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Cited by 58Down syndrome and intellectual disability researchAutism Spectrum Disorder ResearchDementia and Cognitive Impairment Research

Pediatric Brain Development in Down Syndrome: A Field in Its Infancy

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Hamner, Taralee, Udhnani, Manisha D., Osipowicz, Karol Z., Lee, Nancy Raitano·2018·Journal of the International Neuropsychological Society
DOI 10.1017/s1355617718000206PMC PMC6207466
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Abstract

Objectives: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 developmental framework.Methods:A systematic review of the literature was completed, effect sizes from published studies were reviewed, and results are presented with respect to the DS cognitive behavioral phenotype and typical brain development.Results:The majority of DS structural neuroimaging studies describe gross differences in brain morphometry and do not use advanced neuroimaging methods to provide nuanced descriptions of the brain. There is evidence for smaller total brain volume (TBV), total gray matter (GM) and white matter, cortical lobar, hippocampal, and cerebellar volumes. When reductions in TBV are accounted for, specific reductions are noted in subregions of the frontal lobe, temporal lobe, cerebellum, and hippocampus. A review of cortical lobar effect sizes reveals mostly large effect sizes from early childhood through adolescence. However, deviance is smaller in adolescence. Despite these smaller effects, frontal GM continues to be largely 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 while there is a strong inverse relationship between age and frontal GM volume in controls across childhood and adolescence, this is not observed in DS.Conclusions:Further developmentally focused research, ideally using longitudinal neuroimaging, is needed to elucidate the nature of the DS neuroanatomic phenotype during childhood and adolescence. (JINS, 2018,24, 966–976)

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  • Neuroanatomical evidence alone is insufficient to explain the neurodevelopmental deficits and biological processes that drive intellectual disability in Down syndrome.

    “However, this neuroanatomical evidence is insufficient on its own to explain the neurodevelopmental deficits and biological processes that drive intellectual disability16.”

    From Consequences of trisomy 21 for brain development in Down syndrome (2024) · cites this paper as [16]

    The Summary of DS Imaging Findings says existing studies cannot yet provide a developmentally informed model of brain development in Down syndrome. The State of the Literature conclusion likewise says the lack of longitudinal imaging limits understanding of how neuroanatomic and cognitive-behavioral phenotypes unfold. These passages support the insufficiency of current neuroanatomical evidence, but do not specifically establish what biological processes drive intellectual disability. (LLM, conf=0.79)

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Cited by

Sorted by citations

Authors
Hamner, T., Udhnani, M. D., Osipowicz, K. Z., & Lee, N. R.
Affiliations
Drexel University (US)
Corresponding author
Hamner, Taralee
ORCID
Venue
Journal of the International Neuropsychological Society
Publisher
Cambridge University Press (CUP)
Published
2018-05-23
Volume
24
Issue
9
Pages
966-976
ISSN
  • 1355-6177 (ISSN-L)
  • 1469-7661
DOI
10.1017/s1355617718000206
PMC
PMC6207466
OpenAlex
W2804894270
Cited by
58
References
5
Citations by year
2026: 5 · 2025: 7 · 2024: 10 · 2023: 14 · 2022: 9 · 2021: 5 · 2020: 2 · 2019: 6
FWCI
0.59
Type
journal article
Language
en
Open access
Licence
www.cambridge.org/core/terms (unspecified)
Locations
  • Journal of the International Neuropsychological Society (publishedVersion)
  • PubMed (publishedVersion)
  • Europe PMC (PubMed Central) (acceptedVersion)
  • PubMed Central (acceptedVersion)
Funders
  • McGill University
  • National Institutes of Health (n01ns092319-000, NCT00001246, n01ns092317-000, n01ns092320-002, n01ns92315-15-0-1, n01hd23343-8-0-0, n01ns092314-002, n01ns092316-000, n01mh90002-26-0-0)
  • National Institute of Mental Health (N01-NS-9-2314, N01-MH09-0002, NCT00001246, N01-MH 90002)
  • National Institute on Drug Abuse (N01-MH9-0002)
  • National Institute of Neurological Disorders and Stroke (N01-NS-92314, N01-HD02–3343, #s N01‐HD02‐3343, N01-MH9-0002, N01 NS092316, N01 NS092320, N01 NS092314, N01 NS092315, N01 NS092317, NCT00001246, N01 NS092319)
  • National Institute of Child Health and Human Development (N01‐HD02‐3343)
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (N01-HD023343)
Topics
  • Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
  • Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
Keywords
Down syndrome, brain development, structural neuroimaging, brain morphometry, total brain volume, gray matter volume, white matter volume, hippocampus, cerebellum, frontal lobe, adolescence, childhood
MeSH terms
Adolescent, Brain, Child, Child, Preschool, Down Syndrome, Humans, Infant, Infant, Newborn

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