Stimulant medication in 47,XYY syndrome: a report of two cases

Abstract

In two males, 11 and 12 years of age, referred for attention‐deficit‐hyperactivity disorder (ADHD), 47,XYY syndrome was diagnosed. A team that included a neuropsychologist, a physiotherapist, and a physician examined them. Stature (patients were above 97.5% height for age), muscle consistency, and tremor indicated chromosome analysis. Psychological tests results did not fully fit the ADHD diagnosis. On the basis of our clinical observation we felt that stimulant medication was indicated. Administration of methylphenidate led to improved motor and cognitive functions as well as social adaptation in both patients. We suggest that this treatment might well be considered in clinically similar patients with XYY sex chromosomes; we further suggest that learning problems in such individuals may be related to ADHD.

Biological factors underlying sex differences in neurological disorders

“…These findings provide evidence that regulation of Y-chromosome gene expression in the brain was independent of hormonal influence and may participate in the sexually dimorphic brain development and function. Several cases of 47, XYY and 48, XXYY boys were associated with ADHD (Ross et al, 2009;Ruud et al, 2005;Tartaglia et al, 2012) suggesting that over dosage of Y-chromosomes may increase the risk for neurological disorders. Whilst it is unclear which Y-chromosome gene(s) is involved in the physiology and pathophysiology of the male brain, emerging studies indicate that the testis-determining gene, SRY, is an ideal candidate to investigate (Czech et al, 2012;Dewing et al, 2006).…”

Assessing children with ADHD in primary care settings

“…Fragile X syndrome X [115] Myotonic dystrophy X [116] Neurofibromatosis type I X [117] Phenylketonuria X [118] Turner syndrome X [119] Klinefelter syndrome X [120] XYY X [121] Tuberous sclerosis X [122] Velocardiofacial syndrome X [123] Williams syndrome X [124] Prenatal and perinatal factors…”

Preverbal skills in 8-month-old children with sex chromosome trisomies

“…Similar to individuals with XXY, the general intelligence is usually in the normal range, with the mean slightly shifted to the left (Bender et al, 1984; Netley, 1986) and with possible deficits in verbal IQ relative to comparison groups (Leggett et al, 2010). Moreover, as in XXY syndrome, boys with XYY have an increased risk of delayed and impaired language development (Bender et al, 1984; Ratcliffe, 1982; Ross et al, 2009), hyperactivity and attention problems (Ruud et al, 2005), and consequent learning difficulties (Bender et al, 1984; Netley, 1986; Ross et al, 2009). Linden and Bender (2002) registered a delayed motor development and lack of motor coordination, that was confirmed by Ross et al (2009), but that appeared to be less pervasive than in XXY.…”