International Journal of Mental Health & PsychiatryISSN: 2471-4372

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Case Report, Int J Ment Health Psychiatry Vol: 3 Issue: 4

Progression of Autism in a Young Woman with CHARGE Syndrome: A Longitudinal Follow-up from Birth

Priscilla Hamiaux1,2, Jean Xavier3,4, Elisabeth Lasserre5, Didier Périsse3, Karine Baudelaire6, Vincent Guinchat3, David Cohen3, Laurence Vaivre-Douret1,2,7,8,9 and Véronique Abadie1,2*

1INSERM UMR 1178 and CESP, University of Paris-Sud Saclay, UVSQ and University of Paris Descartes, Sorbonne Paris City, France

2Faculty of Medicine, University of Paris Descartes, Sorbonne Paris City, France

3Department of Child and Adolescent Psychiatry, Université Pierre et Marie Curie, Assistance Publique - Hôpitaux de Paris, Groupe hospitalier Pitié- Salpêtrière, Paris, France

4ISIR, CNRS, UMR 7222, Université Pierre et Marie Curie, Paris, France

5Centre de resource Robert Laplane, Paris, France

6Institut Paul Sivadon, Paris France

7Department of child psychiatry, Necker University Hospital, AP-HP, Paris, France

8Institut Universitaire de France, Paris, France

9Department of Paediatrics, Necker University Hospital, AP-HP, Paris, France

*Corresponding Author : Véronique Abadie
K Service de pédiatrie générale, Hôpital Universitaire Necker 149 rue de Sèvres, 75015 Paris, France
[email protected]

Received: August 11, 2017 Accepted: September 01, 2017 Published: September 06, 2017

Citation: Hamiaux P, Xavier J, Lasserre E, Périsse D, Baudelaire K, et al. (2017) Progression of Autism in a Young Woman with CHARGE Syndrome: A Longitudinal Follow-up from Birth. Int J Ment Health Psychiatry 3:4. doi: 10.4172/2471-4372.1000149


CHARGE Syndrome (CS) is a rare genetic disease involving somatic malformations and multisensory impairments. The association of CS with autism spectrum disorders remains a controversial issue because it remains challenging to clinically assess symptoms of autism in young children with potential severe somatic conditions, deaf blindness and mental delay and the behavior troubles often encountered in individuals with CS can be considered the consequence of their multisensory deficits and medical history. We report the complex developmental trajectory of a 25-year-old girl with typical CS, with emotional disorders and problematic behaviors that led to a diagnosis of autism. Addressed by a multidimensional and integrative perspective, this situation reveals the coexistence of factors and impairments not causally connected but whose constant interactions during her development must be evaluated. In this way, clinicians can achieve a functional diagnosis enabling the elaboration of a tailored therapeutic proposal.

Keywords: CHARGE Syndrome; Deaf blindness; Behavior troubles; Autism

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