Asymptomatic macrocephaly: to scan or not to scan

Thomas, Claire N.; Kolbe, Amy B.; Binkovitz, Larry A.; McDonald, Jennifer S.; Thomas, Kristen B.

doi:10.1007/s00247-020-04907-7

Cited by 6 publications

(4 citation statements)

References 10 publications

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“…Ultrasound is a common imaging modality used in pediatrics because of the lack of ionizing radiation and the high resolution of most current ultrasound machines. During the neonatal period, ultrasound is often used to follow up on prenatal findings, evaluate clinical concerns, and document known anomalies or as a baseline for determining the need for ongoing care [16,17]. These indications are important for diagnosing and documenting potential clinical concerns.…”

Section: Introductionmentioning

confidence: 99%

Sociodemographic and Appointment Factors Affecting Missed Opportunities to Provide Neonatal Ultrasound Imaging

Mateo

Johnston

Wilkinson

et al. 2022

Journal of the American College of Radiology

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Purpose: The aim of this study was to assess disparities in outpatient imaging missed care opportunities (IMCOs) for neonatal ultrasound by sociodemographic and appointment factors at a large urban pediatric hospital.Methods: A retrospective review was performed among patients aged 0 to 28 days receiving one or more outpatient appointments for head, hip, renal, or spine ultrasound at the main hospital or satellite sites from 2008 to 2018. An IMCO was defined as a missed ultrasound or cancellation <24 hours in advance. Population-average correlated logistic regression modeling estimated the odds of IMCOs for six sociodemographic (age, sex, race/ethnicity, language, insurance, and region of residence) and seven appointment (type of ultrasound, time, day, season, site, year, and distance to appointment) factors. The primary analysis included unknown values as a separate category, and the secondary analysis used multiple imputation to impute genuine categories from unknown variables. Results:The data set comprised 5,474 patients totaling 6,803 ultrasound appointments. IMCOs accounted for 4.4% of appointments. IMCOs were more likely for Black (odds ratio [OR], 3.31; P < .001) and other-race neonates (OR, 2.66; P < .001) and for patients with public insurance (OR, 1.78; P ¼ .002). IMCOs were more likely for appointments at the main hospital compared with satellites (P < .001), during work hours (P ¼ .021), and on weekends (P < .001). Statistical significance for primary and secondary analyses was quantitatively similar and qualitatively identical.Conclusions: Marginalized racial groups and those with public insurance had a higher rate of IMCOs in neonatal ultrasound. This likely represents structural inequities faced by these communities, and more research is needed to identify interventions to address these inequities in care delivery for vulnerable neonatal populations.

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Section: Introductionmentioning

confidence: 99%

Sociodemographic and Appointment Factors Affecting Missed Opportunities to Provide Neonatal Ultrasound Imaging

Mateo

Johnston

Wilkinson

et al. 2022

Journal of the American College of Radiology

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“…Macrocephaly, defined as an occipitofrontal circumference (OFC) at least two standard deviations (SD) above the mean for a given age, sex, and ethnicity [ 1 ], affects about 2% of the general population and up to 5% of the children [ 2 , 3 , 4 ]. This phenotype may be driven by the expansion of the brain parenchyma, leading to a subgroup called megalencephaly, or be related to other conditions such as hydrocephalus or thickening of the frontal skull bone (cranial hyperostosis), unconnected to a primary brain development defect [ 5 ].…”

Section: Introductionmentioning

confidence: 99%

“…Because macrocephaly may indicate an underlying disorder, imaging exams, such as computerized tomography scan, head ultrasound, and magnetic resonance imaging can help to narrow the diagnosis, even in utero [ 6 , 7 ]. However, the etiology of most cases remains unknown, and frequently there is an absence of other significant clinical findings that could contribute to unravel the origin of this phenotype [ 4 ]. Nonetheless, it is known that several genetic syndromes have macrocephaly as a main feature, originating from de novo or inherited mutations, such as in Sotos and fragile X syndromes, respectively [ 2 , 3 ].…”

Section: Introductionmentioning

confidence: 99%

“…PTEN haploinsufficiency during the early embryonic development leads to increased proliferation of neural progenitor cells and altered apoptosis that could result in macrocephaly [ 11 , 12 ]. Pathogenic variants in this gene are responsible for about 1/5 of the macrocephaly cases in autistic individuals, and extreme macrocephaly (>3 SD) frequently occurs due to PTEN de novo mutations [ 4 , 13 ].…”

Section: Introductionmentioning

confidence: 99%

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Rare CNVs and Known Genes Linked to Macrocephaly: Review of Genomic Loci and Promising Candidate Genes

Bastos¹,

Tolezano²,

Krepischi³

2022

Genes

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Macrocephaly frequently occurs in single-gene disorders affecting the PI3K-AKT-MTOR pathway; however, epigenetic mutations, mosaicism, and copy number variations (CNVs) are emerging relevant causative factors, revealing a higher genetic heterogeneity than previously expected. The aim of this study was to investigate the role of rare CNVs in patients with macrocephaly and review genomic loci and known genes. We retrieved from the DECIPHER database de novo <500 kb CNVs reported on patients with macrocephaly; in four cases, a candidate gene for macrocephaly could be pinpointed: a known microcephaly gene –TRAPPC9, and three genes based on their functional roles – RALGAPB, RBMS3, and ZDHHC14. From the literature review, 28 pathogenic CNV genomic loci and over 300 known genes linked to macrocephaly were gathered. Among the genomic regions, 17 CNV loci (~61%) exhibited mirror phenotypes, that is, deletions and duplications having opposite effects on head size. Identifying structural variants affecting head size can be a preeminent source of information about pathways underlying brain development. In this study, we reviewed these genes and recurrent CNV loci associated with macrocephaly, as well as suggested novel potential candidate genes deserving further studies to endorse their involvement with this phenotype.

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