Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care.
Genet Med
; 23(5): 872-880, 2021 05.
Article
en En
| MEDLINE
| ID: mdl-33564151
ABSTRACT
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.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Trastornos Psicóticos
/
Trastorno del Espectro Autista
/
Discapacidad Intelectual
Tipo de estudio:
Diagnostic_studies
/
Guideline
Límite:
Child
/
Humans
Idioma:
En
Año:
2021
Tipo del documento:
Article