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Down Syndrome: Neuropsychological Phenotype across the Lifespan

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A special issue of Brain Sciences (ISSN 2076-3425). This special issue belongs to the section "Neurodegenerative Diseases".

Deadline for manuscript submissions: closed (15 July 2021) | Viewed by 38563

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Dr. Margaret B. Pulsifer

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Department of Psychiatry, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA
Interests: down syndrome; neuropsychological functioning; development; lifespan; Alzheimer’s disease

Special Issue Information

Dear Colleagues,

Down syndrome (DS), caused by triplication of chromosome 21, is the most common genetic cause of intellectual disability (ID), with an estimated incidence of one in 700 live births. Individuals with DS commonly exhibit unique neuropsychological profiles that emerge during specific developmental stages across the lifespan, often characterized by early developmental delay, cognitive strengths and weaknesses, behavior and mental health issues, and age-related cognitive decline frequently resulting in early onset Alzheimer’s disease. These profiles are unique compared to other individuals with ID and reflect the genetic mechanisms and neuroanatomic features underlying the distinct neuropsychological phenotype associated with DS. Understanding this neuropsychological phenotype across the lifespan and the associated clinical, educational, and treatment needs is particularly important because of recent increases in life expectancy due to improved health care, advocacy, services, and societal changes. This Special Issue of Brain Sciences aims to highlight the recent advancements in understanding the neuropsychological phenotype associated with DS across the lifespan. The lifespan perspective will cover four developmental stages: (1) early childhood; (2) school age; (3) young adult, and (4) older adult. Authors are invited to submit cutting-edge original research studies and comprehensive reviews that address a broad range of topics related to DS, including early developmental trajectories, cognitive functioning, language, adaptive skills, behavior and mental health, assessment and diagnosis, age-related cognitive decline, and medical issues related to the neuropsychological phenotype, neuroimaging, and fMRI.

Dr. Margaret B. Pulsifer
Guest Editor

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Keywords

Down syndrome
Neuropsychological functioning
Development
Lifespan
Alzheimer’s disease

Published Papers (13 papers)

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Editorial

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3 pages, 162 KiB

Open AccessEditorial

Down Syndrome: Neuropsychological Phenotype across the Lifespan

by Margaret Pulsifer

Brain Sci. 2021, 11(11), 1380; https://doi.org/10.3390/brainsci11111380 - 21 Oct 2021

Cited by 1 | Viewed by 1288

Abstract

Down syndrome (DS), caused by triplication of chromosome 21, is the most common genetic cause of intellectual disability (ID), with an estimated incidence of one in 700 live births [...] Full article

(This article belongs to the Special Issue Down Syndrome: Neuropsychological Phenotype across the Lifespan)

Research

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16 pages, 2375 KiB

Open AccessArticle

Symptoms of Autism Spectrum Disorder in Individuals with Down Syndrome

by Amanda Dimachkie Nunnally, Vivian Nguyen, Claudine Anglo, Audra Sterling, Jamie Edgin, Stephanie Sherman, Elizabeth Berry-Kravis, Laura del Hoyo Soriano, Leonard Abbeduto and Angela John Thurman

Brain Sci. 2021, 11(10), 1278; https://doi.org/10.3390/brainsci11101278 - 26 Sep 2021

Cited by 9 | Viewed by 3449

Abstract

There is a growing body of evidence to suggest that individuals with Down syndrome (DS) are diagnosed with autism spectrum disorders (ASD) at a higher rate than individuals in the general population. Nonetheless, little is known regarding the unique presentation of ASD symptoms in DS. The current study aims to explore the prevalence and profiles of ASD symptoms in a sample of individuals with DS (n = 83), aged between 6 and 23 years. Analysis of this sample (M_Age = 15.13) revealed that approximately 37% of the sample met the classification cut-off for ASD using the Autism Diagnostic Observation Schedule 2 (ADOS-2) Calibrated Severity Score (CSS), an indicator of the participants’ severity of ASD-related symptoms. Item-level analyses revealed that multiple items on Module 2 and Module 3 of the ADOS-2, mostly in the Social Affect (SA) subdomain, differentiated the children with DS who did not meet ASD classification (DS-only) from those who did (DS + ASD). Lastly, comparisons of individuals with DS-only and those with DS + ASD differed significantly on the syntactic complexity of their expressive language. These findings shed light on the unique presentation of ASD symptoms in a sample of individuals with DS and suggest that expressive language abilities may play a pivotal role in the presentation of ASD symptoms in DS. Full article

