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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.

Research in Developmental Disabilities
|September 14, 2018
PubMed

Insights

Most Loeys-Dietz syndrome (LDS) patients experience neurodevelopmental (ND) issues, often requiring therapies. These findings highlight the importance of considering ND disorders within the LDS phenotype.

Area of Science:

  • Genetics
  • Pediatrics
  • Neurology

Background:

  • Loeys-Dietz syndrome (LDS) is a genetic disorder impacting multiple body systems.
  • Existing research on neurodevelopmental (ND) issues in LDS is limited.

Purpose of the Study:

  • To investigate the prevalence and spectrum of ND issues in patients diagnosed with LDS.

Main Methods:

  • A prospective online survey was administered to LDS patients and their caregivers.
  • Data included age-specific questions on ND development.
  • Statistical analyses were performed for demographic and outcome comparisons.

Main Results:

  • 67 LDS patients (54% female, median age 14.9 years) participated.
  • Common ND issues included motor delays (30%) and hypotonia (63%).
  • Therapies (physical, occupational, speech) and feeding issues were frequent, with some linked to TGFBR1 mutations.

Conclusions:

  • The majority of LDS patients report at least one ND problem.
  • Therapeutic interventions are frequently needed for these ND issues.
  • ND disorders should be recognized as a significant component of the LDS phenotype.
Abstract

Keywords:
FeedingLoeys-Dietz syndromeMotor delayNeurodevelopmentalPhysical therapy

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