2.0 CE Credits - Special Issue: The Neuropsychology of Neurodevelopmental Disorders (JINS 24:9, 2018): CE Bundle 3

apa-logo_white_screenThe International Neuropsychological Society is approved by the American Psychological Association to sponsor continuing education for psychologists. The International Neuropsychological Society maintains responsibility for this program and its content.
Educational Objectives
  1. Discuss executive function skills documented in children with neurofibromatosis type 1.
  2. Describe moderator variables of executive function skills in children with in neurofibromatosis type 1.
  3. Describe the course of cortical development within a developmental context in pediatric Down syndrome.
  4. Discuss current limitations and future directions critical for future work in this field (i.e., the field of pediatric Down syndrome).
  5. Discuss the relationship between a molecular lesion approach to dystrophinopathy and cognition.
  6. Explain how individual capacity as opposed to IQ in isolation may be a better predictor of academic achievement.
  7. Describe the memory deficits associated with Down syndrome.
  8. Discuss procedures for learning new words, including fast mapping and explicit encoding.

Course Information
Target Audience:Intermediate
Availability:Date Available: 2019-04-01
You may obtain CE for this JINS package at any time.
Offered for CEYes
CostMembers $20
Non-Members $30
Refund PolicyThis JINS package is not eligible for refunds
CE Credits2.0


Neurodevelopmental disorders are conditions that involve early insult or abnormality in the developing central nervous system and are associated with a wide spectrum of abilities. These conditions begin during the early developmental period (usually conceptualized as prenatally though the first 3 years of life), affect day-to-day functioning, and are often lifelong. Because the “typical” development of the nervous system has been altered in individuals with neurodevelopmental disorders, reorganization and competition for function occur, usually resulting in skill patterns that are less efficient than among individuals without such conditions. The timing of these alterations or developmental disruptions is also relevant, as different neural systems are selectively vulnerable to injury at different phases of prenatal and post-natal development. As a result, the behavioral and cognitive dysfunction associated with early neural damage can range from subtle (or absent) to diffuse and profound. Moreover, the functional impairments can be observed immediately in some individuals, while in others, the full range of deficits may not manifest until later in life, even though the neurobiological basis of the condition is present earlier (Rudel, 1981).

Among children with neurodevelopmental disorders, the trajectory is often “off developmental track” relative to the trajectory of typically developing children. Developmental delays (i.e., patterns of skill development that should have occurred earlier in life) are often observed early in life. While functional catch-up is possible, it is often incomplete, and the resulting maturational timelines based on typical development become less applicable (Mahone, Slomine, & Zabel, 2018).

Neurodevelopmental disorders are highly prevalent. Recent estimates from the Centers for Disease Control and Prevention (CDC) in the United States show that around one in six, or approximately 17%, of children ages 3 through 17 years have one or more neurodevelopmental disabilities (Boyle et al., 2011). The rates also are increasing, and the CDC reports may underestimate the actual prevalence worldwide. In the past 25 years, medical advances have improved the life course of several genetic, medical, and neurodevelopmental conditions, making them more survivable and compatible with life (e.g., very low birth weight preterm infants, congenital hydrocephalus) and extending the expected lifespan of others (e.g., cystic fibrosis, sickle cell disease). Due to higher survival rates and lifespans extending into adulthood, increased attention has been given to the development of self-management and independence skills and the transition into older adolescence and young adulthood (Tarazi, Mahone, & Zabel, 2007; Warschausky, Kaufman, Evitts, Schutt, & Hurvitz, 2017; Zabel, Jacobson, & Mahone, 2013). Given these considerations, the assessment and study of individuals with neurodevelopmental disorders is of significant interest to neuropsychologists.

Classification of neurodevelopmental disorders can be conceptualized using two primary approaches, one emphasizing behavior (without explicit reference to etiology), and the other emphasizing etiological medical, genetic, and neurological factors (Mahone et al., 2018). In the field of neuropsychology, those neurodevelopmental disorders defined on the basis of behavior (including attention-deficit/hyperactivity Disorder, ADHD; learning disabilities, LDs; autism spectrum disorders, ASDs; and intellectual disability, ID) have received considerable emphasis, in part because of their prevalence and overall public health relevance (Leigh & Du, 2015; Mahone & Denckla, 2017; Mahone & Mapou, 2014). Neurodevelopmental disorders diagnosed on the basis of known or presumed medical etiologic factors have received somewhat less emphasis among neuropsychologists. Such conditions include those with genetic, environmental (injury, infection, teratogens), or multi-factorial medical etiologies.

This special issue of the Journal of the International Neuropsychological Society focuses upon such conditions with known medical or genetic etiologies, and includes 11 papers presenting innovative and novel data related to the neuropsychology (including identification of biomarkers) of specific neurodevelopmental disorders. Included in the issue are seven studies reporting new empirical findings, two critical reviews, and two case reports. The timing of this special issue follows on the heels of the 50th anniversary of the implementation of US PL-88-164 (“Mental Retardation Facilities Construction Act”), which, in 1967, provided financial support for the development 18 University Affiliated Programs (emphasizing treatment for neurodevelopmental disorders), and 12 Research Centers dedicated to research of neurodevelopmental disorders, all of which have contributed to the scientific innovations that have improved the lives of individuals with neurodevelopmental disorders and their families.

The issue begins with seven empirical studies, emphasizing disorders (both rare and more common) with genetic and associated medical etiologies, with samples ranging in age from early childhood through young adult. Williams syndrome is a rare genetic condition, often associated with intellectual disability and significant visuospatial dysfunction. In the first paper, Prieto-Corona and colleagues report on neuropsychological and functional outcomes in children with Williams syndrome, with and without the additional (even rarer) deletion of the GTF2IRD2 gene. They showed that those individuals with the additional genetic deletion had even greater dysfunction in visuospatial and social cognition, compared to those with without the deletion.

Antschel et al. report findings from a rich, 9-year longitudinal dataset of individuals with 22q11.2 deletion syndrome, a disorder associated with high risk for functional impairment and psychosis. They found that early executive function, especially working memory deficits, were associated with later functional impairment, but that the association was seen in both those with and without the disorder, highlighting the importance of early assessment of executive and cognitive control skills as predictors of later outcome.

There is considerable sexual dimorphism observed among individuals with neurodevelopmental disorders. The study of individuals with sex chromosome aneuploidies—conditions characterized by abnormal numbers of X or Y chromosomes, for example, Klinefelter syndrome (XXY) or Turner syndrome (XO)—provides a highly relevant framework to investigate the etiology of some sex differences in development and function. In this issue, Udhnani and colleagues and Maiman and colleagues report on a less studied variant of sex chromosome aneuploidies—those with trisomies, tetrasomies, and pentasomies—showing an association between these variants and reductions in verbal fluency, with severity of deficits related linearly to the number of supernumerary X chromosomes.

The dystrophinopathies (including Duchenne and Becker muscular dystrophies) are X-linked muscle diseases associated with abnormal expression of the protein dystrophin. These conditions affect primarily males and result in a wide range of functional cognitive deficits. Fee and colleagues report on neuropsychological performance in a sample of 50 boys with muscular dystrophy, grouped by gene mutation position relative to exon 43. They found that boys with mutation downstream from exon 43 showed greater academic deficits, relative to those with mutation upstream of exon 43.

Medical and surgical advances contribute to an increasing number of individuals surviving congenital heart disease (CHD) and its treatment. King et al. report on neuroimaging findings in a sample of adolescents and young adults with CHD, showing reduced cerebellar volumes, with reductions predictive of executive and cognitive control functions.

The manifestation of neurobehavioral dysfunction among children with neurodevelopmental disorders often occurs early in life. Downes and colleagues present a case control study of executive functions in preschoolers with sickle cell disease (SCD). In their sample, performance-based reductions in inhibitory control and cognitive flexibility were more pronounced than parent reports of similar functions, highlighting the importance of direct assessment of executive control skills in preschoolers with SCD.

Down syndrome (DS) represents the most common genetic etiology of intellectual disability, and is associated with a wide range of medical complications and skill difficulties, especially those implicating hippocampally mediated functions. Edgin and colleagues reported minimal effects of a fast-mapping strategy, hypothesized to incrementally improve word retention, but instead showed that individuals with DS do retain novel words effectively, but only when presented during learning trials in small groups. In a related review, Hammer and colleagues provide a succinct overview of structural anatomic neuroimaging studies of individuals with DS, highlighting widespread reductions in cerebral volume early in life, with smaller effects (relative reductions) observed by adolescence.

Neurofibromatosis type 1 (NF1) is a genetic neurocutaneous disorder associated with learning disabilities, ADHD, and an increased risk for brain tumors. Beaussart and colleagues provide a meta-analysis of 19 studies of individuals with NF1, emphasizing executive control skills. They concluded that, in general, working memory and planning skills were relatively more affected than inhibitory control in this population, and that relative difficulties (compared to those without NF1) tend to increase with age through adolescence.

The two final papers in this issue highlight the utility of case studies, especially in rare conditions. Tan et al. report on an individual with Pitt-Hopkins syndrome (PHS), a rare genetic disorder caused by insufficient expression of the TCF4 gene. Nearly all of the few prior published reports on PHS highlight severe intellectual and functional deficits and minimal language use. This case report instead presents findings from an individual who, despite many cognitive limitations, showed some relatively spared language function. In the final paper for this special issue, Kim et al. report on an intervention using different spacing methods to improve word list learning in a young adult with congenital amnesia secondary to premature birth and associated hypoxic-ischemic injury. They found that word recognition improved with repetitions spaced, rather than massed.

