PACS1-Neurodevelopmental disorder: clinical features and trial readiness

Abigail Van Nuland, Taruna Reddy, Farhad Quassem, Jean Dominique Vassalli, Anne T. Berg*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

Abstract

Background: PACS1-Neurodevelopmental Disorder (PACS1-NDD) is an ultra-rare condition due to a recurrent mutation in the PACS1 gene. Little systematically collected data exist about the functional abilities and neurodevelopmental morbidities in children with PACS1-NDD Methods: Parents of individuals with PACS1-NDD completed an on-line survey designed collaboratively by researchers, parents, and clinicians. Analyses focused on those with a confirmed R203W variant. Results: Of 35 individuals with confirmed variants, 18 (51%) were female. The median age was 8 years (interquartile range 4.5–15). Seventeen (49%) had a diagnosis of epilepsy. Twelve (40%, of 30 responding to the question) reported autism and (N = 11/30, 37%) reported features of autism. Most children walked independently (N = 29/32, 91%), had a pincer grasp (N = 23/32, 72%), could feed themselves independently (N = 15/32, 47%), and used speech (N = 23/32, 72%). Sixteen of twenty-nine (55%) had simple pre-academic skills. Neither epilepsy nor autism was associated with functional abilities or other clinical features (all P > 0.05). Conclusions: PACS1-NDD is a moderately-severe intellectual disability syndrome in which seizures occur but are not a defining or primary feature. Successful precision medicine clinical trials for this ultra-rare disorder must target important core features of this disorder and utilize assessment tools commensurate with the level of function in this clinical population.

Original languageEnglish (US)
Article number386
JournalOrphanet journal of rare diseases
Volume16
Issue number1
DOIs
StatePublished - Dec 2021

Keywords

  • Autism
  • Epilepsy
  • Neurodevelopment
  • PACS1
  • Precision medicine
  • Schuurs-Hoeijmakers syndrome
  • Trial readiness

ASJC Scopus subject areas

  • Genetics(clinical)
  • Pharmacology (medical)

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