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Exploring Occupational Therapy Practice for Children with Fetal Alcohol Spectrum Disorder.
Occup Ther Health Care
December 2024
Department of Rehabilitation Medicine, University of Washington, Seattle, WA, USA.
Occupational therapy's whole-person approach is well-suited to address the complex needs of children and youth with fetal alcohol spectrum disorder (FASD). However, literature regarding best practices for occupational therapy practitioners working with this population is lacking. This article delineates the role and scope of occupational therapy practice for children and youth with FASD, focusing on holistic and strengths-based approaches.
View Article and Find Full Text PDFHeterozygous Inversion on Chromosome 17 involving PAFAH1B1 Detected by Whole Genome Sequencing in a Patient Suffering from Pachygyria.
Eur J Med Genet
December 2024
Department of Pediatric Rehabilitation, Qingdao Women & Children's Hospital, Qingdao University, Qingdao, China. Electronic address:
Lissencephaly (LIS) is a subtype of malformations of cortical development (MCD), characterized by smooth brain surfaces and underdeveloped gyri and sulci. This study investigates the genetic cause of pachygyria in a Chinese male infant diagnosed with the condition, who previously showed no causative variant through trio whole exome sequencing (Trio-WES) and copy number variation sequencing (CNVseq). Whole-genome sequencing (WGS) was conducted, revealing a novel heterozygous inversion spanning 1.
View Article and Find Full Text PDFCHD3-related Snijders Blok-Campeau syndrome with Spastic Paraplegia, Ataxia, and Situs Inversus.
Eur J Med Genet
December 2024
First Department of Neurology, First Affiliated Hospital of Kunming Medical University, Kunming 650000, China. Electronic address:
The Chromodomain Helicase DNA-binding (CHD) protein family is ATP-dependent chromatin remodeling proteins that utilize energy produced by ATP hydrolysis to regulate chromatin structure and thereby modulate gene expression. The earliest report of a CHD3 gene mutation was by O'Roak, who found it during whole exome sequencing of 189 autism families in 2012. In 2018, Snijders Blok systematically assessed the autosomal dominant neurodevelopmental disorder caused by CHD3 gene damage, known as Snijders Blok-Campeau syndrome (SNIBCPS, OMIM 618205).
View Article and Find Full Text PDFNONO-related X-linked intellectual disability syndrome: further clinical and molecular delineation.
Eur J Med Genet
December 2024
CHU Lille, Institut de Génétique Médicale, F-59000 Lille, France; Univ. Lille, ULR7364 - RADEME - Maladies RAres du DEveloppement embryonnaire et du Métabolisme, F-59000 Lille, France. Electronic address:
The X-linked NONO gene encodes Non-Pou Domain-Containing Octamer-Binding Protein, a multifunctional member of the DBHS family involved in transcriptional regulation, RNA splicing and DNA repair. Pathogenic variants in NONO cause Intellectual Developmental Disorder, X-linked Syndromic (MIM #300967), characterised by intellectual disability, neurodevelopmental delay, cardiomyopathy, such as left ventricular non-compaction (LVNC), and congenital heart defects such as including atrial septal defect (ASD), ventricular septal defect (VSD), patent ductus arteriosus (PDA), and patent foramen ovale (PFO). This study reports three new patients with pathogenic hemizygous frameshift variants in NONO identified with exome sequencing, broadening the clinical presentation.
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