INS NYC 2024 Program

Poster

Poster Session 08 Program Schedule

02/16/2024
01:45 pm - 03:00 pm
Room: Shubert Complex (Posters 1-60)

Poster Session 08: Cognition | Cognitive Reserve Variables


Final Abstract #30

Cognition in the Context of Complete Sensory Neuropathy

Maureen Lacy, University of Chicago Medicine, Chicago, United States
Hannah Hagy, University of Chicago Medicine, Chicago, United States
Peggy Mason, University of Chicago, Chicago, United States

Category: Other

Keyword 1: transdisciplinary research

Objective:

Research has consistently shown that a paucity of touch during early development has been associated with developmental delays, impaired physical growth, limited cognitive development and overall worse functional outcomes. In this case report, we investigate the neurocognitive and socioemotional performance of the only individual in the world born with a complete congenital sensory neuropathy allowing for the first time an examination of the cognitive and psychosocial consequences of no-touch.

Participants and Methods:

With IRB approval and written consent, a comprehensive neuropsychological evaluation was completed with a woman with a complete sensory neuropathy. Assessment of socioemotional functioning was completed via a standardized well validated structured interview [Autism Diagnostic Observation-2nd edition (ADOS-2; Adult)] along with separate interviews with the patient, her mother and sister. The family also completed related developmental questionnaires.

Results:

A 44-year-old left-handed, single female born early (28 weeks) to healthy parents with post-delivery marked by a 3-month long hospital stay due to a lack of diagnosis and feeding problems. Parents declined to seek recommended institutionalization. Early development was marked by frequent crying and erratic sleep, yet the patient was soothed by parental smiling, cradling, and exhibited facial responses to voices. Grasping hands and sitting was reported by 9 months (e.g., never crawled) yet “scooted” and was viewed as “chatty” by 2 years. Mobility was limited due to lack of sensory feedback leading to later primary transport via use of a motorized wheelchair. Academic years involved early special needs homerooms and “physical aids” but otherwise mainstream classes through law school. She consistently attained average to above average grades with positive social relationships. Highschool years were notable for somatization tendencies (e.g., morning nausea to avoid school) in response to possible bullying and anxiety with brief effective pharmacological (Buspar) treatment via primary doctor. Post law school, she has maintained a position as a law firm researcher. A review of neuropsychological assessment data revealed above average-to-average scores on measures of intellect, learning, memory, language, executive, spatial and constructional tasks. She displayed word retrieval difficulties on a confrontational naming task likely due to test variability within a large battery (i.e., fluency/vocabulary above average). Completion of the ADOS2-Adult assessment indicated communication and socialization patterns that did not fall within the classification of Autism or autism spectrum disorders. This was consistent with clinical observations including social interactions and family reports.

Conclusions:

This is the 1st detailed neurobehavioral profile of a person who developed without somatosensation.  Her condition allows for a unique opportunity to objectively investigate the role of touch on neurocognitive and socioemotional development. The current profile does not provide evidence for the commonly held belief that physical touch is required for normal psychosocial and cognitive development.  While research suggests that touch and interoceptive ability play a critical role in the developmental trajectories of cognitive and psychosocial skills, this case report demonstrates that those with congenital sensory neuropathy may develop intact cognitive and psychosocial functioning.