As illustrated in this set of papers, neuropsychological studies of neurodevelopmental disorders typically are conducted from a developmental perspective with an increasingly interdisciplinary approach that frequently draws upon (and informs) a refined understanding of endophenotypes and biomarkers. The ultimate hope, of course, is that these research approaches will inform more effective treatment and optimal developmental outcomes for the target populations.

It was a pleasure organizing these papers into this special issue, and we thank the authors for their contribution to this unique collection of studies demonstrating the importance of rigorous neuropsychological inquiry into neurodevelopmental conditions. It is our hope that the readers of the Journal of the International Neuropsychological Society find this collection valuable and are able to build off of the innovative and novel neuropsychological findings in the specific neurodevelopmental disorders presented within.

Individual Titles, Authors, and Articles:

Systematic Review and Meta-analysis of Executive Functions in Preschool and School-Age Children With Neurofibromatosis Type 1
  • Marie-Laure Beaussart | Reference Center for Learning Disabilities, Nantes University Hospital, France, Laboratory of Psychology, LPPL EA4638, University of Angers, France
  • Sébastien Barbarot | Neurofibromatosis Clinic, Nantes University Hospital, France, Department of Dermatology, Nantes University Hospital, France
  • Claire Mauger | Laboratory of Psychology, LPPL EA4638, University of Angers, France
  • Arnaud Roy | Reference Center for Learning Disabilities, Nantes University Hospital, France, Laboratory of Psychology, LPPL EA4638, University of Angers, France, Neurofibromatosis Clinic, Nantes University Hospital, France


No potential conflict of interest was reported by the authors.


Neurofibromatosis type 1 (NF1) is a genetic disorder in which the most frequent complication in children is learning disabilities.Over the past decade, growing arguments support the idea that executive dysfunction is a core deficit in children with NF1. However, some data remain inconsistent.The aim of this study was to determine the magnitude of impairment for each executive function (EF) and clarify the impact of methodological choices and participant’scharacteristics on EFs.


In this meta-analysis, 19 studies met the selection criteria and were included with data from a total of805 children with NF1 and 667 controls. Based on the Diamond’s model (2013), EF measures were coded separately according to the following EF components: working memory,inhibitory control, cognitive flexibility, planning/problem solving. The review protocol was registered with PROSPERO (International prospective register of systematicreviews; CRD42017068808).


A significant executive dysfunction in children with NF1 is demonstrated. Subgroup analysis showed thatthe impairment varied as a function of the specific component of executive functioning. The effect size for working memory and planning/problem solving was moderatewhereas it was small for inhibitory control and cognitive flexibility. Executive dysfunction seems to be greater with increasing age whereas assessment tool type,intellectual performance, attention deficit hyperactivity disorder and control group composition did not seem to affect EF results.


EF deficits are a core feature in children with NF1 and an early identification of executive dysfunctions is essential to limit their impact on the quality of life.(JINS, 2018, 24, 977–994)

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Pediatric Brain Development in Down Syndrome: A Field in Its Infancy
  • Taralee Hamner | Department of Psychology, Drexel University, Philadelphia, Pennsylvania
  • Manisha D. Udhnani | Department of Psychology, Drexel University, Philadelphia, Pennsylvania
  • Karol Z. Osipowicz | Department of Psychology, Drexel University, Philadelphia, Pennsylvania
  • Nancy Raitano Lee | Department of Psychology, Drexel University, Philadelphia, Pennsylvania

E-mail address | taralee.hamner@gmail.com

No potential conflict of interest was reported by the authors.


As surprisingly little is known about the developing brain studied in vivo in youth with Down syndrome(DS), the current review summarizes the small DS pediatric structural neuroimaging literature and begins to contextualize existing research within a developmentalframework.


A systematic review of the literature was completed, effect sizes from published studies were reviewed, and results arepresented with respect to the DS cognitive behavioral phenotype and typical brain development.


The majority of DS structural neuroimagingstudies describe gross differences in brain morphometry and do not use advanced neuroimaging methods to provide nuanced descriptions of the brain. There is evidencefor smaller total brain volume (TBV), total gray matter (GM) and white matter, cortical lobar, hippocampal, and cerebellar volumes. When reductions in TBV are accountedfor, specific reductions are noted in subregions of the frontal lobe, temporal lobe, cerebellum, and hippocampus. A review of cortical lobar effect sizes reveals mostlylarge effect sizes from early childhood through adolescence. However, deviance is smaller in adolescence. Despite these smaller effects, frontal GM continues to belargely deviant in adolescence. An examination of age-frontal GM relations using effect sizes from published studies and data from Lee et al. (2016) reveals that whilethere is a strong inverse relationship between age and frontal GM volume in controls across childhood and adolescence, this is not observed in DS.