(This article belongs to the Special Issue Down Syndrome: Neuropsychological Phenotype across the Lifespan)

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9 pages, 422 KiB

Open AccessArticle

Association between Hypothyroidism Onset and Alzheimer Disease Onset in Adults with Down Syndrome

by Florence Lai, Nathaniel D. Mercaldo, Cassandra M. Wang, Micaela S. Hersch, Giovi G. Hersch and Herminia Diana Rosas

Brain Sci. 2021, 11(9), 1223; https://doi.org/10.3390/brainsci11091223 - 16 Sep 2021

Cited by 7 | Viewed by 2357

Abstract

Adults with Down syndrome (DS) have an exceptionally high frequency of Alzheimer disease (AD) with a wide variability in onset, from 40 to 70 years of age. Equally prevalent in DS is hypothyroidism. In this study, we sought to quantify the relationship between the two. A total of 232 adults with DS and AD were stratified into three AD onset age groups: early (<47 years), typical (48–59), and late (>59). Among patients with available data, differences in the distributions of demographics, hypothyroidism variables (presence, age of onset), thyroid function tests, thyroid autoantibodies, and APOE genotypes were assessed (e.g., chi-squared, Mann–Whitney tests). Spearman and partial Spearman correlations and ordinal logistic regression models were constructed to quantify the association between ages of AD and hypothyroidism onset with and without covariate adjustments. We observed a positive association between the ages of AD and hypothyroidism onset after accounting for APOE-Ɛ4 (correlation: 0.44, 0.24, 0.60; odds ratio: 1.09, 1.05–1.14). However, an early age of hypothyroidism onset and the presence of the APOE-Ɛ4 allele were independently associated with the early age of AD onset. Similar findings were observed when accounting for other factors. Our study provides evidence for the importance of hypothyroidism and associated pathological mechanisms for risk of AD in DS. Full article

(This article belongs to the Special Issue Down Syndrome: Neuropsychological Phenotype across the Lifespan)

14 pages, 651 KiB

Open AccessArticle

Cognitive Function during the Prodromal Stage of Alzheimer’s Disease in Down Syndrome: Comparing Models

by Christy L. Hom, Katharine A. Kirby, Joni Ricks-Oddie, David B. Keator, Sharon J. Krinsky-McHale, Margaret B. Pulsifer, Herminia Diana Rosas, Florence Lai, Nicole Schupf, Ira T. Lott and Wayne Silverman

Brain Sci. 2021, 11(9), 1220; https://doi.org/10.3390/brainsci11091220 - 16 Sep 2021

Cited by 6 | Viewed by 2310 | Correction

Abstract

Accurate identification of the prodromal stage of Alzheimer’s disease (AD), known as mild cognitive impairment (MCI), in adults with Down syndrome (MCI-DS) has been challenging because there are no established diagnostic criteria that can be applied for people with lifelong intellectual disabilities (ID). As such, the sequence of cognitive decline in adults with DS has been difficult to ascertain, and it is possible that domain constructs characterizing cognitive function in neurotypical adults do not generalize to this high-risk population. The present study examined associations among multiple measures of cognitive function in adults with DS, either prior to or during the prodromal stage of AD to determine, through multiple statistical techniques, the measures that reflected the same underlying domains of processing. Participants included 144 adults with DS 40–82 years of age, all enrolled in a larger, multidisciplinary study examining biomarkers of AD in adults with DS. All participants had mild or moderate lifelong intellectual disabilities. Overall AD-related clinical status was rated for each individual during a personalized consensus conference that considered performance as well as health status, with 103 participants considered cognitively stable (CS) and 41 to have MCI-DS. Analyses of 17 variables derived from 10 tests of cognition indicated that performance reflected three underlying factors: language/executive function, memory, and visuomotor. All three domain composite scores significantly predicted MCI-DS status. Based upon path modeling, the language/executive function composite score was the most affected by prodromal AD. However, based upon structural equation modeling, tests assessing the latent construct of memory were the most impacted, followed by those assessing visuomotor, and then those assessing language/executive function. Our study provides clear evidence that cognitive functioning in older adults with DS can be characterized at the cognitive domain level, but the statistical methods selected and the inclusion or exclusion of certain covariates may lead to different conclusions. Best practice requires investigators to understand the internal structure of their variables and to provide evidence that their variables assess their intended constructs. Full article

