Apraxia

CONFIGURATIONS special issue on GRAPHIC MEDICINE Now out! Access it online through Project Muse. Volume 22, Number 2, Spring 2014 Table of Contents Special Issue on Graphic Medicine Articles and Graphics Introduction pp. 149-152 | DOI: 10.1353/con.2014.0023 Susan Squier, J. Ryan Marks Avatars, Illness, and Authority: Embodied Experience in Breast Cancer Autopathographics pp. 153-181 | DOI: 10.1353/con.2014.0011 Emily Waples Graphic Analysis: Transitional Phenomena in Alison Bechdel’s Are You My Mother? pp. 183-203 | DOI: 10.1353/con.2014.0014 Lisa Diedrich “Harry” pp. 205-206 | DOI: 10.1353/con.2014.0016 MK Czerwiec The Trauma of Diagnosis: Picturing Cancer in Graphic Memoir pp. 207-223 | DOI: 10.1353/con.2014.0018 Nancy K. Miller “My Avatar”; “In the Waiting Room”; “Dr. Sweater” pp. 224-226 | DOI: 10.1353/con.2014.0020 Nancy K. Miller “Cruel to Be Kind” pp. 227-228 | DOI: 10.1353/con.2014.0022 Ian Williams “Kancer Sutra” pp. 229-236 | DOI: 10.1353/con.2014.0010 Isobel Williams Representations of Health, Embodiment, and Experience in Graphic Memoir pp. 237-253 | DOI: 10.1353/con.2014.0013 Courtney Donovan “You Silly Little Girl”; “Ultrasound”, “Pregnancy Test”; “Lost vs. Loss” pp. 255-261 | DOI: 10.1353/con.2014.0015 Paula Knight Becoming Bone Sheep pp. 263-294 | DOI: 10.1353/con.2014.0017 Martina Schlünder, Pit Arens, Axel Gerhardt Book Reviews Biological Relatives: IVF, Stem Cells, and the Future of Kinship by Sarah B. Franklin (review) pp. 295-297 | DOI: 10.1353/con.2014.0019 Sara DiCaglio The Rhetoric of Pregnancy by Marika Seigel (review) pp. 297-298 | DOI: 10.1353/con.2014.0021 Heather Latimer Lighter Than My Shadow by Katie Green (review) pp. 299-301 | DOI: 10.1353/con.2014.0009 Michelle N. Huang

British Psychological Society, Psychotherapy Section Review,, 2022

Kleefstra syndrome is a rare and relatively new syndrome that was discovered by Dr. Tjitske Kleefstra in 2006. Officially, about 500 cases have been reported, but the syndrome may be underdiagnosed. As phenotypic phenomena, people affected by this syndrome have intellectual disability (limited or absent language, autistic spectrum disorders), hypotonia, microcephaly, facial dysmorphisms (facial hypoplasia, synophrys, hypertelorism, anteverted nostrils, macroglossia, macrognathia), congenital malformations (cardiac, respiratory, genitourinary, digestive, of the limbs). The phenotype can easily be confused with Down syndrome because it has similar abnormalities. Most cases occur de novo, but this syndrome can also be autosomal dominant from a mother who has a mosaic gene abnormality. In 75% of cases, a microdeletion occurs at chromosome 9q34.3 and 25% following a mutation localized to the EHMT1 gene or as the result of its loss. Therapeutic interventions include various techniques of psychomotor stimulation and therapy of associated manifestations: malformations, epilepsy, gastrointestinal disorders. In the present paper we present the case of a 6-year-old patient evaluated at "Alexandru Obregia" Pediatric Neurology Clinic Hospital, Bucharest, for overall developmental disorder and epileptic seizures. Clinical and paraclinical evaluation revealed facial dysmorphism, plurimalformative syndrome (cerebral, cardiac, renal). Genetic investigation ArrayCGH identified a deletion at chromosome 9q34.3 level. Kleefstra syndrome is a rare cause of intellectual disability that associates a complex phenotype with important therapeutic implications.

British Psychological Society, Psychotherapy Section Review, 2022

Craft Research, 2021

Review of: Crafting Anatomies: Archives, Dialogues, Fabrications, Katherine Townsend, Rhian Solomon and Amanda Briggs-Goode (eds) (2020) London: Bloomsbury, 344 pp., ISBN 978-1-35007-548-1, ePDF, £61.20

American Journal of Medical Genetics Part A, 2006

2015

Cortex, 2014