Diagnostic criteria for Cohen Syndrome are based largely on physical characteristics, and systematic information about behaviour and social functioning is limited. Typically, individuals with this condition are described as being very sociable and as showing low rates of pathology. However, recent studies have indicated that behavioural difficulties may occur more frequently than previously suggested and that autistic features may be relatively common. The present investigation of 45 individuals with Cohen Syndrome (age 4-48 years) found that, although 57% of the sample were reported as showing some behavioural disturbance, problems related mainly to anxiety and social interactions; marked anti-social behaviours were rare. Twenty-two individuals met criteria for autism on standardised diagnostic assessments, although the "autistic profile" was somewhat atypical. The implications of these findings for our understanding of Cohen Syndrome are discussed.
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http://dx.doi.org/10.1007/s00787-005-0416-4 | DOI Listing |
Prog Retin Eye Res
December 2024
Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands; Department of Ophthalmology, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
Retinitis pigmentosa (RP) is a progressive inherited retinal dystrophy, characterized by the degeneration of photoreceptors, presenting as a rod-cone dystrophy. Approximately 20-30% of patients with RP also exhibit extra-ocular manifestations in the context of a syndrome. This manuscript discusses the broad spectrum of syndromes associated with RP, pathogenic mechanisms, clinical manifestations, differential diagnoses, clinical management approaches, and future perspectives.
View Article and Find Full Text PDFFront Neurosci
December 2024
Institute of Cell Biology and Neurobiology, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin und Humboldt-Universität zu Berlin, Berlin, Germany.
Introduction: Cohen syndrome (CS) is an early-onset pediatric neurodevelopmental disorder characterized by postnatal microcephaly and intellectual disability. An accurate diagnosis for individuals with CS is crucial, particularly for their caretakers and future prospects. CS is predominantly caused by rare homozygous or compound heterozygous pathogenic variants in the vacuolar protein sorting-associated 13B () gene, which disrupt protein translation and lead to a loss of function (LoF) of the encoded VPS13B protein.
View Article and Find Full Text PDFJ Pediatr Ophthalmol Strabismus
December 2024
Purpose: To review the current literature, to provide a foundation of knowledge on strabismus surgery in patients with developmental delay, and to present results from the authors' personal experience.
Methods: The following terms were searched on PubMed: strabismus surgery, mental delay, developmental delay, Down syndrome, Angelman syndrome, cerebral palsy, hydrocephalus, Williams syndrome, fragile X syndrome, and fetal alcohol syndrome. Surgical outcomes were analyzed and discussed; only English articles were included.
J Cell Biol
December 2024
ICFO-Institut de Ciencies Fotoniques, The Barcelona Institute of Science and Technology, Barcelona, Spain.
Int J Dev Neurosci
December 2024
Department of Medical Genetics, Balıkesir University Faculty of Medicine, Balıkesir, Turkey.
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