Table 1.
Genetic abnormality | PWS
|
VCF
|
SMS
|
||
---|---|---|---|---|---|
del 15q11 | del 15q13.3 | del 10q26 | del 22q11 | RAI1 (17p11.2) | |
OMIM | #176270 | #612001 | #609625 | #192430 | #182290 |
Depression | X | X | X | X | |
Rapid mood swings | X | X | X | X | X |
Irritability | X | X | |||
Hyperactivity | X | X | X | X | |
Impulsivity | X | X | X | ||
Aggressiveness | X | X | X | X | |
Self-injurious behavior | X | ||||
Sleep disorder | X | ||||
Circadian abnormalities | X | ||||
Attention deficit | X | X | X | X | X |
OCD | X | X | X | X | |
Anxiety disorders | X | X | |||
Psychosis | X | X | X | ||
Learning disability | X | X | X | ||
Mild intellectual disability | X | X | X | X | X |
Moderate intellectual disability | X | X | X | X | X |
Severe intellectual disability | X | X | X | ||
Language delay | X | X | X | X | |
Autistic features | X | X | X | X | |
Seizure disorders | X | X | X | ||
Obesity | X | X | |||
Cardiac abnormalities | X | X | X | ||
Urogenital abnormalities | X | ||||
Endocrine abnormalities | X | X | |||
Skeletal abnormalities | X | X | X | X | |
Facial abnormalities | X | X | X | X | X |
Frequency | 1:22,000 | 1:22,000 | Unknown | 1:2,000 | 1:15,000 |
Notes:
Chromosomal deletion syndromes and monogenic Mendelian disorders share many symptoms with psychiatric disorders, even though the disease course is not specific for any one single disorder. The presence of intellectual disability, facial abnormalities, and neurologic symptoms could indicate a genetic syndrome rather than a common complex psychiatric disorder.
Abbreviations: OCD, obsessive–compulsive disorder; OMIM, Online Mendelian Inheritance in Man; PWS, Prader–Willi syndrome; RAI, retinoic acid-induced 1 gene; SMS, Smith–Magenis syndrome; VCF, velo–cardio–facial syndrome.