Care pathways in childhood neurodevelopmental disorders: Toward greater awareness of KBG syndrome among pediatricians

Marie Adamo-Croux, Adriane Auger-Gilli, Gwenaël Le Guyader, Juliette Aubin-Courjault, Henri Margot, Claire Bar, Didier Lacombe, Julien Van-Gils, Marine Legendre, Aurélien Binet, Xavier Le Guillou Horn
Archives de Pédiatrie. 2024-07-01; 31(5): 320-325
DOI: 10.1016/j.arcped.2024.02.007

PubMed

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Adamo-Croux M(1), Auger-Gilli A(2), Guyader GL(3), Aubin-Courjault J(2), Margot
H(4), Bar C(5), Lacombe D(4), Van-Gils J(4), Legendre M(6), Binet A(2), Horn
XLG(7).

Author information:
(1)CHU de Poitiers, Service de Médico-chirurgical de Pédiatrie, F- 86000
Poitiers, France. Electronic address: .
(2)CHU de Poitiers, Service de Médico-chirurgical de Pédiatrie, F- 86000
Poitiers, France.
(3)CHU de Poitiers, Service de Génétique Médicale, F- 86000 Poitiers, France.
(4)Service de Génétique Médicale, Centre de références Maladies Rares, CHU de
Bordeaux, Bordeaux, France; Université de Bordeaux, Laboratoire Maladies Rare:
Génétique et Métabolisme (MRGM) INSERM U1211, Bordeaux, France.
(5)Université de Bordeaux, CNRS, INCIA, UMR 5287, NRGen Team, CHU de Bordeaux,
Service de neurologie pédiatrique, F-33000 Bordeaux, France.
(6)Service de Génétique Médicale, Centre de références Maladies Rares, CHU de
Bordeaux, Bordeaux, France.
(7)CHU de Poitiers, Service de Génétique Médicale, F- 86000 Poitiers, France;
Université de Poitiers, CNRS 7348, LabCom I3M-Dactim mis / LMA, F – 86000
Poitiers, France.

INTRODUCTION: KBG syndrome is an autosomal dominant, polymalformative genetic
syndrome that is mainly associated with neurodevelopmental and learning
disorders, intellectual disability, behavioral disorders, and epilepsy as well
as characteristic dysmorphic features, short stature, and ENT (ear, nose, and
throat) abnormalities. However, the diagnostic pathway of these individuals is
an element that has not been broadly evaluated. The main aim of this study was
therefore to characterize the diagnostic pathway for these individuals, by
assessing the different healthcare professionals involved and the main referral
elements.
METHOD: This was a multicenter, retrospective, descriptive study. A cohort of 30
individuals with KBG syndrome who were followed up at Poitiers University
Hospital and Bordeaux University Hospital we recruited.
RESULTS: Pediatricians were the main healthcare professionals who referred
individuals for genetic consultation, and the main reason for referral was an
assessment of learning delays or intellectual disability, in association with
other abnormalities.
CONCLUSION: Pediatricians play a crucial role in the diagnostic guidance of
individuals with KBG syndrome, and the main reason for referral remains the
assessment of a learning delay or intellectual disability. Healthcare
professionals must therefore remain attentive to the child’s development and the
various anomalies associated with it, in particular characteristic dysmorphic
features, behavioral disorders, and statural growth.