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Background <p>Sex chromosome aberrations affect approximately 1.5 per 1000 individuals, although somatically inconspicuous phenotypes can remain undetected. Even when diagnosed, the elevated risk of neuropsychiatric manifestations needs to be specifically addressed in psychiatric care.</p> Methods <p>This narrative review analyzes the current literature on neuropsychiatric manifestations of sex chromosome syndromes, focusing on the four most common forms (Klinefelter, Turner, XYY and triple‑X syndromes).</p> Results <p>Sex chromosome aberrations show characteristic neuropsychiatric manifestations. Frequent psychiatric manifestations include attention deficit hyperactivity disorder, autism spectrum disorders, anxiety disorders, affective and psychotic disorders. Cognitive impairments affect the majority of individuals and are manifested in speech developmental disorders, executive dysfunctions or visuospatial deficits. Severe intellectual impairments are rare (&lt; 5–10%).</p> Conclusion <p>Heightened clinical attention to neuropsychiatric manifestations of sex chromosome aberrations facilitates earlier diagnosis and access to developmental, psycho(pharmaco)logical and endocrinological treatment approaches to improve the quality of life and social participation of those affected.</p>

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Neuropsychiatrische Manifestationen geschlechtschromosomaler Aberrationen – klinische und therapeutische Aspekte der neurologisch-psychiatrischen Versorgung

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年6月2日

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  • Heiko Paland,
  • Alexandra Philipsen,
  • Eva C. Schulte

摘要

Background

Sex chromosome aberrations affect approximately 1.5 per 1000 individuals, although somatically inconspicuous phenotypes can remain undetected. Even when diagnosed, the elevated risk of neuropsychiatric manifestations needs to be specifically addressed in psychiatric care.

Methods

This narrative review analyzes the current literature on neuropsychiatric manifestations of sex chromosome syndromes, focusing on the four most common forms (Klinefelter, Turner, XYY and triple‑X syndromes).

Results

Sex chromosome aberrations show characteristic neuropsychiatric manifestations. Frequent psychiatric manifestations include attention deficit hyperactivity disorder, autism spectrum disorders, anxiety disorders, affective and psychotic disorders. Cognitive impairments affect the majority of individuals and are manifested in speech developmental disorders, executive dysfunctions or visuospatial deficits. Severe intellectual impairments are rare (< 5–10%).

Conclusion

Heightened clinical attention to neuropsychiatric manifestations of sex chromosome aberrations facilitates earlier diagnosis and access to developmental, psycho(pharmaco)logical and endocrinological treatment approaches to improve the quality of life and social participation of those affected.