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 #2 Neuropsychological Profile of Joubert Syndrome in a Pakistani Canadian Child: A Case Study F. Agate, University of Victoria, Victoria, Canada Chand Taneja, Queen Alexandra Centre for Children’s Health, Victoria, Canada Category: Genetics/Genetic Disorders Keyword 1: neuropsychological assessment Keyword 2: diversity Keyword 3: genetic disorders Objective: Joubert syndrome (JS) is a rare autosomal recessive genetic disorder that is characterized by malformations of the cerebellum and brainstem, along with hypotonia and developmental delays. Global cognitive dysfunction is also common, although the neuropsychological profile is particularly not well understood in culturally diverse children, a gap which the present case study aims to address. Participants and Methods: A 6-year-old ESL Pakistani Canadian girl with JS underwent a neuropsychological evaluation. Testing was limited due to significant challenges with language comprehension and production, as well as sustained attention. Relevant history included a possible CAD deficiency and seizures, as well as motor and language developmental delays. Previous MRI and EEG findings revealed subcortical hyperintensities and abnormal right-sided spike wave activity, respectively. Results: This patient exhibited impairments in visual-spatial perception, fine motor skills, processing speed, and informant-rated adaptive functioning, consistent with a Moderate Intellectual Developmental Disorder. Academically, her performance was generally below expectations. Relative strengths included aspects of working memory, learning and memory, and computation. No problems with mood were endorsed or observed, but she was noted to have social difficulty. Conclusions: This case demonstrates the many areas of cognitive functioning that may be impacted in culturally diverse children with JS, with greater language difficulty and stronger visual memory than may be typical in JS. Extensive and culturally responsive early intervention is recommended in these cases to support daily adaptive functioning and learning. Special attention may be needed to develop language skills for these children who have multilingual, and culturally diverse home environments.

Poster

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

Poster Session 10: Neurodevelopmental | Congenital Conditions

Final Abstract #2

Neuropsychological Profile of Joubert Syndrome in a Pakistani Canadian Child: A Case Study

F. Agate, University of Victoria, Victoria, Canada
Chand Taneja, Queen Alexandra Centre for Children’s Health, Victoria, Canada

Category: Genetics/Genetic Disorders

Keyword 1: neuropsychological assessment
Keyword 2: diversity
Keyword 3: genetic disorders

Objective:

Joubert syndrome (JS) is a rare autosomal recessive genetic disorder that is characterized by malformations of the cerebellum and brainstem, along with hypotonia and developmental delays. Global cognitive dysfunction is also common, although the neuropsychological profile is particularly not well understood in culturally diverse children, a gap which the present case study aims to address.

Participants and Methods:

A 6-year-old ESL Pakistani Canadian girl with JS underwent a neuropsychological evaluation. Testing was limited due to significant challenges with language comprehension and production, as well as sustained attention. Relevant history included a possible CAD deficiency and seizures, as well as motor and language developmental delays. Previous MRI and EEG findings revealed subcortical hyperintensities and abnormal right-sided spike wave activity, respectively.

Results:

This patient exhibited impairments in visual-spatial perception, fine motor skills, processing speed, and informant-rated adaptive functioning, consistent with a Moderate Intellectual Developmental Disorder. Academically, her performance was generally below expectations. Relative strengths included aspects of working memory, learning and memory, and computation. No problems with mood were endorsed or observed, but she was noted to have social difficulty.

Conclusions:

This case demonstrates the many areas of cognitive functioning that may be impacted in culturally diverse children with JS, with greater language difficulty and stronger visual memory than may be typical in JS. Extensive and culturally responsive early intervention is recommended in these cases to support daily adaptive functioning and learning. Special attention may be needed to develop language skills for these children who have multilingual, and culturally diverse home environments.