Neuropsychological Profile of a Girl with Wiskott-Aldrich Syndrome.

Abstract

We report the neuropsychological profile of a 6-year-old girl with Wiskott-Aldrich syndrome, a rare X-linked immunodeficiency disorder associated with thrombocytopenia, eczema, recurrent infections, and malignancy. Wiskott-Aldrich syndrome occurs almost exclusively in males and is extremely rare in females, with no known research focused on cognitive and academic functioning in this population. Our patient was referred due to concerns about her memory and academic functioning. She had a history of progressive thrombocytopenia and hematopoietic stem cell transplantation at age 15 months. Standardized measures of intellectual ability, language, visual-spatial and visual-motor skills, attention, memory, and academic achievement were administered. The results showed average to above-average performance in multiple areas of cognitive and academic functioning, with weaknesses in phonological awareness and rapid naming. The advent of hematopoietic stem cell transplantation has led to considerable improvement in the long-term prognosis of children with Wiskott-Aldrich syndrome. Although the impact of this syndrome and related conditions on neurocognitive development is presently unknown, this case highlights both the importance of considering base rates for commonly occurring conditions and the significant role neuropsychology can play in identifying cognitive strengths and weaknesses in the context of the developing brain.

• Authors: Andrea M Byrne, Tal Schechter, Robyn Westmacott
• Journal: Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology (Cogn Behav Neurol) Vol. 31 Issue 1 Pg. 13-17 (03 2018) ISSN: 1543-3641 [Electronic] United States
• PMID: 29561314 (Publication Type: Case Reports, Journal Article)

Topics

• Child
• Female
• Humans
• Neuropsychological Tests
• Wiskott-Aldrich Syndrome (diagnosis, pathology)