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50 The Neuropsychological Profile of S/A/3A-Related Disorder/Witteveen-Kolk Syndrome: A Case Study
- Anthony R Gioia, Nina H Thomas
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- Journal:
- Journal of the International Neuropsychological Society / Volume 29 / Issue s1 / November 2023
- Published online by Cambridge University Press:
- 21 December 2023, pp. 656-657
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Objective:
The SIN3A gene mutation is a rare genetic mutation with few reported cases (< 1 in 1,000,000) associated with autosomal dominant Witteveen-Kolk Syndrome, a rare neurodevelopmental syndrome only discussed in the past decade (Witteveen et al., 2016). This syndrome can be characterized by short stature, distinctive facial features, developmental delay, mild intellectual disability, autism spectrum disorder, hypotonia, and seizures (Balasubramanian et al., 2021), however a paucity of information regarding comprehensive neuropsychological functioning in these individuals is present in the literature, and even this recent review study noted that intellectual ability was rarely assessed through formal testing (6 of 28 cases). We present a case, “M”, to help describe a potential pattern of neurocognitive strengths and weaknesses in this population.
Participants and Methods:The participant, “M”, was diagnosed with a de novo mutation in the SIN3A gene at the age of 11 years with previous diagnoses of global developmental delay, hypotonia, autism spectrum disorder, specific learning disability in mathematics, developmental coordination disorder, and attention deficit hyperactivity disorder. M was seen for a comprehensive neuropsychological evaluation at 11 years of age at an academic medical center, which consisted of comprehensive review of medical and school records, parent and child interview, questionnaires, and performance-based testing.
Results:M’s verbal and language skills emerged as a particular strength. Her verbal memory, verbal fluency, and verbal comprehension skills were all in the average range or above, as were reading, reading comprehension, and spelling skills. M demonstrated a pattern of notable weaknesses in visuospatial skills, including impaired visuospatial reasoning, visuomotor integration, visual scanning, visual perception, and visual memory. Additionally, M demonstrated a slight weakness in Low Average mathematics skills. M also demonstrated fine motor impairment with impaired speed, coordination, and accuracy. Although immediate auditory attention was noted to be average, performance on a test of sustained attention indicated a moderate persistence of attention concerns. Likewise, M’s mother reported her to be very elevated on symptoms of both attention and hyperactivity/impulsivity. Finally, M’s mother reported elevated concerns related to M’s peer relations and atypical behaviors and below average adaptive skills.
Conclusions:Due to the rarity of M’s de novo mutation in the SIN3A gene, M’s pattern of weaknesses in visuospatial skills, fine motor skills, attention/executive functioning, and social skills, as well as her strengths in verbal skills can aid in further understanding the pattern of cognitive strengths and weaknesses in children with a mutation in the SIN3A gene. Additionally, given her mild weaknesses in math skills, it is possible that M’s performance on mathematics assessments may be impacted by her visuospatial weakness and thus better conceptualized as a visuospatial issue rather than a learning disability. Overall, this case can aid in identifying specific cognitive risk factors, such as visuospatial skills, in this population and lead to more targeted assessment and intervention, and highlights the importance of more nuanced cognitive evaluation as reporting of a general cognitive ability score alone may obscure underlying patterns of cognitive strength and weakness.
Reporting of Demographic Variables in Neuropsychological Research: An Update of O’Bryant et al.’s Trends in the Current Literature
- Luis D. Medina, Stephanie Torres, Anthony Gioia, Andrea Ochoa Lopez, James Wang, Paul T. Cirino
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- Journal:
- Journal of the International Neuropsychological Society / Volume 27 / Issue 5 / May 2021
- Published online by Cambridge University Press:
- 12 November 2020, pp. 497-507
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Objective:
Demographic trends and the globalization of neuropsychology have led to a push toward inclusivity and diversity in neuropsychological research in order to maintain relevance in the healthcare marketplace. However, in a review of neuropsychological journals, O’Bryant et al. found systematic under-reporting of sample characteristics vital for understanding the generalizability of research findings. We sought to update and expand the findings reported by O’Bryant et al.
Method:We evaluated 1648 journal articles published between 2016 and 2019 from 7 neuropsychological journals. Of these, 1277 were original research or secondary analyses and were examined further. Articles were coded for reporting of age, sex/gender, years of education, ethnicity/race, socioeconomic status (SES), language, and acculturation. Additionally, we recorded information related to sample size, country, and whether the article focused on a pediatric or adult sample.
Results:Key variables such as age and sex/gender (both over 95%) as well as education (71%) were frequently reported. Language (20%) and race/ethnicity (36%) were modestly reported, and SES (13%), and acculturation (<1%) were more rarely reported. SES was more commonly reported in pediatric than adult samples, and the opposite was true for education. There were differences between the present results and those of O’Bryant et al., though the same general trends remained.
Conclusions:Reporting of demographic data in neuropsychological research appears to be slowly changing toward greater comprehensiveness, though clearly more work is needed. Greater systematic reporting of such data is likely to be beneficial for the generalizability and contextualization of neurocognitive function.