Further developmentally focused research, ideally using longitudinal neuroimaging, is needed to elucidate the nature of the DS neuroanatomic phenotype during childhoodand adolescence. (JINS, 2018, 24, 966–976)

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Executive Skills and Academic Achievement in the Dystrophinopathies
  • Robert J. Fee | The Graduate Center, City University of New York, Queens College, Queens, New York
  • Gertrude H. Sergievsky Center, Columbia University, New York, New York
  • Jacqueline Montes | Departments of Neurology and Rehabilitation and Regenerative Medicine, Columbia University, New York, New York
  • Jennifer L. Stewart | The Graduate Center, City University of New York, Queens College, Queens, New York
  • Veronica J. Hinton | The Graduate Center, City University of New York, Queens College, Queens, New York
  • Gertrude H. Sergievsky Center and Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York

E-mail address | vjh9@columbia.edu

Fee, R.J., Montes, J, Stewart, J.L., and Hinton, V.J. declare that they have no conflicts of interest.



To examine academic performance in dystrophinopathy as a function of dystrophin gene mutation position as well as intellectual function,executive skills, socioeconomic status (SES), behavior, and physical ability.


In a cross-sectional study, boys with dystrophinopathy(ages 5–17; n=50) completed tests of academics (Woodcock-Johnson-III: spelling, reading, calculation and total scores), executive functioning(selective attention/inhibitory control, set shifting, working memory, and processing speed), single word comprehension and nonverbal reasoning. Motor skills wereassessed and parents provided demographic information and child behavioral assessments. Dystrophin gene mutation positions were dichotomized into groups (upstreamversus downstream of exon 43, location of isoforms previously linked to intellectual impairment). Genetic mutation groups were compared on measures of academic achievement,and multiple regression analyses examined unique and joint contributions of executive skills, intelligence quotient (IQ), SES, motor abilities, behavior, and mutationpositions to academic outcomes.


Academic performance was slightly, yet significantly, lower than IQ and varied as a function ofdystrophin gene position, wherein boys possessing the downstream mutation exhibited greater impairment than boys with the upstream mutation. Digit span forward (indexingverbal span), but no other measure of executive function, contributed significant variance to total academic achievement, spelling and calculation.


Weak academic performance is associated with dystrophinopathy and is more common in downstream mutations. A specific deficit in verbal span may underlie inefficienciesobserved in children with dystrophinopathy and may drive deficits impacting academic abilities. (JINS, 2018, 24,928–938)

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Small Sets of Novel Words Are Fully Retained After 1-Week in Typically Developing Children and Down Syndrome: A Fast Mapping Study
  • Stella Sakhon | Department of Psychology, University of Arizona, Tucson, Arizona
  • Kelly Edwards | Department of Psychology, University of Arizona, Tucson, Arizona
  • Alison Luongo | Department of Psychology, University of Arizona, Tucson, Arizona
  • Melanie Murphy | Department of Psychology, University of Arizona, Tucson, Arizona
  • Jamie Edgin | Department of Psychology, University of Arizona, Tucson, Arizona

E-mail address | jedgin@email.arizona.edu

The authors have no conflicts of interest to report.


Down syndrome (DS) is a population with known hippocampal impairment, with studies showing that individuals with DS display difficultiesin spatial navigation and remembering arbitrary bindings. Recent research has also demonstrated the importance of the hippocampus for novel word-learning. Based onthese data, we aimed to determine whether individuals with DS show deficits in learning new labels and if they may benefit from encoding conditions thought to be lessreliant on hippocampal function (i.e., through fast mapping).


In the current study, we examined immediate, 5-min, and 1-week delayedword-learning across two learning conditions (e.g., explicit encoding vs. fast mapping). These conditions were examined across groups (twenty-six3- to 5-year-old typically developing children and twenty-six 11- to 28-year-old individuals with DS with comparable verbal and nonverbal scores on the Kaufman BriefIntelligence Test – second edition) and in reference to sleep quality.


Both individuals with and without DS showed retention aftera 1-week delay, and the current study found no benefit of the fast mapping condition in either group contrary to our expectations. Eye tracking data showed that preferentialeye movements to target words were not present immediately but emerged after 1-week in both groups. Furthermore, sleep measures collected via actigraphy did not relate to retention in either group.


This study presents novel data on long-term knowledge retention in referenceto sleep patterns in DS and adds to a body of knowledge helping us to understand the processes of word-learning in typical and atypically developing populations. (JINS, 2018, 24, 955–965)

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