(This article belongs to the Special Issue Down Syndrome: Neuropsychological Phenotype across the Lifespan)

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13 pages, 1096 KiB

Open AccessArticle

Selective Serotonin Reuptake Inhibitors for the Treatment of Depression in Adults with Down Syndrome: A Preliminary Retrospective Chart Review Study

by Robyn P. Thom, Michelle L. Palumbo, Claire Thompson, Christopher J. McDougle and Caitlin T. Ravichandran

Brain Sci. 2021, 11(9), 1216; https://doi.org/10.3390/brainsci11091216 - 15 Sep 2021

Cited by 6 | Viewed by 4461

Abstract

Background: Depression is a common psychiatric comorbidity in individuals with Down syndrome (DS), particularly adults, with an estimated lifetime prevalence of at least 10%. The current literature on the treatment of depression in adults with DS is limited to case series published more than two decades ago, prior to the widespread use of modern antidepressant medications such as selective serotonin reuptake inhibitors (SSRIs). The purpose of this retrospective chart review study was to examine the effectiveness, tolerability, and safety of SSRIs for depression in adults with DS. Methods: Medical records of 11 adults with DS and depression were reviewed. Assignment of scores for severity (S) of symptoms of depression and improvement (I) of symptoms with treatment with an SSRI was made retrospectively using the Clinical Global Impression Scale (CGI). Demographic and clinical characteristics of the study population, SSRI name, dose, and duration of treatment; and adverse effects were also recorded. Results: All 11 patients (7 male, 4 female; mean age = 27.2 years, range 18–46 years) completed a 12-week treatment course with an SSRI. The median duration of time after initiation of the SSRI covered by record review was 2.1 years, with a range of 24 weeks to 6.7 years. Nine of the 11 patients (82%; 95% CI 52%, 95%) were judged responders to SSRIs based on a rating of “much improved” or “very much improved” on the CGI-I after 12 weeks of treatment (median time of follow-up was 14.4 weeks, with a range of 12.0–33.0 weeks). Adverse effects occurred in four patients (36%). The most common adverse effects were daytime sedation and anger. Conclusions: In this preliminary retrospective study, the majority of patients responded to a 12-week course of SSRI treatment and some tolerated long-term use. Controlled studies are needed to further assess the efficacy, tolerability, and safety of SSRIs for the treatment of depression in adults with DS. Full article

(This article belongs to the Special Issue Down Syndrome: Neuropsychological Phenotype across the Lifespan)

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10 pages, 756 KiB

Open AccessArticle

Cognitive and Behavioral Domains That Reliably Differentiate Normal Aging and Dementia in Down Syndrome

by Jordan P. Harp, Lisa M. Koehl, Kathryn L. Van Pelt, Christy L. Hom, Eric Doran, Elizabeth Head, Ira T. Lott and Frederick A. Schmitt

Brain Sci. 2021, 11(9), 1128; https://doi.org/10.3390/brainsci11091128 - 25 Aug 2021

