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Neurodevelopmental Risks of Non-syndromic Craniosynostosis
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| 자료유형 | 학위논문 |
|---|---|
| 서명/저자사항 | Neurodevelopmental Risks of Non-syndromic Craniosynostosis. |
| 개인저자 | Wu, Robin T. |
| 단체저자명 | Yale University. Yale School of Medicine. |
| 발행사항 | [S.l.]: Yale University., 2019. |
| 발행사항 | Ann Arbor: ProQuest Dissertations & Theses, 2019. |
| 형태사항 | 86 p. |
| 기본자료 저록 | Dissertations Abstracts International 81-03B. Dissertation Abstract International |
| ISBN | 9781085619981 |
| 학위논문주기 | Thesis (M.D.)--Yale University, 2019. |
| 일반주기 |
Source: Dissertations Abstracts International, Volume: 81-03, Section: B.
Advisor: Persing, John A. |
| 이용제한사항 | This item must not be sold to any third party vendors.This item must not be added to any third party search indexes. |
| 요약 | Purpose: Nonsyndromic craniosynostosis may manifest with complex cognitive, language, behavioral, and emotional sequelae, depending on the suture fusion involved. De-novo or rare transmitted mutations in the SMAD6 gene affect midline synostosis in 7% of patients. Current standards of assessment, such as the Bayley Scales of Infant Development (BSID), may not be predictive of long-term development, paving the way for newer assessments such as functional magnetic resonance imaging (fMRI) and the event related potentials (ERP), which measures passive neurological responses to speech sounds. Methods: Cranially-mature, post-operative unilateral coronal, metopic, midline SMAD6 mutated and age/race/gender/synostosis/operation matched non-SMAD6 controls from the Yale Craniofacial Clinic and the Children's Hospital of Philadelphia (CHOP) completed a double-blinded neurodevelopmental assessment, which included the Wechsler Fundamentals, Wechsler Abbreviated Scale of Intelligence, and Beery- Buktenica Developmental Test. Unilateral coronal (ULC) or metopic synostosis were age/gender/handedness matched to controls and participated in a GoNoGo task under fMRI. Craniosynostosis infants were given the BSID and ERP testing at two points (pre and post operatively), and after they reached >6 years of age, patients completed the Wechsler Abbreviated Scale of Intelligence and Wechsler Fundamentals to measure 5 language functional domains. Results: ULC patients had a mean verbal IQ of 117.3 and performance IQ of 106.4, performed above average on academic achievements except for numerical, but below average on all visual-motor tests. Right ULC had improved spelling compared to left ULC, controlled for exogenous influences (p=0.033). Metopic patients with mild phenotype (endocranial bifrontal angle <124) performed better in word reading (p=0.035) and reading composite (p=0.014) than patients with severe stenosis (>124). After controlling for exogenous factors, midline synostosis patients with SMAD6 mutations performed worse on numerical operations(p=0.046), performance IQ(p=0.018), full IQ(p=0.010), and motor coordination(p=0.043) than those without the mutation. Among seven ULC and six metopic patients that participated in fMRI, metopic patients had decreased bloodoxygenation- level-dependent signal in the posterior cingulate(p=0.017) and middle temporal gyrus(MTG |
| 일반주제명 | Medicine. Physiology. Neurosciences. Health sciences. Cognitive psychology. Psychobiology. Physiological psychology. |
| 언어 | 영어 |
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