Neuropsychological Characterization of Autosomal Recessive Intellectual Developmental Disorder 59 Associated with IMPA1 (MRT59)

Biallelic loss of function IMPA1 causes autosomal recessive intellectual developmental disorder 59 (MRT59, OMIM #617323). MRT59 has been reported to present with significant disability and disruptive behavior, but little is known about the neurocognitive pattern those patients. Thus, aims this study were: (1) assess cognitive profile these patients, (2) evaluate their functional dependence levels. Eighteen adults, aged 37 89 years, participated in study: nine five heterozygous carriers four non-carrier family members. All them were from a consanguineous living Northeast Brazil. patients had (c.489_493dupGGGCT) pathogenic variant homozygosis. For assessment, WASI battery was applied compared Functional evaluated using independence measure (FIM). Patients showed moderate severe disabilities. Heterozygous did not differ non-carriers. should be followed up by health professionals an interdisciplinary way understand disabilities needs properly.