Abstract
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.
| Original language | English |
|---|---|
| Pages (from-to) | 153-159 |
| Number of pages | 7 |
| Journal | Research in Developmental Disabilities |
| Volume | 83 |
| DOIs | |
| State | Published - Dec 2018 |
Bibliographical note
Publisher Copyright:© 2018 Elsevier Ltd
Funding
This study was fundedvia a grant from the Katherine and Ryan Palludan Memorial Organization . The authors wish to thank the Loeys-Dietz Syndrome Foundation for their assistance in contacting potential study participants.
| Funders |
|---|
| Katherine and Ryan Palludan Memorial Organization |
Keywords
- Feeding
- Loeys-Dietz syndrome
- Motor delay
- Neurodevelopmental
- Physical therapy
ASJC Scopus subject areas
- Developmental and Educational Psychology
- Clinical Psychology