Behavioral features in young adults with FG syndrome (Opitz-Kaveggia syndrome).
Opitz and Kaveggia [Opitz and Kaveggia (1974); Z Kinderheilkd 117:1-18] reported on a family of five affected males with distinctive facial appearance, mental retardation, macrocephaly, imperforate anus, and hypotonia. Risheg et al. [Risheg et al. (2007); Nature Genetics 39:451-453] identified an identical mutation (p.R961W) in MED12 in six families with Opitz-Kaveggia syndrome, including a surviving affected man from the original family reported in 1974. The previously described behavior phenotype of hyperactivity, affability, and excessive talkativeness is very frequent in young boys with FG syndrome, along with socially oriented, attention-seeking behaviors. We present case studies of five adult males who were previously published with the clinical diagnosis of FG syndrome and then subsequently proven by Risheg et al. [Risheg et al. (2007); Nature Genetics 39:451-453] to have the recurrent p.R961W mutation. These individuals had episodic and longstanding behavior patterns, sometimes aggressive or self-abusing, that occurred more frequently in puberty and early adulthood. We try to describe the triggers for these behaviors, indicate how these behaviors change with advancing age, and suggest specific recommendations and interventional strategies based on the clinical histories of affected adolescent males with FG syndrome [Graham et al., 2008; Clark et al., 2009]. Young men who exhibit these behaviors may benefit from a careful examination to detect medical problems, use of mood stabilizers if needed, and/or behavioral intervention. The transition to a community living situation can be challenging without careful planning and timely behavioral intervention. They remain impulsive and can have aggressive outbursts when making the transition to adult life, but these challenges can be managed, as demonstrated by these clinical histories.
Graham
John M
JM
Medical Genetics Institute at Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA. john.graham@cshs.org
Clark
Robin D
RD
Moeschler
John B
JB
Rogers
R Curtis
RC
D000015:Abnormalities, Multiple / Q000503:physiopathology*; D055673:Acrocallosal Syndrome / Q000235:genetics / Q000503:physiopathology; D000293:Adolescent; D000328:Adult; D000367:Age Factors; D061085:Agenesis of Corpus Callosum; D000374:Aggression / Q000502:physiology*; D001006:Anus, Imperforate / Q000235:genetics / Q000503:physiopathology; D001519:Behavior / Q000502:physiology*; D003248:Constipation / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D007175:Impulsive Behavior / Q000503:physiopathology*; D008607:Intellectual Disability / Q000503:physiopathology*; D008297:Male; D056892:Mediator Complex / Q000235:genetics; D038901:X-Linked Intellectual Disability / Q000235:genetics / Q000503:physiopathology; D009123:Muscle Hypotonia / Q000151:congenital / Q000235:genetics / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D016728:Self-Injurious Behavior / Q000503:physiopathology*
C460107:MED12 protein, human; D056892:Mediator Complex