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Participants were identified from a larger cohort of women recruited to a prospective study exploring the impact of physical activity and nutrition on macrosomia. The study was conducted in one Health and Social Care Trust in Northern Ireland between January and September 2010. a qualitative design utilising interviews conducted 13-19 weeks post partum in women's homes. To explore women's perceptions and experiences of pregnancy and childbirth following birth of a macrosomic infant (birth weight ≥4000g). Reid, Esther W McNeill, Jenny A Holmes, Valerie A Alderdice, Fiona A Women's perceptions and experiences of fetal macrosomia. The familial macrocephalic children had ventricular measurements which were within the normal range, but absolute measurements of the ventricular size may be misleading, because the CT appearance was of mildly dilated ventricles in half of them. CT scans usually clearly distinguished these children from those with hydorocephalus. Some of the children were hypotonic as infants, but their development was generally normal. Subsequent evaluations have shown the head size of these children to be following a normal growth curve. The head circumference at birth was known for 14 of the children and it was above the 98th percentile in 7 patients. Three of 5 brothers and 5 of 8 sisters also had large heads. Foureen parents (13 fathers and 1 mother) had head sizes above 98th percentile. Of the 16 children with familial macrocephaly, 13 were boys. We reported 63 macrocephalic children with special emphasis on 16 cases with familial macrocephaly. Tatsuno, Masaru Hayashi, Michiko Iwamoto, Hiroko International Nuclear Information System (INIS) Our reported case raises the questions whether the NCAM2-deletion is the true cause of the ASD or only a risk factor and whether there might be any connection in NCAM2 with skull-size autism spectrum disorder, macrocephaly, neural cell adhesion molecule 2 protein (NCAM2), array comparative genomic hybridization (microarray). Among many ASD-candidate genes, NCAM2 has been assumed to play a pivotal role in the development of ASD because of its function in the outgrowth and bundling of neurites.
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Other family members with the microdeletion show a large skull circumference but do not exhibit any symptoms of autism spectrum disorder. We report on an 8-year-old boy with autism spectrum disorder (ASD), speech delay, behavioural problems, disturbed sleep and macrosomia including macrocephaly carrying a microdeletion that contains the entire NCAM2 gene and no other functional genes. Scholz, Caroline Steinemann, Doris Mälzer, Madeleine Roy, Mandy Arslan-Kirchner, Mine Illig, Thomas Schmidtke, Jörg Stuhrmann, Manfred These are explained more detailed way with examples.NCAM2 deletion in a boy with macrocephaly and autism: Cause, association or predisposition? Please find the most frequently asked questions and answers for your reference. Read More … Excel VBA FAQs: Frequently Asked Questions
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