Albert E. Chudley

SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X‐Linked Intellectual Disability

Arkaprava Roychaudhury, Yu‐Ri Lee, Tae‐Ik Choi, Mervyn G. Thomas et autres

OBJECTIVE: Intellectual disability is often the outcome of neurodevelopmental disorders and is characterized by significant impairments in intellectual and adaptive functioning. X-linked intellectual disability (XLID) is a subset of these disorders caused by genetic defects on the X chromosome, affecting about 2 …

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Risk and Resilience Variants in the Retinoic Acid Metabolic and Developmental Pathways Associated with Risk of FASD Outcomes

Leo McKay, Berardino Petrelli, Molly Pind, James N. Reynolds et autres

Fetal Alcohol Spectrum Disorder (FASD) is a common neurodevelopmental disorder that affects an estimated 2–5% of North Americans. FASD is induced by prenatal alcohol exposure (PAE) during pregnancy and while there is a clear genetic contribution, few genetic factors are currently identified …

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Molecular characterization of 13 patients with PIK3CA ‐related overgrowth spectrum using a targeted deep sequencing approach

Leanne de Kock, Alexanne Cuillerier, Meredith K. Gillespie, Madeline Couse et autres

Activating variants in the PIK3CA gene cause a heterogeneous spectrum of disorders that involve congenital or early-onset segmental/focal overgrowth, now referred to as PIK3CA-related overgrowth spectrum (PROS). Historically, the clinical diagnoses of patients with PROS included a range of distinct syndromes, including …

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Eye movement defects in KO zebrafish reveals SRPK3 as a causative gene for an X-linked intellectual disability

Cheol‐Hee Kim, Yu‐Ri Lee, Mervyn G. Thomas, Arkaprava Roychaudhury et autres

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Teratogenic Influences on Cerebellar Development

Albert E. Chudley

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Dietary Intake Patterns and Lifestyle Behaviors of Pregnant Women Living in a Manitoba First Nations Community: Implications for Fetal Alcohol Spectrum Disorder

Olena Kloss, Marie Jebb, Linda Chartrand, Albert E. Chudley et autres

The information on the nutrition status of women at-risk of carrying a child with fetal alcohol spectrum disorder (FASD) is scarce, particularly in the First Nations population living on reserve. This study examined and compared nutrition status, dietary intake, and lifestyle patterns …

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Genetics of FASD: Confounding Rare Craniofacial and Neurodevelopmental Disorders May Identify Ethanol-Sensitizing Genetic Variants of FASD

Leo McKay, Berardino Petrelli, Albert E. Chudley, Geoffrey G. Hicks

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FASD: A Clinician’s Perspective: Key Questions and Answers with Commentary

Albert E. Chudley

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Classifications of split hand foot malformation (SHFM) should include transverse deficiencies: Why Maisels was correct

Alison M. Elliott, William J. Scott, Albert E. Chudley, Martin H. Reed et autres

Not applicable.

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A Scoping Literature Review of the Nutrition Status Among Canadian First Nations Women During Pregnancy: What Does the Evidence Reveal?

Olena Kloss, Karlee N. Dyck, Heather Giesbrecht, Rachel Eni et autres

Background: Indigenous women residing in remote communities experience a disproportionately higher prevalence of nutrition-related chronic diseases. The development of evidence-based programs and policies to minimize these health disparities necessitates a comprehensive understanding of Indigenous women’s nutrition status and dietary intake patterns. However, …

Profile of Mothers of Children with Fetal Alcohol Spectrum Disorder: A Population-Based Study in Canada

Svetlana Popova, Shannon Lange, Valerie K. Temple, Vladimir B. Poznyak et autres

Objective: To compare the characteristics of mothers of children with Fetal Alcohol Spectrum Disorder (FASD) with mothers of typically developing control children. Methods: The study utilized a cross-sectional, observational design, using active case ascertainment. Biological mothers were interviewed using a standardized retrospective …

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Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

David Alexandre Dyment, Anne O’Donnell‐Luria, Pankaj B. Agrawal, Zeynep Coban‐Akdemir et autres

Dubowitz syndrome (DubS) is considered a recognizable syndrome characterized by a distinctive facial appearance and deficits in growth and development. There have been over 200 individuals reported with Dubowitz or a "Dubowitz-like" condition, although no single gene has been implicated as responsible …

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