INS NYC 2024 Program

Poster	Poster Session 10 Program Schedule 02/17/2024 09:00 am - 10:15 am Room: Majestic Complex (Posters 61-120) Poster Session 10: Neurodevelopmental \| Congenital Conditions Final Abstract #70 Klinefelter Syndrome Case Series: Commonalities, Variability, and Developmental Course Laura Nicholson, NorthShore University HealthSystem, Evanston, United States Alexandra Kirsch, NorthShore University HealthSystem, Evanston, United States Category: Genetics/Genetic Disorders Keyword 1: language disorder Keyword 2: neuropsychological assessment Objective: Klinefelter syndrome is the most prevalent chromosome condition among those assigned male at birth. While neurological etiology has not been firmly established, there are typically greater challenges in the domains of language, academic learning, mental health, social cognition, attention, and executive functioning. While there tends to be characteristic neuropsychological profiles, the degree of impairment across domains is highly variable and likely change across development. The current case series describes two children, one who recently underwent neuropsychological evaluation, one who was seen for three evaluations over time. This aim of this case series is to explore the commonalities and differences, as well as discuss developmental trajectory over time. Participants and Methods: This case study follows two children diagnosed with Klinefelter syndrome. Patient 1 was seen for an initial evaluation at age 4. Patient 2 has been seen for three neuropsychological evaluations at ages 9, 11, and 13. Patients underwent a full neuropsychological battery in an outpatient medical clinic in the Midwest. Medical records, intake interview, parent-, teacher-, and self-report (if appropriate) ratings scales, and performance-based measures were collected at each evaluation to characterize strengths and weaknesses. Results: Both patients were diagnosed with a language disorder after their first evaluation and showed better receptive versus expressive language profiles. Patient 1 could only say a few words, whereas patient 2 showed significant improvements over time and had no observable challenges by age 13, apart from parent-reported functional language. Patient 2 consistently demonstrated relative strengths in visual-spatial reasoning and processing speed. Due to language challenges, patient 1 was given a non-verbal cognitive functioning measure and demonstrated high average performance on subtests where he appeared appropriately engaged. Both patients showed challenges with attention and impulsivity, but an ADHD diagnosis was deferred in patient 1, whereas patient 2 was diagnosed at age 9. Only patient 1 showed fine motor delays. While patient 2 demonstrated average to exceptionally high performances across academic tasks, and patient 1 showed challenges with early learning concepts. In terms of mood, patient 1’s teachers reported challenges with emotional regulation, whereas patient 2 described anxiety. Both patients demonstrated social strengths overall. Conclusions: The findings of this case study warrant consideration by clinicians of the functional impairment related to Klinefelter syndrome and the commonalities and variability across symptom domains across ages. Both patients showed relative strengths in the domains of social functioning and visual-spatial reasoning. As was the case with patient 2, neuropsychologists have an important role in monitoring children with Klinefelter syndrome over time to observe improvements (e.g., in this case language) and increased challenges (e.g., anxiety), so that parents and teachers can be prepared to implement preventative efforts. In addition, given that it is estimated that only some patients with Klinefelter syndrome are diagnosed and therefore research characterizes more symptomatic cases, neuropsychologists should also be aware that not all patients will have difficulties across documented domains. For example, neither patient showed social challenges, an area of difficulty often described in the research literature.

Poster

02/17/2024
09:00 am - 10:15 am
Room: Majestic Complex (Posters 61-120)

Poster Session 10: Neurodevelopmental | Congenital Conditions

Final Abstract #70

Klinefelter Syndrome Case Series: Commonalities, Variability, and Developmental Course

Laura Nicholson, NorthShore University HealthSystem, Evanston, United States
Alexandra Kirsch, NorthShore University HealthSystem, Evanston, United States

Category: Genetics/Genetic Disorders

Keyword 1: language disorder
Keyword 2: neuropsychological assessment

Objective:

Klinefelter syndrome is the most prevalent chromosome condition among those assigned male at birth. While neurological etiology has not been firmly established, there are typically greater challenges in the domains of language, academic learning, mental health, social cognition, attention, and executive functioning. While there tends to be characteristic neuropsychological profiles, the degree of impairment across domains is highly variable and likely change across development. The current case series describes two children, one who recently underwent neuropsychological evaluation, one who was seen for three evaluations over time. This aim of this case series is to explore the commonalities and differences, as well as discuss developmental trajectory over time.

Participants and Methods:

This case study follows two children diagnosed with Klinefelter syndrome. Patient 1 was seen for an initial evaluation at age 4. Patient 2 has been seen for three neuropsychological evaluations at ages 9, 11, and 13. Patients underwent a full neuropsychological battery in an outpatient medical clinic in the Midwest. Medical records, intake interview, parent-, teacher-, and self-report (if appropriate) ratings scales, and performance-based measures were collected at each evaluation to characterize strengths and weaknesses.

Results:

Both patients were diagnosed with a language disorder after their first evaluation and showed better receptive versus expressive language profiles. Patient 1 could only say a few words, whereas patient 2 showed significant improvements over time and had no observable challenges by age 13, apart from parent-reported functional language. Patient 2 consistently demonstrated relative strengths in visual-spatial reasoning and processing speed. Due to language challenges, patient 1 was given a non-verbal cognitive functioning measure and demonstrated high average performance on subtests where he appeared appropriately engaged. Both patients showed challenges with attention and impulsivity, but an ADHD diagnosis was deferred in patient 1, whereas patient 2 was diagnosed at age 9. Only patient 1 showed fine motor delays. While patient 2 demonstrated average to exceptionally high performances across academic tasks, and patient 1 showed challenges with early learning concepts. In terms of mood, patient 1’s teachers reported challenges with emotional regulation, whereas patient 2 described anxiety. Both patients demonstrated social strengths overall.

Conclusions:

The findings of this case study warrant consideration by clinicians of the functional impairment related to Klinefelter syndrome and the commonalities and variability across symptom domains across ages. Both patients showed relative strengths in the domains of social functioning and visual-spatial reasoning. As was the case with patient 2, neuropsychologists have an important role in monitoring children with Klinefelter syndrome over time to observe improvements (e.g., in this case language) and increased challenges (e.g., anxiety), so that parents and teachers can be prepared to implement preventative efforts. In addition, given that it is estimated that only some patients with Klinefelter syndrome are diagnosed and therefore research characterizes more symptomatic cases, neuropsychologists should also be aware that not all patients will have difficulties across documented domains. For example, neither patient showed social challenges, an area of difficulty often described in the research literature.