
Ted Lee, University of Chicago, Chicago, United States
Maureen Lacy, University of Chicago, Chicago, United States

Category: Medical/Neurological Disorders/Other (Adult)

Keyword 1: neuropsychological assessment
Keyword 2: brain disorder

Objective:

Schizencephaly is an exceedingly rare (e.g., 1.5 per 1,000,000) neurodevelopmental disorder marked by early neural migration dysfunction with clefts in the cortex filling with CSF and grey matter. The cause is unknown but often associated with early perinatal injury, young maternal age, toxic exposure, viruses, and amniocentesis complications (Dies et al. 2012). Schizencephaly has been associated with polymicrogyria, septo-optic dysplasia, contralateral spasticity, hemiparesis, and seizures. Individuals with bilateral clefts, larger cleft sizes, and open-lip clefts are shown to have worse outcomes.

A review of the literature revealed scant information on the neurobehavioral presentation associated with Schizencephaly, primarily limited to child cases focusing on physical outcomes (Veerapaneni et al. 2023). In one of only 2 published adult neuropsychological focused case reports Brown and colleagues (1993) documented normal cognition in a patient with left closed-lip cleft with reorganization to contralateral side. Allen and colleagues (2010) documented impaired language, executive, visuospatial, and motor functioning with intact memory and intellect in a patient with bilateral clefts diagnosed in her 30s. The current study is the first to examine the longitudinal neurobehavioral presentation of a young adult with Schizencephaly.

Participants and Methods:

With IRB approval, a review of the medical record, including previous neuropsychological assessment report (age 12), was conducted, along with an interview with the patient and his mother. The patient completed a comprehensive neuropsychological assessment battery as part of standard of care.

Results:

18-year-old right-handed male whose prior assessment documented written language and attentional deficits. Developmental history was notable for delayed motor abilities with left hemiparesis. Medical history included intractable epilepsy. Current assessment demonstrated average scores on measures of intellect, verbal learning, verbal memory, language, and higher-order executive functioning with lower scores on measures of attention, processing speed, and spatial memory, with left-grip weakness and slowed fine motor dexterity speed abilities. He denied significant psychosocial or psychological distress. Functionally he is thriving with no notable problems completing age-appropriate tasks. MRI revealed narrow-cleft, open-lipped cleft on the right with dysplastic cortex along banks of the cleft, polymicrogyria in the left hemisphere at the parietotemporal junction, absence of the septum pellucidum, and subjective hypoplasia of the intraorbital optic nerves. VEEG revealed slowing and disorganization of the right central, temporal, and posterior quadrant. PET revealed decreased activity in the right thalamus, bilateral cingulate gyri, right temporal lobe, and left medial temporal lobe. fMRI revealed distorted right cerebral anatomy with motor and sensory activity possibly residing in the cleft to some degree. Language was documented to be left-dominant with typical placement though Wernicke’s area in the dysplastic cortex.

Conclusions:

This is the first known comprehensive neurobehavioral and longitudinal presentation of an individual with Schizencephaly. While ongoing developmental issues with written language and attention remain, he otherwise displayed grossly intact cognitive and emotional functioning! Previous research indicates unilateral and smaller clefts as seen in this patient are often associated with less severe physical outcomes. Notably our findings suggest similar less severe neurocognitive sequalae.