Dataset Information

An Unusual Psychiatric Presentation of the 3q29 Microduplication Syndrome.

ABSTRACT: The 3q29 microduplication syndrome is usually associated with an intellectual disability or global developmental delay and mild dysmorphisms. Other comorbid presentations reported in the literature include psychiatric disorders such as behavioral disorders, attention-deficit/hyperactivity disorders, elimination disorders, and autism spectrum disorders. The current case is of an adolescent girl with the 3q29 microduplication syndrome who had a diverse psychiatric presentation. The patient was a 14-year-old girl in institutional care, with a moderate intellectual developmental disorder, major behavioral problems, with auto- and hetero-aggressions and a suspicious trait, who presented with frequent episodes of emotional dysregulation, disorganized speech with derailment, incoherence, perseveration and grossly disorganized behavior. Auditory hallucinations were suspected sometimes but were difficult to evaluate. In our assessment, we were not able to determine a diagnosis because the symptoms do not seem to be defined by any classification. Major pharmacological and non-pharmacological interventions were needed to manage this case.

SUBMITTER: Reis F

PROVIDER: S-EPMC7138485 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

An Unusual Psychiatric Presentation of the 3q29 Microduplication Syndrome.

Reis Filipa F Pereira Cristina C Laureano Maria M Cartaxo Teresa T

Cureus 20200308 3

The 3q29 microduplication syndrome is usually associated with an intellectual disability or global developmental delay and mild dysmorphisms. Other comorbid presentations reported in the literature include psychiatric disorders such as behavioral disorders, attention-deficit/hyperactivity disorders, elimination disorders, and autism spectrum disorders. The current case is of an adolescent girl with the 3q29 microduplication syndrome who had a diverse psychiatric presentation. The patient was a 1 ...[more]

PMID: 32269882

Similar Datasets

Project description:Background3q29 deletion syndrome is caused by a recurrent hemizygous 1.6 Mb deletion on the long arm of chromosome 3. The syndrome is rare (1 in 30,000 individuals) and is associated with mild to moderate intellectual disability, increased risk for autism and anxiety, and a 40-fold increased risk for schizophrenia, along with a host of physical manifestations. However, the disorder is poorly characterized, the range of manifestations is not well described, and the underlying molecular mechanism is not understood. We designed the Emory 3q29 Project to document the range of neurodevelopmental and psychiatric manifestations associated with 3q29 deletion syndrome. We will also create a biobank of samples from our 3q29 deletion carriers for mechanistic studies, which will be a publicly-available resource for qualified investigators. The ultimate goals of our study are three-fold: first, to improve management and treatment of 3q29 deletion syndrome. Second, to uncover the molecular mechanism of the disorder. Third, to enable cross-disorder comparison with other rare genetic syndromes associated with neuropsychiatric phenotypes.MethodsWe will ascertain study subjects, age 6 and older, from our existing registry ( 3q29deletion.org ). Participants and their families will travel to Atlanta, GA for phenotypic assessments, with particular emphasis on evaluation of anxiety, cognitive ability, autism symptomatology, and risk for psychosis via prodromal symptoms and syndromes. Evaluations will be performed using standardized instruments. Structural, diffusion, and resting-state functional MRI data will be collected from eligible study participants. We will also collect blood from the 3q29 deletion carrier and participating family members, to be banked at the NIMH Repository and Genomics Resource (NRGR).DiscussionThe study of 3q29 deletion has the potential to transform our understanding of complex disease. Study of individuals with the deletion may provide insights into long term care and management of the disorder. Our project describes the protocol for a prospective study of the behavioral and clinical phenotype associated with 3q29 deletion syndrome. The paradigm described here could easily be adapted to study additional CNV or single gene disorders with high risk for neuropsychiatric phenotypes, and/or transferred to other study sites, providing a means for data harmonization and cross-disorder analysis.

Dataset Information

An Unusual Psychiatric Presentation of the 3q29 Microduplication Syndrome.

Publications

An Unusual Psychiatric Presentation of the 3q29 Microduplication Syndrome.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets