2 results
92 To know or not to know: A case of CADASIL highlighting the ethical dilemmas of genetic testing among families carrying a highly heritable neurological condition
- Alanna Coady, Jamie Piercy, Harry Miller
-
- Journal:
- Journal of the International Neuropsychological Society / Volume 29 / Issue s1 / November 2023
- Published online by Cambridge University Press:
- 21 December 2023, pp. 192-193
-
- Article
-
- You have access Access
- Export citation
-
Objective:
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary form of cerebral small vessel disease leading to early cerebrovascular changes. These changes result from mutations in the NOTCH3 gene that cause progressive accumulations of granular osmiophilic material (GOM) deposits, thickening arterial walls and reducing or restricting blood flow in the brain. The clinical presentation of CADASIL is characterized by migraines with aura, early and recurrent strokes, progressive cognitive impairment, and psychiatric disturbances. CADASIL is rare but frequently underrecognized or misdiagnosed. A genetic condition with a 50% risk of inheritance from an affected parent, the gold standard for diagnosis is genetic testing to determine the presence of mutations in the NOTCH3 gene. This presentation aims to familiarize neuropsychologists with the condition of CADASIL through a unique case study highlighting important psychological, social, and ethical considerations raised by genetic testing.
Participants and Methods:This case study presents a 67-year-old, right-handed, married female diagnosed with CADASIL who was referred for neuropsychological evaluation of cognitive function and low mood concerns following multiple ischemic events.
Results:Results revealed severe cognitive deficits in domains of attention, learning, and memory. Her superior verbal abilities and executive function remained largely intact. Assessment of mood revealed elevations in symptoms of depression and anxiety. The patient was aware of CADASIL in her father, paternal aunt, and younger brother, but elected to forego any genetic testing to confirm whether she had the condition until she experienced a stroke at age 61. She has two adult children who have also elected to forego testing and currently remain asymptomatic. Cognitive profile, mood disturbances, and patient perspectives on refraining from pre-symptomatic genetic testing for CADASIL diagnosis will be discussed.
Conclusions:Aspects of this case are consistent with a small body of literature evidencing distinct psychological, emotional, and social challenges among families carrying genetic risk of CADASIL. While providing an example of an often underrecognized neurological disorder with which neuropsychologists should be familiar, this case uniquely raises ethical questions relevant to care providers and current treatment guidelines regarding genetic testing among families carrying highly heritable neurological conditions. In particular, personal ethical challenges around deciding to pursue or forego pre-symptomatic testing, and implications for family planning, highlight the importance of genetic counseling for affected families.
1 Psychometric comparison of the long and short forms of the Personality Assessment Inventory in a neuropsychiatric population
- Alanna Coady, Megan Udala, Erwin Concepcion, Naomi Nystrom, Maya Libben, Jamie Piercy, Harry Miller
-
- Journal:
- Journal of the International Neuropsychological Society / Volume 29 / Issue s1 / November 2023
- Published online by Cambridge University Press:
- 21 December 2023, pp. 687-688
-
- Article
-
- You have access Access
- Export citation
-
Objective:
The Personality Assessment Inventory (PAI; Morey, 1991; 2007) is a 344 item self-report measure of personality, psychopathology, and factors affecting treatment. The PAI short form (PAI-SF) contains the first 160 items of the PAI and is often favoured as a screening tool or brief version to mitigate respondent burden and fatigue. The PAI has been psychometrically validated among numerous populations (Slavin-Mulford et al., 2012), while psychometric research on the PAI-SF is gradually emerging. The psychometric properties of the PAI-SF range from adequate to strong in psychiatric (Sinclair et al., 2009), forensic (Sinclair et al., 2010), outpatient and nonclinical (Ward et al., 2018), and stroke (Udala et al., 2020) samples. To advance research validating the PAI-SF among diverse populations, this project investigated the psychometric comparability between the PAI and the PAI-SF in a neuropsychiatric population. Based on previous literature, it was hypothesized that the PAI-SF would produce congruent results to the PAI in this sample.
Participants and Methods:For this study, participant files (N=214) were collected retrospectively from short- and long-term residential psychiatric and substance use treatment facilities in Minnesota for patients with neurological and cognitive concerns referred for neuropsychological evaluation. The PAI-SF was scored using the first 160 items from a patient’s long-form PAI protocol. To determine the psychometric comparability of long- and short-forms, paired-samples t-tests, intraclass correlations, and percent agreement in clinical classification between forms were analyzed.
Results:Analyses of participant data found that intra-class correlations ranged from .87 to .98 for each subscale on the PAI when compared to the PAI-SF, demonstrating good to excellent reliability between forms. Symptoms are considered clinically elevated when they exceed the clinical significance threshold for a subscale (typically a T-score of 70+). Agreement between the PAI and PAI-SF subscales in the classification of clinically elevated scores ranged from 86% to 100%. When forms did not agree, the PAI-SF was more likely to be clinically significant relative to the PAI. A comparison of subscale means between forms was examined by independent samples T-tests with a Bonferroni correction. Results revealed significant differences between the PAI and PAI-SF on one validity scale (Negative Impression Management), three clinical scales (Anxiety; Depression; Antisocial Features), and one treatment scale (Treatment Rejection).
Conclusions:Results demonstrated that the PAI and PAI-SF have high reliability between forms in a neuropsychiatric population. Although mean scores differed on a small number of subscales between the PAI and PAI-SF, differences did not appear sufficiently large enough to shift clinical classifications, as the two forms performed similarly in their identification of clinically elevated scales. Findings align with previous literature and suggest that the PAI-SF may perform adequately in a neuropsychiatric population if brevity or participant burden is of concern. However, caution is warranted when making clinical decisions with the PAI-SF as more research is needed.