[en] Propionic acidemia is the result of a deficiency in propionyl-CoA carboxylase activity. Chronic neurologic and cognitive complications frequently occur, but the psychiatric evolution of the disorder is not well documented. We conducted a pedopsychiatric evaluation of 19 children, adolescents and young adults, aged between 2 and 25 years, using ADI-R, CARS-T, as well as ADOS when autism spectrum disorder was suspected. Previous psychometric examinations were also taken into consideration. Thirteen patients had an IQ < 80. Two patients presented with autism and two additional patients with other autism spectrum disorders. Five patients did not fulfill diagnostic criteria for autism spectrum disorder but showed difficulties indicative of a broader autism phenotype (BAP). Four other patients had severe anxiety manifestations related to their disease. Two patients presented with acute psychotic episodes. The number of decompensations in the first 3 years of life was lower in patients with autism spectrum disorder or related symptoms. These patients were also older when they were assessed (median age of 15 years old versus 11 years old). There was no significant correlation between 3-hydroxypropionate levels during the first 6 years of life and autism spectrum disorder diagnosis. In conclusion, autism spectrum disorder is frequent in patients with propionic acidemia. These patients should undergo in-depth psychiatric evaluation and be screened for autism spectrum disorder. Further studies are needed to understand the underlying mechanisms.
Disciplines :
Psychiatry
Author, co-author :
de la Bâtie, Caroline Dejean; Service de Pédopsychiatrie, Hôpital Necker-Enfants Malades, Université Paris Descartes, APHP, 149 rue de Sèvres, 75015, Paris, France
Barbier, Valérie; Reference Center of Inherited Metabolic Diseases, Imagine Institute, Hôpital Necker-Enfants Malades, Université Paris Descartes, APHP, Paris, France
Roda, Célina; Reference Center of Inherited Metabolic Diseases, Imagine Institute, Hôpital Necker-Enfants Malades, Université Paris Descartes, APHP, Paris, France
Brassier, Anaïs; Reference Center of Inherited Metabolic Diseases, Imagine Institute, Hôpital Necker-Enfants Malades, Université Paris Descartes, APHP, Paris, France
Arnoux, Jean-Baptiste; Reference Center of Inherited Metabolic Diseases, Imagine Institute, Hôpital Necker-Enfants Malades, Université Paris Descartes, APHP, Paris, France
Valayannopoulos, Vassili; Reference Center of Inherited Metabolic Diseases, Imagine Institute, Hôpital Necker-Enfants Malades, Université Paris Descartes, APHP, Paris, France
Guemann, Anne-Sophie; Reference Center of Inherited Metabolic Diseases, Imagine Institute, Hôpital Necker-Enfants Malades, Université Paris Descartes, APHP, Paris, France
Pontoizeau, Clément; Service de Biochimie Métabolique, Hôpital Necker-Enfants Malades, Université Paris Descartes, APHP, Paris, France
Gobin, Stéphanie; Service de Génétique, Imagine Institute, Hôpital Necker-Enfants Malades, Université Paris Descartes, APHP, Paris, France
Habarou, Florence; Service de Biochimie Métabolique, Hôpital Necker-Enfants Malades, Université Paris Descartes, APHP, Paris, France
Lacaille, Florence; Service de Gastro-entérologie et hépatologie, Hôpital Necker-Enfants Malades, APHP, Paris, France
Bonnefont, Jean-Paul; Service de Génétique, Imagine Institute, Hôpital Necker-Enfants Malades, Université Paris Descartes, APHP, Paris, France
Canouï, Pierre; Service de Pédopsychiatrie, Hôpital Necker-Enfants Malades, Université Paris Descartes, APHP, 149 rue de Sèvres, 75015, Paris, France
Ottolenghi, Chris; Service de Biochimie Métabolique, Hôpital Necker-Enfants Malades, Université Paris Descartes, APHP, Paris, France
De Lonlay, Pascale; Reference Center of Inherited Metabolic Diseases, Imagine Institute, Hôpital Necker-Enfants Malades, Université Paris Descartes, APHP, Paris, France
Ouss, Lisa ; Université de Liège - ULiège > Département des sciences cliniques > Psychiatrie infanto-juvénile ; Service de Pédopsychiatrie, Hôpital Necker-Enfants Malades, Université Paris Descartes, APHP, 149 rue de Sèvres, 75015, Paris, France. lisa.ouss@aphp.fr
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