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 #77 The Neuropsychological Profile of a Female with Danon Disease: A Case Study Joanna Peters, Levine Children's Hospital, Atrium Health, Charlotte, United States Sofia Ladley, Tulane University, New Orleans, United States Analise Ney, The University of North Carolina at Chapel Hill, Chapel Hill, United States Category: Genetics/Genetic Disorders Keyword 1: genetic disorders Keyword 2: pediatric neuropsychology Objective: Danon disease (DD) is a rare X-linked lysosomal storage disorder caused by a mutation in the LAMP2 gene and characterized by cognitive disabilities, cardiomyopathy, skeletal myopathy, and retinal dystrophies in males. The female phenotype of DD remains poorly understood but typically involves a milder course with cardiac symptoms emerging in adolescence or adulthood and slower disease progression. Existing literature on cognitive and psychiatric outcomes in DD remains limited, largely examining males and consisting of exclusively IQ testing, questionnaires, and/or a computerized battery. This case study presents serial neuropsychological data of an adolescent female with DD. Participants and Methods: Here we describe a right-handed, Caucasian female diagnosed with retinitis pigmentosa at age 11 years who presented in congestive heart failure due to hypertrophic cardiomyopathy requiring heart transplant at age 14 years. Genetic testing subsequently confirmed DD. She had a longstanding history of academic difficulty and was previously diagnosed with ADHD. She underwent school psychoeducational testing at age 10 years (T1), then participated in comprehensive neuropsychological evaluations at 1- and 3-years post-transplant at ages 15 and 17, respectively (T2 and T3). Comprehensive neuropsychological batteries were administered under the supervision of the primary author. Results: Per school documentation, at T1 the child demonstrated low average intelligence (DAS-II GCA=83), which declined to below average intellect at T2 and T3 (WISC-5 FSIQ=72, WAIS-IV FSIQ=75). Processing speed improved between T2 and T3 (PSI=75, 84). Academically, math skills were more greatly impacted (KTEA Math SS=77 at T1, WJ-IV Broad Math=69 at T2, T3), though reading skills were also generally below average. She met diagnostic criteria for specific learning disorders with impairment in mathematics and reading. Attention limitations were evident at T2 and T3. Parent report suggested significant executive dysfunction at T2 and T3 (BRIEF-2 GEC=67, 73), which was evident to a lesser degree on performance-based testing. Adaptive functioning was below average (ABAS-III GAC=75 at T2, T3). Marked social limitations were evident and reportedly longstanding. Anxiety and depressive symptoms were emerging at T2, but significantly worsened by T3 warranting major depressive disorder diagnosis. She demonstrated significant somatic symptoms at T2 that culminated in conversion disorder diagnosis by T3. Personality assessment at T3 suggested borderline personality features. Conclusions: The adolescent presented with DD symptoms younger, and with more rapidly progressing cardiac symptoms, than typically reported in females with DD. Existing literature on female cognitive outcomes is quite limited but generally suggests mild if any cognitive impact. However, this patient demonstrated marked intellectual and academic limitations, with some suggestion of decline following heart transplant. Additional results revealed weaknesses in attention, executive functioning, social skills, and adaptive functioning, as well as anxiety, depression, and somatic symptoms that worsened substantially between T2 and T3. Although DD is a rare condition, further research at the group level is sorely needed to further characterize the neuropsychological profile of individuals with DD across the lifespan and in relation to symptom onset as well as further examine gender differences.

Poster

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

Poster Session 10: Neurodevelopmental | Congenital Conditions

Final Abstract #77

The Neuropsychological Profile of a Female with Danon Disease: A Case Study

Joanna Peters, Levine Children's Hospital, Atrium Health, Charlotte, United States
Sofia Ladley, Tulane University, New Orleans, United States
Analise Ney, The University of North Carolina at Chapel Hill, Chapel Hill, United States

Category: Genetics/Genetic Disorders

Keyword 1: genetic disorders
Keyword 2: pediatric neuropsychology

Objective:

Danon disease (DD) is a rare X-linked lysosomal storage disorder caused by a mutation in the LAMP2 gene and characterized by cognitive disabilities, cardiomyopathy, skeletal myopathy, and retinal dystrophies in males. The female phenotype of DD remains poorly understood but typically involves a milder course with cardiac symptoms emerging in adolescence or adulthood and slower disease progression. Existing literature on cognitive and psychiatric outcomes in DD remains limited, largely examining males and consisting of exclusively IQ testing, questionnaires, and/or a computerized battery. This case study presents serial neuropsychological data of an adolescent female with DD.

Participants and Methods:

Here we describe a right-handed, Caucasian female diagnosed with retinitis pigmentosa at age 11 years who presented in congestive heart failure due to hypertrophic cardiomyopathy requiring heart transplant at age 14 years. Genetic testing subsequently confirmed DD. She had a longstanding history of academic difficulty and was previously diagnosed with ADHD. She underwent school psychoeducational testing at age 10 years (T1), then participated in comprehensive neuropsychological evaluations at 1- and 3-years post-transplant at ages 15 and 17, respectively (T2 and T3). Comprehensive neuropsychological batteries were administered under the supervision of the primary author.

Results:

Per school documentation, at T1 the child demonstrated low average intelligence (DAS-II GCA=83), which declined to below average intellect at T2 and T3 (WISC-5 FSIQ=72, WAIS-IV FSIQ=75). Processing speed improved between T2 and T3 (PSI=75, 84). Academically, math skills were more greatly impacted (KTEA Math SS=77 at T1, WJ-IV Broad Math=69 at T2, T3), though reading skills were also generally below average. She met diagnostic criteria for specific learning disorders with impairment in mathematics and reading. Attention limitations were evident at T2 and T3. Parent report suggested significant executive dysfunction at T2 and T3 (BRIEF-2 GEC=67, 73), which was evident to a lesser degree on performance-based testing. Adaptive functioning was below average (ABAS-III GAC=75 at T2, T3). Marked social limitations were evident and reportedly longstanding. Anxiety and depressive symptoms were emerging at T2, but significantly worsened by T3 warranting major depressive disorder diagnosis. She demonstrated significant somatic symptoms at T2 that culminated in conversion disorder diagnosis by T3. Personality assessment at T3 suggested borderline personality features.

Conclusions:

The adolescent presented with DD symptoms younger, and with more rapidly progressing cardiac symptoms, than typically reported in females with DD. Existing literature on female cognitive outcomes is quite limited but generally suggests mild if any cognitive impact. However, this patient demonstrated marked intellectual and academic limitations, with some suggestion of decline following heart transplant. Additional results revealed weaknesses in attention, executive functioning, social skills, and adaptive functioning, as well as anxiety, depression, and somatic symptoms that worsened substantially between T2 and T3. Although DD is a rare condition, further research at the group level is sorely needed to further characterize the neuropsychological profile of individuals with DD across the lifespan and in relation to symptom onset as well as further examine gender differences.