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Cited by 125Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cognitive and behavioral characterization of 16p11.2 deletion syndrome

Hanson, Ellen, Nasir, Ramzi H., Fong, Alexa, Lian, Alyss, Hundley, Rachel, Shen, Yiping, Wu, Bai-Lin, Holm, Ingrid A. +1 more·2010·Journal of Developmental & Behavioral Pediatrics
DOI 10.1097/dbp.0b013e3181ea50ed
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Abstract

OBJECTIVE: To describe cognitive and behavioral features of patients with chromosome 16p11.2 deletion syndrome, a recently identified and common genetic cause of neurodevelopmental disability, especially autism spectrum disorder (ASD). METHOD: Twenty-one patients with 16p11.2 deletion were evaluated by medical record review. A subset of 11 patients consented to detailed cognitive, behavioral, and autism diagnostic assessment. RESULTS: Patients with 16p11.2 deletion had varying levels of intellectual disability, variable adaptive skills, and a high incidence of language delay. Attention issues were not as frequent as had been reported in previous clinical reports. Atypical language, reduced social skills, and maladaptive behaviors were common, as was diagnosis of ASD. Based on medical record review, 7 of 21 patients (33%) had an ASD diagnosis. Among patients receiving detailed phenotyping, 3 of 11 (27%) met full criteria (met cutoff scores on both Autism Diagnostic Observation Schedule and Autism Diagnostic Interview) for an ASD diagnosis, whereas 6 other patients (55%) met criteria for ASD on either the Autism Diagnostic Observation Schedule or the Autism Diagnostic Interview, but not both measures. CONCLUSIONS: Rates of ASD were similar to previous reports that are based on medical record reviews, but formal assessment revealed that a majority of patients with 16p11.2 deletion demonstrate features of ASD beyond simple language impairment. All patients with 16p11.2 deletion should receive formal neurodevelopmental evaluation including measures to specifically assess cognitive, adaptive, language, and psychiatric/behavioral issues. Clinical evaluation of this patient population should always include assessment by Autism Diagnostic Interview and Autism Diagnostic Observation Schedule to detect behaviors related to ASD and possible ASD diagnosis.

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  • Deletions and duplications of 16p11.2 have highly pleiotropic phenotypic effects, with strong links to ASD, ID, motor/developmental delay, dysmorphic features, and epilepsy/seizures.

    “Deletions and duplications of 16p11.2 have highly pleiotropic phenotypic effects, with strong links to ASD [8–19], ID [8, 10, 12, 14–16, 19–21], motor/developmental delay [8–10, 12, 13, 15–19, 22], dysmorphic features [8, 12, 16, 17, 22], and epilepsy/seizures [10, 12, 17].”

    From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [15]

  • Motor delays are reported at rates of 57.1% and 50% in 16p11.2 deletion carriers, and in 60% of duplication carriers.

    “Motor delays are reported at rates of 57.1% [15] and 50% [17] in deletion carriers, and in 60% of duplication carriers [17].”

    From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [15]

  • In individuals with neurodevelopmental disorders, genetic screenings find 16p11.2 deletions at rates of 0.25-2.9% and duplications at rates of 0.15-0.78%.

    “Data compiled from eight studies [13, 15–17, 20, 24, 26, 33] screening individuals with either ASD, ID, developmental delay (DD), dysmorphic features (DF), multiple congenital anomalies (MCA), obesity, or seizures find 16p11.2 deletions at rates of 0.25–2.9%, and duplications at rates between 0.15–0.78% (Table 1).”

    From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [15]

  • ADHD is observed in 16p11.2 CNV carriers at rates as high as 29% (63/217) in deletion carriers and 42% (48/114) in duplication carriers.

    “Attention-deficit/hyperactivity disorder (ADHD) is also observed in 16p11.2 CNV carriers [12, 15–17, 19, 23, 48], at rates as high as 29% (63/217) and 42% (48/114) in deletion and duplication carriers, respectively [34].”

    From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [15]

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Authors
Hanson, E., Nasir, R. H., Fong, A., Lian, A., Hundley, R., Shen, Y., Wu, B.-L., Holm, I. A., & Miller, D. T.
Affiliations
Boston Children's Hospital (US)
Corresponding author
  • Hanson, Ellen
  • Nasir, Ramzi H.
  • Fong, Alexa
  • Lian, Alyss
  • Hundley, Rachel
  • Holm, Ingrid A.
ORCID
Venue
Journal of Developmental & Behavioral Pediatrics
Publisher
Ovid Technologies (Wolters Kluwer Health)
Published
2010-10
Volume
31
Issue
8
Pages
649-657
ISSN
0196-206X (ISSN-L)
DOI
10.1097/dbp.0b013e3181ea50ed
OpenAlex
W2092912827
Cited by
125
References
32
Citations by year
2026: 2 · 2025: 6 · 2024: 8 · 2023: 4 · 2022: 6 · 2021: 6 · 2020: 11 · 2019: 8 · 2018: 7 · 2017: 7 · 2016: 6 · 2015: 12 · 2014: 9 · 2013: 10 · 2012: 13
FWCI
5.95
Type
journal article
Language
en
Open access
closed
Locations
  • Journal of Developmental & Behavioral Pediatrics (publishedVersion)
  • PubMed (publishedVersion)
Funders
National Institute of Mental Health (R01MH083565, R01MH085143)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Keywords
16p11.2 deletion syndrome, autism spectrum disorder, intellectual disability, language delay, adaptive skills, maladaptive behavior, social skills, neurodevelopmental disorders, autism diagnosis, genetic syndromes
MeSH terms
Adaptation, Psychological, Adolescent, Autistic Disorder, Boston, Child, Child Development Disorders, Pervasive, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 16, Female, Humans, Language Development Disorders, Male, Medical Records, Intellectual Disability, Phenotype, Severity of Illness Index, Social Behavior, Syndrome

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