Cited by 4 | Viewed by 2309

Abstract

Primary care integration of Down syndrome (DS)-specific dementia screening is strongly advised. The current study employed principal components analysis (PCA) and classification and regression tree (CART) analyses to identify an abbreviated battery for dementia classification. Scale- and subscale-level scores from 141 participants (no dementia n = 68; probable Alzheimer’s disease n = 73), for the Severe Impairment Battery (SIB), Dementia Scale for People with Learning Disabilities (DLD), and Vineland Adaptive Behavior Scales—Second Edition (Vineland-II) were analyzed. Two principle components (PC1, PC2) were identified with the odds of a probable dementia diagnosis increasing 2.54 times per PC1 unit increase and by 3.73 times per PC2 unit increase. CART analysis identified that the DLD sum of cognitive scores (SCS < 35 raw) and Vineland-II community subdomain (<36 raw) scores best classified dementia. No significant difference in the PCA versus CART area under the curve (AUC) was noted (D(65.196) = −0.57683; p = 0.57; PCA AUC = 0.87; CART AUC = 0.91). The PCA sensitivity was 80% and specificity was 70%; CART was 100% and specificity was 81%. These results support an abbreviated dementia screening battery to identify at-risk individuals with DS in primary care settings to guide specialized diagnostic referral. Full article

(This article belongs to the Special Issue Down Syndrome: Neuropsychological Phenotype across the Lifespan)

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11 pages, 257 KiB

Open AccessArticle

Acute Regression in Down Syndrome

by Benjamin Handen, Isabel Clare, Charles Laymon, Melissa Petersen, Shahid Zaman, Sid O'Bryant, Davneet Minhas, Dana Tudorascu, Stephanie Brown and Bradley Christian

Brain Sci. 2021, 11(8), 1109; https://doi.org/10.3390/brainsci11081109 - 23 Aug 2021

Cited by 3 | Viewed by 2368

Abstract

Background: Acute regression has been reported in some individuals with Down syndrome (DS), typically occurring between the teenage years and mid to late 20s. Characterized by sudden, and often unexplained, reductions in language skills, functional living skills and reduced psychomotor activity, some individuals have been incorrectly diagnosed with Alzheimer’s disease (AD). Methods: This paper compares five individuals with DS who previously experienced acute regression with a matched group of 15 unaffected individuals with DS using a set of AD biomarkers. Results: While the sample was too small to conduct statistical analyses, findings suggest there are possible meaningful differences between the groups on proteomics biomarkers (e.g., NfL, total tau). Hippocampal, caudate and putamen volumes were slightly larger in the regression group, the opposite of what was hypothesized. A slightly lower amyloid load was found on the PET scans for the regression group, but no differences were noted on tau PET. Conclusions: Some proteomics biomarker findings suggest that individuals with DS who experience acute regression may be at increased risk for AD at an earlier age in comparison to unaffected adults with DS. However, due to the age of the group (mean 38 years), it may be too early to observe meaningful group differences on image-based biomarkers. Full article

(This article belongs to the Special Issue Down Syndrome: Neuropsychological Phenotype across the Lifespan)

13 pages, 265 KiB

Open AccessArticle

Description of Daily Living Skills and Independence: A Cohort from a Multidisciplinary Down Syndrome Clinic

by Kavita Krell, Kelsey Haugen, Amy Torres and Stephanie L. Santoro

Brain Sci. 2021, 11(8), 1012; https://doi.org/10.3390/brainsci11081012 - 30 Jul 2021

Cited by 9 | Viewed by 3187

Abstract

Levels of independence vary in individuals with Down syndrome (DS). We began this study to describe the current life skills in our clinic population of children and adults with DS. We collected and reviewed demographics, living situation, and life skills from an electronic intake form used in clinic procedures. Descriptive statistics for this cohort study included mean, standard deviation, and frequencies. From 2014–2020, 350 pediatric and 196 adult patients (range 0–62 years) with a first visit to the Massachusetts General Hospital Down Syndrome Program are described. Pediatric patients were most often enrolled in school, and in an inclusion setting. Adult patients were most often participating in a day program, living with family, and wanted to continue living with family in the future. Most (87%) of adults with DS communicated verbally, though fewer could use written communication (17%). Life skills of greatest importance to adolescents and adults with DS included: learning about healthy foods (35%), preparing meals (34%), providing personal information when needed (35%), and describing symptoms to a doctor (35%). Life skills for patients with DS are varied; those associated with a medical appointment, such as sharing symptoms with the doctor, could improve for greater independence. Full article

(This article belongs to the Special Issue Down Syndrome: Neuropsychological Phenotype across the Lifespan)

11 pages, 1549 KiB

Open AccessArticle

Early Visual Attention Abilities and Audiovisual Speech Processing in 5–7 Month-Old Down Syndrome and Typically Developing Infants

by Jovana Pejovic, Marisa Cruz, Cátia Severino and Sónia Frota

Brain Sci. 2021, 11(7), 939; https://doi.org/10.3390/brainsci11070939 - 16 Jul 2021

Cited by 4 | Viewed by 2800

Abstract

Communicative abilities in infants with Down syndrome (DS) are delayed in comparison to typically developing (TD) infants, possibly affecting language development in DS. Little is known about what abilities might underlie poor communication and language skills in DS, such as visual attention and audiovisual speech processing. This study compares DS and TD infants between 5–7 months of age in a visual orientation task, and an audiovisual speech processing task, which assessed infants’ looking pattern to communicative cues (i.e., face, eyes, mouth, and waving arm). Concurrent communicative abilities were also assessed via the CSBS-DP checklist. We observed that DS infants orient their visual attention slower than TD infants. Both groups attended more to the eyes than the mouth, and more to the face than the waving arm. However, DS infants attended less to the eyes than the background, and equally to the face and the background, suggesting their difficulty to assess linguistically relevant cues. Finally, communicative skills were related to attention to the eyes in TD, but not in DS infants. Our study showed that early attentional and audiovisual abilities are impaired in DS infants, and might underlie their communication skills, suggesting that early interventions in this population should emphasize those skills. Full article

(This article belongs to the Special Issue Down Syndrome: Neuropsychological Phenotype across the Lifespan)

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13 pages, 577 KiB

Open AccessArticle

Psychometric Evaluation of Social Cognition and Behavior Measures in Children and Adolescents with Down Syndrome

by Emily K. Schworer, Emily K. Hoffman and Anna J. Esbensen

Brain Sci. 2021, 11(7), 836; https://doi.org/10.3390/brainsci11070836 - 24 Jun 2021

Cited by 18 | Viewed by 2614

Abstract

Individuals with Down syndrome (DS) are often described as socially engaged; however, challenges with social cognition, expressive language, and social interaction are also common in DS and are prospective outcomes of interest for clinical trials. The current study evaluates the psychometric properties of standardized measurements of social cognition and social behavior for potential use as outcome measures for children and adolescents with DS. Seventy-three youth ages 6 to 17 years old (M = 12.67, SD = 3.16) with DS were assessed on social cognition subtests of a neuropsychological assessment at two time points. Caregivers also completed a parent-report measure of social behavior. Measures were evaluated for feasibility, test-retest reliability, practice effects, convergent validity, and associations with broader developmental domains (i.e., age, cognition, and language). All social cognition and behavior measures met criteria for a portion of the psychometric indices evaluated, yet feasibility limitations were identified for the Developmental Neuropsychological Assessment, Second Edition (NEPSY-II) Affect Recognition subtest, and the NEPSY-II Theory of Mind subtest had problematic floor effects for percentile ranks. The Social Responsiveness Scale, Second Edition (SRS-2; T-scores) had high feasibility, moderate to excellent test-retest reliability, and no practice effects, suggesting this measure could be appropriate for use in clinical trials involving youth with DS. Full article

(This article belongs to the Special Issue Down Syndrome: Neuropsychological Phenotype across the Lifespan)

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17 pages, 290 KiB

Open AccessArticle

The Association between Difficulties with Speech Fluency and Language Skills in a National Age Cohort of Children with Down Syndrome

by Kari-Anne B. Næss, Egil Nygaard, Hilde Hofslundsengen and J. Scott Yaruss

Brain Sci. 2021, 11(6), 704; https://doi.org/10.3390/brainsci11060704 - 26 May 2021

Cited by 3 | Viewed by 4189

Abstract

The present study (a) addressed difficulties in speech fluency in children with Down syndrome and typically developing children at a similar non-verbal level and (b) examined the association between difficulties with speech fluency and language skills in children with Down syndrome. Data from a cross-sectional parent survey that included questions about children’s difficulties with speech fluency, as well as clinical tests from a national age cohort of 43 six-year-olds with Down syndrome and 57 young typically developing children, were collected. Fisher’s exact test, Student’s t-test, linear regression, and density ellipse scatter plots were used for analysis. There was a significantly higher occurrence of parent-reported difficulties with speech fluency in the children with Down syndrome. Higher language scores were significantly associated with a lower degree of difficulties; this association was strongest for vocabulary and phonological skills. Although difficulties with speech fluency were not reported for all children with Down syndrome, a substantially higher occurrence of such difficulties was reported compared to that for typically developing children. The significant association between difficulties with speech fluency and the level of language functioning suggests that speech fluency and language skills should be taken into consideration when planning treatment for children with Down syndrome. Full article

(This article belongs to the Special Issue Down Syndrome: Neuropsychological Phenotype across the Lifespan)

15 pages, 308 KiB

Open AccessArticle

Occurrence of Reading Skills in a National Age Cohort of Norwegian Children with Down Syndrome: What Characterizes Those Who Develop Early Reading Skills?

by Kari-Anne B. Næss, Egil Nygaard and Elizabeth Smith

Brain Sci. 2021, 11(5), 527; https://doi.org/10.3390/brainsci11050527 - 21 Apr 2021

Cited by 1 | Viewed by 2608

Abstract

Children with Down syndrome are at risk of reading difficulties. Reading skills are crucial for social and academic development, and thus, understanding the nature of reading in this clinical group is important. This longitudinal study investigated the occurrence of reading skills in a Norwegian national age cohort of 43 children with Down syndrome from the beginning of first grade to third grade. Data were collected to determine which characteristics distinguished those who developed early reading skills from those who did not. The children′s decoding skills, phonological awareness, nonverbal mental ability, vocabulary, verbal short-term memory, letter knowledge and rapid automatized naming (RAN) performance were measured annually. The results showed that 18.6% of the children developed early decoding skills by third grade. Prior to onset, children who developed decoding skills had a significantly superior vocabulary and letter knowledge than non-readers after controlling for nonverbal mental abilities. These findings indicate that early specific training that focuses on vocabulary and knowledge of words and letters may be particularly effective in promoting reading onset in children with Down syndrome. Full article

(This article belongs to the Special Issue Down Syndrome: Neuropsychological Phenotype across the Lifespan)

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21 pages, 1206 KiB

Open AccessSystematic Review

A Systematic Review of Unexplained Early Regression in Adolescents and Adults with Down Syndrome

by Madeleine Walpert, Shahid Zaman and Anthony Holland

Brain Sci. 2021, 11(9), 1197; https://doi.org/10.3390/brainsci11091197 - 10 Sep 2021

Cited by 15 | Viewed by 3350

Abstract

A proportion of young people with Down syndrome (DS) experience unexplained regression that severely impacts on their daily lives. While this condition has been recognised by clinicians, there is a limited understanding of causation and an inconsistent approach to diagnosis and treatment. Varied symptomology and little knowledge of the cause of this regression have impacted on clinician’s ability to prevent or manage this condition. The purpose of this review was to examine the current evidence surrounding unexplained regression in adolescents and young adults, and to establish patterns that may be of use to clinicians, as well as raising awareness of this condition. Four areas were specifically reviewed, (1) terminology used to refer to this condition, (2) the symptoms reported, (3) potential trigger events and, (4) treatments and prognosis. A variety of terminology is used for this condition, which has constrained past attempts to identify patterns. An extensive number of symptoms were reported, however sleep impairment, loss of language and distinct changes in personality and behaviour, such as disinterest and withdrawal, were among the most frequently seen. Life events that were tentatively associated with the onset of a regressive period included a significant change in environmental circumstances or a transition, such as moving home or leaving school. Prognosis for this condition is relatively positive with the majority of individuals making at least a partial recovery. However, few patients were found to make a full recovery to their previous level of functioning and serious adverse effects could persist in those who have made a partial recovery. This is an under-researched condition with significant impacts on people with DS and their families. There are no established treatments for this condition and there is relatively little recognition in the research community. Further studies that focus on the prevention and treatment of this condition with controlled treatment trials are needed. Full article

(This article belongs to the Special Issue Down Syndrome: Neuropsychological Phenotype across the Lifespan)

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