2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Episodic irritability in an ultra-rare genetic disorder associated with <em>NACC1</em>: imperative to increase awareness and formulate better therapeutic interventions

Episodic irritability in an ultra-rare genetic disorder associated with NACC1: imperative to increase awareness and formulate better therapeutic interventions

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This document discusses a study on individuals with a neurodevelopmental disorder caused by a genetic variant in NACC1. These individuals experience episodes of extreme irritability, which can be incapacitating and require medical intervention. The episodes have a significant impact on the affected child and their family. The study analyzed parent narratives to understand the triggers, behavioral changes, and treatments of these episodes. Psychotropic medications were reported to be the most effective in managing the symptoms during the peak phase of the episodes. The study also found that all individuals had scores indicating pain behaviors, suggesting possible paroxysmal sympathetic hyperactivity. The episodes were described as having prodromal, peak, and resolving phases, with vocalizations, abnormal movements, and signs of agitation increasing during the peak phase. The episodes typically end with sleep and tiredness. The frequency and duration of the episodes varied among individuals. While some parents noted improvement over time, no consistent triggers were identified. Various medications were used to manage different symptoms during the episodes, including painkillers, psychotropic medications, gastrointestinal medications, and anti-adrenergic medications. The episodes have a significant emotional impact on families. Support from the medical community is crucial for these families.

Asset Subtitle

Presenting Author - Kelly Schoch, MS, CGC; Co-Author - Allyn McConkie-Rosell, PhD; Co-Author - Nicole Walley, MS; Co-Author - Vikas Bhambhani, MD; Co-Author - Timothy Feyma, MD; Co-Author - Edward C. Smith, MD; Co-Author - Khoon Ghee Queenie Tan, MD, PhD, FACMG; Co-Author - Vandana Shashi, MD;

Meta Tag

Delineation of Diseases

Genotype-Phenotype Correlations

Natural History

Phenotypic delineation of disorders

Co-Author Allyn McConkie-Rosell, PhD

Co-Author Nicole Walley, MS

Co-Author Vikas Bhambhani, MD

Co-Author Timothy Feyma, MD

Co-Author Edward C. Smith, MD

Co-Author Khoon Ghee Queenie Tan, MD, PhD, FACMG

Co-Author Vandana Shashi, MD

Presenting Author Kelly Schoch, MS, CGC

Keywords

neurodevelopmental disorder

genetic variant

NACC1

extreme irritability

medical intervention

parent narratives

triggers

behavioral changes

treatments

psychotropic medications