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

Ruud, Anne; Arnesen, Peter; Stray, Liv Larsen; Vildalen, Stéphane; Vesterhus, Per

doi:10.1017/s001216220500109x

Cited by 22 publications

(13 citation statements)

References 11 publications

(12 reference statements)

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“…Together, these findings indicate that Y-chromosome gene expression in the brain is independent of hormonal influence, suggesting that Y chromosome genes could contribute to sexually dimorphic brain development and function. In support, several clinical studies have reported ADHD diagnosis in 47, XYY and 48, XXYY boys [299,311,312] which suggests that a dosage-effect of Y-chromosome genes may increase the risk of males to neurological disorders. Whilst it is unclear which Y-chromosome gene(s) have a physiological role in the male brain, emerging studies indicate that the male-sex determining gene, SRY, is an ideal candidate to investigate [26,280].…”

Section: Role Of Sex Hormones and Sex Chromosome Genes In Susceptimentioning

confidence: 81%

Sex: A Significant Risk Factor for Neurodevelopmental and Neurodegenerative Disorders

et al. 2018

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Males and females sometimes significantly differ in their propensity to develop neurological disorders. Females suffer more from mood disorders such as depression and anxiety, whereas males are more susceptible to deficits in the dopamine system including Parkinson’s disease (PD), attention-deficit hyperactivity disorder (ADHD) and autism. Despite this, biological sex is rarely considered when making treatment decisions in neurological disorders. A better understanding of the molecular mechanism(s) underlying sex differences in the healthy and diseased brain will help to devise diagnostic and therapeutic strategies optimal for each sex. Thus, the aim of this review is to discuss the available evidence on sex differences in neuropsychiatric and neurodegenerative disorders regarding prevalence, progression, symptoms and response to therapy. We also discuss the sex-related factors such as gonadal sex hormones and sex chromosome genes and how these might help to explain some of the clinically observed sex differences in these disorders. In particular, we highlight the emerging role of the Y-chromosome gene, SRY, in the male brain and its potential role as a male-specific risk factor for disorders such as PD, autism, and ADHD in many individuals.

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Section: Role Of Sex Hormones and Sex Chromosome Genes In Susceptimentioning

confidence: 81%

Sex: A Significant Risk Factor for Neurodevelopmental and Neurodegenerative Disorders

et al. 2018

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“…Historically, studies of adults with XYY ascertained subjects from samples of men who were tall, 9,14 or had psychiatric diagnoses or behavior problems. 5,15 A few studies describe cohorts diagnosed by newborn screening, 1,6,7,10,16,17 which are likely to best reflect the true diversity of the phenotype. However, because these studies are rare and most newborn screening programs do not include analysis of sex chromosome or karyotype, recent studies typically describe boys diagnosed for clinical reasons.…”

mentioning

confidence: 99%

47,XYY Syndrome: Clinical Phenotype and Timing of Ascertainment

Bardsley¹,

Kowal²,

Levy³

et al. 2013

The Journal of Pediatrics

143

155

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Objective To describe auxologic, physical, and behavioral features in a large cohort of males with 47,XYY (XYY), ages newborn to young adult. Study design This is a cross-sectional descriptive study of male subjects with XYY who were evaluated at 1 of 2 specialized academic sites. Subjects underwent a history, physical examination, laboratory testing, and cognitive/behavioral evaluation. Results In 90 males with XYY (mean age 9.6 ± 5.3 years [range 0.5-36.5]), mean height SD was above average (1.0 ± 1.2 SD). Macrocephaly (head circumference >2 SD) was noted in 28/84 (33%), hypotonia in 57/90 (63%), clinodactyly in 47/90 (52%), and hypertelorism in 53/90 (59%). There was testicular enlargement for age (>2 SD) in 41/82 (50%), but no increase in genital anomalies. No physical phenotypic differences were seen in boys diagnosed prenatally vs postnatally. Testosterone, luteinizing hormone, and follicle stimulating hormone levels were in the normal range in most boys. There was an increased incidence of asthma, seizures, tremor, and autistic spectrum disorder (ASD) compared with the general population rates. Prenatally diagnosed boys scored significantly better on cognitive testing and were less likely to be diagnosed with ASD (P < .01). Conclusions The XYY phenotype commonly includes tall stature, macrocephaly, macroorchidism, hypotonia, hypertelorism, and tremor. Physical phenotypic features were similar in boys diagnosed prenatally vs postnatally. Prenatal diagnosis was associated with higher cognitive function and less likelihood of an ASD diagnosis.

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“…Attentional problems, hyperactivity, and impulsivity are commonly described as behavioral features that can be associated with SCA conditions such as XXY/Klinefelter syndrome (KS) and XYY syndrome, and cases of attention-deficit hyperactivity disorder (ADHD) have been reported in individual case reports and case series. 2,3 Descriptive studies in XYY (n = 26) and XXYY (n = 79) have used survey data to report clinical diagnoses of ADHD in 11% of males with XYY and 72% of males with XXYY. 4,5 A 2009 study by Bruining et al 6 was the first to apply the DSM-IV diagnostic criteria to a cohort of pediatric subjects with XXY/KS, and 63% (32/51) of this self-selected cohort met criteria for a diagnosis of ADHD.…”

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confidence: 99%

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

Tartaglia

Ayari²,

Hutaff-Lee³

et al. 2012

Journal of Developmental &Amp; Behavioral Pediatrics

105

107

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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.

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

Cited by 22 publications

References 11 publications

Sex: A Significant Risk Factor for Neurodevelopmental and Neurodegenerative Disorders

Sex: A Significant Risk Factor for Neurodevelopmental and Neurodegenerative Disorders

47,XYY Syndrome: Clinical Phenotype and Timing of Ascertainment

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

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