R T Collins1, J M Flor2, X Tang3, J M Bange4, Y A Zarate5. 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.
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.
Authors: Francesco Baldo; Laura Morra; Agnese Feresin; Flavio Faletra; Yasmin Al Naber; Luigi Memo; Laura Travan Journal: Ital J Pediatr Date: 2022-06-06 Impact factor: 3.288