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Neurocognitieve aspecten van het turnersyndroom

  • UIT DE PRAKTIJK
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Neuropraxis

Het syndroom van Turner (TS) ontstaat door het partieel of volledige ontbreken van het X-chromosoom. TS komt voor bij één op ongeveer 2000 levend geboren meisjes en is een van de meest voorkomende chromosomale afwijkingen. Het syndroom wordt onder meer gekenmerkt door een korte lichaamslengte, ovariële dysgenese, oestrogeendeficiëntie en verhoogd risico voor cardiovasculaire aandoeningen (Kesler, 2007). Meisjes met de diagnose kunnen vanaf zesjarige leeftijd behandeld worden met groeihormoon en vanaf twaalf jaar met oestrogeensubstitutie.

Vrouwen met TS zijn doorgaans normaal begaafd, maar ze kunnen problemen hebben met taken die visueel-ruimtelijk inzicht vereisen of waarbij combinaties en samenhang gezocht moeten worden. We stellen twee casussen voor. Bij aanmelding van beide patiënten werd gedacht aan een diagnose binnen het autismespectrum. Het gelijkend neuropsychologisch profiel en sociaal angstig gedrag blijken typisch voor TS maar atypisch voor autisme. Na de gevalsbeschrijvingen doorzoeken we de wetenschappelijke literatuur naar bevindingen die onze observaties bevestigen en naar mogelijke verklaringen voor het optreden van typische gedragskenmerken bij TS. Hierbij gaan we in op de cognitieve ontwikkeling, de psychiatrische comorbiditeit, en de genetische en hormonale factoren.

Abstract

The psychosocial functioning in Turner Syndrome (TS) is often hampered and needs attention in medical practice. The cognitive-behavioral phenotype associated with TS includes strengths in verbal intelligence and impairments in visualspatial executive function and emotion processing. Women with TS have an increased risk of developing anxiety disorders, depression and ADHD. Social phobic symptoms and autism spectrum condition are difficult to differentiate in TS. Psychotherapeutic treatment should consider the individual’s cognitive profile, emphasize on improving self-esteem and problem solving skills and stressmanagement training.

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Authors and Affiliations

  1. Regionaal Geestelijk Gezondheidscentrum Emergis, Wielingenlaan 2, 4535 PA, Terneuzen, The Netherlands

    Jan Scholiers

  2. Regionaal Geestelijk Gezondheidscentrum Emergis, Wielingenlaan 2, 4535 PA, Terneuzen, The Netherlands

    Fleur Verschuren

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  1. Jan Scholiers
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  2. Fleur Verschuren
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psychiater, gz-psychologe en seksuologe

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Scholiers, J., Verschuren, F. Neurocognitieve aspecten van het turnersyndroom. NEUROPRAXIS 15, 138–142 (2011). https://doi.org/10.1007/s12474-011-0026-5

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