(ISSN 2577-5790)
OBM Genetics is an international Open Access journal published quarterly online by LIDSEN Publishing Inc. It accepts papers addressing basic and medical aspects of genetics and epigenetics and also ethical, legal and social issues. Coverage includes clinical, developmental, diagnostic, evolutionary, genomic, mitochondrial, molecular, oncological, population and reproductive aspects. It publishes a variety of article types (Original Research, Review, Communication, Opinion, Comment, Conference Report, Technical Note, Book Review, etc.). There is no restriction on the length of the papers and we encourage scientists to publish their results in as much detail as possible.
Publication Speed (median values for papers published in 2024): Submission to First Decision: 6.4 weeks; Submission to Acceptance: 12.2 weeks; Acceptance to Publication: 7 days (1-2 days of FREE language polishing included)
Topical Collection
Rare Genetic Syndromes: From Diagnosis to Treatment
Editor
Fabrizio Stasolla, PhD, Professor
"Giustino Fortunato" University of Benevento, Benevento, Italy
Research interests: autism spectrum disorders; Cerebral Palsy; Rare genetic syndromes (e.g. Angelman, Rett, Cornelia de Lange, fragile X); cognitive-behavioral interventions; Post-coma; Alzeimer; Parkinson; sclerosis neurodegenerative diseases; single-subject experimental designs
Topical Collection Information
Children, adolescents, and young adults with rare genetic syndromes (e.g., Angelman, Down, Cornelia de Lange, Fragile X, Rett, and Williams syndromes) may experience significant problems while dealing with everyday life requests. Beside intellectual disabilities, communication disorders, motor impairments, and/or sensorial deficits may be included. An early diagnosis can be considered critical. Rehabilitative programs can be addressed accordingly.
This special issue will consider any type of paper (e.g., systematic reviews, scoping reviews, meta-analysis, empirical studies, randomized controlled trials, between groups comparisons, single-subject experimental studies, case-reports, and/or protocol studies) having individuals diagnosed with a rare genetic syndrome with both assessment and rehabilitative purposes as a basic target. Although technology-based interventions are privileged (i.e., assistive technology, new technologies as augmented and/or virtual reality setups, artificial intelligence settings, serious games, mobile and/or wearable technologies, telerehabilitation), any approaches (e.g., pharmacological or non-pharmacological, with behavioral and/or cognitive-behavioral therapies) are sought.
Publication (8 papers)
Abstract
| Harlequin ichthyosis (HI) is among the most severe hereditary skin conditions of autosomal recessive congenital ichthyosis (ARCI) in newborns, associated with a mutation of the ABCA12 gene. Patients have a typical clinical appearance at birth. A thick layer of armor-like scales [...] |
Abstract
| Partial deletion of 10p is a rare disorder. Common features of this disorder include intellectual disability, developmental delay, dysmorphic features, hypoparathyroidism, deafness, and renal anomalies, but the phenotypes can vary between patients. We report an infant girl presented with global deve [...] |
Abstract
| Rett syndrome (RTT) is a rare neurodevelopmental disorder primarily affecting females, characterized by a spectrum of debilitating symptoms that impact neurological, cognitive, and motor functions. Eye-tracking technology (ETT) has emerged as a prominent tool in Augmentative and Alternat [...] |
Amanda Pong
and
Pavel Klein
Abstract
| Tuberous sclerosis complex (TSC) is caused by mutations of hamartin (TSC1) or tuberin (TSC2) resulting in disinhibition of the mTOR pathway of cellular proliferation and differentiation and severe neurocognitive impairment, intractable epilepsy and tumors. Epilepsy develops in ~90% folll [...] |
Abstract
| Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by increased sensitivity to ultraviolet radiation, leading to severe skin manifestations and a higher risk of early-onset malignancies. Previous studies from temperate climate countries with sound economic levels showed adequate photo [...] |
Abstract
| This work describes a clinical case of a violation of sex formation in a newborn child with Y-chromosome dysomy. The diagnostic challenges related to Y-chromosome variability and associated anomalies in sex development are being considered. The work presents clinical and laboratory data [...] |
Abstract
| 22q11.2 deletion syndrome (22q11.2DS) is a complex and widely variable genetic syndrome involving multisystem physical health problems, significant cognitive and psychosocial challenges, all of which may impact upon learning and academic achievement. In the current study, we explored mothers’ percep [...] |
Lyudmila N. Voloshina
, Viktor L. Kondakov
, Karina E. Panasenko
, Lyudmila K. Buslovskaya
and
Dmitry V. Shcherbin
Abstract
| According to modern research, there is a high risk of motor development disorders in children 6-7 years old with autism spectrum disorders. This determines the relevance of studying the problem of individual differences in motor development of children 6-7 years old with autism spectrum disorders, t [...] |
| 2023 |  |
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| CiteScore | SJR | SNIP |
| 0.4 | 0.160 | 0.093 |
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