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Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review.


ABSTRACT:

Background

Advances in understanding the etiology of intellectual disability (ID) has led to insights in potential (targeted) treatments and personalized care. Implications of ID on health are often complex and require a multidisciplinary approach. The aim was to investigate the reporting of genetic diagnoses in multidisciplinary ID care and to identify associated clinical and demographic factors.

Methods

A retrospective chart review was performed on a randomly selected sample of individuals (n = 380) of a large ID care organization in the Netherlands. Data on genetic etiology, including genetic testing and diagnoses, and clinical and demographic characteristics were collected from files held by multidisciplinary team members.

Results

Reports on genetic etiology were

SUBMITTER: Muller AR 

PROVIDER: S-EPMC11403852 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature