Parental-reported neurodevelopmental issues in Loeys-Dietz syndrome.
Expect motor and feeding issues in Loeys-Dietz syndrome—screen early and line up PT, OT, and SLP.
01Research in Context
What this study did
Parents of 67 children with Loeys-Dietz syndrome filled out a survey.
They answered questions about motor skills, feeding, and therapy use.
What they found
Most kids had low muscle tone, late motor milestones, and feeding trouble.
Many were already in physical, occupational, or speech therapy.
How this fits with other research
Westendorp et al. (2014) tracked kids with learning disorders and saw the same 3- to 4-year motor lag.
Chiviacowsky et al. (2013) found that children sent for language help also scored low on motor tests.
Together these studies say: when a rare or primary diagnosis appears, always screen the motor system.
Why it matters
You may not see Loeys-Dietz every day, but the rule still holds. A new genetic or medical label should trigger a quick motor, feeding, and speech checklist. Build referrals into your intake form so nothing is missed.
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02At a glance
03Original 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.
Research in developmental disabilities, 2018 · doi:10.1016/j.ridd.2018.08.003