AI Article Synopsis
- KBG syndrome is an autosomal dominant genetic disorder characterized by neurodevelopmental issues, intellectual disability, behavioral problems, epilepsy, and distinct physical features.
- This study aimed to analyze the diagnostic pathway for individuals with KBG syndrome, focusing on the healthcare professionals involved and the reasons for referrals.
- Results indicated that pediatricians were the primary referrers for genetic consultation, mainly due to concerns about learning delays or intellectual disabilities in children.
Article Abstract
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.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.arcped.2024.02.007 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Child with KBG syndrome.
BMJ Case Rep
December 2024
Pediatric Neurology, Aster CMI Hospital, Bengaluru, Karnataka, India
Article Synopsis
- A male child presented with developmental delay and distinct facial features including a uniquely shaped skull and specific ear and eyebrow characteristics.
- The mobile app Face2Gene was utilized to analyze the child’s facial photos, indicating a strong possibility of KBG syndrome.
- Confirmation of the diagnosis was achieved through exome sequencing, which identified a specific mutation linked to KBG syndrome.
KBG Syndrome in 16 Indian Individuals.
Am J Med Genet A
February 2025
Suma Genomics Private Limited, Manipal, India.
Article Synopsis
- - The study analyzed the clinical and genetic features of 16 individuals with KBG syndrome (KBGS) from 13 Indian families, focusing on likely pathogenic variants in the ANKRD11 gene.
- - Key clinical traits observed included a high prevalence of learning/intellectual disabilities (93%), skeletal abnormalities (93%), and distinctive facial features (87%).
- - Genetic analysis revealed 12 single nucleotide variants (SNVs) in the ANKRD11 gene, with many clustering around exon 9, and the Face2Gene application showed high accuracy in suggesting differential diagnoses for KBGS.
Assessment of Adaptive Functioning and the Impact of Seizures in KBG Syndrome.
Am J Med Genet A
February 2025
Department of Human Genetics, NYS Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA.
This study aimed to examine the adaptive functioning status and the impact of epileptic seizures on neurocognitive outcomes in KBG syndrome, a rare genetic neurodevelopmental disorder characterized by pathogenic variants in ANKRD11. A single clinician interviewed individuals and families with genetically confirmed cases of KBG syndrome. Trained professionals also conducted assessments using the Vineland-3 Adaptive Behavior Scales.
View Article and Find Full Text PDFTremor-Dominant Movement Disorder in Associated KBG Syndrome.
Tremor Other Hyperkinet Mov (N Y)
September 2024
Institute of Human Genetics, Technical University of Munich, School of Medicine and Health, Munich, Germany.
Article Synopsis
- * A case study of a 24-year-old patient revealed they had a significant tremor disorder, including various types of tremors and additional symptoms like muscle stiffness and coordination issues, alongside some developmental delays and epilepsy.
- * This case underscores the importance of recognizing movement disorders in KBG syndrome, suggesting that genetic testing for pathogenic variants should be considered when diagnosing tremor-related conditions.
Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search.
Orphanet J Rare Dis
August 2024
Department of Endocrinology, Genetics and Metabolism, Affiliated Hospital of Jining Medical University, Jining, Shandong, 272029, China.
Ankyrin repeat domain containing-protein 11 (ANKRD11), a transcriptional factor predominantly localized in the cell nucleus, plays a crucial role in the expression regulation of key genes by recruiting chromatin remodelers and interacting with specific transcriptional repressors or activators during numerous biological processes. Its pathogenic variants are strongly linked to the pathogenesis and progression of multisystem disorder known as KBG syndrome. With the widespread application of high-throughput DNA sequencing technologies in clinical medicine, numerous pathogenic variants in the ANKRD11 gene have been reported.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!