Background: Several genetic syndromes are associated with diabetes mellitus (DM). This study aimed to analyse data from the DPV database with regard to frequency, treatment strategies and long-term complications in paediatric DM patients with genetic syndromes, including Turner syndrome (TS), Prader-Willi syndrome (PWS), Friedreich ataxia (FA), Alström syndrome (AS), Klinefelter syndrome (KS), Bardet-Biedl syndrome (BBS), Berardinelli-Seip syndrome (BSS) and Down syndrome (DS).
Methods: Longitudinal data for 43 521 patients with DM onset at age < 20 years were collected from 309 treatment centres in Germany and Austria using the DPV software. Data included anthropometric parameters, type of diabetes, mean age, age at diabetes onset, daily insulin dose, HbA 1c , micro- and macroalbuminuria, retinopathy and dyslipidaemia. Descriptive statistics and standard statistical tests were used for data analysis.
Results: In total, 205 DM patients had one of the following syndromes: DS (141 patients), TS (24), PWS (23), FA (5), AS (5), KS (4), BBS (2) and BSS (1). Diabetes-specific antibodies were positive in the majority of patients with DS, TS and FA.
Conclusion: Despite the well-known association between DM and certain syndromic disorders, the number of affected patients in the German and Austrian paediatric diabetic population is very low. Nevertheless, physicians should be aware of syndromic forms of diabetes. Joint multicentre analyses are needed to draw relevant conclusions.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1055/s-0032-1306330 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
The PROPHECI trial: a phase II, double-blind, placebo-controlled, randomized clinical trial for the treatment of pseudoxanthoma elasticum with oral pyrophosphate.
Trials
January 2025
Université Côte d'Azur, CNRS, LP2M, Nice, France.
Background: /aims. Pseudoxanthoma Elasticum (PXE, OMIM 264800) is an autosomal, recessive, metabolic disorder characterized by progressive ectopic calcification in the skin, the vasculature and Bruch's membrane. Variants in the ABCC6 gene are associated with low plasma pyrophosphate (PPi) concentration.
View Article and Find Full Text PDFPancreatic Cancer: Screening and Early Detection.
Gastroenterol Clin North Am
March 2025
Karsh Division of Gastroenterology and Hepatology, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, ST, Suite 7705, Los Angeles, CA 90048, USA. Electronic address:
Pancreatic cancer, often diagnosed at advanced stages, has poor survival rates. Effective screening aims to detect the disease early, improving outcomes. Current guidelines recommend screening high-risk groups, including those with a family history or genetic predispositions, using methods like endoscopic ultrasound and MRI.
View Article and Find Full Text PDFPharmacotherapy for Tourette Syndrome.
Psychiatr Clin North Am
March 2025
Pediatric Psychiatry OCD and Tic Disorders Program, Department of Psychiatry, Massachusetts General Hospital, 185 Cambridge Street, Suite 2000, Boston, MA 02114, USA. Electronic address:
Tourette syndrome (TS) is associated with dysregulated cortico-striatal-thalamo-cortical neural circuitry, of which the primary implicated neurotransmitters include dopamine, glutamate, and gamma-aminobutyric acid. Pharmacologic intervention for tics should be considered when tics are causing psychological, functional, or physical impairment, and behavioral treatment is either inaccessible or ineffective. Only 3 medications have Food and Drug Administration approval for TS, including 2 typical antipsychotics (pimozide and haloperidol) and 1 atypical antipsychotic (aripiprazole).
View Article and Find Full Text PDFEvidence-Based Behavior Therapy for Tourette Syndrome.
Psychiatr Clin North Am
March 2025
Division of Child & Adolescent Psychiatry, Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Developmental Behavioral Health, Kennedy Krieger Institute, Baltimore, MD, USA. Electronic address:
This article provides an overview of evidence-based behavior therapy for Tourette syndrome (TS) in children, adolescents, and adults. First, this article describes evidence-based behavioral therapies for TS, examines their efficacy in randomized controlled trials, and identifies extant limitations. Second, based on the identified limitations, this article presents future directions for further research on behavioral therapies for TS.
View Article and Find Full Text PDFEvidence-Based Assessment of Tourette Syndrome.
Psychiatr Clin North Am
March 2025
Division of Child & Adolescent Psychiatry, Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Center for Developmental Behavioral Health, Department of Psychiatry, Kennedy Krieger Institute, Baltimore, MD, USA; Center for OCD, Anxiety, and Related Disorders for Children (COACH), Division of Child & Adolescent Psychiatry, Department of Psychiatry & Behavioral Science, Johns Hopkins University School of Medicine, Baltimore, MD, USA. Electronic address:
Tourette syndrome and persistent tic disorders (collectively, TS) are impairing childhood-onset neuropsychiatric conditions. Utilizing evidence-based assessments (EBA) is standard for effective and accurate screening, diagnosis, and monitoring of TS. EBAs consist of brief screening instruments, structured/semi-structured clinician-administered interviews, self-report, and parent-report and child-report.
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!