The clinical picture typically associated with cri du chat syndrome is one of profound intellectual impairment, severe motor delay and increased morbidity. In contrast to this picture, the present case report describes the cognitive and behavioural profile of a young female with cri du chat syndrome who displays no evidence of severe learning disability. Cognitive performance indicated good verbal skills with specific strengths on those tasks that require the ability to store and retrieve verbal information in comparison to poor non-verbal, spatial skills and weaknesses on those tasks that require multi-step manipulation of spatial stimuli and the ability to form whole percepts from fragmentary parts. The finding underlies the importance of assessing the wide range of cognitive potential of individuals with cri du chat syndrome.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1111/j.1469-8749.1996.tb15050.x | DOI Listing |
Children (Basel)
December 2024
Department of Speech Therapy, School of Health Sciences, University of Ioannina, 45500 Ioannina, Greece.
A specific deletion on the short arm of chromosome 5 (5p) is the hallmark of the rare genetic syndrome called Cri du Chat Syndrome (CdCS). It causes severe difficulty with swallowing, speech, motor skills, and cognitive deficiencies. These arise from characteristic laryngeal abnormalities and oral-motor dysfunctions.
View Article and Find Full Text PDFLaryngoscope
December 2024
Department of Pediatric Otolaryngology, Children's Health Ireland at Temple Street, Dublin, Ireland.
Laryngeal anatomical variations in Cri du Chat syndrome remain incompletely characterized in the medical literature, with few published photographic documentations. We present a case of a 20-month-old male with confirmed 5p15 deletion who presented with congenital inspiratory stridor and dysphagia. Videofluoroscopic evaluation at 13 months demonstrated aspiration of thin liquids.
View Article and Find Full Text PDFEur J Pediatr
December 2024
Università Cattolica del Sacro Cuore, Rome, 00168, Italy.
Front Genet
October 2024
University of Pittsburgh, Pittsburgh, PA, United States.
Introduction: 5p deletion syndrome, also called Cri-du-chat syndrome 5p is a rare genetic syndrome with reports up to 36% of patients are associated with congenital heart defects. We investigated the association between left outflow tract obstruction and Cri-du-chat syndrome.
Methods: A retrospective review of the abnormal microarray cases with congenital heart defects in Children's Hospital of Pittsburgh and the Cytogenomics of Cardiovascular Malformations Consortium.
Int J Mol Sci
October 2024
Pediatric Unit, Castelli Hospital, 28921 Verbania, Italy.
Salivary gland pleomorphic adenoma (SGPA) is the most common type of benign epithelial tumor; it is observed more commonly in females (with a female-to-male ratio of 1.43:1), and the age at diagnosis ranges between 40 and 59 years, with only 2% of cases diagnosed before age 18. Cri du Chat (CdC) is a rare syndrome caused by deletions of various sizes in the short arm of chromosome 5.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!