BackgroundAngelman syndrome (AS) is a rare disorder with a relatively well-defined phenotype. Despite this, very little is known regarding the unmet clinical needs and burden of this condition, especially with regard to some of the most prevalent clinical features—movement disorders, communication impairments, behavior, and sleep.Main textA targeted literature review using electronic medical databases (e.g., PubMed) was conducted to identify recent studies focused on specific areas of the AS phenotype (motor, communication, behavior, sleep) as well as epidemiology, diagnostic processes, treatment, and burden. 142 articles were reviewed and summarized. Findings suggest significant impairment across the life span in all areas of function. While some issues may resolve as individuals get older (e.g., hyperactivity), others become worse (e.g., movement disorders, aggression, anxiety). There are no treatments focused on the underlying etiology, and the symptom-based therapies currently prescribed do not have much, if any, empirical support.ConclusionsThe lack of standardized treatment protocols or approved therapies, combined with the severity of the condition, results in high unmet clinical needs in the areas of motor functioning, communication, behavior, and sleep for individuals with AS and their families.

Clinical neuropsychologists who assess patients from diverse cultural and linguistic backgrounds face unique ethical challenges. In this article, we address 4 critical questions relevant to ethics of cross-cultural neuropsychology: (a) Should culture or race be considered in neuropsychological testing? (b) Should race- and ethnicity-specific normative data be used in the clinical neuropsychological evaluation? (c) Who is competent to design and translate tests for ethnic minority groups and non-English speakers and who is competent to administer and interpret them? and (d) Are neuropsychology training programs adequately preparing clinicians to be competent in the assessment of cross-cultural groups? The overall aims of the article are to highlight the complexity of these clinical and ethical issues, to provide comprehensive and balanced information to help guide clinician choices, and to stimulate future research in this area.

Background Angelman syndrome (AS) is a rare, neurological genetic disorder for which no clinical outcomes assessments (COAs) or conceptual models (CM) have been developed. Objective This study aimed to identify symptoms and impacts relevant and important in this patient population and develop a conceptual model of AS, and to evaluate the content validity of selected COA instruments with potential for inclusion in clinical studies of AS to capture treatment benefit.

Objective: Accurate identification of the earliest cognitive changes associated with Alzheimer's disease (AD) is critically needed. Item-level information within tests of category fluency, such as lexical frequency, harbors valuable information about the integrity of semantic networks affected early in AD.To determine the potential of lexical frequency as a cognitive marker of AD risk, we investigated whether lexical frequency of animal fluency output differentiated APOE ε4 carriers from noncarriers in a cross-sectional design among older African-American adults without dementia. Method: We analyzed animal fluency performance using mean number of items and mean lexical frequency among 230 cognitively normal African Americans with and without the APOE ε4 allele. Results: Lexical frequency was higher in APOE ε4 carriers than noncarriers when analyzed as a mean score and within time bins. In contrast, we found no group difference in the number of items produced. Lexical frequency was particularly sensitive to ε4 status after the first 10 s of the 60-s animal fluency task. Conclusion: Our results suggest that psycholinguistic features may hold value as a cognitive biomarker for identifying people at high risk of AD. General Scientific SummaryDecline in cognition occurs years before the symptoms are distinct enough to establish a clinical diagnosis of Alzheimer's disease (AD) based on traditional neuropsychological test scores. We showed that an alternative, psycholinguistic score of the category fluency task could predict AD genetic risk (having the APOE ε4 allele) in older adults whose overall cognition and function are within normal limits. These results suggest that psycholinguistic features may hold value as a cognitive biomarker for identifying people at high risk of AD.

Background The objective of this study is to describe healthcare resource utilization (HRU) and supportive therapy utilization (STU) among individuals with Angelman syndrome (AS), and to compare such usage by molecular etiology. Methods Participants were categorized into deletion and non‐deletion genotypes. Statistical differences were assessed using an independent samples t test. Results Data were available on 302 individuals. Mean age of participants was 5.5 years, 92% of whom were less than 13 years, and 71% had the deletion etiology. About 68% of participants had at least one hospitalization since birth to enrollment in the study; the average number of hospitalizations during that time period was 2.3 and average length of stay was 4.5 days. The most common reasons for hospitalization were seizures, lower respiratory infections, and surgery. The most common reasons for surgery were myringotomy, strabismus surgery, tonsillectomy or adenoidectomy, and gastrostomy tube insertion/fundoplication. Anticonvulsants, gastroesophageal reflux disease, sleep, and behavioral medications were the most commonly prescribed drugs. STU was high among individuals with AS. Conclusions This study shows that individuals with AS have high HRU/STU, and apart from a few differences, HRU/STU was similar across molecular etiology. These results reflect usage in younger individuals and studies that describe HRU/STU in older individuals are needed.