Case report: neuropsychological assessment in a patient with 4H leukodystrophy.

Objective: POLR3-HLD or 4H leukodystrophy is an autosomal recessive disorder characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, and caused by variants in POLR3A, POLR3B, POLR1C, or POLR3K genes. Neurological and non-neurological clinical features and disease severity vary. While previous studies reference variable cognition, this is the first report of 4H detailing a comprehensive neuropsychological assessment. Method: The current study presents a 20-year-old, English-speaking, right-handed, non-Hispanic White female with 12 years of education with genetically confirmed 4H POLR3B-related leukodystrophy without hormonal replacement treatment. Results: At age 4, developmental delays, ataxia, hearing loss, and abnormal dentition were present. Imaging, endocrinology, and neurologic examinations revealed hypomyelination, reduced cerebellar volume, delayed bone age density, osteopenia, and evidence of adrenarche without signs of true puberty. Neuropsychological assessment at age 20 revealed global cognitive impairment with intellectual, attention, verbal memory retrieval, construction, executive (e.g. processing speed, sustained attention) and math computation deficits, along with behavioral dysregulation. Conclusion: We present the first detailed neuropsychological assessment of a patient with 4H leukodystrophy. The neuropsychological assessment revealed cognitive and behavioral dysexecutive deficits aligning with hypomyelination observed on imaging. Further longitudinal studies are needed to shed light on the neurobehavioral presentation associated with this disorder to assist care providers, patients, and their families.

Sociodemographic, cultural, linguistic, and test selection considerations for clinical neuropsychological assessment with Japanese and Japanese-American patients in the United States.

Objective: Japanese-Americans are the sixth largest Asian ethnicity in the United States and represent a highly heterogeneous population. Despite representing a large and diverse group, relatively little attention has been paid to clinical best practices for working with this population in the West, particularly for Japanese speakers and issei (first-generation in the United States). This paper offers guidance for providing competent neuropsychological services to Japanese-Americans. Method: Pertinent facets of Japanese culture are presented within the context of the ECLECTIC framework (education and literacy, culture and acculturation, language, economics, communication, testing situation: comfort and motivation, intelligence conceptualization, and context of immigration; Fujii, 2018). The available literature on clinical neuropsychological tests that are translated into Japanese and normed with Japanese samples was reviewed. Results: Specific recommendations for clinicians providing neuropsychological services to Japanese-Americans are presented with an aim of maximizing test fairness by addressing the following issues: comfort with the testing situation, test biases, accessibility, and validity (American Educational Research Association et al., 2014). Additional recommendations for the use of teleneuropsychology; working with geriatric, pediatric, and multiracial populations; and providing useful recommendations and feedback from clinical assessment are provided. Measures that are appropriately translated and/or adapted for use with Japanese populations are presented by cognitive domain to assist clinicians with test selection. Conclusions: This paper provides concrete recommendations for Western neuropsychologists working with patients of Japanese descent in order to address the current gap in cultural competence among clinicians when working with this heterogeneous population.

Cross-validating the Clinical Assessment of Attention Deficit-Adult symptom validity scales for assessment of attention deficit/hyperactivity disorder in adults.

INTRODUCTION: The Clinical Assessment of Attention Deficit-Adult is among the few questionnaires that offer validity indicators (i.e., Negative Impression [NI], Infrequency [IF], and Positive Impression [PI]) for classifying underreporting and overreporting of attention-deficit/hyperactivity disorder (ADHD) symptoms. This is the first study to cross-validate the NI, IF, and PI scales in a sample of adults with suspected or known ADHD. METHOD: Univariate and multivariate analyses were conducted to examine the independent and combined value of the NI, IF, and PI scores in predicting invalid symptom reporting and neurocognitive performance in a sample of 543 adults undergoing ADHD evaluation. RESULTS: The NI scale demonstrated better classification accuracy than the IF scale in discriminating patients with and without valid scores on measures of overreporting. Only NI scores significantly predicted validity status when used in combination with IF scores. Optimal cut-scores for the NI (≤51; 30% sensitivity / 90% specificity) and IF (≥4; 18% sensitivity / 90% specificity) scales were consistent with those reported in the original manual; however, these indicators poorly discriminated patients with invalid and valid neurocognitive performance. The PI scale demonstrated acceptable classification accuracy in discriminating patients with invalid and valid scores on measures of underreporting, albeit with an optimal cut-score (≥27; 36% sensitivity / 90% specificity) lower than that described in the manual. CONCLUSION: Findings provide preliminary evidence of construct validity for these scales as embedded validity indicators of symptom overreporting and underreporting. However, these scales should not be used to guide clinical judgment regarding the validity of neurocognitive test performance.