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Gepubliceerd in: Neuropraxis 5/2011

01-10-2011 | UIT DE PRAKTIJK

Neurocognitieve aspecten van het turnersyndroom

Auteurs: Jan Scholiers, Fleur Verschuren

Gepubliceerd in: Neuropraxis | Uitgave 5/2011

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Samenvatting

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.
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Metagegevens
Titel
Neurocognitieve aspecten van het turnersyndroom
Auteurs
Jan Scholiers
Fleur Verschuren
Publicatiedatum
01-10-2011
Uitgeverij
Bohn Stafleu van Loghum
Gepubliceerd in
Neuropraxis / Uitgave 5/2011
Print ISSN: 1387-5817
Elektronisch ISSN: 1876-5785
DOI
https://doi.org/10.1007/s12474-011-0026-5

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