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PACS1-Neurodevelopmental disorder: clinical features and trial readiness
Abigail Van Nuland1, Taruna Reddy2, Farhad Quassem2
1Division of Neurology, Epilepsy Center, Ann & Robert H. Lurie Children's Hospital of Chicago, 225 East Chicago Ave, Box 29, Chicago, IL, 60611-2605, USA.
Orphanet Journal of Rare Diseases
|September 14, 2021
Summary
PACS1-Neurodevelopmental Disorder (PACS1-NDD) is a rare condition impacting development. Most affected children achieve key milestones like walking and speaking, with epilepsy and autism not significantly affecting overall function.
Area of Science:
- Genetics
- Neuroscience
- Rare Diseases
Background:
- PACS1-Neurodevelopmental Disorder (PACS1-NDD) is an ultra-rare genetic condition.
- Limited data exists on the functional abilities and neurodevelopmental aspects of PACS1-NDD.
Purpose of the Study:
- To systematically collect data on functional abilities and neurodevelopmental morbidities in children with PACS1-NDD.
- To analyze the impact of epilepsy and autism on clinical features.
Main Methods:
- An online survey was collaboratively developed by researchers, parents, and clinicians.
- Data analysis focused on individuals with a confirmed R203W variant in the PACS1 gene.
Main Results:
- Of 35 individuals, 51% were female with a median age of 8 years.
- 49% had epilepsy, 40% autism, and 37% autism features.
- Most children achieved independent walking (91%), pincer grasp (72%), self-feeding (47%), and speech (72%).
- 55% had simple pre-academic skills; epilepsy and autism did not correlate with functional abilities.
Conclusions:
- PACS1-NDD presents as a moderate-to-severe intellectual disability syndrome.
- Seizures are common but not the primary defining feature of PACS1-NDD.
- Precision medicine trials require targeting core features and appropriate assessment tools for this population.
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