Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care.

Autor: Sanchez Russo R; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Gambello MJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Murphy MM; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Aberizk K; Department of Psychology, Emory University, Atlanta, GA, USA., Black E; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Burrell TL; Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.; Marcus Autism Center, Children's Healthcare of Atlanta and Emory University School of Medicine, Atlanta, GA, USA., Carlock G; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Cubells JF; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.; Department of Psychiatry and Behavioral Science, Emory University School of Medicine, Atlanta, GA, USA., Epstein MT; Department of Psychiatry and Behavioral Science, Emory University School of Medicine, Atlanta, GA, USA., Espana R; Department of Psychology, Emory University, Atlanta, GA, USA., Goines K; Department of Psychology, Emory University, Atlanta, GA, USA., Guest RM; Department of Psychology, Emory University, Atlanta, GA, USA., Klaiman C; Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.; Marcus Autism Center, Children's Healthcare of Atlanta and Emory University School of Medicine, Atlanta, GA, USA., Koh S; Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA., Leslie EJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Li L; Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.; Marcus Autism Center, Children's Healthcare of Atlanta and Emory University School of Medicine, Atlanta, GA, USA., Novacek DM; Department of Psychiatry and Biobehavioral Sciences, University of California, Los Angeles, CA, USA.; Desert Pacific Mental Illness, Research, Education, and Clinical Center, VA Greater Los Angeles Healthcare System, Los Angeles, CA, USA., Saulnier CA; Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.; Neurodevelopmental Assessment & Consulting Services, Atlanta, GA, USA., Sefik E; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.; Department of Psychology, Emory University, Atlanta, GA, USA., Shultz S; Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.; Marcus Autism Center, Children's Healthcare of Atlanta and Emory University School of Medicine, Atlanta, GA, USA., Walker E; Department of Psychology, Emory University, Atlanta, GA, USA., White SP; Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.; Marcus Autism Center, Children's Healthcare of Atlanta and Emory University School of Medicine, Atlanta, GA, USA., Mulle JG; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA. jmulle@emory.edu.; Department of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, GA, USA. jmulle@emory.edu.
Jazyk: angličtina
Zdroj: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 May; Vol. 23 (5), pp. 872-880. Date of Electronic Publication: 2021 Feb 09.
DOI: 10.1038/s41436-020-01053-1
Abstrakt: Purpose: To understand the consequences of the 3q29 deletion on medical, neurodevelopmental, psychiatric, brain structural, and neurological sequalae by systematic evaluation of affected individuals. To develop evidence-based recommendations using these data for effective clinical care.
Methods: Thirty-two individuals with the 3q29 deletion were evaluated using a defined phenotyping protocol and standardized data collection instruments.
Results: Medical manifestations were varied and reported across nearly every organ system. The most severe manifestations were congenital heart defects (25%) and the most common were gastrointestinal symptoms (81%). Physical examination revealed a high proportion of musculoskeletal findings (81%). Neurodevelopmental phenotypes represent a significant burden and include intellectual disability (34%), autism spectrum disorder (38%), executive function deficits (46%), and graphomotor weakness (78%). Psychiatric illness manifests across the lifespan with psychosis prodrome (15%), psychosis (20%), anxiety disorders (40%), and attention deficit-hyperactivity disorder (ADHD) (63%). Neuroimaging revealed structural anomalies of the posterior fossa, but on neurological exam study subjects displayed only mild or moderate motor vulnerabilities.
Conclusion: By direct evaluation of 3q29 deletion study subjects, we document common features of the syndrome, including a high burden of neurodevelopmental and neuropsychiatric phenotypes. Evidence-based recommendations for evaluation, referral, and management are provided to help guide clinicians in the care of 3q29 deletion patients.
Databáze: MEDLINE
Externí odkaz: