A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria: Implications for the Diagnosis of Genetic Causes.

Mutsuo KouhashiKayoko YukawaNaoko YanoMarne C HagemeijerShinya HirataDaisuke KambeAtsushi YokoyamaAkira YoshidaKengo KoraCorline J de RondeSandrien VrieswijkEric van der MeijdenTakeshi YoshidaHirofumi Yamashita

Published in: Neurology. Genetics (2024)

We discuss how to more readily achieve an accurate diagnosis for patients with undiagnosed intellectual disabilities. Medical practitioners' awareness of the characteristics of the disease leading to clinical suspicion in patients with matching presentations, and the performance of newborn screening when possible, is important for the diagnosis of ID. In addition, the characteristic symptoms and course of the disease give rise to suspicion of IMDs. Given our results, we consider trio-WES to be a powerful method for identifying the causative genes in cases of ID with genetic causes.

Keyphrases

intellectual disability
genome wide
autism spectrum disorder
healthcare
primary care
copy number
bioinformatics analysis