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 #48 Expanding the Clinical Understanding of Neuropsychological Profiles in Individuals with Chromosome Ring 14 Syndrome Morgan Jolliffe, Childrens Hospital Colorado, Aurora, United States Megan Stringfellow, Childrens Hospital Colorado, Aurora, United States Kelly Wentworth, Global Genes, Chicago, United States Yssa DeWoody, Ring 14 USA, Midland-Odessa, United States Vanessa Vogel-Farley, RARE-X, Chicago, United States Scott Demarest, Childrens Hospital Colorado, Aurora, United States Andrea Miele, Childrens Hospital Colorado, Aurora, United States Category: Genetics/Genetic Disorders Keyword 1: genetic disorders Keyword 2: epilepsy / seizure disorders Keyword 3: intellectual disability Objective: Ring 14 syndrome is an ultra-rare chromosomal disorder whose developmental trajectory is not yet clearly defined. The Ring 14 is currently characterized clinically by early onset of intractable epilepsy, developmental delays, severe intellectual disability (ID), autistic traits, hyperactivity, and aggression. Existing literature is limited to less than 100 cases documented worldwide; thus, there is a dearth of information available on the neuropsychological outcomes. Here we broaden the developmental phenotype both to inform expectations for families and to facilitate earlier diagnosis and intervention. Participants and Methods: A total of 10 individuals (age range 4-39 years, mean=17.05 years); 60% female; 80% Caucasian) participated in visits in a clinical setting at Children’s Hospital Colorado (n=4) or in a research setting at the Taking Flight Ring 14 Family Conference (n=6). As part of either visit, individuals completed developmental testing using the Mullen Scales of Early Learning, as well as several parent-reported questionnaires including the Vineland-3, SRS-2, and BASC-3. Information was also gathered regarding seizure semiology. Results: While 100% of the participants met criteria for ID and epilepsy, several interesting trends emerged. First, on the Mullen, receptive language skills ranged from 1-59 months (Vineland-3 age equivalent (AE)=11-34 months); expressive language skills ranged from 1-50 months (Vineland-3 AE=5-37 months); gross motor skills ranged from 2->33 months (Vineland-3 AE=7-28 months); and fine motor skills ranged from 1-47 months (Vineland-3 AE=7-42 months). Further, 90% of individuals demonstrated higher receptive than expressive language skills on the Mullen. Fine motor skills were also generally stronger than gross motor skills across most participants on the Mullen and across all participants on the Vineland-3. Second, standard scores on the Vineland-3 were highest in the two youngest participants (ages 4-5; SS=66-73), with a wider range in school aged participants (ages 10-20; SS=23-61), and the lowest in oldest participants (ages 21-39; SS=21-28). Third, results from the SRS-2 revealed increased restricted interests and repetitive behaviors (RRBs) in younger participants and comparable deficits in social communication and RRBs in older participants. Lastly, across groups, aggression was reported in 100% of participants and attention problems in 80%, though fewer concerns for other psychiatric symptoms were endorsed (20% for symptoms of anxiety and OCD; 0% depression, bipolar, or psychosis). Conclusions: Our findings enhance existing literature and broaden the understanding of the chromosome Ring 14 syndrome. To our knowledge, this is the largest sample of quantitative neuropsychological data to date. While scores fell entirely in the ID range, there was more variability than previously reported. The strongest language skills were around 5 years and the strongest motor skills were around 4 years. Age did not seem to correlate with developmental level as some of the highest skills were demonstrated in our younger participants. Consistently, some families reported clear regression captured through home videos. Higher levels of independence for younger individuals may also indicate increased access to therapies and AAC devices. Therefore, future longitudinal studies should potentially integrate additional sources of data to better capture this developmental arc. Hopefully these findings will contribute to more informed therapeutic interventions that optimize these children’s individual strengths.

