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Observational Study
. 2018 Jul:198:226-233.e3.
doi: 10.1016/j.jpeds.2018.02.076. Epub 2018 Apr 22.

Neurodevelopment of Infants with and without Craniofacial Microsomia

Matthew L Speltz  1 , Kathleen A Kapp-Simon  2 , Alexis L Johns  3 , Erin R Wallace  4 , Brent R Collett  5 , Leanne Magee  6 , Brian G Leroux  7 , Daniela V Luquetti  5 , Carrie L Heike  5
Affiliations
Observational Study

Neurodevelopment of Infants with and without Craniofacial Microsomia

Matthew L Speltz et al. J Pediatr. 2018 Jul.

Abstract

Objectives: To determine whether infant cases with craniofacial microsomia (CFM) evidence poorer neurodevelopmental status than demographically similar infants without craniofacial diagnoses ("controls"), and to examine cases' neurodevelopmental outcomes by facial phenotype and hearing status.

Study design: Multicenter, observational study of 108 cases and 84 controls aged 12-24 months. Participants were assessed by the Bayley Scales of Infant and Toddler Development-Third Edition and the Preschool Language Scales-Fifth Edition (PLS-5). Facial features were classified with the Phenotypic Assessment Tool for Craniofacial Microsomia.

Results: After adjustment for demographic variables, there was little difference in Bayley Scales of Infant and Toddler Development-Third Edition or Preschool Language Scales-Fifth Edition outcomes between cases and controls. Estimates of mean differences ranged from -0.23 to 1.79 corresponding to standardized effect sizes of -.02 to 0.12 (P values from .30 to .88). Outcomes were better among females and those with higher socioeconomic status. Among cases, facial phenotype and hearing status showed little to no association with outcomes. Analysis of individual test scores indicated that 21% of cases and 16% of controls were developmentally delayed (OR 0.68, 95% CI 0.29-1.61).

Conclusions: Although learning problems have been observed in older children with CFM, we found no evidence of developmental or language delay among infants. Variation in outcomes across prior studies may reflect differences in ascertainment methods and CFM diagnostic criteria.

Keywords: facial phenotype; hemifacial; neurocognitive.

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Figures

Figure 1
Figure 1
Eligibility Criteria for the CLOCK study
See this image and copyright information in PMC

References

    1. Gorlin RJ, Cohen MJ, Hennekan RCM. Syndromes of the head and neck. 4. New York: Oxford University Press; 2001.
    1. Heike CL, Luquetti DV, Hing AV. Craniofacial microsomia overview. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, et al., editors. GeneReviews((R)) Seattle (WA): University of Washington, Seattle; 2014. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved. - PubMed
    1. Barisic I, Odak L, Loane M, Garne E, Wellesley D, Calzolari E, et al. Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: A registry-based study in Europe. Eur J Hum Genet. 2014 Aug;22:1026–33. - PMC - PubMed
    1. Harris J, Kallen B, Robert E. The epidemiology of anotia and microtia. Journal of Medical Genetics. 1996;33:809–13. - PMC - PubMed
    1. Luquetti DV, Leoncini E, Mastroiacovo P. Microtia-anotia: A global review of prevalence rates. Birth Defects Res A Clin Mol Teratol. 2011 Sep;91:813–22. - PMC - PubMed

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