Deletion 22q11: a newly recognized cause of behavioral and psychiatric disorders.
نویسندگان
چکیده
BACKGROUND Chromosome 22q11 deletion (del22q11), the most common microdeletion syndrome, causes a wide spectrum of clinical disorders. Recent studies have suggested that significant psychiatric and behavioral disturbances occur in up to 60% of these individuals. OBJECTIVE To illustrate the spectrum of behavioral and psychiatric abnormalities associated with del22q11 and the subtle nature of its associated physical findings. PATIENTS AND METHODS Case series describing psychiatric and behavioral findings in 3 patients with del22q11. RESULTS AND CONCLUSIONS Behavioral and psychiatric problems are common in patients with del22q11 syndrome. Because the physical manifestations of the disorder are so variable and may be subtle, the behavioral and psychiatric manifestations may be the presenting problem. Providers must therefore consider del22q11 as a potential diagnosis in children and adults with behavioral and psychiatric problems. Furthermore, behavioral and psychiatric problems need to be looked for when caring for children and adolescents with a known diagnosis of del22q11.
منابع مشابه
GENES AND SCHIZOPHRENIA Molecular Mechanisms in 22q11 Deletion Syndrome
It is now well recognized that as well as having a characteristic facial dysmorphology and a range of congenital abnormalities, individuals with chromosome 22q11 deletion syndrome (22q11DS) have a greatly increased risk of developing psychosis, in particular schizophrenia. The majority of deletions span a large 3Mb region at 22q11. However, the presence of affected individuals carrying smaller ...
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BACKGROUND 22q11 deletion syndrome is associated with high rates of psychiatric morbidity, especially schizophrenia. If common neurodevelopmental trajectories characterise 22q11 deletion syndrome and idiopathic schizophrenia, then similar'premorbid'features would be predicted. AIMS To define psychopathologyin adolescents and young adults with 22q11 deletion syndrome. METHOD Individuals with...
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The development of genetic technologies has led to the identification of several copy number variations (CNVs) in the human genome. Genome rearrangements affect dosage-sensitive gene expression in normal brain development. There is strong evidence associating human psychiatric disorders, especially autism spectrum disorders (ASDs) and schizophrenia to genetic risk factors and accumulated CNV ri...
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The 22q11 microdeletion syndrome (22q11-DS) is strongly associated with schizophreniform disorders and, in turn, the 22q11 deletion region harbours several candidate genes for schizophrenia. Here, we present the case of an adolescent female patient with 22q11-DS associated with impaired cognitive abilities and behavioural abnormalities. The patient was studied with magnetic resonance imaging (M...
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OBJECTIVE The 22q11 deletion syndrome is associated with a range of possible physical anomalies, probable ongoing learning disabilities, and a specific constellation of neuropsychological deficits, including impairments in selective and executive visual attention, working memory, and sensorimotor functioning. It has been estimated that 25% of the children with 22q11 deletion syndrome go on to d...
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ورودعنوان ژورنال:
- Archives of pediatrics & adolescent medicine
دوره 152 5 شماره
صفحات -
تاریخ انتشار 1998