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Single‐case design research has gained recognition as a credible scientific methodology across a variety of fields of study. Uniquely suited to support research on topics related to rare disorders or in instances where access to large sample sizes is unfeasible, single‐case designs have served to advance evidence‐based practices and assessment technologies. In applied settings single‐case designs provide opportunities for practitioners and researchers to be involved in advancing both the practice and research enterprise. Frequently used to examine issues in the areas of special education and applied behavior analysis, single‐case research has the potential to widely advance the field of clinical psychology. The What Works Clearinghouse of the Institute for Education Sciences has recently developed design standards and evidence criteria that can more specifically guide single‐case design research. In this chapter we review the major classes of single‐case design research (i.e., ABAB , alternating treatment design, multiple baseline design) and provide specific examples of the application of this quantitative methodology. Future directions and implications are discussed.
Objective This review sought to provide a better understanding of the factors that contribute to social functioning outcomes in individuals with these RASopathies (i.e., genetic syndromes caused by disruption to the RAS-MAPK cellular signaling pathway). Data Selection A systematic literature search in the PubMed electronic database yielded 462 articles on social functioning in individuals with RASopathies. An additional five articles were identified through hand searches. Two researchers reviewed each article abstract, resulting in 58 full-text articles to be assessed for eligibility. Thirty-one articles met full criteria for inclusion in the review. For inclusion, studies were required to include at least three participants with a common RASopathy and had to examine the relationship between an aspect of social functioning and a factor that might influence social functioning. Data Synthesis The 31 articles meeting inclusion criteria were classified based on the predictors studied. Components examined during full review included: the syndrome(s) studied, participants, the aspect of social functioning assessed, the factor(s) studied in relation to social functioning, study measures, and key findings and limitations. Predictor variables were classified into the following categories: cognitive, affective, communicative, medical, and environmental. Conclusions Individuals with RASopathies are at higher risk of social functioning deficits. The majority of studies examined social functioning in NF1. Though a number of neuropsychological, medical, and environmental risk factors correlate with social deficits in this population, the majority of research has focused on cognitive and affective predictors. Symptoms of attention deficit-hyperactivity disorder and social processing difficulties had the most evidence as predictors of social outcomes.
OBJECTIVE This case series seeks to examine neurocognitive outcomes, social-emotional functioning, and family burden in young children diagnosed with Neurofibromatosis, type 1 (NF1) with early growing plexiform neurofibromas (PNFs). BACKGROUND Neurofibromatosis, type 1 (NF1) is a common predisposing chronic disease arising in early childhood, with an incidence of approximately 1:3000. Though NF1 displays a wide range of phenotypic variability, the primary feature of the disease is peripheral nerve sheath tumors called neurofibromas. Less is well known regarding the broader neurocognitive and social-emotional profile in presentations with more complex tumor growths, namely PNFs, which are present in at least half of the NF1-affected population. METHODS Participants with NF1 and PNFs (n=2) aged 6-7years completed comprehensive neuropsychological evaluations and parents completed measures of quality of life, social-emotional/behavioral functioning of child, parental stress, family adaptability, and family cohesion. RESULTS Outcomes suggest broad neurocognitive dysfunction (e.g., executive functioning deficits, attention problems, visual-motor delays, and poor motor coordination), social-emotional challenges (e.g., symptoms of anxiety and depression, and poor social skills), and familial distress. CONCLUSIONS Findings indicate the value of early and frequent monitoring of children with PNFs in medical systems and multi-disciplinary teams, and the importance of early intervention for both children and families.
Objective To outline the usefulness of neuropsychological evaluation in identifying functional neurological disorder. Functional neurological disorder accounts for an estimated 16% of neurology referrals and is a “crisis of neurology” (Edwards & Bhatia, 2012). Adolescents with a history of neurologic compromise, including autoimmune disorders, are at increased risk for comorbid functional neurological disorder (Reuber, Mitchell, Howlett, Crimlisk, & Grünewald, 2005). Method 16-year-old female with a history of Hoshimoto’s encephalopathy referred by her neurologist. Following diagnosis and treatment, she developed a constellation of symptoms, including wide set gait, nystagmus, incontinence, and dystonic episodes. She also reported lapses in memory that lasted a few minutes at a time. During these episodes, she forgot who her mother was and forgot details about her home, which resulted in panic. Results Two neuropsychological evaluations were completed over two years. Psychometric intelligence declined by two standard deviations compared to previous testing one year before. Her performance on memory tasks declined dramatically as well. Despite these declines, there was no decline in activities of daily living. She failed embedded and stand-alone performance validity measures (RDS = 4; TOMM = 29, 30, 28). These findings were described to her neurologist and psychiatrist and we discussed the importance of identifying functional symptoms in the context of her medical history. Conclusions Our evaluation identified significant discrepancies between neuropsychological performance and daily cognitive functioning. The memory lapses she described were inconsistent with any known etiology or illness. Neuropsychological evaluation identified symptoms of a functional nature and assisted in appropriate treatment planning.
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