%0 Journal Article
%T PACS1-Neurodevelopmental disorder: clinical features and trial readiness.
%A Van Nuland A
%A Reddy T
%A Quassem F
%A Vassalli JD
%A Berg AT
%J Orphanet J Rare Dis
%V 16
%N 1
%D 09 2021 13
%M 34517877
%F 4.303
%R 10.1186/s13023-021-02001-1
%X 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.<BR>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).<BR>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.