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Published on: September 19, 2019
Parental-reported neurodevelopmental issues in Loeys-Dietz syndrome
R T Collins1, J M Flor2, X Tang3
1University of Arkansas for Medical Sciences Department of Internal Medicine and Department of Pediatrics, Division of Cardiology, and Arkansas Children's Hospital, Little Rock, AR.
Background:
Loeys-Dietz syndrome (LDS) is a congenital multisystem disorder affecting the cardiovascular and musculoskeletal system. Limited data have reported neurodevelopmental (ND) issues in LDS.
Aims:
To determine the extent of ND issues in patients with LDS.
Methods:
A prospective study was performed of LDS patients or their caregivers. The study included data collected via an online survey of age-specific questions. Standard statistical methods were used for baseline and demographic characteristics, as well as group comparisons.
Outcomes:
Data were obtained from 67 patients with LDS (54% female). Median age was 14.9 years. Gene mutations included TGFBR1 (39%), TGFBR2 (40%), SMAD3 (7%), and unknown (14%). Motor delays (30%, 18/61) and hypotonia (63%, 37/60) occurred frequently. Physical (62%, 39/62), occupational (41%, 23/56), and speech therapies (34%, 20/58) were common. Feeding issues were common (41%, 23/56). TGFBR1 mutations were more frequent among those with motor delays and feeding issues.
Conclusions:
Patients with LDS and/or their caregivers report at least one ND problem in most cases, and many require therapies. These data suggest ND disorders should be considered to be part of the phenotype.
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