Poster

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

Poster Session 10: Neurodevelopmental | Congenital Conditions

Final Abstract #48

Expanding the Clinical Understanding of Neuropsychological Profiles in Individuals with Chromosome Ring 14 Syndrome

Morgan Jolliffe, Childrens Hospital Colorado, Aurora, United States
Megan Stringfellow, Childrens Hospital Colorado, Aurora, United States
Kelly Wentworth, Global Genes, Chicago, United States
Yssa DeWoody, Ring 14 USA, Midland-Odessa, United States
Vanessa Vogel-Farley, RARE-X, Chicago, United States
Scott Demarest, Childrens Hospital Colorado, Aurora, United States
Andrea Miele, Childrens Hospital Colorado, Aurora, United States

Category: Genetics/Genetic Disorders

Keyword 1: genetic disorders
Keyword 2: epilepsy / seizure disorders
Keyword 3: intellectual disability

Objective:

Ring 14 syndrome is an ultra-rare chromosomal disorder whose developmental trajectory is not yet clearly defined. The Ring 14 is currently characterized clinically by early onset of intractable epilepsy, developmental delays, severe intellectual disability (ID), autistic traits, hyperactivity, and aggression. Existing literature is limited to less than 100 cases documented worldwide; thus, there is a dearth of information available on the neuropsychological outcomes. Here we broaden the developmental phenotype both to inform expectations for families and to facilitate earlier diagnosis and intervention.

Participants and Methods:

A total of 10 individuals (age range 4-39 years, mean=17.05 years); 60% female; 80% Caucasian) participated in visits in a clinical setting at Children’s Hospital Colorado (n=4) or in a research setting at the Taking Flight Ring 14 Family Conference (n=6). As part of either visit, individuals completed developmental testing using the Mullen Scales of Early Learning, as well as several parent-reported questionnaires including the Vineland-3, SRS-2, and BASC-3. Information was also gathered regarding seizure semiology.

Results:

While 100% of the participants met criteria for ID and epilepsy, several interesting trends emerged. First, on the Mullen, receptive language skills ranged from 1-59 months (Vineland-3 age equivalent (AE)=11-34 months); expressive language skills ranged from 1-50 months (Vineland-3 AE=5-37 months); gross motor skills ranged from 2->33 months (Vineland-3 AE=7-28 months); and fine motor skills ranged from 1-47 months (Vineland-3 AE=7-42 months). Further, 90% of individuals demonstrated higher receptive than expressive language skills on the Mullen. Fine motor skills were also generally stronger than gross motor skills across most participants on the Mullen and across all participants on the Vineland-3. Second, standard scores on the Vineland-3 were highest in the two youngest participants (ages 4-5; SS=66-73), with a wider range in school aged participants (ages 10-20; SS=23-61), and the lowest in oldest participants (ages 21-39; SS=21-28). Third, results from the SRS-2 revealed increased restricted interests and repetitive behaviors (RRBs) in younger participants and comparable deficits in social communication and RRBs in older participants. Lastly, across groups, aggression was reported in 100% of participants and attention problems in 80%, though fewer concerns for other psychiatric symptoms were endorsed (20% for symptoms of anxiety and OCD; 0% depression, bipolar, or psychosis).

Conclusions:

Our findings enhance existing literature and broaden the understanding of the chromosome Ring 14 syndrome. To our knowledge, this is the largest sample of quantitative neuropsychological data to date. While scores fell entirely in the ID range, there was more variability than previously reported. The strongest language skills were around 5 years and the strongest motor skills were around 4 years. Age did not seem to correlate with developmental level as some of the highest skills were demonstrated in our younger participants. Consistently, some families reported clear regression captured through home videos. Higher levels of independence for younger individuals may also indicate increased access to therapies and AAC devices. Therefore, future longitudinal studies should potentially integrate additional sources of data to better capture this developmental arc. Hopefully these findings will contribute to more informed therapeutic interventions that optimize these children’s individual strengths.