Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy +16 more
wiley +1 more source
Beyond screen time: The core influences of problematic screen use on adolescent development networks. [PDF]
J Behav AddictXu LX +7 more
europepmc +1 more source
Social isolation and its impact on child and adolescent development: a systematic review. [PDF]
Rev Paul Pediatr, 2021 Almeida ILL +3 more
europepmc +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim +8 more
wiley +1 more source
Assessing childhood and adolescent development of self-concepts via a self-referent encoding task. [PDF]
Psychol AssessGabel LN +5 more
europepmc +1 more source
Expanding the Utility of Exome Sequencing in Preventive and Population Genetics
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas +6 more
wiley +1 more source
Commentary: The COVID-19 pandemic and its impact on adolescent development: Embracing a more ecological perspective. [PDF]
J Res AdolescWiium N.
europepmc +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard +6 more
wiley +1 more source
Within-person imbalance of reward sensitivity and executive functioning across adolescent development: A longitudinal examination of the dual systems model from childhood to adulthood. [PDF]
Dev PsycholLozano Wun V +3 more
europepmc +1 more source
The Young Adolescent Project: A longitudinal study of the effects of maltreatment on adolescent development. [PDF]
Dev Psychopathol, 2020 Negriff S +6 more
europepmc +1 more source