Cognitive and Behavioral Characteristics of Children with Chromosome 22q11.2 Deletion Syndrome
نویسندگان
چکیده
In this initial section we will present information with the aim of increasing early identification of the chromosome 22q11.2 deletion syndrome. We will begin with a definition of the syndrome and its nomenclature and the current best estimates of its incidence. We then discuss some of the features that have the highest specificity or sensitivity for detection of the syndrome, both in terms of physical manifestations and behavioral or psychiatric disorders. We will then briefly discuss similar disorders that might be confused with or diagnosed instead of the chromosome 22q11.2 deletion syndrome. Finally, we will describe two diagnostic cases that together illustrate the range or variability of signs and symptoms that need to be considered when identifying this disorder
منابع مشابه
Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome: a preliminary study.
BACKGROUND As children with velocardiofacial syndrome (VCFS) develop, they are at increased risk for psychopathology; one third will eventually develop schizophrenia. Because VCFS and the concomitant symptomatology result from a known genetic origin, the biological and behavioral characteristics of the syndrome provide an optimal framework for conceptualizing the associations among genes, brain...
متن کاملEarly onset intellectual disability in chromosome 22q11.2 deletion syndrome.
Chromosome 22q11.2 deletion syndrome, or DiGeorge syndrome, or velocardiofacial syndrome, is one of the most common multiple anomaly syndromes in humans. This syndrome is commonly caused by a microdelection from chromosome 22 at band q11.2. Although this genetic disorder may reflect several clinical abnormalities and different degrees of organ commitment, the clinical features that have driven ...
متن کاملIncreased incidence and size of cavum septum pellucidum in children with chromosome 22q11.2 deletion syndrome.
Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a result of a hemizygotic microdeletion that results in a variety of impairments in children including greater risk for psychiatric ailments in adulthood. We used high-resolution magnetic resonance imaging to accurately quantify the length and, for the first time, volume, of the cavum septum pellucidum (CSP) in children aged 7 to 14years with ...
متن کاملA Patient with Interstitial 5q21 Deletion, Familial Adenomatous Polyposis, Dysmorphic Features, and Profound Neurologic Dysfunction
Familial adenomatous polyposis (FAP) is a hereditary autosomal dominant cancer syndrome, results from germ line mutation or deletion of the Adenomatous Polyposis Coli (APC) gene on chromosome 5q21. Patients with FAP suffer from multiple polyps mainly at the colorectal region as well as other parts of the gastrointestinal tract, which has propensity to transform into carcinoma. FAP has also...
متن کاملImpaired object tracking in children with chromosome 22q11.2 deletion syndrome
Background: Chromosome 22q11.2 Deletion Syndrome (22q11.2DS) occurs in approximately 1:4,000 live births with a complex and variable presentation that includes medical, socioemotional and psychological symptoms with intellectual impairment. Cognitive impairments in spatiotemporal and visuospatial attention have also been reported. However, maintenance of selective attention to dynamic and inter...
متن کامل