What are the cognitive features of Klinefelter syndrome?

Updated: Mar 23, 2020
  • Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Contrary to other genetic syndromes that arise from chromosomal trisomy (eg, Down syndrome, trisomy 18), the overall cognitive abilities of males with Klinefelter syndrome typically are within the range of average intellectual ability. [24]  Most males with the 47,XXY karyotype have normal intelligence. Intellectual disability occurs in males with Klinefelter syndrome variants, who have a higher number of X chromosomes.

About 70% of patients have minor developmental and learning disabilities. These may include academic difficulties, delayed speech and language acquisition, diminished short-term memory, decreased data-retrieval skills, reading difficulties, dyslexia, and attention deficit disorder. Evidence for more general impairments in language has been consistent, with the most widely observed deficits having been reported in encoding of verbal information, auditory processing, comprehension, and processing speed. Expressive speech and verbal fluency are also affected. [25]

Behavioral problems and psychological distress are reported and may be due to poor self-esteem, compromised psychosocial development, or an inability to deal with stress. Psychiatric disorders with features of anxiety, depression, neurosis, and psychosis are more common than in the general population.

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