Attention-Deficit Hyperactivity Disorder Symptoms in Children and Adolescents with Sex Chromosome Aneuploidy

Abstract

Objective Attentional problems, hyperactivity, and impulsivity have been described as behavioral features associated with sex chromosome aneuploidy (SCA). In this study, the authors compare attention-deficit hyperactivity disorder (ADHD) symptoms in 167 participants aged 6 to 20 years with 4 types of SCA (XXY n = 56, XYY n = 33, XXX n = 25, and XXYY n = 53). They also evaluate factors associated with ADHD symptomatology (cognitive and adaptive scores, prenatal vs postnatal ascertainment) and describe the clinical response to psychopharmacologic medications in a subset of patients treated for ADHD. Methods Evaluation included medical and developmental history, cognitive and adaptive functioning assessment, and parent and teacher ADHD questionnaires containing DSM-IV criteria. Results In the total study group, 58% (96/167) met DSM-IV criteria for ADHD on parent-report questionnaires (36% in XXY, 52% in XXX, 76% in XYY, and 72% in XXYY). The Inattentive subtype was most common in XXY and XXX, whereas the XYY and XXYY groups were more likely to also have hyperactive/impulsive symptoms. There were no significant differences in Verbal, Performance, or Full Scale IQ between children with symptom scores in the ADHD range compared with those below the ADHD range. However, adaptive functioning scores were significantly lower in the group whose scores in the ADHD range were compared with those of the group who did not meet ADHD DSMIV criteria. Those with a prenatal diagnosis of XXY were less likely to meet criteria for ADHD compared with the postnatally diagnosed group. Psychopharmacologic treatment with stimulants was effective in 78.6% (66/84). Conclusions Children and adolescents with SCA are at increased risk for ADHD symptoms. Recommendations for ADHD evaluation and treatment in consideration of other aspects of the SCA medical and behavioral phenotype are provided.

Counseling parents before prenatal diagnosis: Do we need to say more about the sex chromosome aneuploidies?

“…In the literature, incidental PD of sex chromosomal aneuploidies is indeed more often associated with normal to mildly affected phenotypes [Fryns et al, 1995;Pieters et al, 2011;Tartaglia et al, 2012]. This contrasts sharply with phenotypes of postnatally diagnosed sex chromosomal aneuploidies thereby highlighting the importance of this kind of ascertainment bias with respect to the Box 1 Pre-test genetic counseling 1.…”

“…hemisphere) [Leggett et al, 2010;Tartaglia et al, 2012]. Individuals with 47,XXY will need endocrinological evaluation at 8-10 years of age and possible treatment after counseling about the chance of sperm cryo-conservation [Foresta et al, 1999;Oates, 2012].…”

Is it all the X: Familial learning dysfunction and the impact of behavioral aspects of the phenotypic presentation of XXY?

“…Early studies described boys with XXY as timid, aggressive, disruptive, and as having low self-esteem and social immaturity [Bancroft et al, 1982;Mandoki and Sumner, 1991]. Social anxiety, ADHD, social communication, and atypical peer interactions comprise some of the features of XXY newly described [Ross et al, 2005;Bishop et al, 2010;van Rijn et al, 2011;Savic, 2012;Stochholm et al, 2012;Tartaglia et al, 2012]. ADHD has been reported as a major behavioral deficit in boys with 47,XXY with an incidence ranging from 34% to 63% [Giedd et al, 2007;Bruining et al, 2010;Ross et al, 2012;Tartaglia et al, 2012].…”

Behavioral Inhibition in Boys with Sex Chromosome Aneuploidies Compared to a Clinical Sample

“…Mean IQ tends to be lower and in the borderline to mild mental retardation range for tetrasomy conditions (Gravholt 2013). In terms of socioemotional problems, increased levels of anxiety, depression, attention deficit hyperactivity disorder symptoms, and behavior problems have been found in studies of boys with SCA Tartaglia et al 2012;Turriff et al 2011).…”