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Res Dev Disabil. 2018 Dec;83:153-159. doi: 10.1016/j.ridd.2018.08.003. Epub 2018 Sep 10.

Parental-reported neurodevelopmental issues in Loeys-Dietz syndrome.

Author information

1
University of Arkansas for Medical Sciences Department of Internal Medicine and Department of Pediatrics, Division of Cardiology, and Arkansas Children's Hospital, Little Rock, AR. Electronic address: tomcollins@stanford.edu.
2
University of Arkansas for Medical Sciences Department of Pediatrics, Division of Developmental Pediatrics, and Arkansas Children's Hospital, Little Rock, AR.
3
University of Arkansas for Medical Sciences Department of Pediatrics, and Arkansas Children's Hospital, Little Rock, AR.
4
Louisiana State University Health Sciences Center School of Allied Health, Shreveport, LA.
5
University of Arkansas for Medical Sciences Department of Pediatrics, Section of Genetics and Metabolism, and Arkansas Children's Hospital, Little Rock, AR.

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.

KEYWORDS:

Feeding; Loeys-Dietz syndrome; Motor delay; Neurodevelopmental; Physical therapy

PMID:
30212788
DOI:
10.1016/j.ridd.2018.08.003
[Indexed for MEDLINE]

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