Asperger’s Disorder in an Adolescent With 47,XYY Chromosomal Syndrome

The condition 47,XYY aneuploidy is the result of an additional Y sex chromosome attached to the normal XY pairing in males. Although prevalence rates are difficult to determine in the population owing to the apparent rarity of the condition, estimates have generally been in the range of approximately 1 to 1.5 per 10 000 live births. However, among individuals considered tall, rates have been cited from 0.46% at 181 cm through to an estimated 10% or greater at heights more than 200 cm. Early research appeared to support XYY males being prone to violence and criminal behaviour. However, other studies convincingly challenged that hypothesis. Case examples have provided a picture of males with XYY as being generally tall, with high rates of mental illness, intellectual disability, and speech and language problems. Several cases have been reported of individuals with comorbid autism and XYY. The majority of these have been identified with Kanner-type classic autism. Furthermore, other studies have described individuals with XYY as having psychosis, extreme behavioral rigidity, or stereotyped language and behaviour before Rutter and the DSM-III provided clear criteria for identifying and diagnosing autism. In these latter cases, the subjects appear to have manifested with undiagnosed autism. The majority of individuals with XYY and autism spectrum disorders are reported as having low intellectual functioning. Furthermore, much of the research and clinical literature pertaining to XYY with individuals with other identified pathology has recorded details of intellectually low functioning participants. Only one case has been reported in the literature of XYY of an individual with Asperger’s disorder. However, little of the Asperger’s presentation was described by Gillberg et al in their review of 20 high-functioning individuals with autism spectrum disorders. The current case presents details of an adolescent with XYY and comorbid Asperger’s disorder. Prior to the assessment described herein, his behavioral difficulties were considered by consulting medical and allied health practitioners as a result of XYY chromosomal syndrome due to multiple assumptions based on stereotypes, rather than full consideration of his presentation. Given misinterpretation of the individual’s presenting features and a long delay in receiving an appropriate diagnosis, this child was severely disadvantaged by failing to receive appropriate intervention for many years. Alex (assumed name) was a 12-year-old male who was 182 cm tall at the time of his assessment. He was moderately overweight and unfit, partly due to his ceasing team sport because of difficulties he experienced with coping with the social dynamics of his peer group. Alex was referred for specialist psychological assessment as a result of violent behavior at school, including physically injuring other students. This conduct had resulted in multiple exclusions from school. It was also disclosed that Alex’s parents were using significant physical force, including hitting with a leather strap, to try and manage his behavior in the home. His aggressive behavior had been a long-term issue, with poorly developed coping strategies and significant challenges with self-control. On entering high school, Alex became the target of daily bullying in the classroom and playground that led to increased externalizing behavior. Alex was born full term after a 4.5-hour induced labor. He was 3.4 kg at birth and remained in hospital for 5 days. Alex had some feeding and weight gain problems in the first 2 weeks, but these passed. As a toddler he had chicken pox and also experienced frequent ear infections around age 2 years. Alex was reported to have reached his developmental milestones within normal limits, although demonstrating muscle hypotonia and significantly pronated feet. He had corrective procedures requiring his feet being in plaster and hospitalization at ages 4, 6, and 8 years. Alex had his hearing tested at 4 years and no problems were found.