2.0 CE Credits - Special Issue: The Neuropsychology of Neurodevelopmental Disorders (JINS 24:9, 2018): CE Bundle 1

2.0 Hours of Continuing Education credits are available for reading this series. You must read ALL listed critical reviews below in order to receive credit, and you must pass the evaluation with a score of at least 75%.

On this page you may review the learning objectives for this series, as well as the titles, authors, and abstracts for each critical review.

CLICK HERE to view this overall issue on the Cambridge University Press website.


At the completion of reading these materials, learners will be able to:
  1. Describe the clinical features of Pitt-Hopkins Syndrome (PTHS).
  2. Discuss the unique phenotype of the present PTHS case study.
  3. Describe why a young child with sickle cell anaemia should be considered for early baseline neuropsychological assessment.
  4. List the subdomains of executive function where a child with sickle cell anaemia might show delay or deficits at preschool age.
  5. List the genes that have a critical influence on the cognitive, behavioural and adaptive profile of people with Williams syndrome.
  6. Discuss how genes influence cognitive, behavioural and adaptive characteristics in people with Williams syndrome.
  7. Describe verbal fluency abilities in youth with sex chromosome aneuploidies.
  8. Compare performance across groups as they differ as a function of extra X number and X vs. Y status.

Individual Article Titles And Authors:

Pitt-Hopkins Syndrome: A Unique Case Study

Alexander Tan, Kimberly Goodspeed, AND Veronica Bordes Edgar

Objectives: Pitt-Hopkins syndrome (PTHS) is a rare genetic disorder caused by insufficient expression of the TCF4 gene. Most cases are characterized by severe intellectual disability, absent speech, motor delays, and autism spectrum disorder. Many have abnormal brain imaging, dysmorphic facial features, and medical comorbidities: myopia, constipation, epilepsy, and apneic spells. The present case study expands existing understanding of this disorder by presenting a unique phenotype with higher cognitive abilities and fewer medical comorbidities. Methods: The present case study reports on a 13-year-old, Caucasian male with a recent diagnosis of PTHS following genetic testing (i.e., whole exome sequencing). He was referred for a neuropsychological evaluation to document his neurocognitive functioning to assist with intervention planning. Results: Evaluation of intellectual, attention/executive, memory, visual-motor/fine-motor, academic, adaptive, and emotional/behavioral functioning revealed global impairment across all areas of functioning. However, he demonstrated abilities beyond what has been detailed in the literature, including use of full sentences, capacity to learn and solve novel problems, basic academic functioning, and independent ambulation. Conclusions: Children with PTHS may demonstrate a spectrum of abilities beyond what has been documented in the literature thus far. Failure to recognize this spectrum can result in late identification of an accurate diagnosis. (JINS, 2018, 24, 995–1002)

Assessment of Executive Functions in Preschool Children With Sickle Cell Anemia

Michelle Downes, Fenella J. Kirkham, Paul T. Telfer, AND Michelle de Haan

Objectives: Children with sickle cell anemia (SCA) are commonly reported to experience executive dysfunction. However, the development of executive function (EF) in preschool-age children without stroke in this patient population has not been investigated so it is unclear when and how these deficits emerge. Methods: This case-control study examines the feasibility of assessing the early development of executive functioning in 22 preschool children years with SCA in the domains of processing speed, working memory, attention, inhibitory control, and cognitive flexibility, as well as everyday function, in comparison to matched control children. Results: A pattern of potential deficits in early emerging executive skills was observed in the domains of inhibitory control and cognitive flexibility. Parents reported no differences for everyday EF and no significant differences were observed for working memory and processing speed. Conclusions: Results suggest that deficits in everyday executive difficulties, working memory, and processing speed, as commonly reported for older children with SCA, may not yet have emerged at this early developmental stage, despite specific deficits in cognitive flexibility and inhibitory control on behavioral measures. The feasibility of using available executive measures with preschool age children to characterize the development of early EF skills is discussed. (JINS, 2018, 24, 949–954)

Cognitive, Behavioral, and Adaptive Profiles in Williams Syndrome With and Without Loss of GTF2IRD2

Carlos Alberto Serrano-Juárez, Carlos Alberto Venegas-Vega, Ma. Guillermina Yáñez-Téllez, Mario Rodríguez-Camacho, Juan Silva-Pereyra, Hermelinda Salgado-Ceballos, AND Belén Prieto-Corona

Williams syndrome (WS) is a neurodevelopmental disorder that results from a heterozygous microdeletion on chromosome 7q11.23. Most of the time, the affected region contains ~ 1.5 Mb of sequence encoding approximately 24 genes. Some 5–8% of patients with WS have a deletion exceeding 1.8 Mb, thereby affecting two additional genes, including GTF2IRD2. Currently, there is no consensus regarding the implications of GTF2IRD2 loss for the neuropsychological phenotype of WS patients. Objectives: The present study aimed to identify the role of GTF2IRD2 in the cognitive, behavioral, and adaptive profile of WS patients. Methods: Twelve patients diagnosed with WS participated, four with GTF2IRD2 deletion (atypical WS group), and eight without this deletion (typical WS group). The age range of both groups was 7–18 years old. Each patient’s 7q11.23 deletion scope was determined by chromosomal microarray analysis. Cognitive, behavioral, and adaptive abilities were assessed with a battery of neuropsychological tests. Results: Compared with the typical WS group, the atypical WS patients with GTF2IRD2 deletion had more impaired visuospatial abilities and more significant behavioral problems, mainly related to the construct of social cognition. Conclusions: These findings provide new evidence regarding the influence of the GTF2IRD2 gene on the severity of behavioral symptoms of WS related to social cognition and certain visuospatial abilities. (JINS, 2018, 24, 896–904)

Phonemic and Semantic Verbal Fluency in Sex Chromosome Aneuploidy: Contrasting the Effects of Supernumerary X versus Y Chromosomes on Performance

Manisha Udhnani, Moshe Maiman, Jonathan D. Blumenthal, Liv S. Clasen, Gregory L. Wallace, Jay N. Giedd, Armin Raznahan, AND Nancy Raitano Lee

Objectives: Past research suggests that youth with sex chromosome aneuploidies (SCAs) present with verbal fluency deficits. However, most studies have focused on sex chromosome trisomies. Far less is known about sex chromosome tetrasomies and pentasomies. Thus, the current research sought to characterize verbal fluency performance among youth with sex chromosome trisomies, tetrasomies, and pentasomies by contrasting how performance varies as a function of extra X number and X versus Y status. Methods: Participants included 79 youth with SCAs and 42 typically developing controls matched on age, maternal education, and racial/ethnic background. Participants completed the phonemic and semantic conditions of a verbal fluency task and an abbreviated intelligence test. Results: Both supernumerary X and Y chromosomes were associated with verbal fluency deficits relative to controls. These impairments increased as a function of the number of extra X chromosomes, and the pattern of impairments on phonemic and semantic fluency differed for those with a supernumerary X versus Y chromosome. Whereas one supernumerary Y chromosome was associated with similar performance across fluency conditions, one supernumerary X chromosome was associated with relatively stronger semantic than phonemic fluency skills. Conclusions: Verbal fluency skills in youth with supernumerary X and Y chromosomes are impaired relative to controls. However, the degree of impairment varies across groups and task condition. Further research into the cognitive underpinnings of verbal fluency in youth with SCAs may provide insights into their verbal fluency deficits and help guide future treatments. (JINS, 2018, 24, 917–927)