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Purpose of Study XXY syndrome (Klinefelter) and XXYY syndrome share a similar physical phenotype but differ in their behavioral phenotypes. Previous studies on XXY males describe academic difficulties and attentional problems, while reports of males with XXYY syndrome describe impulsivity, aggression, and anxiety. Despite multiple reports describing inattention, impulsivity, and behavioral problems in these groups, a study investigating the diagnosis of attention-deficit hyperactivity disorder (ADHD) and oppositional defiant disorder (ODD) in XXY and XXYY patients has not yet been described. The purpose of this study is to (1) compare rates and subtypes of ADHD and ODD in XXY and XXYY syndromes and (2) to describe response of ADHD symptoms to psychopharmacologic treatment in these 2 groups. Methods Parents and teachers of males 5 to 25 years with XXY (n = 15) or XXYY (n = 24) completed the SNAP-IV rating scale that contains the DSM-IV criteria for ADHD and ODD. Clinical history and review of medication effectiveness were obtained by interview and record review. Results 33% of males (5/15) with XXY syndrome met criteria for ADHD. 80% met criteria for ADHD-Inattentive subtype while 20% met criteria for the Combined subtype. 2 of 15 males with XXY (13%) met criteria for ODD, and both also had ADHD. In comparison, 70% (17/24) with XXYY syndrome met criteria for ADHD. 50% of XXYY males with ADHD had the Combined subtype, while the other 50% had the Inattentive subtype. 11 of 24 XXYY male children (46%) also met diagnostic criteria for ODD. Clinical history was consistent with SNAP-IV responses in all patients. Psychopharmacologic treatment of ADHD with stimulants was effective in 65% of patients, although XXYY patients were more likely to need additional medications. Conclusions ADHD is an important clinical consideration in patients with both XXY and XXYY syndrome. Rates of ADHD of 33% in XXY and 70% in XXYY patients are considerably higher than the 3-10% reported in the general population and have not been previously reported in these patients. Males with XXY are more likely to have symptoms of inattention while XXYY males are more likely to have the combined subtype of ADHD. Males with XXYY are more likely to have ODD than XXY males. Stimulant treatment for ADHD symptoms is effective in both groups, and specific psychopharmacologic interventions will be discussed.

Purpose of Study XXY syndrome (Klinefelter9s syndrome) is the most common form of sex chromosome aneuploidy in males. Due to a similar physical phenotype, XXYY syndrome has traditionally been classified as a variant of Klinefelter9s syndrome. A study directly comparing the cognitive and behavioral features of these two syndromes has not been completed. The purpose of this study is to compare the cognitive and behavioral features of males with XXY syndrome to males with XXYY syndrome. Methods Patients were recruited from national organizations for patients with sex chromosome aneuploidy. All participants were males between the ages of 2.5 and 20 and had either XXY or XXYY karyotype. All families underwent a clinical interview and parents completed the Behavior Assessment System for Children (BASC). Cognitive testing was obtained using the WASI. Results The patient groups consisted of XXY males (n = 15) and XXYY males (n = 20). There were no significant differences in age between groups (mean age XXY = 9, XXYY = 12). Cognitive measures were compared between groups using t-tests, with statistically significant differences (p Conclusions XXYY males have Verbal and Full-Scale IQ9s significantly lower than males with XXY; however, their performance IQ does not significantly differ. XXYY males are more likely than XXY males to have problems with hyperactivity, aggression, conduct, atypicality, and depression. XXYY males also have significantly lower adaptive functioning than males with XXY syndrome. XXY males with lower IQs are more likely to have externalizing behavior, while IQ does not correlate with externalizing behaviors in XXYY syndrome. Although XXYY syndrome shares some physical features with XXY syndrome, XXYY syndrome appears to have a unique cognitive and behavioral profile and should be distinguished as its own behavioral phenotype.

Purpose of Study XXY syndrome (Klinefelter9s syndrome) is the most common form of sex chromosome aneuploidy in males. Due to a similar physical phenotype, XXYY syndrome has traditionally been classified as a variant of Klinefelter9s syndrome. A study directly comparing the cognitive and behavioral features of these two syndromes has not been completed. The purpose of this study is to compare the cognitive and behavioral features of males with XXY syndrome to males with XXYY syndrome. Methods Patients were recruited from national organizations for patients with sex chromosome aneuploidy. All participants were males between the ages of 2.5 and 20 and had either XXY or XXYY karyotype. All families underwent a clinical interview and parents completed the Behavior Assessment System for Children (BASC). Cognitive testing was obtained using the WASI. Results The patient groups consisted of XXY males (n = 15) and XXYY males (n = 20). There were no significant differences in age between groups (mean age XXY = 9, XXYY = 12). Cognitive measures were compared between groups using t-tests, with statistically significant differences (p Conclusions XXYY males have Verbal and Full-Scale IQ9s significantly lower than males with XXY; however, their performance IQ does not significantly differ. XXYY males are more likely than XXY males to have problems with hyperactivity, aggression, conduct, atypicality, and depression. XXYY males also have significantly lower adaptive functioning than males with XXY syndrome. XXY males with lower IQs are more likely to have externalizing behavior, while IQ does not correlate with externalizing behaviors in XXYY syndrome. Although XXYY syndrome shares some physical features with XXY syndrome, XXYY syndrome appears to have a unique cognitive and behavioral profile and should be distinguished as its own behavioral phenotype.